1508[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 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 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 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 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
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 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	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 2640852	NM_001227.5(CASP7):c.1-5463C>T	CASP7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 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 3263439	NM_001227.5(CASP7):c.109A>G (p.Ser37Gly)	CASP7 (S70G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640853	NM_001227.5(CASP7):c.111-11664_111-11662del	CASP7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3263438	NM_001227.5(CASP7):c.185T>C (p.Met62Thr)	CASP7, LOC126861046 (M37T +4 more)	Single nucleotide variant (missense variant)	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 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 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 3263440	NM_001227.5(CASP7):c.363T>G (p.Asp121Glu)	CASP7, LOC126861046 (D121E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 1246573	NM_001227.5(CASP7):c.765C>G (p.Asp255Glu)	CASP7 (D230E +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 2640855	NM_001227.5(CASP7):c.867C>T (p.Pro289=)	CASP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 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)	INA, INPP5A +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	A1CF, ABCC2 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57