Full data view for gene CSPP1

Information The variants shown are described using the NM_024790.6 transcript reference sequence.

203 entries on 3 pages. 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.-12C>T r.(?) p.(=) Unknown - benign g.67976622C>T g.67064387C>T CSPP1(NM_024790.6):c.-12C>T - CSPP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8T>A r.(?) p.(Phe3Tyr) Unknown - likely benign g.67976641T>A - CSPP1(NM_024790.6):c.8T>A (p.F3Y) - COPS5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53C>T r.(?) p.(Pro18Leu) Unknown - VUS g.67976686C>T g.67064451C>T CSPP1(NM_024790.6):c.53C>T (p.P18L) - COPS5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151A>T r.(?) p.(Arg51*) Unknown - pathogenic g.67986530A>T - CSPP1(NM_024790.6):c.151A>T (p.R51*) - CSPP1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154T>C r.(?) p.(Leu52=) Unknown - benign g.67986533T>C g.67074298T>C CSPP1(NM_024790.6):c.154T>C (p.L52=) - CSPP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Ala53=) Unknown - likely benign g.67986538C>T g.67074303C>T CSPP1(NM_024790.6):c.159C>T (p.A53=, p.(Ala53=)) - CSPP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Ala53=) Unknown - likely benign g.67986538C>T - CSPP1(NM_024790.6):c.159C>T (p.A53=, p.(Ala53=)) - CSPP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.167_168del r.(?) p.(Lys56Serfs*6) Unknown ACMG pathogenic g.67986546_67986547del g.67074311_67074312del CSPP1 c.167_168del, p.(Lys56Serfs*6) - CSPP1_000091 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.167_168del r.(?) p.(Lys56Serfs*6) Unknown - likely pathogenic g.67986546_67986547del - CSPP1(NM_001382391.1):c.59_60del (p.(Lys20SerfsTer6)) - CSPP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-13A>G r.(=) p.(=) Unknown - likely benign g.67988704A>G - CSPP1(NM_001382391.1):c.100-13A>G, CSPP1(NM_024790.6):c.208-13A>G - CSPP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-13A>G r.(=) p.(=) Unknown - likely benign g.67988704A>G - CSPP1(NM_001382391.1):c.100-13A>G, CSPP1(NM_024790.6):c.208-13A>G - CSPP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212A>G r.(?) p.(Lys71Arg) Unknown - VUS g.67988721A>G g.67076486A>G CSPP1(NM_001363131.1):c.104A>G (p.K35R), CSPP1(NM_001363131.2):c.104A>G (p.K35R), CSPP1(NM_024790.6):c.212A>G (p.K71R) - CSPP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212A>G r.(?) p.(Lys71Arg) Unknown - likely benign g.67988721A>G - CSPP1(NM_001363131.1):c.104A>G (p.K35R), CSPP1(NM_001363131.2):c.104A>G (p.K35R), CSPP1(NM_024790.6):c.212A>G (p.K71R) - CSPP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.363_364del r.(?) p.(His121Glnfs22) Both (homozygous) - pathogenic g.67998297_67998298del g.67086062_67086063del 363_364delTA - CSPP1_000021 - PubMed: Shaheen 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Shaheen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Canada Hutterite, Schmiedeleut - - - - 1 Marianne Vos (LOVD-team)
+/. 4 c.363_364del r.(?) p.(His121Glnfs22) Both (homozygous) - pathogenic g.67998297_67998298del g.67086062_67086063del 363_364delTA - CSPP1_000021 - PubMed: Shaheen 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Shaheen 2014 2-generation family, 2 affected, unaffected heterozygous carrier parents, sister of 24360803-Fam3PatII2 F yes Canada Schmiedeleut Hutterite 00y00m28d - - - 2 Marianne Vos (LOVD-team)
+/. 4 c.363_364del r.(?) p.(His121Glnfs22) Both (homozygous) - pathogenic g.67998297_67998298del g.67086062_67086063del 363_364delTA - CSPP1_000021 - PubMed: Shaheen 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Shaheen 2014 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Canada Hutterite, Schmiedeleut 00y00m24d - - - 1 Marianne Vos (LOVD-team)
+/. - c.363_364del r.(?) p.(His121Glnfs*22) Parent #2 - pathogenic g.67998297_67998298del g.67086062_67086063del NM_024790.6:c.362_363delAT - CSPP1_000021 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW290-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
?/. - c.370A>G r.(?) p.(Lys124Glu) Unknown - VUS g.67998304A>G - CSPP1(NM_001382391.1):c.262A>G (p.(Lys88Glu)) - CSPP1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.409C>T r.(?) p.(Gln137Ter) Unknown - likely pathogenic g.67998343C>T g.67086108C>T CSPP1(NM_001363131.1):c.301C>T (p.Q101*) - CSPP1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.457del r.(?) p.(Arg153Glyfs*35) Maternal (confirmed) - pathogenic g.68005823del g.67093588del 457delA - CSPP1_000010 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Tuz 2014 - ? ? China Chinese - - - - 1 Marianne Vos (LOVD-team)
+/. - c.457del r.(?) p.(Arg153Glyfs*35) Parent #1 - pathogenic g.68005823del g.67093588del NM_024790.6:c.457delA - CSPP1_000010 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW128-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.457_458del r.(?) p.(Arg153GlyfsTer2) Paternal (confirmed) - pathogenic g.68005823_68005824del g.67093588_67093589del - - CSPP1_000073 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam8 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
-?/. - c.510+29A>G r.(=) p.(=) Maternal (confirmed) - likely benign g.68005905A>G - - - CSPP1_000087 effect on splicing predicted from mini-gene splicing assay PubMed: Cebeci 2020 - rs138567800 Germline - - - - - DNA SEQ, SEQ-NG - WES SureSelect V5 (Agilent) HR family PubMed: Cebeci 2020 3-generation family, 5 affected (4F, M) F;M - Saudi Arabia - - - - - 5 Johan den Dunnen
-?/. - c.511-15T>G r.(=) p.(=) Unknown - likely benign g.68007513T>G - CSPP1(NM_024790.6):c.511-15T>G - CSPP1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.652C>T r.(?) p.(Gln218*) Maternal (confirmed) - pathogenic g.68007669C>T g.67095434C>T - - CSPP1_000016 - PubMed: Tuz 2014 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - JBTS - PubMed: Tuz 2014 2-generation family, 2 affected, unaffected heterozygous carrier parents ? ? - European, north - - - - 2 Marianne Vos (LOVD-team)
+/. 6 c.658C>T r.(?) p.(Arg220*) Paternal (confirmed) - pathogenic g.68007675C>T g.67095440C>T - - CSPP1_000012 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Tuz 2014 - ? ? Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. 6 c.658C>T r.(?) p.(Arg220*) Paternal (confirmed) - pathogenic g.68007675C>T g.67095440C>T - - CSPP1_000012 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Tuz 2014 - ? ? Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. - c.658C>T r.(?) p.(Arg220*) Parent #1 - pathogenic g.68007675C>T g.67095440C>T NM_024790.6:c.658C>T - CSPP1_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW129-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.658C>T r.(?) p.(Arg220*) Parent #1 - pathogenic g.68007675C>T g.67095440C>T NM_024790.6:c.658C>T - CSPP1_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW129-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.658C>T r.(?) p.(Arg220*) Unknown - pathogenic g.68007675C>T - CSPP1(NM_001382391.1):c.631C>T (p.(Arg211*)) - CSPP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842G>A r.(?) p.(Arg281Gln) Unknown - VUS g.68007859G>A - CSPP1(NM_001363131.1):c.734G>A (p.R245Q), CSPP1(NM_024790.6):c.842G>A (p.R281Q) - CSPP1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6i c.950+1G>C r.spl p.? Paternal (confirmed) - likely pathogenic g.68007968G>C g.67095733G>C - - CSPP1_000015 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Tuz 2014 - ? ? - European - - - - 1 Marianne Vos (LOVD-team)
+/. - c.950+1G>C r.spl? p.? Parent #2 - pathogenic g.68007968G>C g.67095733G>C NM_024790.6:c.950+1G>C - CSPP1_000015 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW137-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
-?/. - c.991C>T r.(?) p.(His331Tyr) Unknown - likely benign g.68015312C>T - CSPP1(NM_001363131.1):c.883C>T (p.H295Y) - CSPP1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.992A>G r.(?) p.(His331Arg) Unknown - VUS g.68015313A>G g.67103078A>G CSPP1(NM_001291339.2):c.110A>G (p.H37R), CSPP1(NM_001363131.1):c.884A>G (p.H295R), CSPP1(NM_024790.6):c.992A>G (p.H331R) - CSPP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.992A>G r.(?) p.(His331Arg) Unknown - likely benign g.68015313A>G - CSPP1(NM_001291339.2):c.110A>G (p.H37R), CSPP1(NM_001363131.1):c.884A>G (p.H295R), CSPP1(NM_024790.6):c.992A>G (p.H331R) - CSPP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.992A>G r.(?) p.(His331Arg) Unknown - likely benign g.68015313A>G - CSPP1(NM_001291339.2):c.110A>G (p.H37R), CSPP1(NM_001363131.1):c.884A>G (p.H295R), CSPP1(NM_024790.6):c.992A>G (p.H331R) - CSPP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1132C>T r.(?) p.(Arg378*) Parent #1 - pathogenic g.68024218C>T g.67111983C>T - - CSPP1_000018 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Tuz 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents ? ? India Indian - - - - 2 Marianne Vos (LOVD-team)
+/. - c.1132C>T r.(?) p.(Arg378*) Parent #1 - pathogenic g.68024218C>T g.67111983C>T NM_024790.6:c.1132C>T - CSPP1_000018 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW143-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1132C>T r.(?) p.(Arg378*) Parent #1 - pathogenic g.68024218C>T g.67111983C>T NM_024790.6:c.1132C>T - CSPP1_000018 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW143-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Ter) Unknown - likely pathogenic g.68024299C>T g.67112064C>T CSPP1(NM_001363131.1):c.1105C>T (p.R369*) - CSPP1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1214G>A r.1214_1215ins1214+1_1214+10 p.Arg405Glnfs*2 Paternal (confirmed) - pathogenic g.68024300G>A g.67112065G>A - - CSPP1_000017 - PubMed: Tuz 2014 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - JBTS - PubMed: Tuz 2014 2-generation family, 2 affected, unaffected heterozygous carrier parents ? ? - European, north - - - - 2 Marianne Vos (LOVD-team)
-?/. - c.1214+5T>C r.spl? p.? Unknown - likely benign g.68024305T>C g.67112070T>C CSPP1(NM_001291339.1):c.332+5T>C - CSPP1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245G>A r.(?) p.(Ala415=) Unknown - likely benign g.68026070G>A - CSPP1(NM_024790.6):c.1245G>A (p.A415=) - CSPP1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1272+476T>C r.(=) p.(=) Unknown - VUS g.68026573T>C - CSPP1(NM_001382391.1):c.1255T>C (p.(Leu419=)) - CSPP1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1273-7A>T r.(=) p.(=) Unknown - likely benign g.68028142A>T g.67115907A>T CSPP1(NM_024790.6):c.1273-7A>T (p.(=)) - CSPP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302A>C r.(?) p.(Ala434=) Unknown - likely benign g.68028178A>C - CSPP1(NM_024790.6):c.1302A>C (p.A434=) - CSPP1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332T>C r.(?) p.(Pro444=) Unknown - likely benign g.68028208T>C - CSPP1(NM_024790.6):c.1332T>C (p.P444=) - CSPP1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1376C>G r.(?) p.(Ser459Cys) Unknown - benign g.68028252C>G g.67116017C>G CSPP1(NM_001291339.1):c.494C>G (p.S165C) - CSPP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1482-3C>T r.spl? p.? Unknown - VUS g.68030480C>T - CSPP1(NM_001382391.1):c.1497-3C>T - CSPP1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1482-2A>C r.spl? p.? Unknown - pathogenic g.68030481A>C g.67118246A>C CSPP1(NM_001291339.1):c.600-2A>C - CSPP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500A>G r.(?) p.(Pro500=) Unknown - likely benign g.68030501A>G - CSPP1(NM_001382391.1):c.1515A>G (p.P505=) - CSPP1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1541C>T r.(?) p.(Pro514Leu) Unknown - VUS g.68030542C>T g.67118307C>T C1541T - CSPP1_000076 - PubMed: Katagiri 2014 - rs200535417 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#010 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.1603+8A>G r.(=) p.(=) Unknown - likely benign g.68030612A>G - CSPP1(NM_001382391.1):c.1618+8A>G - CSPP1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1603+11T>C r.(=) p.(=) Unknown - benign g.68030615T>C g.67118380T>C CSPP1(NM_001291339.2):c.721+11T>C - CSPP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1604-9T>C r.(=) p.(=) Unknown - likely benign g.68030969T>C - CSPP1(NM_024790.6):c.1604-9T>C - CSPP1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1628A>C r.(?) p.(Gln543Pro) Unknown - VUS g.68031002A>C g.67118767A>C CSPP1(NM_001291339.1):c.746A>C (p.Q249P) - CSPP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1660C>A r.(?) p.(His554Asn) Unknown - VUS g.68031034C>A - CSPP1(NM_001363131.1):c.1594C>A (p.H532N) - CSPP1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1669G>A r.(?) p.(Ala557Thr) Unknown - likely benign g.68031043G>A g.67118808G>A CSPP1(NM_001291339.2):c.787G>A (p.A263T) - CSPP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1678G>A r.(?) p.(Val560Ile) Unknown - VUS g.68031052G>A g.67118817G>A CSPP1(NM_001291339.2):c.796G>A (p.V266I), CSPP1(NM_001363131.1):c.1612G>A (p.V538I), CSPP1(NM_024790.6):c.1678G>A (p.V560I) - CSPP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1678G>A r.(?) p.(Val560Ile) Unknown - VUS g.68031052G>A - CSPP1(NM_001291339.2):c.796G>A (p.V266I), CSPP1(NM_001363131.1):c.1612G>A (p.V538I), CSPP1(NM_024790.6):c.1678G>A (p.V560I) - CSPP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1682+1G>T r.spl? p.? Parent #1 - pathogenic g.68031057G>T g.67118822G>T NM_024790.6:c.1682+1G>T - CSPP1_000075 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW290-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
?/. - c.1783C>G r.(?) p.(Gln595Glu) Unknown - VUS g.68044286C>G g.67132051C>G CSPP1(NM_001363131.2):c.1717C>G (p.Q573E) - CSPP1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1835_1845del r.(?) p.(Arg612Thrfs*2) Unknown - likely pathogenic g.68049713_68049723del g.67137478_67137488del c.1835_1845del; p.R612Tfs*2 - CSPP1_000078 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 387 PubMed: Brooks 2018 family 73 F - United States - - - - - 1 LOVD
?/. - c.1930C>T r.(?) p.(Pro644Ser) Unknown - VUS g.68049808C>T g.67137573C>T CSPP1(NM_001291339.2):c.1048C>T (p.P350S) - CSPP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960+5G>A r.spl? p.? Unknown - VUS g.68049843G>A g.67137608G>A CSPP1(NM_001291339.2):c.1078+5G>A - CSPP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1962T>C r.(?) p.(Thr654=) Unknown - likely benign g.68062019T>C g.67149784T>C CSPP1(NM_024790.6):c.1962T>C (p.T654=) - CSPP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1962T>C r.(?) p.(Thr654=) Unknown - benign g.68062019T>C g.67149784T>C CSPP1(NM_024790.6):c.1962T>C (p.T654=) - CSPP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1962T>C r.(?) p.(Thr654=) Unknown - likely benign g.68062019T>C - CSPP1(NM_024790.6):c.1962T>C (p.T654=) - CSPP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1972A>G r.(?) p.(Arg658Gly) Unknown - benign g.68062029A>G g.67149794A>G CSPP1(NM_001363131.1):c.1906A>G (p.R636G), CSPP1(NM_024790.6):c.1972A>G (p.R658G) - CSPP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1972A>G r.(?) p.(Arg658Gly) Unknown - VUS g.68062029A>G - CSPP1(NM_001363131.1):c.1906A>G (p.R636G), CSPP1(NM_024790.6):c.1972A>G (p.R658G) - CSPP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2045T>C r.(?) p.(Val682Ala) Unknown - VUS g.68062102T>C - CSPP1(NM_024790.6):c.2045T>C (p.V682A) - CSPP1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2107A>G r.(?) p.(Ser703Gly) Unknown - likely benign g.68062164A>G - CSPP1(NM_024790.6):c.2107A>G (p.S703G) - CSPP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+16_2113+17insCTGTAA r.(=) p.(=) Unknown - benign g.68062186_68062187insCTGTAA g.67149951_67149952insCTGTAA CSPP1(NM_001291339.2):c.1079-4073_1079-4072insCTGTAA - CSPP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+32_2113+36del r.(=) p.(=) Unknown - benign g.68062202_68062206del g.67149967_67149971del CSPP1(NM_001291339.2):c.1079-4057_1079-4053delTTTTT - CSPP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+33_2113+36del r.(=) p.(=) Unknown - benign g.68062203_68062206del g.67149968_67149971del CSPP1(NM_001291339.2):c.1079-4056_1079-4053delTTTT - CSPP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+34_2113+36del r.(=) p.(=) Unknown - benign g.68062204_68062206del g.67149969_67149971del CSPP1(NM_001291339.2):c.1079-4055_1079-4053delTTT, CSPP1(NM_024790.6):c.2113+34_2113+36delTTT - CSPP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+34_2113+36del r.(=) p.(=) Unknown - benign g.68062204_68062206del - CSPP1(NM_001291339.2):c.1079-4055_1079-4053delTTT, CSPP1(NM_024790.6):c.2113+34_2113+36delTTT - CSPP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+35_2113+36del r.(=) p.(=) Unknown - benign g.68062205_68062206del g.67149970_67149971del CSPP1(NM_001291339.2):c.1079-4054_1079-4053delTT, CSPP1(NM_024790.6):c.2113+35_2113+36delTT - CSPP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+35_2113+36del r.(=) p.(=) Unknown - benign g.68062205_68062206del - CSPP1(NM_001291339.2):c.1079-4054_1079-4053delTT, CSPP1(NM_024790.6):c.2113+35_2113+36delTT - CSPP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+36del r.(=) p.(=) Unknown - benign g.68062206del g.67149971del CSPP1(NM_001291339.2):c.1079-4053delT, CSPP1(NM_024790.6):c.2113+36delT - CSPP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2113+36del r.(=) p.(=) Unknown - benign g.68062206del - CSPP1(NM_001291339.2):c.1079-4053delT, CSPP1(NM_024790.6):c.2113+36delT - CSPP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2114-5T>C r.spl? p.? Unknown - benign g.68066254T>C g.67154019T>C CSPP1(NM_001291339.2):c.1079-5T>C - CSPP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2182C>T r.(?) p.(Gln728*) Unknown - likely pathogenic g.68066327C>T - CSPP1(NM_001363131.1):c.2116C>T (p.Q706*) - CSPP1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2226+1G>T r.spl? p.? Unknown - likely pathogenic g.68066372G>T - CSPP1(NM_001363131.1):c.2160+1G>T, CSPP1(NM_024790.6):c.2226+1G>T - CSPP1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2226+3G>A r.spl? p.? Unknown - likely benign g.68066374G>A - CSPP1(NM_001382391.1):c.2241+3G>A - CSPP1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2244_2245del r.(?) p.(Glu750Glyfs*30) Paternal (confirmed) - pathogenic g.68070699_68070700del g.67158464_67158465del 2244_2245delAA - CSPP1_000006 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS, SRTD1 - PubMed: Tuz 2014 - ? ? - European - - - - 1 Marianne Vos (LOVD-team)
