ClinVar for MedGen (Select 400626) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2414090	NM_016065.4(MRPS16):c.238G>A (p.Gly80Arg)	DNAJC9-AS1, MRPS16 (G80R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 2 +2 more	GUncertain significance
Select item 1835	NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter)	DNAJC9-AS1, MRPS16 (R111*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance