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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAF1
(S624C +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GConflicting classifications of pathogenicity
RAF1
(N262K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
RAF1
(S259Y +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GPathogenic
RAF1
(S259C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
RAF1
(S259T +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GPathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Noonan syndrome
GPathogenic
RAF1
(S119F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RAF1
(N140S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
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