+/. 18 c.2244_2245del r.(?) p.(Glu750Glyfs*30) Paternal (confirmed) - pathogenic g.68070699_68070700del g.67158464_67158465del - - CSPP1_000006 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS, SRTD1 - PubMed: Tuz 2014 - ? ? - European - - - - 1 Marianne Vos (LOVD-team)
+/. - c.2244_2245del r.(?) p.(Glu750Glyfs*30) Parent #1 - pathogenic g.68070699_68070700del g.67158464_67158465del - - CSPP1_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587777139 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2244_2245del r.(?) p.(Glu750Glyfs*30) Parent #1 - pathogenic g.68070699_68070700del g.67158464_67158465del NM_024790.6:c.2244_2245delAA - CSPP1_000006 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW097-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2244_2245del r.(?) p.(Glu750Glyfs*30) Parent #1 - pathogenic g.68070699_68070700del g.67158464_67158465del NM_024790.6:c.2244_2245delAA - CSPP1_000006 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW097-6 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.2244_2245del r.(?) p.(Gln750Glyfs*30) Unknown - likely pathogenic g.68070699_68070700del g.67158464_67158465del c.2244_2245del; p.Q750Gfs*30 - CSPP1_000006 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 466 PubMed: Brooks 2018 family 72 F - United States - - - - - 1 LOVD
+/. 17 c.2244_2245del r.(?) p.(Glu750Glyfs*30) Unknown - pathogenic g.68070699_68070700del - c.2244_2245del - CSPP1_000006 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 466 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
?/. - c.2244_2245del r.(?) p.(Glu750Glyfs*30) Unknown - VUS g.68070699_68070700del - CSPP1(NM_024790.6):c.2244_2245delAA (p.E750Gfs*30) - CSPP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2244_2247del r.(?) p.(Glu750Lysfs*7) Both (homozygous) - pathogenic g.68070699_68070702del g.67158464_67158467del 2244_2247delAAGA - CSPP1_000020 - PubMed: Shaheen 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Shaheen 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia Saudi <00y00m00d - - - 1 Marianne Vos (LOVD-team)
+/. 18 c.2244_2247del r.(?) p.(Glu750Lysfs*7) Both (homozygous) - pathogenic g.68070699_68070702del g.67158464_67158467del 2244_2247delAAGA - CSPP1_000020 - PubMed: Shaheen 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Shaheen 2014 - F yes Saudi Arabia Arab <00y00m00d - - - 1 Marianne Vos (LOVD-team)
+/. - c.2244_2247del r.(?) p.(Glu750Lysfs*7) Both (homozygous) ACMG pathogenic g.68070699_68070702del g.67158464_67158467del - - CSPP1_000020 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - JBTS21 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 18 c.2260C>T r.(?) p.(Arg754*) Paternal (confirmed) - pathogenic g.68070715C>T g.67158480C>T - - CSPP1_000011 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS - PubMed: Tuz 2014 - ? ? China Chinese - - - - 1 Marianne Vos (LOVD-team)
+/. - c.2260C>T r.(?) p.(Arg754*) Parent #2 - pathogenic g.68070715C>T g.67158480C>T NM_024790.6:c.2260C>T - CSPP1_000011 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW128-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 18 c.2280del r.(?) p.(Glu761Lysfs*35) Maternal (confirmed) - pathogenic g.68070735del g.67158500del - - CSPP1_000007 - PubMed: Tuz 2014 - - Germline yes - - - - DNA SEQ - - JBTS, SRTD1 - PubMed: Tuz 2014 - ? ? - European - - - - 1 Marianne Vos (LOVD-team)
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