"GeneDx"[submitter] AND "GPT2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 280442	NM_133443.4(GPT2):c.181G>T (p.Glu61Ter)	GPT2 (E61*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1328699	NM_133443.4(GPT2):c.225CGAGCT[3] (p.76EL[3])	GPT2	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1339470	NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)	GPT2 (G96R)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 1303628	NM_133443.4(GPT2):c.487G>A (p.Val163Met)	GPT2 (V163M +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency +1 more	GUncertain significance
Select item 3373367	NM_133443.4(GPT2):c.500T>A (p.Ile167Asn)	GPT2 (I167N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662738	NM_133443.4(GPT2):c.630_631delinsTT (p.Met210_Ile211delinsIlePhe)	GPT2	Indel (missense variant)	not provided	GUncertain significance
Select item 983542	NM_133443.4(GPT2):c.775T>C (p.Cys259Arg)	GPT2 (C259R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695575	NM_133443.4(GPT2):c.1036G>A (p.Glu346Lys)	GPT2 (E246K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997801	NM_133443.4(GPT2):c.1037+5G>A	GPT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1254563	NM_133443.4(GPT2):c.1133dup (p.Val379fs)	GPT2 (V279fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 254655	NM_133443.4(GPT2):c.1210C>T (p.Arg404Ter)	GPT2 (R404* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic