Unique variants in gene CLN3

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

121 entries on 2 pages. Showing entries 1 - 100.
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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 - 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 - - - - - Johan den Dunnen
./. 1 - 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 - - - - - Johan den Dunnen
-?/. 1 - 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
-?/. 1 - 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 1 c.-1101C>T r.(=) p.(=) - pathogenic g.28504365G>A g.28493044G>A c.1-1101C>T; polymorphism - CLN3_000079 1 more item PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 2 1_2 c.-359_46del r.? p.? ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - - - Corina-Marcela Rus
+/. 2 - c.0 r.0 p.0 - pathogenic g.? - not identified, 1.7 Mb deletion - CRYM_000000 hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3 PubMed: Munroe 1997, Batten disease database, PubMed: Pebrel-Richard 2014, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
-/., -?/. 3 - c.45G>A r.(?) p.(Glu15=) - benign, 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_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 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 - - - - - Johan den Dunnen
+/. 2 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 - - - - - Johan den Dunnen
+/. 2 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 - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/. 4 1 c.126-1G>A r.spl? p.? - pathogenic g.28500708C>T g.28489387C>T c.125-1G>A, c.126-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database, PubMed: Mole 2001, Batten disease database - - Germline - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_AMC
-?/. 1 - 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 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 - - - - - Johan den Dunnen
-?/., -/. 3 - c.222T>C r.(?) p.(His74=) - likely benign, 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, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 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 - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/. 1 1 c.233dup r.(?) p.(Thr80Asnfs*12) - pathogenic g.28499974dup g.28488653dup p.Thr80AsnfsX12 - CLN3_000068 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
-/. 1 - 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
-?/., -/. 3 - c.240G>A r.(?) p.(Thr80=) - likely benign, 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, VKGL-NL_AMC, VKGL-NL_Utrecht
?/. 3 - c.242C>T r.(?) p.(Pro81Leu) - VUS g.28499964G>A g.28488643G>A 1 more item - CLN3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 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, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.266G>A r.(?) p.(Arg89Gln) - likely pathogenic (recessive) g.28499940C>T g.28488619C>T - - CLN3_000098 - - - - Germline - - - - - Juan Carlos Zenteno
?/., -?/. 2 - c.270T>C r.(?) p.(Phe90=) - VUS, 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_Rotterdam, VKGL-NL_VUmc
+/. 2 1 c.294-80G>A r.(=) p.(=) - pathogenic g.28499992C>T g.28488671C>T originally IVS-81G>A - CLN3_000069 1 more item PubMed: Mole 2001, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.294-58G>A r.(=) p.(=) - pathogenic g.28499970C>T g.28488649C>T orignally IVS4-59G>A - CLN3_000067 1 more item PubMed: Mole 2001, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 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 - - - - - Johan den Dunnen
-?/. 1 - 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 - - - Mohammed Faruq
-/. 1 - 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
+/. 2 1 c.370dup r.(?) p.(Tyr124Leufs*36) - pathogenic g.28498987dup g.28487666dup 370insT, p.Tyr124LeufsX36 - CLN3_000064 - PubMed: Kousi 2012, Batten disease database, PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 2 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 - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/. 1 1 c.379del r.(?) p.(Arg127Glyfs*54) - pathogenic g.28498862del g.28487541del p.Arg127GlyfsX54 - CLN3_000061 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 2 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 - - - - - Johan den Dunnen
+/. 1 - 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
?/. 1 - 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 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 - - - - - Johan den Dunnen
+/. 1 - c.413del r.(?) p.(Ser138ThrfsTer43) - pathogenic g.28498824del g.28487503del - - CLN3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.423_424del r.(?) p.(Val142Cysfs*17) - VUS g.28498813_28498814del g.28487492_28487493del - - CLN3_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 12 1 c.424del r.(?) p.(Val142Leufs*39), p.(Val142LeufsTer39) - pathogenic g.28498814del g.28487493del p.Val142LeufsX39, p.Val142fs - CLN3_000058, CLN3_000097 described as p.Val142LeufsX39 in Kousi et al 2012, VKGL data sharing initiative Nederland PubMed: Kousi 2012, Batten disease database, PubMed: Munroe 1997, Batten disease database, 1 more item - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 1_3 c.432+?_1350-?del r.? p.? - pathogenic g.28488804_28498805del g.28477483_28487484del 6 kb deletion - CLN3_000011 1 more item PubMed: IBDC 1995, Batten disease database - - Germline - - - - - Johan den Dunnen
?/., +/. 7 - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) - VUS, pathogenic g.28497286_28498251del g.28485965_28486930del UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787, 461‑280_677+382del966, 1 more item - CLN3_000002 - PubMed: Pronicka 2016 - - Germline, Germline/De novo (untested) - 1/113 cases - - - Gerard C.P. Schaafsma, Johan den Dunnen
+/. 344 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, 1 kb deletion?? - CLN3_000037 1 more item PubMed: Munroe 1997, Batten disease database, PubMed: Kousi 2012, Batten disease database, 19 more items - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.461-13G>C r.[=, 461_533del] p.[=, Val155Profs*2] - pathogenic g.28497984C>G g.28486663C>G c.461-13G>C - CLN3_000057 1 more item PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.461-1G>A r.spl? p.? - pathogenic g.28497972C>T g.28486651C>T c.461-1G>A - CLN3_000056 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.461-1G>C r.spl? p.? - pathogenic g.28497972C>G g.28486651C>G c.461-1G>C - CLN3_000055 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.472G>C r.(472g>c) p.(Ala158Pro) - likely pathogenic g.28497960C>G g.28486639C>G p.Ala158Pro - CLN3_000054 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 8 c.482C>A r.(?) p.(Ser161*) ACMG likely pathogenic g.28497950G>T - - - CLN3_000123 - - - - Germline - - - - - Corina-Marcela Rus
+/. 1 1 c.482C>G r.(482c>g) p.(Ser161*) - pathogenic g.28497950G>C g.28486629G>C p.Ser161X - CLN3_000053 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.485C>G r.(485c>g) p.(Ser162*) - pathogenic g.28497947G>C g.28486626G>C p.Ser162X - CLN3_000052 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.494G>A 0 p.(Gly165Glu) - pathogenic g.28497938C>T g.28486617C>T p.Gly165Glu - CLN3_000051 - PubMed: Cortese 2014, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 2 1 c.509T>C r.(509u>c) p.(Leu170Pro) - likely pathogenic g.28497923A>G g.28486602A>G p.Leu170Pro - CLN3_000050 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.516C>T r.(?) p.(Leu172=) - likely benign g.28497916G>A g.28486595G>A CLN3(NM_001042432.1):c.516C>T (p.L172=) - CLN3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.525C>G r.(?) p.(Phe175Leu) - likely benign g.28497907G>C g.28486586G>C CLN3(NM_001042432.1):c.525C>G (p.F175L) - CLN3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 1i c.533+1G>A r.spl? p.? - pathogenic g.28497898C>T g.28486577C>T c.533+1G>A splice defect - CLN3_000049 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.533+1G>C r.spl? p.? - pathogenic g.28497898C>G g.28486577C>G c.533+1G>C - CLN3_000048 670+1G>C; c.533+1G>C splice defect PubMed: IBDC 1995 Munroe 1997 Lauronen 1999, Batten disease database - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.538G>A r.(?) p.(Val180Met) - likely benign g.28497807C>T g.28486486C>T CLN3(NM_001042432.1):c.538G>A (p.V180M) - CLN3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.557C>T r.(?) p.(Ser186Leu) - VUS g.28497788G>A - - - chr16_005875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.558_559del r.(?) p.(Gly187Aspfs*48) - pathogenic g.28497786_28497787del g.28486465_28486466del p.Gly187AspfsX48 - CLN3_000047 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., -/. 2 1 c.560G>C r.(560g>c) p.(Gly187Ala) - pathogenic, benign g.28497785C>G g.28486464C>G p.Gly187Ala - CLN3_000046 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 2 1 c.565G>C r.(565g>c) p.(Gly189Arg) - likely pathogenic g.28497780C>G g.28486459C>G p.(Gly189Arg), p.Gly189Arg - CLN3_000044 - PubMed: Wang 2014, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.565G>T r.565g>t p.(Gly189Trp) - pathogenic g.28497780C>A g.28486459C>A p.Gly189Trp - CLN3_000045 - R Williams, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.569del r.(?) p.(Gly190Glufs*65) - pathogenic g.28497780del g.28486459del 568delG, 569delG - CLN3_000043 - PubMed: Teixeira 2003b Bessa 2006, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.575G>A r.(575g>a) p.(Gly192Glu) - likely pathogenic g.28497770C>T g.28486449C>T p.Gly192Glu - CLN3_000042 - PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.586dup r.(?) p.(Ala196Glyfs*40) - pathogenic g.28497763dup g.28486442dup p.Ala196GlyfsX40 - CLN3_000041 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 6 1 c.597C>A r.(597c>a) p.(Tyr199*) - pathogenic g.28497748G>T g.28486427G>T p.Tyr199X - CLN3_000040 - PubMed: Kousi 2012, Batten disease database, PubMed: Sarpong 2009, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 3 1 c.622dup r.(?) p.(Ser208Phefs*28) - pathogenic g.28497723dup g.28486402dup p.Ser208PhefsX28 - CLN3_000039 Also c.622-623insT; Originally M Milà pers comm. PubMed: Pérez-Poyato 2011, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.631C>T r.(631c>u) p.(Gln211*) - pathogenic g.28497714G>A g.28486393G>A p.Gln211X - CLN3_000038 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
-?/. 3 - c.677+8G>A r.(=) p.(=) - likely benign g.28497660C>T g.28486339C>T CLN3(NM_001042432.1):c.677+8G>A - CLN3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 2 1_3 c.678-?_1317+?del r.spl? p.? - pathogenic g.28488837_28495439del g.28477516_28484118del c.678-?_1317+?del - CLN3_000012 1 more item PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 10 c.678_790del r.(?) p.(Ser226Argfs*36) ACMG likely pathogenic g.28495327_28495439del - - - CLN3_000124 - - - - Germline - - - - - Corina-Marcela Rus
-?/., -/. 2 - c.768C>T r.(?) p.(Thr256=) - likely benign, benign g.28495349G>A g.28484028G>A CLN3(NM_001042432.1):c.768C>T (p.T256=) - CLN3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., -/. 3 - c.771G>A r.(?) p.(Glu257=) - likely benign, benign g.28495346C>T g.28484025C>T CLN3(NM_001042432.1):c.771G>A (p.E257=) - CLN3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 3 - c.777G>A r.(?) p.(Pro259=) - likely benign g.28495340C>T g.28484019C>T CLN3(NM_001042432.1):c.777G>A (p.P259=) - CLN3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 1 c.784A>T 0 p.(Lys262*) - pathogenic g.28495333T>A g.28484012T>A p.Lys262X - CLN3_000036 - PubMed: Coppieters 2014, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 1i c.790+3A>C r.spl? p.? - pathogenic, VUS g.28495324T>G g.28484003T>G c.790+3A>C - CLN3_000035 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Kousi 2012, Batten disease database, Faruq 2020, submtted - rs386833738 Germline - 5/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 1 1i c.791-802_1056+1445del2815 r.(791_1056del) p.(Gly264Valfs*29) - pathogenic g.28491981_28494795del2815 g.28480660_28483474del2815 2.8 kb deletion, c.791-802_1056+1445del2815 - CLN3_000020 1 more item PubMed: IBDC 1995 Munroe 1997 Lauronen 1999, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 6 1 c.791-?_1056-?del r.791_1056del p.(Gly264Valfs*29) - pathogenic g.28493426_28493993del g.28482105_28482672del 2.8 kb deletion where D16S298 not deleted - CLN3_000023 1 more item PubMed: IBDC 1995 Lauronen 1999, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 2 1 c.816_817del r.(?) p.fs - likely pathogenic g.28493968_28493969del g.28482647_28482648del c.816_817del - CLN3_000034 - R Williams, Batten disease database - - Germline - - - - - Johan den Dunnen
-?/., -/. 3 - c.831G>A r.(?) p.(Val277=) - likely benign, benign g.28493953C>T g.28482632C>T CLN3(NM_001042432.1):c.831G>A (p.V277=) - CLN3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Rotterdam
+/., +?/? 3 1, 12 c.868G>T 0, r.(?) p.(Val290Leu) - pathogenic, VUS g.28493836C>A g.28482515C>A p.(Val290Leu) - CLN3_000007 blindness ony, age 45y PubMed: Wang 2014, Batten disease database - - Germline, Unknown - - - - - Johan den Dunnen, Feng Wang
+?/. 7 1 c.883G>A r.(883g>a) p.(Glu295Lys) - likely pathogenic g.28493821C>T g.28482500C>T p.Glu295Lys, p.(Glu295Lys) - CLN3_000033 nt 1020G>A PubMed: Wisniewski 1998b, Batten disease database, PubMed: Wang 2014, Batten disease database, 2 more items - rs121434286 Germline - - - - - Johan den Dunnen
+/., ?/. 2 1 c.883G>T r.(883g>u), r.(?) p.(Glu295*) - pathogenic, VUS g.28493821C>A g.28482500C>A p.Glu295X - CLN3_000005 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen, Gerard C.P. Schaafsma
+?/. 2 12i c.906+2T>A r.spl? p.? ACMG likely pathogenic g.28493796A>T - - - CLN3_000125 - - - - Germline - - - - - Corina-Marcela Rus
+/., ?/. 2 1i c.906+5G>A r.spl?, r.(=) p.?, p.(=) - pathogenic, VUS g.28493793C>T g.28482472C>T c.906+5G>A, INTRON 11, IVS11G>A, CHR16:28401294G>A - CLN3_000006 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen, Gerard C.P. Schaafsma
+/. 4 1 c.944dup r.(?) p.(His315Glnfs*67) - pathogenic g.28493666dup g.28482345dup c.944-945insA - CLN3_000032 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 5 1 c.954_962+18del r.spl, r.spl? p.(Leu313_Trp321del), p.? - pathogenic g.28493633_28493659del g.28482312_28482338del p.Leu313_Trp321del / splice defect, 954_962+18del28, 1 more item - CLN3_000031 p.Leu313_Trp321del / splice defect, VKGL data sharing initiative Nederland PubMed: Kousi 2012, Batten disease database, PubMed: Pronicka 2016 - - Germline, CLASSIFICATION record - 1/113 cases - - - Johan den Dunnen, VKGL-NL_Groningen
-?/., -/. 2 - c.963-16C>G r.(=) p.(=) - likely benign, benign g.28493535G>C g.28482214G>C CLN3(NM_001042432.1):c.963-16C>G - CLN3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.963-16C>T r.(=) p.(=) - likely benign g.28493535G>A g.28482214G>A CLN3(NM_001286110.2):c.801-16C>T - CLN3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 1 c.963-1G>T r.spl? p.? - pathogenic g.28493520C>A g.28482199C>A c.963-1G>T - CLN3_000030 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., +/? 3 1, 14 c.966C>G 0, r.(?) p.(Tyr322*) - pathogenic, VUS g.28493516G>C g.28482195G>C p.(Tyr322*) - CLN3_000008 (in Pas with blindness only) PubMed: Wang 2014, Batten disease database - - Germline, Unknown - - - - - Johan den Dunnen, Feng Wang
?/. 1 - c.969G>A r.(?) p.(Gln323=) - VUS g.28493513C>T g.28482192C>T - - CLN3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.979C>T r.(979c>u), 0 p.(Gln327*), p.(Arg327Trp) - pathogenic g.28493503G>A g.28482182G>A p.Gln327X, p.(Arg327Trp) - CLN3_000029 blindness only age 35 PubMed: Munroe 1997, Batten disease database, A Moore, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.988G>T r.(988g>u) p.(Val330Phe) - likely pathogenic g.28493494C>A g.28482173C>A p.Val330Phe - CLN3_000028 - PubMed: Munroe 1997, Batten disease database - - Germline - - - - - Johan den Dunnen
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