"OMIM"[submitter] AND "RMND1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143051	NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	RMND1	Single nucleotide variant (stop lost)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 39765	NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)	RMND1 (R417Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 374907	NM_017909.2(RMND1):c.1003delG	RMND1	Deletion	Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 225255	NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	RMND1 (N238S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial oxidative phosphorylation disorder +3 more	GConflicting classifications of pathogenicity
Select item 242631	NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)	RMND1 (D205Y +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GPathogenic
Select item 39764	NM_017909.4(RMND1):c.504+1G>A	RMND1	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 11 +1 more	GPathogenic/Likely pathogenic

ClinVar