Unique variants in the CLN8 gene

An NCL gene variant database
Information The variants shown are described using the NM_018941.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 - del 54Kb r.(?) p.? - likely pathogenic g.? - del 54 Kb - RP1_000000 - R. Williams pers comm, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - del 8p23.3 r.(?) p.? - likely pathogenic g.? - del 8p23.3 235 Kb - RP1_000000 maternal 8p23.3 235 Kb deletion R. Williams pers comm, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.(?_-305)_*144635289del r.0 p.0 - likely pathogenic g.? - 8p23.3 terminal del - RP1_000000 de novo 8p23.3 terminal deletion PubMed: Allen 2012, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
?/. 1 - c.-124+1G>C r.spl? p.? - VUS g.1712052G>C - CLN8(NM_018941.3):c.-124+1G>C - CLN8_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-123-4T>C r.spl? p.? - benign, likely benign g.1719094T>C g.1770928T>C CLN8(NM_018941.3):c.-123-4T>C - CLN8_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 2 c.1A>C r.(?) p.(Met1?) - likely pathogenic g.1719221A>C g.1771055A>C - - CLN8_000101 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.46C>A r.(?) p.(Leu16Met) - VUS g.1719266C>A - CLN8(NM_018941.3):c.46C>A (p.L16M) - CLN8_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.[46C>A;509C>T] r.[46c>a; 509c>u] p.[Leu16Met;Thr170Met] - likely pathogenic g.[1719266C>A;1719729C>T] - p.[Leu16Met;Thr170Met] - CLN8_000080 siblings; p.Leu16Met predicted benign PubMed: Ranta 2004, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
./., ?/. 2 - c.53A>T r.(?) p.(Tyr18Phe) - VUS g.1719273A>T g.1771107A>T CLN8(NM_018941.3):c.53A>T (p.Y18F) - CLN8_000081 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs142104002 CLASSIFICATION record, Germline - 1/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili
+?/. 2 - c.66del r.(?) p.(Ile23SerfsTer5) - likely pathogenic g.1719286del g.1771120del p.Ile23SerfsX5 - CLN8_000079 both het with different mutations PubMed: Cannelli 2006, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+/., +?/. 24 - c.70C>G r.(70c>g), r.(?) p.(Arg24Gly) - likely pathogenic, pathogenic g.1719290C>G g.1771124C>G CLN8(NM_018941.3):c.70C>G (p.R24G), p.Arg24Gly - CLN8_000056 Finnish patient: In association with p.Gly237Arg = EPMR or even milder, 2 more items PubMed: Ranta 1999, copied from {DB:CNL}, PubMed: Siintola 2006a, copied from {DB:CNL} - rs104894064 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+?/. 1 - c.88del r.(?) p.(Ala30Leufs*20) - likely pathogenic g.1719308del g.1771142del p.Ala30LeufsX20 - CLN8_000057 - PubMed: Ranta 2004, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.88G>C r.(88g>c) p.(Ala30Pro) - likely pathogenic g.1719308G>C g.1771142G>C p.Ala30Pro - CLN8_000058 - PubMed: Cannelli 2006, copied from {DB:CNL} - rs137852883 Germline - - - - - Johan den Dunnen
-?/. 1 - c.111C>T r.(?) p.(Gly37=) - likely benign g.1719331C>T - CLN8(NM_018941.3):c.111C>T (p.G37=) - CLN8_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.143C>G r.(?) p.(Ser48Cys) - VUS g.1719363C>G - CLN8(NM_018941.3):c.143C>G (p.S48C) - CLN8_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 2 c.157dup r.(?) p.(Tyr53Leufs*65) ACMG likely pathogenic g.1719377dup - - - CLN8_000096 - - - - Germline - - - - - Corina-Marcela Rus
+?/. 1 - c.181_183del r.(?) p.(Lys61del) - likely pathogenic g.1719401_1719403del g.1771235_1771237del p.Lys61del - CLN8_000059 Maternal Uniparental Disomy PubMed: Vantaggiato 2009, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 2 c.208C>T r.(?) p.(Arg70Cys) - likely pathogenic, VUS g.1719428C>T g.1771262C>T c.208C>T - CLN8_000060 - A. Simonati, pers comm, copied from {DB:CNL}, PubMed: Ganapathy 2019 ClinVar-RCV000201947.1 rs765097897 Germline - - - - - Johan den Dunnen
+?/. 3 - c.209G>A r.(209g>a) p.(Arg70His) - likely pathogenic g.1719429G>A g.1771263G>A p.Arg70His - CLN8_000061 - PubMed: Kousi 2011, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.227A>G r.(227a>g) p.(Gln76Arg) - likely pathogenic g.1719447A>G g.1771281A>G p.Gln76Arg - CLN8_000062 - PubMed: Kousi 2011, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
-/. 1 - c.274C>T r.(?) p.(His92Tyr) - benign g.1719494C>T g.1771328C>T CLN8(NM_018941.3):c.274C>T (p.H92Y) - CLN8_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 2 c.303C>G r.(?) p.(Asn101Lys) - VUS g.1719523C>G g.1771357C>G - - CLN8_000102 - 0 - rs755831055 Germline - - - - - LOVD
-?/. 1 - c.318C>T r.(?) p.(His106=) - likely benign g.1719538C>T g.1771372C>T CLN8(NM_018941.3):c.318C>T (p.H106=) - CLN8_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.320T>G r.(320u>g) p.(Ile107Ser) - likely pathogenic g.1719540T>G g.1771374T>G p.Ile107Ser - CLN8_000063 - PubMed: Kousi 2011, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.320+8C>T r.(=) p.(=) - likely pathogenic g.1719548C>T g.1771382C>T CLN5: c.320+8C>T - CLN8_000064 1 more item PubMed: Kousi 2011, copied from {DB:CNL} - rs9565308 Germline - - - - - Johan den Dunnen
+?/., ?/. 4 - c.374A>G r.(374a>g), r.(?) p.(Asn125Ser) - likely pathogenic, VUS g.1719594A>G g.1771428A>G CLN8(NM_018941.3):c.374A>G (p.N125S), p.Asn125Ser - CLN8_000025 VKGL data sharing initiative Nederland PubMed: Kousi 2011, copied from {DB:CNL} - rs142269885 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.406G>T r.(?) p.(Val136Phe) - VUS g.1719626G>T g.1771460G>T - - CLN8_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.415C>T r.(415c>u) p.(His139Tyr) - benign g.1719635C>T g.1771469C>T p.His139Tyr - CLN8_000065 - PubMed: Kousi 2011, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.420C>G r.(?) p.(Leu140=) - likely benign g.1719640C>G g.1771474C>G CLN8(NM_018941.3):c.420C>G (p.L140=) - CLN8_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 - c.470A>G r.(470a>g), r.(?) p.(His157Arg) - likely pathogenic, pathogenic g.1719690A>G g.1771524A>G CLN8(NM_018941.3):c.470A>G (p.H157R), p.His157Arg - CLN8_000030 VKGL data sharing initiative Nederland PubMed: Kousi 2009, copied from {DB:CNL} - rs149308952 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/., +?/. 9 - c.473A>G r.(473a>g), r.(?) p.(Tyr158Cys) - likely pathogenic, pathogenic g.1719693A>G g.1771527A>G c.473A>G, p.(Tyr158Cys), p.Tyr158Cys - CLN8_000066 homozygous, siblings A. Dobbie, pers comm., copied from {DB:CNL}, PubMed: Cannelli 2006, copied from {DB:CNL}, 2 more items - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.543+7G>A r.(=) p.(=) - benign g.1719770G>A g.1771604G>A CLN8(NM_018941.3):c.543+7G>A - CLN8_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 2 - c.544-2566_590del2613 r.0 p.0 - likely pathogenic g.1725850_1728462del2613 g.1777684_1780296del2613 p.Ala182AspfsX49 - CLN8_000067 1 more item PubMed: Reinhardt 2010, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.546G>A r.(?) p.(Ala182=) - likely benign g.1728418G>A g.1780252G>A CLN8(NM_018941.3):c.546G>A (p.A182=) - CLN8_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.562_563del r.(?) p.(Leu188Valfs*58) - likely pathogenic g.1728434_1728435del g.1780268_1780269del p.Leu188ValfsX58 - CLN8_000068 - PubMed: Allen 2012, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.581A>G r.(581a>g) p.(Gln194Arg) - likely pathogenic g.1728453A>G g.1780287A>G p.Gln194Arg - CLN8_000069 Slightly more severe phenotype PubMed: Cannelli 2006, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+/., +?/. 9 - c.610C>T r.(610c>u), r.(?) p.(Arg204Cys) - likely pathogenic, pathogenic g.1728482C>T g.1780316C>T NM_018941.3:c.610C>T; p.Arg204Cys, p.Arg204Cys - CLN8_000070 - PubMed: Kousi 2011, copied from {DB:CNL}, PubMed: Nair 2018, PubMed: Ranta 2004, copied from {DB:CNL} - rs104894060 Germline, Unknown ? - - - - Johan den Dunnen
+/. 1 - c.611G>T r.(611g>u) p.(Arg204Leu) - pathogenic g.1728483G>T g.1780317G>T p.Arg204Leu - CLN8_000071 - PubMed: Reinhardt 2010, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.637_639del r.(?) p.(Trp213del) - likely pathogenic g.1728509_1728511del g.1780343_1780345del p.Trp213del - CLN8_000072 - PubMed: Kousi 2011, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.661G>A r.(661g>a), r.(?) p.(Gly221Ser) - benign, likely benign g.1728533G>A g.1780367G>A CLN8(NM_018941.3):c.661G>A (p.G221S), p.Gly221Ser - CLN8_000047 VKGL data sharing initiative Nederland PubMed: Kousi 2011, copied from {DB:CNL} - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
+?/., -?/. 3 - c.685C>G r.(685c>g), r.(?) p.(Pro229Ala) - likely benign, likely pathogenic g.1728557C>G g.1780391C>G CLN8(NM_018941.3):c.685C>G (p.P229A), p.Pro229Ala - CLN8_000049 VKGL data sharing initiative Nederland PubMed: Kousi 2011, copied from {DB:CNL} - rs150047904 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
+?/. 7 - c.709G>A r.(709g>a) p.(Gly237Arg) - likely pathogenic g.1728581G>A g.1780415G>A p.Gly237Arg - CLN8_000073 Finnish patient: In association with c.70C>G = EPMR or even milder PubMed: Kousi 2009, copied from {DB:CNL}, PubMed: Kousi 2011, copied from {DB:CNL}, 2 more items - - Germline - - - - - Johan den Dunnen
?/. 1 - c.712C>G r.(?) p.(Leu238Val) - VUS g.1728584C>G g.1780418C>G - - CLN8_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.716C>T r.(?) p.(Ala239Val) - likely benign g.1728588C>T g.1780422C>T CLN8(NM_018941.3):c.716C>T (p.A239V) - CLN8_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.725C>T r.(?) p.(Thr242Met) - VUS g.1728597C>T g.1780431C>T - - CLN8_000094 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs138821993 Germline - 1/2795 individuals, 11/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.728T>C r.(?) p.(Leu243Pro) - likely pathogenic g.1728600T>C g.1780434T>C c.728T>C - CLN8_000074 - R. Williams pers comm, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.763C>T r.(?) p.(Gln255*) - likely pathogenic g.1728635C>T g.1780469C>T c.763C>T - CLN8_000075 - R. Williams pers comm, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 3 - c.766C>G r.(766c>g) p.(Gln256Glu) - likely pathogenic g.1728638C>G g.1780472C>G p.Gln256Glu - CLN8_000076 Different disease course in same extended family PubMed: Mahajnah and Zelnik 2012, copied from {DB:CNL}, PubMed: Zelnik 2007, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
+?/. 1 3 c.766C>T r.(?) p.(Gln256*) ACMG likely pathogenic g.1728638C>T - - - CLN8_000095 - - - - Germline - - - - - Corina-Marcela Rus
-/., -?/. 2 - c.777T>C r.(?) p.(Asn259=) - benign, likely benign g.1728649T>C g.1780483T>C CLN8(NM_018941.3):c.777T>C (p.N259=) - CLN8_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 - c.779C>T r.(?) p.(Pro260Leu) - VUS g.1728651C>T g.1780485C>T CLN8(NM_018941.3):c.779C>T (p.P260L) - CLN8_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.781G>A r.(?) p.(Val261Met) - VUS g.1728653G>A g.1780487G>A - - CLN8_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 6 - c.789G>C r.(789g>c) p.(Trp263Cys) - likely pathogenic g.1728661G>C g.1780495G>C p.Trp263Cys - CLN8_000077 (later age of onset and protracted) PubMed: Kousi 2011, copied from {DB:CNL}, PubMed: Ranta 2004, copied from {DB:CNL} - rs28940569 Germline - - - - - Johan den Dunnen
-/., -?/., ?/. 3 - c.806A>T r.(806a>u), r.(?) p.(Glu269Val) - benign, likely benign, VUS g.1728678A>T g.1780512A>T CLN8(NM_018941.3):c.806A>T (p.E269V), p.Glu269Val - CLN8_000055 VKGL data sharing initiative Nederland PubMed: Kousi 2011, copied from {DB:CNL} - rs139003032 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.1497delT r.(?) p.Gly501AlafsX18 - likely pathogenic g.1729369delT g.1781203delT CLN2: p.Gly501AlafsX18 (het) - CLN8_000078 1 more item PubMed: Kousi 2011, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
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