ClinVar for MedGen (Select 1750917) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25007031.	NM_004589.4(SCO1):c.220C>T (p.Pro74Ser) GRCh37: Chr17:10600605 GRCh38: Chr17:10697288	SCO1	P74S	Cytochrome-c oxidase deficiency disease	Uncertain significance (May 7, 2021)	criteria provided, single submitter
Select item 24464232.	NM_003172.4(SURF1):c.809_810dup (p.His271fs) GRCh37: Chr9:136218938-136218939 GRCh38: Chr9:133352083-133352084	SURF1	H162fs, H271fs	Cytochrome-c oxidase deficiency disease	Likely pathogenic	criteria provided, single submitter
Select item 24131613.	NM_003172.4(SURF1):c.187C>T (p.Gln63Ter) GRCh37: Chr9:136221732 GRCh38: Chr9:133354877	SURF1	Q63*	Cytochrome-c oxidase deficiency disease	Pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24131604.	NM_003172.4(SURF1):c.515+2T>C GRCh37: Chr9:136220602 GRCh38: Chr9:133353747	SURF1		Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24131595.	NM_003172.4(SURF1):c.227T>A (p.Leu76Ter) GRCh37: Chr9:136221692 GRCh38: Chr9:133354837	SURF1	L76*	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24131586.	NM_003172.4(SURF1):c.65del (p.Ser22fs) GRCh37: Chr9:136223165 GRCh38: Chr9:133356310	SURF1	S22fs	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24131577.	NM_003172.4(SURF1):c.49G>T (p.Gly17Ter) GRCh37: Chr9:136223281 GRCh38: Chr9:133356405	SURF1	G17*	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24131498.	NM_003172.4(SURF1):c.554dup (p.Lys186fs) GRCh37: Chr9:136219582-136219583 GRCh38: Chr9:133352727-133352728	SURF1	K186fs, K77fs	Cytochrome-c oxidase deficiency disease	Pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24131419.	NM_003172.4(SURF1):c.779G>A (p.Gly260Glu) GRCh37: Chr9:136218970 GRCh38: Chr9:133352115	SURF1	G151E, G260E	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241313210.	NM_003172.4(SURF1):c.584G>T (p.Gly195Val) GRCh37: Chr9:136219553 GRCh38: Chr9:133352698	SURF1	G195V, G86V	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241312811.	NM_003172.4(SURF1):c.899_902del (p.Val300fs) GRCh37: Chr9:136218769-136218772 GRCh38: Chr9:133351914-133351917	SURF1	V191fs, V300fs	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241312712.	NM_003172.4(SURF1):c.833+1del GRCh37: Chr9:136218915 GRCh38: Chr9:133352060	SURF1		Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241312613.	NM_003172.4(SURF1):c.516-1G>A GRCh37: Chr9:136219622 GRCh38: Chr9:133352767	SURF1		Cytochrome-c oxidase deficiency disease	Pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241312514.	NM_003172.4(SURF1):c.584G>A (p.Gly195Asp) GRCh37: Chr9:136219553 GRCh38: Chr9:133352698	SURF1	G195D, G86D	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241312415.	NM_003172.4(SURF1):c.856T>C (p.Ser286Pro) GRCh37: Chr9:136218815 GRCh38: Chr9:133351960	SURF1	S177P, S286P	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 149410116.	NM_003172.4(SURF1):c.703A>G (p.Met235Val) GRCh37: Chr9:136219349 GRCh38: Chr9:133352494	SURF1	M126V, M235V	Cytochrome-c oxidase deficiency disease, Leigh syndrome	Conflicting interpretations of pathogenicity (Jan 31, 2023)	criteria provided, conflicting interpretations
Select item 141607417.	NM_003172.4(SURF1):c.552del (p.Lys185fs) GRCh37: Chr9:136219585 GRCh38: Chr9:133352730	SURF1	K185fs, K76fs	Cytochrome-c oxidase deficiency disease, not provided, Leigh syndrome	Pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132901118.	NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) GRCh37: Chr9:136219562 GRCh38: Chr9:133352707	SURF1	R192Q, R83Q	Charcot-Marie-Tooth disease type 4K, Cytochrome-c oxidase deficiency disease, Leigh syndrome, Cytochrome-c oxidase deficiency disease	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 132366219.	NM_003172.4(SURF1):c.152dup (p.Ser52fs) GRCh37: Chr9:136221766-136221767 GRCh38: Chr9:133354911-133354912	SURF1	S52fs	not provided, Cytochrome-c oxidase deficiency disease	Pathogenic (Jul 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 131563820.	NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) GRCh37: Chr9:136223124 GRCh38: Chr9:133356269	SURF1	G36R	not provided, Inborn genetic diseases, Cytochrome-c oxidase deficiency disease	Conflicting interpretations of pathogenicity (Feb 10, 2023)	criteria provided, conflicting interpretations
