C1860339[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976411	NM_001354604.2(MITF):c.808C>T (p.Leu270=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A	GPathogenic
Select item 977608	NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)	MITF (N148S +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +3 more	GConflicting classifications of pathogenicity