Gene Symbol CLN2/TPP1 Notes
Gene ID 1200 Variants are included on the basis that they occur in a patient and meet at least one of the following criteria
Chromosomal Location 11p15 1) if the allele frequency is known, it is <5%; 
Genomic RefSeqGene NG_008653.1 13696 bp 2) the molecular basis for the disease is equivocal; 
Transcript RefSeq NM_000391.3 3540 bp 3) they are indicated pathogenic or likely pathogenic on ClinVar; 
Protein RefSeq NP_000382.3 563 aa 4) reduction in TPP1 enzyme activity was reported
No. of mutations 129
No. of sequence variations 2 Recommended Mutation nomenclature followed (http://varnomen.hgvs.org/recommendations/general/). 
Polyphen and/or SIFT used to predict functional effects
No. of changes 131 Congenital - around birth; infantile (0.5-1.5 y); late infantile (2-4 y); juvenile (5-10 y), adult; SCAR7 = autosomal recessive spinocerebellar ataxia 7
Additional notes GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, Condensed
NA - not available or not applicable
Updated October 2018
Identifier Location Nucleotide change Amino acid change Type of Mutation - DNA additional mutation info Predicted functional effect in silico clinvar classification rs number contig position (GRCh38.p7) PMID Reference Original description Other notes Column2
cln2.001 Exon 06 c.622C>T p.(Arg208*) substitution Nonsense pathogenic rs119455955 6617040 10330339 Sleat et al., Am J Hum Genet; 1999, 
cln2.002 Exon 09 c.1093T>C p.(Cys365Arg) substitution Missense Probably damaging pathogenic rs119455953 6616057 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.003 Exon 09 c.1094G>A p.(Cys365Tyr) substitution Missense Probably damaging Pathogenic/likely pathogenic rs119455953 6616057 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.004 Intron 05 c.509-1G>C NA substitution splice acceptor variant pathogenic rs56144125 6617154 10330339 Sleat et al., Am J Hum Genet; 1999  g.3556G>C Described as p.(Phe169*) (Sleat) and p.(Val170Glyfs*29) (Sun et al.2012)
cln2.006 Exon 11 c.1340G>A p.(Arg447His) substitution Missense Probably damaging Pathogenic rs119455956 6615256 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.007 Intron 05 c.509-1G>A NA substitution splice acceptor variant pathogenic rs56144125 6617154 10330339 Sleat et al., Am J Hum Genet; 1999  g.3556G>A Described as splice defect / p.(Gly171Thrfs*5)
cln2.008  Exon 08 c.888_1066del p.His298Leufs*3 deletion frameshift NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.010 Exon 03 c.196C>T p.(Gln66*) substitution Nonsense Pathogenic rs759080581 6618809 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.011 Exon 03 c.225A>G p.(=) substitution cryptic splice acceptor variant potential activation of splicing NA NA 10330339 Sleat et al., Am J Hum Genet; 1999 g.1946A>G
cln2.012 Exon 03 c.229G>A p.(Gly77Arg) substitution Missense Probably damaging pathogenic rs121908195 6618776 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.013 Exon 04 c.377_387delTCCGACAAGCA p.(Ile126Argfs*8) deletion frameshift NA NA 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.014 Exon 04 c.379C>T p.(Arg127*) substitution Nonsense pathogenic rs756564767 6617627 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.015 Exon 07 c.860T>A p.(Ile287Asn) substitution Missense Probably damaging not provided rs121908196 6616687 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.016 Intron 07 c.887-18A>G NA substitution varies likely pathogenic rs935526225  6616521 10330339 Sleat et al., Am J Hum Genet; 1999  g.3556G>C Described as splice defect / frameshift / p.(Gly296delinsGlyLysLysLysAsnProGly)
cln2.017 Exon 08 c.972_979delCTATGGAG p.(Ser324Argfs) deletion frameshift likely pathogenic rs778232650 6616418 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.018 Exon 08 c.1027G>A p.(Glu343Lys) substitution Missense Probably damaging not provided rs121908197 6616363 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.019 Intron 08 c.1075+2T>G NA substitution splice acceptor variant most probably affecting splicing NA NA 6616313 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.020 Exon 10 c.1154T>A p.(Val385Asp) substitution Missense Probably damaging not provided rs121908198 6615554 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.021 Exon 10 c.1166G>A p.(Gly389Glu) substitution Missense Probably damaging pathogenic rs121908199 6615542 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.022 Exon 10 c.1266G>C p.(Gln422His) substitution Missense Probably damaging Pathogenic rs121908200  6615442 TPP1 Sleat et al., Am J Hum Genet; 1999
cln2.023 Exon 11 c.1361C>A p.(Ala454Glu) substitution Missense Probably damaging not provided rs121908201 6615235 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.024 Exon 11 c.1424C>T p.(Ser475Leu) substitution Missense Probably damaging not provided rs121908202 6615172 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.025 Intron 12 c.1552-1G>C NA substitution splice acceptor variant most probably affecting splicing NA rs1057516511 6614687 10330339 Sleat et al., Am J Hum Genet; 1999 g.6025G>C rs1057516511 G>A mutation also described: likely pathogenic
cln2.026 Exon 13 c.1595dupA p.(Gln534Profs*74) duplication frameshift NA NA 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.027 Exon 13 c.1678_1679delCT p.(Leu560Thrfs*47) deletion frameshift NA NA 10330339 Sleat et al., Am J Hum Genet; 1999
cln2.028 Exon 09 c.1107-1108delTG p.(Gly370Lysfs*32) deletion frameshift NA NA 23266810 Kohan et al., 2013, Gene 516:114-21 prediction using EMBOSS (EG)
cln2.029 Exon 08 c.1029G>C p.(Glu343Asp)  substitution Missense pathogenic rs886037833 6616361 26224725 Dy et al., 2015 Am Acad Neurol
cln2.030 Exon 08 c.887G>A p.(Gly296Asp) substitution missense Deleterious; possibly damaging  NA NA 27604308 Reid et al (2016) Brain
cln2.031 Exon 08 c.1052G>T p.(Gly351Val) substitution missense probably damaging NA NA NA pers comm from relative
cln2.033 Exon 04 c.299A>G p.(Gln100Arg) substitution missense Benign Benign/likely benign rs1800746 6617707 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 3004A>G
cln2.034 Exon 02 c.38T>C p.(Leu13Pro) substitution Missense possibly damaging  NA NA   Nickel, pers comm 2018
cln2.035 Exon 07 c.1049G>A p.(Arg350Gln) substitution Missense probably damaging  uncertain significance rs199866669   Nickel, pers comm 2018
cln2.036 Exon 07 c.731T>C p.(Met244Thr)  substitution Missense possibly damaging  NA NA   Nickel, pers comm 2018
cln2.037 Intron 10 c.1266+5G>A NA substitution splice donor variant most probably affecting splicing Conflicting rs1800753 6615437 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5276G>A
cln2.038 Exon 10 c.1261T>A  p.(Tyr421Asn) substitution Missense probably damaging  NA T>C change is rs1054736404 Nickel, pers comm 2018
cln2.039 Exon 08 c.959T>G  p.(Val320Gly) substitution Missense probably damaging  uncertain significance NA  no rs  Emily de los Reyes, USA
cln2.040 Exon 03 c.139C>G  p.(Leu47Val) substitution Missense benign  NA NA
cln2.041 Exon 06 c.616C>T p.(Arg206Cys) substitution Missense Probably damaging pathogenic rs28940573 6617046 10665500 Berry-Kravis et al., Ann Neurol, 2000
cln2.042 Exon 11 c.1376A>C p.(Tyr459Ser) substitution Missense likely pathogenic rs864309505 6615220 27518768 Bhavsar et al (2016) Meeting abstract
cln2.043 Exon 05 c.457T>C p.(Ser153Pro) substitution Missense Probably damaging NA NA ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999
cln2.044 Intron 08 c.1076-2A>G NA substitution splice acceptor variant most probably affecting splicing NA NA ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999
cln2.045 Exon 12 c.1525C>T p.(Gln509*) substitution Nonsense NA NA ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999
cln2.046 Exon 13 c.1611_1621delCTCTGGTCCTG p.(Cys537Trpfs*67) deletion frameshift NA NA ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999
cln2.047 Exon 08 c.1015C>T p.(Arg339Trp) substitution Missense Probably damaging pathogenic/likely pathogenic rs750428882 6616375 21990111 Kousi et al., Hum Mut; 2012
cln2.048 Exon 13 c.1644G>A p.(Trp548*) substitution Nonsense NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.049 Exon 06 c.605C>T p.(Pro202Leu) substitution Missense Probably damaging likely pathogenic rs121908205 6617057 11589012 Mole et al.,Eur J Pediatr Neurol.,2001 (Logan pers comm)
cln2.050 Intron 04 c.380+55G>A NA substitution Benign NA NA 11589012 Mole et al.,Eur J Pediatr Neurol.,2001 (Taschner pers comm)
cln2.051 Exon 04 c.357dupT p.(Leu120Serfs*18) duplication frameshift NA NA 11339651 Zhong et al., Genet Med, 2000
cln2.052 Exon 04 c.380G>A p.(Arg127Gln) substitution Missense Benign pathogenic rs121908204 6617626 11339651 Zhong et al., Genet Med, 2000
cln2.053 Exon 12 c.1547_1548delTT p.(Phe516*) deletion Nonsense NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.054 Exon 07 c.851G>T p.(Gly284Val) substitution Missense Probably damaging pathogenic rs119455957 6616696 11339651 Zhong et al., Genet Med, 2000
cln2.055  Exon 11 c.1284G>T p.(Lys428Asn) substitution Missense Benign NA NA 12414822 Ju et al., J Med Genet., 2002
cln2.056 Exon 11 c.1379G>A p.(Trp460*) substitution Nonsense Pathogenic/likely pathogenic rs786204753 6615217 11339651 Zhong et al., Genet Med, 2000
cln2.057 Exon 11 c.1417G>A p.(Gly473Arg) substitution Missense Probably damaging not provided rs121908203 6615179 11241479 Lam et al.,Am J Med Genet, 2001
cln2.058 Exon 13 c.1630C>T p.(Pro544Ser) substitution Missense Probably damaging not provided rs121908210 6614608 11339651 Zhong et al., Genet Med, 2000 not p.Ala555Pro as originally published
cln2.059 Exon 03 c.184_185delTC p.(Ser62Glyfs*25) deletion frameshift NA NA 11241479 Lam et al.,Am J Med Genet, 2001
cln2.060 Exon 08 c.1064T>C p.(Leu355Pro) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.061 Exon 05 c.481C>T  p.(Gln161*) substitution Nonsense NA NA   Raymond Wang, USA
cln2.062 Exon 07 c.713C>G p.(Ser238*) substitution Nonsense NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.063 Exon 07 c.857A>G p.(Asn286Ser) substitution Missense Possibly damaging Pathogenic rs119455958 6616690 12376936 Steinfeld et al.,Am J Med Genet.,2002
cln2.064 Exon 08 c.1057A>C p.(Thr353Pro) substitution Missense Probably damaging not provided rs121908206 6616333 12376936 Steinfeld et al.,Am J Med Genet.,2002
cln2.065 Exon 11 c.1351G>T p.(Asp451Tyr) substitution Missense probably damaging  NA NA
cln2.066 Exon 12 c.1442T>G p.(Phe481Cys) substitution Missense Probably damaging NA NA 12414822 Ju et al., J Med Genet., 2002
cln2.067 Exon 07 c.829G>A p.(Val277Met) substitution Missense Probably damaging not provided rs121908207 6616718 12414822 Ju et al., J Med Genet., 2002
cln2.068 Exon 07 c.833A>C p.(Gln278Pro) substitution Missense Probably damaging NA NA 12414822 Ju et al., J Med Genet., 2002
cln2.069 Exon 07 NA uncharacterised 1-bp deletion deletion NA NA NA 12414822 Ju et al., J Med Genet., 2002
cln2.070 Exon 08 c.1058C>A  p.(Thr353Asn) substitution Missense probably damaging  likely pathogenic rs145966505     
cln2.073 Exon 08 c.987_989delGGAinsCTC p.(Glu329_Asp330delinsAspSer) deletion insertion deletion insertion NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.074 Exon 07 c.797G>A p.(Arg266Gln) substitution Missense Benign uncertain rs757953998 6616750 21990111 Kousi et al., Hum Mut; 2012 
cln2.075 Exon 06 c.646G>A p.(Val216Met) substitution Missense Probably damaging NA NA 20820830 Wang et al, 2011, Neurogenetics epub 7 Sept  
cln2.076 Intron 02 c.89+5G>C NA substitution splice donor variant Most probably affecting splicing Pathogenic rs746085696 6619191 21990111 Kousi et al., Hum Mut; 2012
cln2.077 Exon 08 c.1016G>A p.(Arg339Gln) substitution Missense Probably damaging conflicting rs765380155 6616374 21990111 Kousi et al., Hum Mut; 2012 
cln2.078 Exon 11 NA p.(Val426Val) NA p.(=) Benign NA NA NA Noher de Halac et al.   2005 . In: Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America - an update . 
