ClinVar for Gene (Select 1638) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3043102	NM_001922.5(DCT):c.757G>A (p.Glu253Lys)	DCT (E190K +1 more)	Single nucleotide variant (missense variant +1 more)	DCT-related condition	GLikely benign
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 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +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	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	ABCC4, BIVM +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1411402	NC_000013.10:g.(?_95034648)_(96443284_?)dup	ABCC4, CLDN10 +7 more	Duplication	not provided	GUncertain significance
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
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 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 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 (intron variant +1 more)	not provided	GUncertain significance
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1064200	NC_000013.10:g.(?_94938593)_(95102698_?)dup	DCT, GPC6	Duplication	not provided	GUncertain significance
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 930182	NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer)	DCT	Deletion (nonsense)	Oculocutaneous albinism type 8 +1 more	GPathogenic/Likely pathogenic
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 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 815611	GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3	ABCC4, HS6ST3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
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 717314	NM_001922.5(DCT):c.342C>T (p.Thr114=)	DCT	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 564071	GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3	GPC5, SOX21 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564061	GRCh37/hg19 13q31.3-32.1(chr13:94857382-96639428)x3	SOX21, DCT +8 more	Copy number gain	not provided	GUncertain significance
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABHD13, ADPRHL1 +98 more	Copy number gain	See cases	GPathogenic
Select item 443074	GRCh37/hg19 13q31.3-32.1(chr13:94522837-95111524)x3	DCT, GPC6	Copy number gain	See cases	GUncertain significance
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442700	GRCh37/hg19 13q31.3-32.1(chr13:94521536-95111513)x3	DCT, GPC6	Copy number gain	See cases	GUncertain significance
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	ABCC4, ABHD13 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ERCC5, F10 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 395197	GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1	ABCC4, CLDN10 +43 more	Copy number loss	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic

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