Full data view for gene GATA2


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_001145661.1 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
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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.-4803G>A r.(?) p.(=) Unknown - VUS g.128211741C>T - GATA2(NM_032638.4):c.-46+1G>A - GATA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4791C>T r.(?) p.(=) Unknown - likely benign g.128211729G>A g.128492886G>A GATA2(NM_032638.4):c.-46+13C>T - GATA2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.-200_871+527del r.spl? p.(0) Parent #1 - pathogenic g.128204049_128206714del g.128485206_128487871del 1-200_871+527del2033 (M1del290) - GATA2_000010 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0004 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+/? 2 c.-200_871+527del r.spl? p.(0) Parent #1 - pathogenic g.128204049_128206714del g.128485206_128487871del 1-200_871+527del2033 - GATA2_000010 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0004 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
-/. - c.15C>G r.(?) p.(Pro5=) Unknown - benign g.128205860G>C g.128487017G>C GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=) - GATA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15C>G r.(?) p.(Pro5=) Unknown - benign g.128205860G>C g.128487017G>C GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=) - GATA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15C>G r.(?) p.(Pro5=) Unknown - benign g.128205860G>C g.128487017G>C GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=) - GATA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15C>G r.(?) p.(Pro5=) Unknown - benign g.128205860G>C g.128487017G>C GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=) - GATA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15C>G r.(?) p.(Pro5=) Unknown - benign g.128205860G>C g.128487017G>C GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=) - GATA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.30G>T r.(?) p.(Trp10Cys) Unknown - VUS g.128205845C>A g.128487002C>A GATA2(NM_001145661.1):c.30G>T (p.W10C), GATA2(NM_032638.4):c.30G>T (p.(Trp10Cys)), GATA2(NM_032638.5):c.30G>T (p.W10C) - GATA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.30G>T r.(?) p.(Trp10Cys) Unknown - VUS g.128205845C>A - GATA2(NM_001145661.1):c.30G>T (p.W10C), GATA2(NM_032638.4):c.30G>T (p.(Trp10Cys)), GATA2(NM_032638.5):c.30G>T (p.W10C) - GATA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.30G>T r.(?) p.(Trp10Cys) Unknown - VUS g.128205845C>A - GATA2(NM_001145661.1):c.30G>T (p.W10C), GATA2(NM_032638.4):c.30G>T (p.(Trp10Cys)), GATA2(NM_032638.5):c.30G>T (p.W10C) - GATA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.58C>T r.(?) p.(Gln20*) Unknown ACMG pathogenic g.128205817G>A - - - GATA2_000079 - - - - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon UCDMX004_S4 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
-?/. - c.66C>G r.(?) p.(=) Unknown - likely benign g.128205809G>C - GATA2(NM_032638.5):c.66C>G (p.P22=) - GATA2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77A>C r.(?) p.(His26Pro) Unknown - VUS g.128205798T>G g.128486955T>G GATA2(NM_001145661.1):c.77A>C (p.H26P) - GATA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.83del r.(?) p.(Gly28AlafsTer52) Unknown - pathogenic g.128205794del g.128486951del GATA2(NM_001145661.1):c.83delG (p.G28Afs*52) - GATA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121C>G r.(?) p.(Pro41Ala) Unknown - VUS g.128205754G>C g.128486911G>C GATA2(NM_001145661.1):c.121C>G (p.P41A), GATA2(NM_032638.5):c.121C>G (p.P41A) - GATA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121C>G r.(?) p.(Pro41Ala) Unknown - VUS g.128205754G>C - GATA2(NM_001145661.1):c.121C>G (p.P41A), GATA2(NM_032638.5):c.121C>G (p.P41A) - GATA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121C>G r.(?) p.(Pro41Ala) Unknown - VUS g.128205754G>C - GATA2(NM_001145661.1):c.121C>G (p.P41A), GATA2(NM_032638.5):c.121C>G (p.P41A) - GATA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123T>A r.(?) p.(Pro41=) Unknown - likely benign g.128205752A>T - GATA2(NM_001145661.1):c.123T>A (p.P41=) - GATA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.230-12_230-9del r.(=) p.(=) Unknown - likely benign g.128205221_128205224del - GATA2(NM_032638.4):c.230-12_230-9delCTTT - GATA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.232dup r.(?) p.(Arg78Profs*107) Maternal (confirmed) - likely pathogenic (dominant) g.128205211dup g.128486368dup - - GATA2_000019 - PubMed: Ostergaard 2011 - - Germline - 1/300 - - - DNA SEQ-NG-I - - Emberger syndrome - PubMed: Mansour 2010 3 affected family members M - (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/? 4 c.243_244delinsGC r.(?) p.(Gly81fs*) Parent #1 - pathogenic g.128205197_128205198delinsGC g.128486354_128486355delinsGC 243_244delAinsGC - GATA2_000007 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0006 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
?/. - c.302G>A r.(?) p.(Gly101Asp) Unknown - VUS g.128205139C>T - GATA2(NM_032638.5):c.302G>A (p.G101D) - GATA2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.312_313dup r.(?) p.(Leu105Profs*15) Unknown - likely pathogenic (dominant) g.128205129_128205130dup g.128486286_128486287dup - - GATA2_000018 - PubMed: Ostergaard 2011 - - Germline - 1/300 - - - DNA SEQ-NG-I - - Emberger syndrome - PubMed: Mansour 2010 5 affected family members M - (United Kingdom (Great Britain)) European - - - - 1 LOVD
-?/. - c.333C>T r.(?) p.(=) Unknown - likely benign g.128205108G>A - GATA2(NM_032638.5):c.333C>T (p.H111=) - GATA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337_339del r.(?) p.(His113del) Both (homozygous) - VUS g.128205109_128205111del g.128486266_128486268del - - GATA2_000065 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHAPLE Fam3Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.358C>T r.(?) p.(Pro120Ser) Unknown - VUS g.128205083G>A - GATA2(NM_032638.5):c.358C>T (p.(Pro120Ser), p.P120S) - GATA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358C>T r.(?) p.(Pro120Ser) Unknown - VUS g.128205083G>A - GATA2(NM_032638.5):c.358C>T (p.(Pro120Ser), p.P120S) - GATA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.410C>A r.(?) p.(Pro137Gln) Unknown - likely benign g.128205031G>T g.128486188G>T GATA2(NM_032638.5):c.410C>A (p.P137Q) - GATA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.413T>C r.(?) p.(Leu138Pro) Unknown - likely benign g.128205028A>G - GATA2(NM_032638.4):c.413T>C (p.L138P) - GATA2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414C>A r.(?) p.(Leu138=) Unknown - likely benign g.128205027G>T g.128486184G>T GATA2(NM_032638.5):c.414C>A (p.L138=) - GATA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423C>T r.(?) p.(Tyr141=) Unknown - likely benign g.128205018G>A - GATA2(NM_032638.5):c.423C>T (p.Y141=) - GATA2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - likely benign g.128204996C>T g.128486153C>T GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R) - GATA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - likely benign g.128204996C>T g.128486153C>T GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R) - GATA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - VUS g.128204996C>T g.128486153C>T GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R) - GATA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - likely benign g.128204996C>T - GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R) - GATA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481C>G r.(?) p.(Pro161Ala) Unknown - benign g.128204960G>C g.128486117G>C GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481... - GATA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481C>G r.(?) p.(Pro161Ala) Unknown - benign g.128204960G>C g.128486117G>C GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481... - GATA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481C>G r.(?) p.(Pro161Ala) Unknown - benign g.128204960G>C g.128486117G>C GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481... - GATA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481C>G r.(?) p.(Pro161Ala) Unknown - benign g.128204960G>C g.128486117G>C GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481... - GATA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481C>G r.(?) p.(Pro161Ala) Unknown - benign g.128204960G>C g.128486117G>C GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481... - GATA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.481C>G r.(?) p.(Pro161Ala) Unknown - likely benign g.128204960G>C - GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481... - GATA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - benign g.128204951C>T g.128486108C>T GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T) - GATA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - benign g.128204951C>T g.128486108C>T GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T) - GATA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - benign g.128204951C>T g.128486108C>T GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T) - GATA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.490G>A r.(?) p.(Ala164Thr) Parent #1 - VUS g.128204951C>T g.128486108C>T 490A/G - GATA2_000004 - PubMed: Connelly 2006 - - Unknown - - - - - DNA SEQ - - ADCAD - - - - - - - - - - - 1 LOVD
?/? 4 c.490G>A r.(?) p.(Ala164Thr) Unknown - VUS g.128204951C>T g.128486108C>T - - GATA2_000004 - - - rs2335052 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
-/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - benign g.128204951C>T g.128486108C>T GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T) - GATA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564G>C r.(?) p.(Thr188=) Unknown - benign g.128204877C>G g.128486034C>G GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=) - GATA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564G>C r.(?) p.(Thr188=) Unknown - benign g.128204877C>G g.128486034C>G GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=) - GATA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564G>C r.(?) p.(Thr188=) Unknown - benign g.128204877C>G g.128486034C>G GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=) - GATA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564G>C r.(?) p.(Thr188=) Unknown - likely benign g.128204877C>G g.128486034C>G GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=) - GATA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.579dup r.(?) p.(Ala194Serfs*8) Unknown - likely pathogenic (dominant) g.128204862dup g.128486019dup - - GATA2_000025 - PubMed: Ostergaard 2011 - - De novo - 1/300 - - - DNA SEQ - - Emberger syndrome - PubMed: Mansour 2010 - M - (United Kingdom (Great Britain)) European - - - - 1 LOVD
?/. - c.625G>A r.(?) p.(Asp209Asn) Unknown - VUS g.128204816C>T - GATA2(NM_032638.5):c.625G>A (p.D209N) - GATA2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707T>C r.(?) p.(Met236Thr) Unknown - likely benign g.128204734A>G - GATA2(NM_032638.4):c.707T>C (p.(Met236Thr)) - GATA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.710G>A r.(?) p.(Gly237Asp) Unknown - benign g.128204731C>T g.128485888C>T GATA2(NM_001145661.2):c.710G>A (p.G237D) - GATA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748C>G r.(?) p.(Pro250Ala) Parent #1 - likely benign g.128204693G>C g.128485850G>C - - GATA2_000060 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78245253 Germline - 13/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
?/. - c.758_775del r.(?) p.(Val253_His258del) Unknown - VUS g.128204667_128204684del - - - GATA2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.761C>T r.(?) p.(Pro254Leu) Parent #1 - pathogenic g.128204680G>A g.128485837G>A 751C>T - GATA2_000015 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0003 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+/? 4 c.778_779ins10 r.? p.(Asp259fs*) Parent #1 - pathogenic g.? - 778_779ins10 - GATA2_000013 not in 150 control chromosomes PubMed: Hsu 2011 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
-?/. - c.787G>A r.(?) p.(Gly263Arg) Unknown - likely benign g.128204654C>T - GATA2(NM_032638.4):c.787G>A (p.G263R) - GATA2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829A>G r.(?) p.(Ser277Gly) Unknown - likely benign g.128204612T>C g.128485769T>C GATA2(NM_001145661.2):c.829A>G (p.S277G) - GATA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.951_952ins11 r.? p.(Asn317fs*) Parent #1 - pathogenic g.? - 951_952ins11 - GATA2_000014 not in 150 control chromosomes PubMed: Hsu 2011 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+?/+? 5 c.1009C>T r.(?) p.(Arg337*) Unknown - likely pathogenic (dominant) g.128202711G>A g.128483868G>A - - GATA2_000020 - PubMed: Ostergaard 2011 - - Germline/De novo (untested) - 1/300 - - - DNA SEQ-NG-I - - Emberger syndrome - OMIM:var - F - (United Kingdom (Great Britain)) Chinese - - - - 1 LOVD
-/. - c.1018-19C>T r.(=) p.(=) Unknown - benign g.128200806G>A g.128481963G>A GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T - GATA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018-19C>T r.(=) p.(=) Unknown - benign g.128200806G>A g.128481963G>A GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T - GATA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018-19C>T r.(=) p.(=) Unknown - benign g.128200806G>A g.128481963G>A GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T - GATA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018-19C>T r.(=) p.(=) Unknown - benign g.128200806G>A g.128481963G>A GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T - GATA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.1018-3_1031del17 r.? p.(Ala341Argfs*38) Unknown - likely pathogenic (dominant) g.128200774_128200790del17 - - - GATA2_000022 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Ostergaard 2011 - - Germline/De novo (untested) - 1/300 - - - DNA SEQ - - Emberger syndrome - OMIM:var - F - (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/? 5i c.1018-1G>A r.spl? p.(Ser340_Asn381del) Parent #1 - pathogenic g.128200788C>T g.128481945C>T - - GATA2_000016 not in 150 control chromosomes PubMed: Hsu 2011 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+?/+? 6 c.1021_1024del r.(?) p.(Ala341Profs*45) Unknown - likely pathogenic (dominant) g.128200783_128200786del g.128481940_128481943del - - GATA2_000021 - PubMed: Ostergaard 2011 - - Germline/De novo (untested) - 1/300 - - - DNA SEQ - - Emberger syndrome - PubMed: Mansour 2010 - M - (United Kingdom (Great Britain)) European - - - - 1 LOVD
-?/. - c.1023C>T r.(?) p.(Ala341=) Unknown - likely benign g.128200782G>A g.128481939G>A GATA2(NM_001145661.1):c.1023C>T (p.A341=) - GATA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1032_1036dup r.(?) p.(Gly346Glufs*43) Unknown - likely pathogenic g.128200770_128200774dup g.128481927_128481931dup different transcript: NM_032638.4:c.1032_1036dup; p.Gly346Glufs - GATA2_000064 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing IMD21 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+/? 6 c.1061C>T r.(?) p.(Trp354Met) Parent #1 - pathogenic g.128200744G>A g.128481901G>A - - GATA2_000006 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+/? 6 c.1061C>T r.(?) p.(Thr354Met) Parent #1 - pathogenic g.128200744G>A g.128481901G>A - - GATA2_000006 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+/? 6 c.1061C>T r.(?) p.(Thr354Met) Parent #1 - pathogenic g.128200744G>A g.128481901G>A - - GATA2_000006 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+/. 6 c.1061C>T r.(?) p.(Thr354Met) Parent #1 ACMG pathogenic g.128200744G>A g.128481901G>A - - GATA2_000006 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat86,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - 1 Johan den Dunnen
?/. - c.1064C>A r.(?) p.(Thr355Lys) Unknown - VUS g.128200741G>T - GATA2(NM_032638.4):c.1064C>A (p.(Thr355Lys)) - GATA2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7a c.1078T>A r.(?) p.(Trp360Arg) Parent #1 ACMG likely pathogenic g.128200727A>T g.128481884A>T - - GATA2_000073 - PubMed: Stray-Pedersen 2017 - - Germline yes - - - - DNA SEQ-NG - - IMD Pat88,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - 1 Johan den Dunnen
+/. - c.1082G>A r.(?) p.(Arg361His) Unknown - pathogenic g.128200723C>T - - - GATA2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.1082G>T r.(?) p.(Arg361Leu) Unknown - likely pathogenic (dominant) g.128200723C>A g.128481880C>A c.1082G>C - GATA2_000024 - PubMed: Ostergaard 2011 - - De novo - 1/300 +/- - - DNA SEQ - - Emberger syndrome - OMIM:var - M - (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/? 6 c.1084_1095del r.(?) p.(Arg362_Asn365del) Parent #1 - pathogenic g.128200711_128200722del g.128481868_128481879del 1083_1094del12 - GATA2_000009 not in 150 control chromosomes PubMed: Hsu 2011, OMIM:var0005 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+/. - c.1085G>A r.(?) p.(Arg362Gln) Unknown - pathogenic g.128200720C>T - - - GATA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091C>A r.(?) p.(Ala364Asp) Unknown - VUS g.128200714G>T g.128481871G>T - - GATA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1099dup r.(?) p.(Asp367GlyfsTer17) Unknown - pathogenic g.128200709dup g.128481866dup GATA2(NM_001145661.1):c.1099dupG (p.D367Gfs*17) - GATA2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.1113C>G r.(?) p.(Asn371Lys) Parent #1 - pathogenic g.128200692G>C g.128481849G>C - - GATA2_000008 not in 150 control chromosomes PubMed: Hsu 2011 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
+?/+? 6 c.1117T>C r.(?) p.(Cys373Arg) Unknown - likely pathogenic (dominant) g.128200688A>G g.128481845A>G - - GATA2_000023 - PubMed: Ostergaard 2011 - - Germline - 1/300 + - - DNA SEQ - - Emberger syndrome - PubMed: Mansour 2010 - M - (United Kingdom (Great Britain)) European - - - - 1 Pia Ostergaard
+?/. - c.1124T>C r.(?) p.(Leu375Pro) Unknown - likely pathogenic g.128200681A>G g.128481838A>G GATA2(NM_001145661.1):c.1124T>C (p.L375P) - GATA2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1143+3G>C r.spl? p.? Unknown - likely benign g.128200659C>G g.128481816C>G GATA2(NM_001145661.1):c.1143+3G>C - GATA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7ai c.1143+5G>A r.[=,1143_1144ins[gugaa;1143+6_1143+64]] p.[=,Asn381fs] Parent #1 ACMG likely pathogenic g.128200657C>T g.128481814C>T - - GATA2_000072 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat84,1/84,4 PubMed: Stray-Pedersen 2017 2-generation family, affected twin sisters, unaffected heterozygous carrier parents F - Norway - 45y - - - 2 Johan den Dunnen
+/. - c.1143+5G>A r.spl? p.? Unknown - pathogenic g.128200657C>T - GATA2(NM_032638.4):c.1143+5G>A (p.?) - GATA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.1143+5G>A r.[1018_1143del,1143_1144ins[GtGAA;1143+6_1143+64],=] p.[Ser340_Asn381del,Asn383SerfsTer21,=] Unknown - likely pathogenic g.128200657C>T g.128481814C>T - - GATA2_000072 multiple effects on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-?/. - c.1143+19G>C r.(=) p.(=) Unknown - likely benign g.128200643C>G g.128481800C>G GATA2(NM_001145661.2):c.1143+19G>C - GATA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6i c.1143+203A>G r.(=) p.(=) Parent #1 - VUS g.128200459T>C g.128481616T>C - - GATA2_000001 - PubMed: Connelly 2006 - - Unknown - - - - - DNA SEQ - - ADCAD - - - - - - - - - - - 1 LOVD
?/? 6i c.1143+203A>G r.(=) p.(=) Unknown - VUS g.128200459T>C g.128481616T>C - - GATA2_000001 - - - rs2713604 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
+?/. - c.1149del r.(?) p.(Asn383Lysfs*4) Unknown - likely pathogenic g.128200156del - GATA2(NM_032638.4):c.1149delC (p.(Asn383fs)) - GATA2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168_1170del r.(?) p.(Lys390del) Unknown - VUS g.128200139_128200141del g.128481296_128481298del GATA2(NM_001145661.1):c.1168_1170delAAG (p.K390del) - GATA2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185T>C r.(?) p.(Thr395=) Unknown - likely benign g.128200120A>G g.128481277A>G GATA2(NM_032638.5):c.1185T>C (p.T395=) - GATA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.1186C>T r.(?) p.(Arg396Trp) Parent #1 - pathogenic g.128200119G>A g.128481276G>A - - GATA2_000011 not in 150 control chromosomes PubMed: Hsu 2011 - - Unknown - - - - - DNA SEQ - - IMD21 - - - - - - - - - - - 1 LOVD
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