Full data view for gene PRPF6

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_012469.3 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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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.42C>T r.(?) p.(Pro14=) Unknown - likely benign g.62612640C>T g.63981287C>T PRPF6(NM_012469.4):c.42C>T (p.P14=) - PRPF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>T r.(?) p.(Gly20=) Unknown - benign g.62612658G>T g.63981305G>T PRPF6(NM_012469.4):c.60G>T (p.G20=) - PRPF6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61C>T r.(?) p.(Leu21=) Unknown - likely benign g.62612659C>T - PRPF6(NM_012469.4):c.61C>T (p.L21=) - PRPF6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71+6G>A r.(=) p.(=) Unknown - benign g.62612675G>A g.63981322G>A PRPF6(NM_012469.4):c.71+6G>A - PRPF6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71+7C>T r.(=) p.(=) Unknown - VUS g.62612676C>T g.63981323C>T - - PRPF6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.120A>G r.(?) p.(Ala40=) Unknown - benign g.62614448A>G g.63983095A>G PRPF6(NM_012469.3):c.120A>G (p.A40=) - PRPF6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.241-19C>T r.(=) p.(=) Unknown - benign g.62616241C>T g.63984888C>T PRPF6(NM_012469.4):c.241-19C>T - PRPF6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282C>T r.(?) p.(Tyr94=) Unknown - likely benign g.62616301C>T - PRPF6(NM_012469.4):c.282C>T (p.Y94=) - PRPF6_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.314A>G r.(?) p.(Tyr105Cys) Parent #1 - likely pathogenic (dominant) g.62616333A>G g.63984980A>G - - PRPF6_000055 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690302 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 3 c.314A>G r.(?) p.(Tyr105Cys) Unknown - likely pathogenic g.62616333A>G - c.314A>G - PRPF6_000055 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
-/. - c.393T>C r.(?) p.(Tyr131=) Unknown - benign g.62624793T>C g.63993440T>C PRPF6(NM_012469.4):c.393T>C (p.Y131=) - PRPF6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.496G>T r.(?) p.(Ala166Ser) Unknown - VUS g.62626326G>T g.63994973G>T G496T - PRPF6_000062 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#008 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 5 c.514C>G r.(?) p.(Arg172Gly) Unknown - likely pathogenic g.62626344C>G - c.514C>G - PRPF6_000076 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic g.62626344C>T g.63994991C>T - - PRPF6_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs369787039 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.514C>T r.(?) p.(Arg172Trp) Parent #1 - likely pathogenic g.62626344C>T g.63994991C>T - - PRPF6_000028 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W74-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+/. 5 c.514C>T r.(?) p.(Arg172Trp) Unknown ACMG pathogenic g.62626344C>T g.63994991C>T PRPF6 c.514C>T, p.(R172W) - PRPF6_000028 - PubMed: Xiao-2021 - - Unknown ? - - - - DNA SEQ-NG blood gene panel testing retinal disease 19479 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
+?/. 5 c.514C>T r.(?) p.(Arg172Trp) Unknown - likely pathogenic g.62626344C>T - c.514C>T - PRPF6_000028 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.538A>C r.(?) p.(Thr180Pro) Unknown - VUS g.62626368A>C g.63995015A>C - - PRPF6_000029 - 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.542C>T r.(?) p.(Pro181Leu) Unknown - likely pathogenic g.62626372C>T g.63995019C>T - - PRPF6_000058 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-081 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
?/. - c.550G>A r.(?) p.(Asp184Asn) Unknown - VUS g.62626380G>A g.63995027G>A PRPF6 c.550G>A, p.Asp184Asn - PRPF6_000068 Conflicting in silico model predictions, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI717_001428 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.550G>C r.(?) p.(Asp184His) Parent #1 - likely pathogenic g.62626380G>C g.63995027G>C - - PRPF6_000063 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6283 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.551A>G r.(?) p.(Asp184Gly) Parent #1 - likely pathogenic g.62626381A>G g.63995028A>G - - PRPF6_000061 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W44-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
-/. - c.558C>T r.(?) p.(Phe186=) Unknown - benign g.62626388C>T g.63995035C>T PRPF6(NM_012469.4):c.558C>T (p.F186=) - PRPF6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>C r.(?) p.(Val200Leu) Unknown - VUS g.62626428G>C g.63995075G>C PRPF6(NM_012469.3):c.598G>C (p.V200L) - PRPF6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614C>G r.(?) p.(Thr205Ser) Unknown - VUS g.62626444C>G g.63995091C>G - - PRPF6_000030 - 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.615+16A>T r.(=) p.(=) Unknown - benign g.62626461A>T g.63995108A>T PRPF6(NM_012469.4):c.615+16A>T - PRPF6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780C>T r.(?) p.(Asp260=) Unknown - likely benign g.62630406C>T g.63999053C>T PRPF6(NM_012469.3):c.780C>T (p.D260=), PRPF6(NM_012469.4):c.780C>T (p.D260=) - PRPF6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780C>T r.(?) p.(Asp260=) Unknown - likely benign g.62630406C>T - PRPF6(NM_012469.3):c.780C>T (p.D260=), PRPF6(NM_012469.4):c.780C>T (p.D260=) - PRPF6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.801C>T r.(?) p.(Val267=) Unknown - benign g.62630427C>T g.63999074C>T PRPF6(NM_012469.4):c.801C>T (p.V267=) - PRPF6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.846G>A r.(?) p.(Pro282=) Unknown - likely benign g.62630472G>A - PRPF6(NM_012469.3):c.846G>A (p.P282=) - PRPF6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.867-13C>T r.(=) p.(=) Unknown - likely benign g.62630943C>T - PRPF6(NM_012469.4):c.867-13C>T - PRPF6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.867-9C>T r.(=) p.(=) Unknown - benign g.62630947C>T g.63999594C>T PRPF6(NM_012469.4):c.867-9C>T - PRPF6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867-7C>G r.spl? p.? Unknown - VUS g.62630949C>G g.63999596C>G - - PRPF6_000064 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 41 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-/. - c.891C>T r.(?) p.(Leu297=) Unknown - benign g.62630980C>T g.63999627C>T PRPF6(NM_012469.4):c.891C>T (p.L297=) - PRPF6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008G>A r.(?) p.(Thr336=) Unknown - likely benign g.62631097G>A - PRPF6(NM_012469.3):c.1008G>A (p.T336=) - PRPF6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137C>T r.(?) p.(Ala379=) Unknown - likely benign g.62632543C>T g.64001190C>T PRPF6(NM_012469.3):c.1137C>T (p.A379=) - PRPF6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151C>T r.(?) p.(Thr384Met) Unknown - likely benign g.62632557C>T g.64001204C>T PRPF6(NM_012469.3):c.1151C>T (p.T384M) - PRPF6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156A>G r.(?) p.(Ile386Val) Unknown - VUS g.62632562A>G g.64001209A>G - - PRPF6_000060 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP058 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.1239G>C r.(?) p.(=) Unknown - likely benign g.62641605G>C - PRPF6(NM_012469.4):c.1239G>C (p.L413=) - PRPF6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1254T>C r.(?) p.(Asp418=) Unknown - benign g.62641620T>C g.64010267T>C PRPF6(NM_012469.4):c.1254T>C (p.D418=) - PRPF6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1300G>A r.(?) p.(Val434Met) Unknown - VUS g.62641666G>A - c.1300G>A - PRPF6_000069 - PubMed: Colombo-2020 - rs753357562 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
-?/. - c.1306-5C>T r.spl? p.? Unknown - likely benign g.62642633C>T - PRPF6(NM_012469.3):c.1306-5C>T - PRPF6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337A>G r.(?) p.(Tyr446Cys) Unknown - VUS g.62642669A>G g.64011316A>G - - PRPF6_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs776953711 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.1344T>C r.(?) p.(Asn448=) Unknown - likely benign g.62642676T>C g.64011323T>C PRPF6(NM_012469.3):c.1344T>C (p.N448=) - PRPF6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1369C>T r.(?) p.(Arg457Trp) Unknown - VUS g.62642701C>T g.64011348C>T - - PRPF6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1430A>G r.(?) p.(Asn477Ser) Parent #1 - likely pathogenic g.62642762A>G g.64011409A>G A1430G (Asn477Ser) - PRPF6_000001 not present in 2,100 controls PubMed: Velinov 2012, Journal: Velinov 2012 - - Germline yes - - - - DNA SEQ - - CLN4B 22235333-FamParry PubMed: Boehme 1971, PubMed: Velinov 2012, Journal: Velinov 2012 7-generation family, 22 affecteds (13F, 9M) F;M no United States - - - - - 22 Johan den Dunnen
-?/. - c.1449G>A r.(?) p.(Val483=) Unknown - likely benign g.62642781G>A g.64011428G>A PRPF6(NM_012469.3):c.1449G>A (p.V483=) - PRPF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1495G>A r.(?) p.(Val499Met) Unknown - likely pathogenic g.62642827G>A g.64011474G>A - - PRPF6_000059 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-068 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
?/. - c.1648-20C>T r.(=) p.(=) Unknown - VUS g.62654090C>T g.64022737C>T PRPF6(NM_012469.4):c.1648-20C>T - PRPF6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1648-9C>G r.(=) p.(=) Unknown - benign g.62654101C>G g.64022748C>G PRPF6(NM_012469.4):c.1648-9C>G - PRPF6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1696G>A r.(?) p.(Ala566Thr) Unknown - VUS g.62654158G>A - PRPF6(NM_012469.3):c.1696G>A (p.(Ala566Thr)) - PRPF6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737C>T r.(?) p.(Arg579=) Unknown - likely benign g.62654199C>T g.64022846C>T PRPF6(NM_012469.4):c.1737C>T (p.R579=) - PRPF6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1836C>T r.(?) p.(Leu612=) Unknown - likely benign g.62655974C>T g.64024621C>T PRPF6(NM_012469.3):c.1836C>T (p.L612=) - PRPF6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1993C>T r.(?) p.(Leu665=) Unknown - benign g.62657376C>T g.64026023C>T PRPF6(NM_012469.4):c.1993C>T (p.L665=) - PRPF6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2003C>T r.(?) p.(Ala668Val) Unknown - VUS g.62657386C>T - NM_012469:c.C2003T (A668V) - PRPF6_000079 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0719 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.2017C>T r.(?) p.(Pro673Ser) Unknown - VUS g.62657400C>T g.64026047C>T PRPF6(NM_012469.3):c.2017C>T (p.P673S) - PRPF6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2185C>T r.(?) p.(Arg729Trp) Maternal (inferred) - likely pathogenic g.62658491C>T g.64027138C>T PRPF6 - PRPF6_000073 heterozygous PubMed: Tanackovic 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 001-173, IV-1 PubMed: Tanackovic 2011 - M - - - - - - - 1 LOVD
+?/. - c.2185C>T r.(?) p.(Arg729Trp) Maternal (inferred) - likely pathogenic g.62658491C>T g.64027138C>T PRPF6 - PRPF6_000073 heterozygous PubMed: Tanackovic 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 218-479, IV:2 PubMed: Tanackovic 2011 - M - - - - - - - 1 LOVD
?/. - c.2200C>G r.(?) p.(Gln734Glu) Parent #1 ACMG VUS g.62658506C>G g.64027153C>G - - PRPF6_000080 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-221-1 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
?/. - c.2200C>G r.(?) p.(Gln734Glu) Parent #1 ACMG VUS g.62658506C>G g.64027153C>G - - PRPF6_000080 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-221-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.2201del r.(?) p.(Gln734Argfs*3) Parent #1 - likely pathogenic (dominant) g.62658507del g.64027154del 2201delA - PRPF6_000056 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680402 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 16 c.2201del r.(?) p.(Pro734Glnfs*19) Unknown - likely pathogenic g.62658507del - c.2201delA - PRPF6_000056 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.2252G>A r.(?) p.(Arg751Gln) Unknown - VUS g.62659002G>A g.64027649G>A - - PRPF6_000032 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs745862108 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.2328C>T r.(?) p.(Asn776=) Unknown - likely benign g.62659078C>T g.64027725C>T PRPF6(NM_012469.3):c.2328C>T (p.N776=), PRPF6(NM_012469.4):c.2328C>T (p.N776=) - PRPF6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2328C>T r.(?) p.(Asn776=) Unknown - likely benign g.62659078C>T - PRPF6(NM_012469.3):c.2328C>T (p.N776=), PRPF6(NM_012469.4):c.2328C>T (p.N776=) - PRPF6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2337G>C r.(?) p.(Leu779=) Unknown - likely benign g.62659087G>C g.64027734G>C PRPF6(NM_012469.4):c.2337G>C (p.L779=) - PRPF6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17i c.2339+1G>A r.(?) p.(?) Unknown - likely pathogenic g.62659090G>A g.64027737G>A - - PRPF6_000065 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - 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
-/. - c.2340-11T>C r.(=) p.(=) Unknown - benign g.62659820T>C g.64028467T>C PRPF6(NM_012469.4):c.2340-11T>C - PRPF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2407G>T r.(?) p.(Ala803Ser) Unknown - VUS g.62659898G>T - - - PRPF6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2431+8G>T r.(=) p.(=) Unknown - likely benign g.62659930G>T g.64028577G>T PRPF6(NM_012469.4):c.2431+8G>T - PRPF6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2431+9del r.(=) p.(=) Unknown - benign g.62659931del g.64028578del PRPF6(NM_012469.4):c.2431+9delG - PRPF6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2431+9del r.spl p.? Parent #2 - VUS g.62659931del g.64028578del c.2431+9delG - PRPF6_000018 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 41 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-/. - c.2431+15C>T r.(=) p.(=) Unknown - benign g.62659937C>T g.64028584C>T PRPF6(NM_012469.4):c.2431+15C>T - PRPF6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2431+15_2431+36dup r.(?) p.(?) Unknown - VUS g.62659937_62659958dup g.64028584_64028605dup PRPF6:NM_012469:exon18:c.2426_2431+16dup:p.N809fs - PRPF6_000067 error in annotation:c.2426_2431+16dup normalised to NM_012469.3:c.2431+15_2431+36dup, splicing change unknown; heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F25-II-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
-/. - c.2460C>T r.(?) p.(Leu820=) Unknown - benign g.62660758C>T - PRPF6(NM_012469.4):c.2460C>T (p.L820=) - PRPF6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2474A>G r.(?) p.(Gln825Arg) Unknown - VUS g.62660772A>G g.64029419A>G PRPF6(NM_012469.3):c.2474A>G (p.Q825R) - PRPF6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2491G>A r.(?) p.(Val831Met) Unknown - VUS g.62660789G>A g.64029436G>A - - PRPF6_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs749610328 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-/. - c.2546+15C>T r.(=) p.(=) Unknown - benign g.62660859C>T g.64029506C>T PRPF6(NM_012469.4):c.2546+15C>T - PRPF6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2563C>T r.(?) p.(Arg855Trp) Unknown - VUS g.62663287C>T - PRPF6(NM_012469.3):c.2563C>T (p.R855W) - PRPF6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2563C>T r.(?) p.(Arg855Trp) Parent #1 - likely pathogenic (dominant) g.62663287C>T g.64031934C>T - - PRPF6_000052 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690509 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 20 c.2563C>T r.(?) p.(Arg855Trp) Unknown - likely pathogenic g.62663287C>T - c.2563C>T - PRPF6_000052 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.2615C>T r.(?) p.(Ser872Leu) Unknown - VUS g.62663339C>T g.64031986C>T - - PRPF6_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs767793133 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.2616G>A r.(?) p.(Ser872=) Unknown - benign g.62663340G>A g.64031987G>A PRPF6(NM_012469.4):c.2616G>A (p.S872=) - PRPF6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2674-10G>T r.(=) p.(=) Unknown - benign g.62664184G>T g.64032831G>T PRPF6(NM_012469.4):c.2674-10G>T - PRPF6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2688G>T r.(?) p.(Glu896Asp) Unknown - VUS g.62664208G>T g.64032855G>T - - PRPF6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2698C>T r.(?) p.(Arg900Cys) Unknown - VUS g.62664218C>T g.64032865C>T PRPF6(NM_012469.4):c.2698C>T (p.R900C) - PRPF6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2699G>A r.(?) p.(Arg900His) Unknown ACMG VUS g.62664219G>A g.64032866G>A PRPF6 c.[2699G>A];[2699=], V1: c.2699G>A, (p.Arg900His) - PRPF6_000070 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F111 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.2699G>A r.(?) p.(Arg900His) Unknown - likely pathogenic g.62664219G>A g.64032866G>A PRPF6 c.G2699A:p.R900H - PRPF6_000070 heterozygous PubMed: Zhou 2020 - - In vitro (cloned) yes - - - - DNA ? blood - retinal disease CSUASOi004-A PubMed: Zhou 2020 induced pluripotent stem cell line derived by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient M - - - - - - - 1 LOVD
?/. - c.2699G>A r.(?) p.(Arg900His) Parent #1 - VUS g.62664219G>A g.64032866G>A PRPF6 c.[2699G>A];[2699=]; p.(Arg900His) - PRPF6_000070 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0.000657; GnomAD_All: 0.0000608 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F111 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.2743G>A r.(?) p.(Val915Met) Unknown - VUS g.62664263G>A g.64032910G>A PRPF6(NM_012469.3):c.2743G>A (p.V915M), PRPF6(NM_012469.4):c.2743G>A (p.V915M) - PRPF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2743G>A r.(?) p.(Val915Met) Parent #1 - VUS g.62664263G>A g.64032910G>A - - PRPF6_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139778757 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.2743G>A r.(?) p.(Val915Met) Unknown ACMG VUS g.62664263G>A g.64032910G>A PRPF6:NM_012469 c.G2743A, p.V915M - PRPF6_000024 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-303 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-?/. - c.2743G>A r.(?) p.(Val915Met) Unknown - likely benign g.62664263G>A - PRPF6(NM_012469.3):c.2743G>A (p.V915M), PRPF6(NM_012469.4):c.2743G>A (p.V915M) - PRPF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2755A>G r.(?) p.(Ile919Val) Unknown - likely benign g.62664275A>G g.64032922A>G PRPF6(NM_012469.3):c.2755A>G (p.I919V), PRPF6(NM_012469.4):c.2755A>G (p.(Ile919Val)) - PRPF6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2755A>G r.(?) p.(Ile919Val) Unknown - likely benign g.62664275A>G - PRPF6(NM_012469.3):c.2755A>G (p.I919V), PRPF6(NM_012469.4):c.2755A>G (p.(Ile919Val)) - PRPF6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2806C>T r.(?) p.(Arg936Cys) Unknown - VUS g.62664326C>T g.64032973C>T - - PRPF6_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs550433087 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.2822_2824del r.(?) p.(Phe941*) Unknown ACMG pathogenic g.62664342_62664344del - c.2822_2824delTCT - PRPF6_000053 - 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
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