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Links from MedGen

Items: 1 to 100 of 383

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBL
(K389R)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(S252F)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
GLikely benign
CBL
(D712V)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(M161T)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
Indel
(splice acceptor variant)
CBL-related disorder
GLikely pathogenic
CBL, FRA11B
+1 more
Insertion
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
GLikely benign
CBL
(T811del)
Microsatellite
(inframe_deletion)
RASopathy
+1 more
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
CBL-related disorder
GUncertain significance
CBL
(P828A)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(S376P)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
+2 more
GLikely benign
CBL
Single nucleotide variant
(intron variant)
CBL-related disorder
GUncertain significance
CBL
(I664fs)
Deletion
(frameshift variant)
CBL-related disorder
GUncertain significance
CBL
(P630S)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(R116G)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(P662S)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(I885T)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+1 more
GUncertain significance
CBL
(P170L)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(L502F)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(L516P)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(R294W)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(Y371D)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
CBL
(G611R)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
RASopathy
+2 more
GLikely benign
CBL
(S216G)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CBL
Single nucleotide variant
(splice donor variant)
CBL-related disorder
GLikely pathogenic
CBL
(Q379K)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(P707R)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(R593W)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GBenign/Likely benign
CBL
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
+2 more
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
+2 more
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
+2 more
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
CBL-related disorder
+1 more
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GLikely benign
CBL
(P582T)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(G801C)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
CBL
Deletion
(splice acceptor variant)
RASopathy
+2 more
GUncertain significance
CBL
(R191T)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GUncertain significance
CBL
(R343*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GUncertain significance
CBL
(P428S)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
CBL
(R343Q)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
CBL
(R540*)
Single nucleotide variant
(nonsense)
CBL-related disorder
+2 more
GUncertain significance
CBL
(P582L)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
CBL
(M400T)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(F485L)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
CBL
(E696K)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+3 more
GConflicting classifications of pathogenicity
CBL
(H398R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CBL
(E834D)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CBL
(P433Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CBL
(G415S)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
CBL
(D388G)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+3 more
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
CBL-related disorder
GUncertain significance
CBL
(Q561*)
Single nucleotide variant
(nonsense)
CBL-related disorder
GUncertain significance
CBL
(S237L)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(R96C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
CBL
(C416S)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
CBL
(R540Q)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
CBL
(M222L)
Single nucleotide variant
(missense variant)
CBL-related disorder
+3 more
GUncertain significance
CBL
(C840Y)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
CBL
Inversion
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(T227S)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(L154P)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(P170S)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
(E815A)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CBL
(R550W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
(F800C)
Single nucleotide variant
(missense variant)
CBL-related disorder
+1 more
GUncertain significance
CBL
(H398P)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
CBL
Single nucleotide variant
(3 prime UTR variant)
CBL-related disorder
GUncertain significance
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