Full data view for gene SCAPER

Information The variants shown are described using the NM_020843.2 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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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.-42T>A r.(?) p.(=) Unknown - benign g.77176200A>T g.76883859A>T SCAPER(NM_020843.4):c.-42T>A - SCAPER_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1A>G r.(?) p.(Met1?) Unknown - benign g.77176158T>C g.76883817T>C SCAPER(NM_020843.4):c.1A>G (p.M1?) - SCAPER_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195+6949del r.(=) p.(=) Unknown - likely benign g.77143218del - SCAPER(NM_001353011.2):c.-325-8del - SCAPER_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.224C>T r.(?) p.(Ser75Leu) Unknown - likely benign g.77134244G>A - SCAPER(NM_001353009.2):c.224C>T (p.S75L) - SCAPER_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330T>G r.(?) p.(Leu110=) Unknown - likely benign g.77134138A>C - SCAPER(NM_001353009.1):c.330T>G (p.L110=) - SCAPER_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394-17dup r.(=) p.(=) Unknown - likely benign g.77096999dup - SCAPER(NM_001353009.2):c.394-17dupT - SCAPER_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394-12T>G r.(=) p.(=) Unknown - likely benign g.77096986A>C - SCAPER(NM_001353009.2):c.394-12T>G - SCAPER_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.595C>T r.(?) p.(Arg199Ter) Unknown - likely pathogenic g.77092605G>A - SCAPER(NM_020843.4):c.595C>T (p.R199*) - SCAPER_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.612-4A>G r.spl? p.? Unknown - benign g.77087785T>C g.76795444T>C SCAPER(NM_001145923.2):c.-286-4A>G - SCAPER_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625A>T r.(?) p.(Thr209Ser) Unknown ACMG VUS g.77087768T>A g.76795427T>A SCAPER c.625A>T, p.(Thr209Ser) - SCAPER_000072 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 41_49 PubMed: Zhu 2022 family 41, individual 49 M - - - - - - - 1 LOVD
-?/. - c.723C>G r.(?) p.(Pro241=) Unknown - likely benign g.77087670G>C g.76795329G>C SCAPER(NM_001353009.1):c.723C>G (p.P241=) - SCAPER_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829C>T r.(?) p.(Arg277*) Parent #1 - pathogenic (recessive) g.77067402G>A g.76775061G>A SCAPER c.829C>T, p.(Arg277*) - SCAPER_000066 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 5 PubMed: Fasham 2019 - F - United States - - - - - 1 LOVD
-?/. - c.835A>G r.(?) p.(Thr279Ala) Unknown - likely benign g.77067396T>C - SCAPER(NM_001353009.2):c.835A>G (p.T279A) - SCAPER_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839C>T r.(?) p.(Ala280Val) Unknown - likely benign g.77067392G>A - SCAPER(NM_001353009.1):c.839C>T (p.A280V) - SCAPER_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.893G>A r.(?) p.(Ser298Asn) Unknown - likely benign g.77067338C>T g.76774997C>T SCAPER(NM_001145923.1):c.155G>A (p.(Ser52Asn)) - SCAPER_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.897T>G r.(?) p.(Asp299Glu) Unknown - likely benign g.77067334A>C - SCAPER(NM_001353009.1):c.897T>G (p.D299E) - SCAPER_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.977A>G r.(?) p.(Glu326Gly) Unknown - VUS g.77067254T>C - SCAPER(NM_001353009.1):c.977A>G (p.E326G) - SCAPER_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082G>A r.(?) p.(Arg361Gln) Unknown - likely benign g.77064249C>T - SCAPER(NM_001353009.1):c.1082G>A (p.R361Q) - SCAPER_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1092dupT r.(?) p.(Val365Cysfs*5) Both (homozygous) ACMG likely pathogenic (recessive) g.77064239dup g.76771898dup SCAPER c.1092dupT, p.[Val365Cysfs*5] - SCAPER_000065 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease IV:1 PubMed: Kahrizi 2019 Family 3 (M8600086) M yes - - - - - - 1 LOVD
