9559[Gene ID] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 3188868	NM_004896.5(VPS26A):c.49G>A (p.Val17Ile)	VPS26A (V17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188863	NM_004896.5(VPS26A):c.118T>C (p.Tyr40His)	VPS26A (Y40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188864	NM_004896.5(VPS26A):c.142G>A (p.Val48Ile)	VPS26A (V48I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188865	NM_004896.5(VPS26A):c.225A>C (p.Gln75His)	VPS26A (Q58H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321631	NM_004896.5(VPS26A):c.263T>A (p.Phe88Tyr)	VPS26A (F88Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188866	NM_004896.5(VPS26A):c.335T>C (p.Met112Thr)	VPS26A (M105T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343502	NM_004896.5(VPS26A):c.364A>T (p.Ile122Phe)	VPS26A (I105F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513401	NM_004896.5(VPS26A):c.379C>T (p.Arg127Cys)	VPS26A (R16C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284438	NM_004896.5(VPS26A):c.398A>C (p.Lys133Thr)	VPS26A (K116T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302213	NM_004896.5(VPS26A):c.407T>C (p.Ile136Thr)	VPS26A (I119T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188867	NM_004896.5(VPS26A):c.437A>C (p.Glu146Ala)	VPS26A (E139A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542744	NM_004896.5(VPS26A):c.559T>A (p.Leu187Ile)	VPS26A (L170I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554466	NM_004896.5(VPS26A):c.619A>G (p.Met207Val)	VPS26A (M207V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332223	NM_004896.5(VPS26A):c.688A>G (p.Ile230Val)	VPS26A (I213V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454560	NM_004896.5(VPS26A):c.691G>A (p.Ala231Thr)	VPS26A (A214T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332224	NM_004896.5(VPS26A):c.785G>A (p.Arg262Lys)	VPS26A (R245K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332222	NM_004896.5(VPS26A):c.893C>T (p.Ala298Val)	VPS26A (A298V +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	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 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 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 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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 32