Full data view for gene PRPF3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004698.2 transcript reference sequence.

121 entries on 2 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.-49+2T>C r.spl p.(?) Unknown ACMG likely pathogenic g.150294043T>C g.150321594T>C PRPF3 c.[-49+2T>C];[-49+2=], V1: c.-49+2T>C, - PRPF3_000050 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F257 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.-49+2T>C r.spl p.(?) Unknown ACMG likely pathogenic g.150294043T>C g.150321594T>C PRPF3 c.[-49+2T>C];[-49+2=], V1: c.-49+2T>C, - PRPF3_000050 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F169 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.-49+2T>C r.spl p.? Parent #1 - likely pathogenic g.150294043T>C g.150321594T>C PRPF3 c.[-49+2T>C];[-49+2=]; p.? - PRPF3_000050 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0.000643 (genome); GnomAD_All: 0.000032 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F169 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.-49+2T>C r.spl p.? Parent #1 - likely pathogenic g.150294043T>C g.150321594T>C PRPF3 c.[-49+2T>C];[-49+2=]; p.? - PRPF3_000050 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0.000643 (genome); GnomAD_All: 0.000032 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F257 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-/. - c.-48-5_-48-3del r.spl? p.? Unknown - benign g.150297348_150297350del g.150324890_150324892del PRPF3(NM_004698.4):c.-48-5_-48-3delTTT - PRPF3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48-4_-48-3del r.spl? p.? Unknown - benign g.150297349_150297350del g.150324891_150324892del PRPF3(NM_004698.4):c.-48-4_-48-3delTT - PRPF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48-3del r.spl? p.? Unknown - benign g.150297350del g.150324892del PRPF3(NM_004698.4):c.-48-3delT - PRPF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48-2del r.spl? p.? Unknown - likely benign g.150297351del g.150324893del PRPF3(NM_004698.3):c.-48-2delA - PRPF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.-48-2dup r.spl? p.(?) Unknown - likely pathogenic g.150297351dup - c.-48-2dup - PRPF3_000059 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. 11 c.? r.(?) p.? Unknown - NA g.150316677A>C - c.1466A>C,Ala489Asp - PRPF3_000040 - PubMed: Gamundi 2008 - - In vitro (cloned) - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
-?/. - c.? r.(?) p.? Unknown - likely benign (dominant) g.? - g.150325383A>G - PRPF3_000040 - PubMed: Anasagasti-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
-?/. - c.? r.(?) p.? Unknown - likely benign (dominant) g.? - g.150325383A>G - PRPF3_000040 - PubMed: Anasagasti-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
-?/. - c.? r.(?) p.? Unknown - likely benign (dominant) g.? - g.150325252->T - PRPF3_000040 - PubMed: Anasagasti-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
+?/. 4 c.? r.(?) p.? Unknown - likely pathogenic g.? - HPRP3: Thr494Met - NPHS2_000000 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-005 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
?/. - c.86C>T r.(?) p.(Thr29Met) Unknown - VUS g.150297486C>T g.150325028C>T - - PRPF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146-18C>T r.(=) p.(=) Unknown - VUS g.150298191C>T g.150325733C>T PRPF3(NM_001350529.1):c.-356-18C>T - PRPF3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.673G>A r.(?) p.(Gly225Ser) Unknown - VUS g.150305615G>A - - - PRPF3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.729-3C>T r.spl? p.? Unknown - VUS g.150307403C>T g.150334932C>T - - PRPF3_000039 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - retinal disease 32 PubMed: Wang 2014 - F ? United States - - - - - 1 Muhammad Ajmal
-?/. - c.780G>A r.(?) p.(Glu260=) Unknown - likely benign g.150307457G>A g.150334986G>A PRPF3(NM_001350529.1):c.375G>A (p.E125=) - PRPF3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830G>A r.(?) p.(Arg277His) Unknown ACMG VUS g.150307507G>A g.150335036G>A PRPF3:NM_004698 c.G830A, p.R277H - PRPF3_000046 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-106 PubMed: Rodriguez-Munoz 2020 family fRPN-39, proband M - Spain - - - - - 1 LOVD
-?/. - c.957T>C r.(?) p.(Pro319=) Unknown - likely benign g.150307634T>C g.150335163T>C PRPF3(NM_001350529.1):c.552T>C (p.P184=) - PRPF3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.976A>G r.(?) p.(Thr326Ala) Unknown - likely pathogenic g.150307653A>G g.150335182A>G c.976A>G , p.(Thr326Ala) - PRPF3_000044 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13683 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.1007A>G r.(?) p.(Glu336Gly) Unknown - likely pathogenic g.150307684A>G g.150335213A>G PRPF3 c.1007A>G, p.E336G - PRPF3_000047 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 6 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
-?/. - c.1024T>C r.(?) p.(Leu342=) Unknown - likely benign g.150307701T>C g.150335230T>C PRPF3(NM_004698.3):c.1024T>C (p.L342=) - PRPF3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1101G>A r.(?) p.(Ser367=) Unknown - benign g.150310701G>A g.150338225G>A PRPF3(NM_004698.4):c.1101G>A (p.S367=) - PRPF3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112C>T r.(?) p.(Ala371Val) Unknown - VUS g.150310712C>T g.150338236C>T PRPF3(NM_004698.3):c.1112C>T (p.A371V) - PRPF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1195T>A r.(?) p.(Phe399Ile) Unknown - VUS g.150310795T>A g.150338319T>A PRPF3(NM_004698.3):c.1195T>A (p.F399I) - PRPF3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283-60_1283-57del r.spl p.? Parent #1 - pathogenic g.150315739_150315742del g.150343263_150343266del 1283-60_1283-57delATAT - PRPF3_000036 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 264 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. - c.1283-2A>G r.spl? p.? Unknown - pathogenic g.150315783A>G g.150343307A>G - - PRPF3_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.1283-2A>G r.spl p.(?) Parent #1 - likely pathogenic g.150315783A>G g.150343307A>G PRPF3, variant 1: c.1283-2A>G/p.? - PRPF3_000021 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1257 PubMed: Weisschuh 2020 Filing key number: 1049, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1285G>T r.(?) p.(Asp429Tyr) Unknown - likely pathogenic g.150315787G>T g.150343311G>T PRPF3;NM_004698.2;c.[1285G>T];[1285=];p.[(Asp429Tyr)];[(Asp429=)] - PRPF3_000045 heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 105 genes panel retinal disease 67 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1334A>G r.(?) p.(Gln445Arg) Unknown ACMG VUS g.150315836A>G g.150343360A>G - - PRPF3_000062 ACMG PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-341 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 10 c.1345C>G r.(?) p.(Arg449Gly) Parent #1 - pathogenic g.150315847C>G - c.1345C > G (p.R449G) - PRPF3_000055 0/200 unrelated ethnically matched healthy controls PubMed: Zhong 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease Family 020001 PubMed: Zhong 2016 - - - China Chinese - - - - 7 LOVD
?/. - c.1407G>A r.(?) p.(Met469Ile) Unknown - VUS g.150315909G>A g.150343433G>A - - PRPF3_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs587594838 Germline - 1/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.1409C>T r.(?) p.(Pro470Leu) Unknown ACMG VUS g.150315911C>T g.150343435C>T - - PRPF3_000063 ACMG PP3, PM2, PP2 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? SRP-1300 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.1426G>A r.(?) p.(Val476Met) Unknown - VUS g.150315928G>A g.150343452G>A PRPF3 c.1426G>A, p.Val476Met - PRPF3_000048 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2918_004503 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 10i c.1426+1G>A r.spl p.? Unknown ACMG likely pathogenic g.150315929G>A g.150343453G>A PRPF3 c.1426 + 1G > A, p.? - PRPF3_000052 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 9982_I:2 PubMed: Wang 2022 family 9982, individual I:2; 2-generation family, 2 affected F - China Chinese - - - - 1 LOVD
+?/. 10i c.1426+1G>A r.spl p.? Maternal (confirmed) ACMG likely pathogenic g.150315929G>A g.150343453G>A PRPF3 c.1426 + 1G > A, p.? - PRPF3_000052 heterozygous PubMed: Wang 2022 - - Germline yes - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 9982_II:1 PubMed: Wang 2022 family 9982, individual II:1; 2-generation family, 2 affected F - China Chinese - - - - 1 LOVD
-?/. - c.1427-18G>T r.(=) p.(=) Unknown - likely benign g.150316620G>T - PRPF3(NM_001350529.1):c.1022-18G>T - PRPF3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1435T>A r.(?) p.(Ser479Thr) Unknown ACMG likely pathogenic g.150316646T>A g.150344170T>A PRPF3 c.1435 T > A, p.(S479T) - PRPF3_000053 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 21954_II:2 PubMed: Wang 2022 family 21954, individual II:2; parents healthy, untested M - China Chinese - - - - 1 LOVD
-?/. - c.1464A>G r.(?) p.(Glu488=) Unknown - likely benign g.150316675A>G - PRPF3(NM_001350529.1):c.1059A>G (p.E353=) - PRPF3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477C>G r.(?) p.(Pro493Ala) Unknown - VUS g.150316688C>G g.150344212C>G - - PRPF3_000023 - 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
+/. 11 c.1477C>T r.(?) p.(Pro493Ser) Parent #1 - pathogenic g.150316688C>T - 1477C>T - PRPF3_000034 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
?/. 11 c.1477C>T r.(?) p.(Pro493Ser) Both (homozygous) - NA g.150316688C>T - p.P493S - PRPF3_000034 - PubMed: Tanackovic 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1477C>T r.(?) p.(Pro493Ser) Unknown ACMG pathogenic g.150316688C>T g.150344212C>T PRPF3:NM_004698 c.C1477T, p.P493S - PRPF3_000034 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-309 PubMed: Rodriguez-Munoz 2020 family fRPN-147, proband F - Spain - - - - - 1 LOVD
+/. - c.1477C>T r.(?) p.(Pro493Ser) Unknown ACMG pathogenic g.150316688C>T g.150344212C>T c.1477C>T; p.(Pro493Ser) - PRPF3_000034 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-310 PubMed: Rodriguez-Munoz 2020 family fRPN-147, family member F - Spain - - - - - 1 LOVD
+?/. 11 c.1477C>T r.(?) p.(Pro493Ser) Unknown - likely pathogenic g.150316688C>T - c.1477C>T - PRPF3_000034 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+/. 11 c.1477C>T r.(?) p.(Pro493Ser) Unknown - pathogenic (dominant) g.150316688C>T - c.1477C>T - PRPF3_000034 - PubMed: Colombo-2020 - rs121434242 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 11 c.1477C>T r.(?) p.(Pro493Ser) Unknown - pathogenic (dominant) g.150316688C>T - c.1477C>T - PRPF3_000034 - PubMed: Colombo-2020 - rs121434242 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.1477C>T r.(?) p.(Pro493Ser) Unknown - likely pathogenic g.150316688C>T - PRPF3(NM_001350529.1):c.1072C>T (p.P358S) - PRPF3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1477C>T r.(?) p.(Pro493Ser) Unknown ACMG pathogenic g.150316688C>T - - - PRPF3_000034 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1426645 rs121434242 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3561418 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. 11 c.1478C>T r.(?) p.(Pro493Leu) Unknown - pathogenic g.150316689C>T - HPRP3:Pro493Ser (1478C>T) - PRPF3_000056 - PubMed: Chakarova 2002 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Chakarova 2002 - - - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 11 c.1478C>T r.(?) p.(Pro493Leu) Unknown - pathogenic g.150316689C>T - HPRP3:Pro493Ser (1478C>T) - PRPF3_000056 - PubMed: Chakarova 2002 - - Germline - - - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Chakarova 2002 - - - - - - - - - 1 LOVD
+/. 11 c.1478C>T r.(?) p.(Pro493Leu) Unknown - pathogenic g.150316689C>T - HPRP3:Pro493Ser (1478C>T) - PRPF3_000056 - PubMed: Chakarova 2002 - - Germline - - - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Chakarova 2002 - - - - - - - - - 1 LOVD
+?/. - c.1480A>G r.(?) p.(Thr494Ala) Parent #1 ACMG likely pathogenic (dominant) g.150316691A>G g.150344215A>G - - PRPF3_000035 - PubMed: Roberts 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP391 PubMed: Roberts 2016 family, see paper - - South Africa Tswana - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (inferred) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing BCD III:9 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (inferred) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD IV:1 PubMed: Meng 2017 - F - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (inferred) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD IV:10 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (confirmed) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD IV:14 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (confirmed) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD IV:20 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (inferred) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD IV:6 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Paternal (confirmed) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD V:12 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Maternal (confirmed) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD V:3 PubMed: Meng 2017 - F - - Chinese - - - - 1 LOVD
+?/. 11 c.1481C>G r.(?) p.(Thr494Arg) Maternal (confirmed) - likely pathogenic g.150316692C>G g.150344216C>G PRPF3 c.1481C>G - PRPF3_000001 heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ blood targeted next generation sequencing BCD V:9 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown ACMG pathogenic g.150316692C>T - - - PRPF3_000019 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Parent #2 - pathogenic (dominant) g.150316692C>T - 1482C>T / T494M - PRPF3_000019 - PubMed: Martínez-Gimeno 2003 - - Germline yes - - - - DNA DGGE, SEQ Blood - retinal disease - PubMed: Martínez-Gimeno 2003 - - - - Spanish - - - - 1 Julia Lopez
+?/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 50 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 297 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Parent #1 - pathogenic g.150316692C>T - 1481C>T - PRPF3_000019 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. - c.1481C>T r.(?) p.(Thr494Met) Parent #1 - pathogenic (dominant) g.150316692C>T - - - PRPF3_000019 - PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease MOL0108 PubMed: Beryozkin 2015, PubMed: Sharon 2019 family - - Israel Jewish-Yemenite - - - - 1 Global Variome, with Curator vacancy
