Full data view for gene STAG2

Information The variants shown are described using the NM_001042750.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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     
+/. 15i_33i c.(1416+1_1417-212)_(3706-461_?3706-1)del r.? p.? Unknown - pathogenic (dominant) g.(?_123194862)_(123228761_?)del - del chrX:123194862-123228761 - STAG2_000047 0,034 Mb deletion STAG2 del ex15-32 PubMed: Yuan 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? Pat12 PubMed: Yuan 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.-98+274A>G r.(=) p.(=) Maternal (inferred) - VUS g.123155555A>G g.124021705A>G - - STAG2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.-97G>A r.(?) p.(=) Unknown - likely benign g.123156381G>A - STAG2(NM_001042750.2):c.-97G>A - STAG2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89T>C r.(?) p.(Ile30Thr) Unknown - VUS g.123159734T>C - - - STAG2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.205C>T r.(?) p.(Arg69*) Unknown - pathogenic (dominant) g.123164892C>T g.124031042C>T - - STAG2_000042 - PubMed: Mullegama 2017 - - De novo - - - - - DNA SEQ-NG - WES ? Pat1 PubMed: Mullegama 2017 2-generation family, 1 affected, unaffected; non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-?/. - c.288+918T>C r.(=) p.(=) Unknown - likely benign g.123165893T>C - STAG2(NM_001042750.2):c.288+918T>C - STAG2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.418C>T r.(?) p.(Gln140*) Unknown - pathogenic (dominant) g.123176451C>T g.124042601C>T - - STAG2_000045 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - - ? Pat7 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.476A>G r.(?) p.(Tyr159Cys) Unknown - VUS g.123179027A>G g.124045177A>G - - STAG2_000046 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - - ? Pat11 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.625G>T r.(?) p.(Asp209Tyr) Unknown - VUS g.123179176G>T - STAG2(NM_001042749.2):c.625G>T (p.D209Y) - STAG2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667+4G>A r.spl? p.? Unknown - likely benign g.123179222G>A - STAG2(NM_001042750.2):c.667+4G>A - STAG2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - likely benign g.123181290C>T g.124047440C>T STAG2(NM_001042749.1):c.754C>T (p.(Arg252Trp)) - STAG2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.775C>T r.(?) p.(Arg259*) Unknown ACMG pathogenic (dominant) g.123181311C>T g.124047461C>T - - STAG2_000061 ACMG: PVS1-very strong,PS2-moderate,PM2-supporting - - - De novo - - - - - DNA SEQ-NG-I amniotic fluid - HPE13 334050 - prenatal Dx F no ? (unknown) - - - - - 1 Andreas Laner
?/. - c.819+196G>A r.(=) p.(=) Maternal (inferred) - VUS g.123181551G>A g.124047701G>A - - STAG2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.819+196G>A r.(=) p.(=) Maternal (inferred) - VUS g.123181551G>A g.124047701G>A - - STAG2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.862A>G r.(?) p.(Ile288Val) Unknown - likely benign g.123182897A>G g.124049047A>G STAG2(NM_001042749.2):c.862A>G (p.I288V) - STAG2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018-3del r.spl? p.? Unknown - likely benign g.123184968del g.124051118del STAG2(NM_001042749.1):c.1018-3del (p.?) - STAG2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018-1del r.spl? p.? Unknown - VUS g.123184970del g.124051120del - - STAG2_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1297T>C r.(?) p.(Tyr433His) Unknown - VUS g.123190078T>C - STAG2(NM_001042750.1):c.1297T>C (p.(Tyr433His)) - STAG2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305-3C>A r.spl? p.? Unknown - likely benign g.123191713C>A - STAG2(NM_001042750.1):c.1305-3C>A (p.?) - STAG2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417-39A>C r.(=) p.(=) Maternal (inferred) - VUS g.123195035A>C g.124061185A>C - - STAG2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1417-39A>C r.(=) p.(=) Maternal (inferred) - VUS g.123195035A>C g.124061185A>C - - STAG2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1535-3T>A r.spl? p.? Unknown - likely benign g.123195618T>A g.124061768T>A STAG2(NM_001042749.2):c.1535-3T>A - STAG2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535-2dup r.spl? p.? Unknown - VUS g.123195619dup g.124061769dup STAG2(NM_001042749.1):c.1535-3_1535-2insA (p.?) - STAG2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1544_1547del r.(?) p.(Asp515Glyfs*6) Unknown - pathogenic g.123195630_123195633del - STAG2(NM_001042749.2):c.1544_1547delATAG (p.D515Gfs*6) - STAG2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1605T>A r.(?) p.(Cys535*) Unknown - pathogenic (dominant) g.123195691T>A g.124061841T>A - - STAG2_000048 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - - ? Pat8 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1658_1660delinsT r.(?) p.