Related gene-specific medical variations for Gene (Select 107882129) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279168	NM_000115.5(EDNRB):c.-51-272G>C	EDNRB, LOC107882129	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277857	NM_000115.5(EDNRB):c.-51-460T>G	EDNRB, LOC107882129	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223528	NM_000115.5(EDNRB):c.-51-1102del	EDNRB, LOC107882129	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1199653	NM_000115.5(EDNRB):c.-51-455A>G	EDNRB, LOC107882129	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1064933	NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)	EDNRB, LOC107882129 (C6*)	Single nucleotide variant (nonsense +1 more)	EDNRB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 807030	NM_001201397.2(EDNRB):c.159delC (p.Arg54Alafs)	EDNRB, LOC107882129 (R54fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 505270	NM_001201397.2(EDNRB):c.11G>C (p.Ser4Thr)	LOC107882129, EDNRB (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505204	NM_001201397.2(EDNRB):c.164T>G (p.Leu55Arg)	LOC107882129, EDNRB (L55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 228663	NM_001201397.2(EDNRB):c.7A>T (p.Lys3Ter)	EDNRB, LOC107882129 (K3*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 226624	NM_001201397.2(EDNRB):c.39G>T (p.Pro13=)	EDNRB, LOC107882129	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 16641	NM_001201397.2(EDNRB):c.43A>T (p.Lys15Ter)	EDNRB, LOC107882129 (K15*)	Single nucleotide variant (nonsense +1 more)	Hirschsprung disease, susceptibility to, 2	Grisk factor