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Links from MedGen

Items: 1 to 100 of 5781

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(I509M +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
KRAS
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
BRAF
(I613V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(H744Y +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
MAP2K2
(T364A)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL, LOC130006895
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
SOS1
(G321R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
(G30S)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RAF1
(S163R +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
LOC130063193, MAP2K2
(E20K)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
SOS1
(H512Y +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +2 more)
RASopathy
GLikely benign
SOS1
(I832T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K2
(S306I)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
(S1107C +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
CBL
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
CBL
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SHOC2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SOS1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
RAF1
(E344K +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
RASopathy
GUncertain significance
BRAF, LOC126860202
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
SHOC2
Insertion
(intron variant)
RASopathy
GLikely benign
CBL
(A848S)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
SHOC2
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
PTPN11
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
SOS1
(S516R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SHOC2
(L107F)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
(Q360R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SHOC2
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
CBL
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
CBL
(A310G)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
Microsatellite
(intron variant)
RASopathy
GLikely benign
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
BRAF
(P385S +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RAF1
(V140A +1 more)
Single nucleotide variant
(intron variant +2 more)
RASopathy
GLikely benign
CBL
(N761S)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RAF1
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
BRAF
(Q41H +2 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
CBL
(M469T)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
RAF1
(A3V)
Single nucleotide variant
(synonymous variant +2 more)
RASopathy
GUncertain significance
SHOC2
(F34L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Deletion
(intron variant)
RASopathy
GBenign
SOS1
(M871T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
PTPN11
(I467V +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
KRAS
(T183R)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
RAF1
(I7M +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
LOC130063193, MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SOS1
Deletion
(inframe_deletion)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
BRAF, LOC126860202
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
RAF1
(L510P +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SOS1
(G328S +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RAF1
(L460M +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
CBL
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K2
(N33H)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
MAP2K2
Microsatellite
(intron variant)
RASopathy
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K2
(Q247*)
Single nucleotide variant
(nonsense)
RASopathy
GUncertain significance
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SHOC2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1, SNAPC5
(F323L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
BRAF, LOC126860202
(P255L +4 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SHOC2
(R377K +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
SOS1
(L181S +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
SOS1
(R1061K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SHOC2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
SOS1
(P1084R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SHOC2
(L276F)
Single nucleotide variant
(missense variant +2 more)
RASopathy
GUncertain significance
RAF1
(P30H)
Single nucleotide variant
(missense variant +2 more)
RASopathy
GUncertain significance
PTPN11
Microsatellite
(intron variant)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
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