chromosomal Location 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 385
No. of families 362
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 NCL Phenotype or other disease Age of onset (y) Histology Country of origin other ethnic detail Country of residence Reference PMID Notes Column1
Pa-cln2.001 C7787_Sleat_1997 c.509-1G>C p.Arg208* late infantile n.a. n.a. Ireland / Scotland / England Sleat et al., 1997 9295267
Pa-cln2.002 1_Zhong_1998 c.509-1G>C c.509-1G>C late infantile n.a. n.a. USA Wisniewski et al., 1998 9492089
Pa-cln2.003 2_Zhong_1998 c.509-1G>C c.509-1G>C late infantile n.a. n.a. USA Wisniewski et al., 1999 9492089
Pa-cln2.004 3_Zhong_1998 p.Arg208* p.Arg208* late infantile n.a. n.a. USA Wisniewski et al., 2000 9492089
Pa-cln2.005 4_Zhong_1998 c.509-1G>C p.Arg208* late infantile n.a. n.a. USA Wisniewski et al., 2001 9492089
Pa-cln2.006 5_Zhong_1998 c.509-1G>C p.Arg208* late infantile n.a. n.a. USA Wisniewski et al., 2002 9492089
Pa-cln2.007 6_Zhong_1998 c.509-1G>C p.Arg208* late infantile n.a. n.a. USA Wisniewski et al., 2003 9492089
Pa-cln2.008 7_Zhong_1998 c.509-1G>C not identified late infantile n.a. n.a. USA Wisniewski et al., 2004 9492089
Pa-cln2.009 8_Zhong_1998 c.509-1G>C not identified late infantile n.a. n.a. USA Wisniewski et al., 2005 9492089
Pa-cln2.010 9_Zhong_1998 c.509-1G>C not identified late infantile n.a. n.a. USA Wisniewski et al., 2006 9492089
Pa-cln2.011 10_Zhong_1998 c.509-1G>C not identified late infantile n.a. n.a. USA Wisniewski et al., 2007 9492089
Pa-cln2.012 11_Zhong_1998 p.Arg208* not identified late infantile n.a. n.a. USA Wisniewski et al., 2008 9492089
Pa-cln2.013 IGF032/85_Sleat_1999 p.Gln66* p.Gln66* late infantile 3 CV Italy Sleat et al., 1999 10330339
Pa-cln2.014 GUS15820_Sleat_1999 p.Gln75Gln / Splice defect c.509-1G>C late infantile 3 CV Spain / France / England / Ireland / USA American Indian USA Sleat et al., 1999 10330339
Pa-cln2.015 KEW1_Sleat_1999 p.Gly77Arg c.509-1G>C late infantile 3 CV / GROD Ireland / USA /  Germany American Indian Sleat et al., 1999 10330339
Pa-cln2.016 CABM006_Sleat_1999 p.Gly389Glu p.Gly389Glu p.Gln100Arg late infantile 2.2 FP Romany Sleat et al., 1999 10330339
Pa-cln2.017 IGF087/79_Sleat_1999 p.Gly389Glu p.Gly389Glu p.Gln100Arg late infantile 3 CV Romany Sleat et al., 1999 10330339
Pa-cln2.018 BD00224_Sleat_1999 p.Ile126Argfs*8 p.Arg208* late infantile 3 CV Germany Sleat et al., 1999 10330339
Pa-cln2.019 2740_Sleat_1999 p.Ile126Argfs*8 p.Arg208* late infantile n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.020 CABM011_Sleat_1999 p.Arg127* p.Arg208* late infantile 3 CV Mexico Sleat et al., 1999 10330339
Pa-cln2.021 C10516_Sleat_1999 c.509-1G>A c.509-1G>C late infantile 3.5 CV / FP England / Scotland Sleat et al., 1999 10330339
Pa-cln2.022 DNP1_Sleat_1999 c.509-1G>A c.509-1G>C late infantile 3 CV England / The Netherlands Sleat et al., 1999 10330339
Pa-cln2.023 GUS26235__Sleat_1999 c.509-1G>A p.Gln422His late infantile 3.5 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.024 BD00173_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 3 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.025 C10557_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 3 CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.026 C8878_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 2.5 CV Sweden / England / Ireland / Scotland / Norway Sleat et al., 1999 10330339
Pa-cln2.027 CABM001_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 3.5 CV Germany Sleat et al., 1999 10330339
Pa-cln2.028 CABM004_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 3 CV Scotland / Ireland Sleat et al., 1999 10330339
Pa-cln2.029 CABM009_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 3.3 CV England-Ireland / England-Sweden Sleat et al., 1999 10330339
Pa-cln2.030 CABM017_Sleat_1999 c.509-1G>C c.509-1G>C late infantile 3.5 CV England-Ireland / Germany-India Sleat et al., 1999 10330339
Pa-cln2.031 BD00219_Sleat_1999 c.509-1G>C p.Arg208* late infantile 3 CV England Sleat et al., 1999 10330339
Pa-cln2.032 BD00431_Sleat_1999 c.509-1G>C p.Arg208* late infantile 2 CV Canada Sleat et al., 1999 10330339
Pa-cln2.033 C7153_Sleat_1999 c.509-1G>C p.Arg208* late infantile 2 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.034 C9542_Sleat_1999 c.509-1G>C p.Arg208* late infantile 2 CV Germany / Ireland-Scotland Sleat et al., 1999 10330339
Pa-cln2.035 CABM0015_Sleat_1999 c.509-1G>C p.Arg208* late infantile 3 CV Germany -Czech Republic / Canada-USA Native American Sleat et al., 1999 10330339
Pa-cln2.036 CABM002_Sleat_1999 c.509-1G>C p.Arg208* late infantile 2.9 CV Denmark Sleat et al., 1999 10330339
Pa-cln2.037 CABM003_Sleat_1999 c.509-1G>C p.Arg208* late infantile 3.8 CV Northern Europe Sleat et al., 1999 10330339
Pa-cln2.038 CABM005_Sleat_1999 c.509-1G>C p.Arg208* late infantile 2.3 CV England / Scotland Sleat et al., 1999 10330339
Pa-cln2.039 CABM016_Sleat_1999 c.509-1G>C p.Arg208* late infantile 3 CV England / Ireland / Scotland Sleat et al., 1999 10330339
Pa-cln2.040 GUS18769_Sleat_1999 c.509-1G>C p.Arg208* late infantile 3 CV England / Ireland / USA Native American Sleat et al., 1999 10330339
Pa-cln2.041 GUS26230_Sleat_1999 c.509-1G>C p.Arg208* late infantile n.a. n.a. France / Ireland / Germany Sleat et al., 1999 10330339
Pa-cln2.042 C7788_Sleat_1999 c.509-1G>C p.Arg208* late infantile 3 CV Ireland Scotland-England Sleat et al., 1999 10330339
Pa-cln2.043 BD00397_Sleat_1999 c.509-1G>C c.887-18A>G late infantile 2 CV England / Scotland Sleat et al., 1999 10330339
Pa-cln2.044 C9801_Sleat_1999 c.509-1G>C p.Ser324Argfs*2 late infantile 3 CV France / Italy Sleat et al., 1999 10330339
Pa-cln2.045 CABM007/8_Sleat_1999 c.509-1G>C p.Glu343Lys late infantile 3 n.a. Finland-Sweden-Norway  / England-Scotland Sleat et al., 1999 10330339
Pa-cln2.046 CABM013/14_Sleat_1999 c.509-1G>C p.Cys365Tyr late infantile n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.047 1932_Sleat_1999 c.509-1G>C p.Gln422His late infantile n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.048 CABM010_Sleat_1999 c.509-1G>C p.Gln422His late infantile 2.8 CV Denmark Sleat et al., 1999 10330339
Pa-cln2.049 KEW2_Sleat_1999 c.509-1G>C p.Arg447His juvenile 7 CV / FP France / Germany / Ireland / Scotland / England Sleat et al., 1999 10330339
Pa-cln2.050 F624/C6824_Sleat_1999 c.509-1G>C p.Ser475Leu late infantile 3 CV / FP Czech Republic / Ukraine / Wales Sleat et al., 1999 10330339
Pa-cln2.051 BD00134_Sleat_1999 p.Arg208* p.Arg208* late infantile 2.5 CV England Sleat et al., 1999 10330339
Pa-cln2.052 BD00463_Sleat_1999 p.Arg208* p.Arg208* late infantile 2.9 CV Poland / Sweden / France / Bohemia Sleat et al., 1999 10330339
Pa-cln2.053 C7149_Sleat_1999 p.Arg208* p.Arg208* late infantile 3 CV Norway / Germany / Poland Sleat et al., 1999 10330339
Pa-cln2.054 C8149_Sleat_1999 p.Arg208* p.Arg208* late infantile 3 CV / FP Poland Sleat et al., 1999 10330339
Pa-cln2.055 CABM012_Sleat_1999 p.Arg208* p.Arg208* late infantile 3 n.a. Norway / Germany / Poland Sleat et al., 1999 10330339
Pa-cln2.056 C11496_Sleat_1999 p.Arg208* c.1075+2T>G late infantile 2 CV Italy Sleat et al., 1999 10330339
Pa-cln2.057 BD00385_Sleat_1999 p.Arg208* p.Val385Asp late infantile 3 CV / FP England / Germany / Hungary / Poland / Russia Sleat et al., 1999 10330339
Pa-cln2.058 BD00271_Sleat_1999 p.Arg208* p.Gln422His late infantile 3 CV Poland / Germany Sleat et al., 1999 10330339
Pa-cln2.059 C11571_Sleat_1999 p.Arg208* p.Gln422His late infantile 3 CV Mexico Sleat et al., 1999 10330339
Pa-cln2.060 KEW3_Sleat_1999 p.Arg208* p.Gln422His late infantile 2.5 CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.061 ANS1_Sleat_1999 p.Arg208* p.Arg447His juvenile 8 CV / FP Germany / Ireland / Poland / England Sleat et al., 1999 10330339
Pa-cln2.062 GUS26252_Sleat_1999 p.Arg208* 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.Ser324Argfs*2 p.Ser324Argfs*2 late infantile 3 CV Italy Sleat et al., 1999 10330339
Pa-cln2.065 GUS23717_Sleat_1999 p.Glu343Lys p.Glu343Lys late infantile 3.5 CV England Sleat et al., 1999 10330339
Pa-cln2.066 WG308_Sleat_1999 p.Cys365Arg p.Gln534Profs*74 late infantile n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.067 WG305_Sleat_1999 p.Cys365Tyr p.Cys365Tyr late infantile n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.068 DNP2_Sleat_1999 p.Cys365Tyr p.Ala454Glu late infantile n.a. n.a. n.a. Sleat et al., 1999 10330339
Pa-cln2.069 C9538_Sleat_1999 p.Gln422His p.Gln422His late infantile 2.5 CV Spain Sleat et al., 1999 10330339
Pa-cln2.070 BD00284_Sleat_1999 p.Leu560Thrfs*47 p.Leu560Thrfs*47 late infantile 3 CV Romania / Canada Sleat et al., 1999 10330339
Pa-cln2.071 KEW4_Sleat_1999 not identified not identified late infantile 0.8 CV / GROD Hispanic Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.072 GUS16766_Sleat_1999 not identified not identified late infantile n.a. n.a. Middle East Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.073 1107_Harikainen_1999 c.509-1G>C c.509-1G>A late infantile 3.5 CV / FP UK / Ireland  Hartikainen et al., 1999 10356316
Pa-cln2.074 1077_Harikainen_1999 c.509-1G>A 5' rearrangement resulting in frameshift juvenile 7 CV / FP Lebanon Hartikainen et al., 1999 10356316
Pa-cln2.075 1_Zhong_2000 p.Arg208* p.Gly473Arg late infantile 2-2.5 CV USA Zhong et al., 2000 11339651
Pa-cln2.076 2_Zhong_2000 p.Arg208* c.381-2A>G late infantile 3 CV USA Zhong et al., 2000 11339651
Pa-cln2.077 3_Zhong_2000 c.509-1G>C p.Trp460* late infantile 4 CV USA Zhong et al., 2000 11339651
Pa-cln2.078 4_Zhong_2000 c.509-1G>C p.Pro544Ser late infantile 3 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 late infantile 2-2.5 n.a. USA Zhong et al., 2000 11339651
Pa-cln2.080 6_Zhong_2000 c.509-1G>C p.Leu120Serfs*18 late infantile 2 CV USA Zhong et al., 2000 11339651
Pa-cln2.081 7_Zhong_2000 c.509-1G>C p.Arg127Gln late infantile 4 CV / FP / GROD USA Zhong et al., 2000 11339651
Pa-cln2.082 1_Simonati_2000 p.Arg208* p.Arg208* late infantile 0.33 CV Italy Simonati et al., 2000 11071145
Pa-cln2.083 1_Berry-Kravis_2000 c.509-1G>C p.Arg208* late infantile 3.5 CV Europe / USA Native American Berry-Kravis et al., 2000 10665500
Pa-cln2.084 2_Berry-Kravis_2000 p.Arg206Cys p.Arg206Cys late infantile 3 CV Turkey Berry-Kravis et al., 2000 10665500
Pa-cln2.085 1_Tessa_2000 p.Gln509* p.Gln509* p.Gln100Arg late infantile 3.5 CV Italy Tessa et al., 2000 10862088
Pa-cln2.086 2_Tessa_2000 p.Gln509* p.Arg208* c.90-44C>T late infantile 3 CV / FP Italy Tessa et al., 2000 10862088 sibs
Pa-cln2.087 3_Tessa_2000 p.Gln509* p.Arg208* late infantile 3.5 CV / FP Italy Tessa et al., 2000 10862088 sibs
Pa-cln2.088 1_Lam_2001 p.Ser62Glyfs*25 p.Gly473Arg late infantile 2 CV China Lam et al., 2001 11241479
Pa-cln2.089 1_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.090 2_Steinfeld_2002 p.Arg208* p.Arg208* p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.091 3_Steinfeld_2002 p.Arg208* p.Arg208* p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.092 4_Steinfeld_2002 p.Arg208* p.Arg208* p.Arg175His late infantile 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 late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.094 6_Steinfeld_2002 p.Arg208* p.Arg208* p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.095 7_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.096 8_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.097 9_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.098 10_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.099 11_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.100 12_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.101 13_Steinfeld_2002 p.Arg208* p.Arg208* p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.102 14_Steinfeld_2002 p.Arg208* p.Arg208* p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.103 15_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.104 16_Steinfeld_2002 p.Arg208* c.509-1G>C p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.105 17_Steinfeld_2002 c.509-1G>C p.Thr353Pro p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.106 18_Steinfeld_2002 c.509-1G>C p.Thr353Pro p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.107 19_Steinfeld_2002 c.509-1G>C p.Gln422His p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.108 20_Steinfeld_2002 p.Asn286Ser p.Asn286Ser p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.109 21_Steinfeld_2002 p.Asn286Ser p.Asn286Ser p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.110 22_Steinfeld_2002 p.Arg208* p.Arg127Gln p.Arg175His late infantile n.a. CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.111 1_Ju_2002 c.509-1G>C c.509-1G>C late infantile 3 CV Canada Ju et al., 2002 12414822
Pa-cln2.112 2_Ju_2002 c.509-1G>C c.509-1G>C late infantile 2.8 CV / GROD Canada Ju et al., 2002 12414822
Pa-cln2.113 3_Ju_2002 c.509-1G>C c.509-1G>C infantile 0.9 CV Canada Ju et al., 2002 12414822
Pa-cln2.114 4_Ju_2002 c.509-1G>C p.Gly284Val late infantile 3 CV Canada Ju et al., 2002 12414822
Pa-cln2.115 5_Ju_2002 c.509-1G>C p.Lys428Asn late infantile 2.5 n.a. Canada Ju et al., 2002 12414822
Pa-cln2.116 6_Ju_2002 c.509-1G>C p.Arg208* late infantile 3.5 CV Canada Ju et al., 2002 12414822
Pa-cln2.117 7_Ju_2002 p.Arg208* not identified late infantile 2 CV Canada Ju et al., 2002 12414822
Pa-cln2.118 8_Ju_2002 p.Gly284Val p.Arg208* late infantile 2 CV Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.119 9_Ju_2002 p.Gly284Val p.Arg208* late infantile n.a. n.a. Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.120 10_Ju_2002 p.Gly284Val p.Gly284Val late infantile 3 CV Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.121 11_Ju_2002 p.Gly284Val p.Gly284Val late infantile 3 n.a. Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.122 12_Ju_2002 p.Gly284Val not identified late infantile 3 CV Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.123 13_Ju_2002 p.Gly284Val c.509-1G>C late infantile 2.5 n.a. Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.124 14_Ju_2002 p.Gly284Val p.Phe481Cys infantile 0.1 n.a. Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.125 15_Ju_2002 p.Gly284Val uncharacterised 1 bp deletion in e*on 7 late infantile 3.5 CV Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.126 16_Ju_2002 p.Gly284Val not identified late infantile 3 CV Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.127 17_Ju_2002 p.Gly284Val not identified late infantile 3 CV Canada Ju et al., 2002 12414822 Founder effect
