Full data view for gene CAPN5

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004055.4 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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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.-36+3652A>G r.(=) p.(=) Both (homozygous) - VUS g.76781793A>G g.77070746= - - CAPN5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. 5 c.? r.(?) p.? Unknown - likely pathogenic g.76825452C>T - c.671C>T - CAPN5_000055 - PubMed: Zhou-2011 - rs200993761 Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+/. - c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.76795934T>C g.77084888T>C - - CAPN5_000051 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM666 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
-?/. - c.21C>G r.(?) p.(Pro7=) Unknown - likely benign g.76795953C>G g.77084907C>G CAPN5(NM_004055.4):c.21C>G (p.P7=), CAPN5(NM_004055.5):c.21C>G (p.P7=) - CAPN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21C>G r.(?) p.(Pro7=) Unknown - likely benign g.76795953C>G - CAPN5(NM_004055.4):c.21C>G (p.P7=), CAPN5(NM_004055.5):c.21C>G (p.P7=) - CAPN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52C>T r.(?) p.(Arg18Trp) Parent #1 - likely benign g.76795984C>T g.77084938C>T - - CAPN5_000040 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149132399 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - likely benign g.76795984C>T - CAPN5(NM_004055.5):c.52C>T (p.R18W) - CAPN5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53G>A r.(?) p.(Arg18Gln) Unknown - VUS g.76795985G>A g.77084939G>A CAPN5(NM_004055.4):c.53G>A (p.R18Q), CAPN5(NM_004055.5):c.53G>A (p.R18Q) - CAPN5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53G>A r.(?) p.(Arg18Gln) Unknown - benign g.76795985G>A g.77084939G>A CAPN5(NM_004055.4):c.53G>A (p.R18Q), CAPN5(NM_004055.5):c.53G>A (p.R18Q) - CAPN5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61C>T r.(?) p.(Arg21Trp) Unknown - VUS g.76795993C>T g.77084947C>T - - CAPN5_000052 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP316 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
-/. - c.86A>C r.(?) p.(Asp29Ala) Unknown - benign g.76796018A>C g.77084972A>C CAPN5(NM_004055.5):c.86A>C (p.D29A) - CAPN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91del r.(?) p.(Leu31SerfsTer132) Unknown - likely benign g.76796023del g.77084977del CAPN5(NM_004055.5):c.91delC (p.L31Sfs*132) - CAPN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91del r.(?) p.(Leu31SerfsTer132) Unknown ACMG VUS g.76796023del g.77084977del - - CAPN5_000017 ACMG PM2, PM1, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-482 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-/. - c.95T>C r.(?) p.(Phe32Ser) Unknown - benign g.76796027T>C g.77084981T>C CAPN5(NM_004055.5):c.95T>C (p.F32S) - CAPN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.109G>A r.(?) p.(Asp37Asn) Parent #1 - VUS g.76796041G>A g.77084995G>A - - CAPN5_000045 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690926 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 2 c.109G>A r.(?) p.(Asp37Asn) Unknown - likely pathogenic g.76796041G>A - c.109G>A - CAPN5_000045 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - VUS g.76796075C>T g.77085029C>T CAPN5(NM_004055.4):c.143C>T (p.A48V) - CAPN5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.145G>A r.(?) p.(Val49Ile) Unknown - benign g.76796077G>A - CAPN5(NM_004055.5):c.145G>A (p.V49I) - CAPN5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166-4G>A r.spl? p.? Unknown - likely benign g.76804724G>A g.77093678G>A CAPN5(NM_004055.4):c.166-4G>A - CAPN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197A>G r.(?) p.(Asp66Gly) Unknown - likely benign g.76804759A>G g.77093713A>G CAPN5(NM_004055.4):c.197A>G (p.D66G) - CAPN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(His71=) Unknown - likely benign g.76804775C>T - CAPN5(NM_004055.4):c.213C>T (p.H71=), CAPN5(NM_004055.5):c.213C>T (p.H71=) - CAPN5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(His71=) Unknown - likely benign g.76804775C>T - CAPN5(NM_004055.4):c.213C>T (p.H71=), CAPN5(NM_004055.5):c.213C>T (p.H71=) - CAPN5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>A r.(?) p.(Asp72Asn) Unknown - likely benign g.76804776G>A g.77093730G>A CAPN5(NM_004055.4):c.214G>A (p.D72N), CAPN5(NM_004055.5):c.214G>A (p.D72N) - CAPN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>A r.