Full data view for 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.

103 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1_21 c.(?_-179)_(*1866_?)del pathogenic (recessive) r.0 p.0 Maternal (inferred) g.? - - - GK_000022 contiguous gene syndrome PubMed: Hellerud 2003 - - Germline - - - 0 - DNA SEQ - - GKD 12636049.Pat1 PubMed: Hellerud 2003 - M - Italy - - 0 - - 1 Johan den Dunnen
+/. - c.(?_-1)_(*1_?)del - r.0 p.0 Unknown g.(28606165_28771534)_(30746860_31140035)del - - - GK_010028 - PubMed: Carrie 1999 - - Unknown - - - 0 - DNA PCR - - AHC, GKD, ID - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - 1 Johan den Dunnen
+/. _1_21_ c.(?_-1)_(*1_?)del - r.0 p.0 Unknown g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004 - M - - - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.(?_-1)_(*1_?)del - r.0 p.0 Unknown g.(25034000_28807460)_(31645980_31676106)del - - - DMD_040078 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ -1-21_ c.(?_-1)_(*1_?)del - r.0? p.0? Maternal (confirmed) g.(30700000_30765000)_(31121918_31465000)del - - - DMD_040261 658 kb deletion incl. GKD_3'DMD L Medne ASHG 2010 A1669 - - Germline - - - 0 - DNA arrayCGH, arraySNP - - GKD - L Medne ASHG 2010 A1669 younger brother of A1669Pat5 M - - - - 0 - - 1 Johan den Dunnen
+/. - c.(?_-1)_(*1_?)del - r.0 p.0 Parent #1 g.(?_30322695)_(30746860_?)del - - - NR0B1_000002 large deletion, incl. GKD gene PubMed: Guo 1995 - - Germline - - - 0 - DNA SEQ - - AHC - PubMed: Guo 1995 - - - - - - 0 - - 1 Bert Bakker
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(28606165_29935580)_(33229674_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(30000000_30322000)_(33229674_?)del - - - DMD_040081 deletion incl. NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(30328000_30670000)_(33229674_?)del - - - DMD_040082 deletion incl. GK and DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(?_25020000)_(32235181_32305645)del - - - DMD_003417 deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown - - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(?_31138512)_(31893385_31947815)del g.(?_31120395)_(31875268_31929698)del c.(6912+1_6913-1)_*2691[0] - DMD_014879 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ _1_21_ c.0 - r.0 p.0 Unknown g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - 1 Johan den Dunnen
+/+ - c.0 - r.0 p.0 Parent #1 g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MRX;IDX - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+/+ - c.0 - r.0 p.0 Parent #1 g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline yes - - 0 - DNA MLPA - - AHC, GKD, MRX;IDX - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+/. _1_21_ c.0 pathogenic (recessive) r.0 p.0 Parent #1 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 - - 0 - DNA PCR, RT-PCR, SEQ - - AHC, DMD, GKD 10757639-Fam4482 PubMed: Jin 2000, PubMed: Greener 2002 2-generation family, 3 affected brothers (12y, 14y, 17y) M no United Kingdom (Great Britain) - - 0 - - 3 Johan den Dunnen
+/. _1_21_ c.0 pathogenic (recessive) r.0 p.0 Unknown g.(?_31138512)_(32867903_33038290)del g.(?_31120395)_(32849786_33020173)del c.(93+1_94-1)_(*2691_?)del - DMD_010379 - PubMed: Loke 2009, PubMed: Tomar 2019 - - Germline/De novo (untested) - - - 0 - DNA PCR - - AHC, DMD, GKD patient/Case 45 PubMed: Loke 2009, PubMed: Tomar 2019 - M no Singapore - - 0 - - 1 Poh San Lai
+/. 1_21 c.? pathogenic (recessive) r.(?) p.? Maternal (inferred) g.? - - - GK_000000 carries GPD2:[791A>G];[791A>G] (His264Arg) PubMed: Hellerud 2003 - - Germline - - - 0 - DNA SEQ - - GKD 12636049.Pat2 PubMed: Hellerud 2003 - F - Italy - - 0 - - 1 Johan den Dunnen
+/. 1_21 c.? pathogenic (recessive) r.(?) p.? Maternal (inferred) g.? - - - GK_000000 unknown variant PubMed: Sjarif 2004 - - Germline - - - 0 - DNA SEQ - - GKD 15026783-Pat4 PubMed: Sjarif 2004 - M - - - - 0 - - 1 Johan den Dunnen
./. - c.78+164G>C - r.(=) p.(=) Maternal (inferred) g.30671896G>C g.30653779G>C - - GK_010026 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.165G>A - r.(=) p.(=) Maternal (inferred) g.30686141G>A g.30668024G>A - - GK_010016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.165G>A - r.(=) p.(=) Maternal (inferred) g.30686141G>A g.30668024G>A - - GK_010016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. 3 c.165G>A benign r.(?) p.(=) Parent #1 g.30686141G>A - - - GK_000009 - PubMed: Gaudet 2000 - - Germline - - - 0 - DNA SEQ - - GKD 10736265.all PubMed: Gaudet 2000, OMIM:var0007 5 families, 15 affecteds, 14female carriers M - Canada French-Canadian - 0 - - 29 Johan den Dunnen
-/. 3 c.165G>A benign r.(?) p.(=) Maternal (confirmed) g.30686141G>A - - - GK_000009 - PubMed: Sargent 2000 - - Germline - - AvaII- 0 - DNA SSCA, SEQ - - GKD 10851254-Fam3.Pt6 PubMed: Sargent 2000 died after birth, carrier mother M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. 3 c.165G>A benign r.(?) p.(=) Maternal (confirmed) g.30686141G>A - - - GK_000009 - PubMed: Sargent 2000 - - Germline - 4/40 AvaII- 0 - DNA SSCA, SEQ - - Healthy/Control 10851254-con PubMed: Sargent 2000 - - - United Kingdom (Great Britain) - - 0 - - 4 Johan den Dunnen
-?/. 3 c.165G>A likely benign r.(?) p.(=) Parent #1 g.30686141G>A - Q55Q - GK_000009 recurrent, found 22 times; for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - - Germline - - - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - - - - - >61y 0 - - 22 Johan den Dunnen
+/. 3 c.182T>C pathogenic (recessive) r.182u>c p.Leu61Pro Maternal (confirmed) g.30686158T>C - - - GK_000025 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - 0 - DNA SEQ - - GKD 15026783-Pat2 PubMed: Sjarif 2004 carrier mother M - - - - 0 - - 2 Johan den Dunnen
+/. 3i c.259+1G>A pathogenic (recessive) r.153_259del p.Trp52Tyrfs*29 Maternal (inferred) g.30686236G>A - IVS3+1G>A - GK_000026 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Zhang 2006 - M - United States - - 0 - - 1 Johan den Dunnen
-/. - c.259+1354G>A benign r.(=) p.(=) Unknown g.30687589G>A - GK(NM_000167.5):c.259+1354G>A (p.?) - GK_010041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.259+2254G>A pathogenic (recessive) r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467] p.[Ala87Valfs*3, Trp52Tyrfs*24] Maternal (inferred) g.30688489G>A - - - GK_000012 - PubMed: Sargent 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - GKD 10851254-Pt4 PubMed: Sargent 2000 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3i c.259+2254G>A pathogenic (recessive) r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467] p.[Ala87Valfs*3, Trp52Tyrfs*24] Maternal (inferred) g.30688489G>A - - - GK_000012 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - 0 - DNA SEQ - - GKD 15026783-Pat3 PubMed: Sjarif 2004 - M - - - 5d 0 - - 1 Johan den Dunnen
+/. 4 c.287C>T pathogenic (recessive) r.(?) p.(Thr96Ile) Maternal (inferred) g.30695519C>T - - - GK_000027 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - - 0 - DNA SEQ - - GKD 12636049.Pat3 PubMed: Hellerud 2003 - M - Italy - >64y 0 - - 1 Johan den Dunnen
./. - c.337+385dup - r.(=) p.(=) Maternal (inferred) g.30695954dup g.30677837dup - - GK_010019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. 4i c.338-43_338-42ins316; 338-52_338-43dup likely pathogenic (recessive) r.[=, 338_414del] p.[=, Trp114Glnfs*7] Parent #1 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 - - - 0 - DNA, RNA RT-PCR, SEQ - - GKD - PubMed: Zhang 2000, PubMed: Zhang 2006, OMIM:var0007 - M - United States African-American - 0 - - 1 Johan den Dunnen
+/. 4i c.338-1G>A pathogenic (recessive) r.338_414del p.Trp114Glnfs*7 Maternal (inferred) g.30709239G>A - IVS4-1G>A - GK_000028 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - GKD - PubMed: Zhang 2006 - M - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.367G>A likely benign r.(?) p.(Val123Ile) Unknown g.30709269G>A - GK(NM_001205019.1):c.367G>A (p.V123I) - GK_010042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.552+142G>C - r.(=) p.(=) Maternal (inferred) g.30712796G>C g.30694679G>C - - GK_010020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.552+142G>C - r.(=) p.(=) Maternal (inferred) g.30712796G>C g.30694679G>C - - GK_010020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.553-102C>T - r.(=) p.(=) Maternal (inferred) g.30714057C>T g.30695940C>T - - GK_010023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.553-102C>T - r.(=) p.(=) Maternal (inferred) g.30714057C>T g.30695940C>T - - GK_010023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 7 c.553-1G>C pathogenic (recessive) r.553_554del p.Ser184Phefs*17 Maternal (inferred) g.30714158G>C - IVS6-1G>C - GK_000001 strongly reduced levels all 3 GK-transcricpts PubMed: Walker 1996, OMIM:var0001 - - Germline - - - 0 - DNA Southern, SEQ - - GKD 08651297.1 PubMed: Walker 1996, OMIM:var0001 - M - Belgium - >7y 0 - - 1 Johan den Dunnen
+/. 7 c.593A>G pathogenic (recessive) r.(?) p.(Asp198Gly) Maternal (inferred) g.30714199A>G - 593A>G (D198G) - GK_000017 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - 0 - DNA SEQ - - GKD - PubMed: Dipple 2001 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 7 c.601A>G pathogenic (recessive) r.(?) p.(Asn201Asp) Maternal (confirmed) g.30714207A>G - 601A>G (D201N) - GK_000029 - PubMed: Hellerud 2004 - - Germline - - - 0 - DNA SEQ - - GKD 15303806-Pat2 PubMed: Hellerud 2004 3-generation family, 3 affecteds, 3 female carriers M - Sweden - - 0 - - 6 Johan den Dunnen
-?/. - c.661G>A likely benign r.(?) p.(Glu221Lys) Unknown g.30714267G>A - GK(NM_001205019.1):c.661G>A (p.E221K) - GK_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.729+8_729+9insACAA likely benign r.(=) p.(=) Unknown g.30714808_30714809insACAA - GK(NM_000167.5):c.729+5_729+6insAAAC (p.?) - GK_010043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8i c.729+17C>A benign r.(?) p.(=) Maternal (confirmed) g.30714817C>A - IVS8+17C>A - GK_000030 - PubMed: Sargent 2000 - - Germline - - - 0 - DNA SSCA, SEQ - - GKD 10851254-Fam3.Pt6 PubMed: Sargent 2000 died after birth, carrier mother M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.729+21_729+24dup likely benign - - Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.730-252T>C - r.(=) p.(=) Maternal (inferred) g.30715597T>C g.30697480T>C - - GK_010025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.730-22C>T - r.(=) p.(=) Maternal (inferred) g.30715827C>T g.30697710C>T - - GK_010004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.730-22C>T - r.(=) p.(=) Maternal (inferred) g.30715827C>T g.30697710C>T - - GK_010004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.745G>A VUS r.(?) p.(Val249Met) Unknown g.30715864G>A - GK(NM_001205019.1):c.745G>A (p.(Val249Met)) - GK_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.748-9T>C likely benign r.(=) p.(=) Unknown g.30718522T>C - GK(NM_001205019.1):c.748-9T>C - GK_010037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.748-5A>T likely benign r.spl? p.? Unknown g.30718526A>T - GK(NM_000167.5):c.730-5A>T (p.?) - GK_010038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.748-5A>T benign r.spl? p.? Unknown g.30718526A>T - GK(NM_000167.5):c.730-5A>T (p.?) - GK_010038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.784-79_784-78insAAAT - r.(=) p.(=) Maternal (inferred) g.30718876_30718877insAAAT g.30700759_30700760insAAAT - - GK_010027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.784-79_784-78insAAAT - r.(=) p.(=) Maternal (inferred) g.30718876_30718877insAAAT g.30700759_30700760insAAAT - - GK_010027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.784-75_784-74insAAAT - r.(=) p.(=) Maternal (inferred) g.30718880_30718881insAAAT g.30700763_30700764insAAAT - - GK_010007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.784-75_784-74insAAAT - r.(=) p.(=) Maternal (inferred) g.30718880_30718881insAAAT g.30700763_30700764insAAAT - - GK_010007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 11 c.784T>C pathogenic (recessive) r.784u>c p.262CysArg Maternal (inferred) g.30718955T>C - 766T>C (C256R) - GK_000013 not in 40 normal chromosomes PubMed: Sargent 2000 - - Germline - - TspRI- 0 - DNA, RNA RT-PCR, SEQ - - GKD 10851254-Pt5 PubMed: Sargent 2000 3-generation family, 3 affecteds, 3 carrier females; asymptomatic grandfather (II.1) and great uncle (III.3) M - United Kingdom (Great Britain) - - 0 - - 6 Johan den Dunnen
+/. 11 c.851C>T - r.(spl?) p.(Thr284Met) Maternal (confirmed) g.30719022C>T g.30700905C>T 833C>T (Thr278Met) - GK_010033 - PubMed: Romero 1997 - - Germline yes - - 0 - DNA SEQ - - GKD - PubMed: Romero 1997, UMD 450 database 3-generation family; carrier mother M no France - - 0 - - 1 Johan den Dunnen
+?/. - c.851C>T likely pathogenic r.(?) p.(Thr284Met) Unknown g.30719022C>T - GK(NM_000167.5):c.833C>T (p.T278M) - GK_010033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.851+334A>G - r.(=) p.(=) Maternal (inferred) g.30719356A>G g.30701239A>G - - GK_010009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 11i c.852-1G>A pathogenic (recessive) r.spl p.? Maternal (inferred) g.30725672G>A - IVS9A-1G>A - GK_000031 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - - 0 - DNA SEQ - - GKD 12636049.Pat5 PubMed: Hellerud 2003 brother of 12636049.Pat6 M - Italy - >61y 0 - - 1 Johan den Dunnen
+/. 11i c.852-1G>A pathogenic (recessive) r.spl p.? Maternal (inferred) g.30725672G>A - IVS9A-1G>A - GK_000031 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - - 0 - DNA SEQ - - GKD 12636049.Pat6 PubMed: Hellerud 2003 brother of 12636049.Pat5 M - Italy - >58y 0 - - 1 Johan den Dunnen
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.? Maternal (confirmed) g.? - del Ex9-end - GK_000004 - PubMed: Sjarif 1998, OMIM:var0004 - - Germline - - - 0 - DNA PCR - - GKD 09719371-1.III.1 PubMed: Sjarif 1998, OMIM:var0004 3-generation family, 4 affecteds, 4 female carriers M - Netherlands - - 0 - - 5 Johan den Dunnen
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.? Maternal (confirmed) g.? - del Ex9-end - GK_000004 - PubMed: Sjarif 1998, OMIM:var0004 - - Germline - - - 0 - DNA PCR - - GKD 09719371-1.III.3 PubMed: Sjarif 1998, OMIM:var0004 - M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.? Maternal (confirmed) g.? - del Ex9-end - GK_000004 - PubMed: Sjarif 1998, OMIM:var0004 - - Germline - - - 0 - DNA PCR - - GKD 09719371-1.III.4 PubMed: Sjarif 1998, OMIM:var0004 nephew of 09719371-1.III.1 M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 11i c.(851+1_852-1)_(*1866_?)del pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del Ex9-end - GK_000004 - PubMed: Sjarif 1998, OMIM:var0004 - - Germline - - - 0 - DNA PCR - - GKD 09719371-1.I.1 PubMed: Sjarif 1998, OMIM:var0004 maternal grandfather 09719371-1.III.1 M - Netherlands - >62y 0 - - 1 Johan den Dunnen
+/. 12 c.857G>C pathogenic (recessive) r.(?) p.(Gly286Ala) Maternal (inferred) g.30725678G>C - Gly280Ala - GK_000011 - PubMed: Wibmer 2005 - - Germline - - - 0 - DNA SEQ - - ? 16025401-Pat1 PubMed: Wibmer 2005 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 12 c.880A>G pathogenic (recessive) r.(?) p.(Asn294Asp) Maternal (confirmed) g.30725701A>G - N288D - GK_000008 shared haplotype DXS8039-DXS997 PubMed: Gaudet 2000, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - GKD 10736265.all PubMed: Gaudet 2000, OMIM:var0007 5 families, 15 affecteds, 14female carriers M - Canada French-Canadian - 0 - - 29 Johan den Dunnen
+/. 12 c.880A>G pathogenic (recessive) r.(?) p.(Asn294Asp) Maternal (inferred) g.30725701A>G - 862A>G (N288D) - GK_000008 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Dipple 2001 - M - Canada French-Canadian - 0 - - 1 Johan den Dunnen
+/. 12i c.894+1G>T pathogenic (recessive) r.852_894del p.Tyr845Valfs*30 Maternal (inferred) g.30725716G>T - IVS10+1G>T - GK_000032 nonsense mediated mRNA decay PubMed: Zhang 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Zhang 2006 - M - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.895-7C>T likely benign r.(=) p.(=) Unknown g.30726164C>T - GK(NM_000167.5):c.877-7C>T (p.(=)) - GK_010044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.932C>T pathogenic (recessive) r.(?) p.(Ala311Val) Maternal (inferred) g.30726208C>T - 914C>T (A305V) - GK_000018 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Dipple 2001 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 13 c.946A>T pathogenic (recessive) r.(?) p.(Arg316*) Maternal (inferred) g.30726222A>T - 1042T>A (R310X) - GK_000014 - PubMed: Sargent 2000 - - Germline - - - 0 - DNA SSCA, SEQ - - GKD 10851254-Pt3 PubMed: Sargent 2000 asymptomatic M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
./. - c.1054+22G>T - r.(=) p.(=) Maternal (inferred) g.30736755G>T g.30718638G>T - - GK_010010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.1054+22G>T - r.(=) p.(=) Maternal (inferred) g.30736755G>T g.30718638G>T - - GK_010010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. 14i c.1055+22G>T benign r.(?) p.(=) Parent #1 g.30737558G>T - - - GK_000010 - PubMed: Gaudet 2000 - - Germline - - - 0 - DNA SEQ - - GKD 10736265.all PubMed: Gaudet 2000, OMIM:var0007 5 families, 15 affecteds, 14female carriers M - Canada French-Canadian - 0 - - 29 Johan den Dunnen
+/. 15 c.1091G>A pathogenic (recessive) r.(?) p.(Cys364Tyr) Maternal (inferred) g.30737572G>A - 1073G>A (C358Y) - GK_000023 not in100 normal chromosomes PubMed: Hellerud 2003 - - Germline - - Fnu4H- 0 - DNA SEQ - - GKD 12636049.Pat4 PubMed: Hellerud 2003 - M - Italy - >11y 0 - - 1 Johan den Dunnen
+/. 16 c.1212A>C pathogenic (recessive) r.1212a>c p.Glu404Asp Maternal (confirmed) g.30738188A>C - 1194A>C (E398D) - GK_000024 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - 0 - DNA SEQ - - GKD 15026783-Pat1 PubMed: Sjarif 2004 carrier mother M - - - - 0 - - 2 Johan den Dunnen
+/. 16 c.1225C>T pathogenic (recessive) r.(?) p.(Gln409*) Maternal (inferred) g.30738201C>T - 1207C>T (Q403X) - GK_000015 - PubMed: Sargent 2000 - - Germline - - - 0 - DNA SSCA, SEQ - - GKD 10851254-Fam1.Pt1 PubMed: Sargent 2000 non-identical twin brother of 10851254-Fam1.Pt2 M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 16 c.1225C>T pathogenic (recessive) r.(?) p.(Gln409*) Maternal (inferred) g.30738201C>T - 1207C>T (Q403X) - GK_000015 - PubMed: Sargent 2000 - - Germline - - - 0 - DNA SSCA, SEQ - - ? 10851254-Fam1.Pt2 PubMed: Sargent 2000 asymptomatic non-identical twin brother of 10851254-Fam1.Pt1 M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.1231C>T pathogenic r.(?) p.(Arg411*) Unknown g.30738207C>T - GK(NM_203391.3):c.1231C>T (p.R411*) - GK_010039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1232G>A pathogenic (recessive) r.(?) p.(Arg411Gln) Maternal (inferred) g.30738208G>A - 1214G>A (R405Q) - GK_000019 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - 0 - DNA SEQ - - GKD - PubMed: Dipple 2001 - M - United States - - 0 - - 1 Johan den Dunnen
?/. - c.1236+1G>A VUS r.spl? p.? Unknown g.30738213G>A - GK(NM_001205019.1):c.1236+1G>A - GK_010040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 17 c.1255C>T pathogenic (recessive) r.(?) p.(Arg419*) Maternal (confirmed) g.30738756C>T - C1351T (R413X) - GK_000005 - PubMed: Sjarif 1998, OMIM:var0005 - - Germline - - TaqI- 0 - DNA PCR, SEQ - - GKD 09719371-2.II.3 PubMed: Sjarif 1998, OMIM:var0005 carrier mother M - Netherlands - >8y 0 - - 1 Johan den Dunnen
+/. 17 c.1301T>C pathogenic (recessive) r.(?) p.(Met434Thr) Maternal (inferred) g.30738802T>C - 1283T>C (M428T) - GK_000020 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Dipple 2001 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 17 c.1331A>G pathogenic (recessive) r.(?) p.(Gln444Arg) Maternal (inferred) g.30738832A>G - 1313A>G (Q438R) - GK_000021 not in >100 normal chromosomes PubMed: Dipple 2001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Dipple 2001 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 17 c.1337A>T pathogenic (recessive) r.1337a>u p.Asp446Val Maternal (confirmed) g.30738838A>T - D440V - GK_000003 reduced GK-transcripts; not in 100 control chromosomes PubMed: Walker 1996, OMIM:var0003 - - Germline - - - 0 - DNA Southern, SEQ - - GKD 08651297.4 PubMed: Walker 1996, OMIM:var0003 carrier mother M - Yugoslavia - - 0 - - 1 Johan den Dunnen
./. - c.1357+20T>C - r.(=) p.(=) Maternal (inferred) g.30738878T>C g.30720761T>C - - GK_010013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.1357+20T>C - r.(=) p.(=) Maternal (inferred) g.30738878T>C g.30720761T>C - - GK_010013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. 17i c.1357+20T>C benign r.? p.? Unknown g.30738878T>C - NM_000167.5:c.1339+20T>C - GK_000034 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.1502_1582del p.Ser502_Gly528del Maternal (confirmed) g.? - del Ex17 - GK_000002 5 Kb deletion; reduced GK-transcripts, extra 4.7Kb transcript PubMed: Walker 1996, OMIM:var0002 - - Germline - - - 0 - DNA Southern, SEQ - - GKD 08651297.2 PubMed: Walker 1996, OMIM:var0002 brother of 08651297.3, carrier morther M - Sweden;Finland - - 0 - - 2 Johan den Dunnen
+/. 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.1502_1582del p.Ser502_Gly528del Maternal (confirmed) g.? - del Ex17 - GK_000002 5 Kb deletion; normal GK transcript levels, extra 4.7Kb transcript PubMed: Walker 1996, OMIM:var0002 - - Germline - - - 0 - DNA Southern, SEQ - - GKD 08651297.3 PubMed: Walker 1996, OMIM:var0002 brother of 08651297.2, carrier mother M - Sweden;Finland - - 0 - - 1 Johan den Dunnen
+/. 18i c.(1501+1_1502-1)_(1582+1_1583-1)del pathogenic (recessive) r.(?) p.Ser502_Gly528del Maternal (inferred) g.? - del Ex17 - GK_000002 - PubMed: Hellerud 2004 - - Germline - - - 0 - DNA SEQ - - GKD 15303806-Pat1 PubMed: Hellerud 2004 - M - Sweden - >31y 0 - - 1 Johan den Dunnen
+/. 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg) Maternal (confirmed) g.30742241T>C - T1651C (W503R) - GK_000006 not in 100 control chromosomes PubMed: Sjarif 1998, OMIM:var0006 - rs2893548 Germline - - NlaIII- 0 - DNA PCR, SEQ - - GKD 09719371-3.II.3 PubMed: Sjarif 1998, OMIM:var0006 carrier mother M - Indonesia - >1y6m 0 - - 1 Johan den Dunnen
+/. 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg) Maternal (confirmed) g.30742241T>C - T1651C (W503R) - GK_000006 not in 100 control chromosomes PubMed: Sjarif 1998, OMIM:var0006 - rs2893548 Germline - - NlaIII- 0 - DNA PCR, SEQ - - GKD 09719371-3.II.2 PubMed: Sjarif 1998, OMIM:var0006 brother of 09719371-3.II.3, carrier mother M - Indonesia - >3y6m 0 - - 1 Johan den Dunnen
+/. 19 c.1525T>C pathogenic (recessive) r.(?) p.(Trp509Arg) Maternal (confirmed) g.30742241T>C - T1651C (W503R) - GK_000006 not in 100 control chromosomes PubMed: Sjarif 1998, OMIM:var0006 - rs2893548 Germline - - NlaIII- 0 - DNA PCR, SEQ - - GKD 09719371-3.II.1 PubMed: Sjarif 1998, OMIM:var0006 half brother of 09719371-3.II.3, carrier mother M - Indonesia - >8y 0 - - 1 Johan den Dunnen
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