"Ambry Genetics"[submitter] AND "RMND1"[gene] - ClinVar

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Items: 27

	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 522120	NM_017909.4(RMND1):c.1348T>C (p.Ter450Arg)	RMND1	Single nucleotide variant (stop lost)	Inborn genetic diseases	GLikely pathogenic
Select item 3154815	NM_017909.4(RMND1):c.1337G>A (p.Arg446Gln)	RMND1 (R446Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242845	NM_017909.4(RMND1):c.1317+3A>C	RMND1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1917478	NM_017909.4(RMND1):c.1190G>A (p.Arg397Gln)	RMND1 (R227Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605566	NM_017909.4(RMND1):c.1120G>C (p.Asp374His)	RMND1 (D204H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452656	NM_017909.4(RMND1):c.1003-2_1003-1insATG	RMND1	Insertion (splice acceptor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1310501	NM_017909.4(RMND1):c.1002+3A>C	RMND1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2618481	NM_017909.4(RMND1):c.895A>G (p.Ile299Val)	RMND1 (I129V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254910	NM_017909.4(RMND1):c.852G>C (p.Arg284Ser)	RMND1 (R114S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3154820	NM_017909.4(RMND1):c.850A>G (p.Arg284Gly)	RMND1 (R114G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1446903	NM_017909.4(RMND1):c.795C>G (p.His265Gln)	RMND1 (H265Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2229606	NM_017909.4(RMND1):c.689+5G>A	RMND1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1389510	NM_017909.4(RMND1):c.526T>A (p.Phe176Ile)	RMND1 (F6I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2616319	NM_017909.4(RMND1):c.508C>G (p.Leu170Val)	RMND1 (L170V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3154818	NM_017909.4(RMND1):c.439C>G (p.Pro147Ala)	RMND1 (P147A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272134	NM_017909.4(RMND1):c.421T>C (p.Phe141Leu)	RMND1 (F141L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3154817	NM_017909.4(RMND1):c.406G>A (p.Val136Ile)	RMND1 (V136I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314626	NM_017909.4(RMND1):c.375G>C (p.Arg125Ser)	RMND1 (R125S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1083505	NM_017909.4(RMND1):c.320T>A (p.Val107Glu)	RMND1 (V107E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2491494	NM_017909.4(RMND1):c.292A>C (p.Met98Leu)	RMND1 (M98L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1366720	NM_017909.4(RMND1):c.260G>A (p.Arg87His)	RMND1 (R87H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3154816	NM_017909.4(RMND1):c.259C>T (p.Arg87Cys)	RMND1 (R87C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340422	NM_017909.4(RMND1):c.180T>A (p.Ser60Arg)	RMND1 (S60R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314625	NM_017909.4(RMND1):c.142C>A (p.Gln48Lys)	RMND1 (Q48K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304566	NM_017909.4(RMND1):c.17T>A (p.Leu6His)	RMND1 (L6H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 27