Full data view for gene CLCN4

Information The variants shown are described using the NM_001830.3 transcript reference sequence.

192 entries on 2 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     
+/. - :c.823G>A r.(?) p.(Val275Met) Unknown - pathogenic g.10174796G>A g.10206756G>A - - CLCN4_000081 - PubMed: Palmer 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID FamN PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - United States white - - - - 1 Johan den Dunnen
?/. - c.-4376633_*275742del r.0? p.0? Unknown ACMG VUS g.5748782_10477366del g.5830745_10559329del chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous - NLGN4X_000080 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - clinical exome sequencing | aCGH retinal disease RP-1018 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
?/. - c.-12+4577G>C r.(?) p.(=) Unknown - VUS g.10131168G>C g.10163128G>C - - CLCN4_000073 - - - - De novo - - - - - DNA SEQ-NG - - MRXSBL;MRX60 - - - F no - - - - - - 1 Chunli Wang
+?/. - c.? r.0? p.0? Unknown ACMG likely pathogenic g.146618988_147825523dup[3] g.147147409_148353395dup[3] chr1, g.146618988-147825523dup, arr([GRCh37] 1q21.1q21.2(146,618,988-147,825,523)x3), heterozygous - CLCN4_000001 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - clinical exome sequencing | aCGH retinal disease RP-1321 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.2T>C r.(?) p.? Unknown - likely pathogenic g.10153074T>C - CLCN4(NM_001830.3):c.2T>C (p.(Met1?)) - CLCN4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.43G>A r.(?) p.(Asp15Asn) Unknown - pathogenic g.10153115G>A g.10185075G>A - - CLCN4_000079 - PubMed: Palmer 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID FamK PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - United States white - - - - 1 Johan den Dunnen
+/. 3 c.43_55del r.(?) p.(Asp15Serfs*18) Maternal (confirmed) - pathogenic (recessive) g.10153115_10153127del g.10185075_10185087del Asp15Serfs*18 - CLCN4_000035 - PubMed: Hu 2016, PubMed: Palmer 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX FamMRX49/L19;FamA PubMed: Hu 2016, PubMed: Palmer 2018 4-generation family, 7 affected (2F, 5M) F;M - Belgium - - - - - 4 Johan den Dunnen
?/. - c.59C>T r.(?) p.(Pro20Leu) Unknown - VUS g.10153131C>T - CLCN4(NM_001830.4):c.59C>T (p.P20L) - CLCN4_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.87C>G r.(?) p.(Asp29Glu) Maternal (confirmed) - VUS g.10153159C>G g.10185119C>G - - CLCN4_000088 - PubMed: Palmer 2022 SCV002525740 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD D1 PubMed: Palmer 2022 family, 3 affected (half-)brothers, unaffected carrier mother M - England - - - - - 3 Johan den Dunnen
?/. - c.87C>G r.(?) p.(Asp29Glu) Maternal (confirmed) - VUS g.10153159C>G g.10185119C>G - - CLCN4_000088 - PubMed: Palmer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD D1brother PubMed: Palmer 2022 brother M - England - - - - - 1 Johan den Dunnen
?/. - c.87C>G r.(?) p.(Asp29Glu) Maternal (confirmed) - VUS g.10153159C>G g.10185119C>G - - CLCN4_000088 - PubMed: Palmer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD D1mother PubMed: Palmer 2022 mother F - England - - - - - 1 Johan den Dunnen
?/. - c.100G>A r.(?) p.(Asp34Asn) Maternal (confirmed) - VUS g.10153172G>A g.10185132G>A - - CLCN4_000089 - PubMed: Palmer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - DBQD, NDD C1 PubMed: Palmer 2022 2-generation family, affected brother/sister, asymptomatic carrier mother M - - Europe;white - - - - 2 Johan den Dunnen
+?/. - c.144+2T>G r.spl? p.? Unknown - likely pathogenic g.10153218T>G g.10185178T>G CLCN4(NM_001830.4):c.144+2T>G - CLCN4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145-4C>A r.spl? p.? Unknown - likely benign g.10155551C>A g.10187511C>A CLCN4(NM_001830.4):c.145-4C>A - CLCN4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.185A>G r.(?) p.(Lys62Arg) Unknown - likely pathogenic g.10155595A>G g.10187555A>G - - CLCN4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185A>G r.(?) p.(Lys62Arg) Maternal (confirmed) - VUS g.10155595A>G g.10187555A>G - - CLCN4_000036 - PubMed: Palmer 2022 SCV002525715 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A1 PubMed: Palmer 2022 2-generation family, 2 affected half-brothers, asymptomatic carrier mother, half brother severe autism, maternal half sister mild autism M - Netherlands white - - - - 2 Johan den Dunnen
?/. - c.206C>T r.(?) p.(Ser69Leu) Maternal (confirmed) - VUS g.10155616C>T g.10187576C>T - - CLCN4_000090 - PubMed: Palmer 2022 SCV002525738 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD C2 PubMed: Palmer 2022 2-generation family, 1 affected, asymptomatic carrier mother M - Lebanon - - - - - 1 Johan den Dunnen
+/. 4 c.232G>A r.(?) p.(Gly78Ser) Unknown - pathogenic (recessive) g.10155642G>A g.10187602G>A Gly78Ser - CLCN4_000033 - PubMed: Hu 2016, PubMed: Palmer 2018 SCV000297912.2 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX FamN70;FamD PubMed: Hu 2016, PubMed: Palmer 2018 2-generation family, 1 affected M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.265G>A r.(?) p.(Asp89Asn) Unknown ACMG VUS g.10162971G>A g.10194931G>A - - CLCN4_000070 - - - - De novo - - - - - DNA SEQ-NG - - MRXSBL;MRX60 - - - F no China - - - - - 1 Chunli Wang
?/. - c.265G>A r.(?) p.(Asp89Asn) Unknown - VUS g.10162971G>A g.10194931G>A - - CLCN4_000070 - PubMed: Palmer 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD B1 PubMed: Palmer 2022 family, 1 affected F - France white - - - - 1 Johan den Dunnen
+/. - c.265G>A r.(?) p.(Asp89Asn) Unknown - pathogenic g.10162971G>A g.10194931G>A - - CLCN4_000070 - PubMed: Palmer 2022 SCV001468990.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD B2 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.274G>A r.(?) p.(Val92Met) Paternal (confirmed) - VUS g.10162980G>A g.10194940G>A - - CLCN4_000091 - PubMed: Palmer 2022 SCV000920556.1 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A3 PubMed: Palmer 2022 2-generstion family, 3 affected females, affected father; to date only proband and father tested F - France white - - - - 4 Johan den Dunnen
?/. - c.274G>A r.(?) p.(Val92Met) Unknown - VUS g.10162980G>A g.10194940G>A - - CLCN4_000091 - PubMed: Palmer 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A3father PubMed: Palmer 2022 father M - France white - - - - 1 Johan den Dunnen
?/. - c.314C>G r.(?) p.(Ser105Cys) Unknown - VUS g.10163020C>G g.10194980C>G - - CLCN4_000092 - PubMed: Palmer 2022 SCV002003533.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D2 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.314C>G r.(?) p.(Ser105Cys) Unknown - VUS g.10163020C>G g.10194980C>G - - CLCN4_000092 - PubMed: Palmer 2022 SCV000549937.4 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D3 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.422A>G r.(?) p.(Asn141Ser) Maternal (confirmed) ACMG VUS g.10163128A>G g.10195088A>G - - CLCN4_000071 - - - - Germline - - - - - DNA SEQ-NG - - MRXSBL;MRX60 - - - F no China - - - - - 1 Chunli Wang
?/. - c.432+216_432+217del r.(=) p.(=) Unknown - VUS g.10163354_10163355del g.10195314_10195315del - - CLCN4_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.432+216_432+217del r.(=) p.(=) Unknown - VUS g.10163354_10163355del g.10195314_10195315del - - CLCN4_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.432+232_432+233del r.(=) p.(=) Unknown - VUS g.10163370_10163371del g.10195330_10195331del - - CLCN4_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.433G>A r.(?) p.(Gly145Ser) Unknown - likely benign g.10165979G>A - - - CLCN4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466T>C r.(?) p.(Tyr156His) Unknown - VUS g.10166012T>C - CLCN4(NM_001830.4):c.466T>C (p.Y156H) - CLCN4_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.486G>A r.(?) p.(Leu162=) Unknown - likely benign g.10166032G>A - CLCN4(NM_001830.3):c.486G>A (p.L162=) - CLCN4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555+97A>C r.(=) p.(=) Maternal (inferred) - VUS g.10166198A>C g.10198158A>C - - CLCN4_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.555+97A>C r.(=) p.(=) Maternal (inferred) - VUS g.10166198A>C g.10198158A>C - - CLCN4_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.608C>T r.(?) p.(Thr203Ile) Maternal (confirmed) - likely pathogenic g.10174450C>T g.10206410C>T - - CLCN4_000093 - PubMed: Palmer 2022 SCV002525716 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A4 PubMed: Palmer 2022 3-generation family, affected (son), mildly affected heterozygous mother M - - white - - - - 2 Johan den Dunnen
+?/. - c.608C>T r.(?) p.(Thr203Ile) Unknown - likely pathogenic g.10174450C>T g.10206410C>T - - CLCN4_000093 - PubMed: Palmer 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD A4mother PubMed: Palmer 2022 mother F - - white - - - - 1 Johan den Dunnen
?/. - c.635T>G r.(?) p.(Val212Gly) Parent #1 - VUS g.10174477T>G g.10206437T>G - - CLCN4_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.635T>G r.(?) p.(Val212Gly) Maternal (confirmed) - pathogenic g.10174477T>G g.10206437T>G - - CLCN4_000026 - PubMed: Palmer 2018 SCV000245780.1 - Germline - - - - - DNA SEQ, SEQ-NG - - ID FamG PubMed: Palmer 2018 3-generation family, 5 affected brothers (5M) M - Australia white - - - - 5 Johan den Dunnen
-?/. - c.651C>T r.(?) p.(Ser217=) Unknown - likely benign g.10174493C>T g.10206453C>T CLCN4(NM_001830.4):c.651C>T (p.(Ser217=), p.S217=) - CLCN4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651C>T r.(?) p.(Ser217=) Unknown - benign g.10174493C>T - CLCN4(NM_001830.4):c.651C>T (p.(Ser217=), p.S217=) - CLCN4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.661C>G r.(?) p.(Leu221Val) Maternal (confirmed) - pathogenic (recessive) g.10174503C>G g.10206463C>G Leu221Val - CLCN4_000032 - PubMed: Hu 2016, PubMed: Palmer 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX FamAU27;FamE PubMed: Hu 2016, PubMed: Palmer 2018 5-generation family, 4 affected (5M), 1 unaffected carrier female M - Australia - - - - - 4 Johan den Dunnen
+/. - c.662T>C r.(?) p.(Leu221Pro) Unknown - pathogenic g.10174504T>C g.10206464T>C - - CLCN4_000080 - PubMed: Palmer 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID FamH PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - United States white - - - - 1 Johan den Dunnen
+?/. - c.677C>T r.(?) p.(Pro226Leu) Unknown - likely pathogenic g.10174519C>T g.10206479C>T - - CLCN4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677C>T r.(?) p.(Pro226Leu) Unknown - VUS g.10174519C>T g.10206479C>T - - CLCN4_000037 - PubMed: Palmer 2022 SCV002525717 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD A6 PubMed: Palmer 2022 family, 1 affected M - Turkey - - - - - 1 Johan den Dunnen
?/. - c.688G>A r.(?) p.(Val230Met) Unknown - VUS g.10174530G>A g.10206490G>A CLCN4(NM_001256944.1):c.406G>A (p.(Val136Met)) - CLCN4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712T>C r.(?) p.(Phe238Leu) Unknown - VUS g.10174554T>C g.10206514T>C - - CLCN4_000094 - PubMed: Palmer 2022 SCV000570777.4 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D4 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.718A>G r.(?) p.(Ser240Gly) Unknown - likely benign g.10174560A>G g.10206520A>G CLCN4(NM_001830.3):c.718A>G (p.S240G) - CLCN4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.747G>A r.(?) p.(Glu249=) Unknown - likely benign g.10174589G>A - CLCN4(NM_001830.3):c.747G>A (p.E249=) - CLCN4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.762+2T>C r.spl? p.? Unknown - likely pathogenic g.10174606T>C - CLCN4(NM_001830.4):c.762+2T>C - CLCN4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.804T>G r.(?) p.(Phe268Leu) Unknown - pathogenic g.10174777T>G g.10206737T>G - - CLCN4_000095 - PubMed: Palmer 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD B3 PubMed: Palmer 2022 family, 1 affected F - - white - - - - 1 Johan den Dunnen
+?/. - c.806G>A r.(?) p.(Gly269Asp) Unknown - likely pathogenic g.10174779G>A g.10206739G>A - - CLCN4_000096 - PubMed: Palmer 2022 SCV000607256.1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD A7 PubMed: Palmer 2022 family, 1 affected F - Canada white - - - - 1 Johan den Dunnen
+?/. - c.806G>A r.(?) p.(Gly269Asp) Unknown - likely pathogenic g.10174779G>A g.10206739G>A - - CLCN4_000096 - PubMed: Palmer 2022 SCV00058636.4 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A8 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.814A>G r.(?) p.(Ile272Val) Unknown - VUS g.10174787A>G g.10206747A>G - - CLCN4_000097 - PubMed: Palmer 2022 SCV000742044.2 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A9 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.822C>T r.(?) p.(Gly274=) Unknown - likely benign g.10174795C>T - CLCN4(NM_001830.3):c.822C>T (p.G274=) - CLCN4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.823G>A r.(?) p.(Val275Met) Unknown - pathogenic g.10174796G>A g.10206756G>A - - CLCN4_000081 - PubMed: Palmer 2022 SCV000577686.4 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A12 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.823G>C r.(?) p.(Val275Leu) Maternal (confirmed) - VUS g.10174796G>C g.10206756G>C - - CLCN4_000098 - PubMed: Palmer 2022 SCV002525718 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A10 PubMed: Palmer 2022 3-generation family, 1 affected, heterozygous carrier mother M - - white - - - - 2 Johan den Dunnen
?/. - c.826C>T r.(?) p.(Leu276Phe) Maternal (confirmed) - VUS g.10174799C>T g.10206759C>T - - CLCN4_000099 - PubMed: Palmer 2022 SCV002525719 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A13 PubMed: Palmer 2022 2-generation family, 1 affected, asymptomatic carrier mother M - - Arab 4y - - - 2 Johan den Dunnen
?/. - c.832A>C r.(?) p.(Ser278Arg) Unknown - VUS g.10174805A>C g.10206765A>C - - CLCN4_000100 - PubMed: Palmer 2022 SCV000549940.2 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A14 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.832A>C r.(?) p.(Ser278Arg) Unknown - VUS g.10174805A>C g.10206765A>C - - CLCN4_000100 - PubMed: Palmer 2022 SCV001542314.4 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A15 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.835C>G r.(?) p.(Leu279Val) Unknown - likely pathogenic g.10174808C>G g.10206768C>G - - CLCN4_000101 - PubMed: Palmer 2022 SCV002525720 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD A16 PubMed: Palmer 2022 family, 1 affected F - - white - - - - 1 Johan den Dunnen
+?/. - c.840A>T r.(?) p.(Glu280Asp) Unknown - likely pathogenic g.10174813A>T g.10206773A>T - - CLCN4_000102 - PubMed: Palmer 2022 SCV002525721 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD A17 PubMed: Palmer 2022 family, 1 affected M - - white - - - - 1 Johan den Dunnen
?/. - c.844-1G>A r.spl? p.? Unknown - VUS g.10176084G>A - CLCN4(NM_001830.4):c.844-1G>A - CLCN4_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A r.(?) p.(Val282Ile) Unknown ACMG VUS g.10176085G>A g.10208045G>A NM_001256944.1:c.562G>A:p.Val188Ile - CLCN4_000064 - PubMed: Monies et al 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - NDD UPN-1267 PubMed: Monies et al 2019 - F no Saudi Arabia - - - - - 1 Alexander Groffen
?/. - c.848G>A r.(?) p.(Ser283Asn) Unknown - VUS g.10176089G>A g.10208049G>A - - CLCN4_000103 - PubMed: Palmer 2022 SCV002525722 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD A18 PubMed: Palmer 2022 family, 1 affected F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.925_928del r.(?) p.(Asn309ProfsTer67) Maternal (confirmed) - pathogenic g.10176166_10176169del g.10208126_10208129del - - CLCN4_000104 - PubMed: Palmer 2022 SCV002525744 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD E1 PubMed: Palmer 2022 4-generation family, 2 affected (2M), asymptomatic carrier mother M - - white - - - - 2 Johan den Dunnen
?/. - c.926A>G r.(?) p.(Asn309Ser) Maternal (confirmed) - VUS g.10176167A>G g.10208127A>G - - CLCN4_000105 - PubMed: Palmer 2022 SCV002525723 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A19 PubMed: Palmer 2022 2-generation family, 2 affected brothers, heterozygous carrier mother (47y) M - - white - - - - 2 Johan den Dunnen
?/. - c.926A>G r.(?) p.(Asn309Ser) Maternal (confirmed) - VUS g.10176167A>G g.10208127A>G - - CLCN4_000105 - PubMed: Palmer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A19brother PubMed: Palmer 2022 older brother M - - white - - - - 1 Johan den Dunnen
?/. - c.926A>G r.(?) p.(Asn309Ser) Unknown - VUS g.10176167A>G g.10208127A>G - - CLCN4_000105 - PubMed: Palmer 2022 SCV002032467.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A20 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.928C>T r.(?) p.(Pro310Ser) Unknown - VUS g.10176169C>T g.10208129C>T - - CLCN4_000106 - PubMed: Palmer 2022 SCV002525731 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD B4 PubMed: Palmer 2022 family, 1 affected F - - white - - - - 1 Johan den Dunnen
+?/. - c.944G>A r.(?) p.(Arg315His) Unknown - likely pathogenic g.10176185G>A g.10208145G>A - - CLCN4_000107 - PubMed: Palmer 2022 SCV002525741 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD D5 PubMed: Palmer 2022 family, 1 affected F - Uzbekistan - - - - - 1 Johan den Dunnen
?/. - c.944G>A r.(?) p.(Arg315His) Unknown - VUS g.10176185G>A g.10208145G>A - - CLCN4_000107 - PubMed: Palmer 2022 SCV001480412.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D6 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.944G>A r.(?) p.(Arg315His) Unknown - VUS g.10176185G>A g.10208145G>A - - CLCN4_000107 - PubMed: Palmer 2022 SCV002250535.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D7 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.948C>T r.(?) p.(Leu316=) Unknown - likely benign g.10176189C>T g.10208149C>T CLCN4(NM_001830.3):c.948C>T (p.L316=) - CLCN4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949G>A r.(?) p.(Val317Ile) Parent #1 - VUS g.10176190G>A g.10208150G>A - - CLCN4_000027 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.949G>A r.(?) p.(Val317Ile) Unknown - VUS g.10176190G>A g.10208150G>A - - CLCN4_000027 - PubMed: Palmer 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD B5 PubMed: Palmer 2022 family, 1 affected M - France - - - - - 1 Johan den Dunnen
?/. - c.949G>A r.(?) p.(Val317Ile) Maternal (confirmed) - VUS g.10176190G>A g.10208150G>A - - CLCN4_000027 - PubMed: Palmer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD B6 PubMed: Palmer 2022 2-generation family, affected male, mother mosaic M - Mexico - - - - - 2 Johan den Dunnen
?/. - c.949G>A r.(?) p.(Val317Ile) Unknown - VUS g.10176190G>A g.10208150G>A - - CLCN4_000027 - PubMed: Palmer 2022 - - Somatic - - - - - DNA SEQ, SEQ-NG - - NDD B6mother PubMed: Palmer 2022 mother F - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.949G>A r.(?) p.(Val317Ile) Unknown - likely pathogenic g.10176190G>A g.10208150G>A - - CLCN4_000027 - PubMed: Palmer 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD B7 PubMed: Palmer 2022 family, 1 affected M - - white - - - - 1 Johan den Dunnen
?/. - c.949G>T r.(?) p.(Val317Phe) Unknown - VUS g.10176190G>T g.10208150G>T - - CLCN4_000108 - PubMed: Palmer 2022 SCV000621815.2 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD B8 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.956T>C r.(?) p.(Phe319Ser) Maternal (confirmed) - VUS g.10176197T>C g.10208157T>C - - CLCN4_000109 - PubMed: Palmer 2022 SCV002525724 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A21 PubMed: Palmer 2022 2-generation family, 1 affected, unaffected carrier mother M - Belgium white - - - - 1 Johan den Dunnen
?/. - c.1025G>A r.(?) p.(Gly342Glu) Maternal (confirmed) - VUS g.10176266G>A g.10208226G>A - - CLCN4_000110 - PubMed: Palmer 2022 SCV002525725 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A22 PubMed: Palmer 2022 2-generation family, 1 affected, unaffected mosaic carrier mother - - Scotland white - - - - 1 Johan den Dunnen
?/. - c.1025G>A r.(?) p.(Gly342Glu) Unknown - VUS g.10176266G>A g.10208226G>A - - CLCN4_000110 - PubMed: Palmer 2022 SCV002163577.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A23 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1052G>A r.(?) p.(Arg351His) Unknown - VUS g.10176293G>A - CLCN4(NM_001830.4):c.1052G>A (p.R351H) - CLCN4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078C>A r.(?) p.(Arg360Ser) Maternal (confirmed) - VUS g.10176319C>A g.10208279C>A - - CLCN4_000111 - PubMed: Palmer 2022 SCV002525726 - Germline - - - - - DNA SEQ, SEQ-NG - - NDD A24 PubMed: Palmer 2022 3-generation family, 1 affected, asymptomatic carrier mother M - Iraq - - - - - 2 Johan den Dunnen
?/. - c.1090A>G r.(?) p.(Arg364Gly) Unknown - VUS g.10176331A>G g.10208291A>G - - CLCN4_000112 - PubMed: Palmer 2022 SCV002525742 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D8 PubMed: Palmer 2022 family, 1 affected M - Canada France;white - - - - 1 Johan den Dunnen
-?/. - c.1098G>C r.(?) p.(Gly366=) Unknown - likely benign g.10176339G>C g.10208299G>C - - CLCN4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106C>T r.(?) p.(Pro369Leu) Unknown - VUS g.10176347C>T g.10208307C>T - - CLCN4_000113 - PubMed: Palmer 2022 SCV002525739 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD C3 PubMed: Palmer 2022 family, 1 affected M - - Europe;white - - - - 1 Johan den Dunnen
?/. - c.1106C>T r.(?) p.(Pro369Leu) Unknown - VUS g.10176347C>T g.10208307C>T - - CLCN4_000113 - PubMed: Palmer 2022 SCV001503010.2 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD C4 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1106C>T r.(?) p.(Pro369Leu) Unknown - pathogenic g.10176347C>T g.10208307C>T - - CLCN4_000113 - PubMed: Gostain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMC24 PubMed: Gostain 2020 - M - Canada - - - - - 1 Johan den Dunnen
-?/. - c.1107G>A r.(?) p.(Pro369=) Unknown - likely benign g.10176348G>A - CLCN4(NM_001830.3):c.1107G>A (p.P369=) - CLCN4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1121T>C r.(?) p.(Ile374Thr) Unknown - VUS g.10176362T>C g.10208322T>C - - CLCN4_000114 - PubMed: Palmer 2022 SCV000577573.3 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A25 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1121T>C r.(?) p.(Ile374Thr) Unknown - VUS g.10176362T>C g.10208322T>C - - CLCN4_000114 - PubMed: Palmer 2022 SCV002200551.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD A26 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1171C>T r.(?) p.(Arg391Cys) Unknown - VUS g.10176412C>T - CLCN4(NM_001830.4):c.1171C>T (p.R391C) - CLCN4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1181C>G r.(?) p.(Thr394Ser) Unknown - likely benign g.10176422C>G g.10208382C>G CLCN4(NM_001830.3):c.1181C>G (p.T394S) - CLCN4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1185C>G r.(?) p.(Ser395Arg) Unknown - VUS g.10176426C>G g.10208386C>G - - CLCN4_000115 - PubMed: Palmer 2022 SCV002525733 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD B9 PubMed: Palmer 2022 family, 1 affected F - - white - - - - 1 Johan den Dunnen
?/. - c.1295G>A r.(?) p.(Arg432Gln) Unknown - VUS g.10176536G>A g.10208496G>A - - CLCN4_000116 - PubMed: Palmer 2022 SCV000394131.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D9 PubMed: Palmer 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1320G>A r.(?) p.(Thr440=) Unknown - likely benign g.10176561G>A - CLCN4(NM_001830.3):c.1320G>A (p.T440=), CLCN4(NM_001830.4):c.1320G>A (p.T440=) - CLCN4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320G>A r.(?) p.(Thr440=) Unknown - likely benign g.10176561G>A - CLCN4(NM_001830.3):c.1320G>A (p.T440=), CLCN4(NM_001830.4):c.1320G>A (p.T440=) - CLCN4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1360G>A r.(?) p.(Val454Ile) Unknown - likely benign g.10176601G>A g.10208561G>A CLCN4(NM_001830.3):c.1360G>A (p.V454I) - CLCN4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1363G>A r.(?) p.(Val455Ile) Maternal (confirmed) - likely pathogenic g.10176604G>A - - - CLCN4_000076 - PubMed: He 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat1 PubMed: He 2021 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
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