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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
BRAF
Duplication
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GConflicting classifications of pathogenicity
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(intron variant)
Noonan syndrome 7
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
(K601Q +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+3 more
GPathogenic
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+3 more
GPathogenic
STier I - Strong
BRAF
(G596V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(C532Y +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
BRAF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BRAF
(E501K +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BRAF
(G469E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
BRAF
(P403A +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BRAF
(P44L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BRAF
(A38V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BRAF
Microsatellite
(inframe_insertion)
BRAF-related condition
+4 more
GConflicting classifications of pathogenicity
BRAF
(E26D)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GBenign/Likely benign
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