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic (dominant) g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP259 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.1481C>T r.(?) p.(Thr494Met) Parent #1 - pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Asper retinal disease Pat9 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Martin-Merida 2018 - - Germline ? 3/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Martin-Merida 2018 - - Germline ? 3/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Martin-Merida 2018 - - Germline ? 3/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
?/. 11 c.1481C>T r.(?) p.(Thr494Met) Both (homozygous) - NA g.150316692C>T - p.T494M - PRPF3_000019 - PubMed: Tanackovic 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1481C>T r.(?) p.(Thr494Met) Both (homozygous) - NA g.150316692C>T - p.T494M - PRPF3_000019 - PubMed: Tanackovic 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic g.150316692C>T - c.1481C>T - PRPF3_000019 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 - - - - - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T - c.1481C>T - PRPF3_000019 - PubMed: Kim-2012 - - Germline yes 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - F - China - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T - c.1481C>T - PRPF3_000019 - PubMed: Kim-2012 - - Germline yes 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - F - China - - - - - 1 LOVD
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C>T, p.Thr494Met - PRPF3_000019 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 099-025 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1481C>T r.(?) p.(Thr494Met) Parent #1 - likely pathogenic g.150316692C>T g.150344216C>T PRPF3, variant 1: c.1481C>T/p.T494M - PRPF3_000019 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 788 PubMed: Weisschuh 2020 Filing key number: 307, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Paternal (inferred) ACMG pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C > T, p.(T494M) - PRPF3_000019 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 23188_II:2 PubMed: Wang 2022 family 23188, individual II:2; 2-generation family, 2 affected M - China Chinese - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Maternal (inferred) ACMG pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C > T, p.(T494M) - PRPF3_000019 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 4635_II:1 PubMed: Wang 2022 family 4635, individual II:1; 2-generation family, 2 affected M - China Chinese - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown ACMG pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C > T, p.(T494M) - PRPF3_000019 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 20827_II:1 PubMed: Wang 2022 family 20827, individual II:1; parents healthy, untested F - China Chinese - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - HPRP3:Thr494Met (1482C>T) - PRPF3_000057 - PubMed: Chakarova 2002 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Chakarova 2002 - - - United Kingdom (Great Britain) English - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - HPRP3:Thr494Met (1482C>T) - PRPF3_000057 - PubMed: Chakarova 2002 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Chakarova 2002 - - - - Danish - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - HPRP3:Thr494Met - PRPF3_000057 - PubMed: Wada 2004 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Wada 2004 - F - Japan Japanese - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - HPRP3:Thr494Met - PRPF3_000057 - PubMed: Wada 2004 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Wada 2004 - F - Japan Japanese - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - HPRP3:Thr494Met - PRPF3_000057 - PubMed: Wada 2004 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Wada 2004 - M - Japan Japanese - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease III.3 PubMed: Vaclavik 2010 - F - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease IV.3 PubMed: Vaclavik 2010 - M - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease IV.4 PubMed: Vaclavik 2010 - M - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease III.8 PubMed: Vaclavik 2010 - M - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease IV.6 PubMed: Vaclavik 2010 - F - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease III.9 PubMed: Vaclavik 2010 - F - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease IV.9 PubMed: Vaclavik 2010 - F - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease V.11 PubMed: Vaclavik 2010 - M - Switzerland Swiss - - - - 1 LOVD
+/. 11 c.1482C>T r.? p.? Unknown - pathogenic g.150316693C>T - T494M - PRPF3_000057 0/96 controls PubMed: Vaclavik 2010 - - Germline yes - - - - DNA SEQ - - retinal disease III.13 PubMed: Vaclavik 2010 - M - Switzerland Swiss - - - - 1 LOVD
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