ClinVar for Gene (Select 407975) - 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 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	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 3061214	NR_027349.1(MIR17HG):n.285-301A>G	MIR17HG	Single nucleotide variant (intron variant +1 more)	MIR17HG-related condition	GUncertain significance
Select item 3060743	NR_027350.1(MIR17HG):n.3326C>T	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GBenign
Select item 3059792	NR_027350.1(MIR17HG):n.5011T>C	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3059111	NR_027350.1(MIR17HG):n.1998C>T	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3050195	NR_027350.1(MIR17HG):n.994A>G	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3046176	NR_027350.1(MIR17HG):n.445C>T	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3045929	NR_027349.1(MIR17HG):n.284+22dupT	MIR17HG	Duplication (non-coding transcript variant +1 more)	MIR17HG-related condition	GLikely benign
Select item 3039825	NR_027350.1(MIR17HG):n.1287A>G	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3036056	NR_027349.1(MIR17HG):n.213+123A>G	MIR17HG	Single nucleotide variant (non-coding transcript variant +1 more)	MIR17HG-related condition	GLikely benign
Select item 3034882	NR_027350.1(MIR17HG):n.1450G>T	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3033536	NR_027350.1(MIR17HG):n.836C>G	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GBenign
Select item 3032970	NR_027350.1(MIR17HG):n.3584C>A	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3030832	NR_027350.1(MIR17HG):n.4526T>G	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3029756	NR_027350.1(MIR17HG):n.3522C>T	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
Select item 3029569	NR_027350.1(MIR17HG):n.3827A>G	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GLikely benign
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 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 2636345	NR_027350.1(MIR17HG):n.3164C>T	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GUncertain significance
Select item 2635784	NR_027350.1(MIR17HG):n.1956CTTGT[1]	MIR17HG	Microsatellite (non-coding transcript variant)	MIR17HG-related condition	GUncertain significance
Select item 2634783	NR_027350.1(MIR17HG):n.4498T>C	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GUncertain significance
Select item 2634163	NR_027350.1(MIR17HG):n.192A>C	MIR17HG	Single nucleotide variant (non-coding transcript variant)	MIR17HG-related condition	GUncertain significance
Select item 2629400	NR_027350.1(MIR17HG):n.1011_1013del	MIR17HG	Deletion (non-coding transcript variant)	MIR17HG-related condition	GUncertain significance
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 1706490	GRCh37/hg19 13q31.3(chr13:91284502-92325104)x1	GPC5, MIR17 +6 more	Copy number loss	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 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 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	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 815605	GRCh37/hg19 13q31.3(chr13:91460305-92069153)x3	MIR19A, MIR17HG +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
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 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 560158	Single allele	GPC5, GPC6 +7 more	Duplication	not provided	GLikely pathogenic
Select item 503586	GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1	OBI1, POU4F1 +31 more	Copy number loss	See cases	GPathogenic
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 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	DNAJC3, DOCK9 +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	HTR2A, IFT88 +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	CDC16, COMMD6 +125 more	Copy number gain	See cases	GPathogenic
Select item 433155	NC_000013.11:g.(?_90698351)_(90699137_?)del	MIR17HG	Deletion	Feingold syndrome type 2	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 395407	GRCh37/hg19 13q31.1-31.3(chr13:86963003-93390362)x3	GPC5, MIR17 +8 more	Copy number gain	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)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253830	GRCh37/hg19 13q31.3(chr13:91209639-94704856)x3	GPC6, MIR92A1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 242850	GRCh37/hg19 13q31.3(chr13:90644219-92557099)x1	MIR19A, MIR17 +6 more	Copy number loss	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155095	GRCh38/hg38 13q31.3(chr13:91282882-91394459)x1	MIR18A, LOC130009949 +8 more	Copy number loss	See cases	GPathogenic
Select item 155027	GRCh38/hg38 13q31.3(chr13:91283077-91394459)x1	LOC130009949, LOC130009950 +8 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 153699	GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3	GPC5, LINC00333 +47 more	Copy number gain	See cases	GUncertain significance
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	ABCC4, CLDN10 +236 more	Copy number loss	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 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 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 148197	GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1	GPC5, GPC5-AS1 +52 more	Copy number loss	See cases	GLikely pathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130009970, LOC130009971 +638 more	Copy number gain	See cases	GPathogenic
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 58175	GRCh38/hg38 13q31.3(chr13:90973752-93097331)x1	GPC5, GPC5-AS1 +18 more	Copy number loss	See cases	GUncertain significance

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