ClinVar for MedGen (Select 1809981) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238774	NM_178314.5(RILPL1):c.331G>C (p.Val111Leu)	RILPL1 (V111L)	Single nucleotide variant (missense variant +1 more)	Oculopharyngodistal myopathy 4	GUncertain significance
Select item 1344570	NC_000012.12:g.123533750CGG[40_1000]	LOC130009110, RILPL1	Microsatellite	Oculopharyngodistal myopathy 4	GPathogenic