+?/. 9 c.1092dupT r.(?) p.(Val365Cysfs*5) Both (homozygous) ACMG likely pathogenic (recessive) g.77064239dup g.76771898dup SCAPER c.1092dupT, p.[Val365Cysfs*5] - SCAPER_000065 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease IV:2 PubMed: Kahrizi 2019 Family 3 (M8600086) F yes - - - - - - 1 LOVD
+?/. 9 c.1092dupT r.(?) p.(Val365Cysfs*5) Both (homozygous) ACMG likely pathogenic (recessive) g.77064239dup g.76771898dup SCAPER c.1092dupT, p.[Val365Cysfs*5] - SCAPER_000065 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease IV:3 PubMed: Kahrizi 2019 Family 3 (M8600086) M yes - - - - - - 1 LOVD
+?/. 9 c.1092dupT r.(?) p.(Val365Cysfs*5) Both (homozygous) ACMG likely pathogenic (recessive) g.77064239dup g.76771898dup SCAPER c.1092dupT, p.[Val365Cysfs*5] - SCAPER_000065 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease IV:5 PubMed: Kahrizi 2019 Family 3 (M8600086) M yes - - - - - - 1 LOVD
+/. - c.1096C>T r.(?) p.(Arg366Ter) Both (homozygous) ACMG pathogenic (recessive) g.77064235G>A g.76771894G>A NM_001145923:c.358C>T - SCAPER_000045 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8500314 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes - Baloch - - - - 3 Johan den Dunnen
+/. 9 c.1096C>T r.(?) p.(Arg366*) Both (homozygous) ACMG pathogenic (recessive) g.77064235G>A g.76771894G>A SCAPER c.1096C>T, p.[Arg366*] - SCAPER_000045 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease II:1 PubMed: Kahrizi 2019 Family 2 (M8500314) F yes - - - - - - 1 LOVD
+/. 9 c.1096C>T r.(?) p.(Arg366*) Both (homozygous) ACMG pathogenic (recessive) g.77064235G>A g.76771894G>A SCAPER c.1096C>T, p.[Arg366*] - SCAPER_000045 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease II:2 PubMed: Kahrizi 2019 Family 2 (M8500314) M yes - - - - - - 1 LOVD
+/. 9 c.1096C>T r.(?) p.(Arg366*) Both (homozygous) ACMG pathogenic (recessive) g.77064235G>A g.76771894G>A SCAPER c.1096C>T, p.[Arg366*] - SCAPER_000045 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease II:4 PubMed: Kahrizi 2019 Family 2 (M8500314) M yes - - - - - - 1 LOVD
+/. - c.1116del r.(?) p.(Val373Serfs*21) Unknown - pathogenic g.77064215del g.76771874del SCAPER c.1116delT, p.Val373SerfsTer21 - SCAPER_000047 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001284 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1116del r.(?) p.(Val373SerfsTer21) Parent #2 - VUS g.77064215del g.76771874del 1116delT - SCAPER_000047 candidate disease gene PubMed: Carss 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease G001284 PubMed: Carss 2017 patient F - - Asia-S - - - - 1 Johan den Dunnen
+/. - c.1116delT r.(?) p.(Val373Serfs*21) Parent #2 - pathogenic (recessive) g.77064215del g.76771874del SCAPER c.1116delT, p.(Val373Serfs*21) - SCAPER_000047 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 3 PubMed: Fasham 2019 - F - United States South Asian - - - - 1 LOVD
?/. - c.1271A>G r.(?) p.(Lys424Arg) Unknown - VUS g.77059407T>C - SCAPER(NM_001353009.1):c.1289A>G (p.K430R) - SCAPER_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381_1383del r.(?) p.(Asp461del) Unknown - VUS g.77059297_77059299del - SCAPER(NM_001353009.2):c.1399_1401delGAT (p.D467del) - SCAPER_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473C>T r.(?) p.(Asn491=) Unknown - likely benign g.77057926G>A - SCAPER(NM_001353009.1):c.1491C>T (p.N497=) - SCAPER_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1495+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.77057903C>T g.76765562C>T SCAPER c.1495+1G>A - SCAPER_000064 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 4 PubMed: Fasham 2019 - F - United States Caucasian - - - - 1 LOVD
?/. - c.1496-4A>G r.spl? p.? Unknown - VUS g.77057799T>C - SCAPER(NM_001353009.1):c.1514-4A>G - SCAPER_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1728G>A r.(?) p.(Glu576=) Unknown - likely benign g.77046287C>T g.76753946C>T SCAPER(NM_001353009.1):c.1746G>A (p.E582=), SCAPER(NM_001353009.2):c.1746G>A (p.E582=) - SCAPER_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1728G>A r.(?) p.(Glu576=) Unknown - likely benign g.77046287C>T - SCAPER(NM_001353009.1):c.1746G>A (p.E582=), SCAPER(NM_001353009.2):c.1746G>A (p.E582=) - SCAPER_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1859_1861del r.(?) p.(Glu620del) Parent #2 - likely pathogenic (recessive) g.77046154_77046156del - - - SCAPER_000033 - PubMed: Tatour 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamC PubMed: Tatour 2017 1-generation family, 1 affected M - Spain - - - - - 1 Johan den Dunnen
?/. - c.1866+3A>G r.spl? p.? Unknown - VUS g.77046146T>C g.76753805T>C SCAPER(NM_001145923.1):c.1128+3A>G - SCAPER_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _14_16_ c.2165+2050_1867-2765del r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.77018886_77028490del g.76726545_76736149del SCAPER g.77018886_77028490del, del exon 15&16 - SCAPER_000062 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, PCRq blood whole-exome sequencing retinal disease III:6 PubMed: Kahrizi 2019 Family 1 M yes - - - - - - 1 LOVD
+?/. _14_16_ c.2165+2050_1867-2765del r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.77018886_77028490del g.76726545_76736149del SCAPER g.77018886_77028490del, del exon 15&16 - SCAPER_000062 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, PCRq blood whole-exome sequencing retinal disease III:7 PubMed: Kahrizi 2019 Family 1 F yes - - - - - - 1 LOVD
-?/. - c.1867-18T>C r.(=) p.(=) Unknown - likely benign g.77025743A>G g.76733402A>G SCAPER(NM_001353009.2):c.1885-18T>C - SCAPER_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.1883T>G r.(?) p.(Phe628Cys) Both (homozygous) ACMG VUS g.77025709A>C g.76733368A>C SCAPER c.1883T>G, p.[Phe628Cys] - SCAPER_000063 homozygous PubMed: Kahrizi 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing retinal disease VI:1 PubMed: Kahrizi 2019 Family 4 (D87500) F yes - - - - - - 1 LOVD
+?/. - c.1895T>C r.(?) p.(Leu632Pro) Parent #1 ACMG likely pathogenic g.77025697A>G g.76733356A>G SCAPER, c.1895T>C, p.Leu632Pro, compound heterozygous - SCAPER_000048 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing retinal disease RP-0346 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
?/. - c.1918G>A r.(?) p.(Asp640Asn) Unknown - VUS g.77025674C>T - SCAPER(NM_001353009.1):c.1936G>A (p.D646N) - SCAPER_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2004A>T r.(?) p.(Ala668=) Unknown - benign g.77025588T>A g.76733247T>A SCAPER(NM_001353009.2):c.2022A>T (p.A674=) - SCAPER_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2023-2A>G r.2023_2031del p.Glu675_Lys677del Both (homozygous) ACMG pathogenic (recessive) g.77021080T>C - - - SCAPER_000030 - PubMed: Tatour 2017, PubMed: Sharon 2019 - - Germline yes 1/2420 IRD families - - - DNA SEQ - - retinal disease FamApatII:1 PubMed: Tatour 2017, PubMed: Sharon 2019 2-generation family, 2 affected sisters F yes Israel Muslim Arab - - - - 2 Global Variome, with Curator vacancy
+?/. - c.2023-2A>G r.(?) p.(?) Both (homozygous) - likely pathogenic g.77021080T>C g.76728739T>C SCAPER c.2023-2A>G, p.(?) - SCAPER_000030 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 102 PubMed: Jauregui 2020 - M - (United States) Other - - - - 1 LOVD
