"Ambry Genetics"[submitter] AND "GPT2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399132	NM_133443.4(GPT2):c.32G>T (p.Gly11Val)	GPT2 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102095	NM_133443.4(GPT2):c.65G>A (p.Arg22His)	GPT2 (R22H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 522105	NM_133443.4(GPT2):c.70C>T (p.Gln24Ter)	GPT2 (Q24*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3102096	NM_133443.4(GPT2):c.89A>C (p.Glu30Ala)	GPT2 (E30A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3282554	NM_133443.4(GPT2):c.90G>C (p.Glu30Asp)	GPT2 (E30D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364031	NM_133443.4(GPT2):c.94T>G (p.Ser32Ala)	GPT2 (S32A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257374	NM_133443.4(GPT2):c.232G>C (p.Glu78Gln)	GPT2 (E78Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805209	NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)	GPT2 (R10W +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency +1 more	GUncertain significance
Select item 1031604	NM_133443.4(GPT2):c.371G>C (p.Ser124Thr)	GPT2 (S24T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2259062	NM_133443.4(GPT2):c.409C>T (p.Arg137Trp)	GPT2 (R137W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 187856	NM_133443.4(GPT2):c.459C>G (p.Ser153Arg)	GPT2 (S153R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2455852	NM_133443.4(GPT2):c.545A>T (p.Tyr182Phe)	GPT2 (Y82F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102094	NM_133443.4(GPT2):c.595G>A (p.Val199Ile)	GPT2 (V199I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509804	NM_133443.4(GPT2):c.745C>T (p.Arg249Trp)	GPT2 (R149W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675622	NM_133443.4(GPT2):c.975C>T (p.Pro325=)	GPT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2607025	NM_133443.4(GPT2):c.990C>G (p.Asn330Lys)	GPT2 (N330K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810308	NM_133443.4(GPT2):c.1037+5G>C	GPT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3102090	NM_133443.4(GPT2):c.1065G>C (p.Glu355Asp)	GPT2 (E355D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916089	NM_133443.4(GPT2):c.1175C>T (p.Pro392Leu)	GPT2 (P292L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3282555	NM_133443.4(GPT2):c.1184G>A (p.Gly395Glu)	GPT2 (G295E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275129	NM_133443.4(GPT2):c.1222T>C (p.Ser408Pro)	GPT2 (S308P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374032	NM_133443.4(GPT2):c.1223C>T (p.Ser408Leu)	GPT2 (S308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102091	NM_133443.4(GPT2):c.1307A>C (p.Gln436Pro)	GPT2 (Q336P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102092	NM_133443.4(GPT2):c.1343C>T (p.Pro448Leu)	GPT2 (P348L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221847	NM_133443.4(GPT2):c.1369-3T>C	GPT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2589038	NM_133443.4(GPT2):c.1517C>T (p.Thr506Met)	GPT2 (T506M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26