C1860339[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526071	NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)	MITF (Y112* +5 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 1333434	NM_001354604.2(MITF):c.899_900del (p.Glu300fs)	MITF (E193fs +2 more)	Microsatellite (frameshift variant)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 1526191	NM_001354604.2(MITF):c.955+1G>T	MITF	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 14276	NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	MITF (R214* +9 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 2A +5 more	GPathogenic
Select item 14272	NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)	MITF (R217del +9 more)	Microsatellite (inframe_deletion)	not provided +3 more	GPathogenic
Select item 1526235	NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer)	MITF	Duplication (nonsense)	Waardenburg syndrome type 2A	GLikely pathogenic

ClinVar