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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA2
(G450R +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+4 more
GUncertain significance
GATA2
(S429T +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+6 more
GConflicting classifications of pathogenicity
GATA2
(A411V +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+5 more
GUncertain significance
GATA2
(S277G)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+6 more
GUncertain significance
GATA2
(G149R)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+6 more
GConflicting classifications of pathogenicity
GATA2
(V70F)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GConflicting classifications of pathogenicity
GATA2
(A61V)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+4 more
GUncertain significance
TET2, TET2-AS1
(K423R)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
GUncertain significance
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
IDH2
(R140Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
OLikely oncogenic
TP53
(R116L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(R248W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
ASXL1
(R693* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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