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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(G596V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(E501G +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+13 more
GPathogenic/Likely pathogenic
BRAF
(L294F +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
(C230fs +4 more)
Deletion
(frameshift variant)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
(R252P +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
(M23V)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
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