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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2297808	NM_002703.5(PPAT):c.1328C>T (p.Pro443Leu)	PPAT (P443L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217047	NM_002703.5(PPAT):c.1327C>T (p.Pro443Ser)	PPAT (P443S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309098	NM_002703.5(PPAT):c.973C>A (p.Pro325Thr)	PPAT (P325T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393357	NM_002703.5(PPAT):c.879G>A (p.Met293Ile)	PPAT (M293I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217049	NM_002703.5(PPAT):c.806T>C (p.Ile269Thr)	PPAT (I269T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492515	NM_002703.5(PPAT):c.539C>T (p.Ala180Val)	PPAT (A180V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528594	NM_002703.5(PPAT):c.497C>T (p.Thr166Ile)	PPAT (T166I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217048	NM_002703.5(PPAT):c.233A>G (p.Asn78Ser)	PPAT (N78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344023	NM_002703.5(PPAT):c.188C>T (p.Ser63Leu)	PPAT (S63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance