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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA2
(M461L +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+2 more
GUncertain significance
GATA2
(H455Y +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
(G468S +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+3 more
GUncertain significance
GATA2
(P456L +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+5 more
GUncertain significance
GATA2
(G450R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GATA2
(P431A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATA2
(P444L +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(S429T +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GATA2
(S425L +1 more)
Single nucleotide variant
(missense variant)
GATA2-related condition
+6 more
GUncertain significance
GATA2
(E409K +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+2 more
GUncertain significance
GATA2
(A411V +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+5 more
GUncertain significance
GATA2
(K391N +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(S387C +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(N383S +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(A342T)
Single nucleotide variant
(missense variant +1 more)
GATA2 deficiency with susceptibility to MDS/AML
+3 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant +1 more)
GATA2-related condition
+5 more
GConflicting classifications of pathogenicity
GATA2
(K324fs)
Deletion
(frameshift variant)
Monocytopenia with susceptibility to infections
+1 more
GPathogenic
GATA2
(A286T)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(K281N)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(S277G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
GATA2
(P250S)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(M236V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GATA2
(P228T)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+2 more
GUncertain significance
GATA2
(G200A)
Single nucleotide variant
(missense variant)
GATA2-related condition
+3 more
GUncertain significance
GATA2
(G200R)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(G199A)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(A198V)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GUncertain significance
GATA2
(A198S)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+2 more
GUncertain significance
GATA2
(A191T)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(P185S)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(S168A)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+2 more
GUncertain significance
GATA2
(S148G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GATA2
(P142S)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+2 more
GUncertain significance
GATA2
(L138P)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+3 more
GUncertain significance
GATA2
(L95V)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+2 more
GUncertain significance
GATA2
(P87S)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(T80A)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+2 more
GUncertain significance
GATA2
(V70F)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GConflicting classifications of pathogenicity
GATA2
(A61V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GATA2
(Y59C)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(L52V)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(L29V)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+2 more
GUncertain significance
GATA2
(P22S)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+2 more
GUncertain significance
GATA2
(W10C)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+5 more
GUncertain significance
GATA2
(V3L)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
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