Unique variants in the CLCN1 gene

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

307 entries on 4 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     
?/? 5 _1 c.-136T>G r.(?) p.(=) - VUS g.143013170T>G g.143316077T>G - - CLCN1_000001 1 more item - - - Germline - - - - - Johan den Dunnen
-/? 2 _1 c.-135T>G r.(?) p.(=), p.(?) - benign g.143013171T>G g.143316078T>G - - CLCN1_000175 5'UTR - - rs6464541 Germline - - - - - Johan den Dunnen, Birgit Neitzel
-/-, -/., -/? 21 1 c.-21C>T r.(=), r.(?) p.(=), p.(?) - benign g.143013285C>T g.143316192C>T - - CLCN1_000002 - - - rs34904831 Germline - - - - - Johan den Dunnen, Birgit Neitzel, Andreas Laner
+/+ 5 1 c.-3A>T r.(?) p.(=) - pathogenic g.143013303A>T g.143316210A>T - - CLCN1_000003 - George 1994, Sloan Brown 1996, Sloan Brown and George 1997 - - Germline - - - - - Johan den Dunnen
+/+ 2 5 c.568G>M r.(?) p.(Gly190Arg) - pathogenic g.g143018813G>M - G190R - CLCN1_000028 - Laboratory for Diagnostic Genome Analyses - - Germline - - - - - Johan den Dunnen
?/? 1 9 c.? r.(?) p.(=) - VUS g.? - 1017+56G>A - CLCN1_000072 - - - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.47G>A r.(?) p.(Trp16Ter) - likely pathogenic g.143013352G>A g.143316259G>A - - CLCN1_000331 - PubMed: Ganapathy 2019 - rs769092535 Germline - - - - - Johan den Dunnen
+/. 1 - c.53_65del r.(?) p.(Ser18Thrfs*55) - pathogenic g.143013358_143013370del g.143316265_143316277del - - CLCN1_000272 - - - - Germline - - - - - Andreas Laner
-?/., ?/. 2 - c.86A>C r.(?) p.(His29Pro) - likely benign, VUS g.143013391A>C g.143316298A>C - - CLCN1_000273 3 heterozygous, no homozygous; Clinindb (India), PolyPhen2: poss.damag.(PSIC: 0,15) PubMed: Narang 2020, Journal: Narang 2020 - rs146160029 Germline - 3/2795 individuals - - - Andreas Laner, Mohammed Faruq
?/? 1 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 - - - - - Birgit Neitzel
+/+ 1 1 c.98A>C r.(?) p.(Tyr33Cys) - pathogenic g.143013403A>C g.143316310A>C - - CLCN1_000004 - - - - Germline - - - - - Johan den Dunnen
-?/. 1 - 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
?/. 1 - 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 1 c.178C>T r.(?) p.(Gln60*) - pathogenic g.143013483C>T g.143316390C>T - - CLCN1_000182 - - - - Germline - - - - - Birgit Neitzel
+/+, +/., +/?, +?/. 13 1i c.180+3A>T r.(?), r.(spl?), r.spl, r.spl? p.(?), p.? ACMG likely pathogenic, pathogenic g.143013488A>T g.143316395A>T - - CLCN1_000005 VKGL data sharing initiative Nederland, 1 more item Ginjaar, unpublished, Sun 2001 - rs202217420 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Birgit Neitzel, Andreas Laner, VKGL-NL_Nijmegen
?/. 1 - c.181-44T>C r.(=) p.(=) - VUS g.143016804T>C g.143319711T>C - - CLCN1_000264 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.181-43A>C r.(=) p.(=) - VUS g.143016805A>C g.143319712A>C - - CLCN1_000265 - - - - Germline - - - - - Andreas Laner
+/+ 2 2 c.202C>T r.(?) p.(Gln68*) - pathogenic g.143016869C>T g.143319776C>T - - CLCN1_000167 - Zhang 1996 - - Germline - - - - - Johan den Dunnen
