Full data view for gene RS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000330.3 transcript reference sequence.

2408 entries on 25 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3i_6_ c.(184+1_185-1)_(*2316_?)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(?_18657808)_(18665453_18674772)del g.(?_18639688)_(18647333_18656652)del ex4-6del - RS1_000485 - PubMed: Gao 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam23 PubMed: Gao 2021 family, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+?/. 5i_6_ c.(522+1_523-1)_(*2316_?)del r.spl p.(?) Parent #1 - likely pathogenic g.(?_18657808)_(18660277_18662549)del g.(?_18639688)_(18642157_18644429)del RS1, variant 1 :Deletion exon 6 - RS1_000011 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 170 PubMed: Weisschuh 2020 Filing key number: 67, retinoschisis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 5i_6_ c.(522+1_523-1)_(*2316_?)del r.spl p.(?) Parent #1 - likely pathogenic g.(?_18657808)_(18660277_18662549)del g.(?_18639688)_(18642157_18644429)del RS1, variant 1 :Deletion exon 6 - RS1_000011 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA MLPA blood MLPA retinal disease 171 PubMed: Weisschuh 2020 Filing key number: 67, retinoschisis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. _1_1i c.-2577_52+260del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.18689879_18692767del g.18671759_18674647del [-5303_-3784del; -2579_52+258del] - RS1_000198 fragment cloned PubMed: Huopaniemi 2000 - - Germline yes - - - - DNA PCR, Southern - - RS1 FamRS305 PubMed: Huopaniemi 2000 multi-generation family, 17 affected males M no Denmark - - - - - 17 Johan den Dunnen
+?/. _1_1i c.-1758_52+2664del r.0? p.0? Unknown - likely pathogenic g.18687473_18691946del g.18669353_18673826del c.(-35)-1723_c.51+2664del4472 - RS1_000324 error in annotation, exon 1 is ending on nucleotide 52 PubMed: D'Souza - - Unknown ? - - - - DNA SEQ - - retinal disease 645 PubMed: D�Souza Patient #645 M - (United States) - - - - - 1 LOVD
+/. _1_1i c.-1492_53-421del r.0? p.0? Maternal (inferred) ACMG pathogenic g.18676206_18691680del g.18658086_18673560del del ex1 - RS1_000422 - PubMed: Chen 2020 - - Germline/De novo (untested) ? 1/90 cases RS - - - DNA SEQ, SEQ-NG blood Sanger-DNA sequencing of RS1 and targeted next-generation sequencing retinal disease 1 PubMed: Chen 2020 no patient numbering in the paper, numbers given consecutively; actual number in table does not match number of patients in text (91 vs 90) M - China - - - - - 1 LOVD
?/. 1 c.(?_-473)_(17+1_?)del r.(?) p.? Unknown - VUS g.18690171_18690661del - exon 1 deletion - RS1_000278 Check also: Bowles 2011 PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 13 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 15 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 19 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 20 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 23 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del exon 1 deletion - RS1_000010 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease CEI-017 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del exon 1 deletion - RS1_000010 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease KEC-016 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del exon 1 deletion - RS1_000010 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-324 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
?/. _1_2i c.(?_-35)_(78+1_79-1)del r.0? p.0? Maternal (inferred) - VUS g.(18674879_18675759)_(18690223_?)del g.(18656759_18657639)_(18672103_?)del RS1 nucleotide 1, protein 1:exon1del, p.? - RS1_000307 hemizygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 1 PubMed: Hull 2020 - - - New Zealand white - - - - 1 LOVD
?/. _1_2i c.(?_-35)_(78+1_79-1)del r.0? p.0? Maternal (inferred) - VUS g.(18674879_18675759)_(18690223_?)del g.(18656759_18657639)_(18672103_?)del RS1 nucleotide 1, protein 1:exon1del, p.? - RS1_000307 hemizygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 2 PubMed: Hull 2020 - - - New Zealand Maori - - - - 1 LOVD
+?/. _1_3i c.(?_-35)_(184+1_185-1)del r.0? p.0? Maternal (inferred) - likely pathogenic (maternal) g.(18665453_18674772)_(18690223_?)del g.(18647333_18656652)_(18672103_?)del E1-3del - RS1_000123 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, PCRq - hereditary eye disease enrichment panel (HEDEP), quantitative fluorescence PCR (QF-PCR) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1, (1-?_52+?)del - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex4-5, (185-?_522+?)del - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1-4, (1-?_326+?)del - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del [35T>A;52+5G>C] - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.4 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_3i c.(?_-35)_(184+1_185-1)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(18665453_18674772)_(18779695_18797127)del g.(18647333_18656652)_(18761577_18779009)del ex1-3del - RS1_000123 - PubMed: Gao 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam13 PubMed: Gao 2021 family, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-35)_(326+1_327-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18665453_18674772)_(18690223_?)del g.(18647333_18656652)_(18672103_?)del - - RS1_000123 ACMG PVS1, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var108 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+?/. _1_6_ c.(?_-35)_(*2316_?)del r.0 p.0 Parent #1 - likely pathogenic g.(?_18657808)_(18690223_?)del g.(?_18639688)_(18672103_?)del 170bp deletion Xp22.13 - RS1_000000 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. _1_6_ c.(?_-35)_(*2316_?)del r.0 p.0 Unknown - likely pathogenic g.(?_18657808)_(18690223_?)del g.(?_18639688)_(18672103_?)del - - RS1_000023 large deletion chrX (p22.2-p22.13) including OFD1 and RS1 PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat65 PubMed: Bravo-Gil 2017 patient F - Spain - - - - - 1 Nereida Bravo Gil
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 deletion upto 1 kb 5' ATG PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Eksandh 2005 - - Germline - - - - - DNA PCR - - RS1 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Eksandh 2005 14 affecteds M - Sweden - - - - - 14 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Mashima 1999, PubMed: Shinoda 2000 - - Germline - - - - - DNA SSCA - - RS1 ?;Pat2 PubMed: Mashima 1999, PubMed: Shinoda 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Shinoda 2000 - - Germline - - - - - DNA SSCA - - RS1 Pat1 PubMed: Shinoda 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - - - - Germline - - - - - DNA SEQ - - RS1 - - - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_3i c.(?_-35)_(184+1_185-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18665453_18674772)_(18690223_?)del g.(18647333_18656652)_(18672103_?)del - - RS1_000123 - PubMed: Yu 2001 - - Germline - - - - - DNA PCR, Southern - - RS1 - PubMed: Yu 2001 - ? - China - - - - - 1 Johan den Dunnen
+/. _1_3i c.(?_-35)_(184+1_185-1)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(18665453_18674772)_(18779695_18797127)del g.(18647333_18656652)_(18761577_18779009)del - - RS1_000123 136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9) PubMed: Huopaniemi - - Germline yes - - - - DNA PCR, Southern - - RS1 FamRS315 PubMed: Huopaniemi 2000 family, 2 affected sibs M no Denmark - - - - - 2 Johan den Dunnen
?/. _1 - r.? p.? Maternal (confirmed) - VUS g.18693972_18695491del g.18675852_18677371del [-5303_-3784del;-2579_52+258del] - RS1_000308 fragment cloned PubMed: Huopaniemi 2000 - - Germline - - - - - DNA PCR, Southern - - RS1 FamRS305 PubMed: Huopaniemi 2000 multi-generation family, 17 affected males M no Denmark - - - - - 17 Johan den Dunnen
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Chen 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease 113040 PubMed: Chen 2014 - M - China - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Fahim 2017 - - Germline/De novo (untested) - - - - - DNA ? - retrospective study retinal disease 1 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del RS1 exon1 deletion - RS1_000010 - PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ, MLPA - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 53 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. _1_6_ c.= r.(=) p.(=) Parent #1 - NA g.= - - - RS1_000000 expression construct in pcDNA3.1, COS-7 cell expression - - - In vitro (cloned) - - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 deletion upto 1 kb 5' ATG PubMed: Chan 2004 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Chan 2004 - M - China - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: Tsang 2007 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Tsang 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: Renner 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Renner 2008 - M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Maternal (inferred) - pathogenic g.18690188T>C g.18672068T>C - - RS1_000093 - PubMed: Mashima 1999 - - Germline - - -MboII - - DNA SSCA - - RS1 - PubMed: Mashima 1999 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Maternal (inferred) - pathogenic (recessive) g.18690188T>C g.18672068T>C - - RS1_000093 - PubMed: Shinoda 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - RS1 Pat3 PubMed: Shinoda 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(Met1?) Maternal (inferred) - pathogenic g.18690188T>A g.18672068T>A - - RS1_000160 not in 100 control chromosomes PubMed: Kim 2006 - - Germline - - -MboII - - DNA SEQ - - RS1 - PubMed: Kim 2006 five affecteds (4 brothers and uncle) M - United States - - - - - 5 Johan den Dunnen
+?/. 1 c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.18690188T>A g.18672068T>A - - RS1_000160 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 954 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 1 c.1A>T r.0? p.(Met1?) Maternal (inferred) - likely pathogenic g.18690188T>A g.18672068T>A RS1 c.1A>T, p.Met1Leu - RS1_000160 - PubMed: Vijayasarathy 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 1 PubMed: Vijayasarathy 2010 - M - (United States) - - - - - 1 LOVD
+?/. - c.1A>T r.0? p.(Met1?) Maternal (inferred) - likely pathogenic g.18690188T>A g.18672068T>A c.1A>T, p.Met1Lle - RS1_000160 error in annotation initiation codon mutations should be annotated p.Met1? PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-304 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. - c.1A>T r.0? p.(Met1?) Maternal (inferred) - likely pathogenic g.18690188T>A g.18672068T>A c.1A>T, p.Met1Lle - RS1_000160 error in annotation initiation codon mutations should be annotated p.Met1? PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-316 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+/. 1 c.1A>T r.(?) p.(Met1?) Unknown ACMG pathogenic (recessive) g.18690188T>A g.18672068T>A [35T>A;52+5G>C] - RS1_000160 ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var1.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(Met1?) Unknown ACMG pathogenic (recessive) g.18690188T>A g.18672068T>A [35T>A;52+5G>C] - RS1_000160 ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var1.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(Met1?) Unknown ACMG pathogenic (recessive) g.18690188T>A g.18672068T>A [35T>A;52+5G>C] - RS1_000160 ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var1.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+?/. - c.2T>A r.(?) p.? Unknown - likely pathogenic g.18690187A>T - - - RS1_000429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.18690187A>G - - - RS1_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.2T>C r.(?) p.(Met1?) Maternal (inferred) - pathogenic g.18690187A>G g.18672067A>G - - RS1_000419 - PubMed: RS-consortium 1998, group 5 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 5 - ? - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.3G>A r.(?) p.(Met1?) Maternal (inferred) - likely pathogenic g.18690186C>T g.18672066C>T c.3G> A (p.M1) in the RS1 gene - RS1_000408 - PubMed: Xiao 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-3 PubMed: Xiao 2016 proband M - China - - - - - 1 LOVD
+?/. - c.3G>A r.(?) p.(Met1?) Maternal (inferred) - likely pathogenic g.18690186C>T g.18672066C>T c.3G> A (p.M1) in the RS1 gene - RS1_000408 - PubMed: Xiao 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-4 PubMed: Xiao 2016 proband's brother M - China - - - - - 1 LOVD
+?/. - c.3G>A r.(?) p.(Met1?) Maternal (inferred) - likely pathogenic g.18690186C>T g.18672066C>T c.3G> A (p.M1) in the RS1 gene - RS1_000408 - PubMed: Xiao 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-1 PubMed: Xiao 2016 proband's maternal cousin M - China - - - - - 1 LOVD
+?/. - c.3G>A r.(?) p.(Met1?) Maternal (inferred) - likely pathogenic g.18690186C>T g.18672066C>T c.3G> A (p.M1) in the RS1 gene - RS1_000408 - PubMed: Xiao 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease III-2 PubMed: Xiao 2016 proband's mother's paternal cousin M - China - - - - - 1 LOVD
+?/. - c.3G>A r.(?) p.(Met1?) Maternal (inferred) - likely pathogenic g.18690186C>T g.18672066C>T c.3G> A (p.M1) in the RS1 gene - RS1_000408 - PubMed: Xiao 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease II-4 PubMed: Xiao 2016 proband's maternal grandfather M - China - - - - - 1 LOVD
+/. - c.3G>A r.(?) p.(Met1?) Unknown ACMG pathogenic (recessive) g.18690186C>T g.18672066C>T - - RS1_000408 ACMG PS1, PP4, PP5, PM2, PM3 PubMed: D'Anna Mardero 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - RS1 Pat6 PubMed: D'Anna Mardero 2024 patient, no family history M - Spain Europe - - - - 1 Johan den Dunnen
+?/. 1 c.3G>T r.(?) p.(Met1?) Unknown - likely pathogenic g.18690186C>A - - - RS1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.3G>T r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.18690186C>A g.18672066C>A (Met1Ile) - RS1_000289 - PubMed: Hahn 2022 - - Germline - - - - - DNA SEQ - - RS1 Var4 PubMed: Hahn 2022 7 patients M - (Belgium);(Netherlands) - - - - - 7 Johan den Dunnen
+/. _1_1i c.(-63_3)_(52+3913_52+4861)del r.0? p.0? Unknown - pathogenic (recessive) g.(18685276_18686224)_(18690186_18690251)del g.(18667156_18668104)_(18672066_18672131)del - arr[GRCh37] Xp22.13(18685276x1,18686224_18690186x0,18690251x1) RS1_000480 - PubMed: Fortunato 2023 - - Germline - - - - - DNA arrayCGH, SEQ - - RS1 Fam7Pat9 PubMed: Fortunato 2023 family, 2 affected M - Italy - - - - - 2 Johan den Dunnen
+/. _1_1i c.(-63_3)_(52+3913_52+4861)del r.0? p.0? Unknown - pathogenic (recessive) g.(18685276_18686224)_(18690186_18690251)del g.(18667156_18668104)_(18672066_18672131)del - arr[GRCh37] Xp22.13(18685276x1,18686224_18690186x0,18690251x1) RS1_000480 - PubMed: Fortunato 2023 - - Germline - - - - - DNA arrayCGH, SEQ - - RS1 Fam7Pat10 PubMed: Fortunato 2023 relative M - Italy - - - - - 1 Johan den Dunnen
-?/. 1 c.7C>G r.(?) p.(Arg3Gly) Unknown - likely benign g.18690182G>C g.18672062G>C RS1(NM_000330.3):c.7C>G (p.(Arg3Gly)) - RS1_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7C>G r.(?) p.(Arg3Gly) Maternal (confirmed) - pathogenic (recessive) g.18690182G>C g.18672062G>C - - RS1_000219 - PubMed: Chowdury 2024 - - Germline - - - - - DNA SEQ - - RS1 Pat2 PubMed: Chowdury 2024 2-generation family, 1 affected, unaffected carrier mother M yes India - - - - - 1 Johan den Dunnen
+?/. - c.14del r.(?) p.(Ile5LysfsTer121) Maternal (confirmed) - likely pathogenic (recessive) g.18690175del g.18672055del 14delT - RS1_000511 - PubMed: Gao 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam5 PubMed: Gao 2021 family, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+/. - c.20del r.(?) p.(Gly7AlafsTer119) Maternal (confirmed) - pathogenic (recessive) g.18690170del g.18672050del - - RS1_000482 - PubMed: Kousal 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam1PatIII1 PubMed: Kousal 2021 3-generation family, 2 affected M - Czech Republic - - - - - 2 Johan den Dunnen
+/. - c.20del r.(?) p.(Gly7AlafsTer119) Maternal (confirmed) - pathogenic (recessive) g.18690170del g.18672050del - - RS1_000482 - PubMed: Kousal 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam1PatIII2 PubMed: Kousal 2021 cousin M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.20del r.(?) p.(Gly7AlafsTer119) Unknown - pathogenic (recessive) g.18690170del g.18672050del - - RS1_000482 - PubMed: Kousal 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam2PatII1 PubMed: Kousal 2021 2-generation family, 1 affected M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 1 c.20del r.(?) p.(Gly7AlafsTer119) Unknown - pathogenic (recessive) g.18690170del g.18672050del - - RS1_000482 ACMG PVS1, PM2, PP3, PP4 PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 patient M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.26del r.(?) p.(Leu9Cysfs*117) Maternal (confirmed) - pathogenic g.18690167del g.18672047del - - RS1_000162 - PubMed: Li 2007, PubMed: Ma 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Li 2007, PubMed: Ma 2008 4-generation family, 4 affecteds, 11 carriers M - China - - - - - 15 Johan den Dunnen
+?/. 1 c.26T>A r.(?) p.(Leu9*) Unknown - likely pathogenic g.18690163A>T g.18672043A>T c.26A>T, p.(Leu9*) - RS1_000296 error in annotation: c.26A>T instead of T>A, hemizygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13749 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 1 c.33_36del r.(?) p.(Leu11Phefs*114) Maternal (inferred) - pathogenic g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: RS-consortium 1998, group 5 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 5 - ? - Germany - - - - - 1 Johan den Dunnen
+?/. 1 c.33_36del r.(?) p.(Leu11Phefs*114) Parent #1 - likely pathogenic g.18690155_18690158del g.18672035_18672038del RS1, variant 1: c.33_36del/p.L11Ffs*114 - RS1_000012 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 187 PubMed: Weisschuh 2020 Filing key number: 70, retinoschisis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 1 c.33_36del r.(?) p.(Leu11Phefs*114) Maternal (inferred) - pathogenic g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: RS-consortium 1998, group 3 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - 1 Johan den Dunnen
+/. - c.33_36del r.(?) p.(Leu11PhefsTer114) Maternal (confirmed) - pathogenic (recessive) g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: Kousal 2021 ClinVar-000098944.7 - Germline - - - - - DNA SEQ - - RS1 Fam3PatIII2 PubMed: Kousal 2021 3-generation family, 2 affected M - Czech Republic - - - - - 2 Johan den Dunnen
+/. - c.33_36del r.(?) p.(Leu11PhefsTer114) Maternal (confirmed) - pathogenic (recessive) g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: Kousal 2021 ClinVar-000098944.7 - Germline - - - - - DNA SEQ - - RS1 Fam3PatII4 PubMed: Kousal 2021 uncle M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.33_36del r.(?) p.(Leu11PhefsTer114) Unknown - pathogenic (recessive) g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: Kousal 2021 ClinVar-000098944.7 - Germline - - - - - DNA SEQ - - RS1 Fam4PatII1 PubMed: Kousal 2021 2-generation family, 1 affected M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.33_36del r.(?) p.(Leu11PhefsTer114) Maternal (confirmed) - pathogenic (recessive) g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: Kousal 2021 ClinVar-000098944.7 - Germline - - - - - DNA SEQ - - RS1 Fam15PatII1 PubMed: Kousal 2021 2-generation family, 1 affected, unaffected carrier mother M - Czech Republic - - - - - 1 Johan den Dunnen
+?/. - c.34_35insGATA r.(?) p.(Leu12ArgfsTer7) Unknown ACMG likely pathogenic (recessive) g.18690154_18690155insTATC g.18672034_18672035insTATC - - RS1_000481 ACMG PVS1, PP4, PM2 PubMed: D'Anna Mardero 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - RS1 Pat8 PubMed: D'Anna Mardero 2024 patient, no family history M - Spain Europe - - - - 1 Johan den Dunnen
?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - VUS g.18690154A>T g.18672034A>T - - RS1_000016 - PubMed: RS-consortium 1998, group 3 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - 1 Johan den Dunnen
+/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - pathogenic g.18690154A>T g.18672034A>T - - RS1_000016 - - - - Germline - - - - - DNA SEQ - - RS1 - - - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 1 c.35T>A r.(?) p.(Leu12His) Parent #1 - NA g.18690154A>T g.18672034A>T - - RS1_000016 expression construct in pcDNA3.1, COS-7 cell expression PubMed: Wang 2002 - - In vitro (cloned) - - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - likely pathogenic g.18690154A>T g.18672034A>T RS1 c.35T>A, p.Leu12His - RS1_000016 - PubMed: Vijayasarathy 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Vijayasarathy 2010 - M - (United States) - - - - - 1 LOVD
+?/. - c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - likely pathogenic g.18690154A>T g.18672034A>T RS1 c.35T>A, p.(Leu12His) - RS1_000016 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 2 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - likely pathogenic g.18690154A>T g.18672034A>T RS1 c.35T>A, p.(Leu12His) - RS1_000016 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 3 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (confirmed) - likely pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (confirmed) - likely pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (confirmed) - likely pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Unknown - likely pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Unknown - likely pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Unknown - likely pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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