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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP2S1, ARHGAP35
+290 more
Copy number gain
See cases
GPathogenic
ZBTB45, ZFP28
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064933, LOC130064934
+1093 more
Copy number gain
See cases
GPathogenic
BAX
(G3W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BAX
(S4P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BAX
(S15G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BAX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BAX
(E41fs +1 more)
Duplication
(frameshift variant +3 more)
Inborn genetic diseases
GUncertain significance
BAX
(M1I +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
BAX
(G2fs +1 more)
Deletion
(intron variant +3 more)
T-cell acute lymphoblastic leukemia
GPathogenic
BAX
(E4fs +1 more)
Deletion
(frameshift variant +3 more)
Carcinoma of colon
GPathogenic
BAX
(T19N +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BAX
(K21R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
BAX
(I29V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BAX
(G67R +1 more)
Single nucleotide variant
(intron variant +2 more)
T-cell acute lymphoblastic leukemia
GPathogenic
BAX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
BAX
(A106T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BAX
(A184T)
Single nucleotide variant
(missense variant +4 more)
not provided
GLikely benign
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
FLT3LG, FPR1
+308 more
Copy number gain
not provided
GPathogenic
FUZ, GARIN5A
+228 more
Copy number gain
not provided
Gnot provided
CLDND2, IGSF23
+293 more
Copy number gain
not provided
GPathogenic
BAX, BCAT2
+58 more
Copy number gain
not provided
GUncertain significance
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
LILRA4, LILRA5
+1364 more
Copy number gain
See cases
GPathogenic
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