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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(V600G +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+3 more
GPathogenic
STier I - Strong
BRAF
(L597V +7 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
BRAF
(G596V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(G534R +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
BRAF
(W531C +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
BRAF
(L485F +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(T470del +7 more)
Deletion
(inframe_deletion)
Cardio-facio-cutaneous syndrome
Gnot provided
BRAF
(S467A +7 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
(T241R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+9 more
GPathogenic/Likely pathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
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