+/. - c.2023-2A>G r.(?) p.? Both (homozygous) - pathogenic (recessive) g.77021080T>C g.76728739T>C SCAPER c.2023-2A>G, p.? - SCAPER_000030 homozygous; splicing change confirmed PubMed: Tatour 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing BBS FamApatII:1 PubMed: Tatour 2017 sister of II:1 F yes Israel Arabic - - - - 1 LOVD
+?/. - c.2023-2A>G r.(?) p.? Both (homozygous) - pathogenic (recessive) g.77021080T>C g.76728739T>C SCAPER c.2023-2A>G - SCAPER_000030 homozygous PubMed: Jauregui 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing BBS ? PubMed: Jauregui 2019 patient's paternal grandmother and maternal grandfather are first cousi F yes United States Jordanian Arab - - - - 1 LOVD
+/. - c.2165+2T>G r.spl? p.? Unknown - pathogenic g.77020934A>C - SCAPER(NM_001353009.1):c.2183+2T>G - SCAPER_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2166-3C>G r.spl p.? Parent #2 - pathogenic (recessive) g.76998328G>C g.76705987G>C SCAPER c.2166-3C>G - SCAPER_000061 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 6 PubMed: Fasham 2019 - F - United States - - - - - 1 LOVD
+/. - c.2179C>T r.(?) p.(Arg727*) Unknown - pathogenic g.76998312G>A g.76705971G>A SCAPER c.2179C>T, p.Arg727Ter - SCAPER_000046 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001284 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.2179C>T r.(?) p.(Arg727*) Parent #1 - pathogenic (recessive) g.76998312G>A g.76705971G>A SCAPER c.2179C>T, p.(Arg727*) - SCAPER_000046 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 3 PubMed: Fasham 2019 - F - United States South Asian - - - - 1 LOVD
+?/. - c.2179C>T r.(?) p.(Arg727Ter) Parent #1 - VUS g.76998312G>A g.76705971G>A - - SCAPER_000046 candidate disease gene PubMed: Carss 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease G001284 PubMed: Carss 2017 patient F - - Asia-S - - - - 1 Johan den Dunnen
?/. - c.2215A>G r.(?) p.(Met739Val) Unknown - VUS g.76998276T>C - SCAPER(NM_001353009.1):c.2233A>G (p.M745V) - SCAPER_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2236dupA r.(?) p.(Ile746Asnfs*6) Both (homozygous) - pathogenic (recessive) g.76998261dup g.76705920dup SCAPER c.2236dupA, p.(Ile746Asnfs*6) - SCAPER_000060 homozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 1 PubMed: Fasham 2019 Amish family patient VII:1, brother of VII:5 M yes United States Amish - - - - 1 LOVD
+/. - c.2236dupA r.(?) p.(Ile746Asnfs*6) Both (homozygous) - pathogenic (recessive) g.76998261dup g.76705920dup SCAPER c.2236dupA, p.(Ile746Asnfs*6) - SCAPER_000060 homozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 2 PubMed: Fasham 2019 Amish family patient VII:5, sister of VII:1 F yes United States Amish - - - - 1 LOVD
?/. - c.2297A>G r.(?) p.(Glu766Gly) Unknown - VUS g.76995294T>C - SCAPER(NM_020843.4):c.2297A>G (p.(Glu766Gly)) - SCAPER_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2322G>A r.(?) p.(Gly774=) Unknown - likely benign g.76995269C>T - SCAPER(NM_001353009.1):c.2340G>A (p.G780=), SCAPER(NM_001353009.2):c.2340G>A (p.G780=) - SCAPER_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2322G>A r.(?) p.(Gly774=) Unknown - likely benign g.76995269C>T - SCAPER(NM_001353009.1):c.2340G>A (p.G780=), SCAPER(NM_001353009.2):c.2340G>A (p.G780=) - SCAPER_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2377C>T r.(?) p.(Gln793*) Parent #1 - pathogenic (recessive) g.76995214G>A g.76702873G>A SCAPER c.2377C>T, p.(Gln793*) - SCAPER_000059 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 6 PubMed: Fasham 2019 - F - United States - - - - - 1 LOVD
+/. - c.2417_2418del r.(?) p.(Tyr806Serfs*3) Unknown - pathogenic g.76994192_76994193del - SCAPER(NM_001353009.1):c.2435_2436delAT (p.Y812Sfs*3) - SCAPER_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2593C>T r.(?) p.(Arg865Trp) Unknown - VUS g.76958046G>A g.76665705G>A - - SCAPER_000019 - PubMed: Kiselev 2019 - rs772597677 Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
?/. - c.2605A>T r.(?) p.(Lys869*) Unknown - VUS g.76958034T>A - SCAPER(NM_001353009.2):c.2623A>T (p.K875*) - SCAPER_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2605A>T r.(?) p.(Lys869*) Parent #2 ACMG likely pathogenic g.76958034T>A g.76665693T>A SCAPER, c.2605A>T, p.Lys869*, compound heterozygous - SCAPER_000040 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing retinal disease RP-0346 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. - c.2653del r.(?) p.(Glu885Asnfs*5) Unknown - pathogenic g.76914164del - SCAPER(NM_001353009.2):c.2671delG (p.E891Nfs*5) - SCAPER_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2657A>T r.(?) p.(Tyr886Phe) Unknown - likely benign g.76914159T>A - SCAPER(NM_001353009.1):c.2675A>T (p.Y892F), SCAPER(NM_001353009.2):c.2675A>T (p.Y892F) - SCAPER_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2657A>T r.(?) p.(Tyr886Phe) Unknown - VUS g.76914159T>A - SCAPER(NM_001353009.1):c.2675A>T (p.Y892F), SCAPER(NM_001353009.2):c.2675A>T (p.Y892F) - SCAPER_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2712-7A>G r.(=) p.(=) Unknown - likely benign g.76866632T>C - SCAPER(NM_001353009.1):c.2730-7A>G - SCAPER_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood - BBS P1:V5 PubMed: Wormser 2019 pedigree 1 F yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing BBS P1:V6 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing BBS P1:V7 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood - BBS P1:V8 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood - BBS P2:III1 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood - BBS P2:III2 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood - BBS P2:III7 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - 1 LOVD
+?/. 22 c.2806delC r.(?) p.(Leu936*) Both (homozygous) - likely pathogenic (recessive) g.76866533del g.76574192del SCAPER c.2806delC, p.L936* - SCAPER_000058 homozygous PubMed: Wormser 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole-exome sequencing BBS P2:IV1 PubMed: Wormser 2019 pedigree 2 M yes Israel Bedouin - - - - 1 LOVD
-?/. - c.2955-7C>T r.(=) p.(=) Unknown - likely benign g.76763683G>A - SCAPER(NM_001353009.2):c.2973-7C>T - SCAPER_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2973_2976del r.(?) p.(Ile991Metfs*26) Both (homozygous) - pathogenic g.76763655_76763658del - - - SCAPER_000031 - PubMed: Tatour 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamB PubMed: Tatour 2017 1-generation family, 1 affected F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.3174T>C r.(?) p.(Ala1058=) Unknown - likely benign g.76726556A>G - SCAPER(NM_001353009.2):c.3192T>C (p.A1064=) - SCAPER_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3224delC r.(?) p.(Pro1075Glnfs*11) Parent #2 - pathogenic (recessive) g.76726507del g.76434166del SCAPER c.3224delC, p.(Pro1075Glnfs*11) - SCAPER_000057 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 4 PubMed: Fasham 2019 - F - United States Caucasian - - - - 1 LOVD
