All transcript variants in gene CLN3

An NCL gene variant database
Information The variants shown are described using the NM_001042432.1 transcript reference sequence.

597 entries on 6 pages. Showing entries 1 - 100.
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Effect     

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     
./. - c.-3385420_*1305686dup - - - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
./. - c.-828981_*6958630del r.0? p.0? - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.-4594C>T r.(?) p.(=) - likely benign g.28507858G>A g.28496537G>A APOBR(NM_018690.3):c.1496G>A (p.(Gly499Glu)) - CLN3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3558C>T r.(?) p.(=) - likely benign g.28506822G>A g.28495501G>A APOBR(NM_018690.3):c.460G>A (p.(Gly154Ser)) - CLN3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.-1101C>T r.(=) p.(=) - pathogenic g.28504365G>A g.28493044G>A c.1-1101C>T; polymorphism - CLN3_000079 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+?/. 1_2 c.-359_46del r.? p.? ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - 0 - Corina-Marcela Rus
+?/. 1_2 c.-359_46del r.? p.? ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - 0 - Corina-Marcela Rus
+/. - c.0 r.0 p.0 - pathogenic g.? - not identified - CRYM_000000 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. - c.0 r.0 p.0 - pathogenic g.? - 1.7 Mb deletion - CRYM_000000 hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3 PubMed: Pebrel-Richard 2014, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1A>C r.(1a>c) p.0? - pathogenic g.28503080T>G g.28491759T>G p.Met1Leu - CLN3_000078 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-/. - c.45G>A r.(?) p.(Glu15=) - benign g.28503036C>T g.28491715C>T CLN3(NM_001042432.1):c.45G>A (p.E15=) - CLN3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.45G>A r.(?) p.(Glu15=) - likely benign g.28503036C>T g.28491715C>T CLN3(NM_001042432.1):c.45G>A (p.E15=) - CLN3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.45G>A r.(?) p.(Glu15=) - likely benign g.28503036C>T g.28491715C>T CLN3(NM_001042432.1):c.45G>A (p.E15=) - CLN3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 c.49G>T r.(49g>u) p.(Glu17*) - pathogenic g.28502879C>A g.28491558C>A p.Glu17X - CLN3_000077 - PubMed: Kwon 2005, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.105G>A r.(105g>a) p.(Trp35*) - pathogenic g.28502823C>T g.28491502C>T p.Trp35X - CLN3_000076 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.105G>A r.(105g>a) p.(Trp35*) - pathogenic g.28502823C>T g.28491502C>T p.Trp35X - CLN3_000076 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.125+1G>C r.spl? p.? - pathogenic g.28502802C>G g.28491481C>G c.125+1G>C - CLN3_000075 (in Pas with blindess only ~60y) PubMed: Wang 2014, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.125+1G>C r.spl? p.? - pathogenic g.28502802C>G g.28491481C>G c.125+1G>C - CLN3_000075 (in Pas with blindess only ~60y) PubMed: Wang 2014, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.125+5G>A r.spl? p.? - pathogenic g.28502798C>T g.28491477C>T c.125+5G>A - CLN3_000074 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? - pathogenic g.28500708C>T g.28489387C>T c.126-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? - pathogenic g.28500708C>T g.28489387C>T c.125-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? - pathogenic g.28500708C>T g.28489387C>T c.126-1G>A - CLN3_000073 - PubMed: Mole 2001, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? - pathogenic g.28500708C>T g.28489387C>T c.126-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-/. - c.174C>T r.(?) p.(Ala58=) - benign g.28500659G>A g.28489338G>A CLN3(NM_001042432.1):c.174C>T (p.A58=) - CLN3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.206C>T r.(?) p.(Ser69Leu) - likely benign g.28500627G>A g.28489306G>A CLN3(NM_001042432.1):c.206C>T (p.S69L) - CLN3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.214C>T r.(214c>u) p.(Gln72*) - pathogenic g.28500619G>A g.28489298G>A p.Gln72X - CLN3_000072 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-/. - c.222T>C r.(?) p.(His74=) - benign g.28500611A>G g.28489290A>G CLN3(NM_001042432.1):c.222T>C (p.H74=), CLN3(NM_001286105.1):c.2T>C (p.M1?) - CLN3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.222T>C r.(?) p.(His74=) - likely benign g.28500611A>G g.28489290A>G CLN3(NM_001042432.1):c.222T>C (p.H74=), CLN3(NM_001286105.1):c.2T>C (p.M1?) - CLN3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.222T>C r.(?) p.(His74=) - likely benign g.28500611A>G g.28489290A>G CLN3(NM_001042432.1):c.222T>C (p.H74=), CLN3(NM_001286105.1):c.2T>C (p.M1?) - CLN3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1i c.222+2T>G r.spl? p.? - pathogenic g.28500609A>C g.28489288A>C originally IVS3+2T>G - CLN3_000071 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.222+5G>C r.spl? p.? - pathogenic g.28500606C>G g.28489285C>G c.222+5G>C - CLN3_000070 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-/. - c.223-8C>T r.(=) p.(=) - benign g.28499991G>A g.28488670G>A CLN3(NM_001042432.1):c.223-8C>T - CLN3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 1 c.233dup r.(?) p.(Thr80Asnfs*12) - pathogenic g.28499974dup g.28488653dup p.Thr80AsnfsX12 - CLN3_000068 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-/. - c.238A>T r.(?) p.(Thr80Ser) - benign g.28499968T>A g.28488647T>A CLN3(NM_001042432.1):c.238A>T (p.T80S) - CLN3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.240G>A r.(?) p.(Thr80=) - benign g.28499966C>T g.28488645C>T CLN3(NM_001042432.1):c.240G>A (p.T80=, p.=), CLN3(NM_001286105.2):c.20G>A (p.R7H) - CLN3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.240G>A r.(?) p.(Thr80=) - likely benign g.28499966C>T g.28488645C>T CLN3(NM_001042432.1):c.240G>A (p.T80=, p.=), CLN3(NM_001286105.2):c.20G>A (p.R7H) - CLN3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.240G>A r.(?) p.(Thr80=) - likely benign g.28499966C>T g.28488645C>T CLN3(NM_001042432.1):c.240G>A (p.T80=, p.=), CLN3(NM_001286105.2):c.20G>A (p.R7H) - CLN3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.242C>T r.(?) p.(Pro81Leu) - VUS g.28499964G>A g.28488643G>A CLN3(NM_001042432.1):c.242C>T (p.P81L), CLN3(NM_001286105.1):c.22C>T (p.R8*), CLN3(NM_001286105.2):c.22C>T (p.R8*) - CLN3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.242C>T r.(?) p.(Pro81Leu) - VUS g.28499964G>A g.28488643G>A CLN3(NM_001042432.1):c.242C>T (p.P81L), CLN3(NM_001286105.1):c.22C>T (p.R8*), CLN3(NM_001286105.2):c.22C>T (p.R8*) - CLN3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.242C>T r.(?) p.(Pro81Leu) - VUS g.28499964G>A - CLN3(NM_001042432.1):c.242C>T (p.P81L), CLN3(NM_001286105.1):c.22C>T (p.R8*), CLN3(NM_001286105.2):c.22C>T (p.R8*) - CLN3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.243G>A r.(?) p.(Pro81=) - likely benign g.28499963C>T g.28488642C>T CLN3(NM_001042432.1):c.243G>A (p.P81=) - CLN3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.265C>T r.(265c>u) p.(Arg89*) - pathogenic g.28499941G>A g.28488620G>A p.Arg89X - CLN3_000066 - PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.265C>T r.(265c>u) p.(Arg89*) - pathogenic g.28499941G>A g.28488620G>A p.Arg89X - CLN3_000066 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.266G>A r.(?) p.(Arg89Gln) - likely pathogenic (recessive) g.28499940C>T g.28488619C>T - - CLN3_000098 - - - - Germline - - - 0 - Juan Carlos Zenteno
?/. - c.270T>C r.(?) p.(Phe90=) - VUS g.28499936A>G g.28488615A>G CLN3(NM_001042432.1):c.270T>C (p.F90=), CLN3(NM_001286105.1):c.50T>C (p.L17S) - CLN3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.270T>C r.(?) p.(Phe90=) - likely benign g.28499936A>G g.28488615A>G CLN3(NM_001042432.1):c.270T>C (p.F90=), CLN3(NM_001286105.1):c.50T>C (p.L17S) - CLN3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 c.294-80G>A r.(=) p.(=) - pathogenic g.28499992C>T g.28488671C>T originally IVS-81G>A - CLN3_000069 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Mole 2001, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.294-80G>A r.(=) p.(=) - pathogenic g.28499992C>T g.28488671C>T originally IVS-81G>A - CLN3_000069 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.294-58G>A r.(=) p.(=) - pathogenic g.28499970C>T g.28488649C>T orignally IVS4-59G>A - CLN3_000067 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Mole 2001, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.294-58G>A r.(=) p.(=) - pathogenic g.28499970C>T g.28488649C>T orignally IVS4-59G>A - CLN3_000067 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-/. - c.295-59G>A r.(=) p.(=) - benign g.28499121C>T g.28487800C>T CLN3(NM_001042432.1):c.295-59G>A - CLN3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. 1 c.302T>C r.(302u>c p.(Leu101Pro) - likely pathogenic g.28499055A>G g.28487734A>G p.Leu101Pro - CLN3_000065 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