(?) p.(Asp72Asn) Unknown - likely benign g.76804776G>A - CAPN5(NM_004055.4):c.214G>A (p.D72N), CAPN5(NM_004055.5):c.214G>A (p.D72N) - CAPN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245G>C r.(?) p.(Trp82Ser) Unknown - VUS g.76804807G>C g.77093761G>C - - CAPN5_000053 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP255 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.278G>A r.(?) p.(Arg93Gln) Unknown - likely benign g.76804840G>A - CAPN5(NM_004055.4):c.278G>A (p.(Arg93Gln)) - CAPN5_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285G>A r.(?) p.(Ser95=) Unknown - likely benign g.76804847G>A g.77093801G>A CAPN5(NM_004055.4):c.285G>A (p.S95=) - CAPN5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.297+1G>T r.spl? p.? Unknown - VUS g.76804860G>T - - - CAPN5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.298-19C>T r.(=) p.(=) Unknown - likely benign g.76823616C>T - CAPN5(NM_004055.5):c.298-19C>T - CAPN5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.298-9C>G r.(=) p.(=) Unknown - benign g.76823626C>G g.77112580C>G CAPN5(NM_004055.5):c.298-9C>G - CAPN5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.298-2A>C r.spl p.(?) Unknown - VUS g.76823633A>C g.77112587A>C CAPN5 c.298-2A>C - CAPN5_000060 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI1319_002468 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
-?/. - c.300C>T r.(?) p.(Val100=) Unknown - likely benign g.76823637C>T - CAPN5(NM_004055.4):c.300C>T (p.V100=) - CAPN5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336A>G r.(?) p.(Glu112=) Unknown - likely benign g.76823673A>G - CAPN5(NM_004055.4):c.336A>G (p.E112=) - CAPN5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - likely benign g.76823716C>T - CAPN5(NM_004055.4):c.379C>T (p.R127C) - CAPN5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>A r.(?) p.(Gly129Arg) Unknown - VUS g.76823722G>A - - - CAPN5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391T>A r.(?) p.(Trp131Arg) Parent #1 ACMG VUS g.76823728T>A g.77112682T>A - - CAPN5_000074 ACMG PP3, PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-267 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
-/. - c.399C>T r.(?) p.(Asp133=) Unknown - benign g.76823736C>T g.77112690C>T CAPN5(NM_004055.5):c.399C>T (p.D133=) - CAPN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.528_540del r.(?) p.(Leu177Thrfs*19) Unknown - VUS g.76825309_76825321del - CAPN5(NM_004055.5):c.528_540delCCTGGATGGAGGC (p.L177Tfs*19) - CAPN5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582T>C r.(?) p.(Ser194=) Unknown - likely benign g.76825363T>C g.77114317T>C CAPN5(NM_004055.4):c.582T>C (p.S194=), CAPN5(NM_004055.5):c.582T>C (p.S194=) - CAPN5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.582T>C r.(?) p.(Ser194=) Unknown - benign g.76825363T>C g.77114317T>C CAPN5(NM_004055.4):c.582T>C (p.S194=), CAPN5(NM_004055.5):c.582T>C (p.S194=) - CAPN5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>T r.(?) p.(Asn206=) Unknown - likely benign g.76825399C>T g.77114353C>T CAPN5(NM_004055.4):c.618C>T (p.N206=) - CAPN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.671G>T r.(?) p.(Arg224Leu) Parent #1 - VUS g.76825452G>T - 671C>T - CAPN5_000046 - PubMed: Zhou 2018 - rs200993761 Germline - - - - - DNA SEQ-NG - WES retinal disease 690734 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
?/. - c.721del r.(?) p.(Glu241ArgfsTer9) Unknown - VUS g.76826462del g.77115416del CAPN5(NM_004055.4):c.721delG (p.E241Rfs*9) - CAPN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728G>T r.(?) p.(Arg243Leu) Parent #1 - pathogenic (dominant) g.76826469G>T g.77115423G>T - - CAPN5_000068 - PubMed: Mahajan 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamADNIV1 PubMed: Mahajan 2012 7-generation family, 61 affected (36F, 25M) F;M no United States - - - - - 61 Johan den Dunnen
+/. - c.728G>T r.(?) p.(Arg243Leu) Parent #1 - pathogenic (dominant) g.76826469G>T g.77115423G>T - - CAPN5_000068 - PubMed: Mahajan 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamADNIV2 PubMed: Mahajan 2012 4-generation family, 7 affected (3F, 4M) F;M no United States - - - - - 7 Johan den Dunnen
+/. - c.731T>C r.(?) p.(Leu244Pro) Parent #1 - pathogenic (dominant) g.76826472T>C g.77115426T>C - - CAPN5_000069 - PubMed: Mahajan 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamADNIV2 PubMed: Mahajan 2012 4-generation family, 31 affected (18F, 13M) F;M no United States - - - - - 31 Johan den Dunnen
-?/. - c.738C>T r.(?) p.(Cys246=) Unknown - likely benign g.76826479C>T g.77115433C>T CAPN5(NM_004055.4):c.738C>T (p.C246=) - CAPN5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.762C>A r.(?) p.(Tyr254*) Unknown - VUS g.76826503C>A - CAPN5(NM_004055.5):c.762C>A (p.Y254*) - CAPN5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804A>G r.(?) p.(Leu268=) Unknown - likely benign g.76826545A>G g.77115499A>G CAPN5(NM_004055.4):c.804A>G (p.L268=), CAPN5(NM_004055.5):c.804A>G (p.L268=) - CAPN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804A>G r.(?) p.(Leu268=) Unknown - benign g.76826545A>G g.77115499A>G CAPN5(NM_004055.4):c.804A>G (p.L268=), CAPN5(NM_004055.5):c.804A>G (p.L268=) - CAPN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842G>A r.(?) p.(Arg281His) Unknown - likely benign g.76826583G>A - CAPN5(NM_004055.5):c.842G>A (p.R281H) - CAPN5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842G>A r.(?) p.(Arg281His) Unknown - VUS g.76826583G>A - CAPN5(NM_004055.5):c.842G>A (p.R281H) - CAPN5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.865C>T r.(?) p.(Arg289Trp) Unknown - VUS g.76826606C>T g.77115560C>T - - CAPN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866G>A r.(?) p.(Arg289Gln) Unknown - VUS g.76826607G>A g.77115561G>A CAPN5(NM_004055.5):c.866G>A (p.R289Q) - CAPN5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.893C>T r.(?) p.(Thr298Ile) Parent #1 - VUS g.76826634C>T g.77115588C>T - - CAPN5_000047 - PubMed: Zhou 2018 - rs566712391 Germline - - - - - DNA SEQ-NG - WES retinal disease 690988 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
?/. - c.893C>T r.(?) p.(Thr298Ile) Unknown - VUS g.76826634C>T g.77115588C>T - - CAPN5_000047 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP295 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+?/. 6 c.893C>T r.(?) p.(Thr298Ile) Unknown - likely pathogenic g.76826634C>T - c.893C>T - CAPN5_000047 - PubMed: Zhou-2011 - rs566712391 Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
-?/. - c.894-3C>T r.spl? p.? Unknown - likely benign g.76827269C>T g.77116223C>T CAPN5(NM_004055.4):c.894-3C>T, CAPN5(NM_004055.5):c.894-3C>T - CAPN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.894-3C>T r.spl? p.? Unknown - likely benign g.76827269C>T - CAPN5(NM_004055.4):c.894-3C>T, CAPN5(NM_004055.5):c.894-3C>T - CAPN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.981C>T r.(?) p.(Phe327=) Unknown - benign g.76829212C>T g.77118166C>T CAPN5(NM_004055.5):c.981C>T (p.F327=) - CAPN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024G>A r.(?) p.(Val342Met) Parent #1 - VUS g.76829255G>A g.77118209G>A - - CAPN5_000048 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680820 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 8 c.1024G>A r.(?) p.(Val342Met) Unknown - likely pathogenic g.76829255G>A - c.1024G>A - CAPN5_000048 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - VUS g.76829255G>A - CAPN5(NM_004055.5):c.1024G>A (p.V342M) - CAPN5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1092G>A r.(?) p.(Thr364=) Unknown - benign g.76829323G>A g.77118277G>A CAPN5(NM_004055.5):c.1092G>A (p.T364=) - CAPN5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125C>T r.(?) p.(Gly375=) Unknown - likely benign g.76829356C>T - CAPN5(NM_004055.5):c.1125C>T (p.G375=) - CAPN5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150T>G r.(?) p.(Phe384Val) Unknown - VUS g.76829381T>G g.77118335T>G - - CAPN5_000050 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-107 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
?/. - c.1150T>G r.(?) p.(Phe384Val) Unknown - VUS g.76829381T>G g.77118335T>G - - CAPN5_000050 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-078 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
-?/. - c.1167+7G>A r.(=) p.(=) Unknown - likely benign g.76829405G>A g.77118359G>A - - CAPN5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1290+3G>A r.spl? p.? Unknown - likely benign g.76830201G>A - CAPN5(NM_004055.4):c.1290+3G>A - CAPN5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1290+20C>T r.(=) p.(=) Unknown - benign g.76830218C>T g.77119172C>T CAPN5(NM_004055.5):c.1290+20C>T - CAPN5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1291-11G>A r.(=) p.(=) Unknown - benign g.76831748G>A g.77120702G>A CAPN5(NM_004055.5):c.1291-11G>A - CAPN5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1339G>A r.(?) p.(Ala447Thr) Unknown - VUS g.76831807G>A g.77120761G>A - - CAPN5_000054 0/1266 control chromosomes PubMed: Xu 2015 - rs144340565 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP388 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.1369G>A r.(?) p.(Val457Ile) Unknown - VUS g.76831837G>A g.77120791G>A CAPN5(NM_004055.4):c.1369G>A (p.V457I) - CAPN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1400G>A r.(?) p.(Arg467His) Unknown - VUS g.76831868G>A - CAPN5(NM_004055.5):c.1400G>A (p.R467H) - CAPN5_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1401C>T r.(?) p.(Arg467=) Unknown - benign g.76831869C>T g.77120823C>T CAPN5(NM_004055.5):c.1401C>T (p.R467=) - CAPN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411A>C r.(?) p.(Ile471Leu) Unknown - VUS g.76831879A>C g.77120833A>C CAPN5(NM_004055.4):c.1411A>C (p.I471L) - CAPN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425C>T r.(?) p.(Phe475=) Unknown - likely benign g.76831893C>T g.77120847C>T CAPN5(NM_004055.4):c.1425C>T (p.F475=), CAPN5(NM_004055.5):c.1425C>T (p.F475=) - CAPN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425C>T r.(?) p.(Phe475=) Unknown - likely benign g.76831893C>T g.77120847C>T CAPN5(NM_004055.4):c.1425C>T (p.F475=), CAPN5(NM_004055.5):c.1425C>T (p.F475=) - CAPN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1486C>T r.(?) p.(Arg496Trp) Unknown - VUS g.76831954C>T g.77120908C>T CAPN5(NM_004055.4):c.1486C>T (p.R496W) - CAPN5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1495C>T r.(?) p.(Arg499Cys) Unknown - VUS g.76832987C>T g.77121941C>T CAPN5(NM_004055.4):c.1495C>T (p.R499C) - CAPN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1566T>C r.(?) p.(His522=) Unknown - likely benign g.76833058T>C - CAPN5(NM_004055.4):c.1566T>C (p.H522=) - CAPN5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1648C>T r.(?) p.(Arg550Cys) Unknown - likely benign g.76833666C>T g.77122620C>T - - CAPN5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1740+6C>A r.(=) p.(=) Unknown - likely benign g.76833764C>A - CAPN5(NM_004055.4):c.1740+6C>A - CAPN5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1741-12G>T r.(=) p.(=) Unknown - benign g.76834722G>T g.77123676G>T CAPN5(NM_004055.5):c.1741-12G>T - CAPN5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1788C>A r.(?) p.(His596Gln) Unknown - VUS g.76834781C>A g.77123735C>A CAPN5(NM_004055.4):c.1788C>A (p.H596Q) - CAPN5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1818C>T r.(?) p.(Ala606=) Unknown - likely benign g.76834811C>T - CAPN5(NM_004055.4):c.1818C>T (p.A606=) - CAPN5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1837C>T r.(?) p.(Arg613Trp) Unknown - likely benign g.76834830C>T - CAPN5(NM_004055.5):c.1837C>T (p.R613W) - CAPN5_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1844G>A r.(?) p.(Arg615Gln) Unknown - likely benign g.76834837G>A g.77123791G>A CAPN5(NM_004055.5):c.1844G>A (p.R615Q) - CAPN5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1866C>T r.(?) p.(Asn622=) Unknown - benign g.76834859C>T g.77123813C>T CAPN5(NM_004055.5):c.1866C>T (p.N622=) - CAPN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1887G>A r.(?) p.(Val629=) Unknown - likely benign g.76834880G>A g.77123834G>A CAPN5(NM_004055.4):c.1887G>A (p.V629=) - CAPN5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1894C>A r.(?) p.(Leu632Ile) Unknown - benign g.76834887C>A g.77123841C>A CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I) - CAPN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1894C>A r.(?) p.(Leu632Ile) Unknown - likely benign g.76834887C>A g.77123841C>A CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I) - CAPN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1905C>T r.(?) p.(Thr635=) Unknown - likely benign g.76834898C>T g.77123852C>T CAPN5(NM_004055.4):c.1905C>T (p.T635=) - CAPN5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1912A>G r.(?) p.(Met638Val) Unknown - likely benign g.76834905A>G - CAPN5(NM_004055.4):c.1912A>G (p.M638V) - CAPN5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6754G>A r.(=) p.(=) Unknown - likely benign g.76841670G>A - MYO7A(NM_000260.4):c.-11G>A - CAPN5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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