Full data view for gene PRPH2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000322.4 transcript reference sequence.

2482 entries on 25 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.-281_(581+1_582-1){0} r.? p.? Unknown - pathogenic (dominant) g.(42672350_42689491)_(42690353_?)del g.(42704612_42721753)_(42722615_?)del c.1-?_581+?del - PRPH2_000152 - PubMed: Boulanger-Scemama 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 1/96 - - - DNA SEQ blood - retinal disease CIC03621 PubMed: Boulanger-Scemama 2015 index case - no France white - - - - 1 Manon Peeters
+/+ 1 c.-281_(581+1_582-1){0} r.? p.? Unknown - pathogenic (dominant) g.(42672350_42689491)_(42690353_?)del g.(42704612_42721753)_(42722615_?)del c.1-?_581+?del - PRPH2_000152 - PubMed: Boulanger-Scemama 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 1/96 - - - DNA SEQ blood - retinal disease CIC03620 PubMed: Boulanger-Scemama 2015 Son index case M no France white - - - - 1 Manon Peeters
-/. - c.-11A>C r.(?) p.(=) Unknown - benign g.42690083T>G g.42722345T>G - - PRPH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-11A>C r.(?) p.(=) Unknown ACMG benign g.42690083T>G g.42722345T>G - - PRPH2_000042 ACMG BS1, BS4, BP4 PubMed: Peeters 2021, Journal: Peeters 2021 - rs114062933 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/- 1 c.-11A>C r.(?) p.? Unknown - VUS g.42690083T>G g.42722345T>G - - PRPH2_000042 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs114062933 Germline - 1/15 - - - DNA PCR, SEQ blood - retinal disease Patient 15 PubMed: Boon 2007 index case F no Netherlands white - - - - 1 Manon Peeters
-?/. 1 c.-11A>C r.(=) p.(=) Unknown - likely benign (dominant) g.42690083T>G - c.-11A>C - PRPH2_000042 - PubMed: Anasagasti-2013 - rs114062933 Germline yes 0.03 - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
+?/. _1_1i c.-286_(581+1_582-1){0} r.(?) p.? Parent #1 - likely pathogenic (dominant) g.(42672350_42689491)_(42690353_?)del g.(42704612_42721753)_(42722615_?)del c.1-c581+?del - PRPH2_000152 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC03621 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+/. _1_1i c.-286_(581+1_582-1){0} r.0? p.0? Unknown ACMG pathogenic g.(42672350_42689491)_(42690353_?)del g.(42704612_42721753)_(42722615_?)del - - PRPH2_000152 ACMG PVS1, PM1, PM2 PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i_3_ c.828+1797_*1700{0}ins(?) r.? p.? Unknown - likely pathogenic g.42663546_42670306delinsN[?] - del ex3 insertion ALU Chr6:42663546-42670306del_insALU - PRPH2_000131 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 900 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 1 c.1A>T r.(?) p.(Met1?) Unknown ACMG pathogenic g.42690072T>A g.42722334T>A - - PRPH2_000295 ACMG PVS1, PM1, PM2, PP5, PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.1A>T r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42690072T>A g.42722334T>A Met1Leu - PRPH2_000295 - PubMed: Zhao 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - - Unknown - 1/82 - - - DNA SEQ-NG-I blood - retinal disease RD1200008 PubMed: Zhao 2015 index case F - Northern Ireland white - - - - 1 Manon Peeters
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42690071A>G g.42722333A>G - - PRPH2_000128 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat124 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42690071A>G g.42722333A>G - - PRPH2_000128 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat144 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42690071A>G g.42722333A>G - - PRPH2_000128 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat150 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+/. 1 c.2T>C r.(?) p.(Met1?) Unknown ACMG pathogenic g.42690071A>G g.42722333A>G - - PRPH2_000128 ACMG PVS1, PM1, PM2, PM5, PP5 PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918565 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.2T>C r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42690071A>G g.42722333A>G c.2T>C; p.Met1? - PRPH2_000128 - PubMed: Felbor 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918565 Unknown - 1/28 -NlaIII - - DNA PCR, SSCA, SEQ blood - retinal disease 799 PubMed: Felbor 1997 index case - - Germany white - - - - 1 Manon Peeters
+?/+ 1 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.42690071A>G g.42722333A>G c.2T>C; p.M1T - PRPH2_000128 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918565 Unknown - 1/147 -NlaIII - - DNA MIPsm, SEQ blood - retinal disease Patient 1 PubMed: Peeters 2021, Journal: Peeters 2021 index case F no Germany white - - - - 1 Manon Peeters
+?/. 1 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.42690071A>G g.42722333A>G PRPH2 c.2T>C, p.Met1? - PRPH2_000128 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 146 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.42690071A>G g.42722333A>G PRPH2 c.2T>C, p.Met1? - PRPH2_000128 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 150 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.42690071A>G g.42722333A>G PRPH2 c.2T>C, Met1? - PRPH2_000128 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 157 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.42690071A>G g.42722333A>G PRPH2 c.2T>C, p.Met1? - PRPH2_000128 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 158 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.42690071A>G g.42722333A>G PRPH2 c.2T>C, p.Met1? - PRPH2_000128 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 166 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1 c.4G>T r.(?) p.(Ala2Ser) Parent #1 - likely pathogenic g.42690069C>A g.42722331C>A - - PRPH2_000147 - PubMed: Ramkumar 2017 - - Germline - - - - - DNA SEQ - 17-gene panel retinal disease - PubMed: Ramkumar 2017 - - - United States - - - - - 1 LOVD
?/. 1 c.4G>T r.(?) p.(Ala2Ser) Unknown ACMG VUS g.42690069C>A g.42722331C>A - - PRPH2_000147 ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.13C>T r.? p.? Both (homozygous) - benign g.42690060G>A - 13C>T - PRPH2_000343 8/250 healthy controls PubMed: Bardak 2016 - rs361524 Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Bardak 2016 - - - - - - - - - 1 LOVD
-/. 1 c.13C>T r.? p.? Unknown - benign g.42690060G>A - 13C>T - PRPH2_000343 64/250 healthy controls PubMed: Bardak 2016 - rs361524 Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Bardak 2016 - - - - - - - - - 1 LOVD
?/. - c.37C>T r.(?) p.(Arg13Trp) Unknown - VUS g.42690036G>A g.42722298G>A - - PRPH2_000070 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61754402 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
+/. 1 c.37C>T r.(?) p.(Arg13Trp) Parent #1 - pathogenic g.42690036G>A - - - PRPH2_000070 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
?/. 1 c.37C>T r.(?) p.(Arg13Trp) Unknown ACMG VUS g.42690036G>A g.42722298G>A - - PRPH2_000070 ACMG PM5, PP3; ACMG criteria not strong enough to label as pathogenic PubMed: Peeters 2021, Journal: Peeters 2021 - rs61754402 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.37C>T r.(?) p.(Arg13Trp) Unknown - pathogenic (dominant) g.42690036G>A g.42722298G>A c.37C>T; p.(R13W) - PRPH2_000070 - PubMed: Zaneveld 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61754402 Unknown - 1/88 AciI- - - DNA SEQ-NG-I blood - retinal disease 13/Can PubMed: Zaneveld 2015 index case - - Canada white - - - - 1 Manon Peeters
+?/. 1 c.38G>A r.(?) p.(Arg13Gln) Unknown ACMG likely pathogenic g.42690035C>T g.42722297C>T - - PRPH2_000294 ACMG PS4, PM5, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.38G>A r.(?) p.(Arg13Gln) Unknown - likely pathogenic (dominant) g.42690035C>T g.42722297C>T c.38G>A; p.Arg13Gln - PRPH2_000294 - PubMed: Sun 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline - 1/298 - - - DNA SEQ-NG blood WES retinal disease HM838 PubMed: Sun 2015 index case M - China Asia - - - - 1 Manon Peeters
?/. - c.38G>A r.(?) p.(Arg13Gln) Unknown ACMG VUS g.42690035C>T g.42722297C>T - - PRPH2_000294 ACMG PM2, PM5_SUPPORTING, PP2, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-383 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.40_41insGT r.(?) p.(Val14Glyfs*11) Both (homozygous) - likely pathogenic (recessive) g.42690032_42690033insAC g.42722294_42722295insAC c.40_41insGT - PRPH2_000095 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
?/. - c.44A>G r.(?) p.(Lys15Arg) Unknown - VUS g.42690029T>C g.42722291T>C - - PRPH2_000069 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs555112175 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
?/. 1 c.44A>G r.(?) p.(Lys15Arg) Unknown ACMG VUS g.42690029T>C g.42722291T>C - - PRPH2_000069 ACMG PS4; ACMG criteria not strong enough to label as pathogenic PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.44A>G r.(?) p.(Lys15Arg) Unknown - VUS g.42690029T>C g.42722291T>C c.44A>G; p.K15R - PRPH2_000069 - PubMed: Arai 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline - 1/349 - - - DNA SEQ blood - retinal disease Patient 5 PubMed: Arai 2015 index case - - Japan Asia - - - - 1 Manon Peeters
+/. - c.63G>A r.(?) p.(Trp21Ter) Unknown - pathogenic g.42690010C>T g.42722272C>T - - PRPH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.63G>A r.(?) p.(Trp21*) Unknown ACMG pathogenic g.42690010C>T g.42722272C>T - - PRPH2_000041 ACMG PVS1, PM2, PP1 PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.63G>A r.(?) p.(Trp21*) Unknown - pathogenic (dominant) g.42690010C>T g.42722272C>T c.63G>A; p.W21X - PRPH2_000041 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 2/30 - - - DNA PCR, SEQ blood - retinal disease Fam_I_III:1 PubMed: Boon 2007 index case, sister of fam_I_III:1 F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.63G>A r.(?) p.(Trp21*) Unknown - pathogenic (dominant) g.42690010C>T g.42722272C>T c.63G>A; p.W21X - PRPH2_000041 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 2/30 - - - DNA PCR, SEQ blood - retinal disease Fam_I_III:2 PubMed: Boon 2007 Sister index case F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.63G>A r.(?) p.(Trp21*) Unknown - pathogenic (dominant) g.42690010C>T g.42722272C>T Chr6(GRCh37):g.42690010C>T; p.(Trp21*) - PRPH2_000041 - PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline - 3/147 - - - DNA SEQ-NG blood WES retinal disease Patient 2 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.63G>A r.(?) p.(Trp21*) Unknown - pathogenic (dominant) g.42690010C>T g.42722272C>T Chr6(GRCh37):g.42690010C>T; p.(Trp21*) - PRPH2_000041 - PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline - 3/147 - - - DNA PCR, SEQ blood - retinal disease Patient 3 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.63G>A r.(?) p.(Trp21*) Unknown - pathogenic (dominant) g.42690010C>T g.42722272C>T Chr6(GRCh37):g.42690010C>T; p.(Trp21*) - PRPH2_000041 - PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 3/147 - - - DNA PCR, SEQ blood - retinal disease Patient 4 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.63G>A r.(?) p.(Trp21*) Unknown - pathogenic (dominant) g.42690010C>T g.42722272C>T Chr6(GRCh37):g.42690010C>T; p.(Trp21*) - PRPH2_000041 - PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 3/147 - - - DNA PCR, SEQ blood - retinal disease Patient 4.1 PubMed: Peeters 2021, Journal: Peeters 2021 Sister index case (patient 4) F no Netherlands white - - - - 1 Manon Peeters
+/. 1 c.63G>A r.(?) p.(Trp21Ter) Parent #1 ACMG pathogenic g.42690010C>T g.42722272C>T - - PRPH2_000041 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 032210 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.68del r.(?) p.(Met23Argfs*15) Unknown ACMG likely pathogenic (dominant) g.42690005del - - - PRPH2_000352 - PubMed: Bianco 2023 - - Unknown - - - - - DNA SEQ-NG-I Peripheral Blood Sample - maculopathy X.1 PubMed: Bianco 2023 - F no Italy Italian - - - - 1 Lorenzo Bianco
?/. - c.68del r.(?) p.(Met23Argfs*15) Unknown ACMG likely pathogenic (dominant) g.42690005del - - - PRPH2_000352 - PubMed: Bianco 2023 - - Unknown - - - - - DNA SEQ-NG-I Peripheral Blood Sample - maculopathy XI.1 PubMed: Bianco 2023 - F no Italy Italian - - - - 1 Lorenzo Bianco
+/. 1 c.73_74del r.(?) p.(Trp25Valfs*19) Unknown ACMG pathogenic g.42689999_42690000del g.42722261_42722262del - - PRPH2_000293 ACMG PVS1, PM1, PM2 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755765 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.73_74del r.(?) p.(Trp25Valfs*19) Maternal (inferred) - likely pathogenic (dominant) g.42689999_42690000del g.42722261_42722262del 2-bp deletion codon 25 - PRPH2_000293 - PubMed: Kajiwara 1993, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755765 Germline yes 2/6 +MaeII - - DNA SSCA, SEQ blood - retinal disease Fam7434_III:1 PubMed: Kajiwara 1993 index case, father of Fam7434_IV:1 M no United States - - - - - 1 Manon Peeters
+?/+ 1 c.73_74del r.(?) p.(Trp25Valfs*19) Paternal (confirmed) - likely pathogenic (dominant) g.42689999_42690000del g.42722261_42722262del 2-bp deletion codon 25 - PRPH2_000293 - PubMed: Kajiwara 1993, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755765 Germline yes 2/6 +MaeII - - DNA SSCA, SEQ blood - retinal disease Fam7434_IV:1 PubMed: Kajiwara 1993 Daughter of index case F no United States - - - - - 1 Manon Peeters
+/. 1 c.74_77del r.(?) p.(Trp25Serfs*12) Unknown ACMG pathogenic g.42689997_42690000del g.42722259_42722262del - - PRPH2_000291 ACMG PVS1, PM1, PM2, PP1 PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.74_77del r.(?) p.(Trp25Serfs*12) Unknown - likely pathogenic (dominant) g.42689997_42690000del g.42722259_42722262del c.74_77delGGTT, p.W25SfsX12 - PRPH2_000291 - PubMed: Maertz 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline yes 1/3 - - - DNA SEQ-NG-I blood - retinal disease Patient 3 PubMed: Maertz 2015 index case M - Germany white - - - - 1 Manon Peeters
?/. 1 c.75G>C r.(?) p.(Trp25Cys) Unknown ACMG VUS g.42689998C>G g.42722260C>G - - PRPH2_000292 ACMG PP3; ACMG criteria not strong enough to label as pathogenic PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.75G>C r.(?) p.(Trp25Cys) Unknown - VUS g.42689998C>G g.42722260C>G c.75G>C; p.Trp25Cys - PRPH2_000292 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - - Unknown - 1/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 123 PubMed: Reeves 2020 index case M - United States (white) - - - - 1 Manon Peeters
+?/? 1 c.75G>C r.(?) p.(Trp25Cys) Unknown - likely pathogenic g.42689998C>G g.42722260C>G p.W25C - PRPH2_000292 - PubMed: Strom 2012, PubMed: Peeters 2021, Journal: Peeters 2021 - - Unknown - 1/9 - - - DNA SEQ-NG blood WES retinal disease STGD-03 PubMed: Strom 2012 index case F - United States - - - - - 1 Manon Peeters
+?/? 1 c.75G>C r.(?) p.(Trp25Cys) Unknown - likely pathogenic g.42689998C>G g.42722260C>G p.W25C - PRPH2_000292 - PubMed: Strom 2012, PubMed: Peeters 2021, Journal: Peeters 2021 - - Unknown - 1/9 - - - DNA SEQ-NG blood WES retinal disease STGD-03 PubMed: Strom 2012 index case F - United States - - - - - 1 Manon Peeters
+?/. 1 c.80C>T r.(?) p.(Ser27Phe) Unknown ACMG likely pathogenic g.42689993G>A g.42722255G>A - - PRPH2_000290 ACMG PS4, PP1, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755766 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.80C>T r.(?) p.(Ser27Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42689993G>A g.42722255G>A C>T transition in the second nucleotide of codon 27; p.Phe27Ser - PRPH2_000290 - PubMed: Fishman 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755766 Germline yes 3/7 - - - DNA PCR, DGGE, SSCA blood - retinal disease Fam_1_II:3 PubMed: Fishman 1997 index case M no Germany white - - - - 1 Manon Peeters
+?/+? 1 c.80C>T r.(?) p.(Ser27Phe) Unknown - likely pathogenic (dominant) g.42689993G>A g.42722255G>A C>T transition in the second nucleotide of codon 27; p.Phe27Ser - PRPH2_000290 - PubMed: Fishman 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755766 Germline yes 3/7 - - - DNA PCR, DGGE, SSCA blood - retinal disease Fam_1_I:1 PubMed: Fishman 1997 Father index case M no Germany white - - - - 1 Manon Peeters
+?/+? 1 c.80C>T r.(?) p.(Ser27Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42689993G>A g.42722255G>A C>T transition in the second nucleotide of codon 27; p.Phe27Ser - PRPH2_000290 - PubMed: Fishman 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755766 Germline yes 3/7 - - - DNA PCR, DGGE, SSCA blood - retinal disease Fam_1_II:1 PubMed: Fishman 1997 Brother index case II:3 M no Germany white - - - - 1 Manon Peeters
?/. - c.94A>G r.(?) p.(Ile32Val) Unknown - VUS g.42689979T>C g.42722241T>C - - PRPH2_000068 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61755767 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.94A>G r.(?) p.(Ile32Val) Unknown - VUS g.42689979T>C g.42722241T>C PRPH2(NM_000322.4):c.94A>G (p.I32V), PRPH2(NM_000322.5):c.94A>G (p.I32V) - PRPH2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.94A>G r.(?) p.(Ile32Val) Unknown ACMG likely benign g.42689979T>C g.42722241T>C - - PRPH2_000068 ACMG BP4 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 1 c.94A>G r.(?) p.(Ile32Val) Unknown - VUS g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Unknown - 2/187 -SfaNI - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 153 PubMed: Reeves 2020 index case M - United States (white) - - - - 1 Manon Peeters
?/-? 1 c.94A>G r.(?) p.(Ile32Val) Unknown - VUS g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Unknown - 2/187 -SfaNI - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 155 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
-/-? 1 c.94A>G r.(?) p.(Ile32Val) Unknown - benign g.42689979T>C g.42722241T>C c.A94G; p.I32V - PRPH2_000068 - PubMed: de Breuk 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Unknown - 1/4740 -SfaNI - - DNA MIPsm, PCR, SEQ blood - retinal disease Patient 5 (EUGENDA-407002273) PubMed: de Breuk 2020 index case - no Netherlands white - - - - 1 Manon Peeters
?/-? 1 c.94A>G r.(?) p.(Ile32Val) Both (homozygous) - VUS g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Daftarian 2019, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Germline yes 4/4 -SfaNI - - DNA SEQ, SEQ-NG blood WES retinal disease Fam1_IV-1 PubMed: Daftarian 2019 index case, daughter of fam_1_III:6 and fam_1_III:7, sister of fam_1_IV:2 F yes Iran Arab - - - - 1 Manon Peeters
?/-? 1 c.94A>G r.(?) p.(Ile32Val) Paternal (inferred) - VUS g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Daftarian 2019, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Germline yes 4/4 -SfaNI - - DNA SEQ, SEQ-NG blood WES retinal disease Fam_1_III-6 PubMed: Daftarian 2019 Father index case and fam_1_IV-2, husband and first cousin fam_1_III:7 M yes Iran Arab - - - - 1 Manon Peeters
?/-? 1 c.94A>G r.(?) p.(Ile32Val) Maternal (inferred) - VUS g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Daftarian 2019, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Germline yes 4/4 -SfaNI - - DNA SEQ, SEQ-NG blood WES retinal disease Fam_1_III-7 PubMed: Daftarian 2019 Mother index case and fam_1_IV-2, wife and first cousin of fam_1_III:6 F yes Iran Arab - - - - 1 Manon Peeters
?/-? 1 c.94A>G r.(?) p.(Ile32Val) Unknown - VUS g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Daftarian 2019, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Germline yes 4/4 -SfaNI - - DNA SEQ, SEQ-NG blood WES retinal disease Fam_1_IV:2 PubMed: Daftarian 2019 Sister index case, daughter of fam_1_III:6 and fam_1_III:7 F yes Iran Arab - - - - 1 Manon Peeters
+?/-? 1 c.94A>G r.(?) p.(Ile32Val) Unknown - likely pathogenic (dominant) g.42689979T>C g.42722241T>C c.94A>G; p.Ile32Val - PRPH2_000068 - PubMed: Barbazetto 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755767 Unknown - 1/28 -SfaNI - - DNA DHPLC, SEQ blood - retinal disease Patient 4 PubMed: Barbazetto 2007 index case F - United States - - - - - 1 Manon Peeters
?/. - c.94A>G r.(?) p.(Ile32Val) Unknown - VUS g.42689979T>C - - - PRPH2_000068 - - - rs61755767 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.94A>G r.(?) p.(Ile32Val) Parent #1 - likely pathogenic g.42689979T>C - c.94A>G - PRPH2_000068 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 1 c.94A>G r.(?) p.(Ile32Val) Unknown - likely pathogenic g.42689979T>C - c.94A>G - PRPH2_000068 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-?/. - c.94A>G r.(?) p.(Ile32Val) Unknown - likely benign g.42689979T>C - PRPH2(NM_000322.4):c.94A>G (p.I32V), PRPH2(NM_000322.5):c.94A>G (p.I32V) - PRPH2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.96dup r.(?) p.(Ile33Hisfs*12) Unknown ACMG pathogenic g.42689977dup g.42722239dup - - PRPH2_000289 ACMG PVS1, PM1, PM2 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755768 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.96dup r.(?) p.(Ile33Hisfs*12) Paternal (inferred) - likely pathogenic (dominant) g.42689977dup g.42722239dup 1-bp insertion at codon 32 - PRPH2_000289 - PubMed: Jacobson 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755768 Germline yes 3/27 - - - DNA PCR, DGGE, SSCA blood - retinal disease Family_1_II:1 PubMed: Jacobson 1996 Sister family_1_II:2, aunt of family_1_III:3 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.96dup r.(?) p.(Ile33Hisfs*12) Paternal (inferred) - likely pathogenic (dominant) g.42689977dup g.42722239dup 1-bp insertion at codon 32 - PRPH2_000289 - PubMed: Jacobson 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755768 Germline yes 3/27 - - - DNA PCR, DGGE, SSCA blood - retinal disease Family_1_II:2 PubMed: Jacobson 1996 Brother of family_1_II:1, fathter of family_1_III:3 M no United States - - - - - 1 Manon Peeters
+?/+ 1 c.96dup r.(?) p.(Ile33Hisfs*12) Paternal (confirmed) - likely pathogenic (dominant) g.42689977dup g.42722239dup 1-bp insertion at codon 32 - PRPH2_000289 - PubMed: Jacobson 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755768 Germline yes 3/27 - - - DNA PCR, DGGE, SSCA blood - retinal disease Family_1_III:3 PubMed: Jacobson 1996 Daughter of family_1_II:2, niece of family_1_II:1 F no United States - - - - - 1 Manon Peeters
+/+ 1 c.96dup r.(?) p.(Ile33Hisfs*12) Unknown - pathogenic (dominant) g.42689977dup g.42722239dup c.96dupC; p.Ile33Hisfs*12 - PRPH2_000289 - PubMed: Palma 2019, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755768 Germline yes 1/3 cases - - - DNA SEQ blood panel retinal disease Patient 2 PubMed: Palma 2019 index case M - Brazil Afro-American - - - - 1 Manon Peeters
+?/. 1 c.112G>T r.(?) p.(Gly38*) Unknown ACMG likely pathogenic g.42689961C>A g.42722223C>A - - PRPH2_000287 ACMG PVS1, PM2 PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.112G>T r.(?) p.(Gly38*) Unknown - likely pathogenic (dominant) g.42689961C>A g.42722223C>A c.112G>T; p.G38* - PRPH2_000287 - PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline - 1/147 - - - DNA MIPsm, DHPLC, SEQ blood - retinal disease Patient 6 (ST0379) PubMed: Peeters 2021, Journal: Peeters 2021 index case F - France white - - - - 1 Manon Peeters
