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Links from MedGen

Items: 1 to 100 of 347

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(Y262N +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+3 more
GLikely pathogenic
PTPN11
(Y395C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
RASA2
(S239F)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
BRAF
(F159L +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GPathogenic
PTPN11
(F70L +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+2 more
GLikely pathogenic
PTPN11
(S364R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GUncertain significance
LZTR1
(N230K)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
PTPN11
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
GUncertain significance
PTPN11
(V167A +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+1 more
GUncertain significance
PTPN11
(K401T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GUncertain significance
PTPN11
(R497Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
PTPN11
(S498P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
BRAF
Microsatellite
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GBenign/Likely benign
MAP2K1
Single nucleotide variant
(intron variant)
Noonan syndrome 1
+3 more
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GLikely benign
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
+4 more
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+7 more
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+7 more
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
+7 more
GLikely benign
PTPN11
Single nucleotide variant
(synonymous variant)
RASopathy
+4 more
GLikely benign
BRAF
Deletion
(intron variant)
RASopathy
+7 more
GLikely benign
PTPN11
(E97K +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GUncertain significance
PTPN11
(Y62N +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+1 more
GLikely pathogenic
BRAF
(A42S)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+7 more
GUncertain significance
PTPN11
(Q504E +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
BRAF
(G9A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
PTPN11
(P561L +2 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+4 more
GUncertain significance
PTPN11
(D188G +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+4 more
GUncertain significance
PTPN11
(Q257R +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+4 more
GUncertain significance
BRAF
(I662V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+7 more
GUncertain significance
PTPN11
(R231* +1 more)
Single nucleotide variant
(nonsense)
Noonan syndrome 1
+4 more
GPathogenic/Likely pathogenic
PTPN11
(L43V)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+4 more
GUncertain significance
PTPN11
(E109G +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+5 more
GConflicting classifications of pathogenicity
BRAF
Insertion
(intron variant)
Cardiofaciocutaneous syndrome 1
+8 more
GBenign/Likely benign
BRAF, LOC126860202
(R266Q +4 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+8 more
GUncertain significance
PTPN11
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
BRAF
(S35N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
Lung cancer
+8 more
GLikely benign
PTPN11
(R288G +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+5 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
+8 more
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
+7 more
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
NRAS
(T58I)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(A38P)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GUncertain significance
PTPN11
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
+7 more
GLikely benign
PTPN11
Single nucleotide variant
(intron variant)
Noonan syndrome 1
GUncertain significance
PTPN11
(G59D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PTPN11
(E257K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
PTPN11
(I469T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
PTPN11
(I220M +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+2 more
GPathogenic/Likely pathogenic
PTPN11
(V427L +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GConflicting classifications of pathogenicity
LZTR1
(R284H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PTPN11
Single nucleotide variant
(synonymous variant)
RASopathy
+4 more
GConflicting classifications of pathogenicity
BRAF
(S342P +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GBenign/Likely benign
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11, RPL6
Single nucleotide variant
(5 prime UTR variant)
Noonan syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GBenign/Likely benign
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(5 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(5 prime UTR variant)
Noonan syndrome 1
+2 more
GUncertain significance
PTPN11, RPL6
Single nucleotide variant
(5 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GBenign/Likely benign
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Metachondromatosis
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(5 prime UTR variant)
LEOPARD syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(5 prime UTR variant)
Noonan syndrome 1
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
Metachondromatosis
+2 more
GUncertain significance
PTPN11
(V432L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PTPN11
(Q509H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+3 more
GPathogenic
PTPN11
(P423L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
GJB2
(F69L)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GPathogenic
PTPN11
(Q257del +1 more)
Microsatellite
(inframe_deletion)
PTPN11-related condition
+6 more
GConflicting classifications of pathogenicity
SOS1
(R552del +1 more)
Deletion
(inframe_deletion)
Noonan syndrome 1
GLikely pathogenic
BRAF
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
+9 more
GLikely benign
PTPN11
Single nucleotide variant
(synonymous variant)
Juvenile myelomonocytic leukemia
+7 more
GLikely benign
RIT1
(G31R +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
+2 more
GPathogenic/Likely pathogenic
RIT1
(F46S +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GPathogenic
BRAF
(P402H +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+10 more
GUncertain significance
PTPN11
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
+4 more
GConflicting classifications of pathogenicity
LZTR1
(S244P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SOS1
(F623I +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GLikely pathogenic
PTPN11
(V382I +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
PTPN11
(P454L +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MAP2K1
(P321S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
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