ClinVar for Gene (Select 10724) - ClinVar

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

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204087	NM_012215.5(OGA):c.9G>C (p.Gln3His)	OGA (Q3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204086	NM_012215.5(OGA):c.826G>A (p.Val276Ile)	OGA (V276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204085	NM_012215.5(OGA):c.80C>T (p.Ala27Val)	OGA (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204084	NM_012215.5(OGA):c.74C>T (p.Ala25Val)	OGA (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204083	NM_012215.5(OGA):c.489G>C (p.Gln163His)	OGA (Q163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204082	NM_012215.5(OGA):c.442C>T (p.Pro148Ser)	OGA (P148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204081	NM_012215.5(OGA):c.2620C>T (p.Arg874Trp)	OGA (R874W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204080	NM_012215.5(OGA):c.2149A>C (p.Ile717Leu)	OGA (I717L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204079	NM_012215.5(OGA):c.2140G>A (p.Val714Ile)	OGA (V661I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204078	NM_012215.5(OGA):c.2138A>G (p.Lys713Arg)	OGA (K660R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204077	NM_012215.5(OGA):c.1677G>T (p.Gln559His)	OGA (Q506H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204076	NM_012215.5(OGA):c.1663C>G (p.Leu555Val)	OGA (L555V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204075	NM_012215.5(OGA):c.1427A>T (p.Asp476Val)	OGA (D423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204074	NM_012215.5(OGA):c.1351C>G (p.Leu451Val)	OGA (L398V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204073	NM_012215.5(OGA):c.1351C>A (p.Leu451Met)	OGA (L451M +1 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 3063157	GRCh37/hg19 10q24.32(chr10:103197122-103601973)x3	BTRC, DPCD +6 more	Copy number gain	not specified	GUncertain significance
Select item 2623716	NM_012215.5(OGA):c.176G>A (p.Arg59Gln)	OGA (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621130	NM_012215.5(OGA):c.1516A>C (p.Ile506Leu)	OGA (I453L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617618	NM_012215.5(OGA):c.152C>T (p.Ala51Val)	OGA (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595478	NM_012215.5(OGA):c.140G>A (p.Gly47Glu)	OGA (G47E)	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 2519691	NM_012215.5(OGA):c.136G>C (p.Gly46Arg)	OGA (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511019	NM_012215.5(OGA):c.2513A>G (p.Asn838Ser)	OGA (N785S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509150	NM_012215.5(OGA):c.1282G>A (p.Val428Ile)	OGA (V428I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478445	NM_012215.5(OGA):c.1576C>G (p.Pro526Ala)	OGA (P473A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471504	NM_012215.5(OGA):c.1345A>C (p.Thr449Pro)	OGA (T449P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 773006	NM_012215.5(OGA):c.1037-3C>T	OGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750052	NM_012215.5(OGA):c.653-8A>G	OGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725503	NM_012215.5(OGA):c.200-7A>C	OGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	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 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 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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59708	GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3	BTRC, DPCD +42 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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 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

Links from Gene

Items: 45