(Lys553Ilefs*6) Unknown - pathogenic (dominant) g.123196771_123196773delinsT g.124062921_124062923delinsT - - STAG2_000049 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - - ? Pat10 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1811G>A r.(?) p.(Arg604Gln) Unknown - VUS g.123197045G>A g.124063195G>A - - STAG2_000043 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - - ? Pat9 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1811G>A r.(?) p.(Arg604Gln) Unknown ACMG VUS g.123197045G>A g.124063195G>A - - STAG2_000043 - PubMed: Mullegama 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES ? Pat2 PubMed: Mullegama 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1840C>T r.(?) p.(Arg614*) Unknown - pathogenic g.123197716C>T - STAG2(NM_001042749.2):c.1840C>T (p.R614*) - STAG2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1849C>T r.(?) p.(Arg617Trp) Unknown - likely benign g.123197725C>T g.124063875C>T STAG2(NM_001042749.2):c.1849C>T (p.R617W) - STAG2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1913_1922del r.(?) p.(Ala638Valfs*10) Unknown ACMG VUS g.123197789_123197798del g.124063939_124063948del - - STAG2_000044 - PubMed: Mullegama 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES ? Pat3 PubMed: Mullegama 2017 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.2019G>A r.(?) p.(Leu673=) Unknown - likely benign g.123197895G>A - STAG2(NM_001042749.2):c.2019G>A (p.L673=) - STAG2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2067A>C r.(?) p.(Ser689=) Unknown - likely benign g.123199767A>C g.124065917A>C STAG2(NM_001042749.2):c.2067A>C (p.S689=) - STAG2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2097-10_2097-5del r.spl? p.? Unknown - likely benign g.123200015_123200020del - STAG2(NM_001042750.2):c.2097-10_2097-5del - STAG2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2097-4A>C r.spl? p.? Unknown - likely benign g.123200021A>C - - - STAG2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2132G>A r.(?) p.(Cys711Tyr) Unknown - VUS g.123200060G>A - STAG2(NM_001042749.2):c.2132G>A (p.C711Y) - STAG2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2265+196_2265+198del r.(=) p.(=) Maternal (inferred) - VUS g.123200482_123200484del g.124066632_124066634del - - STAG2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2265+196_2265+198del r.(=) p.(=) Maternal (inferred) - VUS g.123200482_123200484del g.124066632_124066634del - - STAG2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.2533+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.123205174G>A g.124071324G>A - - STAG2_000056 inherited from healthy mother, pathogenicity/exact relative contributions STAG2 and PTPN4 variants to phenotype challenging to disentangle Corona-Rivera et al. (not paper listed) - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient;PatA Corona-Rivera et al. (not paper listed), PubMed: Chmielewska 2024 2-generation family, 1 affected, mosaicism in mother F - Mexico Europe - - - - 1 Johan den Dunnen
-?/. - c.2534-6C>A r.(=) p.(=) Unknown - likely benign g.123210176C>A - STAG2(NM_001042750.2):c.2534-6C>A - STAG2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2857C>T r.(?) p.(Arg953Ter) Unknown - likely pathogenic g.123215311C>T g.124081461C>T - - STAG2_000036 data sharing 2 female patients with concordant less severe phenotype; functional data: studies in progress PubMed: Lefebvre 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
?/. - c.2858G>A r.(?) p.(Arg953Gln) Unknown - VUS g.123215312G>A - STAG2(NM_001042750.1):c.2858G>A (p.(Arg953Gln)) - STAG2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2962C>T r.(?) p.(Gln988*) Unknown - likely pathogenic g.123217308C>T - STAG2(NM_001042750.2):c.2962C>T (p.(Gln988*)) - STAG2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3232T>C r.(?) p.(Ser1078Pro) Unknown - likely benign g.123220575T>C g.124086725T>C STAG2(NM_001042749.2):c.3232T>C (p.S1078P) - STAG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3344T>C r.(?) p.(Met1115Thr) Unknown - VUS g.123224491T>C - STAG2(NM_001042749.2):c.3344T>C (p.M1115T) - STAG2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3442C>T r.(?) p.(His1148Tyr) Unknown - VUS g.123224589C>T - STAG2(NM_001042750.1):c.3442C>T (p.(His1148Tyr)) - STAG2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3443A>G r.(?) p.(His1148Arg) Unknown - VUS g.123224590A>G - STAG2(NM_001042750.2):c.3443A>G (p.(His1148Arg)) - STAG2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3486G>A r.(?) p.(Met1162Ile) Unknown - VUS g.123224722G>A g.124090872G>A STAG2(NM_001042749.2):c.3486G>A (p.M1162I) - STAG2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3582dup r.(?) p.(Arg1195Alafs*9) Unknown - pathogenic g.123227871dup g.124094021dup - - STAG2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3747T>C r.(?) p.(Pro1249=) Unknown - likely benign g.123229263T>C g.124095413T>C STAG2(NM_001042749.2):c.3747T>C (p.P1249=) - STAG2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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