Full data view for gene CLCN4

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

56 entries on 1 page. Showing entries 1 - 56.
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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     
+/. 3 c.(40_50)? r.(?) p.(Asp15Serfs*18) Maternal (confirmed) - pathogenic (recessive) g.(10153112_10153122)? - Asp15Serfs*18 - CLCN4_000035 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX49/L19 PubMed: Hu 2016 family, 4 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 4 Johan den Dunnen
+/. 12 c.2191G>M r.(?) p.(Gly731Arg) Maternal (inferred) - pathogenic (recessive) g.10188916G>M - Gly731Arg - CLCN4_000034 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX15/T8 PubMed: Hu 2016 family, 1 affected M - - - - 0 - - 1 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.232G>A r.(?) p.(Gly78Ser) Maternal (inferred) - pathogenic (recessive) g.10155642G>A g.10187602G>A Gly78Ser - CLCN4_000033 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN70 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 1 Johan den Dunnen
?/. - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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.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 - - 0 - - 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 - - 0 - - 1 Yu Sun
?/. - 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 - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.651C>T r.(?) p.(Ser217=) Unknown - likely benign g.10174493C>T g.10206453C>T CLCN4(NM_001830.4):c.651C>T (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 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU27 PubMed: Hu 2016 family, 2 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 2 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.688G>A r.(?) p.(Val230Met) Unknown - likely benign 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.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.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.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 - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - 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.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.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.1320G>A r.(?) p.(Thr440=) Unknown - likely benign g.10176561G>A - CLCN4(NM_001830.3):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.1389G>A r.(?) p.(Lys463=) Unknown - likely pathogenic g.10176630G>A g.10208590G>A CLCN4(NM_001830.3):c.1389G>A (p.K463=) - CLCN4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1389+4A>C r.spl? p.? Unknown - likely benign g.10176634A>C - CLCN4(NM_001830.3):c.1389+4A>C - CLCN4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1401C>T r.(?) p.(Gly467=) Unknown - likely benign g.10180518C>T - CLCN4(NM_001830.3):c.1401C>T (p.G467=) - CLCN4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1431G>A r.(?) p.(Ala477=) Unknown - likely benign g.10180548G>A - CLCN4(NM_001830.3):c.1431G>A (p.A477=) - CLCN4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1437G>A r.(=) p.(=) Parent #1 - likely benign g.10180554G>A g.10212514G>A A479A - CLCN4_000028 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
+?/. - c.1450G>A r.(?) p.(Gly484Arg) Unknown - likely pathogenic g.10180567G>A g.10212527G>A - - CLCN4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1479T>C r.(?) p.(His493=) Unknown - likely benign g.10180596T>C - CLCN4(NM_001830.4):c.1479T>C (p.H493=) - CLCN4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548C>T r.(?) p.(Tyr516=) Unknown - likely benign g.10180665C>T g.10212625C>T CLCN4(NM_001830.3):c.1548C>T (p.Y516=) - CLCN4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1566G>A r.(?) p.(Ala522=) Unknown - likely benign g.10180683G>A - CLCN4(NM_001830.3):c.1566G>A (p.A522=) - CLCN4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1575C>T r.(?) p.(Leu525=) Unknown - likely benign g.10180692C>T g.10212652C>T CLCN4(NM_001830.4):c.1575C>T (p.L525=) - CLCN4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1576+185_1576+186dup r.(=) p.(=) Unknown - VUS g.10180878_10180879dup g.10212838_10212839dup - - CLCN4_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 11 c.1606G>A r.(?) p.(Val536Met) Maternal (confirmed) - pathogenic (recessive) g.10181750G>A g.10213710G>A Val536Met - CLCN4_000031 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU9 PubMed: Hu 2016 family, 3 affected, 7 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
-?/. - c.1632G>A r.(=) p.(=) Parent #1 - likely benign g.10181776G>A g.10213736G>A G544G - CLCN4_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1646T>A r.(?) p.(Ile549Asn) Unknown - VUS g.10181790T>A g.10213750T>A - - CLCN4_000025 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
-?/. - c.1758G>A r.(=) p.(=) Parent #1 - likely benign g.10181902G>A g.10213862G>A V586V - CLCN4_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1758G>A r.(?) p.(Val586=) Unknown - likely benign g.10181902G>A - CLCN4(NM_001830.3):c.1758G>A (p.V586=) - CLCN4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1829C>T r.(?) p.(Ser610Leu) Unknown - likely benign g.10181973C>T - CLCN4(NM_001830.3):c.1829C>T (p.S610L) - CLCN4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1843G>C r.(?) p.(Asp615His) Unknown - VUS g.10181987G>C g.10213947G>C CLCN4(NM_001830.3):c.1843G>C (p.D615H) - CLCN4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1887C>T r.(?) p.(Thr629=) Unknown - likely benign g.10182031C>T g.10213991C>T CLCN4(NM_001830.4):c.1887C>T (p.T629=) - CLCN4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1975+441A>G r.(=) p.(=) Maternal (inferred) - VUS g.10182560A>G g.10214520A>G - - CLCN4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. - c.1976-1G>A r.spl? p.? Unknown - likely pathogenic g.10188700G>A - - - CLCN4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2025C>A r.(?) p.(Tyr675Ter) Unknown - likely pathogenic g.10188750C>A g.10220710C>A CLCN4(NM_001830.3):c.2025C>A (p.(Tyr675Ter)) - CLCN4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2030C>T r.(?) p.(Thr677Met) Unknown - likely benign g.10188755C>T g.10220715C>T CLCN4(NM_001830.4):c.2030C>T (p.T677M) - CLCN4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*156A>G r.(=) p.(=) Maternal (inferred) - VUS g.10201780A>G g.10233740A>G - - CLCN4_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*156A>G r.(=) p.(=) Maternal (inferred) - VUS g.10201780A>G g.10233740A>G - - CLCN4_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*719C>T r.(=) p.(=) Maternal (inferred) - VUS g.10202343C>T g.10234303C>T - - CLCN4_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*719C>T r.(=) p.(=) Maternal (inferred) - VUS g.10202343C>T g.10234303C>T - - CLCN4_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1771A>C r.(=) p.(=) Maternal (inferred) - VUS g.10203395A>C g.10235355A>C - - CLCN4_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1771A>C r.(=) p.(=) Maternal (inferred) - VUS g.10203395A>C g.10235355A>C - - CLCN4_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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