"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RMND1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440932	NM_017909.4(RMND1):c.1085G>A (p.Arg362His)	RMND1 (R362H +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GConflicting classifications of pathogenicity
Select item 1032010	NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys)	RMND1 (E347K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3379719	NM_017909.4(RMND1):c.729+5G>C	RMND1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 377025	NM_017909.4(RMND1):c.668C>T (p.Pro223Leu)	RMND1 (P223L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 138919	NM_017909.4(RMND1):c.447A>G (p.Lys149=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 138918	NM_017909.4(RMND1):c.395C>T (p.Thr132Met)	RMND1 (T132M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1395019	NM_017909.4(RMND1):c.188A>G (p.Asn63Ser)	RMND1 (N63S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 138917	NM_017909.4(RMND1):c.125G>T (p.Ser42Ile)	RMND1 (S42I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign

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