-?/. - c.313A>G r.(?) p.(Ile105Val) - likely benign g.28499044T>C g.28487723T>C - - CLN3_000119 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs11552531 Germline - 5/2793 individuals - 0 - Mohammed Faruq
-/. - c.327C>T r.(?) p.(Leu109=) - benign g.28499030G>A g.28487709G>A CLN3(NM_001042432.1):c.327C>T (p.L109=) - CLN3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 c.370dup r.(?) p.(Tyr124Leufs*36) - pathogenic g.28498987dup g.28487666dup p.Tyr124LeufsX36 - CLN3_000064 - PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.370dup r.(?) p.(Tyr124Leufs*36) - pathogenic g.28498987dup g.28487666dup 370insT - CLN3_000064 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.374G>A r.[374g>a, spl?] p.[Ser125Asn, ?] - pathogenic g.28498983C>T g.28487662C>T p.Ser125Asn - CLN3_000063 formerly p.Ser125Asn / splice-site affecting PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.374G>A r.[374g>a, spl?] p.[Ser125Asn, ?] - pathogenic g.28498983C>T g.28487662C>T p.Ser125Asn - CLN3_000063 formerly p.Ser125Asn / splice-site affecting PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.378_379dup r.(?) p.(Arg127Profs*55) - pathogenic g.28498861_28498862dup g.28487540_28487541dup p.Arg127Profs*55 - CLN3_000062 formerly c.374-375insCC in Munroe et al 1997, and described as p.Val128GlyfsX54 in Kousi et al 2012, PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.379del r.(?) p.(Arg127Glyfs*54) - pathogenic g.28498862del g.28487541del p.Arg127GlyfsX54 - CLN3_000061 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.391A>C r.(391a>c) p.(Ser131Arg) - pathogenic g.28498846T>G g.28487525T>G p.(Ser131Arg) - CLN3_000060 - PubMed: Wang 2014, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.391A>C r.(391a>c) p.(Ser131Arg) - pathogenic g.28498846T>G g.28487525T>G p.(Ser131Arg) - CLN3_000060 - PubMed: Wang 2014, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. - c.391_392del r.(?) p.(Ser131TrpfsTer28) - pathogenic g.28498845_28498846del g.28487524_28487525del - - CLN3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.392G>A r.(?) p.(Ser131Asn) - VUS g.28498845C>T g.28487524C>T CLN3(NM_001042432.1):c.392G>A (p.S131N) - CLN3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.400T>C r.(400u>c) p.(Cys134Arg) - likely pathogenic g.28498837A>G g.28487516A>G p.Cys134Arg - CLN3_000059 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. - c.413del r.(?) p.(Ser138ThrfsTer43) - pathogenic g.28498824del g.28487503del - - CLN3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.423_424del r.(?) p.(Val142Cysfs*17) - VUS g.28498813_28498814del g.28487492_28487493del - - CLN3_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 described as p.Val142LeufsX39 in Kousi et al 2012 PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 described as p.Val142LeufsX39 in Kousi et al 2012 PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 described as p.Val142LeufsX39 in Kousi et al 2012 PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 - PubMed: Bensaoula 2000, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. - c.424del r.(?) p.(Val142LeufsTer39) - pathogenic g.28498814del g.28487493del - - CLN3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1_3 c.432+?_1350-?del r.? p.? - pathogenic g.28488804_28498805del g.28477483_28487484del 6 kb deletion - CLN3_000011 deletion of 6 kb that starts between F2 and F4 and ends between GF1 and R3 primers; i08 - 3' region, unknown 6 kb deletion; Truncated protein Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: IBDC 1995, Batten disease database - - Germline - - - 0 - Johan den Dunnen
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS g.28497286_28498251del g.28485965_28486930del UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787 - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - pathogenic g.28497286_28498251del g.28485965_28486930del 461‑280_677+382del966 - CLN3_000002 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] - pathogenic g.28497286_28498251del966 g.28485965_28486930del966 1 kb deletion - CLN3_000037 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - Johan den Dunnen
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