ClinVar for Gene (Select 840) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137623	NM_001227.5(CASP7):c.816C>G (p.His272Gln)	CASP7 (H247Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137622	NM_001227.5(CASP7):c.256G>T (p.Val86Phe)	CASP7, LOC126861046 (V119F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640855	NM_001227.5(CASP7):c.867C>T (p.Pro289=)	CASP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640854	NM_001227.5(CASP7):c.541T>C (p.Phe181Leu)	CASP7 (F156L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2640853	NM_001227.5(CASP7):c.111-11664_111-11662del	CASP7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2640852	NM_001227.5(CASP7):c.1-5463C>T	CASP7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2617593	NM_001227.5(CASP7):c.741C>T (p.Ser247=)	CASP7 (P236L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2591057	NM_001227.5(CASP7):c.83G>A (p.Arg28Gln)	CASP7 (G103S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2562053	NM_001227.5(CASP7):c.289C>T (p.Leu97Phe)	CASP7, LOC126861046 (L105F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526028	NM_001227.5(CASP7):c.865C>T (p.Pro289Ser)	CASP7 (P322S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474650	NM_001227.5(CASP7):c.25G>A (p.Glu9Lys)	CASP7 (E42K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466479	NM_001227.5(CASP7):c.568G>A (p.Glu190Lys)	CASP7 (E165K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457025	NM_001227.5(CASP7):c.101C>A (p.Ser34Tyr)	CASP7 (P109T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454256	NM_001227.5(CASP7):c.256G>A (p.Val86Ile)	CASP7, LOC126861046 (V171I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357284	NM_001227.5(CASP7):c.512G>C (p.Cys171Ser)	CASP7 (C171S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347831	NM_001227.5(CASP7):c.864C>G (p.Ile288Met)	CASP7 (I263M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335399	NM_001227.5(CASP7):c.596C>T (p.Ser199Leu)	CASP7 (S199L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272558	NM_001227.5(CASP7):c.44A>T (p.Asp15Val)	CASP7 (D48V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244621	NM_001227.5(CASP7):c.859C>G (p.Gln287Glu)	CASP7 (Q262E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244620	NM_001227.5(CASP7):c.103C>G (p.Leu35Val)	CASP7 (L68V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237087	NM_001227.5(CASP7):c.551A>G (p.Gln184Arg)	CASP7 (Q159R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 1246573	NM_001227.5(CASP7):c.765C>G (p.Asp255Glu)	CASP7 (D230E +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 760916	NM_001227.5(CASP7):c.501G>A (p.Arg167=)	CASP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687157	GRCh37/hg19 10q25.3(chr10:115343286-115502332)x3	CASP7, HABP2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395236	GRCh37/hg19 10q25.3(chr10:115274398-115542099)x1	CASP7, HABP2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54