U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(G30D)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
(K61N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRAF
Duplication
(intron variant)
Cardio-facio-cutaneous syndrome
+3 more
GConflicting classifications of pathogenicity
BRAF
Indel
(intron variant)
Cardio-facio-cutaneous syndrome
+2 more
GUncertain significance
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+2 more
GUncertain significance
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+2 more
GUncertain significance
RAF1
Microsatellite
(3 prime UTR variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
RAF1
Microsatellite
(3 prime UTR variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
PTPN11
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+2 more
GUncertain significance
PTPN11
Microsatellite
(3 prime UTR variant)
Noonan syndrome
+2 more
GUncertain significance
PTPN11
Microsatellite
(3 prime UTR variant)
Noonan syndrome
+2 more
GUncertain significance
PTPN11
Microsatellite
(3 prime UTR variant)
Metachondromatosis
+2 more
GLikely benign
PTPN11
Microsatellite
(3 prime UTR variant)
Metachondromatosis
+3 more
GConflicting classifications of pathogenicity
PTPN11
Deletion
(3 prime UTR variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GLikely benign
PTPN11
Deletion
(3 prime UTR variant)
Noonan syndrome
+2 more
GUncertain significance
PTPN11
Deletion
(3 prime UTR variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RAF1
(D381N +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
RAF1
Single nucleotide variant
not specified
+3 more
GBenign/Likely benign
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GBenign/Likely benign
BRAF
Duplication
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GConflicting classifications of pathogenicity
RAF1
Duplication
(intron variant)
not provided
+4 more
GBenign/Likely benign
MAP2K2
(R231L)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GUncertain significance
RAF1
Microsatellite
RASopathy
GBenign
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
PTPN11
(Q506P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic
PTPN11
(R498L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+11 more
GPathogenic
PTPN11
(R498W +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+10 more
GPathogenic
PTPN11
(T468P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
+4 more
GPathogenic
PTPN11
(A461S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+11 more
GPathogenic
PTPN11
(Q256R +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
PTPN11
(A72P +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
RAF1
(T491I +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GPathogenic
RAF1
(D486N +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome with multiple lentigines
Gnot provided
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
PTPN11
(Q510P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(G464A +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
PTPN11
(A461T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
+5 more
GConflicting classifications of pathogenicity
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
+12 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination