Full data view for gene ATRX

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

121 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-14G>A benign r.(?) p.(=) Unknown g.77041501C>T - - - ATRX_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.109C>T pathogenic r.(?) p.(Arg37*) Unknown g.76972632G>A - - - ATRX_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.189+7A>G likely benign r.(=) p.(=) Unknown g.76954055T>C - ATRX(NM_000489.3):c.189+7A>G (p.(=)) - ATRX_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.228G>A benign r.(?) p.(=) Unknown g.76953085C>T - ATRX(NM_000489.5):c.228G>A (p.S76=) - ATRX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.228G>A benign r.(?) p.(=) Unknown g.76953085C>T - ATRX(NM_000489.5):c.228G>A (p.S76=) - ATRX_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.317A>T VUS r.(?) p.(Asp106Val) Unknown g.76952118T>A - ATRX(NM_000489.3):c.317A>T (p.(Asp106Val)) - ATRX_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.533T>A - r.(?) p.(Val178Asp) Maternal (confirmed) g.76944372A>T - NM_000489: c.T533A; p.V178D - ATRX_000160 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB6085 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 2 Johan den Dunnen
+?/. - c.536A>G likely pathogenic r.(?) p.(Asn179Ser) Unknown g.76944369T>C - - - ATRX_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.567C>G likely pathogenic r.(?) p.(His189Gln) Unknown g.76944338G>C - - - ATRX_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.734T>A likely pathogenic r.(?) p.(Leu245Gln) Unknown g.76940014A>T - ATRX(NM_000489.4):c.734T>A (p.L245Q) - ATRX_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.736C>T pathogenic r.(?) p.(Arg246Cys) Unknown g.76940012G>A - ATRX(NM_000489.5):c.736C>T (p.R246C) - ATRX_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.736C>T pathogenic r.(?) p.(Arg246Cys) Unknown g.76940012G>A - ATRX(NM_000489.5):c.736C>T (p.R246C) - ATRX_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797A>G pathogenic r.(?) p.(Tyr266Cys) Unknown g.76939951T>C - - - ATRX_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.846C>T likely benign r.(?) p.(=) Unknown g.76939902G>A - ATRX(NM_000489.4):c.846C>T (p.=) - ATRX_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157C>T likely benign r.(?) p.(Ala386Val) Unknown g.76939591G>A - ATRX(NM_000489.5):c.1157C>T (p.A386V) - ATRX_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1287C>G likely benign r.(?) p.(=) Unknown g.76939461G>C - ATRX(NM_000489.5):c.1287C>G (p.T429=) - ATRX_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1303A>G likely benign r.(?) p.(Ile435Val) Unknown g.76939445T>C - ATRX(NM_000489.4):c.1303A>G (p.I435V) - ATRX_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1366G>T VUS r.(?) p.(Asp456Tyr) Unknown g.76939382C>A - ATRX(NM_000489.5):c.1366G>T (p.D456Y) - ATRX_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1423C>G VUS r.(?) p.(His475Asp) Unknown g.76939325G>C - ATRX(NM_000489.3):c.1423C>G (p.(His475Asp)) - ATRX_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1633C>G likely benign r.(?) p.(Gln545Glu) Unknown g.76939115G>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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1633C>G likely benign r.(?) p.(Gln545Glu) Unknown g.76939115G>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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1676C>T - r.(?) p.(Ser559Leu) Maternal (confirmed) g.76939072G>A - NM_000489: c.C1676T; p.S559L - ATRX_000159 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB6530 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 1 Johan den Dunnen
+/. 9 c.1679C>G - r.(?) p.(Ser560Cys) Maternal (confirmed) g.76939069G>C - - - ATRX_000155 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/. - c.1727C>A pathogenic r.(?) p.(Ser576*) Unknown g.76939021G>T - - - ATRX_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1727C>T likely benign r.(?) p.(Ser576Leu) Unknown g.76939021G>A - ATRX(NM_000489.3):c.1727C>T (p.(Ser576Leu)) - ATRX_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1729A>G VUS r.(?) p.(Lys577Glu) Unknown g.76939019T>C - ATRX(NM_000489.3):c.1729A>G (p.(Lys577Glu)) - ATRX_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1880G>A likely benign r.(?) p.(Cys627Tyr) Unknown g.76938868C>T - ATRX(NM_000489.5):c.1880G>A (p.C627Y) - ATRX_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2000C>T likely benign r.(?) p.(Pro667Leu) Unknown g.76938748G>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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2000C>T VUS r.(?) p.(Pro667Leu) Unknown g.76938748G>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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2001G>A likely benign r.(?) p.(=) Unknown g.76938747C>T - ATRX(NM_000489.4):c.2001G>A (p.P667=) - ATRX_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2021C>T likely benign r.(?) p.(Thr674Ile) Unknown g.76938727G>A - - - ATRX_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2117G>C likely benign r.(?) p.(Ser706Thr) Unknown g.76938631C>G - ATRX(NM_000489.5):c.2117G>C (p.S706T) - ATRX_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2169G>C likely benign r.(?) p.(Glu723Asp) Unknown g.76938579C>G - ATRX(NM_000489.4):c.2169G>C (p.E723D) - ATRX_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2273A>G likely benign r.(?) p.(His758Arg) Unknown g.76938475T>C - ATRX(NM_000489.4):c.2273A>G (p.H758R) - ATRX_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2325T>C likely benign r.(?) p.(=) Unknown g.76938423A>G - ATRX(NM_000489.5):c.2325T>C (p.D775=) - ATRX_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2544C>T likely benign r.(?) p.(=) Unknown g.76938204G>A - ATRX(NM_000489.5):c.2544C>T (p.D848=) - ATRX_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2595C>G likely benign r.(?) p.(His865Gln) Unknown g.76938153G>C - ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.4):c.2595C>G (p.H865Q), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2595C>G benign r.(?) p.(His865Gln) Unknown g.76938153G>C - ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.4):c.2595C>G (p.H865Q), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2595C>G benign r.(?) p.(His865Gln) Unknown g.76938153G>C - ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.4):c.2595C>G (p.H865Q), ATRX(NM_000489.5):c.2595C>G (p.H865Q) - ATRX_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2648A>G VUS r.(?) p.(Gln883Arg) Unknown g.76938100T>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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2648A>G likely benign r.(?) p.(Gln883Arg) Unknown g.76938100T>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2652G>C likely benign r.(?) p.(Glu884Asp) Unknown g.76938096C>G - ATRX(NM_000489.3):c.2652G>C (p.(Glu884Asp)) - ATRX_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2658G>C VUS r.(?) p.(Glu886Asp) Unknown g.76938090C>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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2658G>C likely benign r.(?) p.(Glu886Asp) Unknown g.76938090C>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2701A>G likely benign r.(?) p.(Ile901Val) Unknown g.76938047T>C - ATRX(NM_000489.3):c.2701A>G (p.(Ile901Val)) - ATRX_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2720G>A likely benign r.(?) p.(Arg907Gln) Unknown g.76938028C>T - ATRX(NM_000489.5):c.2720G>A (p.R907Q) - ATRX_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2744G>C likely benign r.(?) p.(Ser915Thr) Unknown g.76938004C>G - ATRX(NM_000489.5):c.2744G>C (p.S915T) - ATRX_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2785C>G benign r.(?) p.(Gln929Glu) Unknown g.76937963G>C - ATRX(NM_000489.5):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2785C>G benign r.(?) p.(Gln929Glu) Unknown g.76937963G>C - ATRX(NM_000489.5):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2787G>C VUS r.(?) p.(Gln929His) Unknown g.76937961C>G - ATRX(NM_000489.3):c.2787G>C (p.(Gln929His)) - ATRX_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2830_2832del VUS r.(?) p.(Glu944del) Unknown g.76937918_76937920del - ATRX(NM_000489.5):c.2830_2832delGAA (p.E944del) - ATRX_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2863_2865del - r.(?) p.(Lys956del) Maternal (confirmed) g.76937883_76937885del - ATRX K956del - ATRX_000228 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU54 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
?/. - c.3067G>C VUS r.(?) p.(Glu1023Gln) Unknown g.76937681C>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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3067G>C VUS r.(?) p.(Glu1023Gln) Unknown g.76937681C>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3091G>A likely benign r.(?) p.(Gly1031Ser) Unknown g.76937657C>T - ATRX(NM_000489.3):c.3091G>A (p.(Gly1031Ser)) - ATRX_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3145A>G VUS r.(?) p.(Ile1049Val) Unknown g.76937603T>C - ATRX(NM_000489.5):c.3145A>G (p.I1049V) - ATRX_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3173A>G VUS r.(?) p.(Asp1058Gly) Unknown g.76937575T>C - ATRX(NM_000489.5):c.3173A>G (p.D1058G) - ATRX_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3449A>G likely benign r.(?) p.(Gln1150Arg) Unknown g.76937299T>C - ATRX(NM_000489.3):c.3449A>G (p.(Gln1150Arg)) - ATRX_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3505A>C VUS r.(?) p.(Lys1169Gln) Unknown g.76937243T>G - ATRX(NM_000489.3):c.3505A>C (p.(Lys1169Gln)) - ATRX_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3541G>C likely benign r.(?) p.(Val1181Leu) Unknown g.76937207C>G - ATRX(NM_000489.5):c.3541G>C (p.V1181L) - ATRX_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3541G>C likely benign r.(?) p.(Val1181Leu) Unknown g.76937207C>G - ATRX(NM_000489.5):c.3541G>C (p.V1181L) - ATRX_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3736+61_3736+62del benign r.(=) p.(=) Unknown g.76936951_76936952del - ATRX(NM_000489.4):c.3736+61_3736+62delGT - ATRX_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 9i c.3736+62_3736+63del - r.(?) p.(=) Maternal (inferred) g.76936949_76936950del - - - ATRX_000148 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.3736+62_3736+63del - r.(?) p.(=) Maternal (inferred) g.76936949_76936950del - - - ATRX_000148 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3880G>C VUS r.(?) p.(Asp1294His) Unknown g.76920197C>G - ATRX(NM_000489.3):c.3880G>C (p.(Asp1294His)) - ATRX_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3913A>C likely benign r.(?) p.(Lys1305Gln) Unknown g.76920164T>G - ATRX(NM_000489.4):c.3913A>C (p.K1305Q) - ATRX_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4120+6A>T likely benign r.(=) p.(=) Unknown g.76918865T>A - ATRX(NM_000489.4):c.4120+6A>T - ATRX_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4329G>A likely benign r.(?) p.(=) Unknown g.76907832C>T - ATRX(NM_000489.5):c.4329G>A (p.E1443=) - ATRX_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4377_4379del benign r.(?) p.(Glu1464del) Unknown g.76907796_76907798del - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4377_4379del likely benign r.(?) p.(Glu1464del) Unknown g.76907796_76907798del - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4377_4379del benign r.(?) p.(Glu1464del) Unknown g.76907796_76907798del - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4635C>A benign r.(?) p.(=) Unknown g.76891470G>T - ATRX(NM_000489.5):c.4635C>A (p.T1545=) - ATRX_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4648G>A VUS r.(?) p.(Val1550Met) Unknown g.76891457C>T - - - ATRX_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.4696G>T - r.(?) p.(Asp1566Tyr) Maternal (confirmed) g.76891409C>A - ATRX D1566Y - ATRX_000227 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamL48 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
+/. - c.4721G>A pathogenic r.(?) p.(Cys1574Tyr) Unknown g.76890173C>T - - - ATRX_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4810-42T>A likely benign r.(?) p.(=) Maternal (inferred) g.76889242A>T g.77633754A>T - - ATRX_000249 variant segregating with clinical phenotype PubMed: Dias 2019 - - Germline yes - - 0 - DNA SEQ-NG - WES ID Fam6PatIV1 PubMed: Dias 2019 - M yes Egypt - - 0 - - 2 Caroline Dias
+?/. - c.4862C>T likely pathogenic r.(?) p.(Thr1621Met) Unknown g.76889148G>A - ATRX(NM_000489.5):c.4862C>T (p.T1621M) - ATRX_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4957-20T>C likely benign r.(=) p.(=) Unknown g.76888892A>G - ATRX(NM_000489.4):c.4957-20T>C - ATRX_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5137C>T pathogenic r.(?) p.(Pro1713Ser) Unknown g.76875998G>A - - - ATRX_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5175A>G likely benign r.(?) p.(=) Unknown g.76875960T>C - ATRX(NM_000489.5):c.5175A>G (p.K1725=) - ATRX_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5212A>G - r.(?) p.(Ile1738Val) Maternal (confirmed) g.76875923T>C - - - ATRX_000229 variant not associated with phenotype PubMed: Pinz 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? 29446546-Pat1 PubMed: Pinz 2018 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - 0 - - 1 Johan den Dunnen
+?/. - c.5387A>G likely pathogenic r.(?) p.(Asp1796Gly) Unknown g.76874335T>C - - - ATRX_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.5522C>A VUS r.(?) p.(Ser1841Tyr) Unknown g.76872125G>T - ATRX(NM_000489.3):c.5522C>A (p.(Ser1841Tyr)) - ATRX_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5566+5A>C VUS r.spl? p.? Unknown g.76872076T>G - ATRX(NM_000489.3):c.5566+5A>C (p.?) - ATRX_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5579A>G likely benign r.(?) p.(Asn1860Ser) Unknown g.76856021T>C - ATRX(NM_000489.4):c.5579A>G (p.N1860S), ATRX(NM_000489.5):c.5579A>G (p.N1860S) - ATRX_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5579A>G likely benign r.(?) p.(Asn1860Ser) Unknown g.76856021T>C - ATRX(NM_000489.4):c.5579A>G (p.N1860S), ATRX(NM_000489.5):c.5579A>G (p.N1860S) - ATRX_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.5579A>G benign r.(?) p.(Asn1860Ser) Unknown g.76856021T>C - ATRX(NM_000489.4):c.5579A>G (p.N1860S), ATRX(NM_000489.5):c.5579A>G (p.N1860S) - ATRX_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.5579A>G benign r.(?) p.(Asn1860Ser) Unknown g.76856021T>C - ATRX(NM_000489.4):c.5579A>G (p.N1860S), ATRX(NM_000489.5):c.5579A>G (p.N1860S) - ATRX_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5579A>G likely benign r.(?) p.(Asn1860Ser) Unknown g.76856021T>C - ATRX(NM_000489.4):c.5579A>G (p.N1860S), ATRX(NM_000489.5):c.5579A>G (p.N1860S) - ATRX_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5666T>G likely pathogenic r.(?) p.(Leu1889Trp) Unknown g.76855934A>C - - - ATRX_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5786A>G likely benign r.(?) p.(Lys1929Arg) Unknown g.76855201T>C - - - ATRX_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5787-20G>T likely benign r.(=) p.(=) Unknown g.76855069C>A - ATRX(NM_000489.4):c.5787-20G>T - ATRX_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5787-8_5787-5del likely benign r.spl? p.? Unknown g.76855073_76855076del - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5787-8_5787-5del likely benign r.spl? p.? Unknown g.76855073_76855076del - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5787-8_5787-5del likely benign r.spl? p.? Unknown g.76855073_76855076del - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5957-1G>A pathogenic r.spl? p.? Unknown g.76849320C>T - ATRX(NM_000489.5):c.5957-1G>A - ATRX_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5968T>A likely benign r.(?) p.(Ser1990Thr) Unknown g.76849308A>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5968T>A VUS r.(?) p.(Ser1990Thr) Unknown g.76849308A>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5974_5976del likely benign r.(?) p.(Ser1992del) Unknown g.76849308_76849310del - ATRX(NM_000489.5):c.5974_5976delTCT (p.S1992del) - ATRX_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 28 c.6244G>A - r.(?) p.(Asp2082Asn) Maternal (confirmed) g.76829797C>T - - - ATRX_000071 - - - - Germline yes - - 0 - DNA SEQ-NG blood - ID - - - M no - - - 0 - - 1 Andreas Tzschach
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