Full data view for gene SNRNP200

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014014.4 transcript reference sequence.

423 entries on 5 pages. Showing entries 1 - 100.
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?/. 31i c.? r.(?) p.(?) Parent #1 - VUS g.? - IVS31-9G>A - SNRNP200_000007 no G at 4393-9 PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Arg681Lys - SNRNP200_000007 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease UTAD565 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
-/. - c.51G>T r.(?) p.(Ser17=) Unknown - benign g.96970601C>A g.96304863C>A SNRNP200(NM_014014.5):c.51G>T (p.S17=) - SNRNP200_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>C r.(?) p.(Arg30=) Unknown - likely benign g.96970562C>G g.96304824C>G SNRNP200(NM_014014.4):c.90G>C (p.R30=), SNRNP200(NM_014014.5):c.90G>C (p.R30=) - SNRNP200_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>C r.(?) p.(Arg30=) Unknown - likely benign g.96970562C>G - SNRNP200(NM_014014.4):c.90G>C (p.R30=), SNRNP200(NM_014014.5):c.90G>C (p.R30=) - SNRNP200_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210-11A>T r.(=) p.(=) Unknown - benign g.96969079T>A g.96303341T>A SNRNP200(NM_014014.5):c.210-11A>T - SNRNP200_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.210-5A>G r.spl? p.(?) Unknown ACMG VUS g.96969073T>C g.96303335T>C SNRNP200 c.210-5A>G, p.(?) - SNRNP200_000121 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 467 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. - c.273G>A r.(?) p.(Ser91=) Unknown - likely benign g.96969005C>T g.96303267C>T SNRNP200(NM_014014.5):c.273G>A (p.S91=) - SNRNP200_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>C r.(?) p.(Thr112Pro) Unknown - VUS g.96968944T>G - SNRNP200(NM_014014.4):c.334A>C (p.T112P) - SNRNP200_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+7G>A r.(=) p.(=) Unknown - likely benign g.96968890C>T g.96303152C>T SNRNP200(NM_014014.4):c.381+7G>A - SNRNP200_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461G>A r.(?) p.(Arg154Gln) Unknown - likely benign g.96967375C>T g.96301637C>T SNRNP200(NM_014014.4):c.461G>A (p.R154Q) - SNRNP200_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.575-7G>T r.(spl?) p.(?) Parent #1 - benign g.96966798C>A g.96301060C>A - - SNRNP200_000005 predicted benign PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-?/. - c.578A>G r.(?) p.(Asp193Gly) Unknown - likely benign g.96966788T>C g.96301050T>C SNRNP200(NM_014014.4):c.578A>G (p.D193G), SNRNP200(NM_014014.5):c.578A>G (p.D193G) - SNRNP200_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578A>G r.(?) p.(Asp193Gly) Unknown - likely benign g.96966788T>C g.96301050T>C SNRNP200(NM_014014.4):c.578A>G (p.D193G), SNRNP200(NM_014014.5):c.578A>G (p.D193G) - SNRNP200_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.583A>G r.(?) p.(Ile195Val) Parent #1 - likely pathogenic g.96966783T>C g.96301045T>C SNRNP200, variant 1: c.583A>G/p.I195V - SNRNP200_000134 possibly solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1271 PubMed: Weisschuh 2020 Filing key number: 1088, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.594_597del r.(?) p.(Tyr199Valfs*2) Unknown ACMG pathogenic g.96966771_96966774del g.96301033_96301036del SNRNP200 c.594_597del, p.(Tyr199Valfs*2) - SNRNP200_000135 - PubMed: Rodriguez Munoz 2021 - - De novo yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-301 PubMed: Rodriguez Munoz 2021 family ID fRPN-142, proband M - Spain - - - - - 1 LOVD
+/. - c.594_597del r.(?) p.(Tyr199Valfs*2) Unknown ACMG pathogenic g.96966771_96966774del g.96301033_96301036del SNRNP200 c.594_597del, p.(Tyr199Valfs*2) - SNRNP200_000135 - PubMed: Rodriguez Munoz 2021 - - De novo yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-301 PubMed: Rodriguez Munoz 2021 family ID fRPN-142, proband M - Spain - - - - - 1 LOVD
-?/. - c.705C>T r.(?) p.(Val235=) Unknown - likely benign g.96965091G>A - SNRNP200(NM_014014.5):c.705C>T (p.V235=) - SNRNP200_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728A>G r.(?) p.(Asn243Ser) Unknown - VUS g.96965068T>C g.96299330T>C - - SNRNP200_000059 - 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.732C>T r.(?) p.(Leu244=) Unknown - benign g.96964703G>A g.96298965G>A SNRNP200(NM_014014.5):c.732C>T (p.L244=) - SNRNP200_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.733G>A r.(?) p.(Val245Ile) Unknown - VUS g.96964702C>T g.96298964C>T - - SNRNP200_000111 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP229 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.1071C>T r.(?) p.(Ser357=) Unknown - likely benign g.96964070G>A g.96298332G>A SNRNP200(NM_014014.4):c.1071C>T (p.S357=) - SNRNP200_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1082A>G r.(?) p.(Tyr361Cys) Unknown ACMG VUS g.96964059T>C g.96298321T>C - - SNRNP200_000159 ACMG PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-427 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
?/. - c.1118G>A r.(?) p.(Arg373Gln) Unknown - VUS g.96964023C>T g.96298285C>T - - SNRNP200_000058 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs745786225 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
-?/. 10 c.1159A>G r.(?) p.(Met387Val) Parent #1 - likely benign g.96963419T>C g.96297681T>C - - SNRNP200_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. - c.1159A>G r.(?) p.(Met387Val) Unknown - benign g.96963419T>C g.96297681T>C SNRNP200(NM_014014.4):c.1159A>G (p.M387V), SNRNP200(NM_014014.5):c.1159A>G (p.M387V) - SNRNP200_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159A>G r.(?) p.(Met387Val) Unknown - likely benign g.96963419T>C g.96297681T>C SNRNP200(NM_014014.4):c.1159A>G (p.M387V), SNRNP200(NM_014014.5):c.1159A>G (p.M387V) - SNRNP200_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1203+9C>T r.(=) p.(=) Unknown - benign g.96963366G>A g.96297628G>A SNRNP200(NM_014014.4):c.1203+9C>T, SNRNP200(NM_014014.5):c.1203+9C>T - SNRNP200_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1203+9C>T r.(=) p.(=) Unknown - likely benign g.96963366G>A g.96297628G>A SNRNP200(NM_014014.4):c.1203+9C>T, SNRNP200(NM_014014.5):c.1203+9C>T - SNRNP200_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1367G>C r.(?) p.(Gly456Ala) Unknown - VUS g.96963111C>G g.96297373C>G SNRNP200(NM_014014.5):c.1367G>C (p.G456A) - SNRNP200_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1376A>T r.(?) p.(Glu459Val) Unknown - VUS g.96963102T>A g.96297364T>A - - SNRNP200_000057 - 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
+/. 11 c.1376A>T r.(?) p.(Glu459Val) Unknown - pathogenic (dominant) g.96963102T>A - c.1376A>T - SNRNP200_000057 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.1462C>T r.(?) p.(Leu488Phe) Parent #1 - likely pathogenic g.96962724G>A g.96296986G>A SNRNP200, variant 1: c.1462C>T/p.L488F - SNRNP200_000133 possibly solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 804 PubMed: Weisschuh 2020 Filing key number: 320, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.1469G>A r.(?) p.(Arg490His) Unknown - VUS g.96962717C>T g.96296979C>T SNRNP200(NM_014014.4):c.1469G>A (p.R490H) - SNRNP200_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1484C>T r.(?) p.(Thr495Met) Unknown - likely benign g.96962702G>A - SNRNP200(NM_014014.5):c.1484C>T (p.T495M) - SNRNP200_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1504T>C r.(?) p.(Cys502Arg) Unknown - likely pathogenic g.96962682A>G g.96296944A>G SNRNP200 c.1504T>C, (p.C502R) - SNRNP200_000150 heterozygous PubMed: Zhang 2013 - - Germline yes 0/178 controls - - - DNA SEQ blood - retinal disease ? PubMed: Zhang 2013 71y in the table and 82y in text F - China Chinese - - - - 1 LOVD
?/. - c.1520C>T r.(?) p.(Ala507Val) Unknown - VUS g.96962425G>A g.96296687G>A - - SNRNP200_000056 - 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
+/. 13 c.1520C>T r.(?) p.(Ala507Val) Unknown ACMG pathogenic g.96962425G>A g.96296687G>A SNRNP200 c.1520C>T, p.(A507V) - SNRNP200_000056 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 19756 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
?/. 13 c.1532A>C r.(?) p.(Asn511Thr) Unknown - VUS g.96962413T>G - c.1532A>C:p.N511T - SNRNP200_000144 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+?/. 13 c.1547G>T r.(?) p.(Cys516Phe) Unknown ACMG likely pathogenic g.96962398C>A g.96296660C>A c.1547G>T, p.Cys516Phe - SNRNP200_000120 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 59 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+?/. - c.1547G>T r.(?) p.(Cys516Phe) Paternal (inferred) - likely pathogenic g.96962398C>A g.96296660C>A SNRNP200 c.1547G>T, p.Cys516Phe - SNRNP200_000120 heterozygous PubMed: Yusuf 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - retrospective, case-series study, targeted next-generation sequencing of at least 111 RP genes retinal disease 7 PubMed: Yusuf 2019 sibling of 8 - - - - - - - - 1 LOVD
+?/. - c.1547G>T r.(?) p.(Cys516Phe) Paternal (inferred) - likely pathogenic g.96962398C>A g.96296660C>A SNRNP200 c.1547G>T, p.Cys516Phe - SNRNP200_000120 heterozygous PubMed: Yusuf 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - retrospective, case-series study, targeted next-generation sequencing of at least 111 RP genes retinal disease 8 PubMed: Yusuf 2019 sibling of 7 - - - - - - - - 1 LOVD
+?/. - c.1614T>G r.(?) p.(Ile538Met) Parent #1 - likely pathogenic g.96962331A>C g.96296593A>C - - SNRNP200_000113 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W55-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
?/. - c.1625C>T r.(?) p.(Ala542Val) Unknown - VUS g.96962320G>A - - - SNRNP200_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1625C>T r.(?) p.(Ala542Val) Parent #1 - likely benign g.96962320G>A - Ala542Val - SNRNP200_000095 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RFS048 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
?/. - c.1625C>T r.(?) p.(Ala542Val) Unknown - VUS g.96962320G>A g.96296582G>A SNRNP200 c.1625C>T, p.Ala542Val - SNRNP200_000095 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-188 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1625C>T r.(?) p.(Ala542Val) Paternal (confirmed) - likely pathogenic g.96962320G>A g.96296582G>A SNRNP200 c.1625C>T, p.Ala542Val - SNRNP200_000095 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease RFS048-5420 PubMed: Bowne 2013 family RFS048, individual 5420 F - - - - - - - 1 LOVD
+?/. - c.1625C>T r.(?) p.(Ala542Val) Maternal (inferred) - likely pathogenic g.96962320G>A g.96296582G>A SNRNP200 c.1625C>T, p.Ala542Val - SNRNP200_000095 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease RFS048-4884 PubMed: Bowne 2013 family RFS048, individual 4884 M - - - - - - - 1 LOVD
+?/. - c.1625C>T r.(?) p.(Ala542Val) Maternal (inferred) - likely pathogenic g.96962320G>A g.96296582G>A SNRNP200 c.1625C>T, p.Ala542Val - SNRNP200_000095 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease RFS048-4879 PubMed: Bowne 2013 family RFS048, individual 4879 F - - - - - - - 1 LOVD
?/. - c.1627C>T r.(?) p.(Pro543Ser) Unknown - VUS g.96962318G>A g.96296580G>A - - SNRNP200_000110 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP1641 PubMed: Fernandez-San Jose 2015 family, 4 affected - - Spain - - - - - 4 LOVD
+?/. 13 c.1627C>T r.(?) p.(Pro543Ser) Unknown - likely pathogenic g.96962318G>A - c.1627C>T - SNRNP200_000110 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+?/. - c.1627C>T r.(?) p.(Pro543Ser) Parent #1 - likely pathogenic g.96962318G>A g.96296580G>A SNRNP200, variant 1: c.1627C>T/p.P543S - SNRNP200_000110 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 177 PubMed: Weisschuh 2020 Filing key number: 68, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1631T>C r.(?) p.(Met544Thr) Parent #1 - likely pathogenic g.96962314A>G g.96296576A>G - - SNRNP200_000112 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W59-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. 13 c.1634G>A r.(?) p.(Arg545His) Unknown - likely pathogenic g.96962311C>T - c.1634G>A - SNRNP200_000132 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 13 c.1634G>A r.(?) p.(Arg545His) Unknown - likely pathogenic g.96962311C>T - c.1634G>A - SNRNP200_000132 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. - c.1634G>A r.(?) p.(Arg545His) Both (homozygous) - likely pathogenic g.96962311C>T g.96296573C>T SNRNP200 c.1634G>A, p.(Arg545His) - SNRNP200_000132 homozygous PubMed: Gerth-Kahlert 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease B_II:1 PubMed: Gerth-Kahlert 2019 parents healthy mutation carriers M no Kosovo - - - - - 1 LOVD
?/. - c.1662C>G r.(?) p.(Ser554Arg) Unknown - VUS g.96962283G>C g.96296545G>C SNRNP200 c.1662C>G, p.Ser554Arg - SNRNP200_000129 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2950_004535 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
-/. - c.1671+18T>C r.(=) p.(=) Unknown - benign g.96962256A>G g.96296518A>G SNRNP200(NM_014014.5):c.1671+18T>C - SNRNP200_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1673G>A r.(?) p.(Arg558His) Unknown - VUS g.96961395C>T g.96295657C>T - - SNRNP200_000055 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs761340019 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.1703A>G r.(?) p.(Glu568Gly) Unknown - VUS g.96961365T>C g.96295627T>C - - SNRNP200_000054 - 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.1704A>C r.(?) p.(Glu568Asp) Unknown - VUS g.96961364T>G - - - SNRNP200_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1708A>G r.(?) p.(Thr570Ala) Maternal (inferred) ACMG likely pathogenic g.96961360T>C g.96295622T>C SNRNP200 c.1708A > G, p.(T570A) - SNRNP200_000152 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 6269_II:1 PubMed: Wang 2022 family 6269, individual II:1; 2-generation family, 3 affected F - China Chinese - - - - 1 LOVD
+?/. 14 c.1724T>G r.(?) p.(Leu575Arg) Paternal (inferred) ACMG likely pathogenic g.96961344A>C g.96295606A>C SNRNP200 c.1724 T > G, p.(L575R) - SNRNP200_000151 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 22438_II:1 PubMed: Wang 2022 family 22438, individual II:1; 2-generation family, 2 affected F - China Chinese - - - - 1 LOVD
?/. - c.1763G>T r.(?) p.(Cys588Phe) Unknown - VUS g.96961305C>A g.96295567C>A SNRNP200(NM_014014.5):c.1763G>T (p.C588F) - SNRNP200_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1792C>T r.(?) p.(Arg598Cys) Unknown - VUS g.96961276G>A g.96295538G>A SNRNP200(NM_014014.5):c.1792C>T (p.R598C) - SNRNP200_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1792C>T r.(?) p.(Arg598Cys) Both (homozygous) - VUS g.96961276G>A g.96295538G>A SNRNP200 c.1792C>T, p.Arg598Cys - SNRNP200_000037 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-599 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.1792C>T r.(?) p.(Arg598Cys) Unknown - VUS g.96961276G>A g.96295538G>A c.1792C>T, p.Arg598Cys - SNRNP200_000037 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-599 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.1792C>T r.(?) p.(Arg598Cys) Unknown - VUS g.96961276G>A - SNRNP200(NM_014014.5):c.1792C>T (p.R598C) - SNRNP200_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1871G>A r.(?) p.(Arg624Lys) Unknown - VUS g.96959219C>T g.96293481C>T - - SNRNP200_000103 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12012775 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1871G>A r.(?) p.(Arg624Lys) Parent #1 - likely pathogenic g.96959219C>T g.96293481C>T - - SNRNP200_000103 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6500 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
?/. - c.1873G>A r.(?) p.(Gly625Ser) Unknown - VUS g.96959217C>T g.96293479C>T - - SNRNP200_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1910G>A r.(?) p.(Arg637Gln) Unknown - VUS g.96959180C>T - SNRNP200(NM_014014.4):c.1910G>A (p.R637Q) - SNRNP200_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1951C>T r.(?) p.(Leu651Phe) Unknown ACMG pathogenic g.96959139G>A g.96293401G>A SNRNP200 c.1951C>T, p.(L651F) - SNRNP200_000138 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 114 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
?/. - c.1961C>A r.(?) p.(Thr654Asn) Unknown - VUS g.96959129G>T - SNRNP200(NM_014014.5):c.1961C>A (p.T654N) - SNRNP200_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.1981G>T r.(?) p.(Val661Leu) Parent #1 ACMG likely pathogenic (dominant) g.96959109C>A g.96293371C>A - - SNRNP200_000101 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FAM_022 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+?/. - c.2036+1G>A r.spl p.? Parent #1 - likely pathogenic (dominant) g.96959053C>T g.96293315C>T 2036+1C>A - SNRNP200_000104 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT994 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+/. - c.2036+1G>T r.spl p.? Unknown - pathogenic (dominant) g.96959053C>A g.96293315C>A - - SNRNP200_000109 - PubMed: Xu 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel retinal disease RP311 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
-?/. - c.2040C>T r.(?) p.(Phe680=) Unknown - likely benign g.96958830G>A g.96293092G>A SNRNP200(NM_014014.4):c.2040C>T (p.F680=) - SNRNP200_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A g.96293091G>A - - SNRNP200_000008 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A g.96293091G>A SNRNP200(NM_014014.4):c.2041C>T (p.R681C) - SNRNP200_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A g.96293091G>A - - SNRNP200_000008 - 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.2041C>T r.(?) p.(Arg681Cys) Unknown - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200(NM_014014.4):c.2041C>T (p.R681C) - SNRNP200_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Parent #1 ACMG pathogenic (dominant) g.96958829G>A g.96293091G>A - - SNRNP200_000008 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FAM_023 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown - likely pathogenic g.96958829G>A g.96293091G>A - - SNRNP200_000008 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13003141 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 16 c.2041C>T p.R681C p.(Arg681Cys) Parent #1 - pathogenic (dominant) g.96958829G>A g.96293091G>A 2041G>T - SNRNP200_000008 not in 192 controls PubMed: Coussa 2015 - - Germline - 1/60 cases - - - DNA SEQ - gene panel retinal disease - PubMed: Coussa 2015 index patient - - Canada French-Canadian - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic (dominant) g.96958829G>A g.96293091G>A - - SNRNP200_000008 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP144 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic (dominant) g.96958829G>A g.96293091G>A - - SNRNP200_000008 - PubMed: Xu 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel retinal disease RP230 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - likely pathogenic g.96958829G>A g.96293091G>A - - SNRNP200_000008 - 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
+?/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - likely pathogenic g.96958829G>A g.96293091G>A - - SNRNP200_000008 - 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
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A - c.2041C>T - SNRNP200_000008 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown ACMG pathogenic g.96958829G>A g.96293091G>A c.2041C>T, p.Arg681Cys - SNRNP200_000008 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 60 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown ACMG likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(Arg681Cys) - SNRNP200_000008 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 268 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.R681C - SNRNP200_000008 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 55 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Parent #1 - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200, variant 1: c.2041C>T/p.R681C - SNRNP200_000008 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 215 PubMed: Weisschuh 2020 Filing key number: 76, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Parent #1 - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200, variant 1: c.2041C>T/p.R681C - SNRNP200_000008 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 216 PubMed: Weisschuh 2020 Filing key number: 76, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Parent #1 - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200, variant 1: c.2041C>T/p.R681C - SNRNP200_000008 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 217 PubMed: Weisschuh 2020 Filing key number: 76, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Maternal (confirmed) ACMG pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(Arg681Cys) - SNRNP200_000008 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RP-198 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband's father's sister 1 F - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Maternal (confirmed) ACMG pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(Arg681Cys) - SNRNP200_000008 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RP-199 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband's father's sister 2 F - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Maternal (confirmed) ACMG pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(Arg681Cys) - SNRNP200_000008 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RP-200 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband's father M - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Maternal (confirmed) ACMG pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(Arg681Cys) - SNRNP200_000008 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RP-201 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband's father's brother M - Spain - - - - - 1 LOVD
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