"Ambry Genetics"[submitter] AND "TRNAU1AP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2510343	NM_017846.5(TRNAU1AP):c.122C>A (p.Thr41Asn)	TRNAU1AP (T41N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237529	NM_017846.5(TRNAU1AP):c.248A>T (p.Tyr83Phe)	TRNAU1AP (Y83F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595965	NM_017846.5(TRNAU1AP):c.514G>A (p.Val172Met)	TRNAU1AP (V172M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620279	NM_017846.5(TRNAU1AP):c.754G>A (p.Glu252Lys)	TRNAU1AP (E252K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493473	NM_017846.5(TRNAU1AP):c.762C>A (p.Asn254Lys)	TRNAU1AP (N254K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360743	NM_017846.5(TRNAU1AP):c.772A>G (p.Met258Val)	TRNAU1AP (M258V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601982	NM_017846.5(TRNAU1AP):c.799G>A (p.Ala267Thr)	TRNAU1AP (A267T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar