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Items: 1 to 100 of 181

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA2
(S433R +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(S433R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GATA2
(H428fs +1 more)
Duplication
(frameshift variant)
Acute myeloid leukemia
+3 more
GConflicting classifications of pathogenicity
GATA2
(S429T +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GATA2
(F414fs +1 more)
Duplication
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(E415K +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(K392fs +1 more)
Duplication
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Deletion
(splice acceptor variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(R398Q +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+2 more
GPathogenic/Likely pathogenic
GATA2
(R398W +1 more)
Single nucleotide variant
(missense variant)
Leukemia, acute myeloid, susceptibility to
+5 more
GPathogenic
GATA2
(R382L +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+2 more
GLikely pathogenic
GATA2
(R396Q +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GPathogenic
GATA2
(R382W +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GPathogenic/Likely pathogenic
GATA2
(E377fs +1 more)
Microsatellite
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(K376E +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(M374T +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(M374V +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GConflicting classifications of pathogenicity
GATA2
(T387N +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+2 more
GConflicting classifications of pathogenicity
GATA2
(P371Q +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
Single nucleotide variant
(intron variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GConflicting classifications of pathogenicity
GATA2
Single nucleotide variant
(intron variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
Single nucleotide variant
(intron variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
Single nucleotide variant
(splice donor variant)
GATA2 deficiency with susceptibility to MDS/AML
+2 more
GPathogenic/Likely pathogenic
GATA2
(N367fs +1 more)
Deletion
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(K364fs +1 more)
Duplication
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(K364* +1 more)
Single nucleotide variant
(nonsense)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Deletion
(inframe_deletion)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(Y363D +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+2 more
GLikely pathogenic
GATA2
(Y362* +1 more)
Single nucleotide variant
(nonsense)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(L361fs +1 more)
Deletion
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(L361F +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(L361V +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(C359Y +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(C373R +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GLikely pathogenic
GATA2
(A358T +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+2 more
GConflicting classifications of pathogenicity
GATA2
(N357fs +1 more)
Deletion
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(N357K +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GPathogenic/Likely pathogenic
GATA2
(N371K +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GPathogenic/Likely pathogenic
GATA2
(C356W +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(P354fs +1 more)
Deletion
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(D353fs +1 more)
Duplication
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(D353fs +1 more)
Deletion
(frameshift variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Deletion
(inframe_deletion)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
Deletion
(inframe_deletion)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely pathogenic
GATA2
(R348P +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(R362* +1 more)
Single nucleotide variant
(nonsense)
Monocytopenia with susceptibility to infections
+5 more
GPathogenic/Likely pathogenic
GATA2
(R347H +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(R361L +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
GATA2
(R361C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
GATA2
(R361G +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GLikely pathogenic
GATA2
(W346L +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(W346R +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(L345S +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(T344del +1 more)
Microsatellite
(inframe_deletion)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(T344N +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(T343I +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GConflicting classifications of pathogenicity
GATA2
(T343A +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GConflicting classifications of pathogenicity
GATA2
(T344del +1 more)
Deletion
(inframe_deletion)
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
GATA2
(T340R +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(T354M +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GPathogenic
GATA2
(T340P +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(C352F)
Single nucleotide variant
(missense variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(C352fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(C352G)
Single nucleotide variant
(missense variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(C352R)
Single nucleotide variant
(missense variant +1 more)
Leukemia, acute myeloid, susceptibility to
+2 more
GLikely pathogenic
GATA2
(N351S)
Single nucleotide variant
(missense variant +1 more)
Deafness-lymphedema-leukemia syndrome
+2 more
GConflicting classifications of pathogenicity
GATA2
(R344fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(C349F)
Single nucleotide variant
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(C349G)
Single nucleotide variant
(missense variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(C349R)
Single nucleotide variant
(missense variant +1 more)
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic/Likely pathogenic
GATA2
(C348fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(T347fs)
Duplication
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(T347fs)
Duplication
(frameshift variant +1 more)
Deafness-lymphedema-leukemia syndrome
+2 more
GPathogenic/Likely pathogenic
GATA2
Deletion
(splice acceptor variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(G346fs)
Insertion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(G346S)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
GATA2
Microsatellite
(inframe_insertion +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(A341fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Deletion
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(R344fs)
Duplication
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Deletion
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(R344fs)
Duplication
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Deletion
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(R343fs)
Insertion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(A342del)
Microsatellite
(inframe_deletion +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(A342fs)
Duplication
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(A341fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(A342T)
Single nucleotide variant
(missense variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+3 more
GUncertain significance
GATA2
(A342fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(A341P)
Single nucleotide variant
(missense variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GUncertain significance
GATA2
(A341fs)
Deletion
(frameshift variant +1 more)
Deafness-lymphedema-leukemia syndrome
+2 more
GPathogenic/Likely pathogenic
GATA2
(A341fs)
Insertion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
(S340fs)
Deletion
(frameshift variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Single nucleotide variant
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
Single nucleotide variant
(intron variant +1 more)
Deafness-lymphedema-leukemia syndrome
+2 more
GPathogenic/Likely pathogenic
GATA2
Single nucleotide variant
(intron variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GPathogenic
GATA2
Single nucleotide variant
(splice acceptor variant +1 more)
Deafness-lymphedema-leukemia syndrome
+2 more
GPathogenic
GATA2
Duplication
(intron variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GConflicting classifications of pathogenicity
GATA2
Single nucleotide variant
(intron variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GConflicting classifications of pathogenicity
GATA2
Single nucleotide variant
(intron variant)
GATA2 deficiency with susceptibility to MDS/AML
+3 more
GPathogenic/Likely pathogenic
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