Unique variants in gene GK

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001205019.1 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 1_21 c.(?_-179)_(*1866_?)del pathogenic (recessive) r.0 p.0 g.? - - - GK_000022 contiguous gene syndrome PubMed: Hellerud 2003 - - Germline - - - - - Johan den Dunnen
+/., +/+ 5 _1_21_, -1-21_ c.(?_-1)_(*1_?)del - r.0, r.0? p.0, p.0? g.(?_30322695)_(30746860_?)del, g.(28606165_28771534)_(30746860_31140035)del, 3 more items g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - NR0B1_000002, GK_010028, DMD_010079, DMD_040078, DMD_040261 large deletion, incl. GKD gene, deletion incl. IL1RAPL1, NR0B1, GK, 658 kb deletion incl. GKD_3'DMD, 1 more item PubMed: Guo 1995, PubMed: Carrie 1999, PubMed: Zhang 2004, PubMed: Zhang 2004, Journal: Zhang 2004, 1 more item - - Germline, Unknown, Germline/De novo (untested) yes - - - - Bert Bakker, Johan den Dunnen
+/+, +/. 13 _1_21_ c.0 pathogenic (recessive) r.0 p.0 g.(25040000_28600000)_(33229674_?)del, g.(28606165_29935580)_(33229674_?)del, g.29949219_31144301del, 7 more items g.(?_31120395)_(31875268_31929698)del, g.(?_31120395)_(32849786_33020173)del, g.29931102_31126184del c.(6912+1_6913-1)_*2691[0], c.(93+1_94-1)_(*2691_?)del - DMD_040079, DMD_040080, DMD_040081, DMD_040082, DMD_003417, DMD_014879, DMD_003416, DMD_003415, 2 more items deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD, deletion incl. NR0B1 (DAX1), GK, DMD, 6 more items PubMed: Zhang 2004, Journal: Zhang 2004, PubMed: Piko 2009, PubMed: Loke 2009, PubMed: Tomar 2019, 1 more item - - Unknown, Germline, Germline/De novo (untested) yes, - - - - - Johan den Dunnen, Poh San Lai
+/. 2 1_21 c.? pathogenic (recessive) r.(?) p.? g.? - - - GK_000000 carries GPD2:[791A>G];[791A>G] (His264Arg), unknown variant PubMed: Hellerud 2003, PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
./. 1 - c.78+164G>C - r.(=) p.(=) g.30671896G>C g.30653779G>C - - GK_010026 - - - - Germline - - - - - Yu Sun
-/., -?/., ./. 6 3 c.165G>A benign, likely benign r.(?), r.(=) p.(=) g.30686141G>A g.30668024G>A Q55Q - GK_000009, GK_010016 recurrent, found 22 times; for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Gaudet 2000, PubMed: Sargent 2000, PubMed: Tarpey 2009 - - Germline - 4/40 AvaII- - - Johan den Dunnen, Yu Sun
+/. 1 3 c.182T>C pathogenic (recessive) r.182u>c p.Leu61Pro g.30686158T>C - - - GK_000025 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.259+1G>A pathogenic (recessive) r.153_259del p.Trp52Tyrfs*29 g.30686236G>A - IVS3+1G>A - GK_000026 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.259+1354G>A benign r.(=) p.(=) g.30687589G>A - GK(NM_000167.5):c.259+1354G>A (p.?) - GK_010041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 3i c.259+2254G>A pathogenic (recessive) r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467] p.[Ala87Valfs*3, Trp52Tyrfs*24] g.30688489G>A - - - GK_000012 not in100 normal chromosomes PubMed: Sargent 2000, PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.287C>T pathogenic (recessive) r.(?) p.(Thr96Ile) g.30695519C>T - - - GK_000027 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - - - - Johan den Dunnen
./. 1 - c.337+385dup - r.(=) p.(=) g.30695954dup g.30677837dup - - GK_010019 - - - - Germline - - - - - Yu Sun
+?/. 1 4i c.338-43_338-42ins316; 338-52_338-43dup likely pathogenic (recessive) r.[=, 338_414del] p.[=, Trp114Glnfs*7] g.? - IVS4-52ins316alu - GK_000007 insertion reverse AluY sequence (74bp T-tail); not in 167 control chromosomes; PubMed: Zhang 2000, PubMed: Zhang 2006, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.338-1G>A pathogenic (recessive) r.338_414del p.Trp114Glnfs*7 g.30709239G>A - IVS4-1G>A - GK_000028 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.367G>A likely benign r.(?) p.(Val123Ile) g.30709269G>A - GK(NM_001205019.1):c.367G>A (p.V123I) - GK_010042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.552+142G>C - r.(=) p.(=) g.30712796G>C g.30694679G>C - - GK_010020 - - - - Germline - - - - - Yu Sun
./. 2 - c.553-102C>T - r.(=) p.(=) g.30714057C>T g.30695940C>T - - GK_010023 - - - - Germline - - - - - Yu Sun
+/. 1 7 c.553-1G>C pathogenic (recessive) r.553_554del p.Ser184Phefs*17 g.30714158G>C - IVS6-1G>C - GK_000001 strongly reduced levels all 3 GK-transcricpts PubMed: Walker 1996, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.593A>G pathogenic (recessive) r.(?) p.(Asp198Gly) g.30714199A>G - 593A>G (D198G) - GK_000017 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.601A>G pathogenic (recessive) r.(?) p.(Asn201Asp) g.30714207A>G - 601A>G (D201N) - GK_000029 - PubMed: Hellerud 2004 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.661G>A likely benign r.(?) p.(Glu221Lys) g.30714267G>A - GK(NM_001205019.1):c.661G>A (p.E221K) - GK_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.729+8_729+9insACAA likely benign r.(=) p.(=) g.30714808_30714809insACAA - GK(NM_000167.5):c.729+5_729+6insAAAC (p.?) - GK_010043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 8i c.729+17C>A benign r.(?) p.(=) g.30714817C>A - IVS8+17C>A - GK_000030 - PubMed: Sargent 2000 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.729+21_729+24dup likely benign - - g.30714821_30714824dup - GK:NM_000167.5:c.729+5_729+6insAAAC, NM_001128127.2:c.729+5_729+6insAAAC, … - GK_010035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.730-252T>C - r.(=) p.(=) g.30715597T>C g.30697480T>C - - GK_010025 - - - - Germline - - - - - Yu Sun
./. 2 - c.730-22C>T - r.(=) p.(=) g.30715827C>T g.30697710C>T - - GK_010004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.745G>A VUS r.(?) p.(Val249Met) g.30715864G>A - GK(NM_001205019.1):c.745G>A (p.(Val249Met)) - GK_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.748-9T>C likely benign r.(=) p.(=) g.30718522T>C - GK(NM_001205019.1):c.748-9T>C - GK_010037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.748-5A>T likely benign, benign r.spl? p.? g.30718526A>T - GK(NM_000167.5):c.730-5A>T (p.?) - GK_010038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./. 2 - c.784-79_784-78insAAAT - r.(=) p.(=) g.30718876_30718877insAAAT g.30700759_30700760insAAAT - - GK_010027 - - - - Germline - - - - - Yu Sun
./. 2 - c.784-75_784-74insAAAT - r.(=) p.(=) g.30718880_30718881insAAAT g.30700763_30700764insAAAT - - GK_010007 - - - - Germline - - - - - Yu Sun
+/. 1 11 c.784T>C pathogenic (recessive) r.784u>c p.262CysArg g.30718955T>C - 766T>C (C256R) - GK_000013 not in 40 normal chromosomes PubMed: Sargent 2000 - - Germline - - TspRI- - - Johan den Dunnen
+/., +?/. 2 11 c.851C>T likely pathogenic r.(spl?), r.(?) p.(Thr284Met) g.30719022C>T g.30700905C>T 833C>T (Thr278Met), GK(NM_000167.5):c.833C>T (p.T278M) - GK_010033 VKGL data sharing initiative Nederland PubMed: Romero 1997 - - Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL
./. 1 - c.851+334A>G - r.(=) p.(=) g.30719356A>G g.30701239A>G - - GK_010009 - - - - Germline - - - - - Yu Sun
+/. 2 11i c.852-1G>A pathogenic (recessive) r.spl p.? g.30725672G>A - IVS9A-1G>A - GK_000031 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - - - - Johan den Dunnen
+/. 4 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.? g.? - del Ex9-end - GK_000004 - PubMed: Sjarif 1998, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.857G>C pathogenic (recessive) r.(?) p.(Gly286Ala) g.30725678G>C - Gly280Ala - GK_000011 - PubMed: Wibmer 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.880A>G pathogenic (recessive) r.(?) p.(Asn294Asp) g.30725701A>G - N288D, 862A>G (N288D) - GK_000008 shared haplotype DXS8039-DXS997, not in >100 normal chromosomes PubMed: Gaudet 2000, OMIM:var0007, PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 12i c.894+1G>T pathogenic (recessive) r.852_894del p.Tyr845Valfs*30 g.30725716G>T - IVS10+1G>T - GK_000032 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.895-7C>T likely benign r.(=) p.(=) g.30726164C>T - GK(NM_000167.5):c.877-7C>T (p.(=)) - GK_010044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 13 c.932C>T pathogenic (recessive) r.(?) p.(Ala311Val) g.30726208C>T - 914C>T (A305V) - GK_000018 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.946A>T pathogenic (recessive) r.(?) p.(Arg316*) g.30726222A>T - 1042T>A (R310X) - GK_000014 - PubMed: Sargent 2000 - - Germline - - - - - Johan den Dunnen
./. 2 - c.1054+22G>T - r.(=) p.(=) g.30736755G>T g.30718638G>T - - GK_010010 - - - - Germline - - - - - Yu Sun
-/. 1 14i c.1055+22G>T benign r.(?) p.(=) g.30737558G>T - - - GK_000010 - PubMed: Gaudet 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 15 c.1091G>A pathogenic (recessive) r.(?) p.(Cys364Tyr) g.30737572G>A - 1073G>A (C358Y) - GK_000023 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - Fnu4H- - - Johan den Dunnen
+/. 1 16 c.1212A>C pathogenic (recessive) r.1212a>c p.Glu404Asp g.30738188A>C - 1194A>C (E398D) - GK_000024 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
+/. 2 16 c.1225C>T pathogenic (recessive) r.(?) p.(Gln409*) g.30738201C>T - 1207C>T (Q403X) - GK_000015 - PubMed: Sargent 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1231C>T pathogenic r.(?) p.(Arg411*) g.30738207C>T - GK(NM_203391.3):c.1231C>T (p.R411*) - GK_010039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 16 c.1232G>A pathogenic (recessive) r.(?) p.(Arg411Gln) g.30738208G>A - 1214G>A (R405Q) - GK_000019 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1236+1G>A VUS r.spl? p.? g.30738213G>A - GK(NM_001205019.1):c.1236+1G>A - GK_010040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 17 c.1255C>T pathogenic (recessive) r.(?) p.(Arg419*) g.30738756C>T - C1351T (R413X) - GK_000005 - PubMed: Sjarif 1998, OMIM:var0005 - - Germline - - TaqI- - - Johan den Dunnen
+/. 1 17 c.1301T>C pathogenic (recessive) r.(?) p.(Met434Thr) g.30738802T>C - 1283T>C (M428T) - GK_000020 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.1331A>G pathogenic (recessive) r.(?) p.(Gln444Arg) g.30738832A>G - 1313A>G (Q438R) - GK_000021 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.1337A>T pathogenic (recessive) r.1337a>u p.Asp446Val g.30738838A>T - D440V - GK_000003 reduced GK-transcripts; not in 100 control chromosomes PubMed: Walker 1996, OMIM:var0003 - - Germline - - - - - Johan den Dunnen
-/., ./. 3 17i c.1357+20T>C benign r.?, r.(=) p.?, p.(=) g.30738878T>C g.30720761T>C NM_000167.5:c.1339+20T>C - GK_000034, GK_010013 - from website {DBsub-Emory} - - Unknown, Germline - - - - - Madhuri Hegde, Yu Sun
+/. 3 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.1502_1582del, r.(?) p.Ser502_Gly528del g.? - del Ex17 - GK_000002 5 Kb deletion; reduced GK-transcripts, extra 4.7Kb transcript, 1 more item PubMed: Walker 1996, OMIM:var0002, PubMed: Hellerud 2004 - - Germline - - - - - Johan den Dunnen
+/. 3 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg) g.30742241T>C - T1651C (W503R) - GK_000006 not in 100 control chromosomes PubMed: Sjarif 1998, OMIM:var0006 - rs2893548 Germline - - NlaIII- - - Johan den Dunnen
-?/. 1 - c.1651G>A likely benign r.(?) p.(Gly551Arg) g.30745651G>A - GK(NM_001205019.1):c.1651G>A (p.G551R) - GK_010045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.*340C>T - r.(=) p.(=) g.30747199C>T g.30729082C>T - - GK_010001 - - - - Germline - - - - - Yu Sun
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