All transcript variants in gene CLCN7

Information The variants shown are described using the NM_001287.5 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. - c.-134G>C benign r.(?) p.(=) g.1525109C>G - CLCN7(NM_001287.5):c.-134G>C (p.?) - CLCN7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.126T>C benign r.(?) p.(=) g.1524850A>G - CLCN7(NM_001287.5):c.126T>C (p.= (p.Pro42Pro)) - CLCN7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.286-7C>A likely benign r.(=) p.(=) g.1511478G>T - CLCN7(NM_001114331.2):c.214-7C>A (p.(=)) - CLCN7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.485-10T>C benign r.(=) p.(=) g.1510538A>G - CLCN7(NM_001287.5):c.485-10T>C (p.?) - CLCN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.643G>A pathogenic r.(?) p.(Gly215Arg) g.1509140C>T - CLCN7(NM_001287.5):c.643G>A (p.Gly215Arg) - CLCN7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.660C>T benign r.(?) p.(=) g.1509123G>A - CLCN7(NM_001287.5):c.660C>T (p.(His220=)) - CLCN7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.675+19T>G likely benign r.(=) p.(=) g.1509089A>C - CLCN7(NM_001287.5):c.675+19T>G (p.?) - CLCN7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.678G>A likely benign r.(?) p.(=) g.1507755C>T - CLCN7(NM_001287.5):c.678G>A (p.T226=) - CLCN7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.696C>T benign r.(?) p.(=) g.1507737G>A - CLCN7(NM_001287.5):c.696C>T (p.= (p.Ser232Ser)) - CLCN7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.714G>A likely benign r.(?) p.(=) g.1507719C>T - CLCN7(NM_001287.5):c.714G>A (p.V238=) - CLCN7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.739-20C>T likely benign r.(=) p.(=) g.1507358G>A - CLCN7(NM_001287.5):c.739-20C>T (p.?) - CLCN7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.746C>T VUS r.(?) p.(Pro249Leu) g.1507331G>A - CLCN7(NM_001287.5):c.746C>T (p.Pro249Leu) - CLCN7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.822+17T>C benign r.(=) p.(=) g.1507238A>G - CLCN7(NM_001287.5):c.822+17T>C (r.spl?) - CLCN7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.856C>T likely pathogenic r.(?) p.(Arg286Trp) g.1506174G>A - CLCN7(NM_001287.5):c.856C>T (p.R286W) - CLCN7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.899C>T VUS r.(?) p.(Ala300Val) g.1506131G>A - CLCN7(NM_001287.5):c.899C>T (p.(Ala300Val)) - CLCN7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.900G>A benign r.(?) p.(=) g.1506130C>T - CLCN7(NM_001287.5):c.900G>A (p.(Ala300=)) - CLCN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.917-18C>T likely benign r.(=) p.(=) g.1505814G>A - CLCN7(NM_001287.5):c.917-18C>T - CLCN7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1128G>A benign r.(?) p.(=) g.1504437C>T - CLCN7(NM_001287.5):c.1128G>A (p.=) - CLCN7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1170A>T benign r.(?) p.(=) g.1503879T>A - CLCN7(NM_001287.5):c.1170A>T (p.A390=) - CLCN7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1170A>T benign r.(?) p.(=) g.1503879T>A - CLCN7(NM_001287.5):c.1170A>T (p.A390=) - CLCN7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1245T>C benign r.(?) p.(=) g.1502864A>G - CLCN7(NM_001287.5):c.1245T>C (p.=) - CLCN7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1252G>A benign r.(?) p.(Val418Met) g.1502857C>T - CLCN7(NM_001287.5):c.1252G>A (p.V418M) - CLCN7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1252G>A benign r.(?) p.(Val418Met) g.1502857C>T - CLCN7(NM_001287.5):c.1252G>A (p.V418M) - CLCN7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1354-7C>T likely benign r.(=) p.(=) g.1501724G>A - CLCN7(NM_001287.5):c.1354-7C>T - CLCN7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1452C>G likely benign r.(?) p.(=) g.1500663G>C - CLCN7(NM_001287.5):c.1452C>G (p.= (p.Ser484Ser)) - CLCN7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1797+16G>A benign r.(=) p.(=) g.1498951C>T - CLCN7(NM_001287.5):c.1797+16G>A (p.?) - CCDC154_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1798-10C>T benign r.(=) p.(=) g.1498777G>A - CLCN7(NM_001287.5):c.1798-10C>T (p.?) - CCDC154_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1798-8G>A benign r.(=) p.(=) g.1498775C>T - CLCN7(NM_001287.5):c.1798-8G>A (p.?) - CCDC154_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1883+7C>T likely benign r.(=) p.(=) g.1498675G>A - CLCN7(NM_001287.5):c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1884-16C>T benign r.(=) p.(=) g.1498501G>A - CLCN7(NM_001287.5):c.1884-16C>T (p.?) - CLCN7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1961C>T benign r.(?) p.(Thr654Met) g.1498408G>A - CLCN7(NM_001114331.2):c.1889C>T (p.(Thr630Met), p.(Thr654Met)) - CCDC154_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1961C>T likely benign r.(?) p.(Thr654Met) g.1498408G>A - CLCN7(NM_001114331.2):c.1889C>T (p.(Thr630Met), p.(Thr654Met)) - CCDC154_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2073+16C>T benign r.(=) p.(=) g.1497640G>A - CLCN7(NM_001287.5):c.2073+16C>T (p.?) - CCDC154_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys) g.1497499T>C - - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys) g.1497499T>C - - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.2403G>T likely benign r.(?) p.(=) g.1496647C>A - CLCN7(NM_001287.5):c.2403G>T (p.S801=) - CCDC154_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*19A>G benign r.(=) p.(=) g.1496613T>C - CLCN7(NM_001287.5):c.*19A>G (r.spl?) - CCDC154_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*2970C>T likely benign r.(=) p.(=) g.1493662G>A - CCDC154(NM_001143980.1):c.259C>T (p.(Arg87Trp)) - CCDC154_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*3015C>T likely benign r.(=) p.(=) g.1493617G>A - CCDC154(NM_001143980.1):c.304C>T (p.(Arg102Trp)) - CCDC154_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*3094C>T likely benign r.(=) p.(=) g.1493538G>A - CCDC154(NM_001143980.1):c.383C>T (p.(Ala128Val)) - CCDC154_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*3670G>A VUS r.(=) p.(=) g.1492962C>T - CCDC154(NM_001143980.1):c.470G>A (p.(Arg157Gln)) - CCDC154_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*4194G>A likely benign r.(=) p.(=) g.1492438C>T - CCDC154(NM_001143980.1):c.644G>A (p.(Arg215Gln)) - CCDC154_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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