"Ambry Genetics"[submitter] AND "LOC121627945"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2520901	NM_003216.4(TEF):c.37G>A (p.Asp13Asn)	LOC121627945, TEF (D13N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558714	NM_003216.4(TEF):c.64C>A (p.Pro22Thr)	LOC121627945, TEF (P22T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535453	NM_003216.4(TEF):c.77C>T (p.Ala26Val)	LOC121627945, TEF (A26V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395880	NM_003216.4(TEF):c.79G>A (p.Gly27Arg)	LOC121627945, TEF (G27R)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530022	NM_003216.4(TEF):c.85A>G (p.Arg29Gly)	LOC121627945, TEF (R29G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401596	NM_003216.4(TEF):c.95C>T (p.Ser32Leu)	LOC121627945, TEF (S32L)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461780	NM_003216.4(TEF):c.151C>G (p.Arg51Gly)	LOC121627945, TEF (R51G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar