"GenomeConnect, ClinGen"[submitter] AND "MITF"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1217664	NM_001354604.2(MITF):c.622G>A (p.Glu208Lys)	MITF (E101K +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 29792	NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	MITF (E318K +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +6 more	GPathogenic/Likely pathogenic; risk factor