U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRAS
(K147M)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GLikely pathogenic
KRAS
Insertion
(inframe_insertion)
Noonan syndrome 3
GPathogenic
KRAS
(A18V)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GPathogenic
KRAS
(G77C)
Single nucleotide variant
Noonan syndrome 3
GLikely pathogenic
KRAS
(N26H)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
GUncertain significance
KRAS
(A130I)
Indel
(missense variant)
Cerebral arteriovenous malformation
+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
Single nucleotide variant
(intron variant)
Noonan syndrome 3
+1 more
GConflicting classifications of pathogenicity
KRAS
(E153V)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 3
GLikely pathogenic
KRAS
Single nucleotide variant
(intron variant)
Acute myeloid leukemia
+12 more
GConflicting classifications of pathogenicity
KRAS
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome
+13 more
GUncertain significance
KRAS
(R164*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 3
GLikely benign
KRAS
Single nucleotide variant
(intron variant)
not provided
+12 more
GBenign/Likely benign
RAF1
(V263D +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+5 more
GPathogenic/Likely pathogenic
KRAS
(S65I)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
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 provided
+15 more
GUncertain significance
KRAS
Single nucleotide variant
(intron variant)
Familial cancer of breast
+12 more
GLikely benign
KRAS
Single nucleotide variant
(intron variant)
Familial cancer of breast
+12 more
GLikely benign
PTPN11
(E69V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+1 more
GLikely pathogenic
KRAS
(F156I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
+3 more
GPathogenic
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+4 more
GPathogenic
SOS1
(I733F +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+4 more
GPathogenic/Likely pathogenic
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+8 more
GPathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(E110K +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GPathogenic/Likely pathogenic
PTPN11
(F71L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+3 more
GPathogenic/Likely pathogenic
PTPN11
(D61N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GPathogenic
PTPN11
(D61H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
PTPN11
(N58K +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
KRAS
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
KRAS
(D119N)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 4
+5 more
GLikely pathogenic
KRAS
(P34L)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
KRAS
(Q22R)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q510P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(Q79R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+10 more
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+9 more
GPathogenic
PTPN11
(A72G +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+9 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(Q61K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
KRAS
(G60S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
KRAS
(K5E)
Single nucleotide variant
(missense variant)
not provided
+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)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
KRAS
(V14I)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
KRAS
(T58I)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
KRAS
(D153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
GPathogenic
KRAS
(G60R)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination