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.

742 entries on 8 pages. Showing entries 1 - 100.
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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     
+/. 7i_9i c.(460+1_461-1)_(677+1_678-1))del r.? p.(Val155Glyfs*3) Parent #1 ACMG pathogenic g.(28498776_28497972)_(28497667_28495440)del - - - CLN3_000149 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067112 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.(460+1_461-1)_(677+1_678-1))del r.? p.(Val155Glyfs*3) Unknown ACMG pathogenic g.(28498776_28497972)_(28497667_28495440)del - - - CLN3_000149 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066804 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.(460+1_461-1)_(677+1_678-1))del r.? p.(Val155Glyfs*3) Unknown ACMG pathogenic g.(28498776_28497972)_(28497667_28495440)del - - - CLN3_000149 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066813 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.(460+1_461-1)_(677+1_678-1))del r.? p.(Val155Glyfs*3) Unknown ACMG pathogenic g.(28498776_28497972)_(28497667_28495440)del - - - CLN3_000149 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066725 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.(460+1_461-1)_(677+1_678-1))del r.? p.(Val155Glyfs*3) Unknown ACMG pathogenic g.(28498776_28497972)_(28497667_28495440)del - 464_677del - CLN3_000149 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 079509 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
./. - 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 - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - 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 - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-5988C>T r.(?) p.(=) Unknown - VUS g.28509252G>A - APOBR(NM_018690.3):c.2890G>A (p.(Gly964Arg)) - CLN3_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5146G>T r.(?) p.(=) Unknown - VUS g.28508410C>A - APOBR(NM_018690.3):c.2048C>A (p.(Thr683Asn)) - CLN3_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1_2 c.-359_46del r.? p.? Both (homozygous) ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - - - DNA MLPA DNA - CLN3 ? - - F ? Sweden - - - - - 1 Corina-Marcela Rus
+?/. 1_2 c.-359_46del r.? p.? Both (homozygous) ACMG likely pathogenic g.28503035_28503623del - - - CLN3_000122 - - - - Germline - - - - - DNA MLPA DNA - CLN3 ? - - 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 - - - - - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database variant 1st and 2nd allele not identified - - - - - - - - 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 - - - - - DNA SEQ - - CLN 23860047-? PubMed: Pebrel-Richard 2014, Batten disease database hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3 - - France - - - - - 1 Johan den Dunnen
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - 2.8 kb deletion - CRYM_000000 Check also: Brancati 2007 PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - 2.8kb deletion - CRYM_000000 - PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. - c.? r.spl p.(?) Unknown ACMG likely pathogenic g.? g.? large deletion - CRYM_000000 - PubMed: Dozieres-Puyravel 2020 - - Germline ? - - - - ? ? - - CLN 3 PubMed: Dozieres-Puyravel 2020 - ? - France - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? 1.02 kb deletion - CRYM_000000 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 13 PubMed: Jilani 2019 - M no - - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? 1.02 kb deletion - CRYM_000000 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 16 PubMed: Jilani 2019 - M ? - - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.28497285_28498251del - chr16:g.28497285_28498251del - CRYM_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005260 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? g.? CLN3 1.02-kb, del - CRYM_000000 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease BD1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? CLN3 2.8 kb deletion - CRYM_000000 homozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ, MLPA - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 22 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? CLN3 2.8 kb deletion - CRYM_000000 homozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ, MLPA - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 23 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.? Unknown ACMG pathogenic g.28503080T>C NM_001042432.2:c.1A>G - - CLN3_000168 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2356 rs386833708 Germline ? - - - - DNA SEQ-NG-I Buccal swab Retinal dystrophy panel CLN3 2473654 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - yes None 1 Rocio Villafuerte-de la Cruz
-/. - c.45G>A r.(?) p.(Glu15=) Unknown - benign g.28503036C>T g.28491715C>T CLN3(NM_001042432.1):c.45G>A (p.E15=), CLN3(NM_001042432.2):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(NM_001042432.2):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(NM_001042432.2):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 - - - - - DNA SEQ - - CLN 16087292-? PubMed: Kwon 2005, Batten disease database - - - United States - - - - - 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 - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Germany - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - - - - 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 - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database siblings; only blindness at 57y - - Mexico - - - - - 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 - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database only blindness at 50-60y - - Mexico - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Belgium - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 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 - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 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 - - - - - DNA SEQ - - CLN 11589012-? PubMed: Mole 2001, Batten disease database - - - Turkey - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.163A>T r.(?) p.(Met55Leu) Unknown - likely pathogenic g.28500670T>A - CLN3(NM_001286110.1):c.1A>T (p.M1?) - CLN3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168G>A r.(?) p.(Leu56=) Unknown - likely benign g.28500665C>T - CLN3(NM_001042432.1):c.168G>A (p.L56=) - CLN3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(Ala58=) Unknown - benign g.28500659G>A g.28489338G>A CLN3(NM_001042432.2):c.174C>T (p.A58=) - CLN3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.175G>A r.(?) p.(Ala59Thr) Parent #1 - likely pathogenic g.28500658C>T g.28489337C>T CLN3 c.175G>A, p.(A59T) - CLN3_000163 heterozygous PubMed: Chen 2018 - - Germline yes - - - - DNA SEQ - - retinal disease ? PubMed: Chen 2018 - - - - - - - - - 1 LOVD
+/. 1 c.175G>A r.(?) p.(Ala59Thr) Parent #1 - pathogenic g.28500658C>T - c.175G>A - CLN3_000163 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.175G>A r.(?) p.(Ala59Thr) Parent #1 - pathogenic g.28500658C>T - c.175G>A - CLN3_000163 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.175G>A r.(?) p.(Ala59Thr) Unknown ACMG pathogenic g.28500658C>T g.28489337C>T - - CLN3_000163 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073887 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.176C>T r.(?) p.(Ala59Val) Unknown - VUS g.28500657G>A - - - CLN3_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.181_183del r.(?) p.(Asp61del) Both (homozygous) - likely pathogenic g.28500652_28500654del g.28489331_28489333del 181_183delGAC (Asp61del) - CLN3_000160 homozygous PubMed: Sher 2019 - - Germline yes - - - - DNA SEQ-NG - Epidasd545 Panel CLN3 V:3 PubMed: Sher 2019 - M yes Pakistan - - - - - 1 LOVD
+?/. - c.181_183del r.(?) p.(Asp61del) Both (homozygous) - likely pathogenic g.28500652_28500654del g.28489331_28489333del 181_183delGAC (Asp61del) - CLN3_000160 homozygous PubMed: Sher 2019 - - Germline yes - - - - DNA SEQ-NG - Epidasd545 Panel CLN3 V:4 PubMed: Sher 2019 - M yes Pakistan - - - - - 1 LOVD
+?/. - c.181_183del r.(?) p.(Asp61del) Parent #1 - likely pathogenic g.28500652_28500654del g.28489331_28489333del 181_183delGAC (Asp61del) - CLN3_000160 homozygous PubMed: Sher 2019 - - Germline yes - - - - DNA SEQ-NG - Epidasd545 Panel CLN3 V:3 PubMed: Sher 2019 - M yes Pakistan - - - - - 1 LOVD
+?/. - c.181_183del r.(?) p.(Asp61del) Parent #1 - likely pathogenic g.28500652_28500654del g.28489331_28489333del 181_183delGAC (Asp61del) - CLN3_000160 homozygous PubMed: Sher 2019 - - Germline yes - - - - DNA SEQ-NG - Epidasd545 Panel CLN3 V:4 PubMed: Sher 2019 - M yes Pakistan - - - - - 1 LOVD
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206C>T r.(?) p.(Ser69Leu) Unknown - VUS g.28500627G>A g.28489306G>A c.206C>T, p.Ser69Leu - CLN3_000118 In silico models disagree, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease 121-865 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 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 - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - - - - 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_001042432.2):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_001042432.2):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_001042432.2):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 - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - Greece - - - - - 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 - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Germany - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.238A>T r.(?) p.(Thr80Ser) Unknown - benign g.28499968T>A g.28488647T>A CLN3(NM_001042432.2):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=), 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=), 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=), 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_001042432.2):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.242C>T r.(?) p.(Pro81Leu) Unknown - VUS g.28499964G>A g.28488643G>A CLN3(NM_001042432.2):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.242C>T r.(?) p.(Pro81Leu) Unknown - VUS g.28499964G>A - CLN3(NM_001042432.2):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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Norway - - - - - 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 - - - - - DNA SEQ-NG-I blood - RD - - - F - Mexico - - - - - 1 Juan Carlos Zenteno
+/. - c.266G>A r.(?) p.(Arg89Gln) Both (homozygous) ACMG pathogenic g.28499940C>T g.28488619C>T - - CLN3_000098 ACMG PS1, PM2, PP1, PP2, PP3, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3919 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
?/. - 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_001042432.2):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_001042432.2):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 - CLN3(NM_001042432.1):c.270T>C (p.F90=), CLN3(NM_001042432.2):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 - - - - - DNA SEQ - - ? 11589012-? PubMed: Mole 2001, Batten disease database - - - - - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 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 - - - - - DNA SEQ - - ? 11589012-? PubMed: Mole 2001, Batten disease database - - - Netherlands - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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 - - - - - DNA SEQ - - CLN 9311735-? PubMed: Munroe 1997, Batten disease database - - - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.303_305del r.(?) p.(Leu102del) Parent #2 - likely pathogenic g.28499054_28499056del g.28487733_28487735del 303_305delCCT - CLN3_000138 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 626 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
-?/. - c.313A>G r.(?) p.(Ile105Val) Parent #1 - likely benign g.28499044T>C g.28487723T>C - - CLN3_000119 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11552531 Germline - 5/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.318C>T r.(?) p.(Leu106=) Unknown - likely benign g.28499039G>A - CLN3(NM_001042432.1):c.318C>T (p.L106=) - CLN3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.327C>T r.(?) p.(Leu109=) Unknown - benign g.28499030G>A g.28487709G>A CLN3(NM_001042432.2):c.327C>T (p.L109=) - CLN3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.370del r.(?) p.(Tyr124Thrfs*57) Parent #1 - likely pathogenic g.28498987del g.28487666del CLN3, variant 1: c.370del/p.Y124Tfs*57, variant 2: c.676A>G/p.S226G - CLN3_000153 error in annotation, indicated transcript is NM_033380.2, which is COL4A5 transcript, possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 824 PubMed: Weisschuh 2020 Filing key number: 337, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.370del r.(?) p.(Tyr124Thrfs*57) Parent #1 - likely pathogenic g.28498987del g.28487666del CLN3, variant 1: c.370del/p.Y124Tfs*57, variant 2: c.676A>G/p.S226G - CLN3_000153 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 825 PubMed: Weisschuh 2020 Filing key number: 337, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 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 - - - - - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - - - - 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 - - - - - DNA SEQ - - ? 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - - - - 1 Johan den Dunnen
+/. - c.371_372insT r.(?) p.(Ser125GlnfsTer35) Both (homozygous) - pathogenic (recessive) g.28498985_28498986insA g.28487664_28487665insA - - CLN3_000177 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat5 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 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 - - - - - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - - - - 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 - - - - - DNA SEQ - - CLN 21499717-? PubMed: Pérez-Poyato 2011, Batten disease database - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.375-3C>G r.(?) p.? Parent #2 - likely pathogenic g.28498865G>C g.28487544G>C CLN3 c.375-3C>G, (splice site) - CLN3_000162 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease - PubMed: Ku 2017 - M - - - - - - - 1 LOVD
+/. - c.(374+1_375-1)_(533+1_534-1)del r.? p.? Unknown - pathogenic g.(28497812_28497898)_(28498863_28498982)del g.(28486491_28486577)_(28487542_28487661)del - - CLN3_000139 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 504 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. _7_8_ c.(374+1_375-1)_(533+1_534-1)del r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? CLN3 Ex.7-8 c.(374+1_375-1)_(533+1_534-1)del, Ex.7-8 c.(374+1_375-1)_(533+1_534-1)del - CRYM_000000 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1673 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.(374+1_375-1)_(533+1_534-1)del r.? p.(Ser125_Pro177del) Parent #1 - VUS g.? - c.(374+1_375-1)_(533+1_534-1)del - CRYM_000000 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.375del r.(?) p.(Arg127Glyfs*54) Unknown - pathogenic g.28498862del g.28487541del NM_000086.2:379del (Arg127fs) - CLN3_000061 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 504 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
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