Full data view for gene ATRX

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

151 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-14G>A r.(?) p.(=) Unknown - benign g.77041501C>T g.77786015C>T - - ATRX_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.109C>T r.(?) p.(Arg37Ter) Unknown - pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.109C>T r.(?) p.(Arg37*) Maternal (confirmed) - pathogenic (recessive) g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Redin 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 225-gene ID panel ID APN-138 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother/sister M - France - - 0 - - 1 Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37*) Unknown - likely pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs122445108 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411171 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37*) Unknown - likely pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs122445108 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410920 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37*) Unknown - likely pathogenic g.76972632G>A g.77717155G>A - - ATRX_000224 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs122445108 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411170 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.166_167dup r.(?) p.(Met56Ilefs*2) Unknown - likely pathogenic g.76954084_76954085dup g.77698596_77698597dup - - ATRX_000273 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411068 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.189+7A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.213del r.(?) p.(Lys72Serfs*15) Unknown - likely pathogenic g.76953100del g.77697612del - - ATRX_000272 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411056 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-/. - c.228G>A r.(?) p.(Ser76=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.228G>A r.(?) p.(Ser76=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.228G>A r.(?) p.(Ser76=) Unknown - benign g.76953085C>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317A>T r.(?) p.(Asp106Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.533T>A r.(?) p.(Val178Asp) Maternal (confirmed) - pathogenic g.76944372A>T g.77688879A>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 r.(?) p.(Asn179Ser) Unknown - likely pathogenic g.76944369T>C g.77688876T>C - - ATRX_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.567C>G r.(?) p.(His189Gln) Unknown - likely pathogenic g.76944338G>C g.77688845G>C - - ATRX_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.661A>C r.(?) p.(Arg221=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.734T>A r.(?) p.(Leu245Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.736C>T r.(?) p.(Arg246Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.736C>T r.(?) p.(Arg246Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797A>G r.(?) p.(Tyr266Cys) Unknown - pathogenic g.76939951T>C g.77684459T>C - - ATRX_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.846C>T r.(?) p.(Ser282=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013C>G r.(?) p.(Ser338Cys) Maternal (confirmed) - VUS g.76939735G>C g.77684243G>C - - ATRX_000262 phenotype fits better with HCFC1 variant PubMed: Redin 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 229-gene ID panel ID APN-113 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother M - France - - 0 - - 2 Johan den Dunnen
-?/. - c.1032C>T r.(?) p.(Ser344=) Unknown - likely benign g.76939716G>A - ATRX(NM_000489.4):c.1032C>T (p.S344=) - ATRX_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1077G>T r.(?) p.(Leu359=) Unknown - likely benign g.76939671C>A - ATRX(NM_000489.5):c.1077G>T (p.L359=) - ATRX_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157C>T r.(?) p.(Ala386Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1287C>G r.(?) p.(Thr429=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1303A>G r.(?) p.(Ile435Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1366G>T r.(?) p.(Asp456Tyr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1423C>G r.(?) p.(His475Asp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1633C>G r.(?) p.(Gln545Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1633C>G r.(?) p.(Gln545Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1676C>T r.(?) p.(Ser559Leu) Maternal (confirmed) - pathogenic g.76939072G>A g.77683580G>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) - pathogenic g.76939069G>C g.77683577G>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 r.(?) p.(Ser576Ter) Unknown - pathogenic g.76939021G>T g.77683529G>T - - ATRX_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1727C>T r.(?) p.(Ser576Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1729A>G r.(?) p.(Lys577Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1880G>A r.(?) p.(Cys627Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2000C>T r.(?) p.(Pro667Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2000C>T r.(?) p.(Pro667Leu) Unknown - VUS 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2001G>A r.(?) p.(Pro667=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2021C>T r.(?) p.(Thr674Ile) Unknown - likely benign g.76938727G>A g.77683235G>A - - ATRX_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2102G>A r.(?) p.(Arg701His) Parent #1 - likely pathogenic g.76938646C>T g.77683154C>T - - ATRX_000259 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs797044563 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.2117G>C r.(?) p.(Ser706Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2169G>C r.(?) p.(Glu723Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2273A>G r.(?) p.(His758Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2325T>C r.(?) p.(Asp775=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2402C>A r.(?) p.(Ser801Tyr) Unknown - VUS g.76938346G>T - ATRX(NM_000489.4):c.2402C>A (p.S801Y) - ATRX_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2540T>C r.(?) p.(Phe847Ser) Unknown - likely benign g.76938208A>G - ATRX(NM_000489.4):c.2540T>C (p.F847S) - ATRX_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2544C>T r.(?) p.(Asp848=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2595C>G r.(?) p.(His865Gln) Unknown - likely benign g.76938153G>C g.77682661G>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 r.(?) p.(His865Gln) Unknown - benign g.76938153G>C g.77682661G>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 r.(?) p.(His865Gln) Unknown - benign g.76938153G>C g.77682661G>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 r.(?) p.(Gln883Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2648A>G r.(?) p.(Gln883Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2652G>C r.(?) p.(Glu884Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2658G>C r.(?) p.(Glu886Asp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2658G>C r.(?) p.(Glu886Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2701A>G r.(?) p.(Ile901Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2720G>A r.(?) p.(Arg907Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2720G>A r.(?) p.(Arg907Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2744G>C r.(?) p.(Ser915Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2785C>G r.(?) p.(Gln929Glu) Unknown - benign g.76937963G>C g.77682471= ATRX(NM_000489.5):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2785C>G r.(?) p.(Gln929Glu) Unknown - benign g.76937963G>C g.77682471= ATRX(NM_000489.5):c.2785C>G (p.Q929E) - ATRX_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2787G>C r.(?) p.(Gln929His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2830_2832del r.(?) p.(Glu944del) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2866_2868del r.(?) p.(Lys956del) Maternal (confirmed) - likely pathogenic g.76937883_76937885del g.77682391_77682393del 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 r.(?) p.(Glu1023Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3067G>C r.(?) p.(Glu1023Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3091G>A r.(?) p.(Gly1031Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3145A>G r.(?) p.(Ile1049Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3173A>G r.(?) p.(Asp1058Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3437C>A r.(?) p.(Thr1146Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3449A>G r.(?) p.(Gln1150Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3505A>C r.(?) p.(Lys1169Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3541G>C r.(?) p.(Val1181Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3541G>C r.(?) p.(Val1181Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3736+61_3736+62del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 9i c.3736+63_3736+64del r.(=) p.(=) Maternal (inferred) - likely benign g.76936949_76936950del g.77681457_77681458del - - 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+63_3736+64del r.(=) p.(=) Maternal (inferred) - likely benign g.76936949_76936950del g.77681457_77681458del - - 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 r.(?) p.(Asp1294His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3913A>C r.(?) p.(Lys1305Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4120+6A>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4329G>A r.(?) p.(Glu1443=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4377_4379del r.(?) p.(Glu1464del) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4377_4379del r.(?) p.(Glu1464del) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4377_4379del r.(?) p.(Glu1464del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4377_4379del r.(?) p.(Glu1464del) Unknown - likely benign 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 r.(?) p.(Thr1545=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4648G>A r.(?) p.(Val1550Met) Unknown - VUS g.76891457C>T g.77635966C>T - - ATRX_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.4696G>T r.(?) p.(Asp1566Tyr) Maternal (confirmed) - likely pathogenic g.76891409C>A g.77635918C>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 r.(?) p.(Cys1574Tyr) Unknown - pathogenic g.76890173C>T g.77634682C>T - - ATRX_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4810-42T>A r.(?) p.(=) Maternal (inferred) - likely benign 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 r.(?) p.(Thr1621Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4957-20T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5137C>T r.(?) p.(Pro1713Ser) Unknown - pathogenic g.76875998G>A g.77620530G>A - - ATRX_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5175A>G r.(?) p.(Lys1725=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5212A>G r.(?) p.(Ile1738Val) Maternal (confirmed) - VUS g.76875923T>C g.77620455T>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 r.(?) p.(Asp1796Gly) Unknown - likely pathogenic g.76874335T>C g.77618867T>C - - ATRX_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.5522C>A r.(?) p.(Ser1841Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »