Full data view for gene CA4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000717.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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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     
-/. - c.-24G>C r.(?) p.(=) Unknown - benign g.58227372G>C g.60150011G>C - - CA4_000036 - PubMed: Alvarez 2007 - - Germline - 9/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 1 c.-24G>C r.(?) p.(=) Unknown - benign g.58227372G>C g.60150011G>C - - CA4_000036 - PubMed: Tian 2010 - - Germline - 7/116 cases, 1/263 controls - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 7 Johan den Dunnen
-/. - c.-6C>G r.(?) p.(=) Unknown - benign g.58227390C>G g.60150029C>G CA4(NM_000717.5):c.-6C>G - CA4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.34G>A r.(?) p.(Ala12Thr) Unknown - pathogenic (dominant) g.58227429G>A g.60150068G>A 80G>A (A12T) - CA4_000047 - PubMed: Tian 2010 - - De novo - 1/116 cases - - - DNA SEQ - - retinal disease patient PubMed: Tian 2010 - F - China - - - - - 1 Johan den Dunnen
?/. - c.40C>T r.(?) p.(Arg14Trp) Unknown - VUS g.58227435C>T g.60150074C>T - - CA4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.40C>T r.(?) p.(Arg14Trp) Parent #1 - pathogenic (dominant) g.58227435C>T g.60150074C>T - - CA4_000013 - PubMed: Rebello 2004 - - Germline yes - - - - DNA SEQ - - retinal disease Fam1/Fam2 PubMed: Rebello 2004 24 affected individuals from 2 unrelated families F;M - South Africa - - - - - 24 Johan den Dunnen
+/. - c.40C>T r.(?) p.(Arg14Trp) Parent #1 - pathogenic (dominant) g.58227435C>T g.60150074C>T - - CA4_000013 - PubMed: Yang 2005 - - Germline yes - - - - DNA SEQ - - retinal disease FamA PubMed: Yang 2005 6-generation family, 17 affected (10F, 7M) F;M - - white, Northern Europe - - - - 17 Johan den Dunnen
+?/. - c.40C>T - p.Arg14Trp Unknown - NA g.58227435C>T - - - CA4_000013 expression cloning COS-7 cells shows protein retained in endoplasmatic reticulum, partially reduced protein processing and S and G2/M cell-cycle block; effects not seen in HEK293 cells PubMed: Pandor 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58+18G>C r.(=) p.(=) Unknown - likely benign g.58227471G>C g.60150110G>C CA4(NM_000717.5):c.58+18G>C - CA4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58+72G>T r.(?) p.(=) Unknown - benign g.58227525G>T g.60150164G>T IVS1+72G>T - CA4_000037 - PubMed: Alvarez 2007 - - Germline - 14/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 1i c.58+72G>T r.(=) p.(=) Unknown - benign g.58227525G>T g.60150164G>T - - CA4_000037 - PubMed: Tian 2010 - - Germline - 8/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 8 Johan den Dunnen
-/. 1i c.58+82C>T r.(?) p.(=) Unknown - benign g.58227535C>T g.60150174C>T IVS1+82C>T - CA4_000039 - PubMed: Alvarez 2007 - - Germline - 1/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. - c.58+145C>G r.(?) p.(=) Unknown - benign g.58227598C>G g.60150237C>G IVS1+145C>G - CA4_000038 - PubMed: Alvarez 2007 - - Germline - 9/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 1i c.58+145C>G r.(?) p.(=) Unknown - benign g.58227598C>G g.60150237C>G - - CA4_000038 - PubMed: Tian 2010 - - Germline - 6/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 6 Johan den Dunnen
+?/. - c.74A>G r.(?) p.(Tyr25Cys) Parent #1 - likely pathogenic (dominant) g.58232690A>G g.60155329A>G - - CA4_000051 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690937 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 2 c.74A>G r.(?) p.(Tyr25Cys) Unknown - likely pathogenic g.58232690A>G - c.74A>G - CA4_000051 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.81T>A r.(?) p.(Val27=) Unknown - VUS g.58232697T>A - CA4(NM_000717.5):c.81T>A (p.V27=) - CA4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112G>A r.(?) p.(Val38Met) Unknown - VUS g.58232728G>A - CA4(NM_000717.5):c.112G>A (p.V38M) - CA4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.113-69G>C r.(?) p.(=) Unknown - benign g.58233852G>C g.60156491G>C - - CA4_000048 - PubMed: Tian 2010 - - Germline - 1/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 1 Johan den Dunnen
?/. - c.162C>G r.(?) p.(Ile54Met) Unknown ACMG VUS g.58233970C>G g.60156609C>G CA4 c.162C>G, p.(Ile54Met) - CA4_000064 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 32_38 PubMed: Zhu 2022 family 32, individual 38 M - - - - - - - 1 LOVD
-/. - c.168C>T r.(?) p.(Ile56=) Unknown - benign g.58233976C>T g.60156615C>T CA4(NM_000717.5):c.168C>T (p.I56=) - CA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.198_199delinsG r.(?) p.(Leu67Trpfs*24) Parent #1 - likely pathogenic g.58234006_58234007delinsG - 198_199delACinsG - CA4_000058 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ - - CORD 31 PubMed: Wang 2014b - F - United States - - - - - 1 Isabelle Audo
-/. - c.204A>G r.(?) p.(Gly68=) Unknown - benign g.58234012A>G g.60156651A>G CA4(NM_000717.4):c.204A>G (p.G68=) - CA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206G>A r.(?) p.(Arg69His) Unknown - VUS g.58234014G>A g.60156653G>A - - CA4_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121434552 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.206G>A r.(?) p.(Arg69His) Unknown - likely pathogenic (dominant) g.58234014G>A g.60156653G>A - - CA4_000014 not in 432 control chromosomes PubMed: Alvarez 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease patient PubMed: Alvarez 2007 - M - China - - - - - 1 Johan den Dunnen
+/. - c.206G>A - p.Arg69His Unknown - NA g.58234014G>A - - - CA4_000014 expression cloning shows minimal effect on enzyme activity, defective protein processing, impaired trafficking to cell surface resulting in abnormal intracellular retention PubMed: Datta 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.206G>A r.(?) p.(Arg69His) Unknown - pathogenic (dominant) g.58234014G>A g.60156653G>A - - CA4_000014 - PubMed: Tian 2010 - - Germline - 1/116 cases - - - DNA SEQ - - retinal disease patient PubMed: Tian 2010 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.207C>T r.(?) p.(Arg69=) Unknown - likely benign g.58234015C>T g.60156654C>T CA4(NM_000717.5):c.207C>T (p.R69=) - CA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209T>G r.(?) p.(Phe70Cys) Unknown - VUS g.58234017T>G g.60156656T>G CA4(NM_000717.4):c.209T>G (p.F70C) - CA4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.243G>A r.(?) p.(Trp81*) Unknown - likely pathogenic (dominant) g.58234051G>A - c.243G>A - CA4_000062 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.243G>A r.(?) p.(Trp81*) Maternal (inferred) - likely pathogenic (dominant) g.58234051G>A - - - CA4_000062 not in 100 controls PubMed: Li 2022, Journal: Li 2022 - - Germline/De novo (untested) - 1/8 patients - - - DNA SEQ-NG blood specific hereditary eye disease enrichment panel followed by Sanger sequencing RP P01 PubMed: Li 2022, Journal: Li 2022 - M ? China - - - - - 2 Alaaeldin Fayez
?/. - c.254A>C r.(?) p.(Asn85Thr) Unknown - VUS g.58234062A>C g.60156701A>C CA4(NM_000717.5):c.254A>C (p.N85T) - CA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258C>T r.(?) p.(Asn86=) Unknown - benign g.58234066C>T g.60156705C>T CA4(NM_000717.4):c.258C>T (p.N86=), CA4(NM_000717.5):c.258C>T (p.N86=) - CA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>T r.(?) p.(Asn86=) Unknown - likely benign g.58234066C>T - CA4(NM_000717.4):c.258C>T (p.N86=), CA4(NM_000717.5):c.258C>T (p.N86=) - CA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259G>A r.(?) p.(Gly87Arg) Unknown - likely benign g.58234067G>A g.60156706G>A CA4(NM_000717.5):c.259G>A (p.G87R) - CA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.268+78A>T r.(?) p.(=) Unknown - benign g.58234154A>T g.60156793A>T - - CA4_000040 - PubMed: Alvarez 2007 - - Germline - 6/96 cases, 21/216 controls - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 3i c.268+78A>T r.(?) p.(=) Unknown - benign g.58234154A>T g.60156793A>T - - CA4_000040 - PubMed: Tian 2010 - - Germline - 4/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 4 Johan den Dunnen
-?/. - c.375C>T r.(?) p.(Gly125=) Unknown - likely benign g.58234894C>T g.60157533C>T CA4(NM_000717.4):c.375C>T (p.G125=) - CA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.415-39C>G r.(?) p.(=) Unknown - benign g.58235012C>G g.60157651C>G - - CA4_000041 - PubMed: Alvarez 2007 - - Germline - 2/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
?/. - c.415A>T r.(?) p.(Met139Leu) Unknown - VUS g.58235051A>T g.60157690A>T - - CA4_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185658468 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. - c.415A>T r.(?) p.(Met139Leu) Unknown - VUS g.58235051A>T g.60157690A>T - - CA4_000015 - PubMed: Xu 2014 - rs185658468 Germline - 2/314 case chromosomes - - - DNA SEQ - - retinal disease RP207 PubMed: Xu 2014 - - - China - - - - - 2 Isabelle Audo
?/. - c.415A>T r.(?) p.(Met139Leu) Unknown - VUS g.58235051A>T g.60157690A>T - - CA4_000015 - PubMed: Xu 2014 - rs185658468 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP224 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-/. - c.435A>G r.(?) p.(Lys145=) Unknown - benign g.58235071A>G g.60157710A>G - - CA4_000042 - PubMed: Alvarez 2007 - - Germline - 1/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. - c.492G>A r.(?) p.(Ala164=) Unknown - benign g.58235128G>A g.60157767G>A CA4(NM_000717.4):c.492G>A (p.A164=), CA4(NM_000717.5):c.492G>A (p.A164=) - CA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492G>A r.(?) p.(Ala164=) Unknown - likely benign g.58235128G>A - CA4(NM_000717.4):c.492G>A (p.A164=), CA4(NM_000717.5):c.492G>A (p.A164=) - CA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.513G>A r.(?) p.(Glu171=) Unknown - VUS g.58235149G>A g.60157788G>A - - CA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.514-79C>T r.(?) p.(=) Unknown - benign g.58235343C>T g.60157982C>T - - CA4_000043 - PubMed: Alvarez 2007 - - Germline - 7/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 6 c.519A>C r.(?) p.(Gly173=) Unknown - benign g.58235427A>C g.60158066A>C - - CA4_000050 - PubMed: Tian 2010 - - Germline - 1/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 1 Johan den Dunnen
-/. - c.531C>A r.(?) p.(Asn177Lys) Unknown - benign g.58235439C>A g.60158078C>A - - CA4_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185942554 Germline - 8/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
-/. - c.531C>A r.(?) p.(Asn177Lys) Unknown - benign g.58235439C>A g.60158078C>A - - CA4_000016 - PubMed: Alvarez 2007 - - Germline - 4/96 cases, 2/44 controls - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 6 c.531C>A r.(?) p.(Asn177Lys) Unknown - benign g.58235439C>A g.60158078C>A - - CA4_000016 - PubMed: Tian 2010 - - Germline - 6/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 6 Johan den Dunnen
?/. - c.531C>A r.(?) p.(Asn177Lys) Unknown - VUS g.58235439C>A g.60158078C>A - - CA4_000016 - PubMed: Xu 2014 - rs185942554 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP284 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.531C>A r.(?) p.(Asn177Lys) Unknown - likely pathogenic (recessive) g.58235439C>A g.60158078C>A - - CA4_000016 - PubMed: Xu 2014 - rs185942554 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP391 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.531C>A r.(?) p.(Asn177Lys) Unknown - VUS g.58235439C>A g.60158078C>A - - CA4_000016 - PubMed: Xu 2014 - rs185942554 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP302 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.532G>A r.(?) p.(Glu178Lys) Unknown - VUS g.58235440G>A g.60158079G>A CA4(NM_000717.5):c.532G>A (p.E178K) - CA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.580+19G>A r.(=) p.(=) Unknown - benign g.58235507G>A g.60158146G>A CA4(NM_000717.5):c.580+19G>A - CA4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7 c.593C>T r.(?) p.(Thr198Met) Parent #1 - benign g.58235656C>T - 593C>T - CA4_000054 .96/.04 in African control subjects PubMed: Sullivan 2006 - - Germline no - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
-/. - c.610C>T r.(=) p.(Leu204=) Unknown - benign g.58235673C>T g.60158312C>T - - CA4_000044 - PubMed: Alvarez 2007 - - Germline - 1/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