Select item 121231921.	NM_003172.4(SURF1):c.491C>T (p.Thr164Ile) GRCh37: Chr9:136220628 GRCh38: Chr9:133353773	SURF1	T164I, T55I	Leigh syndrome, Cytochrome-c oxidase deficiency disease, not provided	Conflicting interpretations of pathogenicity (Jan 31, 2023)	criteria provided, conflicting interpretations
Select item 118221522.	NM_003172.4(SURF1):c.367_368del (p.Arg123fs) GRCh37: Chr9:136220751-136220752 GRCh38: Chr9:133353896-133353897	SURF1	R123fs, R14fs	not provided, Cytochrome-c oxidase deficiency disease, Charcot-Marie-Tooth disease type 4K, Leigh syndrome	Pathogenic (Apr 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117691123.	NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) GRCh37: Chr9:136220611 GRCh38: Chr9:133353756	SURF1	D170N, D61N	Cytochrome-c oxidase deficiency disease, Charcot-Marie-Tooth disease type 4K, not provided, Leigh syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103409824.	NM_004589.4(SCO1):c.263dup (p.Lys89fs) GRCh37: Chr17:10600561-10600562 GRCh38: Chr17:10697244-10697245	SCO1	K89fs	Cytochrome-c oxidase deficiency disease	Pathogenic (Nov 2, 2018)	criteria provided, single submitter
Select item 103363425.	NM_004074.3(COX8A):c.171G>T (p.Trp57Cys) GRCh37: Chr11:63743753 GRCh38: Chr11:63976281	COX8A	W57C	Cytochrome-c oxidase deficiency disease	Uncertain significance (Feb 22, 2018)	criteria provided, single submitter
Select item 103341026.	NM_016360.4(TACO1):c.97dup (p.Arg33fs) GRCh37: Chr17:61678534-61678535 GRCh38: Chr17:63601175-63601176	TACO1	R33fs	Cytochrome-c oxidase deficiency disease	Pathogenic (Apr 17, 2018)	criteria provided, single submitter
Select item 103295127.	NM_001370595.2(COA8):c.67G>T (p.Gly23Cys) GRCh37: Chr14:104029405 GRCh38: Chr14:103563068	COA8	G23C	not provided, Cytochrome-c oxidase deficiency disease	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103036928.	NM_001303.4(COX10):c.679G>A (p.Val227Ile) GRCh37: Chr17:14063248 GRCh38: Chr17:14159931	COX10	V227I	not provided, Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103036829.	NM_001303.4(COX10):c.637C>T (p.Pro213Ser) GRCh37: Chr17:14063206 GRCh38: Chr17:14159889	COX10	P213S	Cytochrome-c oxidase deficiency disease	Uncertain significance (Feb 7, 2020)	criteria provided, single submitter
Select item 103002430.	NM_001370595.2(COA8):c.-10dup GRCh37: Chr14:104029324-104029325 GRCh38: Chr14:103562987-103562988	COA8		not provided, Mitochondrial complex 4 deficiency, nuclear type 17, Cytochrome-c oxidase deficiency disease	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 102944731.	NM_016360.4(TACO1):c.476A>G (p.Lys159Arg) GRCh37: Chr17:61683761 GRCh38: Chr17:63606401	TACO1	K159R	Mitochondrial complex 4 deficiency, nuclear type 8, Cytochrome-c oxidase deficiency disease	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102827332.	NM_004589.4(SCO1):c.94C>G (p.Pro32Ala) GRCh37: Chr17:10600731 GRCh38: Chr17:10697414	LOC112529895, SCO1	P32A	not provided, Mitochondrial complex 4 deficiency, nuclear type 4, Cytochrome-c oxidase deficiency disease	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102827133.	NM_004589.4(SCO1):c.628A>C (p.Lys210Gln) GRCh37: Chr17:10595216 GRCh38: Chr17:10691899	SCO1	K210Q	Cytochrome-c oxidase deficiency disease	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 102791134.	NM_001136193.2(FASTKD2):c.452C>T (p.Pro151Leu) GRCh37: Chr2:207631869 GRCh38: Chr2:206767145	FASTKD2	P151L	Cytochrome-c oxidase deficiency disease	Uncertain significance (Nov 16, 2020)	criteria provided, single submitter
Select item 93147135.	NM_016360.4(TACO1):c.583del (p.Asp195fs) GRCh37: Chr17:61684713 GRCh38: Chr17:63607353	TACO1	D195fs	Cytochrome-c oxidase deficiency disease	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 90293936.	NM_005138.3(SCO2):c.541G>A (p.Val181Ile) GRCh37: Chr22:50962300 GRCh38: Chr22:50523871	SCO2, NCAPH2	V181I	not provided, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Cytochrome-c oxidase deficiency disease	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90044737.	NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) GRCh37: Chr22:50962668 GRCh38: Chr22:50524239	NCAPH2, SCO2	R58Q	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Inborn genetic diseases, not provided, Cytochrome-c oxidase deficiency disease	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90038738.	NM_005138.3(SCO2):c.226C>T (p.Leu76=) GRCh37: Chr22:50962615 GRCh38: Chr22:50524186	NCAPH2, SCO2		not provided, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Cytochrome-c oxidase deficiency disease	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89930539.	NM_001136193.2(FASTKD2):c.*2937A>C GRCh37: Chr2:207659463 GRCh38: Chr2:206794739	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 89930440.	NM_001136193.2(FASTKD2):c.*2885C>G GRCh37: Chr2:207659411 GRCh38: Chr2:206794687	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89930341.	NM_001136193.2(FASTKD2):c.*2463T>C GRCh37: Chr2:207658989 GRCh38: Chr2:206794265	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89925342.	NM_001136193.2(FASTKD2):c.*1406G>A GRCh37: Chr2:207657932 GRCh38: Chr2:206793208	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89925243.	NM_001136193.2(FASTKD2):c.*1295C>G GRCh37: Chr2:207657821 GRCh38: Chr2:206793097	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89919944.	NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) GRCh37: Chr2:207653599 GRCh38: Chr2:206788875	FASTKD2	D624Y	Cytochrome-c oxidase deficiency disease, Combined oxidative phosphorylation deficiency 44	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89919845.	NM_001136193.2(FASTKD2):c.1630G>A (p.Asp544Asn) GRCh37: Chr2:207652696 GRCh38: Chr2:206787972	FASTKD2	D544N	Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89919746.	NM_001136193.2(FASTKD2):c.1427+12T>G GRCh37: Chr2:207639133 GRCh38: Chr2:206774409	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89913347.	NM_001136193.2(FASTKD2):c.-190A>G GRCh37: Chr2:207630332 GRCh38: Chr2:206765608	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89827448.	NM_001136193.2(FASTKD2):c.*4009G>A GRCh37: Chr2:207660535 GRCh38: Chr2:206795811	FASTKD2		Cytochrome-c oxidase deficiency disease	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89827349.	NM_001136193.2(FASTKD2):c.*3862C>T GRCh37: Chr2:207660388 GRCh38: Chr2:206795664	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89827250.	NM_001136193.2(FASTKD2):c.*3730C>T GRCh37: Chr2:207660256 GRCh38: Chr2:206795532	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89820251.	NM_001136193.2(FASTKD2):c.*2374C>T GRCh37: Chr2:207658900 GRCh38: Chr2:206794176	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89820152.	NM_001136193.2(FASTKD2):c.*2346C>T GRCh37: Chr2:207658872 GRCh38: Chr2:206794148	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89820053.	NM_001136193.2(FASTKD2):c.*2141G>T GRCh37: Chr2:207658667 GRCh38: Chr2:206793943	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89819954.	NM_001136193.2(FASTKD2):c.*2107T>G GRCh37: Chr2:207658633 GRCh38: Chr2:206793909	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89814655.	NM_001136193.2(FASTKD2):c.*1158C>T GRCh37: Chr2:207657684 GRCh38: Chr2:206792960	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89814556.	NM_001136193.2(FASTKD2):c.*813G>A GRCh37: Chr2:207657339 GRCh38: Chr2:206792615	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89814457.	NM_001136193.2(FASTKD2):c.*799C>A GRCh37: Chr2:207657325 GRCh38: Chr2:206792601	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89807558.	NM_001136193.2(FASTKD2):c.1034G>A (p.Ser345Asn) GRCh37: Chr2:207636661 GRCh38: Chr2:206771937	FASTKD2	S345N	Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89807459.	NM_001136193.2(FASTKD2):c.999C>T (p.Ala333=) GRCh37: Chr2:207636626 GRCh38: Chr2:206771902	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89801760.	NM_014929.3(FASTKD2):c.-158T>C GRCh37: Chr2:207630271 GRCh38: Chr2:206765547	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89710461.	NM_001136193.2(FASTKD2):c.*3677G>T GRCh37: Chr2:207660203 GRCh38: Chr2:206795479	FASTKD2		Cytochrome-c oxidase deficiency disease	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89710362.	NM_001136193.2(FASTKD2):c.*3559G>A GRCh37: Chr2:207660085 GRCh38: Chr2:206795361	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89710263.	NM_001136193.2(FASTKD2):c.*3542C>A GRCh37: Chr2:207660068 GRCh38: Chr2:206795344	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89710164.	NM_001136193.2(FASTKD2):c.*3502G>A GRCh37: Chr2:207660028 GRCh38: Chr2:206795304	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89710065.	NM_001136193.2(FASTKD2):c.*3470C>T GRCh37: Chr2:207659996 GRCh38: Chr2:206795272	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89663866.	NM_001136193.2(FASTKD2):c.*3453A>T GRCh37: Chr2:207659979 GRCh38: Chr2:206795255	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89663767.	NM_001136193.2(FASTKD2):c.*3450G>C GRCh37: Chr2:207659976 GRCh38: Chr2:206795252	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89663668.	NM_001136193.2(FASTKD2):c.*3429G>A GRCh37: Chr2:207659955 GRCh38: Chr2:206795231	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89663569.	NM_001136193.2(FASTKD2):c.*3318G>C GRCh37: Chr2:207659844 GRCh38: Chr2:206795120	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89663470.	NM_001136193.2(FASTKD2):c.*3297C>G GRCh37: Chr2:207659823 GRCh38: Chr2:206795099	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89657371.	NM_001136193.2(FASTKD2):c.*2085G>C GRCh37: Chr2:207658611 GRCh38: Chr2:206793887	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89657272.	NM_001136193.2(FASTKD2):c.*2021G>A GRCh37: Chr2:207658547 GRCh38: Chr2:206793823	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89657173.	NM_001136193.2(FASTKD2):c.*1883T>G GRCh37: Chr2:207658409 GRCh38: Chr2:206793685	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89657074.	NM_001136193.2(FASTKD2):c.*1716A>G GRCh37: Chr2:207658242 GRCh38: Chr2:206793518	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89656975.	NM_001136193.2(FASTKD2):c.*1700A>G GRCh37: Chr2:207658226 GRCh38: Chr2:206793502	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89652776.	NM_001136193.2(FASTKD2):c.*328T>C GRCh37: Chr2:207656854 GRCh38: Chr2:206792130	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89652677.	NM_001136193.2(FASTKD2):c.*257G>A GRCh37: Chr2:207656783 GRCh38: Chr2:206792059	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89652578.	NM_001136193.2(FASTKD2):c.*104A>G GRCh37: Chr2:207656630 GRCh38: Chr2:206791906	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89645079.	NM_001136193.2(FASTKD2):c.945G>A (p.Lys315=) GRCh37: Chr2:207635969 GRCh38: Chr2:206771245	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89644980.	NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) GRCh37: Chr2:207632129 GRCh38: Chr2:206767405	FASTKD2	A238T	Combined oxidative phosphorylation deficiency 44, not provided, Cytochrome-c oxidase deficiency disease	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89644881.	NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) GRCh37: Chr2:207632100 GRCh38: Chr2:206767376	FASTKD2	Q228P	Combined oxidative phosphorylation deficiency 44, Cytochrome-c oxidase deficiency disease	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89527582.	NM_001136193.2(FASTKD2):c.*4326C>T GRCh37: Chr2:207660852 GRCh38: Chr2:206796128	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89527483.	NM_001136193.2(FASTKD2):c.*4266G>A GRCh37: Chr2:207660792 GRCh38: Chr2:206796068	FASTKD2		Cytochrome-c oxidase deficiency disease	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89527384.	NM_001136193.2(FASTKD2):c.*4237A>G GRCh37: Chr2:207660763 GRCh38: Chr2:206796039	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89527285.	NM_001136193.2(FASTKD2):c.*4222A>T GRCh37: Chr2:207660748 GRCh38: Chr2:206796024	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89522086.	NM_001136193.2(FASTKD2):c.*3231G>A GRCh37: Chr2:207659757 GRCh38: Chr2:206795033	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89521987.	NM_001136193.2(FASTKD2):c.*3135T>C GRCh37: Chr2:207659661 GRCh38: Chr2:206794937	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89521888.	NM_001136193.2(FASTKD2):c.*3121T>G GRCh37: Chr2:207659647 GRCh38: Chr2:206794923	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89521789.	NM_001136193.2(FASTKD2):c.*2997A>T GRCh37: Chr2:207659523 GRCh38: Chr2:206794799	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89521690.	NM_001136193.2(FASTKD2):c.*2994A>G GRCh37: Chr2:207659520 GRCh38: Chr2:206794796	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89514991.	NM_001136193.2(FASTKD2):c.*1579G>A GRCh37: Chr2:207658105 GRCh38: Chr2:206793381	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89514892.	NM_001136193.2(FASTKD2):c.*1578C>T GRCh37: Chr2:207658104 GRCh38: Chr2:206793380	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89514793.	NM_001136193.2(FASTKD2):c.*1494A>T GRCh37: Chr2:207658020 GRCh38: Chr2:206793296	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89514694.	NM_001136193.2(FASTKD2):c.*1464C>T GRCh37: Chr2:207657990 GRCh38: Chr2:206793266	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89514595.	NM_001136193.2(FASTKD2):c.*1450T>A GRCh37: Chr2:207657976 GRCh38: Chr2:206793252	FASTKD2		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89514496.	NM_001136193.2(FASTKD2):c.*1415T>G GRCh37: Chr2:207657941 GRCh38: Chr2:206793217	FASTKD2		Cytochrome-c oxidase deficiency disease	Likely benign (May 7, 2017)	criteria provided, single submitter
Select item 89508297.	NM_001136193.2(FASTKD2):c.2041G>A (p.Glu681Lys) GRCh37: Chr2:207656434 GRCh38: Chr2:206791710	FASTKD2	E681K	Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89508198.	NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) GRCh37: Chr2:207655390 GRCh38: Chr2:206790666	FASTKD2	M665V	Cytochrome-c oxidase deficiency disease, Combined oxidative phosphorylation deficiency 44, not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89501099.	NM_001136193.2(FASTKD2):c.485A>G (p.Glu162Gly) GRCh37: Chr2:207631902 GRCh38: Chr2:206767178	FASTKD2	E162G	Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 892464100.	NM_016360.4(TACO1):c.-168A>G GRCh37: Chr17:61678275 GRCh38: Chr17:63600916	TACO1		Cytochrome-c oxidase deficiency disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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