ClinVar for Gene (Select 54707) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282178	NM_018066.4(GPN2):c.85A>G (p.Met29Val)	GPN2 (M29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282177	NM_018066.4(GPN2):c.835A>G (p.Met279Val)	GPN2 (M279V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101349	NM_018066.4(GPN2):c.784T>C (p.Cys262Arg)	GPN2 (C262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101348	NM_018066.4(GPN2):c.642C>G (p.Phe214Leu)	GPN2 (F214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101347	NM_018066.4(GPN2):c.245T>C (p.Leu82Pro)	GPN2 (L82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101346	NM_018066.4(GPN2):c.23C>T (p.Thr8Met)	GPN2 (T8M)	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 2600265	NM_018066.4(GPN2):c.646C>T (p.Arg216Cys)	GPN2 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592473	NM_018066.4(GPN2):c.13G>A (p.Ala5Thr)	GPN2 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551843	NM_018066.4(GPN2):c.290C>G (p.Ala97Gly)	GPN2 (A97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551842	NM_018066.4(GPN2):c.289G>T (p.Ala97Ser)	GPN2 (A97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541312	NM_018066.4(GPN2):c.255G>C (p.Met85Ile)	GPN2 (M85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525721	NM_018066.4(GPN2):c.490G>A (p.Ala164Thr)	GPN2 (A164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482992	NM_018066.4(GPN2):c.539T>C (p.Met180Thr)	GPN2 (M180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464282	NM_018066.4(GPN2):c.695A>G (p.Tyr232Cys)	GPN2 (Y232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461308	NM_018066.4(GPN2):c.238G>A (p.Gly80Ser)	GPN2 (G80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455284	NM_018066.4(GPN2):c.310G>A (p.Gly104Ser)	GPN2 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2409495	NM_018066.4(GPN2):c.550G>A (p.Glu184Lys)	GPN2 (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405854	NM_018066.4(GPN2):c.832G>A (p.Ala278Thr)	GPN2 (A278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365707	NM_018066.4(GPN2):c.158C>T (p.Pro53Leu)	GPN2 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347970	NM_018066.4(GPN2):c.721A>G (p.Asn241Asp)	GPN2 (N241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341861	NM_018066.4(GPN2):c.394G>A (p.Ala132Thr)	GPN2 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338535	NM_018066.4(GPN2):c.653A>G (p.Tyr218Cys)	GPN2 (Y218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316892	NM_018066.4(GPN2):c.665A>G (p.Asn222Ser)	GPN2 (N222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297384	NM_018066.4(GPN2):c.439C>T (p.His147Tyr)	GPN2 (H147Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257945	NM_018066.4(GPN2):c.137A>G (p.Asp46Gly)	GPN2 (D46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241265	NM_018066.4(GPN2):c.824T>C (p.Met275Thr)	GPN2 (M275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214952	NM_018066.4(GPN2):c.286C>T (p.Arg96Cys)	GPN2 (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527725	GRCh37/hg19 1p36.11(chr1:27119557-27547784)	GPATCH3, GPN2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1412090	NC_000001.10:g.(?_27117307)_(27480825_?)dup	ZDHHC18, GPATCH3 +9 more	Duplication	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 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 37