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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228662	NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)	EDNRB, EDNRB-AS1 (G429R +1 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung Disease, Recessive +7 more	GUncertain significance
Select item 505624	NM_001122659.3(EDNRB):c.1278T>C (p.Asn426=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 2298395	NM_001122659.3(EDNRB):c.1172A>G (p.Lys391Arg)	EDNRB, EDNRB-AS1 (K481R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275974	NM_001122659.3(EDNRB):c.1072T>C (p.Cys358Arg)	EDNRB, EDNRB-AS1 (C358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087208	NM_001122659.3(EDNRB):c.820G>T (p.Asp274Tyr)	EDNRB, EDNRB-AS1 (D274Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087207	NM_001122659.3(EDNRB):c.758G>C (p.Arg253Pro)	EDNRB, EDNRB-AS1 (R253P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087206	NM_001122659.3(EDNRB):c.700G>A (p.Val234Ile)	EDNRB, EDNRB-AS1 (V234I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615851	NM_001122659.3(EDNRB):c.580G>A (p.Ala194Thr)	EDNRB, EDNRB-AS1 (A284T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054497	NM_001122659.3(EDNRB):c.540A>G (p.Ile180Met)	EDNRB, EDNRB-AS1 (I180M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1378245	NM_001122659.3(EDNRB):c.526C>G (p.Leu176Val)	EDNRB, EDNRB-AS1 (L176V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1496310	NM_001122659.3(EDNRB):c.314C>T (p.Thr105Met)	EDNRB (T105M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2118783	NM_001122659.3(EDNRB):c.247C>T (p.Arg83Cys)	EDNRB (R173C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3087205	NM_001122659.3(EDNRB):c.203C>G (p.Pro68Arg)	EDNRB (P158R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176145	NM_001122659.3(EDNRB):c.102C>G (p.Asp34Glu)	EDNRB (D34E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3087209	NM_001122659.3(EDNRB):c.87_88dup (p.Gly30fs)	EDNRB (G30fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2478860	NM_001122659.3(EDNRB):c.46G>T (p.Val16Phe)	EDNRB (V106F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470796	NM_001122659.3(EDNRB):c.8C>T (p.Pro3Leu)	EDNRB (P93L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance