Full data view for gene CLDN14


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_001146077.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
Legend   How to query  

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.-220+15838G>A r.(=) p.(=) Both (homozygous) - VUS g.37932871C>T g.36560573C>T - - CLDN14_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+15838G>A r.(=) p.(=) Both (homozygous) - VUS g.37932871C>T g.36560573C>T - - CLDN14_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+16189del r.(=) p.(=) Both (homozygous) - VUS g.37932521del g.36560223del - - CLDN14_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+16189del r.(=) p.(=) Both (homozygous) - VUS g.37932521del g.36560223del - - CLDN14_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+16724C>A r.(=) p.(=) Both (homozygous) - VUS g.37931985G>T g.36559687G>T - - CLDN14_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+16724C>A r.(=) p.(=) Both (homozygous) - VUS g.37931985G>T g.36559687G>T - - CLDN14_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+16975T>A r.(=) p.(=) Both (homozygous) - VUS g.37931734A>T g.36559436A>T - - CLDN14_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+16975T>A r.(=) p.(=) Both (homozygous) - VUS g.37931734A>T g.36559436A>T - - CLDN14_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+27390C>T r.(=) p.(=) Both (homozygous) - VUS g.37921319G>A g.36549021G>A - - CLDN14_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+27390C>T r.(=) p.(=) Both (homozygous) - VUS g.37921319G>A g.36549021G>A - - CLDN14_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-220+27453C>T r.(=) p.(=) Both (homozygous) - VUS g.37921256G>A g.36548958G>A - - CLDN14_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-219-4191T>C r.(=) p.(=) Both (homozygous) - VUS g.37886989A>G g.36514691A>G - - CLDN14_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-219-4118_-219-4115del r.(=) p.(=) Both (homozygous) - VUS g.37886915_37886918del g.36514617_36514620del - - CLDN14_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-219-4118_-219-4115del r.(=) p.(=) Both (homozygous) - VUS g.37886915_37886918del g.36514617_36514620del - - CLDN14_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
./. - c.-219-4005G>A r.(=) p.(=) Both (homozygous) - VUS g.37886803C>T g.36514505C>T - - CLDN14_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-5G>A r.(?) p.? Unknown ACMG likely pathogenic (recessive) g.37833998G>A - - - CLDN14_000018 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.6delC r.(?) p.(Ala2fs) Unknown ACMG likely pathogenic (recessive) g.37833987delC - - - CLDN14_000017 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.83C>T r.(?) p.(Pro28Leu) Unknown - VUS g.37833911G>A - - - CLDN14_000020 - - - rs727504989 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242G>A r.(?) p.(Arg81His) Unknown - VUS g.37833752C>T - CLDN14(NM_144492.2):c.242G>A (p.R81H) - CLDN14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242G>A r.(?) p.(Arg81His) Unknown - VUS g.37833752C>T - - - CLDN14_000019 - - - rs368027306 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243C>T r.(?) p.(Arg81=) Unknown - benign g.37833751G>A g.36461453G>A - - CLDN14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4101 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4210 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF958 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1660 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Wilcox 2001, PubMed: Naz 2017 - rs74315437 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLRB5 PubMed: Wilcox 2001, PubMed: Naz 2017 family, 10 affected - - Pakistan Punjab - - - - 10 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Wilcox 2001, PubMed: Naz 2017 - rs74315437 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAM04 PubMed: Wilcox 2001, PubMed: Naz 2017 family, 4 affected - - Pakistan Punjab - - - - 4 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 - PubMed: Wilcox 2001, PubMed: Naz 2017 - rs74315437 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAM11 PubMed: Wilcox 2001, PubMed: Naz 2017 family, 9 affected - - Pakistan Punjab - - - - 9 Johan den Dunnen
+/. - c.254T>A r.(?) p.(Val85Asp) Both (homozygous) - pathogenic (recessive) g.37833740A>T g.36461442A>T - - CLDN14_000022 ACMG PM2, PM3, PP3 PubMed: Khan 2024, Journal: Khan 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES LIS HLMS34 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - 1 Hina Khan
+?/. - c.281C>T r.(?) p.(Ala94Val) Unknown - likely pathogenic g.37833713G>A - - - CLDN14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295G>A r.(?) p.(Val99Ile) Unknown - VUS g.37833699C>T - CLDN14(NM_144492.2):c.295G>A (p.V99I) - CLDN14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482G>A r.(?) p.(Gly161Asp) Unknown - VUS g.37833512C>T - - - CLDN14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522G>A r.(?) p.(Ser174=) Unknown - likely benign g.37833472C>T - CLDN14(NM_144492.2):c.522G>A (p.S174=) - CLDN14_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525C>T r.(?) p.(Leu175=) Unknown - likely benign g.37833469G>A g.36461171G>A CLDN14(NM_144492.2):c.525C>T (p.L175=) - CLDN14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.687G>A r.(?) p.(Thr229=) Unknown - benign g.37833307C>T g.36461009C>T - - CLDN14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690C>T r.(?) p.(His230=) Unknown - likely benign g.37833304G>A - CLDN14(NM_144492.2):c.690C>T (p.H230=) - CLDN14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.694G>A r.(?) p.(Gly232Arg) Unknown - pathogenic g.37833300C>T g.36461002C>T - - CLDN14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715G>A r.(?) p.(Val239Met) Unknown - VUS g.37833279C>T - - - CLDN14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.