All variants in the CLIC5 gene

Information The variants shown are described using the NM_016929.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.-64841C>A r.(?) p.(=) - benign g.46048120G>T g.46080383G>T - - CLIC5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-64721A>G r.(?) p.(=) - benign g.46048000T>C g.46080263T>C - - CLIC5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-64464A>T r.(?) p.(=) - likely benign g.46047743T>A g.46080006T>A CLIC5(NM_001114086.1):c.237A>T (p.R79S) - CLIC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-64361A>G r.(?) p.(=) - benign g.46047640T>C g.46079903T>C - - CLIC5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-64272T>A r.(?) p.(=) - likely benign g.46047551A>T - CLIC5(NM_001114086.1):c.429T>A (p.I143=) - CLIC5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-56760T>A - - - VUS g.46040039A>T g.46072302A>T - - CLIC5_000001 - - - - Germline - - - - - Yu Sun
-/. - c.-131T>A r.(?) p.(=) - benign g.45983410A>T g.46015673A>T - - CLIC5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1i c.63+1G>A r.spl p.? ACMG pathogenic (recessive) g.45983216C>T - - - CLIC5_000021 ACMG PSV1, PP1-S, PM2, PP3 PubMed: Wonkam-Tingang 2020 ID 992577 - Germline yes - - - - Yacouba Dia
+?/. - c.96T>A r.(?) p.(Cys32*) - VUS g.45922949A>T g.45955212A>T - - CLIC5_000002 - PubMed: Seco 2015 - - Germline yes - - - - Helger Yntema
+/. - c.96T>A r.(?) p.(Cys32*) - pathogenic (recessive) g.45922949A>T g.45955212A>T - - CLIC5_000002 - - - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. - c.123C>A r.(?) p.(Ile41=) - likely benign g.45922922G>T g.45955185G>T CLIC5(NM_001114086.1):c.600C>A (p.I200=) - CLIC5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.224T>C r.(224u>c) p.(Leu75Pro) ACMG pathogenic (recessive) g.45917068A>G - - - CLIC5_000020 ACNG PM2, PP3, PM3, PP1, PP1-S PubMed: Wonkam-Tingang 2020 - - Germline yes - - - - Yacouba Dia
-?/. - c.293C>A r.(?) p.(Pro98His) - likely benign g.45916999G>T g.45949262G>T - - CLIC5_000016 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35822882 Germline - 23/2794 individuals - - - Mohammed Faruq
?/. - c.326G>A r.(?) p.(Arg109Gln) - VUS g.45909364C>T g.45941627C>T - - CLIC5_000015 conflicting interpretations of pathogenicity; 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117204561 Germline - 16/2795 individuals - - - Mohammed Faruq
?/. - c.341C>A r.(?) p.(Ala114Glu) - VUS g.45909349G>T g.45941612G>T CLIC5(NM_001114086.1):c.818C>A (p.A273E) - CLIC5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.477G>T r.(?) p.(Glu159Asp) - VUS g.45882076C>A g.45914339C>A CLIC5(NM_001114086.1):c.954G>T (p.E318D) - CLIC5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.514C>T r.(?) p.(Arg172Trp) - VUS g.45882039G>A g.45914302G>A CLIC5(NM_001114086.1):c.991C>T (p.R331W), CLIC5(NM_001114086.2):c.991C>T (p.R331W) - CLIC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.514C>T r.(?) p.(Arg172Trp) - VUS g.45882039G>A - CLIC5(NM_001114086.1):c.991C>T (p.R331W), CLIC5(NM_001114086.2):c.991C>T (p.R331W) - CLIC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.522G>A r.(?) p.(Lys174=) - benign g.45882031C>T g.45914294C>T - - CLIC5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.647G>A r.(?) p.(Arg216Gln) - VUS g.45870934C>T - CLIC5(NM_001114086.1):c.1124G>A (p.R375Q) - CLIC5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.661G>A r.(?) p.(Ala221Thr) - VUS g.45870920C>T g.45903183C>T CLIC5(NM_001114086.1):c.1138G>A (p.A380T) - CLIC5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.711C>T r.(?) p.(Ile237=) - likely benign g.45870870G>A - CLIC5(NM_001114086.1):c.1188C>T (p.I396=) - CLIC5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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