"Ambry Genetics"[submitter] AND "P2RY14"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2394286	NM_014879.4(P2RY14):c.980G>A (p.Arg327Lys)	P2RY14, MED12L (R327K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323837	NM_014879.4(P2RY14):c.961G>C (p.Asp321His)	MED12L, P2RY14 (D321H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545703	NM_014879.4(P2RY14):c.838A>T (p.Thr280Ser)	MED12L, P2RY14 (T280S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256283	NM_014879.4(P2RY14):c.577G>A (p.Ala193Thr)	P2RY14, MED12L (A193T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206809	NM_014879.4(P2RY14):c.431T>C (p.Ile144Thr)	P2RY14, MED12L (I144T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320875	NM_014879.4(P2RY14):c.401C>T (p.Ser134Leu)	MED12L, P2RY14 (S134L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619782	NM_014879.4(P2RY14):c.379C>T (p.Leu127Phe)	MED12L, P2RY14 (L127F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221020	NM_014879.4(P2RY14):c.250C>T (p.Leu84Phe)	P2RY14, MED12L (L84F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205695	NM_014879.4(P2RY14):c.19A>C (p.Thr7Pro)	MED12L, P2RY14 (T7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance