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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174304	NM_000353.3(TAT):c.1279A>C (p.Met427Leu)	TAT, TAT-AS1 (M427L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272870	NM_000353.3(TAT):c.1188A>C (p.Leu396Phe)	TAT, TAT-AS1 (L396F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547395	NM_000353.3(TAT):c.1087C>T (p.Leu363Phe)	TAT, TAT-AS1 (L363F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142279	NM_000353.3(TAT):c.997C>T (p.Arg333Cys)	TAT, TAT-AS1 (R333C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151808	NM_000353.3(TAT):c.944G>A (p.Arg315His)	TAT, TAT-AS1 (R315H)	Single nucleotide variant (missense variant)	Tyrosinemia type II +1 more	GUncertain significance
Select item 3174305	NM_000353.3(TAT):c.869G>C (p.Gly290Ala)	TAT, TAT-AS1 (G290A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174306	NM_000353.3(TAT):c.91C>G (p.Pro31Ala)	TAT (P31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar