Gene Symbol CLN2/TPP1
Gene ID 1200
Chromosomal Location 11p15
Genomic RefSeqGene NG_008653.1 13696 bp
Transcript RefSeq NM_000391.3 3540 bp
Protein RefSeq NP_000382.3 563 aa
No. of mutations 111
No. of sequence variations 24
No. of changes 135
Additional notes
Identifier Location Nucleotide change Amino acid change Type of Mutation Predicted functional effect Phenotype Histology No. of families Country of origin PMID Reference Patients Notes
cln2.097 5' region c.1-319T>C Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 1089T>C
cln2.098 5' region c.1-231G>A Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 177G>A
cln2.099 5' region c.1-203T>C Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 1205T>C
cln2.100 5' region c.1-184G>A Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 1224G>A
cln2.084 Intron 1 c.17+1G>C splice defect Missense vLINCL 1 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln2.166
cln2.084 Intron 1 c.17+1G>C splice defect Missense vLINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 (Milą personal communication) Pa-cln2.178
cln2.101 Intron 1 c.18-3C>G splice defect Missense 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.257
cln2.102 Exon 2 c.37dupC p.Leu13ProfsX32 1-bp insertion 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.232
cln2.032 Intron 2 c.90-44C>T Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 1767C>T
cln2.032 Intron 2 c.90-44C>T Sequence variant 1 Italy 10862088 Tessa et a., Hum Mut; 2000 Pa-cln2.086
cln2.123 Intron 2 c.89+4A>G splice defect Missense LINCL 1 Argentina 19793312 Kohan et al, Clin Genet, 2009,        Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005 Pa-cln2.310
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Sequence variant 3 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.235, 236, 256
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Sequence variant 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.272
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Sequence variant n.a. Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.273
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Sequence variant 2 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.357, 358
cln2.010 Exon 3 c.196C>T p.Gln66X Nonsense 1 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.013
cln2.010 Exon 3 c.196C>T p.Gln66X Nonsense 5 Argentina 19793312   23266810  Kohan et al, Clin Genet, 2009, Kohan et al., 2013, Gene 516:114-21 Pa-cln2.168-170, Pa-cln2.310, Pa-cln2.349, 350, 351 Also Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005
cln2.010 Exon 3 c.196C>T p.Gln66X Nonsense 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.274
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Splice site 1 Spanish/French/English/ Irish/American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.014
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Splice site n.a. The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.275
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Splice site 1 The Netherlands 23418007 Sun et al., Hum Mutat, 2013 Pa-cln2.335-336
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Splice site 1 Romania 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.258
cln2.012 Exon 3 c.229G>A p.Gly77Arg Missense Probably damaging 1 Irish/American Indian-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.015
cln2.012 Exon 3 c.229G>A p.Gly77Arg Missense Probably damaging 3 Italy 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.200-202
cln2.059 Exon 3 c.184_185delTC p.Ser62GlyfsX25 2-bp deletion LINCL 1 China 11241479 Lam et al.,Am J Med Genet, 2001 Pa-cln2.088
cln2.103 Exon 3 c.184T>A p.Ser62Thr Missense Benign 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.237
cln2.013 Exon 4 c.377_387delTCCGACAAGCA p.Ile126ArgfsX8 11-bp deletion 1 German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.018
cln2.013 Exon 4 c.377_387delTCCGACAAGCA p.Ile126ArgfsX8 11-bp deletion 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.019
cln2.014 Exon 4 c.379C>T p.Arg127X Nonsense 1 Mexico 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.020
cln2.014 Exon 4 c.379C>T p.Arg127X Nonsense 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.256
cln2.033 Exon 4 c.299A>G p.Gln100Arg Sequence variant 2 Romany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.016-017 originally described as 3004A>G
cln2.033 Exon 4 c.299A>G p.Gln100Arg Sequence variant 1 Italy 10862088 Tessa et al., Hum Mutat, 2000 Pa-cln2.085
cln2.033 Exon 4 c.299A>G p.Gln100Arg Sequence variant 1 Canada 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.271
cln2.051 Exon 4 c.357dupT p.Leu120SerfsX18 1-bp insertion 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.080
cln2.052 Exon 4 c.380G>A p.Arg127Gln Missense Benign 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.081
cln2.052 Exon 4 c.380G>A p.Arg127Gln Missense Benign 1 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.110
cln2.052 Exon 4 c.380G>A p.Arg127Gln Missense Benign 1 Canada 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.276
cln2.052 Exon 4 c.380G>A p.Arg127Gln Missense Benign 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.238-240
cln2.083 Exon 4 c.311T>A p.Leu104X Nonsense LINCL 3 Argentina 20960655               19793312 23266810 Kohan et al., Human Genet, 2008,   Kohan et al Clin Genet, 2009, Kohan et al., 2013, Gene 516:114-21 Pa-cln2.134, Pa-cln2.174, Pa-cln2.340, 342
cln2.083 Exon 4 c.311T>A p.Leu104X Nonsense LINCL 1 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.154
cln2.087 Exon 4 c.237C>G p.Tyr79X Nonsense LINCL 1 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.184
cln2.050 Intron 4 c.380+55G>A Sequence variant 1 Turkey 11589012 Mole et al.,Eur J Pediatr Neurol.,2001 (Taschner pers comm) Pa-cln2.302
cln2.061 Intron 4 c.381-6C>T Sequence variant n.a. n.a. 21990111 Kousi et al., Hum Mut; 2012
cln2.104 Intron 4 c.381-2A>G splice defect Intron change 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.075
cln2.105 Intron 4 c.381-1G>C splice defect Intron change 1 Canada 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.270
cln2.043 Exon 5 c.457T>C p.Ser153Pro Missense Probably damaging vJNCL 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.297
cln2.106 Exon 5 c.497dupA p.His166GlnfsX22 1-bp insertion 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.241
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Spanish/French/English/ Irish/American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.014 originally described as g.3556G>C
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Irish/American Indian-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.015
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 3 England / Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.021, Pa-cln2.-038, Pa-cln2.043
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 England / Dutch 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.022
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 2 German / English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.023-024
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 England / Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.025
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Swedish-English-Irish/Scottish-Irish-Norwegian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.026
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 14 Germany 10330339              12376936 Sleat et al., Am J Hum Genet; 1999, Steinfeld et al., Am J Med Genet, 2002 Pa-cln2.027, Pa-cln2.089, 093, 095-100, 103-107
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Scotland-Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.028
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 England-Ireland / England-Sweden 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.029
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 English-Irish / German-Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.030
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.031
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 9 Canada 10330339       12414822         21990111 Sleat et al., Am J Hum Genet; 1999, Ju et al., J Med Genet., 2002, Kousi et al, Hum Mutat, 2012 Pa-cln2.032, Pa-cln2.111-116, 267-268
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 England / Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.033
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Germany / Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.034
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 German-Czech/Canadian-North American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.035
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 2 Denmark 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.036, Pa-cln2.048
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Northern Europe 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.037
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 2 England-Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.039, Pa-cln2.042
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 England-Ireland-American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.040
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 French-Irish-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.041
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 France / Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.044
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Finnish-Swedish-Norwegian/English-Scottish 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.045
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 2 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.046-047
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 French-German-Irish-Scottish-English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.049
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Czech-Ukranian-Welsh 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.050
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 14 USA  11339651            9788728 Zhong et al., 1998a, Zhong et al., 2000 Pa-cln2.002-003, 005--111, Pa-cln2.077-081
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.294
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Scotland-Ireland-England 10356316 Hartikainen et al., Mol Genet Metab;1999 Pa-cln2.073
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 European / Native American 10665500 Berry-Kravis et al., Ann Neurol, 2000 Pa-cln2.083
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 6 Netherlands ashg.org/genetics/abstracts/abs99/f1307.htm Franken et al., Hum Genet 65 suppl A232,1999    Pa-cln2.302-307
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 4 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.150-153
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Ireland 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.277
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.186
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Slovakia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.198
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 25 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.203-204, 206, 207-208, 209-213, 215-218, 220-227, 231-232, 235
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Serbia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.246
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 11 The Netherlands 21990111 Kousi et al., Hum Mut; 2012; Sun et al Hum Mutat 2013 Pa-cln2.247, 255, 318-324, 326-327, 329, 333-334
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 2 Sweden 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.248, 262
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 South Africa 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.249
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Belgium 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.250
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 South Africa / The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.251
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.258
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.254
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Slavic, Irish, German 21940688 Minh et al 2012  J Child Neurol 27:234-7 Pa-cln2.317
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Intron change 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.347
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171ThrfsX5 Intron change 1 England / Scotland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.021
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171ThrfsX5 Intron change 1 England / Dutch 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.022
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171ThrfsX5 Intron change 1 German / English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.023
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171ThrfsX5 Intron change 1 Scotland-Ireland-England 10356316 Hartikainen et al., Mol Genet Metab;1999 Pa-cln2.173
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171ThrfsX5 Intron change 1 Lebanon 10356316 Hartikainen et al., Mol Genet Metab;1999 Pa-cln2.174
cln2.034 Intron 5 c.508+26T>A Sequence variant     10330339 Sleat et al., Am J Hum Genet; 1999   originally described as 3436A>T
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 17 Germany 10330339   12376936 Sleat et al., Am J Hum Genet; 1999, Steinfeld et al., Am J Med Genet, 2002 Pa-cln2.018, Pa-cln2.089-092, 094-104, 110
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 2 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.019, Pa-cln2.062
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 3 Mexico 10330339     9788728 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.020, Pa-cln2.059
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 2 England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.031, Pa-cln2.050
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 5 Canada 10330339     12414822      21990111 Sleat et al., Am J Hum Genet; 1999, Ju et al., J Med Genet., 2002, ?? Pa-cln2.032, Pa-cln2.116-119
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 4 Canada 21990111 Kousi et al., Hum Mut; 2012 263, 267-269
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 England / Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.033
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Germany / Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.034
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 German-Czech/Canadian-North American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.035
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Denmark 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.036
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Northern Europe 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.037
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 England / Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.038
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 2 England-Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.039, Pa-cln2.042
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 England-Ireland-American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.040
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 French-Irish-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.041
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Poland/Sweden-France-Bohemian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.052
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Poland-Germany/Norway 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.053
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Poland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.054
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Norway-Germany-Poland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.055
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 2 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.056
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense       1 Italy 11071145 Simonati et al., Neuropediatrics, 2000 Pa-cln2.082
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 England-Germany/Hungary-Poland-Russia 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.057
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Poland-Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.058
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 England / Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.060
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense (JNCL) 1 Germany-Ireland-Poland-England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.061
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 7 USA  11339651      9788728 Zhong et al., 1998a, Zhong et al., 2000 Pa-cln2.004-007, 012, Pa-cln2.075, 076
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet; 1999 Pa-cln2.295
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 European / Native American 10665500 Berry-Kravis et al., Ann Neurol, 2000 Pa-cln2.083
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 3 Russia 12363103 Lavrov et al., Eur J Paed Neurol; 2002 Pa-cln2.131-133
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.279
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Czech Republic 18283468 Elleder et al., Acta Neuropathol, 2008 Pa-cln2.165
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 6 Argentina 19793312 Kohan et al., Clin Genet, 2009 Pa-cln2.171, Pa-cln2.237, 344, 346, 359, 360
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 2 Portugal 12796825 Teixeira et al.,J Neurol, 2003 Pa-cln2.134-135
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 3 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.155-157, 160, 161
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Portugal 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.182
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 5 Slovakia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.183, 185, 187, 188, 198
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 7 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.184, 189, 190, 191, 193, 195, 196
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Brazil 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.192
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Hungary 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.197
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 5 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.199, 241, 242, 243, 259
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 9 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.205, 206, 214, 219, 225, 229, 231, 233, 234
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 South Africa / The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.251
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Sweden 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.252
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 6 Netherlands 21990111 Kousi et al., Hum Mut; 2012; Sun et al Hum Mutat 2013 Pa-cln2.253, 260, 329, 331, 333, 334, 355-336
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Hungary 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.261
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 China 22245569 Chang et al., 2012, Brain Dev Pa-cln2.314
cln2.001 Exon 6 c.622C>T p.Arg208X Nonsense 1 Slavic, Irish, German 21940688 Minh et al, 2012,  J Child Neurol 27:234-7 Pa-cln2.317
cln2.005 Exon 6 c.524G>A p.Arg175His Sequence variant 19 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.089-107, 109-110 19/20
cln2.005 Exon 6 c.524G>A p.Arg175His Sequence variant n.a. USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.308-309
cln2.041 Exon 6 c.616C>T p.Arg206Cys Missense Probably damaging 1 Turkey 10665500 Berry-Kravis et al., Ann Neurol, 2000 Pa-cln2.084
cln2.049 Exon 6 c.605C>T p.Pro202Leu Missense Probably damaging 1 African 11589012 Mole et al.,Eur J Pediatr Neurol.,2001 (Logan pers comm) Pa-cln2.301
cln2.075 Exon 6 c.646G>A p.Val216Met Missense Probably damaging 1 China 20820830 Wang et al, 2011, Neurogenetics epub 7 Sept Pa-cln2.177
cln2.075 Exon 6 c.646G>A p.Val216Met Missense Probably damaging 1 USA 21990111 Kousi et al., Hum Mut; 2012 (Xin pers comm to NCL Mutation database) Pa-cln2.280 g.3694G>A
cln2.091 Exon 6 c.617G>A p.Arg206His Missense Probably damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.278
cln2.107 Exon 6 c.625T>C p.Tyr209His Missense Probably damaging 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.228
cln2.108 Exon 6 c.640C>T p.Gln214X Nonsense 1 Italy 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.200
cln2.108 Exon 6 c.640C>T p.Gln214X Nonsense none 2 China 22245569 Chang et al, 2012; Brain Dev Pa-cln2.314, Pa-cln2.315
cln2.035 Intron 6 c.687+32T>C Sequence variant 10330339   19793310 Sleat et al., Am J Hum Genet; 1999, Kohan et al., 2009 Pa-cln2.174 originally described as 3767T>C
cln2.070 Intron 6 c.688-10C>T Sequence variant 12414822 Ju et al., J Med Genet., 2002
cln2.015 Exon 7 c.860T>A p.Ile287Asn Missense Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.063
cln2.054 Exon 7 c.851G>T p.Gly284Val Missense Probably damaging 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.079
cln2.054 Exon 7 c.851G>T p.Gly284Val Missense Probably damaging 12 Canada  12414822        21990111 Kousi et al., Hum Mut; 2012, Ju et al., J Med Genet., 2002 Pa-cln2.114, Pa-cln2.118-127, 270
cln2.054 Exon 7 c.851G>T p.Gly284Val Missense Probably damaging 10 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.144-145, 146-149, 155-157, 158, 159, 162-163
cln2.062 Exon 7 c.713C>G p.Ser238X Nonsense 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.281
cln2.063 Exon 7 c.857A>G p.Asn286Ser Missense Possibly damaging LINCL 2 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.108-109
cln2.067 Exon 7 c.829G>A p.Val277Met Missense Probably damaging LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.128
cln2.068 Exon 7 c.833A>C p.Gln278Pro Missense Probably damaging LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.129
cln2.069 Exon 7 ? uncharacterised 1-bp deletion 1-bp deletion LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.125
cln2.074 Exon 7 c.797G>A p.Arg266Gln Missense Benign LINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 (Milą personal communication) Pa-cln2.179
cln2.081 Exon 7 c.775delC p.Arg259ValfsX17 1-bp deletion LINCL 1 Israel-Arab 19748052 Goldberg-Stern et al., Paed Neurol; 2009 Pa-cln2.175-176
cln2.089 Exon 7 c.827A>T p.Asp276Val Missense Probably damaging 14 Argentina 23266810 Kohan et al., Clin Genet, 2009; Kohan et al., 2013, Gene 516:114-21 Pa-cln2.171-173, Pa-cln2.337, 338, 339, 340, 341, 343, 344, 345, 347, 352, 354
cln2.092 Exon 7 c.843G>T p.Met281Ile Missense Possibly damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.311
cln2.109 Exon 7 c.790C>T p.Gln264X Nonsense 1 Italy 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.201
cln2.110 Exon 7 c.822_837del p.Leu275X Nonsense 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.257
cln2.134 Exon 7 c.824T>C p.Leu275Pro Missense LINCL 1 China 23768618 Shen et al. 2013 Reprod BioMed Online Pa-cln2.363
cln2.016 Intron 7 c.887-18A>G splice defect / Frameshift; p.Gly296delinsGlyLysLysLysAsnProGly Intron change 1 England / Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.043
cln2.071 Intron 7 c.886+17T>C Sequence variant 12414822 Ju et al., J Med Genet., 2002
cln2.072 Intron 7 c.886+41G>C Sequence variant 12414822 Ju et al., J Med Genet., 2002
cln2.079 Intron 7 c.887-10A>G p.Gly296delinsGluAsnProGly Intron change vJNCL 6 Argentina 23266810 Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005 Pa-cln2.168-170, Pa-cln2.349, 350, 351, 353, 354
cln2.079 Intron 7 c.887-10A>G p.Gly296delinsGluAsnProGly Intron change JNCL 1 Portugal 17959406 Bessa et al., Mol Genet Metab, 2008 Pa-cln2.164
cln2.079 Intron 7 c.887-10A>G p.Gly296delinsGluAsnProGly Intron change JNCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.180
cln2.008  Exon 8 c.888_1066del p.His298LeufsX3 179-bp deletion 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.283
cln2.017 Exon 8 c.972_979delCTATGGAG p.Ser324ArgfsX2 8-bp deletion 1 France / Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.044
cln2.017 Exon 8 c.972_979delCTATGGAG p.Ser324ArgfsX2 8-bp deletion 1 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.064
cln2.018 Exon 8 c.1027G>A p.Glu343Lys Missense Probably damaging 1 Finnish-Swedish-Norwegian/English-Scottish 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.045
cln2.018 Exon 8 c.1027G>A p.Glu343Lys Missense Probably damaging 1 England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.065
cln2.047 Exon 8 c.1015C>T p.Arg339Trp Missense Probably damaging 1 France 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.285
cln2.047 Exon 8 c.1015C>T p.Arg339Trp Missense Probably damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.292
cln2.060 Exon 8 c.1064T>C p.Leu355Pro Missense Probably damaging 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.287
cln2.064 Exon 8 c.1057A>C p.Thr353Pro Missense Probably damaging 2 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.105-106
cln2.073 Exon 8 c.987_989delGGAinsCTC p.Glu329_Asp330delinsAspSer 3-bp deletion/insertion LINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.282
cln2.077 Exon 8 c.1016G>A p.Arg339Gln Missense Probably damaging LINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 (Milą personal communication) Pa-cln2.179 formerly named cln2.74 snce on same allele
cln2.077 Exon 8 c.1016G>A p.Arg339Gln Missense Probably damaging LINCL 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.348
cln2.093 Exon 8 c.984_986delTGA p.Asp328del 3-bp deletion 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.284
cln2.111 Exon 8 c.1062delG p.Leu355SerfsX72 1-bp deletion 1 Italy 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.202
cln2.019 Intron 8 c.1075+2T>G splice defect / Frameshift Splice site 1 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.056
cln2.044 Intron 8 c.1076-2A>G splice defect / frameshift Splice site 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.298
cln2.131 Intron 8 c.1076-2A>T splice defect / frameshift Splice site 1 Italy A. Simonati pers comm Pa-cln2.362
cln2.094 Intron 8 c.1076-18A>G Sequence variant JNCL 3 USA 21990111 Kousi et al., Hum Mut; 2012 (Rothberg pers comm to Mutation Database) transiently cln2.079
cln2.112 Intron 8 c.1075+2T>C splice defect Splice site 1 The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.255
cln2.002 Exon 9 c.1093T>C p.Cys365Arg Missense Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.066
cln2.003 Exon 9 c.1094G>A p.Cys365Tyr Missense Probably damaging 3 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.046, Pa-cln2.067, 068
cln2.003 Exon 9 c.1094G>A p.Cys365Tyr Missense Probably damaging 1 Ireland 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.288
cln2.003 Exon 9 c.1094G>A p.Cys365Tyr Missense Probably damaging 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.230
cln2.036 Intron 9 c.1146-127C>G Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5044C>G
cln2.020 Exon 10 c.1154T>A p.Val385Asp Missense Probably damaging 1 England-Germany/Hungary-Poland-Russia 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.057
cln2.021 Exon 10 c.1166G>A p.Gly389Glu Missense Probably damaging 2 Romany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.016-017
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 1 German / English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.023
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.047
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 1 Denmark 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.048
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 1 Poland-Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.058
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 1 Mexico 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.059
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 1 England / Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.060
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging     1 Spain 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.069
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging     1 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.107
cln2.022 Exon 10 c.1266G>C p.Gln422His Missense Probably damaging 2 Netherlands 21990111 Kousi et al., Hum Mut; 2012; Sun et al Hum Mutat 2013 Pa-cln2.253, 331
cln2.085 Exon 10 c.1204G>T p.Glu402X Nonsense 1 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln2.167
cln2.113 Exon 10 c.1146C>G p.Ser382Arg Missense Probably damaging 1 Spain 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.180
cln2.037 Intron 10 c.1266+5G>A Sequence variant 1 Canada 10330339     21990111 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.271 originally described as 5276G>A
cln2.006 Exon 11 c.1340G>A p.Arg447His Missense Probably damaging 1 French-German-Irish-Scottish-English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.049
cln2.006 Exon 11 c.1340G>A p.Arg447His Missense Probably damaging 1 Germany-Ireland-Poland-England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.061
cln2.006 Exon 11 c.1340G>A p.Arg447His Missense Probably damaging 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.361
cln2.023 Exon 11 c.1361C>A p.Ala454Glu Missense Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.068
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Czech-Ukranian-Welsh 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.050
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.289
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.186
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Hungary 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.197
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.244
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Sweden 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.252
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Chile 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.353
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Missense Probably damaging 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.361
cln2.055 = cln2.065 Exon 11 c.1284G>T p.Lys428Asn Missense Benign 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.115
cln2.056 Exon 11 c.1379G>A p.Trp460X Nonsense 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.077
cln2.057 Exon 11 c.1417G>A p.Gly473Arg Missense Probably damaging 1 China 11241479 Lam et al.,Am J Med Genet, 2001 Pa-cln2.088
cln2.057 Exon 11 c.1417G>A p.Gly473Arg Missense Probably damaging 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.075
cln2.078 Exon 11 Polymorphism p.Val426Val Sequence variant 1 Argentina   Noher de Halac et al.   2005 . In: Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America - an update .  Pa-cln2.310 transiently cln2.076
cln2.082 Exon 11 c.1424delC p.Ser475TrpfsX13 1-bp deletion 2 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.141-142, Pa-cln2.143
cln2.082 Exon 11 c.1424delC p.Ser475TrpfsX13 1-bp deletion 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.264
cln2.090 Exon 11 c.1358C>T p.Ala453Val Missense Probably damaging LINCL 3 Argentina 23266810 Kohan et al., Clin Genet, 2009; Kohan et al., 2013, Gene 516:114-21 Pa-cln2.174, Pa.cln2.340, 341
cln2.114 Exon 11 c.1343C>T p.Ala448Val Missense Probably damaging 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.259
cln2.130 Exon 11 c.1397T>G p.Val466Gly Missense SCAR7 2 The Netherlands In press Hum Mutat 2013 Pa-cln2.318-322, Pa-cln2.323
cln2.038 Intron 11 c.1425+122T>C Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5644T>C
cln2.039 Intron 11