12711[HGNC] - ClinVar

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

Search results

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

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: 32