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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBL, LOC130006895
Microsatellite
(inframe_insertion)
Noonan syndrome and Noonan-related syndrome
+8 more
GBenign/Likely benign
CBL
Single nucleotide variant
(synonymous variant)
CBL-related condition
+2 more
GConflicting classifications of pathogenicity
CBL
(P551S)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(L620F)
Single nucleotide variant
(missense variant)
CBL-related disorder
+6 more
GBenign
CBL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
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