Pa-cln2.128 18_Ju_2002 p.Val277Met not identified late infantile n.a. n.a. Canada Ju et al., 2002 12414822
Pa-cln2.129 19_Ju_2002 p.Gln278Pro not identified late infantile 2 CV Canada Ju et al., 2002 12414822
Pa-cln2.130 20_Ju_2002 c.1552-1G>C not identified late infantile 3 CV / FP Canada Ju et al., 2002 12414822
Pa-cln2.131 1_Lavrov_2002 p.Arg208* p.Arg208* late infantile 3.5 n.a. Russia Lavrov et al., 2002 12363103
Pa-cln2.132 2_Lavrov_2002 p.Arg208* p.Arg208* late infantile 2.66 n.a. Russia Lavrov et al., 2002 12363103
Pa-cln2.133 3_Lavrov_2002 p.Arg208* p.Arg208* late infantile 3 n.a. Russia Lavrov et al., 2002 12363103
Pa-cln2.134 1_Kohan_2008 p.Leu104* not identified late infantile n.a. n.a. Argentina Kohan et al., 2008 20960655
Pa-cln2.135 3_Teixeira_2003 p.Arg208* p.Arg208* late infantile 3 CV Portugal Teixeira et al., 2003b 12796825
Pa-cln2.136 3_Koul_2007 p.Gln509* p.Gln509* late infantile 4 CL/FP Oman Koul et al., 2007 17690061 sibs
Pa-cln2.137 4_Koul_2007 p.Gln509* p.Gln509* late infantile 3.5 CL/FP Oman Koul et al., 2007 17690061 sibs
Pa-cln2.138 5_Koul_2007 p.Gln509* p.Gln509* late infantile 3 CL/FP Oman Koul et al., 2007 17690061 sibs
Pa-cln2.139 6_Koul_2007 p.Gln509* p.Gln509* late infantile 3.5 CL/FP Oman Koul et al., 2007 17690061 sibs
Pa-cln2.140 7_Koul_2007 p.Gln509* p.Gln509* late infantile 3 CL/FP Oman Koul et al., 2007 17690061 sibs
Pa-cln2.141 CLN2_1_Moore_2008 p.Ser475Trpfs*13 p.Ser475Trpfs*13 late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.142 CLN2_2_Moore_2008 p.Ser475Trpfs*13 p.Ser475Trpfs*13 late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.143 CLN2_3_Moore_2008 p.Ser475Trpfs*13 p.Ser475Trpfs*13 late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.144 CLN2_4_Moore_2008 p.Gly284Val p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.145 CLN2_5_Moore_2008 p.Gly284Val p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.146 CLN2_6_Moore_2008 p.Gly284Val p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.147 CLN2_7_Moore_2008 p.Gly284Val p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.148 CLN2_8_Moore_2008 p.Gly284Val p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.149 CLN2_9_Moore_2008 p.Gly284Val p.Gly284Val late infantile 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 late infantile 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 late infantile 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 late infantile 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 late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.154 CLN2_14_Moore_2008 p.Leu104* p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.155 CLN2_15_Moore_2008 p.Arg208* p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.156 CLN2_16_Moore_2008 p.Arg208* p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs                 
Pa-cln2.157 CLN2_17_Moore_2008 p.Arg208* p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.158 CLN2_18_Moore_2008 c.509-1G>C p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.159 CLN2_19_Moore_2008 c.509-1G>C p.Gly284Val late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.160 CLN2_20_Moore_2008 c.509-1G>C p.Arg208* late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.161 CLN2_21_Moore_2008 c.509-1G>C p.Arg208* late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln2.162 CLN2_22_Moore_2008 p.Gly284Val not identified late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.163 CLN2_23_Moore_2008 p.Gly284Val not identified late infantile n.a. n.a. Newfoundland Moore et al., 2008 18684116 sibs
Pa-cln2.164 1_Bessa_2008 c.887-10A>G c.887-10A>G juvenile 10 CV Portugal Bessa et al., 2008 17959406
Pa-cln2.165 1_Elleder_2008 p.Arg208* p.Val480Gly juvenile 3 CV Czech Republic Elleder et al., 2008 18283468
Pa-cln2.166 N4403_Kousi_2009 c.17+1G>C c.17+1G>C late infantile 3 n.a. Turkey Kousi et al., 2009 19201763
Pa-cln2.167 N1903_Kousi_2009 p.Glu402* p.Glu402* n.a. n.a. n.a. Turkey Kousi et al., 2009 19201763
Pa-cln2.379[1] 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.Gln66* c.887-10A>G c.89+4A>G juvenile 9 CV / FP Argentina Kohan et al., 2009 19793312 sibs                 
Pa-cln2.169 4_Kohan_2009 or 3_Noher de Halac_2005 p.Gln66* c.887-10A>G c.89+4A>G juvenile 9 CV / FP Argentina Kohan et al., 2009 19793312 sibs
Pa-cln2.170 5_Kohan_2009 or 4_Noher de Halac_2005 p.Gln66* c.887-10A>G c.89+4A>G juvenile 9 CV / FP Argentina Kohan et al., 2009 19793312 sibs
Pa-cln2.171 16CC_Kohan_2009 p.Arg208* p.Asp276Val late infantile 3.5 CV Argentina Kohan et al., 2009 19793312
Pa-cln2.172 70GAT_Kohan_2009 p.Asp276Val p.Asp276Val late infantile 3 CV Argentina Kohan et al., 2009 19793312
Pa-cln2.173 73CL_Kohan_2009 p.Asp276Val p.Asp276Val late infantile 3 CV Argentina Kohan et al., 2009 19793312
Pa-cln2.174 82VS_Kohan_2009 p.Leu104* p.Ala453Val c.687+32T>C late infantile 4 CV Argentina Kohan et al., 2009 19793312
Pa-cln2.175 1_Goldberg-Stern_2009 p.Arg259Valfs*17 p.Arg259Valfs*17 late infantile 3 n.a. Israel Arab Goldberg-Stern et al., 2009 19748052 sibs
Pa-cln2.176 2_Goldberg-Stern_2009 p.Arg259Valfs*17 p.Arg259Valfs*17 late infantile 3 n.a. Israel Arab Goldberg-Stern et al., 2009 19748052 sibs
Pa-cln2.177 II:2_Wang_2011 p.Val216Met c.1551+1G>A late infantile 3.5 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.Arg208* n.a. n.a. n.a. Portugal Kousi et al., 2012 21990111
Pa-cln2.183 CZR1_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.184 CZR2_Kousi_2011_novel p.Arg208* p.Tyr79* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.185 CZR4_Kousi_2011_novel p.Arg208* p.Arg208* 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.Arg208* p.Arg208* n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.188 CZR7_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.189 CZR8_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.190 CZR9_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.191 CZR10_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.192 CZR12_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Brazil Kousi et al., 2012 21990111
Pa-cln2.193 CZR13_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.194 CZR14_Kousi_2011_novel p.Arg208* p.Trp548Arg n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.195 CZR15_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.196 CZR17_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Czech Republic Kousi et al., 2012 21990111
Pa-cln2.197 CZR18_Kousi_2011_novel p.Arg208* p.Ser475Leu n.a. n.a. n.a. Hungary Kousi et al., 2012 21990111
Pa-cln2.198 CZR19_Kousi_2011_novel p.Arg208* c.509-1G>C n.a. n.a. n.a. Slovakia Kousi et al., 2012 21990111
Pa-cln2.199 CZR26_Kousi_2011_novel p.Arg208* p.Arg208* n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111
Pa-cln2.200 ITA3_Kousi_2011_novel p.Gln214* p.Gly77Arg late infantile n.a. CL/FP Italy Kousi et al., 2012 21990111
Pa-cln2.201 ITA4_Kousi_2011_novel p.Gln264* p.Gly77Arg late infantile n.a. CL/FP Italy Kousi et al., 2012 21990111
Pa-cln2.202 ITA5_Kousi_2011_novel p.Leu355Serfs*72 p.Gly77Arg late infantile 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