Unique variants in the DDX3X gene

Information The variants shown are described using the NM_001356.3 transcript reference sequence.

112 entries on 2 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.46-5_46-3del r.spl? p.? - likely pathogenic g.41196656_41196658del g.41337403_41337405del - - DDX3X_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1i c.46-2A>C r.spl p.? - pathogenic (dominant) g.41196659A>C g.41337406A>C - - DDX3X_000049 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 1i c.46-2A>G r.spl p.? - pathogenic (dominant) g.41196659A>G g.41337406A>G - - DDX3X_000050 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.46-1G>A r.spl? p.? - pathogenic g.41196660G>A - DDX3X(NM_001193416.3):c.46-1G>A - DDX3X_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.77del r.(?) p.(Asn26Ilefs*18) - pathogenic g.41196692del g.41337439del 77delA - DDX3X_000100 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.98C>T r.(?) p.(Ala33Val) - likely benign g.41196713C>T - DDX3X(NM_001356.4):c.98C>T (p.A33V) - DDX3X_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.103+193dup r.(=) p.(=) - VUS g.41196911dup g.41337658dup - - DDX3X_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.104-3del r.spl? p.? - likely benign g.41198286del g.41339033del - - DDX3X_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ./. 2 - c.136C>T r.(?) p.(Arg46*), p.(Arg46Ter) - pathogenic g.41198321C>T g.41339068C>T DDX3X(NM_001356.4):c.136C>T (p.R46*) - DDX3X_000004 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.152-5C>G r.spl? p.? - VUS g.41200732C>G g.41341479C>G DDX3X(NM_001193416.1):c.152-5C>G (p.?) - DDX3X_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.158A>G r.(?) p.(Tyr53Cys) - VUS g.41200743A>G - - - DDX3X_000117 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. 1 - c.170G>A r.(?) p.(Ser57Asn) - likely benign g.41200755G>A g.41341502G>A DDX3X(NM_001193416.1):c.170G>A (p.(Ser57Asn)) - DDX3X_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 4 c.192dup r.(?) p.(Asp65Argfs*2) - pathogenic g.41200777dup g.41341524dup - - DDX3X_000008 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.224dup r.(?) p.(Ser76Ter) - pathogenic g.41200809dup g.41341556dup - - DDX3X_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.233C>G r.(?) p.(Ser78*) - pathogenic (dominant) g.41200818C>G g.41341565C>G - - DDX3X_000051 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 - c.236G>A r.(?) p.(Arg79Lys) - likely pathogenic, likely pathogenic (recessive) g.41200821G>A g.41341568G>A - - DDX3X_000111 - PubMed: Kellaris 2018 - - De novo - - - - - Joaquin De La Torre Vela
-?/. 1 - c.252C>T r.(?) p.(Phe84=) - likely benign g.41200837C>T - DDX3X(NM_001356.4):c.252C>T (p.F84=) - DDX3X_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.262del r.(?) p.(Arg88ValfsTer133) - pathogenic g.41200847del - DDX3X(NM_001356.4):c.262delC (p.R88Vfs*133) - DDX3X_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.269dup r.(?) p.(Ser90Argfs*8) - pathogenic (dominant) g.41200854dup g.41341601dup - - DDX3X_000027 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.362G>A r.(?) p.(Arg121His) - VUS g.41201825G>A g.41342572G>A DDX3X(NM_001356.5):c.362G>A (p.R121H) - DDX3X_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 5 c.362G>T r.(?) p.(Arg121Leu) - pathogenic g.41201825G>T g.41342572G>T - - DDX3X_000006 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.386dup r.(?) p.(Asp129GlufsTer5) - pathogenic g.41201849dup g.41342596dup - - DDX3X_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.421C>G r.(?) p.(Pro141Ala) - VUS g.41201884C>G g.41342631C>G DDX3X(NM_001356.4):c.421C>G (p.P141A) - DDX3X_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.442C>T r.(?) p.(Gln148*) - pathogenic g.41201905C>T g.41342652C>T - - DDX3X_000013 - - - - Unknown - - - - - IMGAG
+?/. 1 - c.444-1G>C r.spl? p.? - likely pathogenic g.41201989G>C g.41342736G>C - - DDX3X_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.453_454del r.(?) p.(Ser152TrpfsTer7) - pathogenic g.41201999_41202000del g.41342746_41342747del DDX3X(NM_001356.4):c.453_454delTT (p.S152Wfs*7) - DDX3X_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.458G>T r.(?) p.(Gly153Val) - VUS g.41202004G>T g.41342751G>T DDX3X(NM_001356.4):c.458G>T (p.G153V) - DDX3X_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.491A>G r.(?) p.(Asp164Gly) - VUS g.41202037A>G - DDX3X(NM_001356.4):c.491A>G (p.D164G) - DDX3X_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.499C>T r.(?) p.(Pro167Ser) - likely pathogenic g.41202045C>T g.41342792C>T - - DDX3X_000099 - - - - Unknown - - - - - IMGAG
+/. 1 - c.577G>T r.(?) p.(Gly193*) - pathogenic g.41202502G>T g.41343249G>T NM_001193417.2:c.529G>T - DDX3X_000107 RNA expression only reference allele PubMed: Fieremans 2016 - - De novo - - - - skewed X-inactivation (92:8 pat:mat) Johan den Dunnen
+?/. 1 - c.584T>G r.(?) p.(Ile195Ser) - likely pathogenic g.41202509T>G g.41343256T>G - - DDX3X_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 7 c.599dup r.(?) p.(Tyr200*) - pathogenic (dominant) g.41202524dup g.41343271dup - - DDX3X_000052 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 7 c.600_601dup r.(?) p.(Thr201Ilefs*21) ACMG likely pathogenic (dominant) g.41202525_41202526dup - - - DDX3X_000114 ACMG: PVS1, PM2, class 4; suspected de novo, segregation/ de novo status not analysed yet - - - Germline ? - - - - Andreas Laner
./. 1 - c.641T>C r.(?) p.(Ile214Thr) - pathogenic g.41202566T>C g.41343313T>C - - DDX3X_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 7 c.641_643del r.(?) p.(Ile214del) - pathogenic (dominant) g.41202566_41202568del g.41343313_41343315del - - DDX3X_000043 - - - - De novo yes - - - - Annalaura Torella
+/. 1 8 c.698C>T r.(?) p.(Ala233Val) - pathogenic (dominant) g.41203008C>T g.41343755C>T - - DDX3X_000053 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 8 c.704T>C r.(?) p.(Leu235Pro) - pathogenic (dominant) g.41203014T>C g.41343761T>C - - DDX3X_000054 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 - c.731C>G r.(?) p.(Ser244Ter) - pathogenic g.41203041C>G g.41343788C>G DDX3X(NM_001356.4):c.731C>G (p.S244*), DDX3X(NM_001356.5):c.731C>G (p.S244*) - DDX3X_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 8i c.766-1G>C r.spl p.? - pathogenic (dominant) g.41203282G>C g.41344029G>C - - DDX3X_000055 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.830_831del r.(?) p.(Glu277ValfsTer17) - pathogenic g.41203347_41203348del g.41344094_41344095del DDX3X(NM_001356.4):c.830_831delAG (p.E277Vfs*17) - DDX3X_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 9i c.865-2A>G r.spl p.? - pathogenic (dominant) g.41203490A>G g.41344237A>G - - DDX3X_000056 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.865-1G>A r.spl? p.? - pathogenic g.41203491G>A g.41344238G>A DDX3X(NM_001193416.1):c.865-1G>A (p.?) - DDX3X_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 10 c.868del r.(?) p.(Ser290Hisfs*31) - pathogenic (dominant) g.41203495del g.41344242del - - DDX3X_000047 - PubMed: Rauch 2012 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.870A>G r.(?) p.(Ser290=) - likely benign g.41203497A>G - DDX3X(NM_001363819.1):c.312A>G (p.S104=) - DDX3X_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 10 c.873C>A r.(?) p.(Tyr291*), p.(Tyr291Ter) - likely pathogenic, pathogenic (dominant) g.41203500C>A g.41344247C>A - - DDX3X_000032 VKGL data sharing initiative Nederland PubMed: Snijders-Blok 2015 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 - c.874C>T r.(?) p.(Arg292*) - pathogenic g.41203501C>T g.41344248C>T - - DDX3X_000041 - - - - Unknown - - - - - IMGAG
+?/. 1 - c.877T>C r.(?) p.(Ser293Pro) - likely pathogenic g.41203504T>C g.41344251T>C - - DDX3X_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.898G>T r.(?) p.(Val300Phe) - pathogenic (recessive) g.41203525G>T g.41344272G>T - - DDX3X_000046 - PubMed: Snijders-Blok 2015 - - De novo yes - - - - Johan den Dunnen
+/. 1 - c.904G>A r.(?) p.(Gly302Ser) - pathogenic g.41203531G>A g.41344278G>A NM_001193417.2:c.856G>A - DDX3X_000106 - PubMed: Fieremans 2016 - - Germline/De novo (untested) - - - - skewed X-inactivation (1:99 pat:mat) Johan den Dunnen
+/. 1 10 c.931C>T r.(?) p.(Arg311*) - pathogenic (dominant) g.41203558C>T g.41344305C>T - - DDX3X_000057 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.950G>A r.(?) p.(Cys317Tyr) - likely pathogenic g.41203577G>A g.41344324G>A - - DDX3X_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.969T>C r.(?) p.(Thr323=) - likely benign g.41203596T>C g.41344343T>C DDX3X(NM_001356.4):c.969T>C (p.T323=) - DDX3X_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.976C>T r.(?) p.(Arg326Cys) - VUS g.41203603C>T g.41344350C>T - - DDX3X_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.977G>A r.(?) p.(Arg326His) - pathogenic (dominant) g.41203604G>A g.41344351G>A - - DDX3X_000058 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.1023C>T r.(?) p.(Cys341=) - VUS g.41203650C>T - DDX3X(NM_001356.4):c.1023C>T (p.C341=) - DDX3X_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1026-6T>G r.(=) p.(=) - likely pathogenic g.41204427T>G g.41345174T>G DDX3X(NM_001356.4):c.1026-6T>G - DDX3X_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1031T>A r.(?) p.(Leu344Ter) - pathogenic g.41204438T>A - DDX3X(NM_001356.4):c.1031T>A (p.L344*) - DDX3X_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.1033G>T r.(?) p.(Val345Leu) - likely pathogenic g.41204440G>T g.41345187G>T - - DDX3X_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1037T>G r.(?) p.(Leu346Ter) - pathogenic g.41204444T>G g.41345191T>G DDX3X(NM_001356.5):c.1037T>G (p.L346*) - DDX3X_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 11 c.1052G>A r.(?) p.(Arg351Gln) - pathogenic (recessive) g.41204459G>A g.41345206G>A - - DDX3X_000048 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 11 c.1084C>T r.(?) p.(Arg362Cys) - pathogenic (recessive) g.41204491C>T g.41345238C>T - - DDX3X_000059 - PubMed: Snijders-Blok 2015 - - Germline yes - - - - Johan den Dunnen
+/. 1 11 c.1105dup r.(?) p.(Thr369Asnfs*14) - pathogenic (dominant) g.41204512dup g.41345259dup - - DDX3X_000060 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.1126C>G r.(?) p.(Arg376Gly) - pathogenic g.41204533C>G - DDX3X(NM_001193416.3):c.1126C>G (p.R376G) - DDX3X_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +?/., ./. 5 11 c.1126C>T r.(?) p.(Arg376Cys) - likely pathogenic, pathogenic, pathogenic (dominant) g.41204533C>T g.41345280C>T DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.4):c.1126C>T (p.R376C) - DDX3X_000002 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Snijders-Blok 2015 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_VUmc
+?/. 1 - c.1127G>A r.(?) p.(Arg376His) - likely pathogenic (recessive) g.41204534G>A g.41345281G>A - - DDX3X_000108 - PubMed: Nicola 2019 - - De novo - - - - - Joaquin De La Torre Vela
+?/. 1 - c.1150A>C r.(?) p.(Thr384Pro) - likely pathogenic g.41204557A>C - - - DDX3X_000113 - - - - Unknown - - - - - IMGAG
+/. 1 - c.1154_1159del r.(?) p.(Phe385Ter) - pathogenic g.41204561_41204566del g.41345308_41345313del DDX3X(NM_001356.5):c.1154_1159delTTCCTA (p.F385*) - DDX3X_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 2 - c.1156C>T r.(?) p.(Pro386Ser) - likely pathogenic g.41204563C>T g.41345310C>T DDX3X(NM_001356.4):c.1156C>T (p.P386S) - DDX3X_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.1170+1G>A r.spl? p.? - pathogenic g.41204578G>A g.41345325G>A DDX3X(NM_001356.4):c.1170+1G>A - DDX3X_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 12 c.1175T>C r.(?) p.(Leu392Pro) - pathogenic (dominant) g.41204661T>C g.41345408T>C - - DDX3X_000061 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 12 c.1229_1230dup r.(?) p.(Thr411Leufs*10) - pathogenic (dominant) g.41204715_41204716dup g.41345462_41345463dup - - DDX3X_000062 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 12 c.1250A>C r.(?) p.(Gln417Pro) - pathogenic (dominant) g.41204736A>C g.41345483A>C - - DDX3X_000063 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1315+1G>C r.spl p.? - likely pathogenic g.41204802G>C g.41345549G>C - - DDX3X_000105 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.1315+5C>T r.spl? p.? - likely benign g.41204806C>T g.41345553C>T DDX3X(NM_001363819.1):c.757+5C>T - DDX3X_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13 c.1321del r.(?) p.(Asp441Ilefs*3) - pathogenic (dominant) g.41205487del g.41346234del - - DDX3X_000064 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1330dup r.(?) p.(Thr444AsnfsTer21) - likely pathogenic g.41205496dup g.41346243dup - - DDX3X_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13 c.1383dup r.(?) p.(Tyr462Ilefs*3) - pathogenic (dominant) g.41205549dup g.41346296dup - - DDX3X_000065 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 13 c.1384_1385dup r.(?) p.(His463Thrfs*34) - pathogenic (dominant) g.41205550_41205551dup g.41346297_41346298dup - - DDX3X_000066 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 13 c.1423C>G r.(?) p.(Arg475Gly) - pathogenic (dominant) g.41205589C>G g.41346336C>G - - DDX3X_000067 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1423C>T r.(?) p.(Arg475Cys) - likely pathogenic g.41205589C>T - - - DDX3X_000115 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.1434G>A r.(?) p.(Arg478=) - likely benign g.41205600G>A - DDX3X(NM_001363819.1):c.876G>A (p.R292=) - DDX3X_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13 c.1436_1439delinsTCTC r.(?) p.(Asp479_Arg480delinsValSer) - pathogenic (dominant) g.41205602_41205605delinsTCTC g.41346349_41346352delinsTCTC - - DDX3X_000045 - - - - De novo yes - - - - Annalaura Torella
+/., +?/. 2 13 c.1440A>T r.(?) p.(Arg480Ser) - likely pathogenic, pathogenic (dominant) g.41205606A>T g.41346353A>T - - DDX3X_000036 VKGL data sharing initiative Nederland PubMed: Snijders-Blok 2015 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.1457A>C r.(?) p.(Gln486Pro) - VUS g.41205623A>C - DDX3X(NM_001356.4):c.1457A>C (p.Q486P) - DDX3X_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +?/. 2 13 c.1463G>A r.(?) p.(Arg488His) - likely pathogenic, pathogenic (dominant) g.41205629G>A g.41346376G>A DDX3X(NM_001356.4):c.1463G>A (p.R488H) - DDX3X_000022 VKGL data sharing initiative Nederland PubMed: Snijders-Blok 2015 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_VUmc
+/. 1 - c.1486G>A r.(?) p.(Val496Met) - likely pathogenic (recessive) g.41205652G>A g.41346399G>A - - DDX3X_000109 - PubMed: Nicola 2019 - - De novo - - - - - Joaquin De La Torre Vela
?/. 1 - c.1492A>G r.(?) p.(Thr498Ala) - VUS g.41205658A>G g.41346405A>G DDX3X(NM_001356.4):c.1492A>G (p.T498A) - DDX3X_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 14 c.1511G>A r.(?) p.(Gly504Glu) - pathogenic (dominant) g.41205771G>A g.41346518G>A - - DDX3X_000044 - - - - De novo yes - - - - Annalaura Torella
+/. 1 14 c.1520T>C r.(?) p.(Ile507Thr) - pathogenic (dominant) g.41205780T>C g.41346527T>C - - DDX3X_000068 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 14 c.1526A>T r.(?) p.(Asn509Ile) - pathogenic (dominant) g.41205786A>T g.41346533A>T - - DDX3X_000069 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 14 c.1535_1536del r.(?) p.(His512Argfs*5) - pathogenic (dominant) g.41205795_41205796del g.41346542_41346543del - - DDX3X_000070 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 14 c.1541T>C r.(?) p.(Ile514Thr) - pathogenic (dominant) g.41205801T>C g.41346548T>C - - DDX3X_000071 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.1561G>A r.(?) p.(Asp521Asn) - VUS g.41205821G>A g.41346568G>A DDX3X(NM_001356.4):c.1561G>A (p.D521N) - DDX3X_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1565T>C r.(?) p.(Ile522Thr) - VUS g.41205825T>C - - - DDX3X_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1574A>G r.(?) p.(Tyr525Cys) - likely pathogenic g.41205834A>G g.41346581A>G - - DDX3X_000104 - submitted - - De novo yes - - - - Tadashi Kaname
?/. 1 - c.1582C>T r.(?) p.(Arg528Cys) - VUS g.41205842C>T g.41346589C>T DDX3X(NM_001356.5):c.1582C>T (p.R528C) - DDX3X_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1592G>A r.(?) p.(Arg531His) - VUS g.41205852G>A g.41346599G>A DDX3X(NM_001356.4):c.1592G>A (p.R531H) - DDX3X_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1595C>T r.(?) p.(Thr532Met) - VUS g.41205855C>T g.41346602C>T - - DDX3X_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1597_1601dup r.(?) p.(Val535AspfsTer3) - pathogenic g.41205857_41205861dup g.41346604_41346608dup DDX3X(NM_001356.4):c.1597_1601dupGGACG (p.V535Dfs*3) - DDX3X_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 14 c.1600dup r.(?) p.(Arg534Profs*13) - pathogenic (dominant) g.41205860dup g.41346607dup - - DDX3X_000072 - PubMed: Snijders-Blok 2015 - - De novo - - - - - Johan den Dunnen
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