ClinVar for Gene (Select 23673) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323456	NM_177424.3(STX12):c.566G>A (p.Arg189Gln)	STX12 (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323455	NM_177424.3(STX12):c.757A>G (p.Ile253Val)	STX12 (I253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171730	NM_177424.3(STX12):c.739T>A (p.Ser247Thr)	STX12 (S247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171729	NM_177424.3(STX12):c.688G>A (p.Val230Ile)	STX12 (V230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171728	NM_177424.3(STX12):c.653G>A (p.Ser218Asn)	STX12 (S218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171727	NM_177424.3(STX12):c.492G>A (p.Met164Ile)	STX12 (M164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171726	NM_177424.3(STX12):c.29G>A (p.Arg10Gln)	STX12 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171725	NM_177424.3(STX12):c.241C>G (p.Leu81Val)	STX12 (L81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171723	NM_177424.3(STX12):c.189G>T (p.Leu63=)	STX12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3171722	NM_177424.3(STX12):c.11G>A (p.Gly4Asp)	STX12 (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2541065	NM_177424.3(STX12):c.818A>C (p.Tyr273Ser)	STX12 (Y273S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454723	NM_177424.3(STX12):c.247G>C (p.Glu83Gln)	STX12 (E83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405775	NM_177424.3(STX12):c.43T>G (p.Ser15Ala)	STX12 (S15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367753	NM_177424.3(STX12):c.742C>T (p.Arg248Cys)	STX12 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349608	NM_177424.3(STX12):c.716G>A (p.Arg239Gln)	STX12 (R239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332362	NM_177424.3(STX12):c.103C>T (p.Arg35Trp)	STX12 (R35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299517	NM_177424.3(STX12):c.695G>A (p.Arg232Lys)	STX12 (R232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253950	NM_177424.3(STX12):c.480G>C (p.Glu160Asp)	STX12 (E160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
Select item 980386	GRCh37/hg19 1p35.3(chr1:28123257-28189681)x1	STX12, PPP1R8	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59930	GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1	AHDC1, FAM76A +32 more	Copy number loss	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28