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Links from MedGen

Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(D126N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP2K1
(Y125C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
Gnot provided
MAP2K2
(D271N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP2K2
Deletion
(inframe_deletion)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
MAP2K1
(Q46L)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
BRAF
(K483T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
(T470P +1 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
BRAF
Deletion
(inframe_deletion)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
MAP2K2
(N126D)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GPathogenic/Likely pathogenic
BRAF
(D594V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(D594E +7 more)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
BRAF
(G464R +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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
MAP2K1, SNAPC5
Deletion
(3 prime UTR variant +1 more)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
MAP2K1, SNAPC5
Duplication
(3 prime UTR variant +1 more)
Cardio-facio-cutaneous syndrome
+2 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Deletion
(3 prime UTR variant +1 more)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
LOC130057340, MAP2K1
Microsatellite
(5 prime UTR variant)
Cardio-facio-cutaneous syndrome
+2 more
GLikely benign
KRAS, LOC130007561
Microsatellite
(5 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
+1 more
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+2 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
+1 more
GUncertain significance
KRAS
Insertion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Noonan syndrome
+1 more
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+2 more
GConflicting classifications of pathogenicity
KRAS
(Y71D)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely pathogenic
MAP2K1
(K57N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
BRAF
(T470del +7 more)
Deletion
(inframe_deletion)
Cardio-facio-cutaneous syndrome
Gnot provided
BRAF
(S467A +7 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
BRAF
(F595L +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+3 more
GPathogenic/Likely pathogenic
PTPN11
(N298S +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+8 more
GConflicting classifications of pathogenicity
BRAF
(K483N +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+1 more
GLikely pathogenic
MAP2K2
(Y134C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(L485F +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(F595L +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
KRAS
(I36M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
KRAS
(G60V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRAS
(F156I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
+3 more
GPathogenic
BRAF
(D638E +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
BRAF
(A712D +7 more)
Single nucleotide variant
(missense variant +1 more)
Cardio-facio-cutaneous syndrome
+9 more
GConflicting classifications of pathogenicity
MAP2K1
Microsatellite
(intron variant)
RASopathy
GBenign
KRAS
(C180*)
Single nucleotide variant
(nonsense +1 more)
Cardio-facio-cutaneous syndrome
+2 more
GConflicting classifications of pathogenicity
BRAF
(Q262P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+2 more
GPathogenic/Likely pathogenic
BRAF
(F247V +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GLikely pathogenic
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GBenign/Likely benign
BRAF
Duplication
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
BRAF
(K601T +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(N581K +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+6 more
GPathogenic/Likely pathogenic
BRAF
(H574Y +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(E501Q +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
BRAF
(V487G +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(A481E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+2 more
GPathogenic/Likely pathogenic
MAP2K1
(L92R)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
MAP2K1
(L42F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Microsatellite
(3 prime UTR variant +2 more)
RASopathy
GBenign
BRAF
(K601Q +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+3 more
GPathogenic
MAP2K2
(E207K)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
MAP2K1
(D67N)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K1
(K57Q)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
MAP2K1
(Y130H)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
MAP2K1
(P124L)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
+4 more
GPathogenic/Likely pathogenic
BRAF
(K601I +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+3 more
GPathogenic/Likely pathogenic
BRAF
(V600G +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(G596V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(H574Q +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
BRAF
(D565E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+2 more
GPathogenic/Likely pathogenic
BRAF
(C532Y +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
BRAF
(E501V +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(K499N +7 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
BRAF
(L485S +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
BRAF
(K483Q +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+1 more
GPathogenic/Likely pathogenic
BRAF
(F468S +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
+6 more
GPathogenic/Likely pathogenic
BRAF
(G464A +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
(Q257K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
(T244P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+7 more
GPathogenic/Likely pathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+9 more
GPathogenic/Likely pathogenic
BRAF
(G534R +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
BRAF
(N581D +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(E501G +7 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GPathogenic/Likely pathogenic
BRAF
(E501K +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BRAF
(L485F +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(G469E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(G469R +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+1 more
GPathogenic/Likely pathogenic
BRAF
(L597V +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic
BRAF
(A246P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(G464E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
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