-/. - c.3265C>A r.(?) p.(Pro1089Thr) Unknown - benign g.76726465G>T g.76434124G>T SCAPER(NM_001145923.2):c.2527C>A (p.P843T) - SCAPER_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3290A>G r.(?) p.(Asn1097Ser) Unknown - benign g.76726440T>C g.76434099T>C SCAPER(NM_001353009.2):c.3308A>G (p.N1103S) - SCAPER_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3312-7T>C r.(=) p.(=) Unknown - benign g.76697027A>G - SCAPER(NM_001353009.2):c.3330-7T>C - SCAPER_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3316G>A r.(?) p.(Val1106Met) Unknown - likely benign g.76697016C>T g.76404675C>T SCAPER(NM_001145923.1):c.2578G>A (p.(Val860Met)) - SCAPER_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3418G>A r.(?) p.(Ala1140Thr) Unknown - benign g.76696914C>T - SCAPER(NM_001353009.2):c.3436G>A (p.A1146T) - SCAPER_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 27 c.3468G>A r.(spl?) p.(Arg1156=) Unknown - VUS g.76673956C>T g.76381615C>T - - SCAPER_000001 - PubMed: Quadri 2014 - rs199859385 Germline - - - - - DNA SEQ, SEQ-NG-I, TaqMan - - PD - PubMed: Quadri 2014 - - - Italy Sardinians - - - - 32 Marialuisa Quadri
?/. - c.3496C>G r.(?) p.(Gln1166Glu) Unknown - VUS g.76673928G>C - SCAPER(NM_001353009.1):c.3514C>G (p.Q1172E) - SCAPER_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3616G>A r.(?) p.(Glu1206Lys) Unknown - likely benign g.76673808C>T - SCAPER(NM_001353009.1):c.3634G>A (p.E1212K), SCAPER(NM_001353009.2):c.3634G>A (p.E1212K) - SCAPER_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3616G>A r.(?) p.(Glu1206Lys) Unknown - likely benign g.76673808C>T - SCAPER(NM_001353009.1):c.3634G>A (p.E1212K), SCAPER(NM_001353009.2):c.3634G>A (p.E1212K) - SCAPER_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3656G>A r.(?) p.(Ser1219Asn) Maternal (confirmed) - likely pathogenic (recessive) g.76673768C>T - - - SCAPER_000032 - PubMed: Tatour 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamC PubMed: Tatour 2017 1-generation family, 1 affected M - Spain - - - - - 1 Johan den Dunnen
?/. - c.3661C>T r.(?) p.(Arg1221Cys) Unknown - VUS g.76673763G>A - - - SCAPER_000076 - - - rs1297546100 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3705+3A>G r.spl? p.? Unknown - benign g.76673716T>C g.76381375T>C SCAPER(NM_001145923.2):c.2967+3A>G - SCAPER_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3707_3708delCT r.(?) p.(Ser1236Tyrfs*28) Parent #2 - pathogenic (recessive) g.76668651_76668652del g.76376310_76376311del SCAPER c.3707_3708delCT, p.(Ser1236Tyrfs*28) - SCAPER_000056 heterozygous PubMed: Fasham 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing or whole genome sequencing retinal disease Patient 5 PubMed: Fasham 2019 - F - United States - - - - - 1 LOVD
-?/. - c.3811A>G r.(?) p.(Ile1271Val) Unknown - likely benign g.76668547T>C - SCAPER(NM_001353009.1):c.3829A>G (p.I1277V) - SCAPER_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3813C>T r.(?) p.(Ile1271=) Unknown - likely benign g.76668545G>A - SCAPER(NM_001353009.1):c.3831C>T (p.I1277=) - SCAPER_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3877C>A r.(?) p.(His1293Asn) Unknown - VUS g.76646460G>T - SCAPER(NM_020843.4):c.3877C>A (p.(His1293Asn)) - SCAPER_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3882C>G r.(?) p.(Pro1294=) Unknown - benign g.76646455G>C g.76354114G>C SCAPER(NM_001353009.2):c.3900C>G (p.P1300=) - SCAPER_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4048-2A>G r.spl? p.? Unknown - VUS g.76643631T>C g.76351290T>C SCAPER(NM_001145923.1):c.3310-2A>G - SCAPER_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4100-4_4100-3del r.spl? p.? Unknown - likely benign g.76641083_76641084del - SCAPER(NM_020843.4):c.4100-4_4100-3del - SCAPER_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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