"Revvity Omics, Revvity"[submitter] AND "MED23"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2397	NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)	ARG1, MED23 (R21*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency +2 more	GPathogenic
Select item 632472	NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	ARG1, MED23 (D128G +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 1987241	NM_000045.4(ARG1):c.589T>C (p.Tyr197His)	ARG1, MED23 (Y112H +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 958983	NM_000045.4(ARG1):c.746T>C (p.Val249Ala)	ARG1, MED23 (V249A +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 419034	NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)	ARG1, MED23 (A298P +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2433724	NM_004830.4(MED23):c.3724G>A (p.Glu1242Lys)	MED23 (E1195K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar