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.

67 entries on 1 page. Showing entries 1 - 67.
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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     

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Population     

Age at death     

VIP     

Data_av     

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+/. 1 c.422A>G r.(?) p.(Tyr141Cys) Parent #1 - pathogenic g.42689651T>C - - - PRPH2_000105 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+?/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 882 PubMed: Stone 2017 family, 6 affected F - (United States) - - - - - 6 LOVD
+?/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 883 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 884 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 885 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 886 PubMed: Stone 2017 family, 4 affected M - (United States) - - - - - 4 LOVD
+?/. 1 c.422A>G r.(?) p.(Tyr141Cys) Parent #1 - likely pathogenic g.42689651T>C - RDS: 422A>G - PRPH2_000105 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 4 Julia Lopez
+/. 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown ACMG pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 ACMG PS3, PM1, PM2,PP1, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 4/45 - - - DNA PCR, SEQ blood - retinal disease Family_A_ I:1 PubMed: Yang 2004 Father of index case, family_A_II:3, and family_A_II:4 M no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 4/45 - - - DNA PCR, SEQ blood - retinal disease Family_A_ II:1 PubMed: Yang 2004 index case, son family_A_I:1, brother family_A_II:3 and family_A_II:4 M no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 4/45 - - - DNA PCR, SEQ blood - retinal disease Family_A_II:3 PubMed: Yang 2004 Daughter of family_A_I:1, sister of index case and family_A_II:4 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 4/45 - - - DNA PCR, SEQ blood - retinal disease Family_A_II:4 PubMed: Yang 2004 Daughter of family_A_I:1, sister of index case and family_A_II:3 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_III:1 PubMed: Yang 2004 Uncle of index case/family_B_IV:5/IV6/IV:9/IV:14 cousin of family_B_ III:5 and III:8, M no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_ III:5 PubMed: Yang 2004 Aunt index case/familyB_IV:14, mother of family_B_IV:5/IV:6/IV:9, niece family_B_III:1, sister of family_B_III:8 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_ III:8 PubMed: Yang 2004 Mother index case/familyB_IV:14, aunt of family_B_IV:5/IV:6/IV:9, niece family_B_III:1, sister of family_B_III:5 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_ IV:5 PubMed: Yang 2004 Niece index case/familyB_IV:14, sister of family_B_IV:6/IV:9, niece family_B_III:1/III:8, daughter of family_B_III:5 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_ IV:6 PubMed: Yang 2004 Niece index case/familyB_IV:14, sister of family_B_IV:5/IV:9, niece family_B_III:1/III:8, daughter of family_B_III:5 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_ IV:9 PubMed: Yang 2004 Cousin index case/familyB_IV:14, brother of family_B_IV:5/IV:6, cousin family_B_III:1/III:8, son of family_B_III:5 M no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_IV:13 PubMed: Yang 2004 index case, daughter of family_B_III:8, sister of family_B_IV:14, niece of family_B_III:1/III:5/IV:5/IV:6/IV:9 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 8/45 - - - DNA PCR, SEQ blood - retinal disease Family_B_ IV:14 PubMed: Yang 2004 Brother index case, son of family_B_III:8, cousin of family_B_III:1/III:5/IV:5/IV:6/IV:9 M no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 6/45 - - - DNA PCR, SEQ blood - retinal disease Family_C_II:2 PubMed: Yang 2004 Mother index case, sister of family_CII:4/II:8, aunt of family_c_III:5/III:10 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 6/45 - - - DNA PCR, SEQ blood - retinal disease Family_C_II:4 PubMed: Yang 2004 Aunt of index case and family_C_III:10, sister of family_CII:2/II:8, mother of family_c_III:5 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 6/45 - - - DNA PCR, SEQ blood - retinal disease Family_C_II:8 PubMed: Yang 2004 Aunt of index case and family_C_III:5, sister of family_CII:2/II:8, mother of family_c_III:10 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 6/45 - - - DNA PCR, SEQ blood - retinal disease Family_C_ III:1 PubMed: Yang 2004 index case, Son of family_C_II:2, cousin of family_C_II:4/II:8/III:1/III:5 M no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 6/45 - - - DNA PCR, SEQ blood - retinal disease Family_C_ III:5 PubMed: Yang 2004 Aunt of index case and family_C_III:5, sister of family_CII:2/ III:5, mother of family_c_III:10 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; Tyr141Cys - PRPH2_000105 - PubMed: Yang 2004, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 6/45 - - - DNA PCR, SEQ blood - retinal disease Family_C_ III:10 PubMed: Yang 2004 Aunt of index case and family_C_III:5, sister of family_CII:2/ III:10, mother of family_c_III:10 F no United States white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_100 PubMed: Francis 2005 Brother of family_B_103/104/106/108, father of family_B_1002, Uncle of family_B_1004/1008/1009 M no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_103 PubMed: Francis 2005 Sister of family_B_100/104/106/108, mother of family_B_1004, aunt of family_B_1002/1008/1009 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_104 PubMed: Francis 2005 Sister of family_B_100/103/106/108, aunt of family_B_1002/1004/1008/1009 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_106 PubMed: Francis 2005 Sister of family_B_100/103/104/108, mother of family_B_1008/1009, aunt of family_B_1002/1004 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_108 PubMed: Francis 2005 Sister of family_B_100/103/104/106, aunt of family_B_1002/1004/1008/1009 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_1002 PubMed: Francis 2005 Daughter family_B_100, niece family_B_103/104/106/108/1004/1008/1009 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_1004 PubMed: Francis 2005 Daughter family_B_103, niece family_B_100/104/106/108/1002/1008/1009 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_1008 PubMed: Francis 2005 Daughter family_B_106, niece family_B_100/103/104/108/1002/1004, sister family_B_1009 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C Tyr141Cys - PRPH2_000105 - PubMed: Francis 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 9/38 - - - DNA SEQ blood - retinal disease Family_B_1009 PubMed: Francis 2005 Daughter family_B_106, niece family_B_100/103/104/108/1002/1004, sister family_B_1008 F no United States - - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C 422A.G (Tyr141Cys) - PRPH2_000105 - PubMed: Vaclavik 2012, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 3/5 - - - DNA arrayCGH, SEQ blood - retinal disease Patient III.3 PubMed: Vaclavik 2012 Cousin index case, uncle patient IV.1 M no Switzerland white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Paternal (inferred) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C 422A.G (Tyr141Cys) - PRPH2_000105 - PubMed: Vaclavik 2012, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 3/5 - - - DNA arrayCGH, SEQ blood - retinal disease Patient III.5 PubMed: Vaclavik 2012 index case F no Switzerland white - - - - 1 Manon Peeters
+?/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42689651T>C g.42721913T>C 422A.G (Tyr141Cys) - PRPH2_000105 - PubMed: Vaclavik 2012, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 3/5 - - - DNA arrayCGH, SEQ blood - retinal disease Patient IV.1 PubMed: Vaclavik 2012 Daughter index case, niece patient III:3 F no Switzerland white - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Alapati 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 2/213 - - - DNA PE blood APEX retinal disease PatternDystrophy_patient 5 (case 6) IV:1 PubMed: Alapati 2014 index case, daughter of III:1, sister of IV:3, niece III:4 F no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Alapati 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 2/213 - - - DNA PE blood APEX retinal disease III:1 PubMed: Alapati 2014 Mother index case and IV:3, sister III:4 F no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Alapati 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 2/213 - - - DNA PE blood APEX retinal disease III:4 PubMed: Alapati 2014 Uncle index case and IV:3, brother III:1 M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Maternal (confirmed) - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Alapati 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 2/213 - - - DNA PE blood APEX retinal disease IV:3 PubMed: Alapati 2014 Brother index case, son of III:1, cousin III:4 M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Alapati 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 2/213 - - - DNA PE blood APEX retinal disease PatternDystrophy_patient 6 PubMed: Alapati 2014 index case - no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 14/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 10,1 PubMed: Reeves 2020 index case F no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 14/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 10,2 PubMed: Reeves 2020 Familymember index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 14/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 11,1 PubMed: Reeves 2020 index case F no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 14/188 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 11,2 PubMed: Reeves 2020 Familymember index case F no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 14/189 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 11,3 PubMed: Reeves 2020 Familymember index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Germline yes 14/190 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 11,4 PubMed: Reeves 2020 Familymember index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/191 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 16 PubMed: Reeves 2020 index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/192 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 23 PubMed: Reeves 2020 index case F no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/193 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 58 PubMed: Reeves 2020 index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/194 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 59 PubMed: Reeves 2020 index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/195 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 60 PubMed: Reeves 2020 index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/196 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 61 PubMed: Reeves 2020 index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/197 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 62 PubMed: Reeves 2020 index case M no United States (white) - - - - 1 Manon Peeters
+/+ 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - pathogenic (dominant) g.42689651T>C g.42721913T>C c.422A>G; p.Tyr141Cys - PRPH2_000105 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755781 Unknown - 14/198 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 124 PubMed: Reeves 2020 index case F no United States (white) - - - - 1 Manon Peeters
+?/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 39 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+/. 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown ACMG pathogenic g.42689651T>C g.42721913T>C c.422A>G, p.Tyr141Cys - PRPH2_000105 Heterozygous PubMed: Birtel 2018 - rs61755781 Germline yes - - - - DNA SEQ-NG blood - retinal disease 66 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
?/. 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - VUS g.42689651T>C - p.Y141C - PRPH2_000105 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - M - United States - - - - - 1 LOVD
+?/. 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C - c.422A>G - PRPH2_000105 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C - c.422A>G - PRPH2_000105 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 1 c.422A>G r.(?) p.(Tyr141Cys) Unknown - likely pathogenic g.42689651T>C - c.422A>G - PRPH2_000105 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown ACMG pathogenic g.42689651T>C g.42721913T>C PRPH2 c.422A>G, p.(Tyr141Cys) - PRPH2_000105 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 17/II.1 PubMed: Buhler 2021 Family 17, individual II.1 ? - Switzerland - - - - - 1 LOVD
+/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown ACMG pathogenic g.42689651T>C g.42721913T>C PRPH2 c.422A>G, p.(Tyr141Cys) - PRPH2_000105 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 18/II.2 PubMed: Buhler 2021 Family 18, individual II.2 ? - Switzerland - - - - - 1 LOVD
+/. - c.422A>G r.(?) p.(Tyr141Cys) Unknown ACMG pathogenic g.42689651T>C g.42721913T>C PRPH2 c.422A>G, p.(Tyr141Cys) - PRPH2_000105 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 19/III.2 PubMed: Buhler 2021 Family 19, individual III.2 ? - Switzerland - - - - - 1 LOVD
+/. 1 c.422A>G r.(?) p.(Tyr141Cys) Parent #1 ACMG pathogenic g.42689651T>C g.42721913T>C - - PRPH2_000105 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072794 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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