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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBL
(T91A)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
(I130V)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
CBL
(A187V)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(L620F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GBenign
CBL
(P684S)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+3 more
GUncertain significance
CBL
(E693K)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
(R709W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CBL
(P742S)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
CBL
(A757T)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+6 more
GBenign/Likely benign
CBL
(S798F)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
(S844R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CBL
(V904I)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+6 more
GBenign/Likely benign
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