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.

61 entries on 1 page. Showing entries 1 - 61.
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+/. 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
+/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (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 RPN-316 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband 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 RPN-196 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband's father's cousin M - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) 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 RPN-572 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (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 RPN-573 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) 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 RPN-575 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) 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-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
+/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (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 RPN-316 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband 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 RPN-196 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, proband's father's cousin M - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) 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 RPN-572 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (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 RPN-573 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) 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 RPN-575 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown ACMG pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(R681C) - SNRNP200_000008 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 19142 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown ACMG pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.(R681C) - SNRNP200_000008 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 19998 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
?/. - c.2041C>T r.(?) p.(Arg681Cys) Unknown ACMG VUS g.96958829G>A g.96293091G>A SNRNP200 c.C2041T, p.R681C - SNRNP200_000008 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 160 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic (dominant) g.96958829G>A - c.2041C>T - SNRNP200_000008 - PubMed: Colombo-2020 - rs959069360 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 16 c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.R681C - SNRNP200_000008 heterozygous PubMed: Benaglio 2011 - - Germline yes - - - - DNA SEQ-NG-R, SEQ blood next-generation sequencing of pooled samples retinal disease 001-303 PubMed: Benaglio 2011 - M - - North American - - - - 1 LOVD
+?/. 16 c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.R681C - SNRNP200_000008 heterozygous PubMed: Benaglio 2011 - - Germline yes - - - - DNA SEQ-NG-R, SEQ blood next-generation sequencing of pooled samples retinal disease 218-456 PubMed: Benaglio 2011 - M - - North American - - - - 1 LOVD
+?/. 16 c.2041C>T r.(?) p.(Arg681Cys) Paternal (confirmed) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.R681C - SNRNP200_000008 heterozygous PubMed: Benaglio 2011 - - Germline yes - - - - DNA SEQ-NG-R, SEQ blood next-generation sequencing of pooled samples retinal disease 218-480 PubMed: Benaglio 2011 - F - - North American - - - - 1 LOVD
+?/. 16 c.2041C>T r.(?) p.(Arg681Cys) Paternal (confirmed) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.R681C - SNRNP200_000008 heterozygous PubMed: Benaglio 2011 - - Germline yes - - - - DNA SEQ-NG-R, SEQ blood next-generation sequencing of pooled samples retinal disease 226-1952 PubMed: Benaglio 2011 - M - - North American - - - - 1 LOVD
+?/. 16 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: Benaglio 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-R, SEQ blood next-generation sequencing of pooled samples retinal disease 001-046 PubMed: Benaglio 2011 - - - - North American - - - - 1 LOVD
+?/. 16 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: Benaglio 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-R, SEQ blood next-generation sequencing of pooled samples retinal disease 001-061 PubMed: Benaglio 2011 - - - - North American - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Maternal (confirmed) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681His - SNRNP200_000008 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD565-02 PubMed: Bowne 2013 family UTAD565, individual 02 F - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Maternal (confirmed) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681His - SNRNP200_000008 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD565-01 PubMed: Bowne 2013 family UTAD565, individual 01 F - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681His - SNRNP200_000008 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD565-00 PubMed: Bowne 2013 family UTAD565, individual 00 F - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681His - SNRNP200_000008 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD728-01 PubMed: Bowne 2013 family UTAD728, individual 01 F - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681His - SNRNP200_000008 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD728-02 PubMed: Bowne 2013 family UTAD728, individual 02 M - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681His - SNRNP200_000008 heterozygous PubMed: Bowne 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD728-03 PubMed: Bowne 2013 family UTAD728, individual 03 M - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681Cys - SNRNP200_000008 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 1 PubMed: Yusuf 2019 - - - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681Cys - SNRNP200_000008 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 2 PubMed: Yusuf 2019 - - - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681Cys - SNRNP200_000008 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 4 PubMed: Yusuf 2019 - - - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) - likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C>T, p.Arg681Cys - SNRNP200_000008 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 9 PubMed: Yusuf 2019 - - - - - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681Cys) Paternal (inferred) ACMG likely pathogenic g.96958829G>A g.96293091G>A SNRNP200 c.2041C > T, p.(R681C) - SNRNP200_000008 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 13663_II:1 PubMed: Wang 2022 family 13663, individual II:1; 2-generation family, 3 affected F - China Chinese - - - - 1 LOVD
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A - c.2041C>T - SNRNP200_000008 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A - c.2041C>T - SNRNP200_000008 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 16 c.2041C>T r.(?) p.(Arg681Cys) Unknown - pathogenic g.96958829G>A - c.2041C>T - SNRNP200_000008 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.2041C>T r.(?) p.(Arg681Cys) Parent #1 ACMG pathogenic (dominant) g.96958829G>A g.96293091G>A - - SNRNP200_000008 ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-15 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
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