Full data view for 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.
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-3385420_*1305686dup - - Unknown - 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 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
./. - c.-828981_*6958630del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.-4594C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3558C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-1101C>T r.(=) p.(=) Unknown - 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 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 1_2 c.-359_46del r.? p.? Both (homozygous) ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - 0 - DNA MLPA DNA - CLN-3 ? - - F ? Sweden - - - - - 1 Corina-Marcela Rus
+?/. 1_2 c.-359_46del r.? p.? Both (homozygous) ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - 0 - DNA MLPA DNA - CLN-3 ? - - F ? (Sweden) - - - - - 1 Corina-Marcela Rus
+/. - c.0 r.0 p.0 Unknown - pathogenic g.? - not identified - CRYM_000000 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database variant 1st and 2nd allele not identified - - - - - 0 - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - 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 - DNA SEQ - - CLN 23860047-? PubMed: Pebrel-Richard 2014, Batten disease database hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3 - - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.1A>C r.(1a>c) p.0? Parent #1 - pathogenic g.28503080T>G g.28491759T>G p.Met1Leu - CLN3_000078 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/. - c.45G>A r.(?) p.(Glu15=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>A r.(?) p.(Glu15=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>A r.(?) p.(Glu15=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.49G>T r.(49g>u) p.(Glu17*) Parent #2 - pathogenic g.28502879C>A g.28491558C>A p.Glu17X - CLN3_000077 - PubMed: Kwon 2005, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 16087292-? PubMed: Kwon 2005, Batten disease database - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.105G>A r.(105g>a) p.(Trp35*) Parent #1 - pathogenic g.28502823C>T g.28491502C>T p.Trp35X - CLN3_000076 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 1 c.105G>A r.(105g>a) p.(Trp35*) Parent #1 - pathogenic g.28502823C>T g.28491502C>T p.Trp35X - CLN3_000076 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - 0 - - 1 Johan den Dunnen
+/. 1i c.125+1G>C r.spl? p.? Parent #2 - 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 - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database siblings; only blindness at 57y - - Mexico - - 0 - - 1 Johan den Dunnen
+/. 1i c.125+1G>C r.spl? p.? Parent #2 - 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 - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database only blindness at 50-60y - - Mexico - - 0 - - 1 Johan den Dunnen
+/. 1i c.125+5G>A r.spl? p.? Parent #1 - pathogenic g.28502798C>T g.28491477C>T c.125+5G>A - CLN3_000074 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Belgium - - 0 - - 1 Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? Both (homozygous) - pathogenic g.28500708C>T g.28489387C>T c.126-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? Both (homozygous) - pathogenic g.28500708C>T g.28489387C>T c.125-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? Parent #1 - pathogenic g.28500708C>T g.28489387C>T c.126-1G>A - CLN3_000073 - PubMed: Mole 2001, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 11589012-? PubMed: Mole 2001, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.126-1G>A r.spl? p.? Parent #1 - pathogenic g.28500708C>T g.28489387C>T c.126-1G>A - CLN3_000073 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
-/. - c.174C>T r.(?) p.(Ala58=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.206C>T r.(?) p.(Ser69Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.214C>T r.(214c>u) p.(Gln72*) Parent #1 - pathogenic g.28500619G>A g.28489298G>A p.Gln72X - CLN3_000072 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.222T>C r.(?) p.(His74=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.222T>C r.(?) p.(His74=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222T>C r.(?) p.(His74=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.222+2T>G r.spl? p.? Parent #1 - pathogenic g.28500609A>C g.28489288A>C originally IVS3+2T>G - CLN3_000071 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - Greece - - 0 - - 1 Johan den Dunnen
+/. 1i c.222+5G>C r.spl? p.? Parent #2 - pathogenic g.28500606C>G g.28489285C>G c.222+5G>C - CLN3_000070 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Germany - - 0 - - 1 Johan den Dunnen
-/. - c.223-8C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 1 c.233dup r.(?) p.(Thr80Asnfs*12) Both (homozygous) - pathogenic g.28499974dup g.28488653dup p.Thr80AsnfsX12 - CLN3_000068 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
-/. - c.238A>T r.(?) p.(Thr80Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.240G>A r.(?) p.(Thr80=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.240G>A r.(?) p.(Thr80=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240G>A r.(?) p.(Thr80=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Pro81=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 1 c.265C>T r.(265c>u) p.(Arg89*) Both (homozygous) - pathogenic g.28499941G>A g.28488620G>A p.Arg89X - CLN3_000066 - PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.265C>T r.(265c>u) p.(Arg89*) Parent #1 - pathogenic g.28499941G>A g.28488620G>A p.Arg89X - CLN3_000066 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Norway - - 0 - - 1 Johan den Dunnen
+?/. 1 c.266G>A r.(?) p.(Arg89Gln) Both (homozygous) - likely pathogenic (recessive) g.28499940C>T g.28488619C>T - - CLN3_000098 - - - - Germline - - - 0 - DNA SEQ-NG-I blood - RD - - - F - Mexico - - 0 - - 1 Juan Carlos Zenteno
?/. - c.270T>C r.(?) p.(Phe90=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270T>C r.(?) p.(Phe90=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.294-80G>A r.(=) p.(=) Parent #1 - 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 - DNA SEQ - - ? 11589012-? PubMed: Mole 2001, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.294-80G>A r.(=) p.(=) Parent #2 - 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 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.294-58G>A r.(=) p.(=) Parent #1 - 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 - DNA SEQ - - ? 11589012-? PubMed: Mole 2001, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 1 c.294-58G>A r.(=) p.(=) Parent #2 - 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 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - 0 - - 1 Johan den Dunnen
-/. - c.295-59G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.302T>C r.(302u>c p.(Leu101Pro) Parent #2 - likely pathogenic g.28499055A>G g.28487734A>G p.Leu101Pro - CLN3_000065 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.313A>G r.(?) p.(Ile105Val) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-/. - c.327C>T r.(?) p.(Leu109=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.370dup r.(?) p.(Tyr124Leufs*36) Parent #1 - pathogenic g.28498987dup g.28487666dup p.Tyr124LeufsX36 - CLN3_000064 - PubMed: Pérez-Poyato 2011, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.370dup r.(?) p.(Tyr124Leufs*36) Parent #1 - pathogenic g.28498987dup g.28487666dup 370insT - CLN3_000064 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.374G>A r.[374g>a, spl?] p.[Ser125Asn, ?] Parent #2 - 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 - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.374G>A r.[374g>a, spl?] p.[Ser125Asn, ?] Parent #2 - 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 - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.378_379dup r.(?) p.(Arg127Profs*55) Parent #2 - 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 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.379del r.(?) p.(Arg127Glyfs*54) Parent #1 - pathogenic g.28498862del g.28487541del p.Arg127GlyfsX54 - CLN3_000061 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - Russia - - 0 - - 1 Johan den Dunnen
+/. 1 c.391A>C r.(391a>c) p.(Ser131Arg) Parent #2 - pathogenic g.28498846T>G g.28487525T>G p.(Ser131Arg) - CLN3_000060 - PubMed: Wang 2014, Batten disease database - - Germline - - - 0 - DNA SEQ - - CORD 24154662-? PubMed: Wang 2014, Batten disease database siblings; only blindness at 20y - - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.391A>C r.(391a>c) p.(Ser131Arg) Parent #2 - pathogenic g.28498846T>G g.28487525T>G p.(Ser131Arg) - CLN3_000060 - PubMed: Wang 2014, Batten disease database - - Germline - - - 0 - DNA SEQ - - CORD 24154662-? PubMed: Wang 2014, Batten disease database only blindness at 20y - - China - - 0 - - 1 Johan den Dunnen
+/. - c.391_392del r.(?) p.(Ser131TrpfsTer28) Unknown - pathogenic g.28498845_28498846del g.28487524_28487525del - - CLN3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392G>A r.(?) p.(Ser131Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.400T>C r.(400u>c) p.(Cys134Arg) Parent #1 - likely pathogenic g.28498837A>G g.28487516A>G p.Cys134Arg - CLN3_000059 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Italy - - 0 - - 1 Johan den Dunnen
+/. - c.413del r.(?) p.(Ser138ThrfsTer43) Unknown - pathogenic g.28498824del g.28487503del - - CLN3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423_424del r.(?) p.(Val142Cysfs*17) Unknown - VUS g.28498813_28498814del g.28487492_28487493del - - CLN3_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Both (homozygous) - 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 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Both (homozygous) - 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 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Both (homozygous) - 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 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #2 - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #2 - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 - PubMed: Munroe 1997, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #2 - pathogenic g.28498814del g.28487493del p.Val142fs - CLN3_000058 - PubMed: Bensaoula 2000, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 10964839-? PubMed: Bensaoula 2000, Batten disease database - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #1 - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #1 - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Belgium - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #1 - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #2 - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Belgium - - 0 - - 1 Johan den Dunnen
+/. 1 c.424del r.(?) p.(Val142Leufs*39) Parent #2 - pathogenic g.28498814del g.28487493del p.Val142LeufsX39 - CLN3_000058 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.424del r.(?) p.(Val142LeufsTer39) Unknown - pathogenic g.28498814del g.28487493del - - CLN3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_3 c.432+?_1350-?del r.? p.? Parent #2 - 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 - DNA SEQ - - CLN 7553855-? PubMed: IBDC 1995, Batten disease database - - - Morocco - - 0 - - 1 Johan den Dunnen
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787 - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - pathogenic g.28497286_28498251del g.28485965_28486930del 461‑280_677+382del966 - CLN3_000002 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat88 PubMed: Pronicka 2016 - M - Poland - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database IBDC screened 81 patients, of which 46 were homoz for the 1 kb del, and 24 were het for 1 kb, with 11 not defined genetically. These data were incoporated into Munroe et al 1997a. - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.461-280_677+382del966 r.[461_677del, 461_790del] p.[Gly154Alafs*29, Val155_Gly264del] Both (homozygous) - 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 - DNA SEQ - - CLN 7553855-? PubMed: Munroe 1997, Batten disease database - - - - - - 0 - - 1 Johan den Dunnen
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »