ClinVar for MedGen (Select 398443) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545639	NM_001354604.2(MITF):c.355-1062G>C	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 381604	NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GPathogenic/Likely pathogenic