cln2.079 Intron 07 c.887-10A>G p.(Gly296delinsGluAsnProGly) substitution deletion insertion No significant splicing motif alteration detected conflicting rs755445790 6616513 NA Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005
cln2.080 Exon 12 c.1439T>G p.(Val480Gly) substitution Missense Probably damaging NA NA 18283468 Elleder et al., Acta Neuropathol, 2008
cln2.081 Exon 07 c.775delC p.(Arg259Valfs*17) deletion frameshift NA NA 19748052 Goldberg-Stern et al., Paed Neurol; 2009
cln2.082 Exon 11 c.1424delC p.(Ser475Trpfs*13) deletion frameshift NA NA 18684116 Moore et al., Clin Genet, 2008
cln2.083 Exon 04 c.311T>A p.(Leu104*) substitution Nonsense pathogenic rs202189057 6617695 20960655 Kohan et al., Human Genet, 2008
cln2.084 Intron 01 c.17+1G>C NA substitution splice donor variant most probably affecting splicing NA NA 19201763 Kousi et al., Brain, 2009
cln2.085 Exon 10 c.1204G>T p.(Glu402*) substitution Nonsense NA NA 19201763 Kousi et al., Brain, 2009
cln2.086 Exon 12 c.1444G>C p.(Gly482Arg) substitution Missense Probably damaging not provided rs121908208 6614973 19201763 Kousi et al., Brain, 2009
cln2.087 Exon 04 c.237C>G p.(Tyr79*) substitution Nonsense NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.088 Exon 13 c.1642T>C p.(Trp548Arg) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.089 Exon 07 c.827A>T p.(Asp276Val) substitution Missense Probably damaging Pathogenic rs763162812 6616720 23266810 Kohan et al., Clin Genet, 2009; Kohan et al., 2013, Gene 516:114-21
cln2.090 Exon 11 c.1358C>T p.(Ala453Val) substitution Missense Probably damaging NA NA 23266810 Kohan et al., Clin Genet, 2009
cln2.091 Exon 06 c.617G>A p.(Arg206His) substitution Missense Probably damaging likely pathogenic rs121908209 6617045 21990111 Kousi et al., Hum Mut; 2012
cln2.092 Exon 07 c.843G>T p.(Met281Ile) substitution Missense Possibly damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.093 Exon 08 c.984_986delTGA p.(Asp328del) deletion deletion NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.095 Intron 12 c.1551+1G>A NA substitution splice acceptor variant likely pathogenic rs786204553  6614865 20820830 Wang et al, 2011, Neurogenetics epub 7 Sept
cln2.096 Intron 12 c.1551+5_1551+6delGTinsTA NA deletion insertion splice donor variant most probably affecting splicing NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.101 Intron 01 c.18-3C>G NA substitution splice acceptor variant potential alteration of splicing NA NA 6619270 21990111 Kousi et al., Hum Mut; 2012
cln2.102 Exon 02 c.37dupC p.(Leu13Profs*32) duplication  frameshift NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.103 Exon 03 c.184T>A p.(Ser62Thr) substitution Missense Benign NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.104 Intron 04 c.381-2A>G NA substitution splice acceptor variant likely pathogenic NA 6617430 11339651 Zhong et al., Genet Med, 2000
cln2.105 Intron 04 c.381-1G>C NA substitution splice acceptor variant most probably affecting splicing NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.106 Exon 05 c.497dupA p.(His166Glnfs*22) duplication frameshift NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.107 Exon 06 c.625T>C p.(Tyr209His) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.108 Exon 06 c.640C>T p.(Gln214*) substitution Nonsense pathogenic rs752164603  21990111 Kousi et al., Hum Mut; 2012
cln2.109 Exon 07 c.790C>T p.(Gln264*) substitution Nonsense NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.110 Exon 07 c.822_837del p.(Leu275*) deletion Nonsense NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.111 Exon 08 c.1062delG p.(Leu355Serfs*72) deletion frameshift NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.112 Intron 08 c.1075+2T>C NA substitution splice acceptor variant most probably affecting splicing NA NA 6616313 21990111 Kousi et al., Hum Mut; 2012
