Unique variants in the GK gene

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.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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 r.0 p.0 - pathogenic (recessive) 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? - pathogenic, pathogenic (recessive) g.(25034000_28807460)_(31645980_31676106)del, g.(28606165_28771534)_(30746860_31140035)del, 3 more items g.(?_31119228)_(33339609_?)del - - DMD_040078, DMD_040261, DMD_050080, GK_010028, NR0B1_000002 658 kb deletion incl. GKD_3'DMD, deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial), 2 more items L Medne ASHG 2010 A1669, PubMed: Carrie 1999, PubMed: Guo 1995, PubMed: Zhang 2004, 1 more item - - Germline, Germline/De novo (untested), Unknown yes - - - - Johan den Dunnen, Bert Bakker
+/. 1 _1_21_ c.-179_*2720{0} r.0 p.0 - pathogenic (recessive) g.29949219_31144301del g.29931102_31126184del - - DMD_000533 breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3' sequence replacing ex79 PubMed: Jin 2000, PubMed: Greener 2002, GenBank AF181286.1 - - Germline yes - - - - Johan den Dunnen
+/. 1 _1_21_ c.-179_*{0} r.0 p.0 - pathogenic (recessive) g.(?_30322539)_(33357493_?)del g.(?_30304422)_(33339377_?)del - - DMD_010080 deletion incl. GK, NR0B1 and DMD gene PubMed: Tao 2022 - - Germline - - - - - Johan den Dunnen
+/+, +/. 16 _1_21_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del, g.(25040000_28600000)_(31241239_31279071)del, 11 more items g.(28180000_28480000)_(31968515_32216915)del, g.(29668505_29917463)_(31348635_31444480)del, 2 more items hg19 25878399_31987991del, hg19 29008175–31496701del - DMD_003415, DMD_003416, DMD_003417, DMD_040079, DMD_040080, DMD_040081, DMD_040082, DMD_050380, 5 more items 2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD, deletion incl. GK and DMD, 9 more items PubMed: Heide 2015, PubMed: Korkut 2016, PubMed: Loke 2009, PubMed: Tomar 2019, PubMed: Piko 2009, 1 more item - - De novo, Germline, Germline/De novo (untested), Unknown -, yes - - - X-inactivation CpG island 5' CAG repeat AR gene 59%:41%, 1 more item Johan den Dunnen, Poh San Lai
+/. 2 1_21 c.? r.(?) p.? - pathogenic (recessive) 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.(=) - VUS g.30671896G>C g.30653779G>C - - GK_010026 - - - - Germline - - - - - Yu Sun
-/., -?/., ./. 6 3 c.165G>A r.(=), r.(?) p.(=) - benign, likely benign, VUS 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 r.182u>c p.Leu61Pro - pathogenic (recessive) g.30686158T>C g.30668041T>C - - GK_000025 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.259+1G>A r.153_259del p.Trp52Tyrfs*29 - pathogenic (recessive) g.30686236G>A g.30668119G>A IVS3+1G>A - GK_000026 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.259+1354G>A r.(=) p.(=) - benign g.30687589G>A g.30669472G>A - - GK_010041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 3i c.259+2254G>A r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467] p.[Ala87Valfs*3, Trp52Tyrfs*24] - pathogenic (recessive) g.30688489G>A g.30670372G>A - - GK_000012 not in100 normal chromosomes PubMed: Sargent 2000, PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.259+2333G>T r.(=) p.(=) - benign g.30688568G>T - - - GK_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.287C>T r.(?) p.(Thr96Ile) - pathogenic (recessive) g.30695519C>T g.30677402C>T - - GK_000027 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - - - - Johan den Dunnen
./. 1 - c.337+385dup r.(=) p.(=) - VUS g.30695954dup g.30677837dup - - GK_010019 - - - - Germline - - - - - Yu Sun
+?/. 1 4i c.338-43_338-42ins316; 338-52_338-43dup r.[=, 338_414del] p.[=, Trp114Glnfs*7] - likely pathogenic (recessive) 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 r.338_414del p.Trp114Glnfs*7 - pathogenic (recessive) g.30709239G>A g.30691122G>A IVS4-1G>A - GK_000028 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.367G>A r.(?) p.(Val123Ile) - likely benign g.30709269G>A g.30691152G>A GK(NM_001205019.1):c.367G>A (p.V123I) - GK_010042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.380G>T r.(?) p.(Ser127Ile) - likely benign g.30709282G>T - GK(NM_001205019.1):c.380G>T (p.S127I) - GK_010055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.552+142G>C r.(=) p.(=) - VUS g.30712796G>C g.30694679G>C - - GK_010020 - - - - Germline - - - - - Yu Sun
./. 2 - c.553-102C>T r.(=) p.(=) - VUS g.30714057C>T g.30695940C>T - - GK_010023 - - - - Germline - - - - - Yu Sun
+/. 1 7 c.553-1G>C r.553_554del p.Ser184Phefs*17 - pathogenic (recessive) g.30714158G>C g.30696041G>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 r.(?) p.(Asp198Gly) - pathogenic (recessive) g.30714199A>G g.30696082A>G 593A>G (D198G) - GK_000017 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.601A>G r.(?) p.(Asn201Asp) - pathogenic (recessive) g.30714207A>G g.30696090A>G 601A>G (D201N) - GK_000029 - PubMed: Hellerud 2004 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.661G>A r.(?) p.(Glu221Lys) - likely benign g.30714267G>A g.30696150G>A GK(NM_001205019.1):c.661G>A (p.E221K) - GK_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 8i c.729+17C>A r.(?) p.(=) - benign g.30714817C>A g.30696700C>A IVS8+17C>A - GK_000030 - PubMed: Sargent 2000 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.729+21_729+24del r.(=) p.(=) - likely benign g.30714821_30714824del g.30696704_30696707del GK(NM_001205019.1):c.729+21_729+24delCAAA - GK_010046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 - c.730-252T>C r.(=) p.(=) - VUS g.30715597T>C g.30697480T>C - - GK_010025 - - - - Germline - - - - - Yu Sun
./. 2 - c.730-22C>T r.(=) p.(=) - VUS g.30715827C>T g.30697710C>T - - GK_010004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.745G>A r.(?) p.(Val249Met) - VUS g.30715864G>A g.30697747G>A GK(NM_001205019.1):c.745G>A (p.(Val249Met)) - GK_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.748-9T>C r.(=) p.(=) - likely benign g.30718522T>C g.30700405T>C GK(NM_001205019.1):c.748-9T>C - GK_010037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.748-5A>T r.spl? p.? - benign, likely benign g.30718526A>T g.30700409A>T GK(NM_000167.5):c.730-5A>T (p.?), GK(NM_001205019.1):c.748-5A>T - GK_010038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./. 4 - c.784-78_784-75dup r.(=) p.(=) - VUS g.30718877_30718880dup g.30700760_30700763dup - - GK_010007, GK_010027 - - - - Germline - - - - - Yu Sun
+/. 1 11 c.784T>C r.784u>c p.262CysArg - pathogenic (recessive) g.30718955T>C g.30700838T>C 766T>C (C256R) - GK_000013 not in 40 normal chromosomes PubMed: Sargent 2000 - - Germline - - TspRI- - - Johan den Dunnen
+/., +?/. 2 11 c.851C>T r.(?), r.(spl?) p.(Thr284Met) - likely pathogenic, pathogenic 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 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Utrecht
./. 1 - c.851+334A>G r.(=) p.(=) - VUS g.30719356A>G g.30701239A>G - - GK_010009 - - - - Germline - - - - - Yu Sun
+/. 2 11i c.852-1G>A r.spl p.? - pathogenic (recessive) g.30725672G>A g.30707555G>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 r.? p.? - pathogenic (recessive) g.? - del Ex9-end - GK_000004 - PubMed: Sjarif 1998, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.855T>C r.(?) p.(Tyr285=) - likely benign g.30725676T>C g.30707559T>C GK(NM_001205019.1):c.855T>C (p.Y285=) - GK_010048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 12 c.857G>C r.(?) p.(Gly286Ala) - pathogenic (recessive) g.30725678G>C g.30707561G>C Gly280Ala - GK_000011 - PubMed: Wibmer 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.880A>G r.(?) p.(Asn294Asp) - pathogenic (recessive) g.30725701A>G g.30707584A>G 862A>G (N288D), N288D - GK_000008 not in >100 normal chromosomes, shared haplotype DXS8039-DXS997 PubMed: Dipple 2001, PubMed: Gaudet 2000, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
+/. 1 12i c.894+1G>T r.852_894del p.Tyr845Valfs*30 - pathogenic (recessive) g.30725716G>T g.30707599G>T IVS10+1G>T - GK_000032 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.895-7C>T r.(=) p.(=) - likely benign g.30726164C>T g.30708047C>T GK(NM_000167.5):c.877-7C>T (p.(=)) - GK_010044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 13 c.932C>T r.(?) p.(Ala311Val) - pathogenic (recessive) g.30726208C>T g.30708091C>T 914C>T (A305V) - GK_000018 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.946A>T r.(?) p.(Arg316*) - pathogenic (recessive) g.30726222A>T g.30708105A>T 1042T>A (R310X) - GK_000014 - PubMed: Sargent 2000 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1054+2T>C r.spl? p.? - likely pathogenic g.30736735T>C g.30718618T>C - - GK_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 2 - c.1054+22G>T r.(=) p.(=) - VUS g.30736755G>T g.30718638G>T - - GK_010010 - - - - Germline - - - - - Yu Sun
-/. 1 14i c.1055+22G>T r.(?) p.(=) - benign g.30737558G>T - - - GK_000010 1 more item PubMed: Gaudet 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 15 c.1091G>A r.(?) p.(Cys364Tyr) - pathogenic (recessive) g.30737572G>A g.30719455G>A 1073G>A (C358Y) - GK_000023 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - Fnu4H- - - Johan den Dunnen
+/. 1 16 c.1212A>C r.1212a>c p.Glu404Asp - pathogenic (recessive) g.30738188A>C g.30720071A>C 1194A>C (E398D) - GK_000024 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - - - Johan den Dunnen
+/. 2 16 c.1225C>T r.(?) p.(Gln409*) - pathogenic (recessive) g.30738201C>T g.30720084C>T 1207C>T (Q403X) - GK_000015 - PubMed: Sargent 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1231C>T r.(?) p.(Arg411Ter) - pathogenic g.30738207C>T g.30720090C>T GK(NM_203391.3):c.1231C>T (p.R411*) - GK_010039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 16 c.1232G>A r.(?) p.(Arg411Gln) - pathogenic (recessive) g.30738208G>A g.30720091G>A 1214G>A (R405Q) - GK_000019 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1236+1G>A r.spl? p.? - VUS g.30738213G>A g.30720096G>A GK(NM_001205019.1):c.1236+1G>A - GK_010040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 17 c.1255C>T r.(?) p.(Arg419*) - pathogenic (recessive) g.30738756C>T g.30720639C>T C1351T (R413X) - GK_000005 - PubMed: Sjarif 1998, OMIM:var0005 - - Germline - - TaqI- - - Johan den Dunnen
?/. 1 - c.1288G>A r.(?) p.(Val430Ile) - VUS g.30738789G>A - GK(NM_001205019.1):c.1288G>A (p.V430I) - GK_010052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 17 c.1301T>C r.(?) p.(Met434Thr) - pathogenic (recessive) g.30738802T>C g.30720685T>C 1283T>C (M428T) - GK_000020 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.1331A>G r.(?) p.(Gln444Arg) - pathogenic (recessive) g.30738832A>G g.30720715A>G 1313A>G (Q438R) - GK_000021 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.1337A>T r.1337a>u p.Asp446Val - pathogenic (recessive) g.30738838A>T g.30720721A>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 r.(=) p.(=) - benign, VUS g.30738878T>C g.30720761T>C NM_000167.5:c.1339+20T>C - GK_000034, GK_010013 - from website {DBsub-Emory} - - Germline, Unknown - - - - - Yu Sun, Madhuri Hegde
-?/. 1 - c.1374C>T r.(?) p.(Pro458=) - likely benign g.30738985C>T - GK(NM_001205019.1):c.1374C>T (p.P458=) - GK_010051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1417G>A r.(?) p.(Glu473Lys) - likely benign g.30739028G>A - GK(NM_001205019.1):c.1417G>A (p.E473K) - GK_010053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1438C>T r.(?) p.(Leu480Phe) - VUS g.30739049C>T - GK(NM_000167.6):c.1420C>T (p.L474F) - GK_010054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 3 18i c.(1501+1_1502-1)_(1582+1_1583-1)del r.(?), r.1502_1582del p.Ser502_Gly528del - pathogenic (recessive) g.? - del Ex17 - GK_000002 5 Kb deletion; normal GK transcript levels, extra 4.7Kb transcript, 1 more item PubMed: Hellerud 2004, PubMed: Walker 1996, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/. 3 19 c.1525T>C r.(?) p.(Trp509Arg) - pathogenic (recessive) g.30742241T>C g.30724124T>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 r.(?) p.(Gly551Arg) - likely benign g.30745651G>A g.30727534G>A GK(NM_001205019.1):c.1651G>A (p.G551R) - GK_010045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.*340C>T r.(=) p.(=) - VUS g.30747199C>T g.30729082C>T - - GK_010001 - - - - Germline - - - - - Yu Sun
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