"Ambry Genetics"[submitter] AND "TPT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181695	NM_003295.4(TPT1):c.355G>T (p.Ala119Ser)	TPT1 (A119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204511	NM_003295.4(TPT1):c.349G>A (p.Gly117Arg)	TPT1 (G83R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317755	NM_003295.4(TPT1):c.122G>T (p.Gly41Val)	TPT1 (G7V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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