Unique variants in the ATRX gene

Information The variants shown are described using the NM_000489.3 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.-14G>A r.(?) p.(=) - benign g.77041501C>T g.77786015C>T - - ATRX_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., +/. 6 2 c.109C>T r.(?) p.(Arg37*), p.(Arg37Ter), p.(Arg37* ) ACMG likely pathogenic, pathogenic (recessive), pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 VKGL data sharing initiative Nederland PubMed: Grozeva 2015, Journal: Grozeva 2015, PubMed: Redin 2014, PubMed: Squeo 2020 - rs122445108 Germline/De novo (untested), Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - 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
-?/. 1 - 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
+?/. 1 - 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
-/. 3 - c.228G>A r.(?) p.(Ser76=) - benign g.76953085C>T g.77697597C>T ATRX(NM_000489.3):c.228G>A (p.(=)), ATRX(NM_000489.5):c.228G>A (p.S76=) - ATRX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - 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
+/. 1 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
+?/. 1 - 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
+?/. 1 - 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
?/. 1 - 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
+?/. 1 - c.734T>A r.(?) p.(Leu245Gln) - likely pathogenic g.76940014A>T g.77684522A>T ATRX(NM_000489.4):c.734T>A (p.L245Q) - ATRX_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 3 - 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 PubMed: Zhu 2015 - - De novo, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+/. 1 - 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
-?/. 1 - c.846C>T r.(?) p.(Ser282=) - likely benign g.76939902G>A g.77684410G>A ATRX(NM_000489.4):c.846C>T (p.=) - ATRX_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - 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
-?/. 1 - c.1032C>T r.(?) p.(Ser344=) - likely benign g.76939716G>A - ATRX(NM_000489.4):c.1032C>T (p.S344=) - ATRX_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - c.1303A>G r.(?) p.(Ile435Val) - likely benign g.76939445T>C g.77683953T>C ATRX(NM_000489.4):c.1303A>G (p.I435V) - ATRX_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - 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
?/. 1 - 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
-?/. 2 - 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_000489.4):c.1633C>G (p.Q545E) - ATRX_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/. 1 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
+/. 1 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
+/. 2 9 c.1727C>A r.(?) p.(Ser576Ter), p.(Ser576* ) ACMG pathogenic g.76939021G>T g.77683529G>T - - ATRX_000220 VKGL data sharing initiative Nederland PubMed: Squeo 2020 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Nijmegen, Johan den Dunnen
-?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
?/., -?/. 2 - c.2000C>T r.(?) p.(Pro667Leu) - VUS, likely benign g.76938748G>A g.77683256G>A ATRX(NM_000489.3):c.2000C>T (p.(Pro667Leu)), ATRX(NM_000489.4):c.2000C>T (p.P667L) - ATRX_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.2001G>A r.(?) p.(Pro667=) - likely benign g.76938747C>T g.77683255C>T ATRX(NM_000489.4):c.2001G>A (p.P667=) - ATRX_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - 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
+?/. 1 - c.2102G>A r.(?) p.(Arg701His) - likely pathogenic g.76938646C>T g.77683154C>T - - ATRX_000259 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs797044563 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - 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
-?/. 1 - c.2169G>C r.(?) p.(Glu723Asp) - likely benign g.76938579C>G g.77683087C>G ATRX(NM_000489.4):c.2169G>C (p.E723D) - ATRX_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2273A>G r.(?) p.(His758Arg) - likely benign g.76938475T>C g.77682983T>C ATRX(NM_000489.4):c.2273A>G (p.H758R) - ATRX_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - 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
?/. 1 - c.2402C>A r.(?) p.(Ser801Tyr) - VUS g.76938346G>T - ATRX(NM_000489.4):c.2402C>A (p.S801Y) - ATRX_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2540T>C r.(?) p.(Phe847Ser) - likely benign g.76938208A>G - ATRX(NM_000489.4):c.2540T>C (p.F847S) - ATRX_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - 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
-/., -?/. 3 - c.2595C>G r.(?) p.(His865Gln) - benign, likely benign g.76938153G>C g.77682661G>C 1 more item - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/., -?/. 2 - c.2648A>G r.(?) p.(Gln883Arg) - VUS, 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_Leiden, VKGL-NL_Rotterdam
-?/. 1 - 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
?/., -?/. 2 - c.2658G>C r.(?) p.(Glu886Asp) - VUS, 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_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2701A>G r.(?) p.(Ile901Val) - likely benign g.76938047T>C g.77682555T>C ATRX(NM_000489.3):c.2701A>G (p.(Ile901Val)) - ATRX_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.2720G>A r.(?) p.(Arg907Gln) - likely benign g.76938028C>T g.77682536C>T ATRX(NM_000489.4):c.2720G>A (p.R907Q), ATRX(NM_000489.5):c.2720G>A (p.R907Q) - ATRX_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - 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
-/. 2 - c.2785C>G r.(?) p.(Gln929Glu) - benign g.76937963G>C g.77682471= ATRX(NM_000489.5):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - 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
?/. 1 - c.2830_2832del r.(?) p.(Glu944del) - VUS g.76937918_76937920del g.77682426_77682428del ATRX(NM_000489.5):c.2830_2832delGAA (p.E944del) - ATRX_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - 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
?/. 2 - 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, VKGL-NL_Leiden
-?/. 1 - 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
?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-?/. 1 - c.3449A>G r.(?) p.(Gln1150Arg) - likely benign g.76937299T>C g.77681807T>C ATRX(NM_000489.3):c.3449A>G (p.(Gln1150Arg)) - ATRX_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3505A>C r.(?) p.(Lys1169Gln) - VUS g.76937243T>G g.77681751T>G ATRX(NM_000489.3):c.3505A>C (p.(Lys1169Gln)) - ATRX_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.3541G>C r.(?) p.(Val1181Leu) - likely benign g.76937207C>G g.77681715C>G ATRX(NM_000489.5):c.3541G>C (p.V1181L) - ATRX_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.3736+61_3736+62del r.(=) p.(=) - benign g.76936951_76936952del g.77681459_77681460del ATRX(NM_000489.4):c.3736+61_3736+62delGT - ATRX_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 9i c.3736+63_3736+64del r.(=) p.(=) - likely benign g.76936949_76936950del g.77681457_77681458del - - ATRX_000148 - - - - Germline - - - - - Yu Sun
?/. 1 - c.3880G>C r.(?) p.(Asp1294His) - VUS g.76920197C>G g.77664708C>G ATRX(NM_000489.3):c.3880G>C (p.(Asp1294His)) - ATRX_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3913A>C r.(?) p.(Lys1305Gln) - likely benign g.76920164T>G g.77664675T>G ATRX(NM_000489.4):c.3913A>C (p.K1305Q) - ATRX_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.4120+6A>T r.(=) p.(=) - likely benign g.76918865T>A g.77663376T>A ATRX(NM_000489.4):c.4120+6A>T - ATRX_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.4329G>A r.(?) p.(Glu1443=) - likely benign g.76907832C>T g.77652342C>T ATRX(NM_000489.5):c.4329G>A (p.E1443=) - ATRX_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.4377_4379del r.(?) p.(Glu1464del) - benign, likely benign g.76907796_76907798del g.77652306_77652308del ATRX(NM_000489.3):c.4377_4379del (p.(Glu1464del)), ATRX(NM_000489.5):c.4377_4379delGGA (p.E1464del) - ATRX_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Groningen
-/. 1 - c.4635C>A r.(?) p.(Thr1545=) - benign g.76891470G>T g.77635979G>T ATRX(NM_000489.5):c.4635C>A (p.T1545=) - ATRX_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.4648G>A r.(?) p.(Val1550Met) - VUS g.76891457C>T g.77635966C>T - - ATRX_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.4696G>T r.(?) p.(Asp1566Tyr) - likely pathogenic g.76891409C>A g.77635918C>A ATRX D1566Y - ATRX_000227 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.4721G>A r.(?) p.(Cys1574Tyr) - pathogenic g.76890173C>T g.77634682C>T - - ATRX_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.4810-42T>A r.(?) p.(=) - likely benign g.76889242A>T g.77633754A>T - - ATRX_000249 variant segregating with clinical phenotype PubMed: Dias 2019 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.4862C>T r.(?) p.(Thr1621Met) - likely pathogenic g.76889148G>A g.77633660G>A ATRX(NM_000489.5):c.4862C>T (p.T1621M) - ATRX_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.4957-20T>C r.(=) p.(=) - likely benign g.76888892A>G g.77633404A>G ATRX(NM_000489.4):c.4957-20T>C - ATRX_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.5137C>T r.(?) p.(Pro1713Ser) - pathogenic g.76875998G>A g.77620530G>A - - ATRX_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.5175A>G r.(?) p.(Lys1725=) - likely benign g.76875960T>C g.77620492T>C ATRX(NM_000489.5):c.5175A>G (p.K1725=) - ATRX_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5212A>G r.(?) p.(Ile1738Val) - VUS g.76875923T>C g.77620455T>C - - ATRX_000229 variant not associated with phenotype PubMed: Pinz 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.5387A>G r.(?) p.(Asp1796Gly) - likely pathogenic g.76874335T>C g.77618867T>C - - ATRX_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.5522C>A r.(?) p.(Ser1841Tyr) - VUS g.76872125G>T g.77616657G>T ATRX(NM_000489.3):c.5522C>A (p.(Ser1841Tyr)) - ATRX_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5566+5A>C r.spl? p.? - VUS g.76872076T>G g.77616608T>G ATRX(NM_000489.3):c.5566+5A>C (p.?) - ATRX_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 8 - c.5579A>G r.(?) p.(Asn1860Ser) - benign, likely benign g.76856021T>C g.77600552T>C 1 more item - ATRX_000169 VKGL data sharing initiative Nederland, 3 heterozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs45439799 CLASSIFICATION record, Germline - 3/2787 individuals, 2/2787 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_Groningen
+?/. 1 - c.5666T>G r.(?) p.(Leu1889Trp) - likely pathogenic g.76855934A>C g.77600465A>C - - ATRX_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., -?/. 2 - c.5697+9G>A r.(=) p.(=) - VUS, likely benign g.76855894C>T - ATRX(NM_000489.3):c.5697+9G>A (p.(=)), ATRX(NM_000489.5):c.5697+9G>A - ATRX_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.5786A>G r.(?) p.(Lys1929Arg) - likely benign g.76855201T>C g.77599732T>C - - ATRX_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.5787-20G>T r.(=) p.(=) - likely benign g.76855069C>A g.77599600C>A ATRX(NM_000489.4):c.5787-20G>T - ATRX_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.5787-8_5787-5del r.spl? p.? - likely benign g.76855073_76855076del g.77599604_77599607del ATRX(NM_000489.4):c.5787-8_5787-5delGTTT, ATRX(NM_000489.5):c.5787-8_5787-5delGTTT - ATRX_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.5787-8_5787-5dup r.spl? p.? - likely benign g.76855073_76855076dup - ATRX(NM_000489.5):c.5787-5_5787-4insGTTT - ATRX_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.5957-1G>A r.spl? p.? - pathogenic g.76849320C>T g.77593850C>T ATRX(NM_000489.5):c.5957-1G>A - ATRX_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., -?/. 2 - c.5968T>A r.(?) p.(Ser1990Thr) - VUS, likely benign g.76849308A>T g.77593838A>T ATRX(NM_000489.4):c.5968T>A (p.S1990T), ATRX(NM_000489.5):c.5968T>A (p.S1990T) - ATRX_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.5974_5976del r.(?) p.(Ser1992del) - likely benign g.76849308_76849310del g.77593838_77593840del ATRX(NM_000489.5):c.5974_5976delTCT (p.S1992del) - ATRX_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 28 c.6244G>A r.(?) p.(Asp2082Asn) - likely pathogenic g.76829797C>T g.77574332C>T - - ATRX_000071 - - - - Germline yes - - - - Andreas Tzschach
./., +/. 2 28 c.6253C>T r.(?) p.(Arg2085Cys) - pathogenic g.76829788G>A g.77574323G>A ATRX R2085C - ATRX_000073 - PubMed: Hu 2016, PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline yes - - - - Johan den Dunnen
+/., +?/., ./. 5 28 c.6254G>A r.(?) p.(Arg2085His) ACMG pathogenic, likely pathogenic g.76829787C>T g.77574322C>T ATRX R2085H - ATRX_000209 VKGL data sharing initiative Nederland PubMed: Squeo 2020, PubMed: Grozeva 2015, Journal: Grozeva 2015, PubMed: Hu 2016 - - Germline/De novo (untested), CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 30 c.6530A>C r.(?) p.(Asp2177Ala) - likely pathogenic g.76813091T>G g.77557620T>G - - ATRX_000156 Mother showed unilateral X inactivation - - - Germline yes - - - - Karen Stals
+?/., +/. 2 - c.6532C>T r.(?) p.(Arg2178Trp) - likely pathogenic, pathogenic g.76813089G>A g.77557618G>A - - ATRX_000158 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Julien Masliah-Planchon, VKGL-NL_Nijmegen
-?/. 1 - c.6691C>T r.(?) p.(Leu2231=) - likely benign g.76812930G>A g.77557459G>A ATRX(NM_000489.5):c.6691C>T (p.L2231=) - ATRX_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.6811A>G r.(?) p.(Arg2271Gly) - pathogenic g.76778768T>C g.77523290T>C - - ATRX_000258 21 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs122445112 Germline - 21/2587 individuals - - - Mohammed Faruq
+?/. 1 - c.6850-2A>G r.spl p.? - likely pathogenic g.76777868T>C g.77522390T>C - - ATRX_000270 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.6863G>A r.(?) p.(Arg2288His) ACMG VUS g.76777853C>T g.77522375C>T - - ATRX_000157 - - - - Germline yes - - - - Bernt Popp
-?/. 2 - c.6869A>G r.(?) p.(Asn2290Ser) - likely benign g.76777847T>C g.77522369T>C ATRX(NM_000489.3):c.6869A>G (p.(Asn2290Ser)), ATRX(NM_000489.5):c.6869A>G (p.N2290S) - ATRX_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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