ClinVar for MedGen (Select 1841082) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068277	NM_005148.4(UNC119):c.721T>C (p.Ter241Arg)	UNC119	Single nucleotide variant (stop lost +1 more)	Cone-rod dystrophy 24	GUncertain significance
Select item 1677310	NM_005148.4(UNC119):c.601G>T (p.Glu201Ter)	UNC119 (E106* +1 more)	Single nucleotide variant (nonsense)	Macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 5882	NM_005148.4(UNC119):c.169A>T (p.Lys57Ter)	LOC130060555, UNC119 (K57*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance

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