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Links from MedGen

Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAF1
(T527R +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
(Q11K +1 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 2
+2 more
GUncertain significance
LOC129936179, LOC129936180
+10 more
Duplication
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(intron variant +1 more)
Noonan syndrome 5
+2 more
GConflicting classifications of pathogenicity
RAF1
(V21M)
Single nucleotide variant
(missense variant +2 more)
RASopathy
+1 more
GLikely benign
RAF1
(R30H +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
LEOPARD syndrome 2
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
MKRN2, RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
(K370T +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
MKRN2, RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +2 more)
Noonan syndrome 5
+2 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+2 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
(G407D +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+3 more
GUncertain significance
RAF1
(T177R +3 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 2
GLikely pathogenic
RAF1
(I11F)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome 5
+5 more
GUncertain significance
RAF1
(K590N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(synonymous variant +2 more)
Noonan syndrome 5
+3 more
GConflicting classifications of pathogenicity
RAF1
(V263D +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+5 more
GPathogenic/Likely pathogenic
RAF1
(V312M +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+5 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+2 more
GConflicting classifications of pathogenicity
RAF1
(A42T)
Single nucleotide variant
(missense variant +2 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
RAF1
(I201V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
RAF1
(P623S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
RAF1
(N161S +1 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 2
+5 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +2 more)
RASopathy
+5 more
GConflicting classifications of pathogenicity
RAF1
(A42V)
Single nucleotide variant
(missense variant +2 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+2 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
(G169R +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+4 more
GPathogenic/Likely pathogenic
RAF1
(I154M +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+4 more
GConflicting classifications of pathogenicity
RAF1
(F146L +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+5 more
GUncertain significance
RAF1
(S605F +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+6 more
GUncertain significance
RAF1
(M76V)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
RAF1
(Y574C +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+8 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
LEOPARD syndrome 2
+2 more
GUncertain significance
RAF1
(S259Y +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GPathogenic
RAF1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+7 more
GLikely benign
MKRN2, RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
(R398L +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
(G361A +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GPathogenic
RAF1
(P308L +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(P261A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GPathogenic/Likely pathogenic
RAF1
(R41Q)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome 5
+8 more
GConflicting classifications of pathogenicity
RAF1
(R40H)
Single nucleotide variant
(missense variant +2 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GBenign
RAF1
Microsatellite
RASopathy
GBenign
RAF1
(L613V +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
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