"Baylor Genetics"[submitter] AND "RMND1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 7

	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)	Combined oxidative phosphorylation defect type 11 +1 more	GConflicting classifications of pathogenicity
Select item 1032011	NM_017909.4(RMND1):c.1318-11T>C	RMND1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
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 666265	NM_017909.4(RMND1):c.1049T>C (p.Met350Thr)	RMND1 (M350T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance
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 225255	NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	RMND1 (N238S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +3 more	GConflicting classifications of pathogenicity
Select item 1029661	NM_017909.4(RMND1):c.530C>T (p.Ala177Val)	RMND1 (A177V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11	GUncertain significance