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 patients 361
No. of families 340
Additional notes
DB Patient ID Other Patient ID Allele 1 nt (aa) Allele 2 nt (aa) Changes in the same gene Changes in other genes Phenotype Age of onset Histology Country of origin Country of residence Reference PMID Notes
Pa-cln2.001 C7787_Sleat_1997 c.509-1G>C p.Arg208X LINCL n.a. n.a. Irish-Scottish-English Sleat et al., 1997 9295267
Pa-cln2.002 1_Zhong_1998 c.509-1G>C c.509-1G>C LINCL n.a. n.a. USA Wisniewski et al., 1998 9492089
Pa-cln2.003 2_Zhong_1998 c.509-1G>C c.509-1G>C LINCL n.a. n.a. USA Wisniewski et al., 1999 9492089
Pa-cln2.004 3_Zhong_1998 p.Arg208X p.Arg208X LINCL n.a. n.a. USA Wisniewski et al., 2000 9492089
Pa-cln2.005 4_Zhong_1998 c.509-1G>C p.Arg208X LINCL n.a. n.a. USA Wisniewski et al., 2001 9492089
Pa-cln2.006 5_Zhong_1998 c.509-1G>C p.Arg208X LINCL n.a. n.a. USA Wisniewski et al., 2002 9492089
Pa-cln2.007 6_Zhong_1998 c.509-1G>C p.Arg208X LINCL n.a. n.a. USA Wisniewski et al., 2003 9492089
Pa-cln2.008 7_Zhong_1998 c.509-1G>C not identified LINCL n.a. n.a. USA Wisniewski et al., 2004 9492089
Pa-cln2.009 8_Zhong_1998 c.509-1G>C not identified LINCL n.a. n.a. USA Wisniewski et al., 2005 9492089
Pa-cln2.010 9_Zhong_1998 c.509-1G>C not identified LINCL n.a. n.a. USA Wisniewski et al., 2006 9492089
Pa-cln2.011 10_Zhong_1998 c.509-1G>C not identified LINCL n.a. n.a. USA Wisniewski et al., 2007 9492089
Pa-cln2.012 11_Zhong_1998 p.Arg208X not identified LINCL n.a. n.a. USA Wisniewski et al., 2008 9492089
Pa-cln2.013 IGF032/85_Sleat_1999 p.Gln66X p.Gln66X LINCL 3yr CV Italy Sleat et al., 1999 10330339
Pa-cln2.014 GUS15820_Sleat_1999 p.Gln75Gln / Splice defect c.509-1G>C LINCL 3yr CV Spanish/French/English/Irish/American Indian USA Sleat et al., 1999 10330339
Pa-cln2.015 KEW1_Sleat_1999 p.Gly77Arg c.509-1G>C LINCL 3yr CV / GROD Irish/American Indian/ German Sleat et al., 1999 10330339
Pa-cln2.016 CABM006_Sleat_1999 p.Gly389Glu p.Gly389Glu p.Gln100Arg LINCL 2.2yr FP Romany Sleat et al., 1999 10330339
Pa-cln2.017 IGF087/79_Sleat_1999 p.Gly389Glu p.Gly389Glu p.Gln100Arg LINCL 3yr CV Romany Sleat et al., 1999 10330339
Pa-cln2.018 BD00224_Sleat_1999 p.Ile126ArgfsX8 p.Arg208X LINCL 3yr CV German Sleat et al., 1999 10330339
Pa-cln2.019 2740_Sleat_1999 p.Ile126ArgfsX8 p.Arg208X LINCL n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.020 CABM011_Sleat_1999 p.Arg127X p.Arg208X LINCL 3yr CV Mexico Sleat et al., 1999 10330339
Pa-cln2.021 C10516_Sleat_1999 c.509-1G>A c.509-1G>C LINCL 3.5yr CV / FP England / Scottland Sleat et al., 1999 10330339
Pa-cln2.022 DNP1_Sleat_1999 c.509-1G>A c.509-1G>C LINCL 3yr CV England / Dutch Sleat et al., 1999 10330339
Pa-cln2.023 GUS26235__Sleat_1999 c.509-1G>A p.Gln422His LINCL 3.5yr CV German / English Sleat et al., 1999 10330339
Pa-cln2.024 BD00173_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 3yr CV German / English Sleat et al., 1999 10330339
Pa-cln2.025 C10557_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 3yr CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.026 C8878_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 2.5yr CV Swedish-English-Irish/Scottish-Irish-Norwegian Sleat et al., 1999 10330339
Pa-cln2.027 CABM001_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 3.5yr CV Germany Sleat et al., 1999 10330339
Pa-cln2.028 CABM004_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 3yr CV Scottland-Ireland Sleat et al., 1999 10330339
Pa-cln2.029 CABM009_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 3.3yr CV English-Irish / English-Swedish Sleat et al., 1999 10330339
Pa-cln2.030 CABM017_Sleat_1999 c.509-1G>C c.509-1G>C LINCL 3.5yr CV English-Irish / German-Indian Sleat et al., 1999 10330339
Pa-cln2.031 BD00219_Sleat_1999 c.509-1G>C p.Arg208X LINCL 3yr CV England Sleat et al., 1999 10330339
Pa-cln2.032 BD00431_Sleat_1999 c.509-1G>C p.Arg208X LINCL 2yr CV Canada Sleat et al., 1999 10330339
Pa-cln2.033 C7153_Sleat_1999 c.509-1G>C p.Arg208X LINCL 2yr CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.034 C9542_Sleat_1999 c.509-1G>C p.Arg208X LINCL 2yr CV Germany / Irland-Scottland Sleat et al., 1999 10330339
Pa-cln2.035 CABM0015_Sleat_1999 c.509-1G>C p.Arg208X LINCL 3yr CV German-Czech/canadian-North American Indian Sleat et al., 1999 10330339
Pa-cln2.036 CABM002_Sleat_1999 c.509-1G>C p.Arg208X LINCL 2.9yr CV Denmark Sleat et al., 1999 10330339
Pa-cln2.037 CABM003_Sleat_1999 c.509-1G>C p.Arg208X LINCL 3.8yr CV Northern European Sleat et al., 1999 10330339
Pa-cln2.038 CABM005_Sleat_1999 c.509-1G>C p.Arg208X LINCL 2.3yr CV England / Scottland Sleat et al., 1999 10330339
Pa-cln2.039 CABM016_Sleat_1999 c.509-1G>C p.Arg208X LINCL 3yr CV England-Ireland-Scottland Sleat et al., 1999 10330339
Pa-cln2.040 GUS18769_Sleat_1999 c.509-1G>C p.Arg208X LINCL 3yr CV England-Ireland-American Indian Sleat et al., 1999 10330339
Pa-cln2.041 GUS26230_Sleat_1999 c.509-1G>C p.Arg208X LINCL n.a. n.a. French-Irish-German Sleat et al., 1999 10330339
Pa-cln2.042 C7788_Sleat_1999 c.509-1G>C p.Arg208X LINCL 3yr CV Irish-Scottish-English Sleat et al., 1999 10330339
Pa-cln2.043 BD00397_Sleat_1999 c.509-1G>C c.887-18A>G LINCL 2yr CV England / Scottland Sleat et al., 1999 10330339
Pa-cln2.044 C9801_Sleat_1999 c.509-1G>C p.Ser324ArgfsX2 LINCL 3yr CV France / Italy Sleat et al., 1999 10330339
Pa-cln2.045 CABM007/8_Sleat_1999 c.509-1G>C p.Glu343Lys LINCL 3yr n.a. Finnish-Swedish-Norwegian/English-Scottish Sleat et al., 1999 10330339
Pa-cln2.046 CABM013/14_Sleat_1999 c.509-1G>C p.Cys365Tyr LINCL n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.047 1932_Sleat_1999 c.509-1G>C p.Gln422His LINCL n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.048 CABM010_Sleat_1999 c.509-1G>C p.Gln422His LINCL 2.8yr CV Denmark Sleat et al., 1999 10330339
Pa-cln2.049 KEW2_Sleat_1999 c.509-1G>C p.Arg447His JNCL 7yr CV / FP French-German-Irish-Scottish-English Sleat et al., 1999 10330339 JNCL
Pa-cln2.050 F624/C6824_Sleat_1999 c.509-1G>C p.Ser475Leu LINCL 3yr CV / FP Czech-Ukranian-Welsh Sleat et al., 1999 10330339
Pa-cln2.051 BD00134_Sleat_1999 p.Arg208X p.Arg208X LINCL 2.5yr CV England Sleat et al., 1999 10330339
Pa-cln2.052 BD00463_Sleat_1999 p.Arg208X p.Arg208X LINCL 2.9yr CV Polish/Swedish-French-Bohemian Sleat et al., 1999 10330339
Pa-cln2.053 C7149_Sleat_1999 p.Arg208X p.Arg208X LINCL 3yr CV Poland-Germany/Norway Sleat et al., 1999 10330339
Pa-cln2.054 C8149_Sleat_1999 p.Arg208X p.Arg208X LINCL 3yr CV / FP Poland Sleat et al., 1999 10330339
Pa-cln2.055 CABM012_Sleat_1999 p.Arg208X p.Arg208X LINCL 3yr n.a. Norway-Germany-Poland Sleat et al., 1999 10330339
