Unique variants in the RS1 gene

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.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 - c.= r.(=) p.(=) - NA g.= - - - RS1_000000 expression construct in pcDNA3.1, COS-7 cell expression - - - In vitro (cloned) - - - - - Johan den Dunnen
+?/. 2 - c.? c.?, r.? p.? - likely pathogenic g.? - del ex2 - USP9X_000005 large deletion chrX (p22.2-p22.13) including OFD1 and RS1 PubMed: Bravo-Gil 2017, PubMed: Stone 2017 - - Germline - - - - - Nereida Bravo Gil
?/. 1 1 c.(?_-473)_(17+1_?)del r.(?) p.? - unclassified g.18690171_18690661del - exon 1 deletion - RS1_000278 Check also: Bowles 2011 PubMed: Avela 2019 - - Germline - - - - - LOVD
+/? 7 1 c.(?_-1)_(52+1_?)del r.0? p.0? - pathogenic g.18690136_18690189del - - - RS1_000010 2 more items PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Eksandh 2005, PubMed: Shinoda, 2 more items - - Germline - - - - - Johan den Dunnen, Dorothy Trump
+/? 2 1_3 c.(?_-1)_(184+1_?)del r.0? p.0? - pathogenic g.18674772_18690189del - - - RS1_000123 2 more items PubMed: Huopaniemi, PubMed: Yu 2001 - - Germline - - - - - Johan den Dunnen
+/+ 7 - c.0 r.0 p.0 - pathogenic g.0 - - - RS1_000000 1 more item - - - Germline - - - - - Jayamuruga Pandian Arunachalam
+/?, +?/. 4 0 c.? r.(?), r.? p.? - likely pathogenic, pathogenic g.? - 170bp deletion Xp22.13, del ex2, breakpoint not determined, R123X - RS1_000000, USP9X_000005 reported by RS consortium but unknown description, unknown variant; no paternal X-chromosome PubMed: Holtan 2020, PubMed: Kim 2009, PubMed: RS-consortium 1998; group 5, PubMed: Renner 2008, 1 more item - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy, Johan den Dunnen
+/? 3 1 c.1-?_52+?del r.0? p.0? - pathogenic g.18690137_18690188del g.18672017_18672068del - - RS1_000010 2 more items PubMed: Chan 2004, PubMed: Renner 2008, PubMed: Tsang 2007 - - Germline - - - - - Johan den Dunnen
+/? 1 1 c.1A>G r.(?) p.(Met1?) - pathogenic g.18690188T>C g.18672068T>C - - RS1_000093 - PubMed: Mashima 1999 - - Germline - - -MboII - - Johan den Dunnen
+/?, +?/. 2 1 c.1A>T r.(?) p.(Met1?) - likely pathogenic, pathogenic g.18690188T>A g.18672068T>A - - RS1_000160 not in 100 control chromosomes PubMed: Kim 2006, PubMed: Stone 2017 - - Germline - - -MboII - - Johan den Dunnen
+?/. 1 - c.3G>T r.(?) p.(Met1?) - likely pathogenic g.18690186C>A - - - RS1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.7C>G r.(?) p.(Arg3Gly) - 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 - - - - - VKGL-NL_Leiden
+/? 1 1 c.26del r.(?) p.(Leu9Cysfs*117) - pathogenic g.18690167del g.18672047del - - RS1_000162 - PubMed: Li 2007, PubMed: Ma 2008 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.26T>A r.(?) p.(Leu9*) - 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 ? - - - - LOVD
+/? 1 1 c.33_36del r.(?) p.(Leu11Phefs*114) - pathogenic g.18690155_18690158del g.18672035_18672038del - - RS1_000012 - PubMed: RS-consortium 1998, group 5 - - Germline - - - - - Johan den Dunnen
+/?, ?/? 3 1 c.35T>A r.(?) p.(Leu12His) - NA, pathogenic, VUS g.18690154A>T g.18672034A>T - - RS1_000016 expression construct in pcDNA3.1, COS-7 cell expression PubMed: RS-consortium 1998, group 3, PubMed: Wang 2002 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Dorothy Trump
?/. 1 - c.37C>T r.(?) p.(Leu13Phe) - VUS g.18690152G>A - RS1(NM_000330.3):c.37C>T (p.L13F) - RS1_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 1 c.38T>C r.(?) p.(Leu13Pro) - pathogenic g.18690151A>G g.18672031A>G - - RS1_000109 - PubMed: Hiriyanna 1999 - - Germline - - - - - Johan den Dunnen
+/? 3 1i c.52+1G>A r.spl? p.? - pathogenic g.18690136C>T g.18672016C>T - - RS1_000013 - PubMed: Mashima 1999, PubMed: RS-consortium 1998, group 2, PubMed: RS-consortium 1998, group 3 - - Germline - - +MboII - - Johan den Dunnen
+/?, ?/? 2 1i c.52+1G>T r.spl? p.? - pathogenic, VUS g.18690136C>A g.18672016C>A - - RS1_000014 - PubMed: Lamey 2010, PubMed: RS-consortium 1998, group 3 - - Germline - - - - - Johan den Dunnen
+/? 1 1i c.52+2dup r.spl? p.? - pathogenic g.18690135dup g.18672015dup - - RS1_000015 - PubMed: RS-consortium 1998, group 3 - - Germline - - - - - Johan den Dunnen
+/? 4 1i c.52+2T>C r.spl? p.? - pathogenic g.18690135A>G g.18672015A>G - - RS1_000128 - PubMed: Li 2007, PubMed: Ma 2008, PubMed: Stanga 2001, PubMed: Tsang 2007 - - Germline - - - - - Johan den Dunnen, Dorothy Trump
+?/., ?/. 4 - c.52+3A>G r.spl? p.(?), p.? - likely pathogenic, VUS g.18690134T>C g.18672014T>C Allele 1 c.52+3A>G, Allele 2 not applicable - RS1_000243 hemizygous, VKGL data sharing initiative Nederland PubMed: Khan 2019 - - CLASSIFICATION record, Germline/De novo (untested) ? - - - - VKGL-NL_Nijmegen
?/? 1 1i c.52+5G>C r.spl? p.? - VUS g.18690132C>G g.18672012C>G - - RS1_000017 - PubMed: RS-consortium 1998, group 3 - - Germline - - - - - Johan den Dunnen
+/? 1 1i c.53-34A>G r.(=) p.(=) - pathogenic g.18675819T>C g.18657699T>C IVS1-34A>G - RS1_000179 - PubMed: Gerth 2008 - - Germline - - - - - Johan den Dunnen
+/? 3 2 c.53-?_78+?del r.(?) p.(Ala18Glyfs*2) - pathogenic g.18675760_18675785del g.18657640_18657665del - - RS1_000018 2 more items PubMed: Hewitt 2005, PubMed: Rodriguez 1998, PubMed: RS-consortium 1998, group 4, 5 - - Germline - - - - - Johan den Dunnen
+/? 2 2 c.61G>T r.(?) p.(Gly21*) - pathogenic g.18675777C>A g.18657657C>A - - RS1_000137 - PubMed: Hewitt 2005 - - Germline - - +DraIII - - Johan den Dunnen
+/? 1 2 c.68C>A r.(?) p.(Ser23*) - pathogenic g.18675770G>T g.18657650G>T - - RS1_000019 - PubMed: RS-consortium 1998, group 4, 5 - - Germline - - - - - Johan den Dunnen
+/? 1 2 c.76G>T r.(?) p.(Glu26*) - pathogenic g.18675762C>A g.18657642C>A - - RS1_000020 - PubMed: RS-consortium 1998, group 4 - - Germline - - +MaeI - - Johan den Dunnen
+/? 1 2 c.78G>C r.(?) p.(Glu26Asp) - pathogenic g.18675760C>G g.18657640C>G - - RS1_000142 - PubMed: Pimenides 2005 - - Germline - - +MaeI - - Johan den Dunnen
+/? 1 2i c.78+1G>A r.spl? p.? - pathogenic g.18675759C>T g.18657639C>T - - RS1_000152 - PubMed: Inoue 2002 - - Germline - - - - - Johan den Dunnen
+/? 1 2i c.78+1G>C r.spl? p.? - pathogenic g.18675759C>G g.18657639C>G - - RS1_000155 - PubMed: Lesch 2008, PubMed: Lesch 2008 - - Germline - - +AluI - - Viktoria Szabo
+/? 1 2i c.78+1G>T r.spl? p.? - pathogenic g.18675759C>A g.18657639C>A - - RS1_000169 not in 108 control chromosomes PubMed: Kim 2009;Kim, ASHG2007 P1124 - - Germline - - - - - Johan den Dunnen
+/? 1 2i c.78+5G>A r.spl? p.? - pathogenic g.18675755C>T g.18657635C>T - - RS1_000170 not in 108 control chromosomes PubMed: Kim 2009;Kim, ASHG2007 P1124 - - Germline - - - - - Viktoria Szabo
?/. 1 - c.78+380T>C r.(=) p.(=) - VUS g.18675380A>G g.18657260A>G - - RS1_000209 - - - - Germline - - - - - Yu Sun
+/? 2 2i c.79-2A>G r.spl? p.? - pathogenic g.18674880T>C g.18656760T>C - - RS1_000001 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005, PubMed: Sauer - - Germline - - -PstI - - Johan den Dunnen, Dorothy Trump
+/? 7 3 c.79-?_184+?del r.(?) p.(Asp27Asnfs*64) - pathogenic g.18674773_18674878del g.18656653_18656758del - - RS1_000021 2 more items PubMed: Hewitt 2005, PubMed: RS-consortium 1998, group 1, PubMed: RS-consortium 1998, group 5 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.87C>T r.(?) p.(Gly29=) - VUS g.18674870G>A - RS1(NM_000330.3):c.87C>T (p.G29=) - RS1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.96dup r.(?) p.(Trp33Leufs*53) - pathogenic g.18674864dup g.18656744dup 92_96insC - RS1_000211 - Kucinskas, ASHG2017, P1110 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.97del r.(?) p.(Trp33Glyfs*93) - likely pathogenic g.18674860del g.18656740del c.97delT - RS1_000261 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
+/? 1 3 c.103C>T r.(?) p.(Gln35*) - pathogenic g.18674854G>A g.18656734G>A - - RS1_000138 - PubMed: Hewitt 2005 - - Germline - - -KpnI - - Johan den Dunnen
+/. 1 - c.108del r.(?) p.(Ala37Hisfs*89) - pathogenic g.18674853del g.18656733del c.108del, p.(Ala37Hisfs*89) - RS1_000295 error in annotation: c.108del instead of, hemizygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
+/?, +?/. 9 3 c.120C>A r.(?) p.(Cys40*) - likely pathogenic, pathogenic g.18674837G>T g.18656717G>T - - RS1_000002 - PubMed: Eksandh 2000, PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Kjellstrom 2010, 4 more items - - Germline - - - - - Johan den Dunnen, Dorothy Trump
+/. 1 - c.140dup r.(?) p.(Asn47Lysfs*39) - pathogenic g.18674818dup g.18656698dup c.140dup, p.(Asn47Lysfs*39) - RS1_000294 error in annotation: c.140dup instead of, hemizygous PubMed: Wang 2019 - - Germline yes - - - - LOVD
+/? 1 3 c.149G>A r.(?) p.(Trp50*) - pathogenic g.18674808C>T g.18656688C>T - - RS1_000135 - PubMed: Eksandh 2005 - - Germline - - +AciI - - Johan den Dunnen
+/? 1 3 c.160_163dup r.(?) p.(Thr55Serfs*32) - pathogenic g.18674794_18674797dup g.18656674_18656677dup - - RS1_000122 - PubMed: Hiraoka 2000 - - Germline - - - - - Johan den Dunnen
+/? 1 3 c.163del r.(?) p.(Thr55Profs*71) - pathogenic g.18674794del g.18656674del - - RS1_000101 - PubMed: Gehrig 1999 - - Germline - - -BstXI +SduI - - Johan den Dunnen
+/? 1 3 c.173_184+21del r.spl? p.? - pathogenic g.18674759_18674791del g.18656639_18656671del - - RS1_000107 - PubMed: Shinoda - - Germline - - - - - Johan den Dunnen
+/? 5 3 c.175T>A r.(?) p.(Cys59Ser) - NA, pathogenic g.18674782A>T g.18656662A>T - - RS1_000022 expression construct in pcDNA3.1, COS-7 cell expression PubMed: Gehrig 1999, PubMed: Renner 2008, PubMed: RS-consortium 1998, group 2, PubMed: Wang 2002, 1 more item - - De novo, Germline, In vitro (cloned) - - - - - Johan den Dunnen
+?/. 1 - c.175T>G r.(?) p.(Cys59Gly) - likely pathogenic g.18674782A>C g.18656662A>C c.175A>C, p.(Cys59Gly) - RS1_000293 hemizygous PubMed: Wang 2019 - - Germline yes - - - - LOVD
-/?, ?/? 4 3i c.184+35T>C r.(=) p.(=) - benign, VUS g.18674738A>G g.18656618A>G 184+35C>T - RS1_000157 - PubMed: Kim 2009;Kim, ASHG2007 P1124, PubMed: Kjellstrom 2010 - rs6633109 Germline - 0.07 - - - Johan den Dunnen
-/? 2 3i c.184+129T>G r.(=) p.(=) - benign g.18674644A>C g.18656524A>C 184+129G>T - RS1_000171 - PubMed: Kim 2009;Kim, ASHG2007 P1124 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.184+2978T>C r.(=) p.(=) - VUS g.18671795A>G g.18653675A>G - - RS1_000208 - - - - Germline - - - - - Yu Sun
-/., -?/. 4 - c.184+3118C>T r.(=) p.(=) - benign, likely benign g.18671655G>A g.18653535G>A CDKL5(NM_003159.2):c.3084G>A (p.T1028=) - CDKL5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.184+3119G>A r.(=) p.(=) - likely benign g.18671654C>T - CDKL5(NM_003159.2):c.3083C>T (p.T1028M) - RS1_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.184+3199G>A r.(=) p.(=) - benign, likely benign g.18671574C>T g.18653454C>T CDKL5(NM_003159.2):c.3003C>T (p.H1001=) - CDKL5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 3 - c.184+3207C>T r.(=) p.(=) - benign g.18671566G>A g.18653446G>A 1 more item - RS1_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.184+3484C>A r.(=) p.(=) - VUS g.18671289G>T g.18653169G>T - - RS1_000210 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.185-3259G>A r.(=) p.(=) - likely benign g.18668711C>T - CDKL5(NM_003159.2):c.2979C>T (p.S993=) - RS1_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.185-3192C>T r.(=) p.(=) - VUS g.18668644G>A g.18650524G>A CDKL5(NM_003159.2):c.2912G>A (p.G971D) - RS1_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.185-3179G>C r.(=) p.(=) - likely benign g.18668631C>G - CDKL5(NM_003159.2):c.2899C>G (p.L967V) - RS1_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.185-3177A>G r.(=) p.(=) - VUS g.18668629T>C g.18650509T>C CDKL5(NM_003159.2):c.2897T>C (p.V966A) - RS1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.185-3147C>T r.(=) p.(=) - likely benign g.18668599G>A - CDKL5(NM_003159.2):c.2867G>A (p.R956H) - RS1_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.185-3135C>T r.(=) p.(=) - benign g.18668587G>A g.18650467G>A CDKL5(NM_003159.2):c.2855G>A (p.R952Q) - RS1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.185-3125C>T r.(=) p.(=) - likely benign g.18668577G>A - CDKL5(NM_003159.2):c.2845G>A (p.V949I) - RS1_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.185-3079T>C r.(=) p.(=) - likely benign g.18668531A>G - CDKL5(NM_003159.2):c.2799A>G (p.G933=) - RS1_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 3i c.185-150A>C r.(=) p.(=) - VUS g.18665602T>G g.18647482T>G - - RS1_000153 - - - rs6633107 Germline - 0.11 - - - Johan den Dunnen
+/? 1 3i_4i c.185-34_326+297del r.(?) p.(Glu62Glyfs*17) - pathogenic g.18665016_18665488del g.18646896_18647368del - - RS1_000145 - PubMed: Shinoda 2004 - - Germline - - - - - Johan den Dunnen
?/? 1 3i c.185-3C>T r.spl? p.? - VUS g.18665455G>A g.18647335G>A - - RS1_000154 - - - rs2239810 Germline - <0.01 - - - Johan den Dunnen
+/? 1 3i c.185-1G>C r.spl? p.? - pathogenic g.18665453C>G g.18647333C>G - - RS1_000025 - PubMed: RS-consortium 1998, group 2 - - Germline - - -BscI - - Johan den Dunnen
+?/. 1 - c.187T>C r.(?) p.(Cys63Arg) - likely pathogenic g.18665450A>G g.18647330A>G c.187A>G, p.(Cys63Arg) - RS1_000292 error in annotation: c.187A>G instead of T>C, hemizygous PubMed: Wang 2019 - - Germline yes - - - - LOVD
+/? 1 4 c.194del r.(?) p.(Tyr65Phefs*61) - pathogenic g.18665443del g.18647323del - - RS1_000110 - PubMed: Hiriyanna 1999 - - Germline - - - - - Johan den Dunnen
+/? 1 4 c.195del r.(?) p.(His66Thrfs*60) - pathogenic g.18665442del g.18647322del - - RS1_000119 - PubMed: Inoue 2000 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.196C>G r.(?) p.(His66Asp) - likely pathogenic g.18665441G>C g.18647321G>C c.196G>C, p.(His66Asp) - RS1_000291 error in annotation: c.196G>C instead of C>G, hemizygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
+/? 1 4 c.206T>C r.(?) p.(Leu69Pro) - pathogenic g.18665431A>G g.18647311A>G - - RS1_000161 - PubMed: Tsang 2007 - - Germline - - - - - Johan den Dunnen
+/?, +?/. 13 4 c.208G>A r.(?) p.(Gly70Ser) - likely pathogenic, NA, pathogenic g.18665429C>T g.18647309C>T - - RS1_000028 Dd.DDR1:Gly36Ser; expression construct in pET30, 293 cell expression, 1 more item PubMed: Curat 2001, PubMed: Hiriyanna 1999, PubMed: RS-consortium 1998, group 3, PubMed: Stone 2017, 3 more items - - Germline, In vitro (cloned) - - +DdeI - - Johan den Dunnen, Dorothy Trump
+/? 1 4 c.208G>C r.(?) p.(Gly70Arg) - pathogenic g.18665429C>G g.18647309C>G - - RS1_000111 - PubMed: Hiriyanna 1999 - - Germline - - +DdeI - - Johan den Dunnen
+/., +/?, +?/., ?/. 72 4 c.214G>A r.(?) p.(Glu72Lys) - likely pathogenic, pathogenic, unclassified g.18665423C>T g.18647303C>T c.214C>T, p.(Glu72Lys), c.214G>A, c.214G>A, p.(Glu72Lys), 2 more items - RS1_000029 Check also: Huopaniemi.1999, error in annotation: c.214C>T instead of G>A, hemizygous, 2 more items Riveiro-Alvarez ESHG2008 P05.210;PubMed: Riveiro-Alvarez 2009, PubMed: Avela 2019, PubMed: Hotta 1998, 24 more items - - CLASSIFICATION record, De novo, Germline, Germline/De novo (untested) ?, yes 252 TaqI- - - Johan den Dunnen, Viktoria Szabo, Dorothy Trump, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/? 4 4 c.214G>C r.(?) p.(Glu72Gln) - pathogenic g.18665423C>G g.18647303C>G - - RS1_000124 - PubMed: Kim 2009;Kim, ASHG2007 P1124, PubMed: Yu 2001 - - Germline - - TaqI- - - Johan den Dunnen, Dorothy Trump
+/? 1 4 c.215A>C r.(?) p.(Glu72Ala) - pathogenic g.18665422T>G g.18647302T>G - - RS1_000131 - DB: Gal - - Germline - - TaqI- - - Johan den Dunnen
+/? 1 4 c.215A>G r.(?) p.(Glu72Gly) - pathogenic g.18665422T>C g.18647302T>C - - RS1_000180 not in 125 normal chromosomes PubMed: Shukla 2007 - - Germline - - - - - Johan den Dunnen
+/? 2 4 c.216G>C r.(?) p.(Glu72Asp) - pathogenic g.18665421C>G g.18647301C>G - - RS1_000030 - PubMed: RS-consortium 1998; group 2, PubMed: RS-consortium 1998; group 4 - - Germline - - -PleI - - Johan den Dunnen
+/? 2 4 c.217T>C r.(?) p.(Ser73Pro) - pathogenic g.18665420A>G g.18647300A>G - - RS1_000144 - PubMed: Hayashi 2004, PubMed: Li 2007, PubMed: Ma 2008 - - Germline - - +MvaI - - Johan den Dunnen
+/? 1 4 c.219del r.(?) p.(Glu75Argfs*51) - pathogenic g.18665418del g.18647298del - - RS1_000112 - PubMed: Hiriyanna 1999 - - Germline - - - - - Johan den Dunnen
+/?, +?/., ?/. 6 4 c.221G>T r.(?) p.(Gly74Val) - likely pathogenic, pathogenic, VUS g.18665416C>A g.18647296C>A - - RS1_000031 VKGL data sharing initiative Nederland PubMed: Eksandh 2000, PubMed: Hiriyanna 1999, PubMed: Holtan 2020, PubMed: Huopaniemi 1999, 1 more item - - CLASSIFICATION record, Germline - 1/899 cases -MnlI - - Global Variome, with Curator vacancy, Johan den Dunnen, VKGL-NL_Nijmegen
+/? 1 4 c.221_237delinsTCCCCTGACCGGGTTA r.(?) p.(Gly74Valfs*3) - pathogenic g.18665400_18665416delinsTAACCCGGTCAGGGGA g.18647280_18647296delinsTAACCCGGTCAGGGGA 221_237delins20 - RS1_000090 - PubMed: Rodriguez 1998 - - Germline - - - - - Johan den Dunnen
+/?, ?/? 5 4 c.223G>T r.(?) p.(Glu75*) - pathogenic, VUS g.18665414C>A g.18647294C>A - - RS1_000032 - PubMed: Hiriyanna 1999, PubMed: RS-consortium 1998, group 2, PubMed: RS-consortium 1998, group 3 - rs62641252 Germline - - -MnlI - - Johan den Dunnen
+/? 1 4 c.227T>G r.(?) p.(Val76Gly) - pathogenic g.18665410A>C g.18647290A>C - - RS1_000172 not in 108 control chromosomes PubMed: Kim 2009;Kim, ASHG2007 P1124 - - Germline - - - - - Johan den Dunnen
+/? 2 4 c.238C>T r.(?) p.(Gln80*) - pathogenic g.18665399G>A g.18647279G>A - - RS1_000158 - PubMed: Jin 2007, PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 - - De novo, Germline - - - - - Johan den Dunnen, Zi-Bing Jin
+/?, ?/? 2 4 c.242T>A r.(?) p.(Ile81Asn) - pathogenic, VUS g.18665395A>T g.18647275A>T - - RS1_000146 - PubMed: Simonelli 2003 - rs61750457 Germline - - - - - Johan den Dunnen
+/? 1 4 c.253_255del r.(?) p.(Asn85del) - pathogenic g.18665382_18665384del g.18647262_18647264del - - RS1_000113 - PubMed: Hiriyanna 1999 - - Germline - - -NciI, +AccIII - - Johan den Dunnen
-/. 1 - c.258G>A r.(?) p.(Pro86=) - benign g.18665379C>T g.18647259C>T CDKL5(NM_003159.2):c.2797+1169C>T, RS1(NM_000330.3):c.258G>A (p.P86=) - RS1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 1 4 c.262C>T r.(?) p.(Gln88*) - VUS g.18665375G>A g.18647255G>A 0 - RS1_000181 - - - rs61750459 Germline - - - - - Johan den Dunnen
+/?, ?/? 8 4 c.266A>G r.(?) p.(Tyr89Cys) - pathogenic, VUS g.18665371T>C g.18647251T>C - - RS1_000033 - Riveiro-Alvarez ESHG2008 P05.210;PubMed: Riveiro-Alvarez 2009, PubMed: Hayashi 2004, 3 more items - rs61752060 Germline - - +TspRI - - Johan den Dunnen
+/?, ?/? 2 4 c.267T>A r.(?) p.(Tyr89*) - pathogenic, VUS g.18665370A>T g.18647250A>T - - RS1_000034 - PubMed: Shastry 1999 - rs61752061 Germline - - - - - Johan den Dunnen
?/? 1 4 c.274T>G r.(?) p.(Trp92Gly) - VUS g.18665363A>C g.18647243A>C 289T>G - RS1_000182 - PubMed: Lamey 2010 - - Germline - - - - - Johan den Dunnen
+/?, +?/., ?/? 4 4 c.276G>C r.(?) p.(Trp92Cys) - likely pathogenic, pathogenic, VUS g.18665361C>G g.18647241C>G c.276C>G, p.(Trp92Cys) - RS1_000091 error in annotation: c.276C>G instead of G>C, hemizygous PubMed: Hotta 1998, PubMed: Inoue 2000, PubMed: Wang 2019 - rs61752062 Germline ? - +BbvI - - Johan den Dunnen
+?/. 1 - c.278A>G r.(?) p.(Tyr93Cys) - likely pathogenic g.18665359T>C g.18647239T>C - - RS1_000260 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
+/?, +?/., ?/? 15 4 c.286T>C r.(?) p.(Trp96Arg) - likely pathogenic, pathogenic, VUS g.18665351A>G g.18647231A>G c286T>C, RS1 c.286T>C, p.Trp96Arg - RS1_000003 - PubMed: Eksandh 2005, PubMed: Hiriyanna 1999, PubMed: RS-consortium 1998, group 3, PubMed: Sauer, 2 more items - rs61752063 Germline, Unknown ? - +AciI - - Johan den Dunnen
+/?, ?/? 2 4 c.288G>A r.(?) p.(Trp96*) - pathogenic, VUS g.18665349C>T g.18647229C>T - - RS1_000147 - PubMed: Sato 2003 - rs61752064 Germline - - - - - Johan den Dunnen
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