All variants in the RP9 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_203288.1 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

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     
?/. _1_9_ c.-18_*437{2} r.? p.? - VUS g.(?_33134409)_(33185977_33192312) - chr7:33134841-33185981 - RP9_000025 variant identified in 5 unrelated patients PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
?/. - c.17G>T r.(?) p.(Gly6Val) - VUS g.33148968C>A g.33109356C>A - - RP9_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.34G>A r.(?) p.(Ala12Thr) - likely benign g.33148951C>T - RP9(NM_203288.2):c.34G>A (p.A12T) - RP9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.35C>G r.(?) p.(Ala12Gly) - likely benign g.33148950G>C g.33109338G>C RP9(NM_203288.1):c.35C>G (p.A12G) - RP9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.44C>T r.(?) p.(Ala15Val) ACMG VUS g.33148941G>A g.33109329G>A - - RP9_000020 ACMG PM2, BS2, BP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen
?/. - c.67G>A r.(?) p.(Glu23Lys) - VUS g.33148918C>T - RP9(NM_203288.1):c.67G>A (p.E23K) - RP9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.111C>T r.(?) p.(His37=) - benign g.33148874G>A g.33109262G>A RP9(NM_203288.2):c.111C>T (p.H37=) - RP9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.129G>T r.(?) p.(Gln43His) - VUS g.33148856C>A g.33109244C>A - - RP9_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. - c.129G>T r.(?) p.(Gln43His) - likely pathogenic g.33148856C>A g.33109244C>A - - RP9_000011 - PubMed: Maeda 2018 - - Germline - - - - - LOVD
-?/. - c.152+13C>T r.(=) p.(=) - likely benign g.33148820G>A - RP9(NM_203288.2):c.152+13C>T - RP9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.152+18G>A r.(=) p.(=) - likely benign g.33148815C>T - RP9(NM_203288.2):c.152+18G>A - RP9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.156C>T r.(?) p.(Tyr52=) - benign g.33140170G>A g.33100558G>A RP9(NM_203288.2):c.156C>T (p.Y52=) - RP9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.182A>G r.(?) p.(Lys61Arg) - VUS g.33140144T>C g.33100532T>C - - RP9_000010 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. - c.216A>G r.(?) p.(Pro72=) - benign g.33139016T>C g.33099404T>C RP9(NM_203288.2):c.216A>G (p.P72=) - RP9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.235C>T r.(?) p.(His79Tyr) - VUS g.33138997G>A g.33099385G>A RP9(NM_203288.1):c.235C>T (p.H79Y) - RP9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.237C>T r.(?) p.(His79=) - likely benign g.33138995G>A - RP9(NM_203288.1):c.237C>T (p.H79=) - RP9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.249T>C r.(?) p.(Phe83=) - likely benign g.33138983A>G - RP9(NM_203288.2):c.249T>C (p.F83=) - RP9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.265A>G r.(?) p.(Thr89Ala) - VUS g.33138967T>C g.33099355T>C - - RP9_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs764812236 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.302A>G r.(?) p.(Lys101Arg) - VUS g.33138930T>C g.33099318T>C RP9(NM_203288.1):c.302A>G (p.K101R) - RP9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.314-9C>T r.(=) p.(=) - benign g.33136983G>A g.33097371G>A RP9(NM_203288.2):c.314-9C>T - RP9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.314-9C>T r.(=) p.(=) - VUS g.33136983G>A g.33097371G>A - - RP9_000002 - PubMed: Xu 2014 - rs6462460 Germline - 1/314 case chromosomes - - - LOVD
?/. - c.320G>A r.(?) p.(Arg107His) - VUS g.33136968C>T - - - RP9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.396G>C r.(?) p.(Gln132His) - VUS g.33136892C>G g.33097280C>G - - RP9_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1198 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. - c.410A>T r.(?) p.(His137Leu) - pathogenic g.33136162T>A g.33096550T>A - - RP9_000021 - PubMed: Watson 2014 - - Germline - - - - - LOVD
+?/. - c.410A>T r.(?) p.(His137Leu) - likely pathogenic g.33136162T>A g.33096550T>A RP9 c.410A>T, H137L - RP9_000021 heterozygous; segregation is a strong suggestion of causality, but there is doubt - the original His137Leu variant may be a paralogous variant (concurrent sequence from a gene and a pseudogene) and no additional mutations have been reported to segregate with disease PubMed: Keen 2002 - - Germline yes - - - - LOVD
+/. 5 c.436C>T r.(?) p.(Arg146*) - pathogenic (dominant) g.33136136G>A - c.436C>T - RP9_000026 - PubMed: Colombo-2020 - rs1426378506 Germline - - - - - LOVD
?/. - c.448C>T r.(?) p.(Arg150Ter) - VUS g.33136124G>A g.33096512G>A - - RP9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 5 c.448C>T r.(?) p.(Arg150*) - likely pathogenic (dominant) g.33136124G>A - c.448C>T - RP9_000018 - PubMed: Liu-2020 - - Germline - - - - - LOVD
-/. - c.459G>A r.(?) p.(Lys153=) - benign g.33136113C>T g.33096501C>T RP9(NM_203288.2):c.459G>A (p.K153=) - RP9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.463G>A r.(?) p.(Val155Ile) - benign g.33136109C>T g.33096497C>T RP9(NM_203288.1):c.463G>A (p.V155I), RP9(NM_203288.2):c.463G>A (p.V155I) - RP9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.463G>A r.(?) p.(Val155Ile) - benign g.33136109C>T g.33096497C>T RP9(NM_203288.1):c.463G>A (p.V155I), RP9(NM_203288.2):c.463G>A (p.V155I) - RP9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 6 c.511_512delGA r.(?) p.(Glu171Argfs*2) ACMG likely pathogenic g.33095388_33095389del g.33095388_33095389del RP9 c.511_512delGA, p.Glu171ArgfsX2, heterozygous - RP9_000024 - PubMed: Sun 2020 - - Unknown ? - - - - LOVD
?/. - c.620G>A r.(?) p.(Arg207Gln) - VUS g.33134892C>T g.33095280C>T - - RP9_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs558009860 Germline - 2/1203 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 6 c.629A>G r.(?) p.(Lys210Arg) - VUS g.33134883T>C g.33095271T>C - - RP9_000001 - PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 6 c.629A>G r.(?) p.(Lys210Arg) - benign g.33134883T>C - 629A>G - RP9_000001 .73/.23 in white subjects PubMed: Sullivan 2006 - - Germline no - - - - Julia Lopez
?/. - c.635C>T r.(?) p.(Ser212Phe) - VUS g.33134877G>A g.33095265G>A - - RP9_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
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