cln2.113 Exon 10 c.1146C>G p.(Ser382Arg) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.114 Exon 11 c.1343C>T p.(Ala448Val) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.115 Intron 11 c.1425+1G>C NA substitution splice acceptor variant most probably affecting splicing NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.117 Exon 12 c.1497delT p.(Gly501Alafs*18) deletion frameshift pathogenic no rs 6614920 21990111 Kousi et al., Hum Mut; 2012
cln2.118 Exon 12 c.1501G>T p.(Gly501Cys) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.119 Exon 12 c.1510A>T p.(Asn504Tyr) substitution Missense Probably damaging NA NA 21990111 Kousi et al., Hum Mut; 2012
cln2.122 uncharacterised 5' rearrangement resulting in insertion of intron sequences and frameshift NA NA frameshift NA NA 10356316 Hartikainen et al., Mol Genet Metab;1999
cln2.123 Intron 02 c.89+4A>G NA substitution splice acceptor variant potential alteration of splicing NA NA 6619192 NA         Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005
cln2.124 Exon 05 c.409-410insGCTG p.(Glu139Glyfs*1) insertion frameshift NA NA 22245569 Chang et al, 2012, Brain Dev
cln2.125 exon 12 c.1546-1547insTTCA p.(Asp517Hisfs*1) insertion frameshift NA NA 22245569 Chang et al, 2012, Brain Dev
cln2.126 Exon 03 c.229G>T[1] p.(Gly77*) substitution Nonsense NA NA 22245569 Chang et al, 2012, Brain Dev
cln2.127 Intron 04 c.381-17_381-4del[2] NA deletion no significant splicing motif alteration Probably no impact on splicing NA NA 22245569 Chang et al, 2012, Brain Dev IVS4-17~-4delTGTTCTCTGACCTC
cln2.128 Exon 06 c.650G>T p.(Gly217Asp) substitution Missense Probably damaging NA NA 22245569 Chang et al, 2012, Brain Dev
cln2.129 Exon 03 c.177-180delAAGA p.(Glu59Aspfs*20) deletion frameshift NA NA 22245569 Chang et al, 2012, Brain Dev
cln2.130 Exon 11 c.1397T>G p.(Val466Gly) substitution Missense Pathogenic rs398122959 6615199 23418007 Sun et al. Hum Mutat 2013
cln2.131 Intron 08 c.1076-2A>T NA substitution splice acceptor variant most probably affecting splicing NA NA NA A. Simonati pers comm      
cln2.132 exon 13 NA p.(Gly535Arg) NA Missense Probably damaging NA NA 23266810 Kohan et al., 2013, Gene 516:114-21
cln2.133 exon 11 NA p.(Ala453Asp) NA Missense Probably damaging NA NA 23266810 Kohan et al., 2013, Gene 516:114-21
cln2.134 Exon 07 c.824T>C p.(Leu275Pro) substitution Missense Probably damaging NA NA 23768618 Shen et al. 2013 Reprod BioMed Online
cln2.135 Exon 04 c.337dup p.(Ser113Phefs*55) duplication frameshift NA NA NA R. Williams pers comm
cln2.136 Exon 10 c.1239_1240ins6 p.(Ser413_Asn414ins2) insertion insertion NA NA NA R. Williams pers comm
cln2.137 Intron 03 c.229+3G>C NA substitution splice acceptor variant most probably affecting splicing NA NA NA R. Williams pers comm
cln2.138 Exon 12 c.1467delT p.(Asn489Lysfs*29)  deletion frameshift NA NA NA R. Williams pers comm
cln2.139 Exon 07 c.1048C>T p.(Arg350Trp) substitution Missense Probably damaging NA NA NA R. Williams pers comm
cln2.140 Intron 02 c.89+1G>A NA substitution splice acceptor variant most probably affecting splicing NA NA 27343025 Saini et al (2016) Ped. Neurol.
cln2.141 intron 12 c.1551+1G>T NA substitution splice donor variant most probably affecting splicing NA NA 26032578 Yu et al. 2015 Neurol. Sci.
cln2.142 exon 13 c.1613C>A p.(Ser538Tyr) substitution missense Probably damaging NA NA 26032578 Yu et al. 2015 Neurol. Sci.
cln2.143 Exon 13 c.1626G>A p.(Trp542*) substitution nonsense NA NA NA Carrie Fagerstrom, pers communication 2015
cln2.144 Exon 10 c.1226G>T p.(Gly409Val) substitution missense Probably damaging NA NA NA Carrie Fagerstrom, pers communication 2015
 
 

[1]
Emily Gardner:
splice junction amino acid
[2]
EG: Up to date nomenclature provided by HGVS