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Items: 1 to 100 of 1526

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937446, LOC129937447
+1343 more
Copy number gain
See cases
GPathogenic
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
ABTB1, ADCY5
+570 more
Copy number loss
See cases
GPathogenic
LOC126806816, LOC126806817
+484 more
Copy number gain
See cases
GUncertain significance
ABTB1, ACAD9
+124 more
Copy number loss
See cases
GPathogenic
ABTB1, ACAD11
+248 more
Copy number loss
See cases
GLikely pathogenic
GATA2
Single nucleotide variant
Deafness-lymphedema-leukemia syndrome
+1 more
GBenign
GATA2
Deletion
Deafness-lymphedema-leukemia syndrome
GPathogenic
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GLikely benign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Microsatellite
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GBenign/Likely benign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GBenign
GATA2
Single nucleotide variant
(3 prime UTR variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(stop lost)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
(M465T +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Monocytopenia with susceptibility to infections
+1 more
GLikely benign
GATA2
(A478V +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GBenign/Likely benign
GATA2
(T477I +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(T463A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Monocytopenia with susceptibility to infections
+1 more
GLikely benign
GATA2
(V462A +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(V476M +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
(M475V +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(M461L +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+2 more
GUncertain significance
GATA2
(S460T +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
(S473P +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Monocytopenia with susceptibility to infections
+1 more
GLikely benign
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+5 more
GConflicting classifications of pathogenicity
GATA2
(P458Q +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(P458L +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Monocytopenia with susceptibility to infections
+1 more
GLikely benign
GATA2
(H471N +1 more)
Indel
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(H457Y +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(P456L +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
(P456R +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(H469Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
GATA2
(H455Y +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(G468D +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(G454C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GATA2
(G468S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GATA2
(F453del +1 more)
Deletion
(inframe_deletion)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
GATA2
Single nucleotide variant
(synonymous variant)
Monocytopenia with susceptibility to infections
+1 more
GLikely benign
GATA2
(S452fs +1 more)
Microsatellite
(frameshift variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(L451P +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
(L465F +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
(S464I +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(S462Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(P447S +1 more)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(I445T +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(I445N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
GATA2
(P458L +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
(P458S +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
GATA2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
GATA2
Single nucleotide variant
(synonymous variant)
Deafness-lymphedema-leukemia syndrome
+1 more
GLikely benign
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