"Ambry Genetics"[submitter] AND "P2RY13"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2618519	NM_176894.3(P2RY13):c.719G>C (p.Arg240Thr)	MED12L, P2RY13 (R240T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533867	NM_176894.3(P2RY13):c.494T>C (p.Ile165Thr)	MED12L, P2RY13 (I165T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2214793	NM_176894.3(P2RY13):c.359C>T (p.Ser120Leu)	MED12L, P2RY13 (S120L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280267	NM_176894.3(P2RY13):c.301C>T (p.Leu101Phe)	P2RY13, MED12L (L101F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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