Full data view for gene RHO

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000539.3 transcript reference sequence.

2066 entries on 21 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c? r.spl p.? Unknown - likely pathogenic (dominant) g.? g.? RHO 150-bp insertion that disrupts the 5'-splice junction of exon 5 - RHO_000000 heterozygous PubMed: Kim 1993 - - Germline yes - - - - DNA SEQ blood - retinal disease III-4 PubMed: Kim 1993 - F - Italy - - - - - 1 LOVD
+?/. - c? r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.? g.? RHO 150-bp insertion that disrupts the 5'-splice junction of exon 5 - RHO_000000 heterozygous PubMed: Kim 1993 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-7 PubMed: Kim 1993 - F - Italy - - - - - 1 LOVD
+?/. - c? r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.? g.? RHO 150-bp insertion that disrupts the 5'-splice junction of exon 5 - RHO_000000 heterozygous PubMed: Kim 1993 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-8 PubMed: Kim 1993 - F - Italy - - - - - 1 LOVD
-/. - c.-26A>G r.(?) p.(=) Unknown - benign g.129247551A>G g.129528708A>G RHO(NM_000539.3):c.-26A>G - RHO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26A>G r.(?) p.(=) Unknown - benign g.129247551A>G g.129528708A>G RHO(NM_000539.3):c.-26A>G - RHO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26A>G r.(?) p.(?) Both (homozygous) - VUS g.129247551A>G g.129528708A>G RHO c.-26 A > G, p.(?), rs7984 - RHO_000006 homozygous; heterozygous in brother PubMed: Donato-2021 - rs7984 Germline no - - - - DNA SEQ blood Sanger sequencing of 4 genes retinal disease II:1 PubMed: Donato-2021 - M yes Egypt - - - - - 1 LOVD
?/. - c.-26A>G r.(?) p.(?) Both (homozygous) - VUS g.129247551A>G g.129528708A>G RHO c.-26 A > G, p.(?), rs7984 - RHO_000006 heterozygous; homozygous in brother PubMed: Donato-2021 - rs7984 Germline no - - - - DNA SEQ blood Sanger sequencing of 4 genes retinal disease II:2 PubMed: Donato-2021 - M yes Egypt - - - - - 1 LOVD
+/. - c.? r.(?) p.? Parent #1 - pathogenic (dominant) g.? - U49742:170C>G, CCC?CGC Leu57Arg - RHO_000000 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.? r.(?) p.? Parent #1 - pathogenic (dominant) g.? - U49742:318A>G, GGA?GGG Gly106Arg - RHO_000000 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.? r.(?) p.? Parent #1 - pathogenic (dominant) g.? - U49742:318A>G, GGA?GGG Gly106Arg - RHO_000000 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.? r.(?) p.? Parent #1 - pathogenic (dominant) g.? - U49742:629C>T, CCT?CTT Pro210Leu - RHO_000000 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 1 c.? r.(?) p.? Parent #1 - pathogenic g.129247746C>T - 170C>T - RHO_000000 Transmembrane site PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
-/. 1 c.? r.(?) p.? Unknown - benign g.129247275_129247277delTTT - c.-300_-302delTTT - RHO_000000 - PubMed: Lim-2009 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - - - - Chinese - - - - 1 LOVD
-/. 1 c.? r.(=) p.? Unknown - benign g.129247376C>T - c.-201C T - RHO_000000 - PubMed: Lim-2009 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - - - - Chinese - - - - 1 LOVD
-/. - c.? r.(?) p.? Unknown - benign g.? - (Cys323Ser) - RHO_000000 - PubMed: Mezer-2006 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Mezer-2006 - - - Canada Canadian - - - - 1 LOVD
?/. - c.? r.(?) p.(Q344*) Unknown - VUS g.? - p.Q344X - RHO_000000 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 Previously described in Jacobson et al., 1994 F - United States - - - - - 1 LOVD
+?/. - c.8G>A r.(?) p.(Gly3Asp) Unknown - likely pathogenic g.129247584G>A g.129528741G>A - - RHO_000132 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 316 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.11C>A r.(?) p.(Thr4Lys) Unknown - pathogenic g.129247587C>A g.129528744C>A - - RHO_000037 - 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
+/. 1 c.11C>A r.(?) p.(Thr4Lys) Unknown - pathogenic g.129247587C>A - Thr4Lys - RHO_000037 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - - - - - - 1 LOVD
+?/. 1 c.11C>A r.(?) p.(Thr4Lys) Unknown - likely pathogenic g.129247587C>A - c.11C>A - RHO_000037 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.11C>G r.(?) p.(Thr4Arg) Unknown - likely pathogenic (dominant) g.129247587C>G g.129528744C>G RHO T4R - RHO_000272 cell line data; no nucleotide annotation, extrapolated from protein and databases; mild misfolding; loss of <5% of the visible peak in 37deg; no change in rhodopsin levels when 11-cis retinal was present during opsin synthesis; rhodopsin yields were slightly lower than that for WT PubMed: Krebs_2010 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Krebs_2010 cell line data ? - - - - - - - 1 LOVD
?/. - c.14A>C r.(?) p.(Glu5Ala) Unknown - VUS g.129247590A>C g.129528747A>C - - RHO_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.14A>C r.(?) p.(Glu5Ala) Unknown ACMG likely pathogenic g.129247590A>C g.129528747A>C - - RHO_000025 ACMG PP3, PM2, PM1, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-262 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.16G>A r.(?) p.(Gly6Ser) Unknown - VUS g.129247592G>A - - - RHO_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>T r.(?) p.(Tyr10=) Unknown - likely benign g.129247606C>T - RHO(NM_000539.3):c.30C>T (p.Y10=) - RHO_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.33del r.(?) p.(Phe13Serfs*35) Unknown - VUS g.129247609del g.129528766del - - RHO_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.33del r.(?) p.(Phe13Serfs*35) Unknown - pathogenic g.129247609del g.129528766del c.33delC, p.(Phe13Serfs*35) - RHO_000038 error in annotation: c.33delC instead of c.33del, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13348 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.34delC r.(?) p.(Phe13Serfs*35) Unknown - likely pathogenic (dominant) g.129247612del g.129528769del RHO c.34delC, p.(Phe13Serfs*35) - RHO_000165 heterozygous PubMed: Wang_2019 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease D_II:1 PubMed: Wang_2019 Family D, proband M - China - - - - - 1 LOVD
+/. 1 c.35C>G r.(?) p.(Pro12Arg) Unknown - pathogenic g.129247611C>G - c.35C>G - RHO_000212 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
?/. - c.35C>G r.(?) p.(Pro12Arg) Unknown - VUS g.129247611C>G - - - RHO_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.36del r.(?) p.(Phe13SerfsTer35) Unknown - likely pathogenic (dominant) g.129247612del g.129528769del 34delC - RHO_000165 not in 100 controls PubMed: Yang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP98 PubMed: Yang 2015 family M - China Han - - - - 1 LOVD
?/. - c.36del r.(?) p.(Phe13SerfsTer35) Unknown - VUS g.129247612del g.129528769del c.34del - RHO_000165 variant found in controls PubMed: Liu 2015 - - Germline no - - - - DNA SEQ-NG - 316-gene panel retinal disease RH16 PubMed: Liu 2015 - - - China - - - - - 1 LOVD
+/. 1 c.36del r.(?) p.(Phe13Serfs*35) Unknown ACMG pathogenic g.129247612del g.129528769del NM_000539.3:c.36del, NP_000530.1:p.(Phe13SerfsTer35), NC_000003.11:g.129247612del - RHO_000165 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016092101 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. - c.36del r.(?) p.(Phe13Serfs*35) Unknown - likely pathogenic g.129247612del g.129528769del RHO c.36delC, p.Pro12fs - RHO_000165 error in annotation: c.36del causes p.Phe13Serfs*35 and not p.Pro12fs; heterozygous PubMed: Liu 2020 - - Germline/De novo (untested) ? 1/64 - - - DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing retinal disease G1498 PubMed: Liu 2020 - ? - China - - - - - 1 LOVD
?/. - c.38T>C r.(?) p.(Phe13Ser) Unknown - VUS g.129247614T>C g.129528771T>C - - RHO_000039 - 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.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G g.129528777A>G RHO(NM_000539.3):c.44A>G (p.N15S) - RHO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G g.129528777A>G RHO(NM_000539.3):c.44A>G (p.N15S) - RHO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G g.129528777A>G RHO(NM_000539.3):c.44A>G (p.N15S) - RHO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Parent #1 ACMG pathogenic (dominant) g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Van Cauwenbergh 2017 - - Germline - - - - - DNA SEQ - - retinal disease FAM_001 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic (dominant) g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Fernandez-San Jose 2015 - rs104893786 Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP0642 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - 2 LOVD
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic (dominant) g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA arraySEQ - RP chip retinal disease RP‐1927 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Parent #1 - pathogenic g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K1841 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G - - - RHO_000007 - PubMed: Jin 2008 - - Unknown - - - - - DNA DHPLC blood - retinal disease - PubMed: Jin 2008 - - - Japan - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic g.129247620A>G g.129528777A>G - - RHO_000007 - 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
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic g.129247620A>G - c.44A>G - RHO_000007 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Parent #1 - likely pathogenic g.129247620A>G g.129528777A>G RHO, variant 1: c.44A>G/p.N15S - RHO_000007 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1178 PubMed: Weisschuh 2020 Filing key number: 866, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Sullivan 1993 - - Germline yes - - - - DNA CMC, SEQ blood - retinal disease III-3 PubMed: Sullivan 1993 - F - Australia - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Sullivan 1993 - - Germline yes - - - - DNA CMC, SEQ blood - retinal disease IV-2 PubMed: Sullivan 1993 - F - Australia - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Sullivan 1993 - - Germline yes - - - - DNA CMC, SEQ blood - retinal disease IV-4 PubMed: Sullivan 1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-3 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-5 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-7 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-9 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-12 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-3 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-5 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-12 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-13 