"EDN3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504086	NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[1] (p.48ETVAGPGE[1])	EDN3	Microsatellite (inframe_deletion)	EDN3-related disorder +1 more	GLikely 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 3029995	NM_207034.3(EDN3):c.309G>A (p.Lys103=)	EDN3	Single nucleotide variant (synonymous variant)	EDN3-related disorder	GLikely benign
Select item 3051475	NM_207034.3(EDN3):c.433C>T (p.Leu145Phe)	EDN3 (L145F)	Single nucleotide variant (missense variant)	EDN3-related disorder	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 1335463	NM_207034.3(EDN3):c.589-10C>T	EDN3	Single nucleotide variant (intron variant)	EDN3-related disorder +1 more	GLikely benign
Select item 3032423	NM_207034.3(EDN3):c.675A>G (p.Pro225=)	EDN3	Single nucleotide variant (3 prime UTR variant +1 more)	EDN3-related disorder	GLikely benign

ClinVar