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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(D565E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+2 more
GPathogenic/Likely pathogenic
BRAF
(L525P +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+1 more
GPathogenic/Likely pathogenic
BRAF
(E501G +7 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GPathogenic/Likely pathogenic
BRAF
(E501K +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BRAF
(K499N +7 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
BRAF
(K499E +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(G464E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
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