+/+, +/. 4 2 c.220C>T r.(?) p.(Gln74*) ACMG pathogenic, pathogenic (recessive) g.143016887C>T g.143319794C>T - - CLCN1_000006 ACMG: PVS1, PM3, PM2_SUP Mailander 1996, PMID: 8571958, 24349310 VCV000462829.2 rs1554434400 Germline yes - - - - Johan den Dunnen, Andreas Laner
+/. 1 - c.243_249del r.(?) p.(Lys81Asnfs*28) - pathogenic g.143016910_143016916del g.143319817_143319823del - - CLCN1_000266 - - - rs140311 Germline - - - - - Andreas Laner
+?/. 1 2 c.244A>G r.(?) p.(Thr82Ala) - likely pathogenic g.143016911A>G g.143319818A>G - - CLCN1_000283 - - - - Germline - - - - - Raffaella Brugnoni
-/-, -/., -/? 101 2 c.261C>T r.(?) p.(=), p.(Thr87=), p.(Thr87Thr) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Birgit Neitzel, VKGL-NL_Nijmegen
+?/. 1 - c.264G>A r.(?) p.(Val88=) - likely pathogenic g.143016931G>A g.143319838G>A - - CLCN1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.301+1G>C r.spl? p.(=) - VUS g.143016969G>C g.143319876G>C - - CLCN1_000267 - - - - Germline - - - - - Andreas Laner
-/-, -/? 23 2i c.301+27T>A r.(?) p.(=), p.(?) - benign g.143016995T>A g.143319902T>A - - CLCN1_000008 - - - - Germline - - - - - Johan den Dunnen, Birgit Neitzel
-/. 1 - c.302-4C>T r.spl? p.? - benign g.143017753C>T g.143320660C>T - - CLCN1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 11 2i c.302-2A>C r.spl, r.spl? p.? - pathogenic g.143017755A>C g.143320662A>C - - CLCN1_000010 VKGL data sharing initiative Nederland Ginjaar, unpublished, Laboratory for Diagnostic Genome Analyses - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Ieke Ginjaar, VKGL-NL_Nijmegen
+/+, +/. 12 2i c.302-1G>A r.spl, r.spl? p.? - pathogenic g.143017756G>A g.143320663G>A - - CLCN1_000009 - Ginjaar, unpublished, Laboratory for Diagnostic Genome Analyses - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
?/. 1 - c.305G>T r.(?) p.(Cys102Phe) - VUS g.143017760G>T - CLCN1(NM_000083.2):c.305G>T (p.C102F) - CLCN1_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/., +?/., ?/. 7 3 c.313C>T r.(?) p.(Arg105Cys), p.Arg105Cys ACMG likely pathogenic, pathogenic, VUS g.143017768C>T g.143320675C>T - - CLCN1_000011 1 more item Ginjaar, unpublished, Meyer-Kleine 1995, PubMed: Yu 2017 - rs201509501 Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Andreas Laner, Raffaella Brugnoni
-?/., ?/? 2 3 c.314G>A r.(?) p.(Arg105His) - likely benign, VUS g.143017769G>A g.143320676G>A - - CLCN1_000183 VKGL data sharing initiative Nederland, 1 more item - - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, VKGL-NL_Nijmegen
-/. 1 - c.316C>G r.(?) p.(Leu106Val) - benign g.143017771C>G g.143320678C>G CLCN1(NM_000083.2):c.316C>G (p.L106V) - CLCN1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.352= r.(=) p.(Trp118=) - benign g.143017807G>T g.143320714G>T CLCN1(NM_000083.3):c.352G>T (p.G118W) - CLCN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/-, -/? 18 3 c.352G>T r.(?) p.(Gly118Trp), p.(Trp118Gly) - benign g.143017807G>T g.143320714G>T - - CLCN1_000012 1 more item - - - Germline - - - - - Johan den Dunnen, Birgit Neitzel
+/. 1 - c.373G>A r.(?) p.(Gly125Arg) - pathogenic g.143017828G>A g.143320735G>A - - CLCN1_000268 prob. path. - - - Germline - - - - - Andreas Laner
+/+ 1 3 c.382A>G r.(?) p.(Met128Val) - pathogenic g.143017837A>G g.143320744A>G - - CLCN1_000013 - Colding-Jörgensen 2003 - - Germline - - - - - Johan den Dunnen
+/+, +/. 3 3 c.385G>A r.(?) p.(Ala129Thr) - pathogenic g.143017840G>A g.143320747G>A - - CLCN1_000014 - Ginjaar, unpublished - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
+/+ 1 3 c.394A>T r.(?) p.(Ser132Cys) - pathogenic g.143017849A>T g.143320756A>T - - CLCN1_000015 - Wu 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.399G>A r.(?) p.(Trp133*) - pathogenic g.143017854G>A g.143320761G>A - - CLCN1_000269 - - - - Germline - - - - - Andreas Laner
+/+, +/. 4 3 c.407A>G r.(?) p.(Asp136Gly) - pathogenic g.143017862A>G g.143320769A>G - - CLCN1_000016 - Heine 1994, Heine 1994; Meyer-Kleine 1995; Mailander 1996 ref func:Fahlke 1995/ Pusch 1996 - - Germline - - - - - Johan den Dunnen, Andreas Laner
+?/., ?/? 2 3 c.409T>G r.(?) p.(Tyr137As), p.(Tyr137Asp) - likely pathogenic, VUS g.143017864T>G g.143320771T>G - - CLCN1_000184 combination of variants not reported, unclassified variant PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen, Birgit Neitzel
+/+ 2 3 c.411C>G r.(?) p.(Tyr137*) - pathogenic g.143017866C>G g.143320773C>G - - CLCN1_000017 - - - - Germline - - - - - Johan den Dunnen
?/. 1 3i c.434-2_435dup r.spl? p.? - VUS g.143018456_143018459dup g.143321363_143321366dup 434-5_434-4insGCA - CLCN1_000281 - - - - Unknown ? - - - - Carmen Palma
?/? 1 3i c.435-91C>T r.(?) p.(?) - VUS g.143018368C>T g.143321275C>T - - CLCN1_000186 1 more item - - - Germline - - - - - Birgit Neitzel
+/+ 1 4 c.449A>G r.(?) p.(Tyr150Cys) - pathogenic g.143018473A>G g.143321380A>G - - CLCN1_000018 - Mailander 1996 ref func:Wollnik 1997 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.450C>A r.(?) p.(Tyr150*) ACMG likely pathogenic g.143018474C>A g.143321381C>A - - CLCN1_000325 ACMG grading: PVS1,PM2 24y old male, severe Myotonia, positive family history of Myotonia - - - Germline - - - - - Andreas Laner
-/? 1 4 c.450C>T r.(?) p.(Tyr150Tyr) - benign g.143018474C>T g.143321381C>T - - CLCN1_000187 - - - - Germline - - - - - Birgit Neitzel
-/., ?/? 3 4 c.461A>G r.(?) p.(Gln154Arg) - benign, VUS g.143018485A>G g.143321392A>G - - CLCN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - 0/200 - - - Johan den Dunnen, Fernando Morales, VKGL-NL_Nijmegen
+/. 2 4 c.478C>T r.(?) p.(Gln160*) - pathogenic g.143018502C>T g.143321409C>T - - CLCN1_000271 - - - rs80411 Germline - - - - - Andreas Laner, Raffaella Brugnoni
+/?, +?/. 3 4 c.480G>C r.(?) p.(Gln160His) - likely pathogenic, pathogenic g.143018504G>C g.143321411G>C - - CLCN1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, VKGL-NL_Nijmegen
+/+ 1 4 c.481T>G r.(?) p.(Phe161Val) - pathogenic g.143018505T>G g.143321412T>G - - CLCN1_000020 - Plassart-Schiess 1998 - - Germline - - - - - Johan den Dunnen
?/? 1 4 c.490T>C r.(?) p.(Trp164Arg) - VUS g.143018514T>C g.143321421T>C - - CLCN1_000190 unclassified variant - - - Germline - - - - - Birgit Neitzel
+/+ 1 4 c.494T>G r.(?) p.(Val165Gly) - pathogenic g.143018518T>G g.143321425T>G - - CLCN1_000021 - Meyer-Kleine 1995 ref func:Zhang 2000a - - Germline - - - - - Johan den Dunnen
+/+, +/., +/?, +?/+, +?/., ?/. 31 4 c.501C>G r.(?) p.(Phe167Leu), p.Phe167Leu ACMG likely pathogenic, pathogenic, VUS g.143018525C>G g.143321432C>G - - CLCN1_000022 2 more items George 1994; Meyer-Kleine 1995 ref func:Zhang 2000a, Ginjaar, unpublished, Papuc et al., submitted, 1 more item - rs149729531 Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, Ieke Ginjaar, Birgit Neitzel, Andreas Laner, Carmen Palma, Raffaella Brugnoni, Anaïs Begemann, Helen Latsoudis
-?/. 1 - c.531C>T r.(?) p.(Leu177=) - likely benign g.143018555C>T g.143321462C>T CLCN1(NM_000083.2):c.531C>T (p.L177=) - CLCN1_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/? 2 4 c.537C>G r.(?) p.(Cys179Trp) - pathogenic, VUS g.143018561C>G g.143321468C>G - - CLCN1_000023 - Ginjaar, unpublished - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
?/? 1 4 c.557C>T r.(?) p.(Ala186Val) - VUS g.143018581C>T g.143321488C>T - - CLCN1_000024 - - - - Germline - - - - - Johan den Dunnen
+/. 1 - c.562+1G>C r.spl? p.? - pathogenic g.143018587G>C g.143321494G>C - - CLCN1_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 4i c.562+29A>G r.(?) p.(=) - VUS g.143018615A>G g.143321522A>G - - CLCN1_000025 - - - - Germline - - - - - Johan den Dunnen
-/-, -/? 17 4i c.563-23A>T r.(?) p.(=), p.(?) - benign g.143018785A>T g.143321692A>T - - CLCN1_000027 - - - - Germline - - - - - Johan den Dunnen, Birgit Neitzel
?/? 2 4i c.563-17T>G r.(?) p.(=) - VUS g.143018791T>G g.143321698T>G - - CLCN1_000026 - - - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.563-9C>T r.(=) p.(=) - likely benign g.143018799C>T - CLCN1(NM_000083.2):c.563-9C>T - CLCN1_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 5 c.563G>C r.(?) p.(Gly188Ala) - likely pathogenic g.143018808G>C g.143321715G>C - - CLCN1_000284 - - - - Germline - - - - - Raffaella Brugnoni
+?/. 1 5 c.563G>T r.(spl?) p.(Gly188Val) - likely pathogenic g.143018808G>T g.143321715G>T - - CLCN1_000277 - - - - Germline - - - - - Carmen Palma
+/., +/?, +?/., ?/. 8 5 c.568G>A r.(?) p.(Gly190Arg), p.(Gly190His) - likely pathogenic, pathogenic, VUS g.143018813G>A g.143321720G>A - - CLCN1_000185 PolyPhen-2: prob.dam. (PSIC:1,0), MutTaster: dis.causing (0,99); index mother normal Ginjaar, unpublished - - Germline yes - - - CarmenPalma Ieke Ginjaar, Birgit Neitzel, Andreas Laner, Carmen Palma
+/? 1 5 c.568G>C r.(?) p.(Gly190Ala) - pathogenic g.143018813G>C g.143321720G>C - - CLCN1_000193 - - - - Germline - - - - - Birgit Neitzel
+/+, +/? 2 5 c.568G>T r.(?) p.(Gly190*) - pathogenic g.143018813G>T g.143321720G>T - - CLCN1_000029 - - - - Germline - - - - - Johan den Dunnen, Birgit Neitzel
+/. 4 5 c.568_569delinsTC r.(?) p.(Gly190Ser) - pathogenic, pathogenic (recessive) g.143018813_143018814delinsTC g.143321720_143321721delinsTC c.568-569GG>TC, c.568GG>TC - CLCN1_000282 - Ginjaar, unpublished - - Germline - - - - - Ieke Ginjaar, Raffaella Brugnoni, Evgeniya Ivanova
+/+ 1 5 c.569C>G r.(?) p.(Gly190Ala) - pathogenic g.143018814C>G g.143321721C>G - - CLCN1_000030 1 more item - - - Germline - - - - - Johan den Dunnen
+/+, +/. 2 5 c.577G>A r.(?) p.(Glu193Lys) - pathogenic g.143018822G>A g.143321729G>A - - CLCN1_000031 - Colding-Jorgensen 2003;Grunnet 2003 - rs80356686 Germline - - - - - Johan den Dunnen, Andreas Laner
+/+ 3 5 c.577G>T r.(?) p.(Glu193*) - pathogenic g.143018822G>T g.143321729G>T - - CLCN1_000032 - Wu 2002 - - Germline - - - - - Johan den Dunnen
+/+, +/. 4 5 c.585_589del r.(?) p.(Lys195Asnfs*62) - pathogenic g.143018830_143018834del g.143321737_143321741del - - CLCN1_000033 - Ginjaar, unpublished, Laboratory for Diagnostic Genome Analyses - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
+/+, +/? 4 5 c.592C>G r.(?) p.(Leu198Val) - pathogenic g.143018837C>G g.143321744C>G - - CLCN1_000034 - Simpson 2004 - - Germline - - - - - Johan den Dunnen, Birgit Neitzel
+?/. 1 5 c.593T>A r.(?) p.(Leu198His) - likely pathogenic g.143018838T>A g.143321745T>A - - CLCN1_000212 - - - - Germline - - - - - Raffaella Brugnoni
+/. 1 5 c.593T>C r.(?) p.(Leu198Pro) - pathogenic g.143018838T>C g.143321745T>C - - CLCN1_000285 - - - - Germline - - - - - Raffaella Brugnoni
?/. 1 - c.596G>A r.(?) p.(Arg199His) - VUS g.143018841G>A - CLCN1(NM_000083.2):c.596G>A (p.R199H) - CLCN1_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 5 c.598G>A r.(?) p.(Gly200Arg) - pathogenic g.143018843G>A g.143321750G>A - - CLCN1_000035 - Mailander 1996 ref func:Wollnik 1997 - - Germline - - - - - Johan den Dunnen
?/? 1 5 c.599G>A r.(?) p.(Gly200Glu) - VUS g.143018844G>A g.143321751G>A - - CLCN1_000036 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.601dup r.(?) p.(Val201Glyfs*58) - pathogenic g.143018846dup g.143321753dup - - CLCN1_000037 - Esteban 1998 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.601G>A r.(?) p.(Val201Ile) - VUS g.143018846G>A g.143321753G>A - - CLCN1_000246 Polyphen-2: probably damaging (PSIC: 0,966) - - - Germline - - - - - Andreas Laner
?/. 1 - c.613G>A r.(?) p.(Glu205Lys) - VUS g.143018858G>A g.143321765G>A - - CLCN1_000247 PolyPhen-2: prob.damaging (PSIC 0.99) - - - Germline - - - - - Andreas Laner
+?/? 1 5 c.650T>A r.(?) p.Val217Asp - likely pathogenic g.143018895T>A g.143321802T>A - - CLCN1_000215 - - - - Unknown - - - - - Raffaella Brugnoni
+/+, ?/. 2 5 c.652G>A r.(?) p.(Ala218Thr) - pathogenic, VUS g.143018897G>A g.143321804G>A - - CLCN1_000038 1 heterozygous, no homozygous; Clinindb (India) de Diego 1999, PubMed: Narang 2020, Journal: Narang 2020 - rs189963844 Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
