ClinVar for MedGen (Select 44095) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25063391.	NC_000011.9:g.(67377107_67377851)_(67380013_?)del GRCh37: Chr11:67377107-67380013	NDUFV1		Leigh syndrome	Likely pathogenic (May 1, 2023)	criteria provided, single submitter
Select item 25040382.	NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del) GRCh37: Chr11:67374465-67374488 GRCh38: Chr11:67606994-67607017	NDUFV1		Leigh syndrome	Likely pathogenic (Apr 12, 2023)	criteria provided, single submitter
Select item 25040373.	NC_000011.9:g.(67378042_67378465)_(67380013_?)del GRCh37: Chr11:67378042-67380013	NDUFV1		Leigh syndrome	Likely pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 25018084.	NC_012920.1(MT-CYB):m.15485C>T GRCh37: ChrMT:15485 GRCh38: ChrMT:15485	MT-CYB		Progressive external ophthalmoplegia, Kearns-Sayre syndrome, Leber optic atrophy, Leigh syndrome, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, NARP syndrome	not provided	no assertion provided
Select item 25012255.	NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter) GRCh37: Chr11:126141511 GRCh38: Chr11:126271616	FOXRED1	R89*	Leigh syndrome	Likely pathogenic (Mar 30, 2023)	criteria provided, single submitter
Select item 25011986.	NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs) GRCh37: Chr6:99323553-99323558 GRCh38: Chr6:98875677-98875682	FBXL4	K479fs	Leigh syndrome	Likely pathogenic (Mar 29, 2023)	criteria provided, single submitter
Select item 25011977.	NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs) GRCh37: Chr6:99323554-99323558 GRCh38: Chr6:98875678-98875682	FBXL4	K479fs	Leigh syndrome	Likely pathogenic (Mar 20, 2023)	criteria provided, single submitter
Select item 25009018.	NM_032709.3(PYROXD2):c.1062+2T>G GRCh37: Chr10:100152187 GRCh38: Chr10:98392430	PYROXD2		Leigh syndrome	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 24457739.	NM_002495.4(NDUFS4):c.221del (p.Thr74fs) GRCh37: Chr5:52942106 GRCh38: Chr5:53646276	NDUFS4	T74fs	Leigh syndrome	Likely pathogenic (Feb 10, 2023)	criteria provided, single submitter
Select item 244574310.	NM_003172.4(SURF1):c.817C>T (p.Gln273Ter) GRCh37: Chr9:136218932 GRCh38: Chr9:133352077	SURF1	Q164, Q273	Leigh syndrome	Pathogenic (Feb 7, 2023)	criteria provided, single submitter
Select item 244306811.	NC_012920.1(MT-ND5):m.12923G>A GRCh37: ChrMT:12923 GRCh38: ChrMT:12923	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Leber optic atrophy, Leigh syndrome	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 242931712.	NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs) GRCh37: Chr5:60241091-60241092 GRCh38: Chr5:60945264-60945265	NDUFAF2	W3fs	Leigh syndrome	Likely pathogenic (Jan 6, 2023)	criteria provided, single submitter
Select item 242918913.	NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs) GRCh37: Chr5:52979021-52979028 GRCh38: Chr5:53683191-53683198	NDUFS4	R169fs	Leigh syndrome	Likely pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 242464614.	NC_000009.11:g.(?_136223104)_(136223329_?)dup GRCh37: Chr9:136223104-136223329	SURF1		Leigh syndrome	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 242297015.	NC_000009.11:g.(?_135139626)_(140034216_?)dup GRCh37: Chr9:135139626-140034216	FCN1, GLT6D1, GFI1B, GPSM1, GRIN1, GTF3C4, FUT7, FCN2, GBGT1, ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5		Rafiq syndrome, Leigh syndrome, Tuberous sclerosis 1, Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 241778616.	NM_003172.4(SURF1):c.693C>G (p.Asp231Glu) GRCh37: Chr9:136219359 GRCh38: Chr9:133352504	SURF1	D122E, D231E	Leigh syndrome	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 241596817.	NM_003172.4(SURF1):c.30G>T (p.Gly10=) GRCh37: Chr9:136223300 GRCh38: Chr9:133356424	SURF1		Leigh syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 241500418.	NM_003172.4(SURF1):c.657G>C (p.Glu219Asp) GRCh37: Chr9:136219395 GRCh38: Chr9:133352540	SURF1	E110D, E219D	Leigh syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 241476719.	NM_003172.4(SURF1):c.510C>A (p.Asp170Glu) GRCh37: Chr9:136220609 GRCh38: Chr9:133353754	SURF1	D170E, D61E	Leigh syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 241384220.	NM_003172.4(SURF1):c.879C>G (p.Phe293Leu) GRCh37: Chr9:136218792 GRCh38: Chr9:133351937	SURF1	F184L, F293L	Leigh syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 241315621.	NM_015378.4(VPS13D):c.12662+1059C>G GRCh37: Chr1:12521510 GRCh38: Chr1:12461455	VPS13D		Leigh syndrome	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 241315522.	NM_015378.4(VPS13D):c.8687C>T (p.Thr2896Met) GRCh37: Chr1:12401897 GRCh38: Chr1:12341840	VPS13D	T2871M, T2896M	Leigh syndrome	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 241313923.	NM_018060.4(IARS2):c.547_550del (p.Lys183fs) GRCh37: Chr1:220273982-220273985 GRCh38: Chr1:220100640-220100643	IARS2	K183fs	Leigh syndrome	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 220241824.	NM_003172.4(SURF1):c.823A>G (p.Ile275Val) GRCh37: Chr9:136218926 GRCh38: Chr9:133352071	SURF1	I275V, I166V	Leigh syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 220236325.	NM_003172.4(SURF1):c.845C>G (p.Ser282Cys) GRCh37: Chr9:136218826 GRCh38: Chr9:133351971	SURF1	S282C, S173C	Leigh syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 219940126.	NM_003172.4(SURF1):c.304C>G (p.Pro102Ala) GRCh37: Chr9:136221533 GRCh38: Chr9:133354678	SURF1	P102A	not provided, Leigh syndrome	Uncertain significance (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219718027.	NM_003172.4(SURF1):c.106+16C>G GRCh37: Chr9:136223108 GRCh38: Chr9:133356253	SURF1		Leigh syndrome	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 219619328.	NM_003172.4(SURF1):c.833+11A>T GRCh37: Chr9:136218905 GRCh38: Chr9:133352050	SURF1		Leigh syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 219306529.	NM_003172.4(SURF1):c.200T>C (p.Leu67Pro) GRCh37: Chr9:136221719 GRCh38: Chr9:133354864	SURF1	L67P	Leigh syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 218869530.	NM_003172.4(SURF1):c.406C>T (p.Pro136Ser) GRCh37: Chr9:136220713 GRCh38: Chr9:133353858	SURF1	P136S, P27S	Leigh syndrome	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 218624331.	NC_000009.11:g.136221809_136221810insC GRCh37: Chr9:136221809-136221810 GRCh38: Chr9:133354954-133354955	SURF1		Leigh syndrome	Pathogenic (Nov 27, 2021)	criteria provided, single submitter
Select item 218460832.	NM_003172.4(SURF1):c.776T>C (p.Ile259Thr) GRCh37: Chr9:136218973 GRCh38: Chr9:133352118	SURF1	I150T, I259T	Leigh syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 218409633.	NM_003172.4(SURF1):c.588+12G>A GRCh37: Chr9:136219537 GRCh38: Chr9:133352682	SURF1		Leigh syndrome	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 218396034.	NM_003172.4(SURF1):c.201C>T (p.Leu67=) GRCh37: Chr9:136221718 GRCh38: Chr9:133354863	SURF1		Leigh syndrome	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 218121835.	NM_003172.4(SURF1):c.775A>G (p.Ile259Val) GRCh37: Chr9:136218974 GRCh38: Chr9:133352119	SURF1	I259V, I150V	Leigh syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 218016136.	NM_003172.4(SURF1):c.195C>T (p.Val65=) GRCh37: Chr9:136221724 GRCh38: Chr9:133354869	SURF1		Leigh syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 218006137.	NM_003172.4(SURF1):c.482A>G (p.Tyr161Cys) GRCh37: Chr9:136220637 GRCh38: Chr9:133353782	SURF1	Y52C, Y161C	Leigh syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 217975438.	NM_003172.4(SURF1):c.862C>T (p.Leu288=) GRCh37: Chr9:136218809 GRCh38: Chr9:133351954	SURF1		Leigh syndrome	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 217882439.	NM_003172.4(SURF1):c.384T>C (p.His128=) GRCh37: Chr9:136220735 GRCh38: Chr9:133353880	SURF1		Leigh syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 217744340.	NM_003172.4(SURF1):c.189G>A (p.Gln63=) GRCh37: Chr9:136221730 GRCh38: Chr9:133354875	SURF1		Leigh syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 217721741.	NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys) GRCh37: Chr9:136218928 GRCh38: Chr9:133352073	SURF1	Y165C, Y274C	Leigh syndrome	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 217611842.	NM_003172.4(SURF1):c.168G>A (p.Ala56=) GRCh37: Chr9:136221751 GRCh38: Chr9:133354896	SURF1		Leigh syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 217411243.	NM_003172.4(SURF1):c.588G>A (p.Gln196=) GRCh37: Chr9:136219549 GRCh38: Chr9:133352694	SURF1		Leigh syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 217409644.	NM_003172.4(SURF1):c.643C>T (p.Pro215Ser) GRCh37: Chr9:136219409 GRCh38: Chr9:133352554	SURF1	P215S, P106S	Leigh syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 217405845.	NM_003172.4(SURF1):c.240+9C>A GRCh37: Chr9:136221670 GRCh38: Chr9:133354815	SURF1		Leigh syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 217377546.	NM_003172.4(SURF1):c.59C>G (p.Pro20Arg) GRCh37: Chr9:136223171 GRCh38: Chr9:133356316	SURF1	P20R	Leigh syndrome	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 217362547.	NM_003172.4(SURF1):c.98C>G (p.Pro33Arg) GRCh37: Chr9:136223132 GRCh38: Chr9:133356277	SURF1	P33R	Leigh syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 217210648.	NM_003172.4(SURF1):c.323+19C>T GRCh37: Chr9:136221495 GRCh38: Chr9:133354640	SURF1		Leigh syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 217194349.	NM_003172.4(SURF1):c.607C>T (p.Leu203Phe) GRCh37: Chr9:136219445 GRCh38: Chr9:133352590	SURF1	L94F, L203F	Leigh syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 217021850.	NM_003172.4(SURF1):c.621G>A (p.Val207=) GRCh37: Chr9:136219431 GRCh38: Chr9:133352576	SURF1		Leigh syndrome	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 216044751.	NM_003172.4(SURF1):c.630A>G (p.Thr210=) GRCh37: Chr9:136219422 GRCh38: Chr9:133352567	SURF1		Leigh syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 215361352.	NM_003172.4(SURF1):c.833+15G>C GRCh37: Chr9:136218901 GRCh38: Chr9:133352046	SURF1		Leigh syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215299053.	NM_003172.4(SURF1):c.219C>G (p.Ala73=) GRCh37: Chr9:136221700 GRCh38: Chr9:133354845	SURF1		Leigh syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 215298054.	NM_003172.4(SURF1):c.861C>T (p.Tyr287=) GRCh37: Chr9:136218810 GRCh38: Chr9:133351955	SURF1		Leigh syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 215265455.	NM_003172.4(SURF1):c.515+1del GRCh37: Chr9:136220603 GRCh38: Chr9:133353748	SURF1		Leigh syndrome	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 215237656.	NM_003172.4(SURF1):c.260A>G (p.Lys87Arg) GRCh37: Chr9:136221577 GRCh38: Chr9:133354722	SURF1	K87R	Leigh syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215207257.	NC_000009.11:g.136218994_136218997del GRCh37: Chr9:136218994-136218997 GRCh38: Chr9:133352139-133352142	SURF1		Leigh syndrome	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 215113558.	NM_003172.4(SURF1):c.440G>A (p.Arg147Gln) GRCh37: Chr9:136220679 GRCh38: Chr9:133353824	SURF1	R147Q, R38Q	Leigh syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 215015759.	NM_003172.4(SURF1):c.410G>A (p.Arg137Gln) GRCh37: Chr9:136220709 GRCh38: Chr9:133353854	SURF1	R137Q, R28Q	Leigh syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 214961260.	NM_003172.4(SURF1):c.334C>T (p.Leu112=) GRCh37: Chr9:136220785 GRCh38: Chr9:133353930	SURF1		Leigh syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 214871761.	NM_003172.4(SURF1):c.430C>T (p.Arg144Trp) GRCh37: Chr9:136220689 GRCh38: Chr9:133353834	SURF1	R35W, R144W	Leigh syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 214707262.	NM_003172.4(SURF1):c.606_610dup (p.Ile204fs) GRCh37: Chr9:136219441-136219442 GRCh38: Chr9:133352586-133352587	SURF1	I95fs, I204fs	Leigh syndrome	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 214609063.	NM_003172.4(SURF1):c.573C>T (p.Thr191=) GRCh37: Chr9:136219564 GRCh38: Chr9:133352709	SURF1		Leigh syndrome	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 214514164.	NM_003172.4(SURF1):c.267C>T (p.Asn89=) GRCh37: Chr9:136221570 GRCh38: Chr9:133354715	SURF1		Leigh syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214445765.	NM_003172.4(SURF1):c.55-16CCGT[3] GRCh37: Chr9:136223183-136223184 GRCh38: Chr9:133356328-133356329	SURF1		Leigh syndrome	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 214372266.	NM_003172.4(SURF1):c.240+17G>A GRCh37: Chr9:136221662 GRCh38: Chr9:133354807	SURF1		Leigh syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214371667.	NM_003172.4(SURF1):c.295C>G (p.Leu99Val) GRCh37: Chr9:136221542 GRCh38: Chr9:133354687	SURF1	L99V	Leigh syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 214102868.	NM_003172.4(SURF1):c.309C>A (p.Val103=) GRCh37: Chr9:136221528 GRCh38: Chr9:133354673	SURF1		Leigh syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 214084869.	NM_003172.4(SURF1):c.668A>G (p.Glu223Gly) GRCh37: Chr9:136219384 GRCh38: Chr9:133352529	SURF1	E114G, E223G	Leigh syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214060970.	NM_003172.4(SURF1):c.190T>C (p.Trp64Arg) GRCh37: Chr9:136221729 GRCh38: Chr9:133354874	SURF1	W64R	Leigh syndrome	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 213683071.	NM_003172.4(SURF1):c.19_35dup (p.Ala13fs) GRCh37: Chr9:136223294-136223295 GRCh38: Chr9:133356418-133356419	SURF1	A13fs	Leigh syndrome	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 213682972.	NM_003172.4(SURF1):c.589-1G>C GRCh37: Chr9:136219464 GRCh38: Chr9:133352609	SURF1		Leigh syndrome	Pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 213354273.	NM_003172.4(SURF1):c.764C>A (p.Pro255His) GRCh37: Chr9:136218985 GRCh38: Chr9:133352130	SURF1	P255H, P146H	Leigh syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213126974.	NM_003172.4(SURF1):c.655G>C (p.Glu219Gln) GRCh37: Chr9:136219397 GRCh38: Chr9:133352542	SURF1	E219Q, E110Q	Leigh syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212981975.	NM_003172.4(SURF1):c.833+19T>C GRCh37: Chr9:136218897 GRCh38: Chr9:133352042	SURF1		Leigh syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212906776.	NM_003172.4(SURF1):c.598G>C (p.Glu200Gln) GRCh37: Chr9:136219454 GRCh38: Chr9:133352599	SURF1	E200Q, E91Q	Leigh syndrome	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212695777.	NM_003172.4(SURF1):c.827T>C (p.Val276Ala) GRCh37: Chr9:136218922 GRCh38: Chr9:133352067	SURF1	V167A, V276A	Leigh syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212524878.	NM_003172.4(SURF1):c.35G>T (p.Arg12Leu) GRCh37: Chr9:136223295 GRCh38: Chr9:133356419	SURF1	R12L	Leigh syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 212365279.	NM_003172.4(SURF1):c.759A>G (p.Thr253=) GRCh37: Chr9:136218990 GRCh38: Chr9:133352135	SURF1		Leigh syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 212067780.	NM_003172.4(SURF1):c.245A>T (p.Gln82Leu) GRCh37: Chr9:136221592 GRCh38: Chr9:133354737	SURF1	Q82L	Leigh syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 212023781.	NM_003172.4(SURF1):c.54+5_54+6delinsTT GRCh37: Chr9:136223270-136223271 GRCh38: Chr9:133356394-133356395	SURF1		Leigh syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211708282.	NM_003172.4(SURF1):c.833+10del GRCh37: Chr9:136218906 GRCh38: Chr9:133352051	SURF1		Leigh syndrome	Benign (Mar 30, 2022)	criteria provided, single submitter
Select item 211545483.	NM_003172.4(SURF1):c.661A>G (p.Asn221Asp) GRCh37: Chr9:136219391 GRCh38: Chr9:133352536	SURF1	N221D, N112D	Leigh syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211473884.	NM_003172.4(SURF1):c.707C>T (p.Ala236Val) GRCh37: Chr9:136219345 GRCh38: Chr9:133352490	SURF1	A127V, A236V	Leigh syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 210974885.	NM_003172.4(SURF1):c.850G>C (p.Ala284Pro) GRCh37: Chr9:136218821 GRCh38: Chr9:133351966	SURF1	A284P, A175P	Leigh syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 210761586.	NM_003172.4(SURF1):c.834-11T>C GRCh37: Chr9:136218848 GRCh38: Chr9:133351993	SURF1		Leigh syndrome	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210621187.	NM_003172.4(SURF1):c.108G>C (p.Gly36=) GRCh37: Chr9:136221811 GRCh38: Chr9:133354956	SURF1		Leigh syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210391788.	NM_003172.4(SURF1):c.208C>T (p.Pro70Ser) GRCh37: Chr9:136221711 GRCh38: Chr9:133354856	SURF1	P70S	Leigh syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210329089.	NM_003172.4(SURF1):c.831C>A (p.Thr277=) GRCh37: Chr9:136218918 GRCh38: Chr9:133352063	SURF1		Leigh syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210131190.	NM_003172.4(SURF1):c.903A>T (p.Ter301Cys) GRCh37: Chr9:136218768 GRCh38: Chr9:133351913	SURF1		Leigh syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 209547591.	NM_003172.4(SURF1):c.487G>A (p.Val163Ile) GRCh37: Chr9:136220632 GRCh38: Chr9:133353777	SURF1	V163I, V54I	Leigh syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209002492.	NM_003172.4(SURF1):c.55-5C>G GRCh37: Chr9:136223180 GRCh38: Chr9:133356325	SURF1		Leigh syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208735893.	NM_003172.4(SURF1):c.28G>A (p.Gly10Arg) GRCh37: Chr9:136223302 GRCh38: Chr9:133356426	SURF1	G10R	Leigh syndrome	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 208196194.	NM_003172.4(SURF1):c.751+7T>C GRCh37: Chr9:136219294 GRCh38: Chr9:133352439	SURF1		Leigh syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 208185795.	NM_003172.4(SURF1):c.107-5T>C GRCh37: Chr9:136221817 GRCh38: Chr9:133354962	SURF1		Leigh syndrome	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 208123796.	NM_003172.4(SURF1):c.751+1G>A GRCh37: Chr9:136219300 GRCh38: Chr9:133352445	SURF1		Leigh syndrome	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 207827097.	NM_003172.4(SURF1):c.665C>G (p.Pro222Arg) GRCh37: Chr9:136219387 GRCh38: Chr9:133352532	SURF1	P113R, P222R	Leigh syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 207758898.	NM_003172.4(SURF1):c.638G>C (p.Arg213Thr) GRCh37: Chr9:136219414 GRCh38: Chr9:133352559	SURF1	R104T, R213T	Leigh syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 207688799.	NM_003172.4(SURF1):c.442G>A (p.Glu148Lys) GRCh37: Chr9:136220677 GRCh38: Chr9:133353822	SURF1	E148K, E39K	Leigh syndrome	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 2076254100.	NM_003172.4(SURF1):c.703A>C (p.Met235Leu) GRCh37: Chr9:136219349 GRCh38: Chr9:133352494	SURF1	M126L, M235L	Leigh syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter

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