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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Bietti Crystalline Dystrophy (C535440)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Cone Dystrophy (D000077765)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195 C:2
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1337

Name:

Bietti Crystalline Dystrophy

Definition:

Alternative IDs:

OMIM:210370

ParentIDs:

MESH:D003317|MESH:D012164

TreeNumbers:

C11.204.236/C535440 |C11.270.162/C535440 |C11.768/C535440 |C16.320.290.162/C535440

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C535440
MeSH: C535440
OMIM: 210370;
MSeqDR :
Genes: CYP4V2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues NAMDC: Hematopoetic
3	HP:0000533	Chorioretinal atrophy
4	HP:0001133	Constriction of peripheral visual field
5	HP:0011003	High myopia	HP:0040283
6	HP:0007880	Marginal corneal dystrophy
7	HP:0007675	Progressive night blindness
8	HP:0000529	Progressive visual loss
9	HP:0000546	Retinal degeneration

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000350.3(ABCA4):c.3522+6T>C	24	ABCA4	Uncertain significance	1570370713	RCV000787904;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	1	94506759	94506759	1:g.94506759A>G	-
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	24	ABCA4	Pathogenic/Likely pathogenic	387906385	RCV000413475\|RCV000504931\|RCV000787775\|RCV001073604;	N	MedGen:C3661900\|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phe	1	94508433	94508434	NC_000001.10:g.94508435_94508436dup	ClinGen:CA958005	CN517202 not provided;
NM_207352.3(CYP4V2):c.-302G>A	285440	CYP4V2	Uncertain significance	549805175	RCV000283823\|RCV000392471;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187112676	187112676	4:g.187112676G>A	ClinGen:CA3162391	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.3(CYP4V2):c.-296A>C	285440	CYP4V2	Benign	7662717	RCV000343556\|RCV000404040\|RCV001683389;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343\|MedGen:C3661900	4	187112682	187112682	4:g.187112682A>C	ClinGen:CA10618405	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-199C>T	285440	CYP4V2	Uncertain significance	886059278	RCV000299136\|RCV000353945;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187112779	187112779	4:g.187112779C>T	ClinGen:CA10620646	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-178C>T	285440	CYP4V2	Uncertain significance	886059279	RCV000299291\|RCV000394417;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187112800	187112800	4:g.187112800C>T	ClinGen:CA10620647	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-152A>G	285440	CYP4V2	Benign	2241819	RCV000273471\|RCV000368046\|RCV001598660;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187112826	187112826	4:g.187112826A>G	ClinGen:CA10620589	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-146C>T	285440	CYP4V2	Benign	1398007	RCV000333210\|RCV000369309\|RCV001718744;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187112832	187112832	4:g.187112832C>T	ClinGen:CA10620602	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-133G>T	285440	CYP4V2	Uncertain significance	562885669	RCV001145841\|RCV001145842;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187112845	187112845	4:g.187112845G>T	-
NM_207352.4(CYP4V2):c.-130del	285440	CYP4V2	Likely benign	200054565	RCV000270029\|RCV000325117;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187112848	187112848	4:g.187112848_187112848del	ClinGen:CA10618419	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-128A>G	285440	CYP4V2	Benign/Likely benign	531909464	RCV000271857\|RCV000384414;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187112850	187112850	4:g.187112850A>G	ClinGen:CA10617499	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-56C>G	285440	CYP4V2	Uncertain significance	886059280	RCV000322206\|RCV000376809;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187112922	187112922	NC_000004.11:g.187112922C>G	ClinGen:CA10618424	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-22C>G	285440	CYP4V2	Uncertain significance	894067959	RCV001148609\|RCV001148608;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187112956	187112956	4:g.187112956C>G	-
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	202148693	RCV000287005\|RCV000341915\|RCV000964256;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187113001	187113001	NC_000004.11:g.187113001C>T	ClinGen:CA3162406	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)	285440	CYP4V2	Benign	1055138	RCV000032544\|RCV000082840\|RCV000132719\|RCV000278726;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187113041	187113041	4:g.187113041C>G	ClinGen:CA149664,UniProtKB:Q6ZWL3#VAR_038606	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	145611966	RCV000963438\|RCV001150193\|RCV001148610;	N	MedGen:C3661900\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187113076	187113076	4:g.187113076G>A	-
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter)	285440	CYP4V2	Pathogenic	1481160549	RCV001003003;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187113097	187113097	4:g.187113097C>G	-
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)	285440	CYP4V2	Uncertain significance	119103282	RCV000002271\|RCV001238785;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187113107	187113107	4:g.187113107T>A	ClinGen:CA339954,UniProtKB:Q6ZWL3#VAR_023084,OMIM:608614.0001	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser)	285440	CYP4V2	Uncertain significance	760001831	RCV000338412\|RCV000405645\|RCV001850848;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187113140	187113140	NC_000004.11:g.187113140C>A	ClinGen:CA10618426	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.176del (p.Leu59fs)	285440	CYP4V2	Pathogenic/Likely pathogenic	1735999769	RCV001049085\|RCV002481945;	N	MedGen:C3661900\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187113153	187113153	4:g.187113153_187113153del	-
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser)	285440	CYP4V2	Pathogenic	119103285	RCV000002274;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187113158	187113158	4:g.187113158G>A	ClinGen:CA339957,UniProtKB:Q6ZWL3#VAR_023085,OMIM:608614.0004	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)	285440	CYP4V2	Conflicting interpretations of pathogenicity	199476185	RCV000032536\|RCV000352220\|RCV001074796\|RCV001092654;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:000	4	187115676	187115676	4:g.187115676G>T	ClinGen:CA343723,UniProtKB:Q6ZWL3#VAR_023086	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys)	285440	CYP4V2	Pathogenic	199476186	RCV000032537\|RCV001377212;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187115692	187115692	4:g.187115692C>T	ClinGen:CA343724	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)	285440	CYP4V2	Pathogenic	2126582121	RCV001780606;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187115706	187115706	187115705	-
NM_207352.4(CYP4V2):c.282C>T (p.Val94=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	142775374	RCV000307955\|RCV000404727\|RCV001441280;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187115721	187115721	NC_000004.11:g.187115721C>T	ClinGen:CA3162490	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)	285440	CYP4V2	Pathogenic/Likely pathogenic	199476187	RCV000032538\|RCV001221420;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187115722	187115722	4:g.187115722G>A	ClinGen:CA343726	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val)	285440	CYP4V2	Uncertain significance	143272248	RCV000272624\|RCV000362639\|RCV001053250;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187115741	187115741	NC_000004.11:g.187115741C>T	ClinGen:CA3162494	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser)	285440	CYP4V2	Uncertain significance	886059281	RCV000309066\|RCV000358766;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187115750	187115750	NC_000004.11:g.187115750A>G	ClinGen:CA10620604	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.327+1G>A	285440	CYP4V2	Pathogenic	199476182	RCV000032539\|RCV001852655;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187115767	187115767	4:g.187115767G>A	ClinGen:CA343728	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.327+11G>C	285440	CYP4V2	Benign/Likely benign	62350517	RCV000263928\|RCV000323862\|RCV000732162\|RCV001510108;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN169374\|MedGen:C3661900	4	187115777	187115777	NC_000004.11:g.187115777G>C	ClinGen:CA3162503	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)	285440	CYP4V2	Pathogenic	119103283	RCV000002272\|RCV001047112;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187117161	187117161	4:g.187117161T>C	ClinGen:CA339955,UniProtKB:Q6ZWL3#VAR_023087,OMIM:608614.0002	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter)	285440	CYP4V2	Pathogenic	199476188	RCV000032540;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187117164	187117164	4:g.187117164T>G	ClinGen:CA343729	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)	285440	CYP4V2	Conflicting interpretations of pathogenicity	149684063	RCV000032541\|RCV000132718\|RCV000260520\|RCV001074793;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|Human Phenotype Ontology:HP:0000556,Human Phenotype	4	187117196	187117196	4:g.187117196A>G	ClinGen:CA232864,UniProtKB:Q6ZWL3#VAR_023088	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter)	285440	CYP4V2	Pathogenic	199476189	RCV000032542\|RCV001093468;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187117229	187117229	4:g.187117229G>T	ClinGen:CA343731	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.414-1G>A	285440	CYP4V2	Pathogenic/Likely pathogenic	767779208	RCV001816386\|RCV002267641;	N	MedGen:C3661900\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187118093	187118093	187118093	-
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs)	285440	CYP4V2	Pathogenic/Likely pathogenic	746484929	RCV001195425\|RCV002561036;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187118176	187118179	4:g.187118176_187118179del	-
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)	285440	CYP4V2	Pathogenic	199476190	RCV000032543;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187118198	187118198	4:g.187118198T>G	ClinGen:CA343733	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=)	285440	CYP4V2	Benign	11932764	RCV000315783\|RCV000375099\|RCV001514171;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187118235	187118235	NC_000004.11:g.187118235A>T	ClinGen:CA3162585	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)	285440	CYP4V2	Conflicting interpretations of pathogenicity	61745524	RCV000585567\|RCV001144049\|RCV001144050;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187118692	187118692	4:g.187118692G>A	ClinGen:CA3162612	CN517202 not provided;
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr)	285440	CYP4V2	Uncertain significance	376640607	RCV000280676\|RCV000350264\|RCV001225802;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187118708	187118708	NC_000004.11:g.187118708T>C	ClinGen:CA3162613	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn)	285440	CYP4V2	Benign/Likely benign	34331648	RCV000296354\|RCV000386083\|RCV000966932;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187118720	187118720	NC_000004.11:g.187118720G>A	ClinGen:CA3162614,UniProtKB:Q6ZWL3#VAR_038607	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His)	285440	CYP4V2	Pathogenic	199476191	RCV000032545;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187118737	187118737	4:g.187118737T>C	ClinGen:CA343735	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys)	285440	CYP4V2	Uncertain significance	745471184	RCV000351328\|RCV000392054\|RCV002523469;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187118743	187118743	NC_000004.11:g.187118743C>T	ClinGen:CA3162617	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His)	285440	CYP4V2	Uncertain significance	763083895	RCV000306829\|RCV000347765\|RCV002520232;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187118744	187118744	NC_000004.11:g.187118744G>A	ClinGen:CA3162618	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.674+14T>C	285440	CYP4V2	Conflicting interpretations of pathogenicity	201205689	RCV001145950\|RCV001148735\|RCV002070764;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187118770	187118770	4:g.187118770T>C	-
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val)	285440	CYP4V2	Conflicting interpretations of pathogenicity	531538384	RCV000303735\|RCV000406483\|RCV001404855;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187120172	187120172	NC_000004.11:g.187120172C>G	ClinGen:CA3162640	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.759dup (p.His254fs)	285440	CYP4V2	Pathogenic	199476192	RCV000032546;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187120193	187120194	4:g.187120193_187120194insA	ClinGen:CA343737	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg)	285440	CYP4V2	Uncertain significance	199476193	RCV000032547\|RCV002513306;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187120197	187120197	4:g.187120197A>G	ClinGen:CA343738	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)	285440	CYP4V2	Uncertain significance	761190623	RCV001148736\|RCV001148737\|RCV001225922;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187120208	187120208	4:g.187120208C>A	-
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)	285440	CYP4V2	Benign	13146272	RCV000244699\|RCV000268361\|RCV000358574\|RCV001514369;	N	MedGen:CN169374\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187120211	187120211	NC_000004.11:g.187120211C>A	ClinGen:CA3162645,UniProtKB:Q6ZWL3#VAR_033821	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.801+1G>A	285440	CYP4V2	Pathogenic	761362530	RCV002267676;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187120238	187120238	187120238	-
NM_207352.4(CYP4V2):c.802-8_810delinsGC	285440	CYP4V2	Conflicting interpretations of pathogenicity	207482233	RCV000032548\|RCV000355196\|RCV000726829\|RCV001075704;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotyp	4	187122303	187122319	4:g.187122304_187122319del	ClinGen:CA343740,OMIM:608614.0006	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.802-7C>T	285440	CYP4V2	Benign	3817184	RCV000153130\|RCV000260351\|RCV000320079\|RCV001521790;	N	MedGen:CN169374\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187122304	187122304	4:g.187122304C>T	ClinGen:CA179957	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)	285440	CYP4V2	Benign	3736455	RCV000153131\|RCV000273389\|RCV000356224\|RCV001519769;	N	MedGen:CN169374\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187122319	187122319	4:g.187122319T>G	ClinGen:CA179958	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys)	285440	CYP4V2	Benign/Likely benign	34745240	RCV000245860\|RCV000333143\|RCV000387735\|RCV001523281;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187122332	187122332	4:g.187122332G>A	ClinGen:CA3162674,UniProtKB:Q6ZWL3#VAR_055379	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)	285440	CYP4V2	Uncertain significance	-1	RCV002470328;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187122342	187122342	NC_000004.11:g.187122342C>T	-
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)	285440	CYP4V2	Uncertain significance	913510827	RCV001144156\|RCV001144157\|RCV001352014;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187122350	187122350	4:g.187122350G>A	-
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)	285440	CYP4V2	Benign	3736456	RCV000153132\|RCV000288722\|RCV000325070\|RCV001514370;	N	MedGen:CN169374\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187122355	187122355	4:g.187122355T>C	ClinGen:CA179960	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)	285440	CYP4V2	Pathogenic	199476194	RCV000032549\|RCV002267722;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	4	187122467	187122467	4:g.187122467C>T	ClinGen:CA343741	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val)	285440	CYP4V2	Pathogenic	199476195	RCV000032550;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187122480	187122480	4:g.187122480A>T	ClinGen:CA343743	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile)	285440	CYP4V2	Uncertain significance	199476196	RCV000032551\|RCV001362372;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187122483	187122483	4:g.187122483C>T	ClinGen:CA343745	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.987+7T>C	285440	CYP4V2	Uncertain significance	1736302352	RCV001144158\|RCV001144159;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187122503	187122503	4:g.187122503T>C	-
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)	285440	CYP4V2	Pathogenic	199476197	RCV000032552\|RCV000490060\|RCV001074450;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:00	4	187126358	187126358	4:g.187126358A>C	OMIM:608614.0007,ClinGen:CA343747,UniProtKB:Q6ZWL3#VAR_023089	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)	285440	CYP4V2	Pathogenic	199476198	RCV000032525\|RCV001852653;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187126386	187126386	4:g.187126386G>A	ClinGen:CA343703	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro)	285440	CYP4V2	Pathogenic	199476199	RCV000032526;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187126387	187126387	4:g.187126387T>C	ClinGen:CA343705,UniProtKB:Q6ZWL3#VAR_023090	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)	285440	CYP4V2	Uncertain significance	1736463662	RCV001144160\|RCV001146043;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187126428	187126428	4:g.187126428A>G	-
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=)	285440	CYP4V2	Benign	10029149	RCV000291866\|RCV000384334\|RCV001514172;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187126449	187126449	NC_000004.11:g.187126449C>T	ClinGen:CA3162733	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1091-15A>G	285440	CYP4V2	Conflicting interpretations of pathogenicity	1300763823	RCV001146044\|RCV001146045\|RCV002070766;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202	4	187130004	187130004	4:g.187130004A>G	-
NM_207352.4(CYP4V2):c.1091-4T>A	285440	CYP4V2	Benign/Likely benign	61748269	RCV000339797\|RCV000391112\|RCV000968046;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130015	187130015	NC_000004.11:g.187130015T>A	ClinGen:CA3162758	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1091-2A>G	285440	CYP4V2	Pathogenic	199476183	RCV000002275\|RCV001851576;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130017	187130017	4:g.187130017A>G	ClinGen:CA339958,OMIM:608614.0005	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)	285440	CYP4V2	Uncertain significance	138739819	RCV001146046\|RCV001148837\|RCV002032372\|RCV002557124;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	4	187130031	187130031	4:g.187130031G>A	-
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)	285440	CYP4V2	Uncertain significance	376015936	RCV001148838\|RCV001148839\|RCV001363608\|RCV003163331;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	4	187130048	187130048	4:g.187130048G>T	-
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer)	285440	CYP4V2	Pathogenic	1579976512	RCV001003004;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187130050	187130050	4:g.187130050_187130050del	-
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr)	285440	CYP4V2	Pathogenic	199476200	RCV000032527;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187130085	187130085	4:g.187130085A>C	ClinGen:CA343706	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His)	285440	CYP4V2	Pathogenic	199476201	RCV000032528\|RCV001358595;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130097	187130097	4:g.187130097G>A	ClinGen:CA343708	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu)	285440	CYP4V2	Likely pathogenic	199476201	RCV000987493\|RCV001869345;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130097	187130097	4:g.187130097G>T	-
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)	285440	CYP4V2	Uncertain significance	143711287	RCV001148840\|RCV001148841\|RCV002032382;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130112	187130112	4:g.187130112T>C	-
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu)	285440	CYP4V2	Uncertain significance	199476202	RCV000032529\|RCV001852654;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130115	187130115	4:g.187130115C>T	ClinGen:CA343710	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)	285440	CYP4V2	Conflicting interpretations of pathogenicity	138444697	RCV000032530\|RCV000368904;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130126	187130126	4:g.187130126C>T	ClinGen:CA343712	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)	285440	CYP4V2	Pathogenic/Likely pathogenic	199476203	RCV000032531\|RCV000659009;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130127	187130127	4:g.187130127G>A	ClinGen:CA343714	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter)	285440	CYP4V2	Pathogenic	2126600867	RCV002272687;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187130147	187130147	187130147	-
NM_207352.4(CYP4V2):c.1225+14A>G	285440	CYP4V2	Uncertain significance	886059282	RCV000343164\|RCV000405205;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187130167	187130167	NC_000004.11:g.187130167A>G	ClinGen:CA10617506	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1226-6_1235del	285440	CYP4V2	Pathogenic	199476184	RCV000032532;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187130241	187130256	4:g.187130241_187130256del	ClinGen:CA343716	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu)	285440	CYP4V2	Uncertain significance	144008429	RCV000298644\|RCV000355789\|RCV001055970;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130310	187130310	NC_000004.11:g.187130310C>T	ClinGen:CA3162819	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)	285440	CYP4V2	Conflicting interpretations of pathogenicity	72646291	RCV000594902\|RCV001150364\|RCV001150365\|RCV001429168;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130349	187130349	4:g.187130349G>A	ClinGen:CA3162830	CN169374 not specified;
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	35524919	RCV000311613\|RCV000405869\|RCV001517413;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130359	187130359	NC_000004.11:g.187130359C>G	ClinGen:CA3162833	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	35524919	RCV001150367\|RCV001150366\|RCV001417075;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130359	187130359	4:g.187130359C>T	-
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)	285440	CYP4V2	Uncertain significance	200623218	RCV000276069\|RCV000368375\|RCV001210445;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187130360	187130360	NC_000004.11:g.187130360G>A	ClinGen:CA3162835	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	72646292	RCV001144278\|RCV001144279\|RCV002070739;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187130365	187130365	4:g.187130365T>C	-
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter)	285440	CYP4V2	Pathogenic	199476204	RCV000032533\|RCV001046642;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187130369	187130369	4:g.187130369C>T	ClinGen:CA343717,OMIM:608614.0008	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp)	285440	CYP4V2	Pathogenic	797045181	RCV000191926;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187130417	187130417	4:g.187130417A>G	ClinGen:CA276932,OMIM:608614.0009	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val)	285440	CYP4V2	Uncertain significance	762821992	RCV000333426\|RCV000362424\|RCV001342943;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187131640	187131640	NC_000004.11:g.187131640A>G	ClinGen:CA3162860	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)	285440	CYP4V2	Pathogenic	146494374	RCV000032534;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187131662	187131662	4:g.187131662C>A	ClinGen:CA343719	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)	285440	CYP4V2	Conflicting interpretations of pathogenicity	141950964	RCV000174190\|RCV000270346\|RCV000327801\|RCV000903076;	N	MedGen:CN169374\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187131663	187131663	4:g.187131663G>A	ClinGen:CA200875	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)	285440	CYP4V2	Conflicting interpretations of pathogenicity	119103284	RCV000002273\|RCV001238176;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187131740	187131740	4:g.187131740G>A	ClinGen:CA339956,UniProtKB:Q6ZWL3#VAR_023091,OMIM:608614.0003	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu)	285440	CYP4V2	Pathogenic	199476205	RCV000032535;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187131743	187131743	4:g.187131743C>T	ClinGen:CA343721	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=)	285440	CYP4V2	Benign/Likely benign	72646298	RCV000283245\|RCV000384580\|RCV000968047;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187131753	187131753	NC_000004.11:g.187131753C>T	ClinGen:CA3162890	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*4T>C	285440	CYP4V2	Conflicting interpretations of pathogenicity	76978024	RCV000153135\|RCV000321446\|RCV000378377;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187131799	187131799	4:g.187131799T>C	ClinGen:CA179962	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*160A>G	285440	CYP4V2	Uncertain significance	187506967	RCV001146162\|RCV001146163;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187131955	187131955	4:g.187131955A>G	-
NM_207352.4(CYP4V2):c.*172T>C	285440	CYP4V2	Uncertain significance	1043961395	RCV001146164\|RCV001146165;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187131967	187131967	4:g.187131967T>C	-
NM_207352.4(CYP4V2):c.*175A>G	285440	CYP4V2	Uncertain significance	192122143	RCV000286343\|RCV000334385;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187131970	187131970	NC_000004.11:g.187131970A>G	ClinGen:CA10620659	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*210dup	285440	CYP4V2	Benign/Likely benign	199938898	RCV000280770\|RCV000393558\|RCV001613150;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN517202	4	187131993	187131994	NC_000004.11:g.187132005dup	ClinGen:CA10620623	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*198A>T	285440	CYP4V2	Uncertain significance	150697121	RCV001148970\|RCV001148969;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187131993	187131993	4:g.187131993A>T	-
NM_207352.4(CYP4V2):c.*204T>C	285440	CYP4V2	Uncertain significance	577711483	RCV001148971\|RCV001148972;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187131999	187131999	4:g.187131999T>C	-
NM_207352.4(CYP4V2):c.*232G>A	285440	CYP4V2	Uncertain significance	145900260	RCV001148973\|RCV001148974;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132027	187132027	4:g.187132027G>A	-
NM_207352.4(CYP4V2):c.*282A>C	285440	CYP4V2	Uncertain significance	994768815	RCV001148975\|RCV001150485;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132077	187132077	4:g.187132077A>C	-
NM_207352.4(CYP4V2):c.*364T>A	285440	CYP4V2	Uncertain significance	7697077	RCV000338093\|RCV000403319;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132159	187132159	NC_000004.11:g.187132159T>A	ClinGen:CA10617511	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*364T>G	285440	CYP4V2	Benign	7697077	RCV000314055\|RCV000371084;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132159	187132159	NC_000004.11:g.187132159T>G	ClinGen:CA10620660	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*392G>A	285440	CYP4V2	Uncertain significance	185369023	RCV000308230\|RCV000404407;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132187	187132187	NC_000004.11:g.187132187G>A	ClinGen:CA10618429	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*449C>T	285440	CYP4V2	Uncertain significance	1736705065	RCV001144392\|RCV001144393;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132244	187132244	4:g.187132244C>T	-
NM_207352.4(CYP4V2):c.*452C>T	285440	CYP4V2	Uncertain significance	564129543	RCV000272803\|RCV000365059;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132247	187132247	NC_000004.11:g.187132247C>T	ClinGen:CA10618430	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*636A>G	285440	CYP4V2	Uncertain significance	1736711167	RCV001144394\|RCV001144395;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132431	187132431	4:g.187132431A>G	-
NM_207352.4(CYP4V2):c.*659A>G	285440	CYP4V2	Uncertain significance	886059284	RCV000302235\|RCV000359358;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132454	187132454	NC_000004.11:g.187132454A>G	ClinGen:CA10620664	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*715C>T	285440	CYP4V2	Uncertain significance	770372165	RCV000267297\|RCV000324782;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132510	187132510	4:g.187132510C>T	ClinGen:CA10617514	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*725C>T	285440	CYP4V2	Benign	10033577	RCV000261289\|RCV000372346;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132520	187132520	4:g.187132520C>T	ClinGen:CA10618433	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*741C>T	285440	CYP4V2	Benign	10033581	RCV000319021\|RCV000376007;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132536	187132536	4:g.187132536C>T	ClinGen:CA10620667	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*810C>G	285440	CYP4V2	Uncertain significance	11947391	RCV001149086\|RCV001149085;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132605	187132605	4:g.187132605C>G	-
NM_207352.4(CYP4V2):c.*829C>T	285440	CYP4V2	Uncertain significance	886059285	RCV000293289\|RCV000350529;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132624	187132624	4:g.187132624C>T	ClinGen:CA10620675	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*836C>A	285440	CYP4V2	Uncertain significance	535179510	RCV001149087\|RCV001150596;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132631	187132631	4:g.187132631C>A	-
NM_207352.4(CYP4V2):c.*888G>A	285440	CYP4V2	Uncertain significance	769774997	RCV000295716\|RCV000387655;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132683	187132683	4:g.187132683G>A	ClinGen:CA10620683	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*923G>A	285440	CYP4V2	Uncertain significance	943194261	RCV001150598\|RCV001150597;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132718	187132718	4:g.187132718G>A	-
NM_207352.4(CYP4V2):c.*999C>T	285440	CYP4V2	Uncertain significance	556923527	RCV001150599\|RCV001150600;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132794	187132794	4:g.187132794C>T	-
NM_207352.4(CYP4V2):c.1023_1026del	285440	CYP4V2	Uncertain significance	886059286	RCV000343653\|RCV000407547;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132815	187132818	4:g.187132815_187132818del	ClinGen:CA10620624	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1023_1024del	285440	CYP4V2	Uncertain significance	886059287	RCV000309556\|RCV000348016;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132817	187132818	4:g.187132817_187132818del	ClinGen:CA10620684	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1025CA[19]	285440	CYP4V2	Uncertain significance	60425964	RCV000297708\|RCV000354873;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132818	187132819	4:g.187132818_187132819insACACAC	ClinGen:CA10617517	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1023T>C	285440	CYP4V2	Uncertain significance	62348764	RCV000303628\|RCV000402673;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132818	187132818	4:g.187132818T>C	ClinGen:CA10618435	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1025CA[18]	285440	CYP4V2	Uncertain significance	60425964	RCV000268220\|RCV000360613;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132818	187132819	4:g.187132818_187132819insACAC	ClinGen:CA10618437	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1027C>T	285440	CYP4V2	Conflicting interpretations of pathogenicity	541778964	RCV000262151\|RCV000319706;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132822	187132822	4:g.187132822C>T	ClinGen:CA10618436	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1052A>T	285440	CYP4V2	Uncertain significance	961919705	RCV001144505\|RCV001144504;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132847	187132847	4:g.187132847A>T	-
NM_207352.4(CYP4V2):c.*1053C>T	285440	CYP4V2	Uncertain significance	62348765	RCV000283161\|RCV000384651;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132848	187132848	4:g.187132848C>T	ClinGen:CA10617518	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1056_1057insCATACA	285440	CYP4V2	Uncertain significance	1554075269	RCV000333528\|RCV000381066;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132848	187132849	4:g.187132848_187132849insACACAT	ClinGen:CA10617519	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1054_1055insTA	285440	CYP4V2	Uncertain significance	144125100	RCV000288905\|RCV000346230;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132848	187132849	4:g.187132848_187132849insAT	ClinGen:CA10620625	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1056_1057insCACACATACA	285440	CYP4V2	Uncertain significance	1554075269	RCV000275244\|RCV000385954;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132848	187132849	4:g.187132848_187132849insACACACACAT	ClinGen:CA10620695	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACACATACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000277649\|RCV000325652;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACACACATACAC	ClinGen:CA10618440	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000305076\|RCV000334310;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACACACAC	ClinGen:CA10620626	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000299629\|RCV000405099;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACACACACACAC	ClinGen:CA10620627	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000312380\|RCV000369445;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACACACACACACACACACATACAC	ClinGen:CA10620628	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1059CA[5]	285440	CYP4V2	Uncertain significance	58524374	RCV000284688\|RCV000323312;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132852	187132853	NC_000004.11:g.187132854CA[5]	ClinGen:CA10620639	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057T>C	285440	CYP4V2	Uncertain significance	62348766	RCV000279040\|RCV000380500;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132852	187132852	4:g.187132852T>C	ClinGen:CA10620696	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000340628\|RCV000390978;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACACAC	ClinGen:CA10620701	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000356771\|RCV000403070;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:CN239343	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACACACACACACACACAC	ClinGen:CA10620702	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACATACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000271858\|RCV000364101;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132852	187132852	NC_000004.11:g.187132852delinsCACACATACAC	ClinGen:CA10620706	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACATACAC	285440	CYP4V2	Uncertain significance	869178465	RCV000329024\|RCV000376669;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132852	187132852	NC_000004.11:g.187132852delinsCACATACAC	ClinGen:CA10620707	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1123_1127del	285440	CYP4V2	Uncertain significance	574084304	RCV000336314\|RCV000393774;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187132914	187132918	NC_000004.11:g.187132918_187132922del	ClinGen:CA10617522	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1148A>G	285440	CYP4V2	Benign	10011736	RCV000282669\|RCV000349258;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132943	187132943	NC_000004.11:g.187132943A>G	ClinGen:CA10620640	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1159T>A	285440	CYP4V2	Uncertain significance	565805219	RCV000314396\|RCV000393783;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187132954	187132954	NC_000004.11:g.187132954T>A	ClinGen:CA10617524	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1236A>T	285440	CYP4V2	Benign	1053094	RCV000362119\|RCV000405427\|RCV001672641;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900	4	187133031	187133031	NC_000004.11:g.187133031A>T	ClinGen:CA10617527	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1238C>T	285440	CYP4V2	Uncertain significance	180813595	RCV001149211\|RCV001149210;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133033	187133033	4:g.187133033C>T	-
NM_207352.4(CYP4V2):c.*1317T>C	285440	CYP4V2	Uncertain significance	886059291	RCV000313156\|RCV000367772;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133112	187133112	NC_000004.11:g.187133112T>C	ClinGen:CA10618443	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1417T>A	285440	CYP4V2	Uncertain significance	886059292	RCV000263697\|RCV000318941;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133212	187133212	NC_000004.11:g.187133212T>A	ClinGen:CA10620710	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1463G>C	285440	CYP4V2	Uncertain significance	549421198	RCV001149212\|RCV001150709;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133258	187133258	4:g.187133258G>C	-
NM_207352.4(CYP4V2):c.*1474G>T	285440	CYP4V2	Conflicting interpretations of pathogenicity	77175303	RCV001150710\|RCV001150711;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133269	187133269	4:g.187133269G>T	-
NM_207352.4(CYP4V2):c.*1496G>C	285440	CYP4V2	Uncertain significance	1736743651	RCV001150712\|RCV001150713;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133291	187133291	4:g.187133291G>C	-
NM_207352.4(CYP4V2):c.*1503A>C	285440	CYP4V2	Conflicting interpretations of pathogenicity	55678259	RCV001150714\|RCV001720277;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187133298	187133298	4:g.187133298A>C	-
NM_207352.4(CYP4V2):c.*1589C>T	285440	CYP4V2	Uncertain significance	144839540	RCV001150715\|RCV001150716;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133384	187133384	4:g.187133384C>T	-
NM_207352.4(CYP4V2):c.*1638G>A	285440	CYP4V2	Benign/Likely benign	72646300	RCV000260161\|RCV000354947\|RCV001672642;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187133433	187133433	NC_000004.11:g.187133433G>A	ClinGen:CA10620642	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1690C>T	285440	CYP4V2	Uncertain significance	536605930	RCV001144616\|RCV001144615;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133485	187133485	4:g.187133485C>T	-
NM_207352.4(CYP4V2):c.*1705C>T	285440	CYP4V2	Uncertain significance	1736750061	RCV001144617\|RCV001144618;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133500	187133500	4:g.187133500C>T	-
NM_207352.4(CYP4V2):c.*1721A>G	285440	CYP4V2	Uncertain significance	925222658	RCV001144619\|RCV001144620;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133516	187133516	4:g.187133516A>G	-
NM_207352.4(CYP4V2):c.*1722T>C	285440	CYP4V2	Uncertain significance	1736750645	RCV001146551\|RCV001146552;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133517	187133517	4:g.187133517T>C	-
NM_207352.4(CYP4V2):c.*1737A>G	285440	CYP4V2	Conflicting interpretations of pathogenicity	78965616	RCV000324587\|RCV000379092;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133532	187133532	NC_000004.11:g.187133532A>G	ClinGen:CA10620648	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1756T>C	285440	CYP4V2	Uncertain significance	1046943032	RCV001146553\|RCV001146554;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133551	187133551	4:g.187133551T>C	-
