ClinVar for MedGen (Select 387884) - ClinVar

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Items: 62

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17099651.	NM_003321.5(TUFM):c.502T>A (p.Leu168Ile) GRCh37: Chr16:28856289 GRCh38: Chr16:28844968	TUFM	L168I	Combined oxidative phosphorylation defect type 4	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 12667942.	NM_003321.5(TUFM):c.922+29C>G GRCh37: Chr16:28855522 GRCh38: Chr16:28844201	TUFM		not provided, Combined oxidative phosphorylation defect type 4	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11650413.	NM_003321.5(TUFM):c.248-18G>A GRCh37: Chr16:28856819 GRCh38: Chr16:28845498	TUFM		Combined oxidative phosphorylation defect type 4, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10313244.	NM_003321.5(TUFM):c.100C>G (p.Leu34Val) GRCh37: Chr16:28857380 GRCh38: Chr16:28846059	TUFM	L34V	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jul 20, 2018)	criteria provided, single submitter
Select item 10285945.	NM_003321.5(TUFM):c.562G>A (p.Ala188Thr) GRCh37: Chr16:28856141 GRCh38: Chr16:28844820	TUFM	A188T	Combined oxidative phosphorylation defect type 4	Uncertain significance (Feb 21, 2020)	criteria provided, single submitter
Select item 8881106.	NM_003321.5(TUFM):c.12G>T (p.Met4Ile) GRCh37: Chr16:28857579 GRCh38: Chr16:28846258	LOC130058735, TUFM	M4I	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8881097.	NM_003321.5(TUFM):c.166C>G (p.Arg56Gly) GRCh37: Chr16:28857314 GRCh38: Chr16:28845993	TUFM	R56G	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8880468.	NM_003321.5(TUFM):c.*60T>G GRCh37: Chr16:28854236 GRCh38: Chr16:28842915	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8880459.	NM_003321.5(TUFM):c.*229G>A GRCh37: Chr16:28854067 GRCh38: Chr16:28842746	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88683510.	NM_003321.5(TUFM):c.470A>G (p.Asn157Ser) GRCh37: Chr16:28856321 GRCh38: Chr16:28845000	TUFM	N157S	not provided, Combined oxidative phosphorylation defect type 4	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88683411.	NM_003321.5(TUFM):c.519+14G>C GRCh37: Chr16:28856258 GRCh38: Chr16:28844937	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88676712.	NM_003321.5(TUFM):c.*270C>T GRCh37: Chr16:28854026 GRCh38: Chr16:28842705	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88676613.	NM_003321.5(TUFM):c.*433T>C GRCh37: Chr16:28853863 GRCh38: Chr16:28842542	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88583914.	NM_003321.5(TUFM):c.581T>C (p.Met194Thr) GRCh37: Chr16:28856122 GRCh38: Chr16:28844801	TUFM	M194T	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88583815.	NM_003321.5(TUFM):c.595G>C (p.Glu199Gln) GRCh37: Chr16:28856108 GRCh38: Chr16:28844787	TUFM	E199Q	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88583716.	NM_003321.5(TUFM):c.619A>C (p.Thr207Pro) GRCh37: Chr16:28856084 GRCh38: Chr16:28844763	TUFM	T207P	not provided, Combined oxidative phosphorylation defect type 4, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 88498417.	NM_003321.5(TUFM):c.-61C>T GRCh37: Chr16:28857651 GRCh38: Chr16:28846330	LOC130058735, TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88491818.	NM_003321.5(TUFM):c.800C>T (p.Ala267Val) GRCh37: Chr16:28855757 GRCh38: Chr16:28844436	TUFM	A267V	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88491719.	NM_003321.5(TUFM):c.810C>T (p.Ser270=) GRCh37: Chr16:28855747 GRCh38: Chr16:28844426	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88491620.	NM_003321.5(TUFM):c.825C>G (p.Gly275=) GRCh37: Chr16:28855648 GRCh38: Chr16:28844327	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 51684021.	NM_003321.5(TUFM):c.922+8A>G GRCh37: Chr16:28855543 GRCh38: Chr16:28844222	TUFM		Combined oxidative phosphorylation defect type 4, not specified	Conflicting interpretations of pathogenicity (Mar 12, 2018)	criteria provided, conflicting interpretations
Select item 48862922.	NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) GRCh37: Chr16:28855356 GRCh38: Chr16:28844035	TUFM	R330P, R302P	Combined oxidative phosphorylation defect type 4	Likely pathogenic (Nov 8, 2017)	criteria provided, single submitter
Select item 42510323.	NM_003321.5(TUFM):c.6C>T (p.Thr2=) GRCh37: Chr16:28857585 GRCh38: Chr16:28846264	LOC130058735, TUFM		not provided, Combined oxidative phosphorylation defect type 4	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 37952724.	NM_003321.5(TUFM):c.558T>C (p.Ala186=) GRCh37: Chr16:28856145 GRCh38: Chr16:28844824	TUFM		Combined oxidative phosphorylation defect type 4, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 37218325.	NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer) GRCh37: Chr16:28857318 GRCh38: Chr16:28845997	TUFM		Combined oxidative phosphorylation defect type 4	Pathogenic (Dec 5, 2016)	no assertion criteria provided
Select item 37218226.	NM_003321.5(TUFM):c.440T>A (p.Leu147His) GRCh37: Chr16:28856351 GRCh38: Chr16:28845030	TUFM	L147H	Combined oxidative phosphorylation defect type 4	Pathogenic (Dec 5, 2016)	no assertion criteria provided
Select item 31876027.	NM_003321.5(TUFM):c.-55T>C GRCh37: Chr16:28857645 GRCh38: Chr16:28846324	LOC130058735, TUFM		Combined oxidative phosphorylation defect type 4, not provided	Benign (Jun 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31875828.	NM_003321.5(TUFM):c.-44G>T GRCh37: Chr16:28857634 GRCh38: Chr16:28846313	LOC130058735, TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31875729.	NM_003321.5(TUFM):c.-37C>T GRCh37: Chr16:28857627 GRCh38: Chr16:28846306	LOC130058735, TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31875630.	NM_003321.5(TUFM):c.1A>G (p.Met1Val) GRCh37: Chr16:28857590 GRCh38: Chr16:28846269	LOC130058735, TUFM	M1V	Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31875531.	NM_003321.5(TUFM):c.248-13T>G GRCh37: Chr16:28856814 GRCh38: Chr16:28845493	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31875432.	NM_003321.5(TUFM):c.427G>A (p.Gly143Ser) GRCh37: Chr16:28856364 GRCh38: Chr16:28845043	TUFM	G143S	Combined oxidative phosphorylation defect type 4, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 31875333.	NM_003321.5(TUFM):c.519+15G>A GRCh37: Chr16:28856257 GRCh38: Chr16:28844936	TUFM		Combined oxidative phosphorylation defect type 4, not specified	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31875234.	NM_003321.5(TUFM):c.520-13C>G GRCh37: Chr16:28856196 GRCh38: Chr16:28844875	TUFM		not provided, Combined oxidative phosphorylation defect type 4	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31875135.	NM_003321.5(TUFM):c.568C>T (p.Gln190Ter) GRCh37: Chr16:28856135 GRCh38: Chr16:28844814	TUFM	Q190*	Combined oxidative phosphorylation defect type 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 31875036.	NM_003321.5(TUFM):c.684+8C>T GRCh37: Chr16:28856011 GRCh38: Chr16:28844690	TUFM		Combined oxidative phosphorylation defect type 4, not provided, not specified	Conflicting interpretations of pathogenicity (Jul 31, 2021)	criteria provided, conflicting interpretations
Select item 31874937.	NM_003321.5(TUFM):c.759C>T (p.Pro253=) GRCh37: Chr16:28855798 GRCh38: Chr16:28844477	TUFM		not provided, Combined oxidative phosphorylation defect type 4	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 31874838.	NM_003321.5(TUFM):c.760G>A (p.Ala254Thr) GRCh37: Chr16:28855797 GRCh38: Chr16:28844476	TUFM	A254T	Combined oxidative phosphorylation defect type 4, not provided	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 31874739.	NM_003321.5(TUFM):c.817+13T>C GRCh37: Chr16:28855727 GRCh38: Chr16:28844406	TUFM		not provided, Combined oxidative phosphorylation defect type 4	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31874640.	NM_003321.5(TUFM):c.894T>C (p.His298=) GRCh37: Chr16:28855579 GRCh38: Chr16:28844258	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31874541.	NM_003321.5(TUFM):c.923-9C>A GRCh37: Chr16:28855431 GRCh38: Chr16:28844110	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31874442.	NM_003321.5(TUFM):c.975C>T (p.Leu325=) GRCh37: Chr16:28855370 GRCh38: Chr16:28844049	TUFM		Combined oxidative phosphorylation defect type 4, not provided	Conflicting interpretations of pathogenicity (Apr 26, 2022)	criteria provided, conflicting interpretations
Select item 31874243.	NM_003321.5(TUFM):c.*24C>T GRCh37: Chr16:28854272 GRCh38: Chr16:28842951	TUFM		Combined oxidative phosphorylation defect type 4, not provided	Benign (Jul 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31874144.	NM_003321.5(TUFM):c.*37G>A GRCh37: Chr16:28854259 GRCh38: Chr16:28842938	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31874045.	NM_003321.5(TUFM):c.*110A>G GRCh37: Chr16:28854186 GRCh38: Chr16:28842865	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31873946.	NM_003321.5(TUFM):c.*149G>C GRCh37: Chr16:28854147 GRCh38: Chr16:28842826	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31873847.	NM_003321.5(TUFM):c.*300T>G GRCh37: Chr16:28853996 GRCh38: Chr16:28842675	TUFM		Combined oxidative phosphorylation defect type 4, not provided	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31873748.	NM_003321.5(TUFM):c.*349G>A GRCh37: Chr16:28853947 GRCh38: Chr16:28842626	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31873649.	NM_003321.5(TUFM):c.*370T>G GRCh37: Chr16:28853926 GRCh38: Chr16:28842605	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31873550.	NM_003321.5(TUFM):c.*398G>A GRCh37: Chr16:28853898 GRCh38: Chr16:28842577	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31873451.	NM_003321.5(TUFM):c.*445G>A GRCh37: Chr16:28853851 GRCh38: Chr16:28842530	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31873352.	NM_003321.5(TUFM):c.*517G>C GRCh37: Chr16:28853779 GRCh38: Chr16:28842458	TUFM		Combined oxidative phosphorylation defect type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31873253.	NM_003321.5(TUFM):c.*561A>T GRCh37: Chr16:28853735 GRCh38: Chr16:28842414	TUFM		Combined oxidative phosphorylation defect type 4, not provided	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 21531854.	NM_003321.5(TUFM):c.35C>G (p.Ala12Gly) GRCh37: Chr16:28857556 GRCh38: Chr16:28846235	LOC130058735, TUFM	A12G	not provided, Combined oxidative phosphorylation defect type 4	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21531455.	NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu) GRCh37: Chr16:28854316 GRCh38: Chr16:28842995	TUFM	K450E, K422E	Inborn genetic diseases, Combined oxidative phosphorylation defect type 4, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21531356.	NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) GRCh37: Chr16:28854372 GRCh38: Chr16:28843051	TUFM	N431S, N403S	Combined oxidative phosphorylation defect type 4, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 19, 2023)	criteria provided, conflicting interpretations
Select item 21531157.	NM_003321.5(TUFM):c.622G>A (p.Glu208Lys) GRCh37: Chr16:28856081 GRCh38: Chr16:28844760	TUFM	E208K	Inborn genetic diseases, not provided, Combined oxidative phosphorylation defect type 4	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21530958.	NM_003321.5(TUFM):c.1120G>A (p.Val374Met) GRCh37: Chr16:28855131 GRCh38: Chr16:28843810	TUFM	V374M, V346M	not provided, Combined oxidative phosphorylation defect type 4	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 13786259.	NM_003321.5(TUFM):c.198C>T (p.Ile66=) GRCh37: Chr16:28857282 GRCh38: Chr16:28845961	TUFM		not provided, not specified, Combined oxidative phosphorylation defect type 4	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13786060.	NM_003321.5(TUFM):c.684+6C>T GRCh37: Chr16:28856013 GRCh38: Chr16:28844692	TUFM		not provided, not specified, Combined oxidative phosphorylation defect type 4	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13785961.	NM_003321.5(TUFM):c.520-8A>T GRCh37: Chr16:28856191 GRCh38: Chr16:28844870	TUFM		not specified, not provided, Combined oxidative phosphorylation defect type 4	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 727562.	NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln) GRCh37: Chr16:28855329 GRCh38: Chr16:28844008	TUFM	R339Q, R311Q	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter

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Items: 62