ClinVar for MedGen (Select 412961) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547292	NM_207034.3(EDN3):c.334C>A (p.His112Asn)	EDN3 (H112N)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GLikely pathogenic
Select item 545507	NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)	EDN3 (C111F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GUncertain significance
Select item 339126	NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)	EDN3 (R230C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 4 +2 more	GUncertain significance
Select item 339124	NM_207034.3(EDN3):c.426G>A (p.Ala142=)	EDN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 339123	NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	EDN3 (T98K)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B +2 more	GConflicting classifications of pathogenicity
Select item 339121	NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)	EDN3 (S15A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227351	NM_207034.3(EDN3):c.565dup (p.Thr189fs)	EDN3 (T189fs)	Duplication	EDN3-related disorder +4 more	GBenign/Likely benign
Select item 16651	NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)	EDN3 (R93G)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 16650	NM_207034.3(EDN3):c.335A>G (p.His112Arg)	EDN3 (H112R)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 16649	NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)	EDN3 (C169*)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4B	GPathogenic
Select item 16647	NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)	EDN3 (A224T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 16644	NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)	EDN3 (C159F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 16643	NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs)	EDN3 (A88fs)	Indel (frameshift variant)	Waardenburg syndrome type 4B	GPathogenic