9439[HGNC] - 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 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 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 773036	NM_006260.5(DNAJC3):c.60C>T (p.Val20=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 710813	NM_006260.5(DNAJC3):c.78C>T (p.Tyr26=)	DNAJC3	Single nucleotide variant (synonymous 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 3050286	NM_006260.5(DNAJC3):c.111T>A (p.Val37=)	DNAJC3	Single nucleotide variant (synonymous variant)	DNAJC3-related disorder	GLikely benign
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 724566	NM_006260.5(DNAJC3):c.162T>G (p.Ala54=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 735587	NM_006260.5(DNAJC3):c.297A>G (p.Gln99=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
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 2401439	NM_006260.5(DNAJC3):c.420A>C (p.Glu140Asp)	DNAJC3 (E140D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 794614	NM_006260.5(DNAJC3):c.456T>C (p.Asp152=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162620	NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter)	DNAJC3 (R194*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate +1 more	GConflicting classifications of pathogenicity
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 3084576	NM_006260.5(DNAJC3):c.671C>G (p.Ala224Gly)	DNAJC3 (A224G)	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 3045640	NM_006260.5(DNAJC3):c.729-3C>T	DNAJC3	Single nucleotide variant (intron variant)	DNAJC3-related disorder	GLikely benign
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 3084577	NM_006260.5(DNAJC3):c.729T>C (p.Ser243=)	DNAJC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 284509	NM_006260.5(DNAJC3):c.808A>C (p.Lys270Gln)	DNAJC3 (K270Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768623	NM_006260.5(DNAJC3):c.848+10T>C	DNAJC3	Single nucleotide variant (intron variant)	not provided	GBenign
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 2603017	NM_006260.5(DNAJC3):c.1012G>C (p.Asp338His)	DNAJC3 (D338H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 708443	NM_006260.5(DNAJC3):c.1036C>A (p.Arg346=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3084573	NM_006260.5(DNAJC3):c.1049A>G (p.Tyr350Cys)	DNAJC3 (Y350C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2285057	NM_006260.5(DNAJC3):c.1097C>G (p.Ala366Gly)	DNAJC3 (A366G)	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 429787	NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter)	DNAJC3 (R393*)	Single nucleotide variant (nonsense)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome +1 more	GPathogenic/Likely pathogenic
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 729416	NM_006260.5(DNAJC3):c.1209-7C>A	DNAJC3	Single nucleotide variant (intron 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 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 1684693	NM_006260.5(DNAJC3):c.1267C>T (p.Pro423Ser)	DNAJC3 (P423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 985483	NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs)	DNAJC3 (K433fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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 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 3051786	NM_006260.5(DNAJC3):c.1323T>A (p.Asp441Glu)	DNAJC3 (D441E)	Single nucleotide variant (missense variant)	DNAJC3-related disorder	GLikely benign
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 1693486	NM_006260.5(DNAJC3):c.1367_1370del (p.Lys456fs)	DNAJC3 (K456fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 739981	NM_006260.5(DNAJC3):c.1377C>T (p.Asp459=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	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 2643877	NM_006260.5(DNAJC3):c.1422C>T (p.Gly474=)	DNAJC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2612620	NM_006260.5(DNAJC3):c.1475G>C (p.Ser492Thr)	DNAJC3 (S492T)	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 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 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 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 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 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

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