All variants in the CLCN1 gene

Information The variants shown are described using the NM_000083.2 transcript reference sequence.

2141 entries on 22 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     
?/? _1 c.-136T>G r.(?) p.(=) - VUS g.143013170T>G g.143316077T>G - - CLCN1_000001 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. - - - Germline - - - 0 - Johan den Dunnen
?/? _1 c.-136T>G r.(?) p.(=) - VUS g.143013170T>G g.143316077T>G - - CLCN1_000001 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. - - - Germline - - - 0 - Johan den Dunnen
?/? _1 c.-136T>G r.(?) p.(=) - VUS g.143013170T>G g.143316077T>G - - CLCN1_000001 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. - - - Germline - - - 0 - Johan den Dunnen
?/? _1 c.-136T>G r.(?) p.(=) - VUS g.143013170T>G g.143316077T>G - - CLCN1_000001 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. - - - Germline - - - 0 - Johan den Dunnen
?/? _1 c.-136T>G r.(?) p.(=) - VUS g.143013170T>G g.143316077T>G - - CLCN1_000001 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. - - - Germline - - - 0 - Johan den Dunnen
-/? _1 c.-135T>G r.(?) p.(?) - benign g.143013171T>G g.143316078T>G - - CLCN1_000175 - - - - Germline - - - 0 - Birgit Neitzel
-/? _1 c.-135T>G r.(?) p.(=) - benign g.143013171T>G g.143316078T>G - - CLCN1_000175 5'UTR - - rs6464541 Germline - - - 0 - Johan den Dunnen
-/. - c.-21C>T r.(=) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - rs34904831 Germline - - - 0 - Andreas Laner
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-21C>T r.(?) p.(=) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Johan den Dunnen
-/? 1 c.-21C>T r.(?) p.(?) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - - Germline - - - 0 - Birgit Neitzel
+/+ 1 c.-3A>T r.(?) p.(=) - pathogenic g.143013303A>T g.143316210A>T - - CLCN1_000003 - Sloan Brown and George 1997 - - Germline - - - 0 - Johan den Dunnen
+/+ 1 c.-3A>T r.(?) p.(=) - pathogenic g.143013303A>T g.143316210A>T - - CLCN1_000003 - George 1994 - - Germline - - - 0 - Johan den Dunnen
+/+ 1 c.-3A>T r.(?) p.(=) - pathogenic g.143013303A>T g.143316210A>T - - CLCN1_000003 - George 1994 - - Germline - - - 0 - Johan den Dunnen
+/+ 1 c.-3A>T r.(?) p.(=) - pathogenic g.143013303A>T g.143316210A>T - - CLCN1_000003 - Sloan Brown 1996 - - Germline - - - 0 - Johan den Dunnen
+/+ 1 c.-3A>T r.(?) p.(=) - pathogenic g.143013303A>T g.143316210A>T - - CLCN1_000003 - Sloan Brown 1996 - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.568G>M r.(?) p.(Gly190Arg) - pathogenic g.g143018813G>M - G190R - CLCN1_000028 - Laboratory for Diagnostic Genome Analyses - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.568G>M r.(?) p.(Gly190Arg) - pathogenic g.g143018813G>M - G190R - CLCN1_000028 - - - - Germline - - - 0 - Johan den Dunnen
?/? 9 c.? r.(?) p.(=) - VUS g.? - 1017+56G>A - CLCN1_000072 - - - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.47G>A r.(?) p.(Trp16Ter) - likely pathogenic g.143013352G>A g.143316259G>A - - CLCN1_000331 - PubMed: Ganapathy 2019 - rs769092535 Germline - - - 0 - Johan den Dunnen
+/. - c.53_65del r.(?) p.(Ser18Thrfs*55) - pathogenic g.143013358_143013370del g.143316265_143316277del - - CLCN1_000272 - - - - Germline - - - 0 - Andreas Laner
?/. - c.86A>C r.(?) p.(His29Pro) - VUS g.143013391A>C g.143316298A>C - - CLCN1_000273 PolyPhen2: poss.damag.(PSIC: 0,15) - - - Germline - - - 0 - Andreas Laner
-?/. - c.86A>C r.(?) p.(His29Pro) - likely benign g.143013391A>C g.143316298A>C - - CLCN1_000273 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146160029 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/? 1 c.86A>G r.(?) p.(His29Pro) - VUS g.143013391A>G g.143316298A>G - - CLCN1_000179 Polyphen PSIC score 2,5 suggests probably damaging effect - - - Germline - - - 0 - Birgit Neitzel
+/+ 1 c.98A>C r.(?) p.(Tyr33Cys) - pathogenic g.143013403A>C g.143316310A>C - - CLCN1_000004 - - - - Germline - - - 0 - Johan den Dunnen
-?/. - c.117T>G r.(?) p.(Asn39Lys) - likely benign g.143013422T>G - CLCN1(NM_000083.2):c.117T>G (p.N39K) - CLCN1_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.139C>T r.(?) p.(Arg47Trp) - VUS g.143013444C>T - CLCN1(NM_000083.2):c.139C>T (p.R47W) - CLCN1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 c.178C>T r.(?) p.(Gln60*) - pathogenic g.143013483C>T g.143316390C>T - - CLCN1_000182 - - - - Germline - - - 0 - Birgit Neitzel
+/+ 1i c.180+3A>T r.(spl?) p.? - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - Sun 2001 - - Germline - - - 0 - Johan den Dunnen
+/+ 1i c.180+3A>T r.(spl?) p.? - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 1i c.180+3A>T r.(spl?) p.? - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 1i c.180+3A>T r.(spl?) p.? - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Johan den Dunnen
+/? 1i c.180+3A>T r.(?) p.(?) - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Birgit Neitzel
+/? 1i c.180+3A>T r.(?) p.(?) - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Birgit Neitzel
+/? 1i c.180+3A>T r.(?) p.(?) - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Birgit Neitzel
+/? 1i c.180+3A>T r.(?) p.(?) - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Birgit Neitzel
+/? 1i c.180+3A>T r.(?) p.(?) - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Birgit Neitzel
+/? 1i c.180+3A>T r.(?) p.(?) - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - - - - Germline - - - 0 - Birgit Neitzel
+?/. - c.180+3A>T r.spl? p.? - likely pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1i c.180+3A>T r.spl p.? - pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 - Ginjaar, unpublished - - Germline - - - 0 - Ieke Ginjaar
+/. - c.180+3A>T r.(?) p.(?) ACMG pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 ACMG: PVS1,PS3,PM2,PM3,PP3; Sloan Brown et al. 1997. Neurology 48: 542; Ardissone et al. 2014. Muscle 50: 145; Mazon et al. 2012. NeuromusculDis 22: 231 - - rs202217420 Germline - - - 0 - Andreas Laner
?/. - c.181-44T>C r.(=) p.(=) - VUS g.143016804T>C g.143319711T>C - - CLCN1_000264 - - - - Germline - - - 0 - Andreas Laner
?/. - c.181-43A>C r.(=) p.(=) - VUS g.143016805A>C g.143319712A>C - - CLCN1_000265 - - - - Germline - - - 0 - Andreas Laner
+/+ 2 c.202C>T r.(?) p.(Gln68*) - pathogenic g.143016869C>T g.143319776C>T - - CLCN1_000167 - Zhang 1996 - - Germline - - - 0 - Johan den Dunnen
+/+ 2 c.202C>T r.(?) p.(Gln68*) - pathogenic g.143016869C>T g.143319776C>T - - CLCN1_000167 - Zhang 1996 - - Germline - - - 0 - Johan den Dunnen
+/+ 2 c.220C>T r.(?) p.(Gln74*) - pathogenic g.143016887C>T g.143319794C>T - - CLCN1_000006 - Mailander 1996 - - Germline - - - 0 - Johan den Dunnen
+/+ 2 c.220C>T r.(?) p.(Gln74*) - pathogenic g.143016887C>T g.143319794C>T - - CLCN1_000006 - Mailander 1996 - - Germline - - - 0 - Johan den Dunnen
+/+ 2 c.220C>T r.(?) p.(Gln74*) - pathogenic g.143016887C>T g.143319794C>T - - CLCN1_000006 - Mailander 1996 - - Germline - - - 0 - Johan den Dunnen
+/. - c.243_249del r.(?) p.(Lys81Asnfs*28) - pathogenic g.143016910_143016916del g.143319817_143319823del - - CLCN1_000266 - - - rs140311 Germline - - - 0 - Andreas Laner
+?/. 2 c.244A>G r.(?) p.(Thr82Ala) - likely pathogenic g.143016911A>G g.143319818A>G - - CLCN1_000283 - - - - Germline - - - 0 - Raffaella Brugnoni
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - 0 - Johan den Dunnen
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