All variants in the ATRX gene

Information The variants shown are described using the NM_000489.3 transcript reference sequence.

205 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-14G>A r.(?) p.(=) - benign g.77041501C>T g.77786015C>T - - ATRX_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.22G>A r.(?) p.(Glu8Lys) - VUS g.76972719C>T - ATRX(NM_000489.6):c.22G>A (p.E8K) - ATRX_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.109C>T r.(?) p.(Arg37Ter) - pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.109C>T r.(?) p.(Arg37*) - pathogenic (recessive) g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37*) - likely pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs122445108 Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37*) - likely pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs122445108 Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37*) - likely pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs122445108 Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 c.109C>T r.(?) p.(Arg37* ) ACMG pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Squeo 2020 - - Germline - - - - - Johan den Dunnen
+/. 2 c.109C>T r.(?) p.(Arg37Ter) - pathogenic (dominant) g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Nambot 2018 - - De novo - - - - - Johan den Dunnen
+?/. - c.166_167dup r.(?) p.(Met56Ilefs*2) - likely pathogenic g.76954084_76954085dup g.77698596_77698597dup - - ATRX_000273 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.189+7A>G r.(=) p.(=) - likely benign g.76954055T>C g.77698567T>C ATRX(NM_000489.3):c.189+7A>G (p.(=)) - ATRX_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.213del r.(?) p.(Lys72Serfs*15) - likely pathogenic g.76953100del g.77697612del - - ATRX_000272 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-/. - c.228G>A r.(?) p.(Ser76=) - benign g.76953085C>T g.77697597C>T ATRX(NM_000489.3):c.228G>A (p.(Ser76=)), ATRX(NM_000489.6):c.228G>A (p.S76=) - ATRX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.228G>A r.(?) p.(Ser76=) - benign g.76953085C>T g.77697597C>T ATRX(NM_000489.3):c.228G>A (p.(Ser76=)), ATRX(NM_000489.6):c.228G>A (p.S76=) - ATRX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.228G>A r.(?) p.(Ser76=) - benign g.76953085C>T - ATRX(NM_000489.3):c.228G>A (p.(Ser76=)), ATRX(NM_000489.6):c.228G>A (p.S76=) - ATRX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.317A>T r.(?) p.(Asp106Val) - VUS g.76952118T>A g.77696630T>A ATRX(NM_000489.3):c.317A>T (p.(Asp106Val)) - ATRX_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 7 c.533T>A r.(?) p.(Val178Asp) - pathogenic g.76944372A>T g.77688879A>T NM_000489: c.T533A; p.V178D - ATRX_000160 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
+?/. - c.536A>G r.(?) p.(Asn179Ser) - likely pathogenic g.76944369T>C g.77688876T>C - - ATRX_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.567C>G r.(?) p.(His189Gln) - likely pathogenic g.76944338G>C g.77688845G>C - - ATRX_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.661A>C r.(?) p.(Arg221=) - VUS g.76940432T>G g.77684940T>G ATRX(NM_000489.5):c.661A>C (p.R221=) - ATRX_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.726A>G r.(?) p.(Lys242=) - likely benign g.76940022T>C - ATRX(NM_000489.5):c.726A>G (p.K242=) - ATRX_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.734T>A r.(?) p.(Leu245Gln) - likely pathogenic g.76940014A>T g.77684522A>T ATRX(NM_000489.5):c.734T>A (p.L245Q) - ATRX_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.736C>T r.(?) p.(Arg246Cys) - pathogenic g.76940012G>A g.77684520G>A ATRX(NM_000489.5):c.736C>T (p.R246C) - ATRX_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.736C>T r.(?) p.(Arg246Cys) - pathogenic g.76940012G>A g.77684520G>A ATRX(NM_000489.5):c.736C>T (p.R246C) - ATRX_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.736C>T r.(?) p.(Arg246Cys) - pathogenic g.76940012G>A g.77684520G>A - - ATRX_000222 - PubMed: Zhu 2015 - - De novo - - - - - Johan den Dunnen
+?/. - c.748C>T r.(?) p.(Arg250*) ACMG pathogenic g.76940000G>A - - - ATRX_000269 - PubMed: Mendonca 2021 - - Somatic - 0.035 - - - Vanessa Mendonça
+/. - c.797A>G r.(?) p.(Tyr266Cys) - pathogenic g.76939951T>C g.77684459T>C - - ATRX_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.846C>T r.(?) p.(Ser282=) - likely benign g.76939902G>A g.77684410G>A ATRX(NM_000489.5):c.846C>T (p.S282=) - ATRX_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.846C>T r.(?) p.(Ser282=) - likely benign g.76939902G>A - ATRX(NM_000489.5):c.846C>T (p.S282=) - ATRX_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1013C>G r.(?) p.(Ser338Cys) - VUS g.76939735G>C g.77684243G>C - - ATRX_000262 phenotype fits better with HCFC1 variant PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
-?/. - c.1032C>T r.(?) p.(Ser344=) - likely benign g.76939716G>A - ATRX(NM_000489.5):c.1032C>T (p.S344=) - ATRX_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1077G>T r.(?) p.(Leu359=) - likely benign g.76939671C>A - ATRX(NM_000489.5):c.1077G>T (p.L359=) - ATRX_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1150A>C r.(?) p.(Ser384Arg) ACMG VUS g.76939598T>G - - - ATRX_000271 ACMG grading: PM2,PP3 - - rs782196033 Germline - - - - - Andreas Laner
-?/. - c.1157C>T r.(?) p.(Ala386Val) - likely benign g.76939591G>A g.77684099G>A ATRX(NM_000489.5):c.1157C>T (p.A386V) - ATRX_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1245C>T r.(?) p.(Ser415=) - likely benign g.76939503G>A - ATRX(NM_000489.5):c.1245C>T (p.S415=) - ATRX_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1287C>G r.(?) p.(Thr429=) - likely benign g.76939461G>C g.77683969G>C ATRX(NM_000489.5):c.1287C>G (p.T429=) - ATRX_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1303A>G r.(?) p.(Ile435Val) - likely benign g.76939445T>C g.77683953T>C ATRX(NM_000489.5):c.1303A>G (p.I435V) - ATRX_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1303A>G r.(?) p.(Ile435Val) - likely benign g.76939445T>C - ATRX(NM_000489.5):c.1303A>G (p.I435V) - ATRX_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1366G>T r.(?) p.(Asp456Tyr) - VUS g.76939382C>A g.77683890C>A ATRX(NM_000489.5):c.1366G>T (p.D456Y) - ATRX_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1380A>G r.(?) p.(Ser460=) - likely benign g.76939368T>C - ATRX(NM_000489.5):c.1380A>G (p.S460=) - ATRX_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1423C>G r.(?) p.(His475Asp) - VUS g.76939325G>C g.77683833G>C ATRX(NM_000489.3):c.1423C>G (p.(His475Asp)) - ATRX_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1428G>A r.(?) p.(Gln476=) - likely benign g.76939320C>T - ATRX(NM_000489.5):c.1428G>A (p.Q476=) - ATRX_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1448A>C r.(?) p.(Gln483Pro) - likely benign g.76939300T>G - ATRX(NM_000489.5):c.1448A>C (p.Q483P) - ATRX_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1504C>A r.(?) p.(Pro502Thr) - likely benign g.76939244G>T - ATRX(NM_000489.5):c.1504C>A (p.P502T) - ATRX_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1628A>C r.(?) p.(Asp543Ala) - VUS g.76939120T>G - ATRX(NM_000489.5):c.1628A>C (p.D543A) - ATRX_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1633C>G r.(?) p.(Gln545Glu) - likely benign g.76939115G>C g.77683623G>C ATRX(NM_000489.3):c.1633C>G (p.(Gln545Glu)), ATRX(NM_000489.5):c.1633C>G (p.Q545E) - ATRX_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1633C>G r.(?) p.(Gln545Glu) - likely benign g.76939115G>C g.77683623G>C ATRX(NM_000489.3):c.1633C>G (p.(Gln545Glu)), ATRX(NM_000489.5):c.1633C>G (p.Q545E) - ATRX_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 9 c.1676C>T r.(?) p.(Ser559Leu) - pathogenic g.76939072G>A g.77683580G>A NM_000489: c.C1676T; p.S559L - ATRX_000159 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
+/. 9 c.1679C>G r.(?) p.(Ser560Cys) - pathogenic g.76939069G>C g.77683577G>C - - ATRX_000155 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/. - c.1727C>A r.(?) p.(Ser576Ter) - pathogenic g.76939021G>T g.77683529G>T - - ATRX_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 9 c.1727C>A r.(?) p.(Ser576* ) ACMG pathogenic g.76939021G>T g.77683529G>T - - ATRX_000220 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.1727C>T r.(?) p.(Ser576Leu) - likely benign g.76939021G>A g.77683529G>A ATRX(NM_000489.3):c.1727C>T (p.(Ser576Leu)) - ATRX_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1729A>G r.(?) p.(Lys577Glu) - VUS g.76939019T>C g.77683527T>C ATRX(NM_000489.3):c.1729A>G (p.(Lys577Glu)) - ATRX_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1880G>A r.(?) p.(Cys627Tyr) - likely benign g.76938868C>T g.77683376C>T ATRX(NM_000489.5):c.1880G>A (p.C627Y) - ATRX_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2000C>T r.(?) p.(Pro667Leu) - likely benign g.76938748G>A g.77683256G>A ATRX(NM_000489.3):c.2000C>T (p.(Pro667Leu)), ATRX(NM_000489.5):c.2000C>T (p.P667L) - ATRX_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2000C>T r.(?) p.(Pro667Leu) - VUS g.76938748G>A g.77683256G>A ATRX(NM_000489.3):c.2000C>T (p.(Pro667Leu)), ATRX(NM_000489.5):c.2000C>T (p.P667L) - ATRX_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2001G>A r.(?) p.(Pro667=) - likely benign g.76938747C>T g.77683255C>T ATRX(NM_000489.5):c.2001G>A (p.P667=) - ATRX_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2001G>A r.(?) p.(Pro667=) - likely benign g.76938747C>T - ATRX(NM_000489.5):c.2001G>A (p.P667=) - ATRX_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2021C>T r.(?) p.(Thr674Ile) - likely benign g.76938727G>A g.77683235G>A - - ATRX_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 9 c.2095G>C r.(?) p.(Asp699His) - VUS g.76938653C>G g.77683161C>G - - ATRX_000286 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.2101C>T r.(?) p.(Arg701Cys) - VUS g.76938647G>A - ATRX(NM_000489.6):c.2101C>T (p.R701C) - ATRX_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2102G>A r.(?) p.(Arg701His) - likely pathogenic g.76938646C>T g.77683154C>T - - ATRX_000259 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044563 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. - c.2102G>A r.(?) p.(Arg701His) ACMG likely pathogenic g.76938646C>T g.77683154C>T NM_138270.3:c.1988G>A - ATRX_000259 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.2102G>C r.(?) p.(Arg701Pro) - VUS g.76938646C>G - ATRX(NM_000489.5):c.2102G>C (p.R701P) - ATRX_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2117G>C r.(?) p.(Ser706Thr) - likely benign g.76938631C>G g.77683139C>G ATRX(NM_000489.5):c.2117G>C (p.S706T) - ATRX_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2169G>C r.(?) p.(Glu723Asp) - likely benign g.76938579C>G g.77683087C>G ATRX(NM_000489.5):c.2169G>C (p.E723D) - ATRX_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2212C>G r.(?) p.(Leu738Val) - VUS g.76938536G>C - ATRX(NM_000489.5):c.2212C>G (p.L738V) - ATRX_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2273A>G r.(?) p.(His758Arg) - likely benign g.76938475T>C g.77682983T>C ATRX(NM_000489.5):c.2273A>G (p.H758R) - ATRX_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2325T>C r.(?) p.(Asp775=) - likely benign g.76938423A>G g.77682931A>G ATRX(NM_000489.5):c.2325T>C (p.D775=) - ATRX_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2342G>A r.(?) p.(Arg781Gln) - VUS g.76938406C>T - - - ATRX_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2402C>A r.(?) p.(Ser801Tyr) - VUS g.76938346G>T - ATRX(NM_000489.5):c.2402C>A (p.S801Y) - ATRX_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2540T>C r.(?) p.(Phe847Ser) - likely benign g.76938208A>G - ATRX(NM_000489.5):c.2540T>C (p.F847S) - ATRX_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2544C>T r.(?) p.(Asp848=) - likely benign g.76938204G>A g.77682712G>A ATRX(NM_000489.5):c.2544C>T (p.D848=) - ATRX_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2595C>G r.(?) p.(His865Gln) - likely benign g.76938153G>C g.77682661G>C ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2595C>G r.(?) p.(His865Gln) - benign g.76938153G>C g.77682661G>C ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2595C>G r.(?) p.(His865Gln) - benign g.76938153G>C g.77682661G>C ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2595C>G r.(?) p.(His865Gln) - benign g.76938153G>C - ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2648A>G r.(?) p.(Gln883Arg) - VUS g.76938100T>C g.77682608T>C ATRX(NM_000489.3):c.2648A>G (p.(Gln883Arg)), ATRX(NM_000489.5):c.2648A>G (p.Q883R) - ATRX_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2648A>G r.(?) p.(Gln883Arg) - likely benign g.76938100T>C g.77682608T>C ATRX(NM_000489.3):c.2648A>G (p.(Gln883Arg)), ATRX(NM_000489.5):c.2648A>G (p.Q883R) - ATRX_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2652G>C r.(?) p.(Glu884Asp) - likely benign g.76938096C>G g.77682604C>G ATRX(NM_000489.3):c.2652G>C (p.(Glu884Asp)) - ATRX_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2658G>C r.(?) p.(Glu886Asp) - VUS g.76938090C>G g.77682598C>G ATRX(NM_000489.3):c.2658G>C (p.(Glu886Asp)), ATRX(NM_000489.5):c.2658G>C (p.E886D) - ATRX_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2658G>C r.(?) p.(Glu886Asp) - likely benign g.76938090C>G g.77682598C>G ATRX(NM_000489.3):c.2658G>C (p.(Glu886Asp)), ATRX(NM_000489.5):c.2658G>C (p.E886D) - ATRX_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2692G>C r.(?) p.(Asp898His) - VUS g.76938056C>G - ATRX(NM_000489.6):c.2692G>C (p.D898H) - ATRX_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2697G>A r.(?) p.(Thr899=) - VUS g.76938051C>T - ATRX(NM_000489.5):c.2697G>A (p.T899=) - ATRX_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2701A>G r.(?) p.(Ile901Val) - likely benign g.76938047T>C g.77682555T>C ATRX(NM_000489.3):c.2701A>G (p.(Ile901Val)), ATRX(NM_000489.5):c.2701A>G (p.I901V) - ATRX_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2701A>G r.(?) p.(Ile901Val) - likely benign g.76938047T>C - ATRX(NM_000489.3):c.2701A>G (p.(Ile901Val)), ATRX(NM_000489.5):c.2701A>G (p.I901V) - ATRX_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2720G>A r.(?) p.(Arg907Gln) - likely benign g.76938028C>T g.77682536C>T ATRX(NM_000489.5):c.2720G>A (p.R907Q) - ATRX_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2720G>A r.(?) p.(Arg907Gln) - likely benign g.76938028C>T g.77682536C>T ATRX(NM_000489.5):c.2720G>A (p.R907Q) - ATRX_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2744G>C r.(?) p.(Ser915Thr) - likely benign g.76938004C>G g.77682512C>G ATRX(NM_000489.5):c.2744G>C (p.S915T) - ATRX_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2785C>G r.(?) p.(Gln929Glu) - benign g.76937963G>C g.77682471= ATRX(NM_000489.6):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2785C>G r.(?) p.(Gln929Glu) - benign g.76937963G>C g.77682471= ATRX(NM_000489.6):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2787G>C r.(?) p.(Gln929His) - VUS g.76937961C>G g.77682469C>G ATRX(NM_000489.3):c.2787G>C (p.(Gln929His)) - ATRX_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.2866_2868del r.(?) p.(Lys956del) - likely pathogenic g.76937883_76937885del g.77682391_77682393del ATRX K956del - ATRX_000228 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. - c.3067G>C r.(?) p.(Glu1023Gln) - VUS g.76937681C>G g.77682189C>G ATRX(NM_000489.3):c.3067G>C (p.(Glu1023Gln)), ATRX(NM_000489.5):c.3067G>C (p.E1023Q) - ATRX_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3067G>C r.(?) p.(Glu1023Gln) - VUS g.76937681C>G g.77682189C>G ATRX(NM_000489.3):c.3067G>C (p.(Glu1023Gln)), ATRX(NM_000489.5):c.3067G>C (p.E1023Q) - ATRX_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3091G>A r.(?) p.(Gly1031Ser) - likely benign g.76937657C>T g.77682165C>T ATRX(NM_000489.3):c.3091G>A (p.(Gly1031Ser)) - ATRX_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3145A>G r.(?) p.(Ile1049Val) - VUS g.76937603T>C g.77682111T>C ATRX(NM_000489.5):c.3145A>G (p.I1049V) - ATRX_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3173A>G r.(?) p.(Asp1058Gly) - VUS g.76937575T>C g.77682083T>C ATRX(NM_000489.5):c.3173A>G (p.D1058G) - ATRX_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3359A>T r.(?) p.(Asp1120Val) - VUS g.76937389T>A - ATRX(NM_000489.5):c.3359A>T (p.D1120V) - ATRX_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.3437C>A r.(?) p.(Thr1146Asn) - likely benign g.76937311G>T g.77681819G>T ATRX(NM_000489.3):c.3437C>A (p.(Thr1146Asn)) - ATRX_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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