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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2620131	NM_001957.4(EDNRA):c.249C>A (p.Asn83Lys)	EDNRA (N83K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335919	NM_001957.4(EDNRA):c.286G>A (p.Val96Met)	EDNRA (V96M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461249	NM_001957.4(EDNRA):c.463G>A (p.Val155Ile)	EDNRA (V155I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 520836	NM_001957.4(EDNRA):c.503C>T (p.Ser168Leu)	EDNRA (S168L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3087204	NM_001957.4(EDNRA):c.665T>C (p.Ile222Thr)	EDNRA (I222T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593527	NM_001957.4(EDNRA):c.742A>G (p.Met248Val)	EDNRA (M248V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304624	NM_001957.4(EDNRA):c.756A>C (p.Gln252His)	EDNRA (Q143H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204782	NM_001957.4(EDNRA):c.815C>T (p.Ala272Val)	EDNRA (A163V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481291	NM_001957.4(EDNRA):c.901C>T (p.Arg301Cys)	EDNRA (R192C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597473	NM_001957.4(EDNRA):c.1007T>C (p.Met336Thr)	EDNRA (M336T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298041	NM_001957.4(EDNRA):c.1030C>G (p.Leu344Val)	EDNRA (L235V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance