Full data view for gene PRPF8

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006445.3 transcript reference sequence.

407 entries on 5 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     
-/. 1 c.-50G>A r.(=) p.(=) Unknown - benign g.1588112C>T - c.1-51G>A - PRPF8_000123 - PubMed: Bowne 2011 - - Germline - - - - - DNA SEQ, SEQ-NG-S Lymphoblast - retinal disease - PubMed: Bowne 2011 - - no - white - - - - 1 LOVD
+?/. 41i c.? r.(?) p.? Parent #1 - likely pathogenic g.1554608C>T - IVS41-4G>A - PRPF8_000102 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - p.PRPF8-E2331X - MYH2_000008 - PubMed: Schorderet-2013 - - Germline yes - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
?/. - c.8G>C r.(?) p.(Gly3Ala) Unknown - VUS g.1587858C>G - PRPF8(NM_006445.4):c.8G>C (p.G3A) - PRPF8_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37C>G r.(?) p.(Pro13Ala) Unknown - VUS g.1587829G>C g.1684535G>C PRPF8 c.37C>G, p.Pro13Ala - PRPF8_000152 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP17 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. - c.37C>G r.(?) p.(Pro13Ala) Unknown ACMG VUS g.1587829G>C g.1684535G>C - - PRPF8_000152 ACMG PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-427 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.38C>T r.(?) p.(Pro13Leu) Unknown - benign g.1587828G>A g.1684534G>A - - PRPF8_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38C>T r.(?) p.(Pro13Leu) Maternal (confirmed) - pathogenic g.1587828G>A g.1684534G>A PRPF8 c.38C>T, p.Pro13Leu - PRPF8_000069 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease B_II:2 PubMed: Micheal 2018 family B, proband F - Pakistan Pakistani - - - - 1 LOVD
+/. - c.38C>T r.(?) p.(Pro13Leu) Unknown - pathogenic g.1587828G>A g.1684534G>A PRPF8 c.38C>T, p.Pro13Leu - PRPF8_000069 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease B_I:2 PubMed: Micheal 2018 family B, proband's mother F - Pakistan Pakistani - - - - 1 LOVD
+/. - c.38C>T r.(?) p.(Pro13Leu) Maternal (confirmed) - pathogenic g.1587828G>A g.1684534G>A PRPF8 c.38C>T, p.Pro13Leu - PRPF8_000069 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease B_II:3 PubMed: Micheal 2018 family B, proband's brother 2 M - Pakistan Pakistani - - - - 1 LOVD
+/. - c.38C>T r.(?) p.(Pro13Leu) Maternal (confirmed) - pathogenic g.1587828G>A g.1684534G>A PRPF8 c.38C>T, p.Pro13Leu - PRPF8_000069 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease B_II:4 PubMed: Micheal 2018 family B, proband's sister 1 F - Pakistan Pakistani - - - - 1 LOVD
+/. - c.38C>T r.(?) p.(Pro13Leu) Maternal (confirmed) - pathogenic g.1587828G>A g.1684534G>A PRPF8 c.38C>T, p.Pro13Leu - PRPF8_000069 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease B_II:5 PubMed: Micheal 2018 family B, proband's brother 3 M - Pakistan Pakistani - - - - 1 LOVD
+/. - c.38C>T r.(?) p.(Pro13Leu) Maternal (confirmed) - pathogenic g.1587828G>A g.1684534G>A PRPF8 c.38C>T, p.Pro13Leu - PRPF8_000069 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease B_II:6 PubMed: Micheal 2018 family B, proband's sister 2 F - Pakistan Pakistani - - - - 1 LOVD
?/. - c.68A>T r.(?) p.(Asp23Val) Unknown - VUS g.1587798T>A g.1684504T>A - - PRPF8_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.74T>C r.(?) p.(Met25Thr) Unknown - pathogenic g.1587792A>G g.1684498A>G PRPF8 c.74T>C, p.Met25Thr - PRPF8_000166 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease C_III:1 PubMed: Micheal 2018 family C, proband F - Pakistan Pakistani - - - - 1 LOVD
+/. - c.74T>C r.(?) p.(Met25Thr) Unknown - pathogenic g.1587792A>G g.1684498A>G PRPF8 c.74T>C, p.Met25Thr - PRPF8_000166 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease C_III:2 PubMed: Micheal 2018 family C, proband's cousin F - Pakistan Pakistani - - - - 1 LOVD
-/. - c.101-8C>T r.(=) p.(=) Unknown - benign g.1587003G>A g.1683709G>A PRPF8(NM_006445.4):c.101-8C>T - PRPF8_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.101-3C>T r.spl? p.? Unknown - benign g.1586998G>A g.1683704G>A - - PRPF8_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs75670228 Germline - 129/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 129 Yoshito Koyanagi
-/. - c.101-3C>T r.spl? p.? Both (homozygous) - benign g.1586998G>A g.1683704G>A - - PRPF8_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs75670228 Germline - 7/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 7 Yoshito Koyanagi
?/. - c.155G>T r.(?) p.(Gly52Val) Unknown - VUS g.1586941C>A g.1683647C>A PRPF8(NM_006445.4):c.155G>T (p.G52V) - PRPF8_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(Val99=) Unknown - likely benign g.1585560G>A - PRPF8(NM_006445.4):c.297C>T (p.V99=) - PRPF8_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>T r.(?) p.(=) Unknown - likely benign g.1585551G>A - PRPF8(NM_006445.4):c.306C>T (p.L102=) - PRPF8_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434+3G>A r.spl p.(?) Unknown ACMG VUS g.1585420C>T g.1682126C>T PRPF8:NM_006445 c.434+3G>A, p.? - PRPF8_000134 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-461 PubMed: Rodriguez-Munoz 2020 family fRPN-AP, proband F - Spain - - - - - 1 LOVD
?/. - c.455G>C r.(?) p.(Arg152Pro) Unknown - VUS g.1585312C>G g.1682018C>G - - PRPF8_000116 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG-I - - retinal disease - PubMed: Xu 2014 - M yes China Chinese - - - - 1 Rob W.J. Collin
?/. - c.583C>G r.(?) p.(Leu195Val) Unknown - VUS g.1585184G>C - - - PRPF8_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Asp200=) Unknown - likely benign g.1585167G>A - PRPF8(NM_006445.3):c.600C>T (p.D200=) - PRPF8_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603C>T r.(?) p.(Ala201=) Unknown - likely benign g.1585164G>A - PRPF8(NM_006445.4):c.603C>T (p.A201=) - PRPF8_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625G>A r.(?) p.(Asp209Asn) Unknown - VUS g.1585142C>T g.1681848C>T - - PRPF8_000044 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.653+9T>G r.(=) p.(=) Unknown - likely benign g.1585105A>C - PRPF8(NM_006445.3):c.653+9T>G - PRPF8_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654-5C>T r.spl? p.? Unknown - VUS g.1584989G>A g.1681695G>A - - PRPF8_000043 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs143954665 Germline - 8/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
-/. - c.690C>T r.(?) p.(Phe230=) Unknown - benign g.1584948G>A g.1681654G>A PRPF8(NM_006445.4):c.690C>T (p.F230=) - PRPF8_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.703A>G r.(?) p.(Met235Val) Unknown - VUS g.1584935T>C g.1681641T>C - - PRPF8_000042 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.708G>A r.(?) p.(Ser236=) Unknown - VUS g.1584930C>T g.1681636C>T - - PRPF8_000096 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat9 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+?/. - c.850C>T r.(?) p.(Arg284*) Unknown - likely pathogenic g.1584788G>A - - - PRPF8_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867-5C>T r.spl? p.? Unknown - VUS g.1584353G>A g.1681059G>A - - PRPF8_000041 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs538689803 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.870T>C r.(?) p.(Asp290=) Unknown - likely benign g.1584345A>G g.1681051A>G PRPF8(NM_006445.3):c.870T>C (p.D290=) - PRPF8_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.890A>G r.(?) p.(Asn297Ser) Unknown - VUS g.1584325T>C - PRPF8(NM_006445.4):c.890A>G (p.(Asn297Ser)) - PRPF8_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.957G>T r.(?) p.(Leu319Phe) Unknown - VUS g.1584258C>A g.1680964C>A - - PRPF8_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.965A>G r.(?) p.(Asn322Ser) Unknown - VUS g.1584250T>C g.1680956T>C - - PRPF8_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs953338 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.965A>G r.(?) p.(Asn322Ser) Unknown - VUS g.1584250T>C g.1680956T>C PRPF8(NM_006445.4):c.965A>G (p.N322S) - PRPF8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971C>T r.(?) p.(Pro324Leu) Unknown - VUS g.1584244G>A g.1680950G>A - - PRPF8_000038 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.992+18C>A r.(=) p.(=) Unknown - benign g.1584205G>T g.1680911G>T PRPF8(NM_006445.4):c.992+18C>A - PRPF8_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.993-20G>A r.(=) p.(=) Unknown - VUS g.1584145C>T g.1680851C>T PRPF8(NM_006445.4):c.993-20G>A - PRPF8_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1005C>T r.(?) p.(Pro335=) Unknown - benign g.1584113G>A g.1680819G>A PRPF8(NM_006445.4):c.1005C>T (p.P335=) - PRPF8_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1121A>C r.(?) p.(Asp374Ala) Unknown - VUS g.1583071T>G - PRPF8(NM_006445.4):c.1121A>C (p.(Asp374Ala)) - PRPF8_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142C>T r.(?) p.(Pro381Leu) Unknown - VUS g.1583050G>A g.1679756G>A - - PRPF8_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs745441870 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.1289+13C>T r.(=) p.(=) Unknown - benign g.1582890G>A g.1679596G>A PRPF8(NM_006445.4):c.1289+13C>T - PRPF8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1290-18G>C r.(=) p.(=) Unknown - benign g.1582722C>G g.1679428C>G PRPF8(NM_006445.4):c.1290-18G>C - PRPF8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1424C>T r.(?) p.(Ser475Phe) Unknown - VUS g.1582486G>A g.1679192G>A - - PRPF8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1492C>T r.(?) p.(Arg498Cys) Unknown ACMG VUS g.1582418G>A g.1679124G>A PRPF8 c.C1492T, p.R498C - PRPF8_000147 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 49 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
-/. - c.1600-14dup r.(=) p.(=) Unknown - benign g.1582194dup g.1678900dup PRPF8(NM_006445.4):c.1600-14dupT - PRPF8_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1666C>T r.(?) p.(=) Unknown - likely benign g.1582109G>A - PRPF8(NM_006445.4):c.1666C>T (p.L556=) - PRPF8_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1719+4A>G r.spl? p.? Unknown - VUS g.1582052T>C - PRPF8(NM_006445.3):c.1719+4A>G - PRPF8_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1869G>C r.(?) p.(Lys623Asn) Unknown - likely benign g.1580974C>G - - - PRPF8_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1896C>T r.(?) p.(Ala632=) Unknown - benign g.1580947G>A g.1677653G>A PRPF8(NM_006445.3):c.1896C>T (p.A632=), PRPF8(NM_006445.4):c.1896C>T (p.A632=) - PRPF8_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1896C>T r.(?) p.(Ala632=) Unknown - likely benign g.1580947G>A - PRPF8(NM_006445.3):c.1896C>T (p.A632=), PRPF8(NM_006445.4):c.1896C>T (p.A632=) - PRPF8_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1898G>A r.(?) p.(Gly633Asp) Unknown ACMG VUS g.1580945C>T g.1677651C>T - - PRPF8_000187 ACMG PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-383 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1929C>T r.(?) p.(=) Unknown - likely benign g.1580914G>A - PRPF8(NM_006445.4):c.1929C>T (p.G643=) - PRPF8_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960A>C r.(?) p.(Asn654His) Unknown - VUS g.1580883T>G g.1677589T>G PRPF8(NM_006445.3):c.1960A>C (p.N654H) - PRPF8_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.2111A>C r.(?) p.(Asn704Thr) Unknown - VUS g.1580340T>G - c.2111A>C - PRPF8_000151 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
?/. - c.2181+6T>C r.(=) p.(=) Unknown - VUS g.1580264A>G - PRPF8(NM_006445.3):c.2181+6T>C - PRPF8_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2182-4T>C r.spl? p.? Unknown - benign g.1580009A>G g.1676715A>G PRPF8(NM_006445.4):c.2182-4T>C - PRPF8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2228T>C r.(?) p.(Val743Ala) Unknown ACMG VUS g.1579959A>G g.1676665A>G - - PRPF8_000186 ACMG PP3, PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHI-88 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.2298T>C r.(?) p.(=) Unknown - likely benign g.1579889A>G - PRPF8(NM_006445.4):c.2298T>C (p.T766=) - PRPF8_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2382C>T r.(?) p.(Tyr794=) Unknown - likely benign g.1579805G>A - PRPF8(NM_006445.3):c.2382C>T (p.Y794=) - PRPF8_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2601C>T r.(?) p.(=) Unknown - likely benign g.1579300G>A - PRPF8(NM_006445.4):c.2601C>T (p.I867=) - PRPF8_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2679G>A r.(?) p.(Glu893=) Unknown - likely benign g.1579222C>T - PRPF8(NM_006445.3):c.2679G>A (p.E893=) - PRPF8_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2832C>G r.(?) p.(Asp944Glu) Unknown - VUS g.1578954G>C - PRPF8(NM_006445.4):c.2832C>G (p.D944E) - PRPF8_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2863T>C r.(?) p.(Trp955Arg) Unknown - VUS g.1578923A>G - PRPF8(NM_006445.3):c.2863T>C (p.W955R) - PRPF8_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2894T>G r.(?) p.(Val965Gly) Unknown - pathogenic g.1578612A>C g.1675318A>C PRPF8 c.2894T>G, p.Val965Gly - PRPF8_000165 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease A_II:3 PubMed: Micheal 2018 family A, proband M - Netherlands Dutch - - - - 1 LOVD
+/. - c.2894T>G r.(?) p.(Val965Gly) Unknown - pathogenic g.1578612A>C g.1675318A>C PRPF8 c.2894T>G, p.Val965Gly - PRPF8_000165 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease A_II:4 PubMed: Micheal 2018 family A, proband's brother 2 M - Netherlands Dutch - - - - 1 LOVD
+/. - c.2894T>G r.(?) p.(Val965Gly) Unknown - pathogenic g.1578612A>C g.1675318A>C PRPF8 c.2894T>G, p.Val965Gly - PRPF8_000165 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease A_II:5 PubMed: Micheal 2018 family A, proband's brother 3 M - Netherlands Dutch - - - - 1 LOVD
+/. - c.2894T>G r.(?) p.(Val965Gly) Unknown - pathogenic g.1578612A>C g.1675318A>C PRPF8 c.2894T>G, p.Val965Gly - PRPF8_000165 heterozygous PubMed: Micheal 2018 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease A_II:7 PubMed: Micheal 2018 family A, proband's brother 4 M - Netherlands Dutch - - - - 1 LOVD
?/. - c.2939G>A r.(?) p.(Arg980His) Unknown - VUS g.1578567C>T - PRPF8(NM_006445.4):c.2939G>A (p.(Arg980His)) - PRPF8_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3017C>T r.(?) p.(Ala1006Val) Unknown - likely pathogenic g.1578489G>A - - - PRPF8_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3061-11T>G r.(=) p.(=) Parent #1 - likely benign g.1577985A>C g.1674691A>C - - PRPF8_000077 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11652160 Germline - 19/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
-/. - c.3084T>C r.(?) p.(Tyr1028=) Unknown - benign g.1577951A>G g.1674657A>G PRPF8(NM_006445.3):c.3084T>C (p.Y1028=), PRPF8(NM_006445.4):c.3084T>C (p.Y1028=) - PRPF8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3084T>C r.(?) p.(Tyr1028=) Unknown - likely benign g.1577951A>G - PRPF8(NM_006445.3):c.3084T>C (p.Y1028=), PRPF8(NM_006445.4):c.3084T>C (p.Y1028=) - PRPF8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3176G>T r.(?) p.(Ser1059Ile) Unknown - VUS g.1577859C>A - PRPF8(NM_006445.3):c.3176G>T (p.(Ser1059Ile)) - PRPF8_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3280C>T r.(?) p.(Arg1094Cys) Unknown - VUS g.1577755G>A g.1674461G>A - - PRPF8_000036 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.3394_3396del r.(?) p.(Lys1132del) Unknown ACMG likely pathogenic g.1577090_1577092del - - - PRPF8_000081 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.3419T>C r.(?) p.(Met1140Thr) Unknown - likely benign g.1577067A>G g.1673773A>G - - PRPF8_000115 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP1649 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - 2 LOVD
-?/. - c.3447-12C>T r.(=) p.(=) Unknown - likely benign g.1576873G>A - PRPF8(NM_006445.4):c.3447-12C>T - PRPF8_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3522C>T r.(?) p.(Phe1174=) Unknown - likely benign g.1576786G>A g.1673492G>A PRPF8(NM_006445.3):c.3522C>T (p.F1174=) - PRPF8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3523G>C r.(?) p.(Val1175Leu) Unknown - VUS g.1576785C>G g.1673491C>G - - PRPF8_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.3530T>C r.(?) p.(Val1177Ala) Unknown - VUS g.1576778A>G - PRPF8(NM_006445.3):c.3530T>C (p.(Val1177Ala)) - PRPF8_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3576C>T r.(?) p.(Phe1192=) Unknown - likely benign g.1576732G>A g.1673438G>A PRPF8(NM_006445.3):c.3576C>T (p.F1192=) - PRPF8_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3613G>A r.(?) p.(Glu1205Lys) Unknown - VUS g.1576695C>T g.1673401C>T - - PRPF8_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.3657+13C>T r.(=) p.(=) Unknown - likely benign g.1576638G>A - PRPF8(NM_006445.4):c.3657+13C>T - PRPF8_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3884T>C r.(?) p.(Ile1295Thr) Unknown - VUS g.1565338A>G g.1662044A>G - - PRPF8_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.3910_3914del r.(?) p.(Asn1304Glnfs*15) Unknown - VUS g.1565312_1565316del g.1662018_1662022del 3910_3914delAACTC - PRPF8_000108 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12002571 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
-?/. - c.4022+5A>T r.spl? p.? Unknown - likely benign g.1565195T>A - PRPF8(NM_006445.4):c.4022+5A>T - PRPF8_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4022+11G>A r.(=) p.(=) Unknown - likely benign g.1565189C>T - PRPF8(NM_006445.4):c.4022+11G>A - PRPF8_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4022+15A>G r.(=) p.(=) Unknown - likely benign g.1565185T>C g.1661891T>C PRPF8(NM_006445.4):c.4022+15A>G - PRPF8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4131C>T r.(?) p.(Ser1377=) Unknown - VUS g.1564976G>A g.1661682G>A - - PRPF8_000107 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12003878 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
-?/. - c.4131C>T r.(?) p.(=) Unknown - likely benign g.1564976G>A - PRPF8(NM_006445.4):c.4131C>T (p.(Ser1377=)) - PRPF8_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 26 c.4150C>T r.(?) p.(Arg1384Trp) Unknown ACMG pathogenic g.1564957G>A g.1661663G>A PRPF8 c.4150C>T, p.(R1384W) - PRPF8_000146 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 10215 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
?/. 27 c.4234T>C r.(?) p.(Trp1412Arg) Unknown - VUS g.1564669A>G - c.4234T>C - PRPF8_000125 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - - - - - - - - 1 LOVD
-?/. - c.4257C>T r.(?) p.(Ile1419=) Unknown - likely benign g.1564646G>A - PRPF8(NM_006445.4):c.4257C>T (p.I1419=) - PRPF8_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4339-20G>A r.(=) p.(=) Unknown - likely benign g.1564476C>T - PRPF8(NM_006445.4):c.4339-20G>A - PRPF8_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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