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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBL
(M269V)
Single nucleotide variant
(missense variant)
CBL-related disorder
+2 more
GUncertain significance
CBL
(Y371H)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+4 more
GPathogenic
CBL
(G397E)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
CBL
(G415S)
Single nucleotide variant
(missense variant)
Stroke disorder
+3 more
GUncertain significance
CBL
(P453S)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
CBL
(L467P)
Single nucleotide variant
(missense variant)
Stroke disorder
+2 more
GUncertain significance
CBL
(K685E)
Single nucleotide variant
(missense variant)
See cases
+2 more
GUncertain significance
CBL
(S799del)
Microsatellite
(inframe_deletion)
not specified
+4 more
GUncertain significance
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