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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBL, LOC130006895
(H46Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBL
Deletion
(splice donor variant)
not provided
GUncertain significance
CBL
(Q367P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
CBL
(Y371H)
Single nucleotide variant
(missense variant)
See cases
+4 more
GPathogenic
CBL
(R420Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
+3 more
GConflicting classifications of pathogenicity
CBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CBL
(L493F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CBL
(R585C)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CBL
(L686V)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(R709W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CBL
(R718Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
CBL
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CBL
(R788Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CBL
(D806V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CBL
(Q872E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBL
(M887V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBL
(K889R)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
CBL
(E894*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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