+/. - c.655C>A r.(?) p.(Arg219Ser) Parent #1 - pathogenic (dominant) g.58235718C>A g.60158357C>A - - CA4_000034 - PubMed: Yang 2005 - - Germline yes - - - - DNA SEQ - - retinal disease FamB PubMed: Yang 2005 4-generation family, 4 affected (2F, 2M) F;M - - white, Northern Europe - - - - 4 Johan den Dunnen
+/. - c.655C>A - p.Arg219Ser Unknown - NA g.58235718C>A - - - CA4_000034 expression cloning shows drastically reduced enzyme activity, defective protein processing, impaired trafficking to cell surface resulting in abnormal intracellular retention PubMed: Datta 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661C>T r.(?) p.(Leu221=) Unknown - benign g.58235724C>T g.60158363C>T CA4(NM_000717.5):c.661C>T (p.L221=) - CA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686G>A r.(?) p.(Cys229Tyr) Unknown ACMG VUS g.58235749G>A g.60158388G>A CA4 c.686G>A, p.(Cys229Tyr) - CA4_000060 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 362 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-/. 7 c.700G>A r.(?) p.(Val234Ile) Parent #1 - benign g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 7 c.700G>A r.(?) p.(Val234Ile) Parent #1 - benign g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 7 c.700G>A r.(?) p.(Val234Ile) Parent #1 - benign g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 7 c.700G>A r.(?) p.(Val234Ile) Parent #1 - benign g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-?/. - c.700G>A r.(?) p.(Val234Ile) Parent #1 - likely benign g.58235763G>A g.60158402G>A - - CA4_000001 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117704637 Germline - 13/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
-/. 7 c.700G>A r.(?) p.(Val234Ile) Parent #1 - benign g.58235763G>A - 700G>A - CA4_000001 In one control PubMed: Sullivan 2006 - - Germline no - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+?/. - c.700G>A r.(?) p.(Val234Ile) Parent #1 - likely pathogenic g.58235763G>A - - - CA4_000001 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Wang 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
-/. 7 c.700G>A r.(?) p.(Val234Ile) Unknown - benign g.58235763G>A - c.700G>A - CA4_000001 - PubMed: Simpson-2011 - - Germline - 4.60% in 360 controls - - - DNA arraySEQ, PCR, SEQ blood - retinal disease - PubMed: Simpson-2011 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.700G>T r.(?) p.(Val234Phe) Unknown - VUS g.58235763G>T - CA4(NM_000717.5):c.700G>T (p.V234F) - CA4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7 c.709G>T r.(?) p.(Val237Leu) Parent #1 - benign g.58235772G>T - 709G>T - CA4_000055 .98/.02 in African control subjects PubMed: Sullivan 2006 - - Germline no - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
-/. 7 c.716G>A r.(?) p.(Arg239Gln) Parent #1 - benign g.58235779G>A - 716G>A - CA4_000056 .95/.05 in African control subjects PubMed: Sullivan 2006 - - Germline no - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
?/. 7 c.725T>C r.(?) p.(Ile242Thr) Unknown - VUS g.58235788T>C - c.725T>C - CA4_000059 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
-/. - c.744+3G>A r.spl? p.? Unknown - benign g.58235810G>A g.60158449G>A CA4(NM_000717.5):c.744+3G>A - CA4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7i c.744+18C>T r.(?) p.(=) Unknown - benign g.58235825C>T g.60158464C>T - IVS7+18C>T CA4_000045 - PubMed: Alvarez 2007 - - Germline - 1/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
-/. 7i c.745-28G>T r.(?) p.(=) Unknown - benign g.58236563G>T g.60159202G>T IVS7-28G>T - CA4_000046 - PubMed: Alvarez 2007 - - Germline - 1/96 cases - - - DNA SEQ - - retinal disease - PubMed: Alvarez 2007 - - - China - - - - - 1 Johan den Dunnen
