"Ambry Genetics"[submitter] AND "PET117"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2485870	NM_001164811.2(PET117):c.31C>T (p.Leu11Phe)	KAT14, PET117 (L11F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621468	NM_001164811.2(PET117):c.104G>C (p.Arg35Pro)	KAT14, PET117 (R35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349715	NM_001164811.2(PET117):c.139C>T (p.Arg47Trp)	KAT14, PET117 (R47W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364237	NM_001164811.2(PET117):c.157C>T (p.Arg53Cys)	KAT14, PET117 (R53C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481442	NM_001164811.2(PET117):c.208G>A (p.Glu70Lys)	KAT14, PET117 (E70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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