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-3 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-6 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-8 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-9 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-11 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2752 III.3 PubMed: Audo 2010 Family PB41, proband's granddaughter (error in annotation, III:12 in the table and III:3 in the pedigree) F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2810 I.1 PubMed: Audo 2010 Family PB41, proband F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2808 II.2 PubMed: Audo 2010 Family PB41, proband's daughter F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2799 III.1 PubMed: Audo 2010 Family PB41, proband's grandson F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2923 I.2 PubMed: Audo 2010 Family PB42, proband F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2929 II.4 PubMed: Audo 2010 Family PB42, proband's daughter 3 F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2927 II.8 PubMed: Audo 2010 Family PB42, proband's son M - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2938 III.12 PubMed: Audo 2010 Family PB42, proband's grandson (son of II.8) M - France French - - - - 1 LOVD
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G - c.44A>G - RHO_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.44A>G r.(?) p.(Asn15Ser) Parent #1 - pathogenic g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Midgley 2024 - rs104893786 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat44 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+?/. 1 c.44A>T r.(?) p.(Asn15Ile) Unknown ACMG likely pathogenic g.129247620A>T g.129528777A>T c.44A>T, p.Asn15Ile - RHO_000218 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ blood - retinal disease 56 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+?/. - c.45T>G r.(?) p.(Asn15Lys) Unknown - likely pathogenic (dominant) g.129247621T>G g.129528778T>G RHO c.45T>G p.Asn15Lys - RHO_000300 heterozygous - parents not tested PubMed: Vilela 2018 - - Unknown ? - - - - DNA SEQ-NG blood targeted exome sequencing panel - over 200 known inherited retinal degeneration retinal disease ? PubMed: Vilela 2018 parents first cousins F yes Brazil Italian - - - - 1 LOVD
+/. - c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104893769 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.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Holtan 2020 - - Germline - 4/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 4 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 4 Global Variome, with Curator vacancy
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 ACMG likely pathogenic (dominant) g.129247626C>T - - - RHO_000040 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 ACMG likely pathogenic (dominant) g.129247626C>T - - - RHO_000040 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.50C>T r.(?) p.(Thr17Met) Parent #1 - pathogenic (dominant) g.129247626C>T - - - RHO_000040 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 318 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 1 c.50C>T r.(?) p.(Thr17Met) Parent #1 - pathogenic g.129247626C>T - 50C>T - RHO_000040 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic (dominant) g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Fernandez 2014 - - Germline - - - - - DNA DGGE, SEQ - - retinal disease RP‐0706 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Martin-Merida 2018 - - Germline ? 2/258 - - - 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
+?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Martin-Merida 2018 - - Germline ? 2/258 - - - 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
+/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown ACMG pathogenic g.129247626C>T g.129528783C>T NM_000539.3:c.50C>T, NP_000530.1:p.(Thr17Met), NC_000003.11:g.129247626C>T - RHO_000040 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121220 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic g.129247626C>T - Thr17Met - RHO_000040 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - - - - - - 1 LOVD
?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - VUS g.129247626C>T - c.50C>T - RHO_000040 - PubMed: Kim-2012 - - Unknown - 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - - - China - - - - - 1 LOVD
+?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T - c.50C>T - RHO_000040 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.(Thr17Met) - RHO_000040 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 218 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 34 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 39 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 40 PubMed: Jauregui 2020 - F - (United States) Hispanic - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 265 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 266 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 267 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 268 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 763 PubMed: Weisschuh 2020 Filing key number: 296, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
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