ClinVar for Gene (Select 5611) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273132	NM_006260.5(DNAJC3):c.1048T>C (p.Tyr350His)	DNAJC3 (Y350H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273131	NM_006260.5(DNAJC3):c.137A>G (p.Lys46Arg)	DNAJC3 (K46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273130	NM_006260.5(DNAJC3):c.394C>T (p.Leu132Phe)	DNAJC3 (L132F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236345	NM_006260.5(DNAJC3):c.729-1G>A	DNAJC3	Single nucleotide variant (splice acceptor variant)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	GUncertain significance
Select item 3084578	NM_006260.5(DNAJC3):c.976A>G (p.Ile326Val)	DNAJC3 (I326V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084577	NM_006260.5(DNAJC3):c.729T>C (p.Ser243=)	DNAJC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3084576	NM_006260.5(DNAJC3):c.671C>G (p.Ala224Gly)	DNAJC3 (A224G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084575	NM_006260.5(DNAJC3):c.653A>C (p.Lys218Thr)	DNAJC3 (K218T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084574	NM_006260.5(DNAJC3):c.377A>G (p.Asp126Gly)	DNAJC3 (D126G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084573	NM_006260.5(DNAJC3):c.1049A>G (p.Tyr350Cys)	DNAJC3 (Y350C)	Single nucleotide variant (missense variant)	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 3051786	NM_006260.5(DNAJC3):c.1323T>A (p.Asp441Glu)	DNAJC3 (D441E)	Single nucleotide variant (missense variant)	DNAJC3-related disorder	GLikely benign
Select item 3050332	NM_006260.5(DNAJC3):c.1398T>C (p.Asp466=)	DNAJC3	Single nucleotide variant (synonymous variant)	DNAJC3-related disorder	GLikely benign
Select item 3050286	NM_006260.5(DNAJC3):c.111T>A (p.Val37=)	DNAJC3	Single nucleotide variant (synonymous variant)	DNAJC3-related disorder	GLikely benign
Select item 3045640	NM_006260.5(DNAJC3):c.729-3C>T	DNAJC3	Single nucleotide variant (intron variant)	DNAJC3-related disorder	GLikely benign
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 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 2643877	NM_006260.5(DNAJC3):c.1422C>T (p.Gly474=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612620	NM_006260.5(DNAJC3):c.1475G>C (p.Ser492Thr)	DNAJC3 (S492T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603017	NM_006260.5(DNAJC3):c.1012G>C (p.Asp338His)	DNAJC3 (D338H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528464	NM_006260.5(DNAJC3):c.1469C>A (p.Pro490His)	DNAJC3 (P490H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468724	NM_006260.5(DNAJC3):c.1201G>C (p.Val401Leu)	DNAJC3 (V401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425403	NC_000013.10:g.(?_93879710)_(96443284_?)dup	ABCC4, CLDN10 +7 more	Duplication	not provided	GUncertain significance
Select item 2401439	NM_006260.5(DNAJC3):c.420A>C (p.Glu140Asp)	DNAJC3 (E140D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385164	NM_006260.5(DNAJC3):c.1116T>G (p.Asn372Lys)	DNAJC3 (N372K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327125	NM_006260.5(DNAJC3):c.749A>T (p.Lys250Ile)	DNAJC3 (K250I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319722	NM_006260.5(DNAJC3):c.61C>G (p.Leu21Val)	DNAJC3 (L21V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285057	NM_006260.5(DNAJC3):c.1097C>G (p.Ala366Gly)	DNAJC3 (A366G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238548	NM_006260.5(DNAJC3):c.719T>C (p.Leu240Pro)	DNAJC3 (L240P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808585	GRCh37/hg19 13q32.1(chr13:96125428-96424697)x3	CLDN10, DNAJC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +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 1803129	NM_006260.5(DNAJC3):c.1305del (p.Glu436fs)	DNAJC3 (E436fs)	Deletion (frameshift variant)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	GLikely pathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +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)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1693488	NM_006260.5(DNAJC3):c.1036C>T (p.Arg346Ter)	DNAJC3	Single nucleotide variant (nonsense)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	GPathogenic
Select item 1693487	NM_006260.5(DNAJC3):c.1A>G (p.Met1Val)	DNAJC3	Single nucleotide variant (missense variant +1 more)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	GPathogenic
Select item 1693486	NM_006260.5(DNAJC3):c.1367_1370del (p.Lys456fs)	DNAJC3 (K456fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1693485	NM_006260.5(DNAJC3):c.393+2T>C	DNAJC3	Single nucleotide variant (splice donor variant)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	GPathogenic
Select item 1693484	NM_006260.5(DNAJC3):c.393+2T>G	DNAJC3	Single nucleotide variant (splice donor variant)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	GPathogenic
Select item 1684694	NM_006260.5(DNAJC3):c.1349C>G (p.Ser450Cys)	DNAJC3 (S450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684693	NM_006260.5(DNAJC3):c.1267C>T (p.Pro423Ser)	DNAJC3 (P423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684692	NM_006260.5(DNAJC3):c.206A>G (p.Asp69Gly)	DNAJC3 (D69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +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	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1338113	NM_006260.5(DNAJC3):c.1297A>G (p.Lys433Glu)	DNAJC3 (K433E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
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 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988565	NM_006260.5(DNAJC3):c.1243C>T (p.Arg415Ter)	DNAJC3 (R415*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985483	NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs)	DNAJC3 (K433fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 979989	GRCh37/hg19 13q32.1(chr13:96225567-96456089)x3	CLDN10, UGGT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
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	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 794614	NM_006260.5(DNAJC3):c.456T>C (p.Asp152=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773036	NM_006260.5(DNAJC3):c.60C>T (p.Val20=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768623	NM_006260.5(DNAJC3):c.848+10T>C	DNAJC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 760773	NM_006260.5(DNAJC3):c.83-10T>C	DNAJC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739981	NM_006260.5(DNAJC3):c.1377C>T (p.Asp459=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737726	NM_006260.5(DNAJC3):c.1242C>T (p.Tyr414=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 735587	NM_006260.5(DNAJC3):c.297A>G (p.Gln99=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729416	NM_006260.5(DNAJC3):c.1209-7C>A	DNAJC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724566	NM_006260.5(DNAJC3):c.162T>G (p.Ala54=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 717316	NM_006260.5(DNAJC3):c.1060G>C (p.Glu354Gln)	DNAJC3 (E354Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 710813	NM_006260.5(DNAJC3):c.78C>T (p.Tyr26=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708443	NM_006260.5(DNAJC3):c.1036C>A (p.Arg346=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
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	TGDS, TM9SF2 +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)	FGF9, FLT1 +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

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