All variants in the CLCN7 gene

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

54 entries on 1 page. Showing entries 1 - 54.
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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     
-/. - c.-134G>C r.(?) p.(=) - benign g.1525109C>G g.1475108C>G - - CLCN7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.116G>T r.(?) p.(Gly39Val) - VUS g.1524860C>A g.1474859C>A CLCN7(NM_001114331.2):c.116G>T (p.(Gly39Val)) - CLCN7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.126T>C r.(?) p.(Pro42=) - benign g.1524850A>G g.1474849A>G - - CLCN7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.351+12G>A r.(=) p.(=) - likely benign g.1511394C>T g.1461393C>T CLCN7(NM_001287.5):c.351+12G>A - CLCN7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.398T>A r.(?) p.(Ile133Asn) - VUS g.1510903A>T - CLCN7(NM_001287.5):c.398T>A (p.I133N) - CLCN7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.485-10T>C r.(=) p.(=) - benign g.1510538A>G g.1460537A>G - - CLCN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.612C>T r.(?) p.(Ser204=) - likely benign g.1509171G>A g.1459170G>A CLCN7(NM_001287.5):c.612C>T (p.S204=) - CLCN7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.643G>A r.(?) p.(Gly215Arg) - pathogenic g.1509140C>T g.1459139C>T - - CLCN7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.660C>T r.(?) p.(His220=) - benign g.1509123G>A g.1459122G>A - - CLCN7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.675+19T>G r.(=) p.(=) - likely benign g.1509089A>C g.1459088A>C - - CLCN7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.678G>A r.(?) p.(Thr226=) - likely benign g.1507755C>T g.1457754C>T CLCN7(NM_001287.5):c.678G>A (p.T226=) - CLCN7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.696C>T r.(?) p.(Ser232=) - benign g.1507737G>A g.1457736G>A - - CLCN7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.696C>T r.(=) p.(=) - VUS g.1507737G>A g.1457736G>A - - CLCN7_000010 12 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs117183989 Germline - 12/2795 individuals - 0 - Mohammed Faruq
-?/. - c.714G>A r.(?) p.(Val238=) - likely benign g.1507719C>T g.1457718C>T CLCN7(NM_001287.5):c.714G>A (p.V238=) - CLCN7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.739-20C>T r.(=) p.(=) - likely benign g.1507358G>A g.1457357G>A - - CLCN7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.746C>T r.(?) p.(Pro249Leu) - VUS g.1507331G>A g.1457330G>A - - CLCN7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.822+17T>C r.(=) p.(=) - benign g.1507238A>G g.1457237A>G - - CLCN7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.856C>T r.(?) p.(Arg286Trp) - likely pathogenic g.1506174G>A g.1456173G>A CLCN7(NM_001287.5):c.856C>T (p.R286W) - CLCN7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.899C>T r.(?) p.(Ala300Val) - VUS g.1506131G>A g.1456130G>A - - CLCN7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.900G>A r.(?) p.(Ala300=) - benign g.1506130C>T g.1456129C>T CLCN7(NM_001114331.2):c.828G>A (p.(=)) - CLCN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.900G>A r.(?) p.(Ala300=) - likely benign g.1506130C>T g.1456129C>T CLCN7(NM_001114331.2):c.828G>A (p.(=)) - CLCN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.917-18C>T r.(=) p.(=) - likely benign g.1505814G>A g.1455813G>A CLCN7(NM_001287.5):c.917-18C>T - CLCN7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1004C>T r.(?) p.(Thr335Met) - VUS g.1505229G>A g.1455228G>A CLCN7(NM_001287.5):c.1004C>T (p.T335M) - CLCN7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1128G>A r.(?) p.(Pro376=) - benign g.1504437C>T g.1454436C>T - - CLCN7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1170A>T r.(?) p.(Ala390=) - benign g.1503879T>A g.1453878T>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 r.(?) p.(Ala390=) - benign g.1503879T>A g.1453878T>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 r.(?) p.(Ile415=) - benign g.1502864A>G g.1452863A>G - - CLCN7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1252G>A r.(?) p.(Val418Met) - benign g.1502857C>T g.1452856C>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 r.(?) p.(Val418Met) - benign g.1502857C>T g.1452856C>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 r.(=) p.(=) - likely benign g.1501724G>A g.1451723G>A CLCN7(NM_001287.5):c.1354-7C>T - CLCN7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1452C>G r.(?) p.(Ser484=) - likely benign g.1500663G>C g.1450662G>C - - CLCN7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1755G>A r.(?) p.(Leu585=) - likely benign g.1499009C>T - CLCN7(NM_001287.5):c.1755G>A (p.L585=) - CCDC154_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1797+16G>A r.(=) p.(=) - benign g.1498951C>T g.1448950C>T - - CCDC154_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1798-10C>T r.(=) p.(=) - benign g.1498777G>A g.1448776G>A - - CCDC154_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1798-8G>A r.(=) p.(=) - benign g.1498775C>T g.1448774C>T - - CCDC154_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1883+7C>T r.(=) p.(=) - likely benign g.1498675G>A g.1448674G>A CLCN7(NM_001287.5):c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1883+7C>T r.(=) p.(=) - likely benign g.1498675G>A g.1448674G>A CLCN7(NM_001287.5):c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1884-16C>T r.(=) p.(=) - benign g.1498501G>A g.1448500G>A - - CLCN7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1961C>T r.(?) p.(Thr654Met) - benign g.1498408G>A g.1448407G>A CLCN7(NM_001287.5):c.1961C>T (p.T654M) - CCDC154_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2021G>A r.(?) p.(Arg674Gln) - VUS g.1497708C>T g.1447707C>T - - CCDC154_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2073+16C>T r.(=) p.(=) - benign g.1497640G>A g.1447639G>A - - CCDC154_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2144A>G r.(?) p.(Tyr715Cys) - pathogenic (dominant) g.1497499T>C g.1447498T>C - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2144A>G r.(?) p.(Tyr715Cys) - pathogenic (dominant) g.1497499T>C g.1447498T>C - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.2187C>G r.(?) p.(Asp729Glu) - likely benign g.1497456G>C g.1447455G>C CLCN7(NM_001287.5):c.2187C>G (p.D729E) - CCDC154_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2274C>G r.(?) p.(Phe758Leu) - likely pathogenic g.1497064G>C g.1447063G>C - - CCDC154_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2330A>G r.(?) p.(Gln777Arg) - likely benign g.1497008T>C g.1447007T>C CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.5):c.2330A>G (p.Q777R) - CCDC154_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2330A>G r.(?) p.(Gln777Arg) - likely benign g.1497008T>C g.1447007T>C CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.5):c.2330A>G (p.Q777R) - CCDC154_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2372G>A r.(?) p.(Arg791His) - likely benign g.1496678C>T - CLCN7(NM_001287.5):c.2372G>A (p.R791H) - CCDC154_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2403G>T r.(?) p.(Ser801=) - likely benign g.1496647C>A g.1446646C>A CLCN7(NM_001287.5):c.2403G>T (p.S801=) - CCDC154_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*19A>G r.(=) p.(=) - benign g.1496613T>C g.1446612T>C - - CCDC154_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*3085C>T r.(=) p.(=) - likely benign g.1493547G>A g.1443546G>A CCDC154(NM_001143980.1):c.374C>T (p.(Ala125Val)) - CCDC154_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*3094C>T r.(=) p.(=) - likely benign g.1493538G>A g.1443537G>A CCDC154(NM_001143980.1):c.383C>T (p.(Ala128Val)) - CCDC154_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3670G>A r.(=) p.(=) - VUS g.1492962C>T g.1442961C>T CCDC154(NM_001143980.1):c.470G>A (p.(Arg157Gln)) - CCDC154_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4194G>A r.(=) p.(=) - likely benign g.1492438C>T g.1442437C>T CCDC154(NM_001143980.1):c.644G>A (p.(Arg215Gln)) - CCDC154_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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