?/. 1 - c.663G>A r.(=) p.(=) - VUS g.143018908G>A g.143321815G>A - - CLCN1_000248 LOVD - - - Germline - - - - - Andreas Laner
-/- 1 5 c.663G>T r.(?) p.(Ala221Ala) - benign g.143018908G>T g.143321815G>T - - CLCN1_000041 - - - - Germline - - - - - Johan den Dunnen
?/. 1 5 c.677G>A r.(?) p.(Gly226Asp) - VUS g.143018922G>A g.143321829G>A - - CLCN1_000332 - 0 - rs1304529237 Germline - - - - - LOVD
?/. 1 - c.685G>A r.(?) p.(Val229Met) - VUS g.143018930G>A g.143321837G>A - - CLCN1_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +?/. 6 5 c.689G>A r.(?) p.(Gly230Glu) - likely pathogenic, pathogenic g.143018934G>A g.143321841G>A - - CLCN1_000039 VKGL data sharing initiative Nederland George 1994; Meyer-Kleine 1995; Koty - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - c.696G>A r.(?) p.(Glu232Glu) ACMG likely pathogenic g.143018941G>A g.143321848G>A - - CLCN1_000323 ACMG: PM2,PM3,PP3,PP4 - - rs923380712 Germline - - - - - Andreas Laner
+/+ 1 5i c.696+2T>A r.spl p.? - pathogenic g.143018943T>A g.143321850T>A - - CLCN1_000040 - Brugnoni 1999 - - Germline - - - - - Johan den Dunnen
+/+, +/. 3 6 c.697G>A r.(?) p.(Gly233Ser) - pathogenic g.143020402G>A g.143323309G>A, g.143323309G>C - - CLCN1_000307 1 more item Ginjaar, unpublished - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
+/+ 1 6 c.697G>C r.(?) p.(Gly233Ser) - pathogenic g.143020402G>C g.143323309G>C - - CLCN1_000042 - Laboratory for Diagnostic Genome Analyses - - Germline - - - - - Johan den Dunnen
+/+ 2 6 c.706G>C r.(?) p.(Val236Leu) - pathogenic g.143020411G>C g.143323318G>C - - CLCN1_000043 - Kubisch 1998, Kubisch 1998 ref func:Kubisch 1998 - - Germline - - - - - Johan den Dunnen
+/? 1 6 c.707T>C r.(?) p.(Val236Ala) - pathogenic g.143020412T>C g.143323319T>C - - CLCN1_000194 - - - - Germline - - - - - Birgit Neitzel
+/. 1 6 c.730G>T r.(?) p.(Ala244Ser) - pathogenic g.143020435G>T g.143323342G>T - - CLCN1_000286 - - - - Germline - - - - - Raffaella Brugnoni
+?/. 1 6 c.742A>T r.(?) p.(Lys248*) - likely pathogenic g.143020447A>T g.143323354A>T - - CLCN1_000280 - - - - Unknown ? - - - - Carmen Palma
+/+ 2 6 c.763G>T r.(?) p.(Gly255Trp) - pathogenic g.143020468G>T g.143323375G>T - - CLCN1_000044 - Laboratory for Diagnostic Genome Analyses - - Germline - - - - - Johan den Dunnen
+/., ?/? 3 6 c.774G>A r.(?) p.(Glu258Glu) - pathogenic, VUS g.143020479G>A g.143323386G>A - - CLCN1_000045 - Ginjaar, unpublished - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
+/., +?/. 5 6i c.774+1G>A r.spl p.? - likely pathogenic, pathogenic g.143020480G>A g.143323387G>A - - CLCN1_000225 - Ginjaar, unpublished - - Germline, Unknown - - - - - Ieke Ginjaar, Uschi Peeters
+/+ 3 7 c.782A>G r.(?) p.(Thr261Cys) - pathogenic g.143021514A>G g.143324421A>G - - CLCN1_000046 - Mailander 1996, Mailander 1996 ref func:Wollnik 1997 - - Germline - - - - - Johan den Dunnen
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