ClinVar for MedGen (Select 1682397) - ClinVar

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Items: 47

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25850621.	NM_017909.4(RMND1):c.703G>A (p.Val235Met) GRCh37: Chr6:151751299 GRCh38: Chr6:151430164	RMND1	V235M, V65M	Combined oxidative phosphorylation defect type 11	Uncertain significance	criteria provided, single submitter
Select item 24981522.	NM_017909.4(RMND1):c.108del (p.Phe36fs) GRCh37: Chr6:151766839 GRCh38: Chr6:151445704	RMND1	F36fs	Combined oxidative phosphorylation defect type 11	Pathogenic (Mar 23, 2023)	criteria provided, single submitter
Select item 24354403.	NM_017909.4(RMND1):c.583G>A (p.Gly195Arg) GRCh37: Chr6:151757611 GRCh38: Chr6:151436476	RMND1	G195R, G25R	Combined oxidative phosphorylation defect type 11	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 16968974.	NM_017909.4(RMND1):c.661G>C (p.Gly221Arg) GRCh37: Chr6:151754318 GRCh38: Chr6:151433183	RMND1	G221R, G51R	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16515135.	NM_017909.4(RMND1):c.1077A>G (p.Leu359=) GRCh37: Chr6:151742382 GRCh38: Chr6:151421247	RMND1		Combined oxidative phosphorylation defect type 11, not provided	Likely benign (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16382806.	NM_017909.4(RMND1):c.614-18G>A GRCh37: Chr6:151754383 GRCh38: Chr6:151433248	RMND1		not provided, Combined oxidative phosphorylation defect type 11	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15175357.	NM_017909.4(RMND1):c.257C>T (p.Ala86Val) GRCh37: Chr6:151766690 GRCh38: Chr6:151445555	RMND1	A86V	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14960428.	NM_017909.4(RMND1):c.1159G>C (p.Asp387His) GRCh37: Chr6:151738455 GRCh38: Chr6:151417320	RMND1	D217H, D387H	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14683969.	NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser) GRCh37: Chr6:151726883 GRCh38: Chr6:151405748	RMND1	W260S, W430S	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144690310.	NM_017909.4(RMND1):c.795C>G (p.His265Gln) GRCh37: Chr6:151748652 GRCh38: Chr6:151427517	RMND1	H265Q, H95Q	Combined oxidative phosphorylation defect type 11, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141413411.	NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys) GRCh37: Chr6:151738530 GRCh38: Chr6:151417395	RMND1	R362C, R192C	Combined oxidative phosphorylation defect type 11, not provided	Uncertain significance (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139501912.	NM_017909.4(RMND1):c.188A>G (p.Asn63Ser) GRCh37: Chr6:151766759 GRCh38: Chr6:151445624	RMND1	N63S	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138951013.	NM_017909.4(RMND1):c.526T>A (p.Phe176Ile) GRCh37: Chr6:151757668 GRCh38: Chr6:151436533	RMND1	F6I, F176I	Inborn genetic diseases, Combined oxidative phosphorylation defect type 11, not provided	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138781014.	NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) GRCh37: Chr6:151726934-151726937 GRCh38: Chr6:151405799-151405802	RMND1	L242fs, L412fs	not provided, Combined oxidative phosphorylation defect type 11	Pathogenic/Likely pathogenic (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137263115.	NM_017909.4(RMND1):c.68G>A (p.Arg23Gln) GRCh37: Chr6:151766879 GRCh38: Chr6:151445744	RMND1	R23Q	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137189916.	NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr) GRCh37: Chr6:151726877 GRCh38: Chr6:151405742	RMND1	I262T, I432T	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136672017.	NM_017909.4(RMND1):c.260G>A (p.Arg87His) GRCh37: Chr6:151766687 GRCh38: Chr6:151445552	RMND1	R87H	Inborn genetic diseases, not provided, Combined oxidative phosphorylation defect type 11	Conflicting interpretations of pathogenicity (May 25, 2023)	criteria provided, conflicting interpretations
Select item 125491018.	NM_017909.4(RMND1):c.852G>C (p.Arg284Ser) GRCh37: Chr6:151744745 GRCh38: Chr6:151423610	RMND1	R114S, R284S	Combined oxidative phosphorylation defect type 11, not provided, Inborn genetic diseases	Uncertain significance (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124477219.	NM_017909.4(RMND1):c.1002+47T>G GRCh37: Chr6:151743629 GRCh38: Chr6:151422494	RMND1		not provided, Combined oxidative phosphorylation defect type 11	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107701620.	NM_017909.4(RMND1):c.859A>T (p.Ile287Phe) GRCh37: Chr6:151744738 GRCh38: Chr6:151423603	RMND1	I117F, I287F	Combined oxidative phosphorylation defect type 11	Likely pathogenic	criteria provided, single submitter
Select item 103201121.	NM_017909.4(RMND1):c.1318-11T>C GRCh37: Chr6:151726413 GRCh38: Chr6:151405278	RMND1		not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103201022.	NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys) GRCh37: Chr6:151742420 GRCh38: Chr6:151421285	RMND1	E347K, E177K	Combined oxidative phosphorylation defect type 11, not provided	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102966123.	NM_017909.4(RMND1):c.530C>T (p.Ala177Val) GRCh37: Chr6:151757664 GRCh38: Chr6:151436529	RMND1	A177V, A7V	Combined oxidative phosphorylation defect type 11	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 98195124.	NM_017909.4(RMND1):c.856del (p.Glu286fs) GRCh37: Chr6:151744741 GRCh38: Chr6:151423606	RMND1	E116fs, E286fs	Combined oxidative phosphorylation defect type 11	Pathogenic (May 25, 2020)	criteria provided, single submitter
Select item 91600525.	GRCh37/hg19 6q25.1(chr6:151757398-151757691) GRCh37: Chr6:151757398-151757691	RMND1		Combined oxidative phosphorylation defect type 11	Pathogenic (Apr 16, 2020)	no assertion criteria provided
Select item 80439726.	NM_017909.4(RMND1):c.727del (p.Thr243fs) GRCh37: Chr6:151751275 GRCh38: Chr6:151430140	RMND1	T73fs, T243fs	Combined oxidative phosphorylation defect type 11	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80228227.	NM_017909.4(RMND1):c.388del (p.Val130fs) GRCh37: Chr6:151766559 GRCh38: Chr6:151445424	RMND1	V130fs	Combined oxidative phosphorylation defect type 11	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80100228.	NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) GRCh37: Chr6:151744677 GRCh38: Chr6:151423542	RMND1	N307S, N137S	not provided, Combined oxidative phosphorylation defect type 11	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74287129.	NM_017909.4(RMND1):c.201C>A (p.Ile67=) GRCh37: Chr6:151766746 GRCh38: Chr6:151445611	RMND1		not provided, Combined oxidative phosphorylation defect type 11	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74037730.	NM_017909.4(RMND1):c.501C>T (p.Asn167=) GRCh37: Chr6:151766446 GRCh38: Chr6:151445311	RMND1		Combined oxidative phosphorylation defect type 11, not provided	Likely benign (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73596131.	NM_017909.4(RMND1):c.1167G>A (p.Thr389=) GRCh37: Chr6:151738447 GRCh38: Chr6:151417312	RMND1		not provided, Combined oxidative phosphorylation defect type 11	Benign/Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71440432.	NM_017909.4(RMND1):c.1209T>C (p.Asn403=) GRCh37: Chr6:151726963 GRCh38: Chr6:151405828	RMND1		not provided, Combined oxidative phosphorylation defect type 11	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66626633.	NM_017909.4(RMND1):c.1286A>T (p.Glu429Val) GRCh37: Chr6:151726886 GRCh38: Chr6:151405751	RMND1	E259V, E429V	Combined oxidative phosphorylation defect type 11	Uncertain significance (Jul 10, 2019)	criteria provided, single submitter
Select item 66626534.	NM_017909.4(RMND1):c.1049T>C (p.Met350Thr) GRCh37: Chr6:151742410 GRCh38: Chr6:151421275	RMND1	M350T, M180T	Combined oxidative phosphorylation defect type 11	Uncertain significance (Jul 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 50686635.	NM_017909.4(RMND1):c.690-20C>G GRCh37: Chr6:151751332 GRCh38: Chr6:151430197	RMND1		not specified, Combined oxidative phosphorylation defect type 11, not provided	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44093236.	NM_017909.4(RMND1):c.1085G>A (p.Arg362His) GRCh37: Chr6:151738529 GRCh38: Chr6:151417394	RMND1	R362H, R192H	not provided, Combined oxidative phosphorylation defect type 11	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 42471037.	NM_017909.3(RMND1):c.[613G>T];[713A>G]			Combined oxidative phosphorylation defect type 11	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 37490738.	NM_017909.2(RMND1):c.1003delG GRCh37: Chr6:151742456 GRCh38: Chr6:151421321	RMND1		Combined oxidative phosphorylation defect type 11	Pathogenic (Dec 21, 2016)	no assertion criteria provided
Select item 28083339.	NM_017909.4(RMND1):c.485del (p.Pro162fs) GRCh37: Chr6:151766462 GRCh38: Chr6:151445327	RMND1	P162fs	not provided, Combined oxidative phosphorylation defect type 11	Pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24263140.	NM_017909.3(RMND1):c.613G>T GRCh37: Chr6:151757581 GRCh38: Chr6:151436446	RMND1	D205Y, D35Y	Combined oxidative phosphorylation defect type 11	Pathogenic (Dec 21, 2016)	no assertion criteria provided
Select item 22525541.	NM_017909.3(RMND1):c.713A>G GRCh37: Chr6:151751289 GRCh38: Chr6:151430154	RMND1	N238S, N68S	Combined oxidative phosphorylation defect type 11, Mitochondrial oxidative phosphorylation disorder, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 14305142.	NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) GRCh37: Chr6:151726371 GRCh38: Chr6:151405236	RMND1		Inborn genetic diseases, Combined oxidative phosphorylation defect type 11	Conflicting interpretations of pathogenicity (Jan 18, 2021)	criteria provided, conflicting interpretations
Select item 13891743.	NM_017909.4(RMND1):c.125G>T (p.Ser42Ile) GRCh37: Chr6:151766822 GRCh38: Chr6:151445687	RMND1	S42I	not specified, not provided, Combined oxidative phosphorylation defect type 11	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13891344.	NM_017909.4(RMND1):c.783C>T (p.Ile261=) GRCh37: Chr6:151748664 GRCh38: Chr6:151427529	RMND1		not specified, not provided, Combined oxidative phosphorylation defect type 11	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13891245.	NM_017909.4(RMND1):c.689+17A>G GRCh37: Chr6:151754273 GRCh38: Chr6:151433138	RMND1		not provided, not specified, Combined oxidative phosphorylation defect type 11	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3976546.	NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) GRCh37: Chr6:151726922 GRCh38: Chr6:151405787	RMND1	R417Q, R247Q	Combined oxidative phosphorylation defect type 11	Pathogenic (Aug 15, 2021)	criteria provided, single submitter
Select item 3976447.	NM_017909.4(RMND1):c.504+1G>A GRCh37: Chr6:151766442 GRCh38: Chr6:151445307	RMND1		Combined oxidative phosphorylation defect type 11, Abnormality of the nervous system	Pathogenic/Likely pathogenic (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts

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Items: 47