NM_207352.4(CYP4V2):c.*1774C>T	285440	CYP4V2	Uncertain significance	779828762	RCV000284732\|RCV000321078;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133569	187133569	NC_000004.11:g.187133569C>T	ClinGen:CA10618444	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1781A>C	285440	CYP4V2	Benign	6842047	RCV000290603\|RCV000384730\|RCV001712137;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187133576	187133576	NC_000004.11:g.187133576A>C	ClinGen:CA10618446	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1851A>G	285440	CYP4V2	Uncertain significance	886059293	RCV000345533\|RCV000381406;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133646	187133646	NC_000004.11:g.187133646A>G	ClinGen:CA10618449	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1967C>T	285440	CYP4V2	Uncertain significance	886059294	RCV000296044\|RCV000350968;	N	MedGen:CN239343\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133762	187133762	NC_000004.11:g.187133762C>T	ClinGen:CA10618455	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1986G>A	285440	CYP4V2	Uncertain significance	146050895	RCV001149317\|RCV001149318;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133781	187133781	4:g.187133781G>A	-
NM_207352.4(CYP4V2):c.*2010G>A	285440	CYP4V2	Uncertain significance	190455204	RCV001150820\|RCV001150821;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133805	187133805	4:g.187133805G>A	-
NM_207352.4(CYP4V2):c.*2017T>C	285440	CYP4V2	Uncertain significance	886059295	RCV000311285\|RCV000393019;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133812	187133812	NC_000004.11:g.187133812T>C	ClinGen:CA10618458	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2078T>C	285440	CYP4V2	Uncertain significance	531522779	RCV001150823\|RCV001150822;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187133873	187133873	4:g.187133873T>C	-
NM_207352.4(CYP4V2):c.*2106G>T	285440	CYP4V2	Benign/Likely benign	72646302	RCV000338240\|RCV000403840;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133901	187133901	NC_000004.11:g.187133901G>T	ClinGen:CA10620654	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2116A>C	285440	CYP4V2	Uncertain significance	1736768091	RCV001144708\|RCV001144707;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133911	187133911	4:g.187133911A>C	-
NM_207352.4(CYP4V2):c.*2139G>A	285440	CYP4V2	Uncertain significance	546961288	RCV001144710\|RCV001144709;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133934	187133934	4:g.187133934G>A	-
NM_207352.4(CYP4V2):c.*2163G>A	285440	CYP4V2	Uncertain significance	565869902	RCV001144711\|RCV001144712;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133958	187133958	4:g.187133958G>A	-
NM_207352.4(CYP4V2):c.*2166C>G	285440	CYP4V2	Conflicting interpretations of pathogenicity	192436436	RCV001144713\|RCV001144714;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133961	187133961	4:g.187133961C>G	-
NM_207352.4(CYP4V2):c.*2176T>C	285440	CYP4V2	Uncertain significance	543284486	RCV000298538\|RCV000353437;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133971	187133971	NC_000004.11:g.187133971T>C	ClinGen:CA10617533	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2189A>G	285440	CYP4V2	Uncertain significance	537197865	RCV001146670\|RCV001146671;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187133984	187133984	4:g.187133984A>G	-
NM_207352.4(CYP4V2):c.*2266A>G	285440	CYP4V2	Uncertain significance	934968593	RCV001146672\|RCV001146673;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134061	187134061	4:g.187134061A>G	-
NM_207352.4(CYP4V2):c.*2281A>G	285440	CYP4V2	Uncertain significance	759670605	RCV001146674\|RCV001146675;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187134076	187134076	4:g.187134076A>G	-
NM_207352.4(CYP4V2):c.*2303G>C	285440	CYP4V2	Benign/Likely benign	576134216	RCV000268042\|RCV000304411;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134098	187134098	NC_000004.11:g.187134098G>C	ClinGen:CA10617534	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2373G>C	285440	CYP4V2	Uncertain significance	572480731	RCV001147579\|RCV001147580;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134168	187134168	4:g.187134168G>C	-
NM_207352.4(CYP4V2):c.*2399C>T	285440	CYP4V2	Benign	56413992	RCV000264412\|RCV000359163\|RCV001636972;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|MedGen:C3661900	4	187134194	187134194	NC_000004.11:g.187134194C>T	ClinGen:CA10620725	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2590T>C	285440	CYP4V2	Uncertain significance	532291947	RCV001147582\|RCV001147581;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134385	187134385	4:g.187134385T>C	-
NM_207352.4(CYP4V2):c.*2622A>T	285440	CYP4V2	Uncertain significance	561265305	RCV000328778\|RCV000383422;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751	4	187134417	187134417	NC_000004.11:g.187134417A>T	ClinGen:CA10617536	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2708A>G	285440	CYP4V2	Uncertain significance	1463658668	RCV001150906\|RCV001150905;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134503	187134503	4:g.187134503A>G	-
NM_207352.4(CYP4V2):c.*2748A>G	285440	CYP4V2	Uncertain significance	111816209	RCV000270237\|RCV000325295;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134543	187134543	NC_000004.11:g.187134543A>G	ClinGen:CA10620671	C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*2751A>G	285440	CYP4V2	Uncertain significance	963988307	RCV001150908\|RCV001150907;	N	MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	4	187134546	187134546	4:g.187134546A>G	-

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