ClinVar for MedGen (Select 1639653) - ClinVar - NCBI

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Items: 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26276131.	NM_017646.6(TRIT1):c.865C>T (p.His289Tyr) GRCh37: Chr1:40313283 GRCh38: Chr1:39847611	TRIT1	H207Y, H289Y	Combined oxidative phosphorylation deficiency 35	Uncertain significance (Oct 17, 2023)	criteria provided, single submitter
Select item 25855172.	NM_017646.6(TRIT1):c.1235-2A>G GRCh37: Chr1:40307587 GRCh38: Chr1:39841915	TRIT1		Combined oxidative phosphorylation deficiency 35	Likely pathogenic	criteria provided, single submitter
Select item 24373343.	NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val) GRCh37: Chr1:40309775 GRCh38: Chr1:39844103	TRIT1	A329V, A385V, A411V	Combined oxidative phosphorylation deficiency 35	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 16873634.	NM_017646.6(TRIT1):c.415-4A>G GRCh37: Chr1:40318552 GRCh38: Chr1:39852880	TRIT1		Combined oxidative phosphorylation deficiency 35	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16862745.	NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp) GRCh37: Chr1:40312931 GRCh38: Chr1:39847259	TRIT1	R241W, R323W	not provided, Combined oxidative phosphorylation deficiency 35	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16798486.	NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) GRCh37: Chr1:40310285 GRCh38: Chr1:39844613	TRIT1	Y263C, Y319C, Y345C	Combined oxidative phosphorylation deficiency 35	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 15669777.	NM_017646.6(TRIT1):c.1098C>T (p.Ile366=) GRCh37: Chr1:40310221 GRCh38: Chr1:39844549	TRIT1		Combined oxidative phosphorylation deficiency 35, not provided	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13658138.	NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr) GRCh37: Chr1:40349148 GRCh38: Chr1:39883476	TRIT1, MYCL-AS1	A6T	Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35, not provided	Uncertain significance (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13422749.	NM_017646.6(TRIT1):c.33C>T (p.Pro11=) GRCh37: Chr1:40349131 GRCh38: Chr1:39883459	MYCL-AS1, TRIT1		not provided, Combined oxidative phosphorylation deficiency 35	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130016010.	NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter) GRCh37: Chr1:40315926 GRCh38: Chr1:39850254	TRIT1	Q110, Q190	Combined oxidative phosphorylation deficiency 35	Pathogenic	criteria provided, single submitter
Select item 103385011.	NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr) GRCh37: Chr1:40309793 GRCh38: Chr1:39844121	TRIT1	I323T, I379T, I405T	Combined oxidative phosphorylation deficiency 35	Uncertain significance (Nov 28, 2018)	criteria provided, single submitter
Select item 102962812.	NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn) GRCh37: Chr1:40322975 GRCh38: Chr1:39857303	TRIT1	D97N	Combined oxidative phosphorylation deficiency 35, not provided	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 49294313.	NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) GRCh37: Chr1:40312930 GRCh38: Chr1:39847258	TRIT1	R323Q, R241Q	Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35	Pathogenic (Oct 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 43213314.	NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) GRCh37: Chr1:40312919 GRCh38: Chr1:39847247	TRIT1	R327, R245	Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases, not provided	Pathogenic/Likely pathogenic (Oct 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41768415.	NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) GRCh37: Chr1:40349142 GRCh38: Chr1:39883470	MYCL-AS1, TRIT1	R8*	Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35, not provided	Pathogenic/Likely pathogenic (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41768316.	NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) GRCh37: Chr1:40313292 GRCh38: Chr1:39847620	TRIT1	K286E, K204E	Combined oxidative phosphorylation deficiency 35	Uncertain significance (Oct 15, 2018)	criteria provided, single submitter
Select item 41768217.	NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) GRCh37: Chr1:40309803 GRCh38: Chr1:39844131	TRIT1	R402, R320, R376*	not provided, Combined oxidative phosphorylation deficiency 35	Conflicting interpretations of pathogenicity (Apr 15, 2021)	criteria provided, conflicting interpretations
Select item 41768118.	NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) GRCh37: Chr1:40313300 GRCh38: Chr1:39847628	TRIT1	I283S, I201S	Combined oxidative phosphorylation deficiency 35, not provided	Conflicting interpretations of pathogenicity (Aug 27, 2023)	criteria provided, conflicting interpretations
Select item 41768019.	NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) GRCh37: Chr1:40307564 GRCh38: Chr1:39841892	TRIT1	H419P, H393P, H337P	Combined oxidative phosphorylation deficiency 35	Uncertain significance (Oct 15, 2018)	criteria provided, single submitter