Unique variants in the RHO gene

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.

329 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 3 - c? r.spl p.? - 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 - - - - LOVD
-/., ?/. 4 - c.-26A>G r.(?) p.(=), p.(?) - benign, VUS g.129247551A>G g.129528708A>G RHO c.-26 A > G, p.(?), rs7984, RHO(NM_000539.3):c.-26A>G - RHO_000006 heterozygous; homozygous in brother, homozygous; heterozygous in brother, 1 more item PubMed: Donato-2021 - rs7984 CLASSIFICATION record, Germline no - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., -/., ?/. 9 1 c.? r.(=), r.(?) p.(Q344*), p.? - benign, pathogenic, pathogenic (dominant), VUS g.129247275_129247277delTTT, g.129247376C>T, g.129247746C>T, g.? - (Cys323Ser), 170C>T, c.-201C T, c.-300_-302delTTT, p.Q344X, U49742:170C>G, CCC?CGC Leu57Arg, 2 more items - RHO_000000 Transmembrane site PubMed: Lim-2009, PubMed: Matsui 2015, PubMed: Mezer-2006, PubMed: Sohocki 2001, PubMed: Sullivan 2006 - - Germline, Unknown yes - - - - Julia Lopez
+?/. 1 - c.8G>A r.(?) p.(Gly3Asp) - likely pathogenic g.129247584G>A g.129528741G>A - - RHO_000132 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/., +?/. 3 1 c.11C>A r.(?) p.(Thr4Lys) - likely pathogenic, pathogenic g.129247587C>A g.129528744C>A c.11C>A, Thr4Lys - RHO_000037 - PubMed: Bunge_1993, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Panneman 2023 - - Germline, Unknown - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi, Daan Panneman
+?/. 1 - c.11C>G r.(?) p.(Thr4Arg) - likely pathogenic (dominant) g.129247587C>G g.129528744C>G RHO T4R - RHO_000272 1 more item PubMed: Krebs_2010 - - In vitro (cloned) ? - - - - LOVD
+?/., ?/. 2 - c.14A>C r.(?) p.(Glu5Ala) ACMG likely pathogenic, VUS g.129247590A>C g.129528747A>C - - RHO_000025 ACMG PP3, PM2, PM1, PP2, VKGL data sharing initiative Nederland PubMed: Weisschuh 2024 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.16G>A r.(?) p.(Gly6Ser) - VUS g.129247592G>A - - - RHO_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.30C>T r.(?) p.(Tyr10=) - likely benign g.129247606C>T - RHO(NM_000539.3):c.30C>T (p.Y10=) - RHO_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 2 - c.33del r.(?) p.(Phe13Serfs*35) - pathogenic, VUS g.129247609del g.129528766del c.33delC, p.(Phe13Serfs*35) - RHO_000038 error in annotation: c.33delC instead of c.33del, heterozygous PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Wang 2019 - - Germline ? 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 1 - c.34delC r.(?) p.(Phe13Serfs*35) - likely pathogenic (dominant) g.129247612del g.129528769del RHO c.34delC, p.(Phe13Serfs*35) - RHO_000165 heterozygous PubMed: Wang_2019 - - Unknown ? - - - - LOVD
+/., ?/. 2 1 c.35C>G r.(?) p.(Pro12Arg) - pathogenic, VUS g.129247611C>G - c.35C>G - RHO_000212 VKGL data sharing initiative Nederland PubMed: Eisenberger-2013 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
+/., +?/., ?/. 4 1 c.36del r.(?) p.(Phe13Serfs*35), p.(Phe13SerfsTer35) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, VUS g.129247612del g.129528769del 34delC, c.34del, NM_000539.3:c.36del, NP_000530.1:p.(Phe13SerfsTer35), NC_000003.11:g.129247612del, 1 more item - RHO_000165 error in annotation: c.36del causes p.Phe13Serfs*35 and not p.Pro12fs; heterozygous, 2 more items PubMed: Liu 2015, PubMed: Liu 2020, PubMed: Wang 2018, PubMed: Yang 2015 - - Germline, Germline/De novo (untested) ?, no 1/64 - - - LOVD
?/. 1 - c.38T>C r.(?) p.(Phe13Ser) - VUS g.129247614T>C g.129528771T>C - - RHO_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/., +?/. 38 1 c.44A>G r.(?) p.(Asn15Ser) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247620A>G g.129528777A>G c.44A>G, RHO c.44A>G, p.Asn15Ser, RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser, 2 more items - RHO_000007 heterozygous, solved, heterozygous, VKGL data sharing initiative Nederland PubMed: Audo 2010, PubMed: Fernandez 2014, PubMed: Fernandez-San Jose 2015, PubMed: Jin 2008, 9 more items - rs104893786 CLASSIFICATION record, Germline, Unknown ?, yes 1/258 - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Daan Panneman
+?/. 1 1 c.44A>T r.(?) p.(Asn15Ile) ACMG likely pathogenic g.129247620A>T g.129528777A>T c.44A>T, p.Asn15Ile - RHO_000218 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - LOVD
+?/. 1 - c.45T>G r.(?) p.(Asn15Lys) - 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 ? - - - - LOVD
+/., +?/., ?/. 59 1 c.50C>T r.(?) p.(Thr17Met), p.Thr17Met ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant), VUS g.129247626C>T g.129528783C>T 50C>T, c.50C>T, NM_000539.3:c.50C>T, NP_000530.1:p.(Thr17Met), NC_000003.11:g.129247626C>T, 15 more items - RHO_000040 ACMG PM2, PM5, PM1, PP2, PP5_STRONG, heterozygous, marked as causative, heterozygous, 3 more items PubMed: Bell 1994, PubMed: Bunge_1993, PubMed: Dryja 1991, PubMed: Dryja 2000, PubMed: Fernandez 2014, 25 more items 13018 rs104893769 Germline, In vitro (cloned), Unknown ?, yes 1/336 cases; 0/360 controls, 1/86 cases, 2/258, 3/1204 cases with retinitis pigmentosa, 4/899 cases - - - Global Variome, with Curator vacancy, Johan den Dunnen, Julia Lopez, Yoshito Koyanagi
-?/. 1 - c.51G>A r.(?) p.(Thr17=) - likely benign g.129247627G>A g.129528784G>A RHO(NM_000539.3):c.51G>A (p.T17=) - RHO_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 3 - c.53G>A r.(?) p.(Gly18Asp) ACMG likely pathogenic, pathogenic g.129247629G>A g.129528786G>A RHO c.53G>A, p.Gly18Asp - RHO_000088 conflicting in silico model predictions, heterozygous PubMed: Comander 2017, PubMed: Sharon 2019, PubMed: Zampaglione 2020 - - Germline, Unknown ? 2/2420 IRD families - - - Global Variome, with Curator vacancy
+?/. 6 - c.59T>G r.(?) p.(Val20Gly) - likely pathogenic (dominant) g.129247635T>G g.129528792T>G RHO c.59T>G, Val20Gly - RHO_000273 heterozygous PubMed: Schuster 2005 - - Germline yes - - - - LOVD
+?/. 6 - c.61C>T r.(?) p.(Arg21Cys) - likely pathogenic, likely pathogenic (dominant) g.129247637C>T g.129528794C>T RHO p.R21C, RHO(NM_000539.3):c.61C>T (p.R21C) - RHO_000066 heterozygous; no nucleotide annotation, extrapolated from protein and databases, 1 more item PubMed: Yang 2014 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_AMC
+/., +?/. 7 - c.67C>G r.(?) p.(Pro23Ala) - likely pathogenic (dominant), pathogenic (dominant) g.129247643C>G g.129528800C>G RHO CCC to GCC, Pro23Ala, RHO P23A - RHO_000274 heterozygous; no nucleotide annotation, extrapolated from protein and databases, 1 more item PubMed: Krebs_2010, PubMed: Oh 2000 - - Germline, In vitro (cloned) ?, yes - - - - LOVD
+/., +?/., -/., ?/. 104 1 c.68C>A r.(?) p.(Pro23His) - benign, likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant), VUS g.129247644C>A g.129528801C>A 68C>A, c.68C>A, RHO C-to-A tranversion in codon 23 - proline to histidine, RHO C362A, P23H, 8 more items - RHO_000106 heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases, 1 more item PubMed: Aleman 2008, PubMed: Bowne 2011, PubMed: Dryja 1990, PubMed: Dryja 1991, PubMed: Dryja 2000, 12 more items - rs104893768 Germline, In vitro (cloned), Unknown ?, yes 12.11% - - - Julia Lopez
+/., +?/. 9 - c.68C>T r.(?) p.(Pro23Leu) - likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247644C>T g.129528801C>T RHO codon 23, sequence: CCC->CTC, amino acid change: Pro->Leu, RHO P23L, RHO Pro23Leu - RHO_000026 heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases, 2 more items PubMed: Alvarez 1999, PubMed: Dryja 1991, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, 1 more item - - CLASSIFICATION record, Germline, In vitro (cloned) ?, yes 2/1204 cases with retinitis pigmentosa - - - VKGL-NL_Nijmegen, Yoshito Koyanagi
+?/. 1 - c.70T>C r.(?) p.(Phe24Leu) - likely pathogenic g.129247646T>C g.129528803T>C RHO c.70T>C p.(Phe24Leu) - RHO_000242 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
?/. 1 - c.74A>C r.(?) p.(Glu25Ala) - VUS g.129247650A>C - - - RHO_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.82C>G r.(?) p.(Gln28Glu) - VUS g.129247658C>G g.129528815C>G - - RHO_000041 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 5 - c.82C>T r.(?) p.(Gln28*) - likely pathogenic (dominant) g.129247658C>T g.129528815C>T RHO c.82C>T, p.(Gln28*) - RHO_000301 heterozygous, homozygous PubMed: Wang_2019 - - Germline yes - - - - LOVD
+/., +?/. 3 - c.83A>G r.(?) p.(Gln28Arg) - likely pathogenic, pathogenic (dominant) g.129247659A>G g.129528816A>G 3:129247659A>G ENST00000296271.3:c.83A>G (Gln28Arg), RHO c.83A>G, p.Gln28Arg, 1 more item - RHO_000124 heterozygous PubMed: Carss 2017, PubMed: Jauregui 2020, PubMed: Turro 2020 - - Germline, Germline/De novo (untested), Unknown ? - - - - LOVD
+?/. 5 1 c.84G>C r.(?) p.(Gln28His) ACMG likely pathogenic, likely pathogenic (dominant), VUS g.129247660G>C g.129528817G>C p.Gln28Hist - RHO_000175 - PubMed: Anasagasti-2013, PubMed: Fernandez 2014, PubMed: Martin-Merida 2018 - - Germline, Germline/De novo (untested) ?, yes 2/258 - - - Jinu Han
+/. 4 1 c.84G>T r.(?) p.(Gln28His) - pathogenic g.129247660G>T g.129528817G>T Gln28His, RHO(NM_000539.3):c.84G>T (p.Q28H) - RHO_000009 VKGL data sharing initiative Nederland PubMed: Bunge_1993 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 3 - c.92T>A r.(?) p.(Leu31Gln) - likely pathogenic (dominant) g.129247668T>A g.129528825T>A RHO p.L31Q - RHO_000287 heterozygous PubMed: Xiao 2019 - - Germline, Unknown ?, yes - - - - LOVD
+?/. 4 - c.116T>G r.(?) p.(Met39Arg) - likely pathogenic, likely pathogenic (dominant) g.129247692T>G g.129528849T>G RHO c.116T>G (p.M39R), RHO c.116T>G, p.Met39Arg, RHO c.410G>T, p.Met39Arg - RHO_000254 error in annotation, p.Met39Arg is caused by c.116T>G and not c.410G>T, heterozygous PubMed: Davies_2012, PubMed: Georgiou 2021 - - Germline, Unknown ? - - - - LOVD
?/. 1 - c.119T>C r.(?) p.(Leu40Pro) - VUS g.129247695T>C g.129528852T>C - - RHO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 4 - c.119T>G r.(?) p.(Leu40Arg) - likely pathogenic (dominant) g.129247695T>G g.129528852T>G RHO codon: 40, sequence: CTG-CGG, protein: Leu-Arg, 1 more item - RHO_000264 heterozygous PubMed: Al-Maghtheh_1994, PubMed: Kim 1993 - - Germline yes - - - - LOVD
-?/., ?/. 2 - c.124G>A r.(?) p.(Ala42Thr) - likely benign, VUS g.129247700G>A g.129528857G>A RHO 124G/A Ala42Thr - RHO_000042 heterozygous PubMed: Ando 2007, PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs538820015 Germline yes 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/., +?/., ?/. 3 1 c.131T>C r.(?) p.(Met44Thr) - likely pathogenic, pathogenic (dominant), VUS g.129247707T>C g.129528864T>C RHO codon: 44, sequence: ATG-ACG, protein: Met-Thr - RHO_000176 1 more item PubMed: Fernandez 2014, PubMed: Martin-Merida 2018, PubMed: Reig 1994 - - Germline, Unknown ?, yes 1/258 - - - LOVD
+?/. 8 1 c.133T>C r.(?) p.(Phe45Leu) - likely pathogenic, likely pathogenic (dominant) g.129247709T>C g.129528866T>C Phe45Leu, RHO c.133T>C (p.F45L), RHO C427T, F45L, RHO TTT to CTT, Phe45Leu - RHO_000200 heterozygous, heterozygous, inherited from an asymptomatic father, 1 more item PubMed: Davies_2012, PubMed: Dryja 2000, PubMed: Matias-Florentino-2009, PubMed: Sung 1991 - - Germline, Unknown ?, yes - - - - LOVD
+/., +?/. 7 1 c.137T>G r.(?) p.(Leu46Arg) - likely pathogenic, likely pathogenic (dominant), pathogenic (dominant) g.129247713T>G g.129528870T>G 137T>G, RHO codon: 46, sequence: CTG-CGG, protein: Leu-Arg, RHO, variant 1: c.137T>G/p.L46R - RHO_000107 heterozygous, solved, heterozygous PubMed: Rodriguez_1993, PubMed: Sohocki 2001, PubMed: Sullivan 2006, PubMed: Weisschuh 2020 - - Germline, Unknown ?, yes - - - - Julia Lopez
+/., +?/. 11 1 c.151G>C r.(?) p.(Gly51Arg) - likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247727G>C g.129528884G>C c.151G>C, RHO codon: 51, sequence: GGC-CGC, protein: Gly-Arg, RHO GGC to CGC, Gly51Arg, 1 more item - RHO_000129 heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases, 1 more item PubMed: Comander 2017, PubMed: Coussa 2015, PubMed: Dryja 1992, PubMed: Dryja 2000, 2 more items - - Germline, Unknown ?, yes 3/60 cases - - - Daan Panneman
+?/. 1 1 c.152G>A r.(?) p.(Gly51Asp) - likely pathogenic (dominant) g.129247728G>A - c.152G>A - RHO_000249 - PubMed: Liu-2020 - - Germline - - - - - LOVD
+?/., -/., ?/. 3 1 c.152G>C r.(?) p.(Gly51Ala) - benign, likely pathogenic (dominant), VUS g.129247728G>C g.129528885G>C (Gly51Ala)§, RHO codon: 51, sequence: GGC-GCC, protein: G51A, RHO(NM_000539.3):c.152G>C (p.G51A) - RHO_000010 heterozygous, VKGL data sharing initiative Nederland PubMed: Macke_1993, PubMed: Mezer-2006 - - CLASSIFICATION record, Germline, Unknown ? - - - - VKGL-NL_AMC
+?/., ?/. 16 1 c.152G>T r.(?) p.(Gly51Val) - likely pathogenic, likely pathogenic (dominant), VUS g.129247728G>T g.129528885G>T c.152G>T, RHO codon 51, sequence: GGC->GTC, amino acid change: Gly->Val, 2 more items - RHO_000011 heterozygous, solved, heterozygous, VKGL data sharing initiative Nederland PubMed: Dryja 1991, PubMed: Sullivan-2013, PubMed: Weisschuh 2020 - - CLASSIFICATION record, Germline, Unknown ?, yes - - - - VKGL-NL_Rotterdam
+?/. 1 - c.154T>G r.(?) p.(Phe52Val) ACMG likely pathogenic (dominant) g.129247730T>G g.129528887T>G - - RHO_000157 - PubMed: Roberts 2016 - - Germline - - - - - LOVD
+/., +?/. 13 1 c.158C>G r.(?) p.(Pro53Arg) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247734C>G g.129528891C>G 3:129247734C>G ENST00000296271.3:c.158C>G (Pro53Arg), c.158C>G(p.Pro53Arg), P53R, 6 more items - RHO_000089 heterozygous, solved, heterozygous, VKGL data sharing initiative Nederland PubMed: Beryozkin 2016, PubMed: Carss 2017, PubMed: Chen-2013, PubMed: Davies_2012, PubMed: Luo 2020, 6 more items - rs104893775 CLASSIFICATION record, De novo, Germline, Germline/De novo (untested), Unknown ?, yes 1/2420 IRD families - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
+?/. 1 - c.165C>A r.(?) p.(Asn55Lys) - likely pathogenic g.129247741C>A g.129528898C>A RHO c.165C>A, p.Asn55Lys - RHO_000255 - PubMed: Georgiou 2021 - - Unknown ? - - - - LOVD
+/. 1 - c.170T>G r.(?) p.(Leu57Arg) - pathogenic (dominant) g.129247746T>G g.129528903T>G - - RHO_000162 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
+/., +?/. 35 1 c.173C>G r.(?) p.(Thr58Arg) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247749C>G g.129528906C>G 173C>G, c.173C>G, RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg, 9 more items - RHO_000130 error in annotation, p.Thr58Arg is caused by c.173C>G and not c.467C>G, heterozygous, homozygous, 3 more items PubMed: Aleman 2008, PubMed: Bunge_1993, PubMed: Comander 2017, PubMed: Dineiro 2020, 11 more items - rs28933394 Germline, Unknown ?, yes 2/258 - - - Julia Lopez
+?/. 1 - c.173C>T r.(?) p.(Thr58Met) - likely pathogenic g.129247749C>T g.129528906C>T RHO c.173C>T, p.Thr58Met - RHO_000239 heterozygous PubMed: Liu 2020 - rs28933394 Germline/De novo (untested) ? 1/64 - - - LOVD
+?/. 1 2 c.173C>T (p.Thr58Met) r.(?) p.(Thr58Met) - likely pathogenic (dominant) g.129247749C>T g.129528906C>T RHO c.173C>T (p.Thr58Met) - RHO_000239 heterozygous PubMed: Napier 2015 - - Unknown ? 0/360 control individuals - - - LOVD
+?/. 1 - c.176T>A r.(?) p.(Leu59His) - likely pathogenic g.129247752T>A g.129528909T>A - - RHO_000133 - PubMed: Stone 2017 - - Germline - - - - - LOVD
?/. 1 - c.178T>C r.(?) p.(Tyr60His) - VUS g.129247754T>C g.129528911T>C - - RHO_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 6 1 c.180C>A r.(?) p.(Tyr60*), p.(Tyr60Ter) ACMG likely pathogenic, pathogenic g.129247756C>A g.129528913C>A c.180C>A, RHO c.180C>A, p.(Y60*) - RHO_000192 - PubMed: Eisenberger-2013, PubMed: Martin-Merida 2018, PubMed: Oishi 2014, PubMed: Xiao-2021 - - Germline, Unknown ?, yes 1/258 - - - LOVD
+/., +?/. 10 1 c.190C>T r.(?) p.(Gln64*), p.(Gln64Ter) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic g.129247766C>T g.129528923C>T c.190C>T, RHO c.190C>T, p.(Q64*), RHO codon: 64, sequence: CAG-TAG, protein: Q64ter - RHO_000067 heterozygous, VKGL data sharing initiative Nederland PubMed: Macke_1993, PubMed: Sullivan-2013, PubMed: Xiao-2021 - - CLASSIFICATION record, Germline, Unknown yes - - - - VKGL-NL_Nijmegen
+?/. 1 - c.192G>T r.(?) p.(Gln64His) - VUS g.129247768G>T - - - RHO_000308 - PubMed: Zanoni 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 1 c.196A>T r.(?) p.(Lys66*) - pathogenic g.129247772A>T g.129528929A>T c.196A>T - RHO_000043 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Panneman 2023 - - Germline, Unknown - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi, Daan Panneman
+?/., ?/. 2 - c.203T>G r.(?) p.(Leu68Arg) ACMG likely pathogenic, VUS g.129247779T>G g.129528936T>G RHO c.203T>G, p.(Leu68Arg), RHO(NM_000539.3):c.203T>G (p.L68R) - RHO_000068 VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_AMC
+/. 1 1 c.204_215del r.(?) p.(Arg69_Leu72del) - likely pathogenic (dominant) g.129247780_129247791del g.129528937_129528948del codon 68-71, nucleotide: 12 bp del, amino acids deleted: Leu, Arg, Thr, Pro - RHO_000261 heterozygous PubMed: Keen 1991 - - Unknown ? - - - - LOVD
+?/., ?/. 2 - c.206G>A r.(?) p.(Arg69His) - likely pathogenic (dominant), VUS g.129247782G>A g.129528939G>A RHO c.206G>A (p.R69H) - RHO_000172 heterozygous PubMed: Davies_2012, PubMed: Xu 2014 - rs118173887 Germline, Unknown ? 1/314 case chromosomes - - - LOVD
-/. 1 1 c.209C>T r.(?) p.(Thr70Met) - benign g.129247785C>T - 209C>T - RHO_000146 - PubMed: Sullivan 2006 - - Germline no - - - - Julia Lopez
+/. 1 - c.217_219del r.(?) p.(Asn73del) - pathogenic (dominant) g.129247793_129247795del g.129528950_129528952del g.312_314delAAC - RHO_000313 - PubMed: De Sousa Dias 2013 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.218A>G r.(?) p.(Asn73Ser) - likely pathogenic g.129247794A>G g.129528951A>G RHO, variant 1: c.218A>G/p.N73S - RHO_000240 possibly solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
?/. 1 - c.219C>A r.(?) p.(Asn73Lys) - VUS g.129247795C>A - RHO(NM_000539.3):c.219C>A (p.N73K) - RHO_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 6 1 c.233A>T r.(?) p.(Asn78Ile) - likely pathogenic, likely pathogenic (dominant), pathogenic g.129247809A>T g.129528966A>T Asn78Ile*, RHO c.233A>T, p.N78I - RHO_000044 heterozygous PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Matias-Florentino-2009, 1 more item - - Germline yes 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 2 1 c.236T>C r.(?) p.(Leu79Pro) - likely pathogenic, likely pathogenic (dominant) g.129247812T>C g.129528969T>C - - RHO_000177 - PubMed: Fernandez 2014, PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - LOVD
?/. 1 - c.241G>A r.(?) p.(Val81Met) - VUS g.129247817G>A g.129528974G>A RHO(NM_000539.3):c.241G>A (p.V81M) - RHO_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 1 c.259G>C r.(?) p.(Val87Leu) - likely pathogenic (dominant) g.129247835G>C - g.129247835G>C, p.Val87Leu - RHO_000224 - PubMed: Anasagasti-2013 - - Germline yes - - - - LOVD
+?/. 3 - c.260T>A r.(?) p.(Val87Asp) - likely pathogenic, likely pathogenic (dominant) g.129247836T>A g.129528993T>A RHO T554A, V87D - RHO_000134 heterozygous PubMed: Stone 2017, PubMed: Sung 1991 - - Germline yes - - - - LOVD
+/., +?/. 6 - c.263T>C r.(?) p.(Leu88Pro) - likely pathogenic, likely pathogenic (dominant), pathogenic g.129247839T>C g.129528996T>C RHO c.263T>C, p.Leu88Pro - RHO_000045 heterozygous PubMed: Audo 2010, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Midgley 2024 - rs1057521112 Germline yes 1/1204 cases with retinitis pigmentosa - - - Johan den Dunnen, Yoshito Koyanagi
+?/. 5 1 c.265G>C r.(?) p.(Gly89Arg) ACMG likely pathogenic, likely pathogenic (dominant) g.129247841G>C g.129528998G>C RHO c.265G>C, p.(Gly89Arg ), RHO c.265G>C, p.(Gly89Arg) - RHO_000147 - PubMed: Jespersgaar 2019, PubMed: Van Cauwenbergh 2017 - - Germline ? - - - - LOVD
+/., +?/. 31 1 c.266G>A r.(?) p.(Gly89Asp) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic g.129247842G>A g.129528999G>A RHO c.266G>A, p.(G89D), RHO c.266G>A, p.G89D, RHO G560A, G89D, RHO GGT to GAT, Gly89Asp, 1 more item - RHO_000090 heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Dryja 1991, PubMed: Dryja 2000, PubMed: Jauregui 2020, PubMed: Jin 2008, PubMed: Midgley 2024, 3 more items - rs104893772 Germline, Unknown ?, yes 1/2420 IRD families - - - Global Variome, with Curator vacancy, Johan den Dunnen
+/., +?/., ?/. 31 1 c.269G>A r.(?) p.(Gly90Asp) ACMG likely pathogenic (dominant), pathogenic, pathogenic (dominant), VUS g.129247845G>A g.129529002G>A RHO codon: 90, sequence: GGC-GAC, protein: Gly-Asp, RHO G90D, RHO p.G90D - RHO_000064 ACMG PP3, PM2, PM1, PP2, PP5_STRONG, heterozygous, 2 more items PubMed: Kobal 2021, PubMed: Rao 1994, PubMed: Sieving 1995, PubMed: Toledo 2011, PubMed: Zeitz-2009, 1 more item - rs104893790 Germline, In vitro (cloned) ?, yes - - - - Johan den Dunnen
+/., +?/. 6 1 c.269G>T r.(?) p.(Gly90Val) - likely pathogenic (dominant), pathogenic (dominant) g.129247845G>T g.129529002G>T RHO c.936G>A (p.Gln312Gln), RHO G90V - RHO_000275 heterozygous, 1 more item PubMed: Neidhardt 2006, PubMed: Toledo 2011 - - Germline, In vitro (cloned) ?, yes 1/78 tested Swiss families; 0/340 ethnically matching control alleles - - - LOVD
+?/. 1 - c.275C>T r.(?) p.(Thr92Ile) - likely pathogenic (dominant) g.129247851C>T g.129529008C>T RHO p.T92I - RHO_000288 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Shah 2014 - - Germline yes - - - - LOVD
+/., ?/. 2 1 c.281C>T r.(?) p.(Thr94Ile) - pathogenic (dominant), VUS g.129247857C>T g.129529014C>T - - RHO_000065 - PubMed: al-Jandal 1999, PubMed: Zeitz-2009 - - Germline yes - - - - Johan den Dunnen
+?/. 3 1 c.284T>C r.(?) p.(Leu95Pro) - likely pathogenic, likely pathogenic (dominant) g.129247860T>C g.129529017T>C c.284T>C, RHO c.284T>C, p.L95P - RHO_000302 heterozygous, VKGL data sharing initiative Nederland PubMed: Panneman 2023, PubMed: Roshandel 2019 - - CLASSIFICATION record, Germline, Unknown yes - - - - VKGL-NL_Nijmegen, Daan Panneman
+?/. 2 1 c.290C>T r.(?) p.(Thr97Ile) - likely pathogenic, likely pathogenic (dominant) g.129247866C>T g.129529023C>T - - RHO_000178 - PubMed: Fernandez 2014, PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - LOVD
?/. 1 - c.296T>C r.(?) p.(Leu99Pro) - VUS g.129247872T>C g.129529029T>C - - RHO_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/., +?/. 2 1 c.302G>A r.(?) p.(Gly101Glu) - likely pathogenic, pathogenic (recessive) g.129247878G>A g.129529035G>A c.302G>A:p.G101E - RHO_000257 - PubMed: Moon 2021, PubMed: Numa-2020 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 1 - c.302G>T r.(?) p.(Gly101Val) - pathogenic g.129247878G>T g.129529035G>T - - RHO_000131 - PubMed: Comander 2017 - - Germline - - - - - LOVD
+?/., -/., -?/., ?/. 10 1 c.310G>A r.(?) p.(Val104Ile) - benign, likely benign, likely pathogenic, likely pathogenic (dominant), VUS g.129247886G>A g.129529043G>A c.310G>A, c.310G>A, p.Val104Ile, RHO c.310G>A, p.Val104Ile, 1 more item - RHO_000047 heterozygous PubMed: Eisenberger-2013, PubMed: Gao 2019, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, 5 more items - rs144317206 Germline ?, no, yes 1/314 case chromosomes, 2/1204 cases with retinitis pigmentosa - - - Johan den Dunnen, Yoshito Koyanagi
+/., +?/. 37 1 c.316G>A r.(?) p.(Gly106Arg) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247892G>A g.129529049G>A c.316G/A, c.316G>A, c.316G>A; p.(Gly106Arg), RHO c.316G>A, (G106R), RHO c.316G>A, p.G106R, 6 more items - RHO_000048 ACMG PS1, PM2, PM5, PM1, PP2, PP5, heterozygous, heterozygous, individual solved, variant causal, 1 more item PubMed: Bareil 1999, PubMed: Bravo-Gil 2017, PubMed: Budu 2000, PubMed: Colombo-2020, 14 more items 13038 rs104893773 De novo, Germline, Unknown ?, yes 1/1204 cases with retinitis pigmentosa, 2/258 - - - Johan den Dunnen, Nereida Bravo Gil, Yoshito Koyanagi
+/. 1 1 c.316G>M r.(?) p.(Gly106Arg) - pathogenic g.129247892G>M - p.Gly106Arg - RHO_000205 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - LOVD
+/., +?/. 6 1 c.316G>T r.(?) p.(Gly106Trp) - likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.129247892G>T g.129529049G>T (Gly106Trp)‡, 316G>T, RHO G610T, G106W - RHO_000108 heterozygous PubMed: Mezer-2006, PubMed: Sohocki 2001, PubMed: Sullivan 2006, PubMed: Sung 1991 - - Germline yes - - - - Julia Lopez
+/., +?/. 2 1 c.317G>C r.(?) p.(Gly106Ala) ACMG likely pathogenic (dominant), pathogenic g.129247893G>C g.129529050G>C RHO c.317G>C, p.(G106R), RHO p.G106A - RHO_000244 error in annotation, c.317G>C causes p.(Gly106Ala) and not p.(Gly106Arg), heterozygous PubMed: Xiao 2019, PubMed: Xiao-2021 - - Unknown ? - - - - LOVD
+/. 1 1 c.318G>A r.(=) p.(=) - pathogenic g.129247894G>A - 318G>A(Gly106Arg) - RHO_000148 - PubMed: Sullivan 2006 - - Germline yes - - - - Julia Lopez
?/. 1 - c.319C>T r.(?) p.(Pro107Ser) - VUS g.129247895C>T g.129529052C>T - - RHO_000049 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 1 1 c.325G>A r.(?) p.(Gly109Arg) - likely pathogenic (dominant) g.129247901G>A g.129529058G>A RHO G to A transition in codon 109, substitution of glycine with arginine - RHO_000276 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Goliath 1998 - - Germline yes - - - - LOVD
+/., +?/. 7 1 c.328T>C r.(?) p.(Cys110Arg) - likely pathogenic, likely pathogenic (dominant), pathogenic g.129247904T>C g.129529061T>C c.328T>C, RHO c.328T>C, p.C110R, RHO Cys110Arg - RHO_000125 heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Jauregui 2020, PubMed: Panneman 2023, PubMed: Taylor 2017, PubMed: To 2004 - - Germline, Unknown ? - - - - Daan Panneman
+/., +?/. 13 1 c.329G>A r.(?) p.(Cys110Tyr) - likely pathogenic (dominant), pathogenic (dominant) g.129247905G>A g.129529062G>A c.329G>A, RHO C110Y, RHO codon: 110, sequence: TGC - TAC, protein: Cys-Tyr, RHO Cys110Tyr, 1 more item - RHO_000250 heterozygous, 2 more items PubMed: Colombo-2020, PubMed: Dryja 1992, PubMed: Krebs_2010, PubMed: Milla 1998, 1 more item - rs104893787 Germline, In vitro (cloned), Unknown ?, yes - - - - LOVD
+?/. 2 - c.329G>C r.(?) p.(Cys110Phe), p.(Cys110Ser) - likely pathogenic (dominant) g.129247905G>C g.129529062G>C RHO codon: 110, sequence: TGC-TCC, protein: Cys-Phe, RHO p.C110S - RHO_000265 heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Fuchs 1994, PubMed: Yang 2014 - - Germline, Unknown ?, yes - - - - LOVD
+/. 2 1 c.329G>T r.(?) p.(Cys110Phe) - pathogenic, pathogenic (dominant) g.129247905G>T - 329G>T - RHO_000109 Disulfide bond PubMed: Sohocki 2001, PubMed: Sullivan 2006 - - Germline yes - - - - Julia Lopez
?/. 1 - c.332A>G r.(?) p.(Asn111Ser) - VUS g.129247908A>G - RHO(NM_000539.3):c.332A>G (p.N111S) - RHO_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 6 1 c.337G>A r.(?) p.(Glu113Lys) - likely pathogenic (dominant) g.129247913G>A g.129529070G>A RHO c.337G>A, p.E113K - RHO_000289 heterozygous PubMed: Reiff 2016 - - Germline yes - - - - LOVD
+?/. 1 1 c.340G>C r.(?) p.(Gly114Arg) - likely pathogenic (dominant) g.129247916G>C - c.340G>C - RHO_000251 - PubMed: Liu-2020 - - Germline - - - - - LOVD
+?/. 4 - c.341G>A r.(?) p.(Gly114Asp) - likely pathogenic, likely pathogenic (dominant) g.129247917G>A g.129529074G>A RHO codon: 114, sequence: GGC-GAC, protein: Gly-Asp - RHO_000135 heterozygous PubMed: Stone 2017, PubMed: Vaithinathan 1994 - - Germline yes - - - - LOVD
+?/. 5 - c.341G>T r.(?) p.(Gly114Val) - likely pathogenic (dominant) g.129247917G>T g.129529074G>T RHO GGC to GTC, Gly114Val - RHO_000277 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Dryja 2000 - - Germline yes - - - - LOVD
+/. 1 1 c.341_343del r.(?) p.(Gly114_Phe115delinsVal) - pathogenic g.129247917_129247919del - 341_343del (8-bp del) (p.341_343del) - RHO_000206 - PubMed: Bunge_1993 - - Unknown - - - - - LOVD
-/., -?/. 3 1 c.360C>T r.(=), r.(?) p.(=), p.(Gly120=) - benign, likely benign g.129247936C>T g.129529093C>T RHO(NM_000539.3):c.360C>T (p.G120=) - RHO_000013 VKGL data sharing initiative Nederland PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - Julia Lopez, VKGL-NL_Nijmegen, VKGL-NL_AMC
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