Pa-cln2.056 C11496_Sleat_1999 p.Arg208X c.1075+2T>G LINCL 2yr CV Italy Sleat et al., 1999 10330339
Pa-cln2.057 BD00385_Sleat_1999 p.Arg208X p.Val385Asp LINCL 3yr CV / FP English-German/Hungarian-Polish-Russian Sleat et al., 1999 10330339
Pa-cln2.058 BD00271_Sleat_1999 p.Arg208X p.Gln422His LINCL 3yr CV Poland-Germany Sleat et al., 1999 10330339
Pa-cln2.059 C11571_Sleat_1999 p.Arg208X p.Gln422His LINCL 3yr CV Mexico Sleat et al., 1999 10330339
Pa-cln2.060 KEW3_Sleat_1999 p.Arg208X p.Gln422His LINCL 2.5yr CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.061 ANS1_Sleat_1999 p.Arg208X p.Arg447His JNCL 8yr CV / FP Germany-Ireland-Poland-England Sleat et al., 1999 10330339 JNCL
Pa-cln2.062 GUS26252_Sleat_1999 p.Arg208X c.1552-1G>C n.a. n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.063 GM09404_Sleat_1999 p.Ile287Asn not identified n.a. n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.064 IGF056/87_Sleat_1999 p.Ser324ArgfsX2 p.Ser324ArgfsX2 LINCL 3yr CV Italy Sleat et al., 1999 10330339
Pa-cln2.065 GUS23717_Sleat_1999 p.Glu343Lys p.Glu343Lys LINCL 3.5yr CV England Sleat et al., 1999 10330339
Pa-cln2.066 WG308_Sleat_1999 p.Cys365Arg p.Gln534ProfsX74 LINCL n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.067 WG305_Sleat_1999 p.Cys365Tyr p.Cys365Tyr LINCL n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.068 DNP2_Sleat_1999 p.Cys365Tyr p.Ala454Glu LINCL n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.069 C9538_Sleat_1999 p.Gln422His p.Gln422His LINCL 2.5yr CV Spain Sleat et al., 1999 10330339
Pa-cln2.070 BD00284_Sleat_1999 p.Leu560ThrfsX47 p.Leu560ThrfsX47 LINCL 3yr CV Romania/Canada Sleat et al., 1999 10330339
Pa-cln2.071 KEW4_Sleat_1999 not identified not identified LINCL 0.8yr CV / GROD Hispanic Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.072 GUS16766_Sleat_1999 not identified not identified LINCL n.a. n.a. Middle Eastern Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.073 1107_Harikainen_1999 c.509-1G>C c.509-1G>A LINCL 3.5yr CV / FP Scottland - Ireland- England Hartikainen et al., 1999 10356316
Pa-cln2.074 1077_Harikainen_1999 c.509-1G>A 5' rearrangement resulting in frameshift JNCL 7yr CV / FP Lebanon Hartikainen et al., 1999 10356316
Pa-cln2.075 1_Zhong_2000 p.Arg208X p.Gly473Arg LINCL 2-2.5yr CV USA Zhong et al., 2000 11339651
Pa-cln2.076 2_Zhong_2000 p.Arg208X c.381-2A>G LINCL 3yr CV USA Zhong et al., 2000 11339651
Pa-cln2.077 3_Zhong_2000 c.509-1G>C p.Trp460X LINCL 4yr CV USA Zhong et al., 2000 11339651
Pa-cln2.078 4_Zhong_2000 c.509-1G>C p.Pro544Ser LINCL 3yr CV USA Zhong et al., 2000 11339651 not p.Ala555Pro as originally published
Pa-cln2.079 5_Zhong_2000 c.509-1G>C p.Gly284Val LINCL 2-2.5yr n.a. USA Zhong et al., 2000 11339651
Pa-cln2.080 6_Zhong_2000 c.509-1G>C p.Leu120SerfsX18 LINCL 2yr CV USA Zhong et al., 2000 11339651
Pa-cln2.081 7_Zhong_2000 c.509-1G>C p.Arg127Gln LINCL 4yr CV / FP / GROD USA Zhong et al., 2000 11339651
Pa-cln2.082 1_Simonati_2000 p.Arg208X p.Arg208X LINCL 4mo CV Italy Simonati et al., 2000 11071145
Pa-cln2.083 1_Berry-Kravis_2000 c.509-1G>C p.Arg208X LINCL 3.5yr CV European / Native American Berry-Kravis et al., 2000 10665500
Pa-cln2.084 2_Berry-Kravis_2000 p.Arg206Cys p.Arg206Cys LINCL 3yr CV Turkey Berry-Kravis et al., 2000 10665500
Pa-cln2.085 1_Tessa_2000 p.Gln509X p.Gln509X p.Gln100Arg LINCL 3.5yr CV Italy Tessa et al., 2000 10862088
Pa-cln2.086 2_Tessa_2000 p.Gln509X p.Arg208X c.90-44C>T   LINCL 3yr CV / FP Italy   Tessa et al., 2000 10862088 sibs
Pa-cln2.087 3_Tessa_2000 p.Gln509X p.Arg208X     LINCL 3.5yr CV / FP Italy   Tessa et al., 2000 10862088  
Pa-cln2.088 1_Lam_2001 p.Ser62GlyfsX25 p.Gly473Arg LINCL 2yr CV China Lam et al., 2001 11241479
Pa-cln2.089 1_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.090 2_Steinfeld_2002 p.Arg208X p.Arg208X p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.091 3_Steinfeld_2002 p.Arg208X p.Arg208X p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.092 4_Steinfeld_2002 p.Arg208X p.Arg208X p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.093 5_Steinfeld_2002 c.509-1G>C c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.094 6_Steinfeld_2002 p.Arg208X p.Arg208X p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.095 7_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.096 8_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.097 9_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.098 10_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.099 11_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.100 12_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.101 13_Steinfeld_2002 p.Arg208X p.Arg208X p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.102 14_Steinfeld_2002 p.Arg208X p.Arg208X p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.103 15_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.104 16_Steinfeld_2002 p.Arg208X c.509-1G>C p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.105 17_Steinfeld_2002 c.509-1G>C p.Thr353Pro p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.106 18_Steinfeld_2002 c.509-1G>C p.Thr353Pro p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.107 19_Steinfeld_2002 c.509-1G>C p.Gln422His p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.108 20_Steinfeld_2002 p.Asn286Ser p.Asn286Ser p.His175 LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.109 21_Steinfeld_2002 p.Asn286Ser p.Asn286Ser p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.110 22_Steinfeld_2002 p.Arg208X p.Arg127Gln p.Arg175His LINCL n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.111 1_Ju_2002 c.509-1G>C c.509-1G>C LINCL 3yr CV Canada Ju et al., 2002 12414822
Pa-cln2.112 2_Ju_2002 c.509-1G>C c.509-1G>C LINCL 2.8yr CV / GROD Canada Ju et al., 2002 12414822
Pa-cln2.113 3_Ju_2002 c.509-1G>C c.509-1G>C INCL 0.9yr CV Canada Ju et al., 2002 12414822
Pa-cln2.114 4_Ju_2002 c.509-1G>C p.Gly284Val LINCL 3yr CV Canada Ju et al., 2002 12414822
Pa-cln2.115 5_Ju_2002 c.509-1G>C p.Lys428Asn LINCL 2.5yr n.a. Canada Ju et al., 2002 12414822
Pa-cln2.116 6_Ju_2002 c.509-1G>C p.Arg208X LINCL 3.5yr CV Canada Ju et al., 2002 12414822
Pa-cln2.117 7_Ju_2002 p.Arg208X not identified LINCL 2yr CV Canada Ju et al., 2002 12414822
Pa-cln2.118 8_Ju_2002 p.Gly284Val p.Arg208X     LINCL 2yr CV Canada   Ju et al., 2002 12414822 Founder effect
Pa-cln2.119 9_Ju_2002 p.Gly284Val p.Arg208X LINCL n.a. n.a. Canada Ju et al., 2002 12414822  
Pa-cln2.120 10_Ju_2002 p.Gly284Val p.Gly284Val LINCL 3yr CV Canada Ju et al., 2002 12414822  
Pa-cln2.121 11_Ju_2002 p.Gly284Val p.Gly284Val LINCL 3yr n.a. Canada Ju et al., 2002 12414822  
Pa-cln2.122 12_Ju_2002 p.Gly284Val not identified LINCL 3yr CV Canada Ju et al., 2002 12414822  
Pa-cln2.123 13_Ju_2002 p.Gly284Val c.509-1G>C LINCL 2.5yr n.a. Canada Ju et al., 2002 12414822  
Pa-cln2.124 14_Ju_2002 p.Gly284Val p.Phe481Cys INCL 0.1yr n.a. Canada Ju et al., 2002 12414822  
Pa-cln2.125 15_Ju_2002 p.Gly284Val uncharacterised 1 bp deletion in exon 7 LINCL 3.5yr CV Canada Ju et al., 2002 12414822  
Pa-cln2.126 16_Ju_2002 p.Gly284Val not identified LINCL 3yr CV Canada Ju et al., 2002 12414822  
Pa-cln2.127 17_Ju_2002 p.Gly284Val not identified     LINCL 3yr CV Canada   Ju et al., 2002 12414822  
Pa-cln2.128 18_Ju_2002 p.Val277Met not identified LINCL n.a. n.a. Canada Ju et al., 2002 12414822
Pa-cln2.129 19_Ju_2002 p.Gln278Pro not identified LINCL 2yr CV Canada Ju et al., 2002 12414822
Pa-cln2.130 20_Ju_2002 c.1552-1G>C not identified LINCL 3yr CV / FP Canada Ju et al., 2002 12414822
Pa-cln2.131 1_Lavrov_2002 p.Arg208X p.Arg208X LINCL 3.5yr n.a. Russia Lavrov et al., 2002 12363103
Pa-cln2.132 2_Lavrov_2002 p.Arg208X p.Arg208X LINCL 2yr 9mo n.a. Russia Lavrov et al., 2002 12363103
Pa-cln2.133 3_Lavrov_2002 p.Arg208X p.Arg208X LINCL 3yr n.a. Russia Lavrov et al., 2002 12363103
Pa-cln2.134 1_Kohan_2008 p.Leu104X not identified LINCL n.a. n.a. Argentina Kohan et al., 2008 20960655
Pa-cln2.135 3_Teixeira_2003 p.Arg208X p.Arg208X LINCL 3yr CV Portugal Teixeira et al., 2003b 12796825
Pa-cln2.136 3_Koul_2007 p.Gln509X p.Gln509X     LINCL 4yr CL/FP Oman   Koul et al., 2007 17690061 sibs
Pa-cln2.137 4_Koul_2007 p.Gln509X p.Gln509X LINCL 3y6mo CL/FP Oman Koul et al., 2007 17690061  
Pa-cln2.138 5_Koul_2007 p.Gln509X p.Gln509X     LINCL 3yr CL/FP Oman   Koul et al., 2007 17690061  
Pa-cln2.139 6_Koul_2007 p.Gln509X p.Gln509X     LINCL 3y6mo CL/FP Oman   Koul et al., 2007 17690061 sibs
Pa-cln2.140 7_Koul_2007 p.Gln509X p.Gln509X     LINCL 3yr CL/FP Oman   Koul et al., 2007 17690061  
Pa-cln2.141 CLN2_1_Moore_2008 p.Ser475TrpfsX13 p.Ser475TrpfsX13     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 sibs
Pa-cln2.142 CLN2_2_Moore_2008 p.Ser475TrpfsX13 p.Ser475TrpfsX13     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116  
Pa-cln2.143 CLN2_3_Moore_2008 p.Ser475TrpfsX13 p.Ser475TrpfsX13 LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.144 CLN2_4_Moore_2008 p.Gly284Val p.Gly284Val     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 sibs
Pa-cln2.145 CLN2_5_Moore_2008 p.Gly284Val p.Gly284Val     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116  
Pa-cln2.146 CLN2_6_Moore_2008 p.Gly284Val p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.147 CLN2_7_Moore_2008 p.Gly284Val p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.148 CLN2_8_Moore_2008 p.Gly284Val p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.149 CLN2_9_Moore_2008 p.Gly284Val p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.150 CLN2_10_Moore_2008 c.509-1G>C c.509-1G>C LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.151 CLN2_11_Moore_2008 c.509-1G>C c.509-1G>C LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.152 CLN2_12_Moore_2008 c.509-1G>C c.509-1G>C LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.153 CLN2_13_Moore_2008 c.509-1G>C c.509-1G>C LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.154 CLN2_14_Moore_2008 p.Leu104X p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.155 CLN2_15_Moore_2008 p.Arg208X p.Gly284Val     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 sibs
Pa-cln2.156 CLN2_16_Moore_2008 p.Arg208X p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116  
Pa-cln2.157 CLN2_17_Moore_2008 p.Arg208X p.Gly284Val     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116  
Pa-cln2.158 CLN2_18_Moore_2008 c.509-1G>C p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.159 CLN2_19_Moore_2008 c.509-1G>C p.Gly284Val LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.160 CLN2_20_Moore_2008 c.509-1G>C p.Arg208X LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.161 CLN2_21_Moore_2008 c.509-1G>C p.Arg208X LINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.162 CLN2_22_Moore_2008 p.Gly284Val not identified     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 sibs
Pa-cln2.163 CLN2_23_Moore_2008 p.Gly284Val not identified     LINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116  
Pa-cln2.164 1_Bessa_2008 c.887-10A>G c.887-10A>G JNCL 10yr CV Portugal Bessa et al., 2008 17959406
Pa-cln2.165 1_Elleder_2008 p.Arg208X p.Val480Gly JNCL 3yr CV Czech Republic Elleder et al., 2008 18283468
Pa-cln2.166 N4403_Kousi_2009 c.17+1G>C c.17+1G>C LINCL 3yr n.a. Turkey Kousi et al., 2009 19201763
Pa-cln2.167 N1903_Kousi_2009 p.Glu402X p.Glu402X n.a. n.a. n.a. Turkey Kousi et al., 2009 19201763
Pa-cln2.168 N2103_Kousi_2009 p.Gly482Arg p.Gly482Arg n.a. n.a. n.a. Turkey Kousi et al., 2009 19201763
Pa-cln2.168 3_Kohan_2009 or 2_Noher de Halac_2005 p.Gln66X c.887-10A>G c.89+4A>G   JNCL 9yr CV / FP Argentina   Kohan et al., 2009 19793312 sibs                    JNCL
Pa-cln2.169 4_Kohan_2009 or 3_Noher de Halac_2005 p.Gln66X c.887-10A>G c.89+4A>G JNCL 9yr CV / FP Argentina Kohan et al., 2009 19793312  
Pa-cln2.170 5_Kohan_2009 or 4_Noher de Halac_2005 p.Gln66X c.887-10A>G c.89+4A>G   JNCL 9yr CV / FP Argentina   Kohan et al., 2009 19793312  
Pa-cln2.171 16CC_Kohan_2009 p.Arg208X p.Asp276Val LINCL 3.5yr CV Argentina Kohan et al., 2009 19793312
Pa-cln2.172 70GAT_Kohan_2009 p.Asp276Val p.Asp276Val LINCL 3yr CV Argentina Kohan et al., 2009 19793312
Pa-cln2.173 73CL_Kohan_2009 p.Asp276Val p.Asp276Val LINCL 3yr CV Argentina Kohan et al., 2009 19793312
Pa-cln2.174 82VS_Kohan_2009 p.Leu104X p.Ala453Val c.687+32T>C LINCL 4yr CV Argentina Kohan et al., 2009 19793312
Pa-cln2.175 1_Goldberg-Stern_2009 p.Arg259ValfsX17 p.Arg259ValfsX17     LINCL 3yr n.a. Israel-Arab   Goldberg-Stern et al., 2009 19748052 sibs
Pa-cln2.176 2_Goldberg-Stern_2009 p.Arg259ValfsX17 p.Arg259ValfsX17     LINCL 3yr n.a. Israel-Arab   Goldberg-Stern et al., 2009 19748052  
Pa-cln2.177 II:2_Wang_2011 p.Val216Met c.1551+1G>A LINCL 3.5yr CL China Wang et al., 2011 20820830
Pa-cln2.178 BAR8_Kousi_2011_novel c.17+1G>C c.17+1G>C n.a. n.a. n.a. Spain Kousi et al., 2012 21990111
Pa-cln2.179 BAR9_Kousi_2011_novel p.Arg266Gln p.Arg339Gln n.a. n.a. n.a. Spain Kousi et al., 2012 21990111
Pa-cln2.180 BAR10_Kousi_2011_novel p.Ser382Arg c.887-10A>G n.a. n.a. n.a. Spain Kousi et al., 2012 21990111
Pa-cln2.181 POR2_Kousi_2011_novel c.1551+5_1551+6delGTinsTA c.1551+5_1551+6delGTinsTA n.a. n.a. n.a. Portugal Kousi et al., 2012 21990111
Pa-cln2.182 POR3_Kousi_2011_novel c.1551+5_1551+6delGTinsTA p.Arg208X n.a. n.a. n.a. Portugal Kousi et al., 2012 21990111
Pa-cln2.183 CZR1_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.184 CZR2_Kousi_2011_novel p.Arg208X p.Tyr79X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.185 CZR4_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.186 CZR5_Kousi_2011_novel p.Ser475Leu c.509-1G>C n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.187 CZR6_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.188 CZR7_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.189 CZR8_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.190 CZR9_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.191 CZR10_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.192 CZR12_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Brazil Kousi et al., 2012 21990111
Pa-cln2.193 CZR13_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.194 CZR14_Kousi_2011_novel p.Arg208X p.Trp548Arg n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.195 CZR15_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.196 CZR17_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.197 CZR18_Kousi_2011_novel p.Arg208X p.Ser475Leu n.a. n.a. n.a. Hungary Kousi et al., 2012 21990111
Pa-cln2.198 CZR19_Kousi_2011_novel p.Arg208X c.509-1G>C n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.199 CZR26_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111
Pa-cln2.200 ITA3_Kousi_2011_novel p.Gln214X p.Gly77Arg LINCL n.a. CL/FP Italy Kousi et al., 2012 21990111
Pa-cln2.201 ITA4_Kousi_2011_novel p.Gln264X p.Gly77Arg LINCL n.a. CL/FP Italy Kousi et al., 2012 21990111
Pa-cln2.202 ITA5_Kousi_2011_novel p.Leu355SerfsX72 p.Gly77Arg LINCL n.a. CL/FP Italy Kousi et al., 2012 21990111
Pa-cln2.203 22347_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.204 23695_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.205 24481_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.206 26569_Kousi_2011_novel c.509-1G>C p.Arg208X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.207 28401_1_Kousi_2011_novel c.509-1G>C c.509-1G>C     n.a. n.a. n.a. UK   Kousi et al., 2012 21990111 sibs
Pa-cln2.208 28401_2_Kousi_2011_novel c.509-1G>C c.509-1G>C     n.a. n.a. n.a. UK   Kousi et al., 2012 21990111  
Pa-cln2.209 30017_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.210 33433_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.211 34110_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.212 35773_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.213 39472_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.214 39471_Kousi_2011_novel p.Arg208X p.Arg208X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.215 39923_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.216 41345_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.217 42761_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.218 42550_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.219 43958_Kousi_2011_novel c.509-1G>C p.Arg208X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.220 56926_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.221 59652_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.222 59995_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.223 64833_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.224 65825_Kousi_2011_novel c.509-1G>C c.509-1G>C n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln2.225 66517_Kousi_2011_novel