?/. - c.745-5C>T r.spl? p.? Unknown - VUS g.58236586C>T g.60159225C>T - - CA4_000017 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs549334435 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.753A>T r.(?) p.(Ala251=) Unknown - likely benign g.58236599A>T g.60159238A>T CA4(NM_000717.4):c.753A>T (p.A251=) - CA4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.761A>C r.(?) p.(Gln254Pro) Parent #1 - likely pathogenic (dominant) g.58236607A>C g.60159246A>C - - CA4_000053 - PubMed: Bryant 2018 - rs150432787 Germline - - - - - DNA SEQ-NG - WES retinal disease JB42 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.787A>G r.(?) p.(Thr263Ala) Unknown - VUS g.58236633A>G g.60159272A>G - - CA4_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
?/. - c.788C>G r.(?) p.(Thr263Arg) Unknown - VUS g.58236634C>G g.60159273C>G - - CA4_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.800A>G r.(?) p.(Lys267Arg) Unknown - VUS g.58236646A>G g.60159285A>G - - CA4_000020 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs187221698 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. 8 c.800A>G r.(?) p.(Lys267Arg) Unknown - VUS g.58236646A>G - c.800A>G - CA4_000020 - PubMed: Chen-2013 - rs187221698 Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
?/. - c.802G>A r.(?) p.(Asp268Asn) Unknown - VUS g.58236648G>A g.60159287G>A - - CA4_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.806A>T r.(?) p.(Asn269Ile) Unknown - VUS g.58236652A>T g.60159291A>T CA4(NM_000717.5):c.806A>T (p.N269I) - CA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.807T>C r.(?) p.(Asn269=) Unknown - benign g.58236653T>C g.60159292T>C CA4(NM_000717.4):c.807T>C (p.N269=), CA4(NM_000717.5):c.807T>C (p.N269=) - CA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807T>C r.(?) p.(Asn269=) Unknown - likely benign g.58236653T>C g.60159292T>C CA4(NM_000717.4):c.807T>C (p.N269=), CA4(NM_000717.5):c.807T>C (p.N269=) - CA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.835C>T r.(?) p.(Arg279Cys) Unknown ACMG VUS g.58236681C>T g.60159320C>T CA4:NM_000717 c.C835T, p.R279C - CA4_000061 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-283 PubMed: Rodriguez-Munoz 2020 family fRPN-126, proband M - Spain - - - - - 1 LOVD
-?/. - c.853G>A r.(?) p.(Gly285Arg) Unknown - likely benign g.58236699G>A - CA4(NM_000717.4):c.853G>A (p.G285R) - CA4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.869C>T r.(?) p.(Pro290Leu) Parent #1 - benign g.58236715C>T g.60159354C>T - - CA4_000002 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-?/. - c.869C>T r.(?) p.(Pro290Leu) Unknown - likely benign g.58236715C>T g.60159354C>T CA4(NM_000717.4):c.869C>T (p.P290L), CA4(NM_000717.5):c.869C>T (p.P290L) - CA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.869C>T r.(?) p.(Pro290Leu) Unknown - VUS g.58236715C>T - CA4(NM_000717.4):c.869C>T (p.P290L), CA4(NM_000717.5):c.869C>T (p.P290L) - CA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.923C>A r.(?) p.(Ala308Asp) Unknown - VUS g.58236769C>A g.60159408C>A - - CA4_000057 - PubMed: Xu 2014 - rs201580764 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP042 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.937T>C r.(?) p.(*313Argext*?) Unknown - pathogenic g.58236783T>C g.60159422T>C - - CA4_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.*17G>A r.(=) p.(=) Unknown - benign g.58236802G>A g.60159441G>A CA4(NM_000717.5):c.*17G>A - CA4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*59G>A r.(?) p.(?) Parent #1 - VUS g.58236844G>A g.60159483G>A - - CA4_000035 variant may affect CA4-expression levels - - - Germline yes - - - - DNA SEQ - - retinal disease FamC PubMed: Yang 2005 3-generation family, 3 affected (2F, M) F;M - - white, Northern Europe - - - - 3 Johan den Dunnen
?/. - c.*59G>A r.(?) p.(?) Parent #1 - VUS g.58236844G>A g.60159483G>A - - CA4_000035 variant may affect CA4-expression levels PubMed: Yang 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamD PubMed: Yang 2005 2-generation family, affected father/son M - - white, Northern Europe - - - - 2 Johan den Dunnen
-/. 8 c.*89G>A r.(?) p.(=) Unknown - benign g.58236874G>A g.60159513G>A - - CA4_000049 - PubMed: Tian 2010 - - Germline - 1/116 cases - - - DNA SEQ - - retinal disease - PubMed: Tian 2010 - - - China - - - - - 1 Johan den Dunnen
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