ClinVar for MedGen (Select 411737) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062182	NM_020533.3(MCOLN1):c.576C>A (p.Cys192Ter)	MCOLN1 (C192*)	Single nucleotide variant (nonsense)	Lisch epithelial corneal dystrophy	GPathogenic
Select item 208030	NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)	MCOLN1 (R172*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic/Likely pathogenic