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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(K601I +7 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
BRAF
(T599R +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(N581D +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(H574Q +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
BRAF
(G534R +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
BRAF
(E501V +7 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
BRAF
(E501G +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+13 more
GPathogenic/Likely pathogenic
BRAF
(K499E +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
+3 more
GPathogenic/Likely pathogenic
BRAF
(A481E +7 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+2 more
GPathogenic/Likely pathogenic
BRAF
(G464A +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
(G464V +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic/Likely pathogenic
BRAF
(F247L +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
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