Full data view for gene GATA1

Information The variants shown are described using the NM_002049.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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     
?/. - c.-19-70dup r.(=) p.(=) Maternal (inferred) - VUS g.48649428dup g.48791021dup - - GATA1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-70dup r.(=) p.(=) Maternal (inferred) - VUS g.48649428dup g.48791021dup - - GATA1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-70dup r.(=) p.(=) Maternal (inferred) - VUS g.48649428dup g.48791021dup - - GATA1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-70dup r.(=) p.(=) Maternal (inferred) - VUS g.48649428dup g.48791021dup - - GATA1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-49T>G r.(=) p.(=) Maternal (inferred) - VUS g.48649449T>G g.48791042= - - GATA1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-49T>G r.(=) p.(=) Maternal (inferred) - VUS g.48649449T>G g.48791042= - - GATA1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-42T>G r.(=) p.(=) Maternal (inferred) - VUS g.48649456T>G g.48791049= - - GATA1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-19-42T>G r.(=) p.(=) Maternal (inferred) - VUS g.48649456T>G g.48791049= - - GATA1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.-19-2A>T r.spl? p.? Unknown - likely pathogenic g.48649496A>T - - - GATA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(?) p.0? Parent #1 - pathogenic (dominant) g.48649518T>C g.48791111T>C - - GATA1_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA212 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+?/. - c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.48649519G>A - - - GATA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113C>T r.(?) p.(Pro38Leu) Unknown - likely benign g.48649629C>T g.48791222C>T GATA1(NM_002049.3):c.113C>T (p.P38L, p.(Pro38Leu)), GATA1(NM_002049.4):c.113C>T (p.P38L) - GATA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113C>T r.(?) p.(Pro38Leu) Unknown - VUS g.48649629C>T g.48791222C>T GATA1(NM_002049.3):c.113C>T (p.P38L, p.(Pro38Leu)), GATA1(NM_002049.4):c.113C>T (p.P38L) - GATA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113C>T r.(?) p.(Pro38Leu) Unknown - likely benign g.48649629C>T - GATA1(NM_002049.3):c.113C>T (p.P38L, p.(Pro38Leu)), GATA1(NM_002049.4):c.113C>T (p.P38L) - GATA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.150del r.(?) p.(Ser51Alafs*86) Unknown - pathogenic g.48649666del - - - GATA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150G>A r.(?) p.(Pro50=) Unknown - likely benign g.48649666G>A - GATA1(NM_002049.3):c.150G>A (p.P50=) - GATA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163G>A r.(?) p.(Ala55Thr) Unknown - likely benign g.48649679G>A g.48791272G>A GATA1(NM_002049.3):c.163G>A (p.A55T) - GATA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163G>A r.(?) p.(Ala55Thr) Unknown - likely benign g.48649679G>A g.48791272G>A GATA1(NM_002049.3):c.163G>A (p.A55T) - GATA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.173_174insCAGC r.(?) p.(Ala59Serfs*10) Unknown - pathogenic g.48649689_48649690insCAGC - GATA1(NM_002049.4):c.173_174insCAGC (p.A59Sfs*10) - GATA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174G>A r.(?) p.(Ala58=) Unknown - likely benign g.48649690G>A - GATA1(NM_002049.3):c.174G>A (p.A58=) - GATA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196G>A r.(?) p.(Ala66Thr) Unknown - likely benign g.48649712G>A g.48791305G>A - - GATA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219A>G r.(?) p.(Pro73=) Unknown - likely benign g.48649735A>G g.48791328A>G - - GATA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220G>C r.(?) p.(Val74Leu) Parent #1 - pathogenic (dominant) g.48649736G>C g.48791329G>C - - GATA1_000015 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA004 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.220G>C r.(?) p.(Val74Leu) Parent #1 - pathogenic (dominant) g.48649736G>C g.48791329G>C - - GATA1_000015 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA005 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.220+1del r.spl? p.(Val74Serfs*63) Parent #1 - pathogenic (dominant) g.48649737del g.48791330del g.48649736del - GATA1_000016 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA150 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
-?/. - c.338G>A r.(?) p.(Arg113His) Unknown - likely benign g.48650368G>A - GATA1(NM_002049.3):c.338G>A (p.R113H) - GATA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>T r.(?) p.(Asp115Tyr) Unknown - VUS g.48650373G>T g.48791966G>T GATA1(NM_002049.3):c.343G>T (p.D115Y) - GATA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479A>G r.(?) p.(Asn160Ser) Unknown - VUS g.48650509A>G g.48792102A>G GATA1(NM_002049.3):c.479A>G (p.(Asn160Ser)) - GATA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571C>T r.(?) p.(Arg191Cys) Unknown - likely benign g.48650601C>T - GATA1(NM_002049.3):c.571C>T (p.R191C) - GATA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_599-2)_(744+2_?)del r.? p.? Unknown - likely pathogenic g.(?_48650728)_(48650877_?)del - - - GATA1_000017 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel79 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - pathogenic g.48650778G>A g.48792371G>A GATA1(NM_002049.3):c.647G>A (p.R216Q) - GATA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - pathogenic g.48650778G>A g.48792371G>A GATA1(NM_002049.3):c.647G>A (p.R216Q) - GATA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.740G>A r.(?) p.(Arg247His) Unknown - likely benign g.48650871G>A g.48792464G>A GATA1(NM_002049.3):c.740G>A (p.(Arg247His)) - GATA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.757C>T r.(?) p.(Arg253Trp) Maternal (confirmed) - likely pathogenic (recessive) g.48651591C>T g.48793184C>T - - GATA1_000032 ACMG PM1, PM2, PP3, PP4 PubMed: Schuermans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat12 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - 1 Johan den Dunnen
-?/. - c.870+8C>T r.(=) p.(=) Unknown - likely benign g.48651712C>T - GATA1(NM_002049.3):c.870+8C>T - GATA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023C>T r.(?) p.(Ser341=) Unknown - likely benign g.48652352C>T g.48793945C>T GATA1(NM_002049.3):c.1023C>T (p.S341=) - GATA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096G>C r.(?) p.(Gly366Arg) Unknown - VUS g.48652425G>C - GATA1(NM_002049.4):c.1096G>C (p.(Gly366Arg)) - GATA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157T>C r.(?) p.(Leu386Pro) Unknown - likely benign g.48652486T>C g.48794079T>C GATA1(NM_002049.3):c.1157T>C (p.L386P) - GATA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222del r.(?) p.(Val408Trpfs*24) Unknown - VUS g.48652551del - GATA1(NM_002049.3):c.1222delG (p.V408Wfs*24) - GATA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229C>T r.(?) p.(Pro410Leu) Unknown - VUS g.48652558C>T - GATA1(NM_002049.3):c.1229C>T (p.P410L) - GATA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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