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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRAS
Single nucleotide variant
(intron variant)
Familial cancer of breast
+11 more
GUncertain significance
KRAS
(R68W)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GLikely pathogenic
KRAS
(M111V)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
+12 more
GUncertain significance
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
+13 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+12 more
GUncertain significance
KRAS
(K147M)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GLikely pathogenic
KRAS
(S122C)
Single nucleotide variant
(missense variant)
RASopathy
+12 more
GUncertain significance
KRAS
Insertion
(inframe_insertion)
Noonan syndrome 3
GPathogenic
KRAS
(A18V)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GPathogenic
KRAS
(G77C)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GLikely pathogenic
KRAS
(N26H)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GUncertain significance
KRAS
(C118R)
Single nucleotide variant
(missense variant)
RASopathy
+12 more
GUncertain significance
KRAS
(A130I)
Indel
(missense variant)
RASopathy
+12 more
GUncertain significance
SHOC2
(L447F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SHOC2
(K341E +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 3
GUncertain significance
KRAS
(R68del)
Deletion
(inframe_deletion)
Noonan syndrome 3
GLikely pathogenic
CLTC
(A639fs +1 more)
Indel
(frameshift variant)
Noonan syndrome 3
GPathogenic
KRAS
(I163V)
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
+12 more
GUncertain significance
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
KRAS
(E153V)
Single nucleotide variant
(missense variant +1 more)
KRAS-related disorder
+1 more
GPathogenic/Likely pathogenic
KRAS
(E63D)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+1 more
GLikely pathogenic
KRAS
Single nucleotide variant
(intron variant)
Noonan syndrome 3
+12 more
GConflicting classifications of pathogenicity
KRAS
Deletion
(3 prime UTR variant +1 more)
RASopathy
+14 more
GConflicting classifications of pathogenicity
KRAS
(R164*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 3
+1 more
GConflicting classifications of pathogenicity
KRAS
(S136N)
Single nucleotide variant
(missense variant)
RASopathy
+14 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(intron variant)
Toriello-Lacassie-Droste syndrome
+12 more
GBenign/Likely benign
RAF1
(V263D +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 3
+5 more
GPathogenic/Likely pathogenic
KRAS
(S65I)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenicFDA Recognized
database
KRAS
(K147R)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GPathogenic
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+13 more
GBenign/Likely benign
HRAS, LRRC56
(Q61H)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 3
GLikely pathogenic
KRAS
(A130V)
Single nucleotide variant
(missense variant)
not specified
+15 more
GUncertain significance
KRAS
(E63del)
Microsatellite
(inframe_deletion)
RASopathy
+12 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(intron variant)
not specified
+12 more
GLikely benign
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+12 more
GLikely benign
PTPN11
(E69V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+4 more
GPathogenic/Likely pathogenic
KRAS
(F156I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 3
+3 more
GPathogenic
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
KRAS
(G12A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+13 more
GPathogenic/Likely pathogenic
OOncogenic
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+4 more
GPathogenic
SOS1
(I733F +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+4 more
GPathogenic/Likely pathogenic
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
See cases
+8 more
GPathogenic
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+8 more
GPathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
PTPN11
(E110K +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
PTPN11
(F71L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+3 more
GPathogenic/Likely pathogenic
PTPN11
(D61H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PTPN11
(N58K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+8 more
GPathogenic
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+3 more
GBenign
KRAS
(D119N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GLikely pathogenic
KRAS
(P34L)
Single nucleotide variant
(missense variant)
Noonan syndrome
KRAS
(Q22R)
Single nucleotide variant
(missense variant)
RASopathy
PTPN11
(Q510P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
PTPN11
(Q79R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+10 more
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+11 more
GPathogenic
OLikely oncogenic
HRAS, LRRC56
(Q61K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
KRAS
(G60S)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+3 more
GPathogenic
KRAS
(K5E)
Single nucleotide variant
(missense variant)
KRAS-related disorder
+4 more
GPathogenic/Likely pathogenic
KRAS
(V152G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 3
GPathogenic
KRAS
(P34R)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+7 more
GPathogenic/Likely pathogenic
KRAS
(V14I)
Single nucleotide variant
(missense variant)
RASopathy
KRAS
(T58I)
Single nucleotide variant
(missense variant)
Noonan syndrome
KRAS
(D153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
KRAS
(G60R)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
KRAS
(G12D)
Single nucleotide variant
(missense variant)
RASopathy
+17 more
GPathogenic/Likely pathogenic
OOncogenic
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