+/. 1 c.113del r.(?) p.(Gly38Aspfs*4) Unknown ACMG pathogenic g.42689961del g.42722223del - - PRPH2_000288 ACMG PVS1, PM1, PM12,PP1 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Unknown - pathogenic (dominant) g.42689961del g.42722223del c.113delG; p.Gly38Aspfs*4 - PRPH2_000288 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Unknown - 1/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 52 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Unknown - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at position 112 - PRPH2_000288 - PubMed: Moshfeghi 2006, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 2/3 - - - DNA SEQ blood - retinal disease Case2 PubMed: Moshfeghi 2006 index case, mother case 3 F no United States white - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (inferred) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at position 112 - PRPH2_000288 - PubMed: Moshfeghi 2006, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 2/3 - - - DNA SEQ blood - retinal disease Case3 PubMed: Moshfeghi 2006 Daughter index case F no United States white - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_II:5 PubMed: Yang 2003 Brother fam_1_II:7 and fam_1_II:9, uncle fam_1_III:1 and fam_1_III:8 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_II:7 PubMed: Yang 2003 Mother fam_1_III:8, sister fam_1_II:5 and fam_1_II:9, aunt fam_1_III:1 F no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_II:9 PubMed: Yang 2003 Brother fam_1_II:5 and fam_1_II:7, uncle fam_1_III:1 and fam_1_III:8 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_III:1 PubMed: Yang 2003 Cousin fam_1_III:8, father fam_1_IV:2, uncle fam_1_IV:3 and fam_1_IV:3 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_III:8 PubMed: Yang 2003 Mother fam_1_IV:3 and fam_1_IV:4, niece of fam_1_III:1, aunt of fam_1_IV:2 F no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_IV:2 PubMed: Yang 2003 Son fam_1_III:1, cousin fam_1_III:8/fam_1_IV:3/fam_1_IV:4 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_IV:3 PubMed: Yang 2003 Son fam_1_III:8, brother fam_1_IV:4, cousin fam_1_III:1 and fam_1_IV:2 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_IV:4 PubMed: Yang 2003 Daughter fam_1_III:8, sister fam_1_IV:3, niece fam_1_III:1 and fam_1_IV:2 F no United States - - - - - 1 Manon Peeters
+/. - c.113del r.(?) p.(Gly38Aspfs*4) Unknown - pathogenic g.42689961del g.42722223del PRPH2 c.113del, p.Gly38AspfsTer4 - PRPH2_000288 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-437 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. 1 c.116T>C r.(?) p.(Leu39Pro) Unknown ACMG VUS g.42689957A>G g.42722219A>G - - PRPH2_000286 ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.116T>C r.(?) p.(Leu39Pro) Unknown - likely pathogenic (dominant) g.42689957A>G g.42722219A>G p.PRPH2-L39P - PRPH2_000286 - PubMed: Schorderet 2013, PubMed: Peeters 2021, Journal: Peeters 2021 - - Germline - 1/23 - - - DNA PCR, SEQ blood - retinal disease Patient 17 PubMed: Schorderet 2013 index case - - Switzerland white - - - - 1 Manon Peeters
+/. 1 c.116T>C r.(?) p.(Leu39Pro) Unknown - pathogenic g.42689957A>G - p.PRPH2-L39P - PRPH2_000286 - 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
?/. 1 c.122T>C r.(?) p.(Leu41Pro) Unknown ACMG VUS g.42689951A>G g.42722213A>G - - PRPH2_000285 ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic PubMed: Peeters 2021, Journal: Peeters 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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