1638[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 57679	GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1	ABCC4, CLDN10 +88 more	Copy number loss	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 57681	GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1	ABCC4, CLDN10 +73 more	Copy number loss	See cases	GPathogenic
Select item 153583	GRCh38/hg38 13q31.3-32.1(chr13:93869283-94459255)x3	DCT, GPC6 +2 more	Copy number gain	See cases	GUncertain significance
Select item 154923	GRCh38/hg38 13q31.3-32.1(chr13:93869706-94449189)x3	DCT, GPC6 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146519	GRCh38/hg38 13q31.3-32.1(chr13:93908109-94449189)x3	DCT, GPC6 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2326199	NM_001922.5(DCT):c.1553A>G (p.Glu518Gly)	DCT (E455G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080633	NM_001922.5(DCT):c.1540A>G (p.Arg514Gly)	DCT (R514G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392482	NM_001922.5(DCT):c.1531A>C (p.Ser511Arg)	DCT (S448R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1268232	NM_001922.5(DCT):c.1407G>A (p.Trp469Ter)	DCT (W469* +3 more)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 8	GPathogenic
Select item 2607824	NM_001922.5(DCT):c.1403G>T (p.Gly468Val)	DCT (G405V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3363891	NM_001922.5(DCT):c.1321A>G (p.Asn441Asp)	DCT (N130D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930182	NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer)	DCT	Deletion (nonsense)	Albinism +1 more	GPathogenic/Likely pathogenic
Select item 2234887	NM_001922.5(DCT):c.1282C>T (p.Arg428Trp)	DCT (R428W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547839	NM_001922.5(DCT):c.1276C>G (p.His426Asp)	DCT (H363D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468876	NM_001922.5(DCT):c.1270A>G (p.Ile424Val)	DCT (I424V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080632	NM_001922.5(DCT):c.1237C>T (p.Pro413Ser)	DCT (P446S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2612537	NM_001922.5(DCT):c.1221G>A (p.Met407Ile)	DCT (M407I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627016	NM_001922.5(DCT):c.1180-122A>G	DCT	Single nucleotide variant (intron variant)	Age related macular degeneration 7	Gassociation
Select item 3080631	NM_001922.5(DCT):c.1180-2098C>T	DCT (P421L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256823	NM_001922.5(DCT):c.1180-2111A>G	DCT (T417A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326813	NM_001922.5(DCT):c.1177G>A (p.Val393Met)	DCT (V330M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465662	NM_001922.5(DCT):c.1141G>A (p.Ala381Thr)	DCT (A381T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589241	NM_001922.5(DCT):c.1132G>T (p.Gly378Trp)	DCT (G67W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560228	NM_001922.5(DCT):c.1125C>A (p.Phe375Leu)	DCT (F64L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080629	NM_001922.5(DCT):c.1108A>C (p.Asn370His)	DCT (N307H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462159	NM_001922.5(DCT):c.1070C>A (p.Ala357Glu)	DCT (A294E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491814	NM_001922.5(DCT):c.1027T>G (p.Ser343Ala)	DCT (S32A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271152	NM_001922.5(DCT):c.1026C>A (p.Asn342Lys)	DCT (N279K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271951	NM_001922.5(DCT):c.914G>A (p.Gly305Asp)	DCT (G242D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1268231	NM_001922.5(DCT):c.876C>A (p.Tyr292Ter)	DCT (Y292* +1 more)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 8	GPathogenic
Select item 2542660	NM_001922.5(DCT):c.868G>T (p.Asp290Tyr)	DCT (D227Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555726	NM_001922.5(DCT):c.856T>C (p.Cys286Arg)	DCT (C223R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205893	NM_001922.5(DCT):c.833G>A (p.Arg278Lys)	DCT (R278K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 709290	NM_001922.5(DCT):c.824G>A (p.Arg275Gln)	DCT (R212Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2483759	NM_001922.5(DCT):c.803A>G (p.Asp268Gly)	DCT (D268G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597178	NM_001922.5(DCT):c.773C>T (p.Thr258Ile)	DCT (T195I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043102	NM_001922.5(DCT):c.757G>A (p.Glu253Lys)	DCT (E190K +1 more)	Single nucleotide variant (missense variant +1 more)	DCT-related disorder	GLikely benign
Select item 2371632	NM_001922.5(DCT):c.698G>T (p.Arg233Leu)	DCT (R170L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080639	NM_001922.5(DCT):c.668A>G (p.His223Arg)	DCT (H160R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080638	NM_001922.5(DCT):c.662G>A (p.Arg221Gln)	DCT (R158Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080637	NM_001922.5(DCT):c.661C>T (p.Arg221Trp)	DCT (R158W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551649	NM_001922.5(DCT):c.649G>A (p.Val217Ile)	DCT (V154I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080636	NM_001922.5(DCT):c.604C>T (p.Arg202Cys)	DCT (R139C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080635	NM_001922.5(DCT):c.509A>C (p.Asn170Thr)	DCT (N170T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 730602	NM_001922.5(DCT):c.509A>G (p.Asn170Ser)	DCT (N170S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2335069	NM_001922.5(DCT):c.401G>A (p.Ser134Asn)	DCT (S134N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2497715	NM_001922.5(DCT):c.386A>T (p.Asn129Ile)	DCT (N129I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2279014	NM_001922.5(DCT):c.355G>A (p.Glu119Lys)	DCT (E119K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3080634	NM_001922.5(DCT):c.343G>A (p.Gly115Ser)	DCT (G115S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 717314	NM_001922.5(DCT):c.342C>T (p.Thr114=)	DCT	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2346809	NM_001922.5(DCT):c.334G>T (p.Gly112Cys)	DCT (G49C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2208007	NM_001922.5(DCT):c.260C>A (p.Pro87Gln)	DCT (P87Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520978	NM_001922.5(DCT):c.247C>T (p.Arg83Cys)	DCT (R83C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3352012	NM_001922.5(DCT):c.229C>G (p.Leu77Val)	DCT (L77V)	Single nucleotide variant (missense variant +1 more)	DCT-related disorder	GUncertain significance
Select item 3233659	NM_001922.5(DCT):c.212G>A (p.Trp71Ter)	DCT (W71*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 8	GPathogenic
Select item 929864	NM_001922.5(DCT):c.183C>G (p.Cys61Trp)	DCT (C61W)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8 +1 more	GPathogenic/Likely pathogenic
Select item 1268230	NM_001922.5(DCT):c.176G>T (p.Gly59Val)	DCT (G59V)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8	GPathogenic
Select item 1210050	NM_001922.5(DCT):c.125C>T (p.Pro42Leu)	DCT (P42L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 929863	NM_001922.5(DCT):c.118T>A (p.Cys40Ser)	DCT (C40S)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8 +1 more	GPathogenic/Likely pathogenic
Select item 3080630	NM_001922.5(DCT):c.113A>C (p.Lys38Thr)	DCT (K38T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2688920	NM_001922.5(DCT):c.100A>C (p.Ser34Arg)	DCT (S34R)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8	GUncertain significance
Select item 2253751	NM_001922.5(DCT):c.80G>A (p.Arg27Gln)	DCT (R27Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271151	NM_001922.5(DCT):c.77C>T (p.Pro26Leu)	DCT (P26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684707	GRCh37/hg19 13q31.3-32.1(chr13:94064930-95288392)x3	DCT, GPC6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2425403	NC_000013.10:g.(?_93879710)_(96443284_?)dup	ABCC4, CLDN10 +7 more	Duplication	not provided	GUncertain significance
Select item 2425401	NC_000013.10:g.(?_93879710)_(95248390_?)del	DCT, GPC6 +1 more	Deletion	not provided	GPathogenic

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