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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(I2V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
Microsatellite
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 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
BRAF
Deletion
(intron variant)
RASopathy
+7 more
GLikely benign
BRAF
(A42S)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+7 more
GUncertain significance
BRAF
(G9A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
BRAF
(I662V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+7 more
GUncertain significance
BRAF
Insertion
(intron variant)
Cardiofaciocutaneous syndrome 1
+8 more
GBenign/Likely benign
BRAF
(L397W +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GPathogenic
BRAF, LOC126860202
(R266Q +4 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+8 more
GUncertain significance
BRAF
(Y545H +7 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+7 more
GUncertain significance
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
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
BRAF
(A38P)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GUncertain significance
BRAF
(S519F +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BRAF
(P404del +7 more)
Deletion
(inframe_deletion)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
(C230fs +4 more)
Deletion
(frameshift variant)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
(L294F +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
(M23V)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
+1 more
GUncertain significance
BRAF
(S342P +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GUncertain significance
BRAF
(S215F)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
(R260H)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
BRAF
(R477Q +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
BRAF
(L624F +1 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
+1 more
GConflicting classifications of pathogenicity
BRAF
(A752T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
BRAF
(G799E +1 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GLikely benign
BRAF
(P402H +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+10 more
GUncertain significance
BRAF
(E13D)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GLikely benign
BRAF
(Y647C +7 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
+6 more
GUncertain significance
BRAF
(P731S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BRAF
(Q461R +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GUncertain significance
BRAF
(G397D +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+3 more
GUncertain significance
BRAF
(L525Q +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BRAF
Single nucleotide variant
(intron variant)
LEOPARD syndrome 3
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 1
+8 more
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
+9 more
GBenign/Likely benign
BRAF
(V600L +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GPathogenic/Likely pathogenic
BRAF
(R389H +4 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GUncertain significance
BRAF
(R146Q +2 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GConflicting classifications of pathogenicity
BRAF, LOC126860202
(I342V +4 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
(T599R +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(F595L +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(F247L +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
Single nucleotide variant
(intron variant)
Noonan syndrome 1
+8 more
GBenign/Likely benign
BRAF, LOC126860202
Single nucleotide variant
(intron variant)
Noonan syndrome 1
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(intron variant)
not specified
+8 more
GBenign/Likely benign
KRAS
(I36M)
Single nucleotide variant
(missense variant)
KRAS-related condition
+6 more
GPathogenic/Likely pathogenic
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)
LEOPARD syndrome 3
+9 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(intron variant)
Lung cancer
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+10 more
GBenign/Likely benign
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
(A481E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+2 more
GPathogenic/Likely pathogenic
BRAF
(V413M +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiofaciocutaneous syndrome 1
+8 more
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GBenign
MAP2K2
(K61E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
BRAF
Single nucleotide variant
(intron variant)
Noonan syndrome 7
+8 more
GBenign/Likely benign
BRAF
(K601I +7 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
BRAF
(T599I +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)
not provided
+3 more
GConflicting classifications of pathogenicity
BRAF
(W531L +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
(E501V +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(E501A +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
BRAF
(K499N +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GPathogenic
BRAF
(L485S +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
BRAF
(F468S +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+6 more
GPathogenic/Likely pathogenic
BRAF
(G464A +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
(G464V +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic/Likely pathogenic
BRAF
Single nucleotide variant
(intron variant)
Noonan syndrome 7
+9 more
GBenign
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+10 more
GBenign/Likely benign
BRAF
(E26D)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GBenign/Likely benign
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+9 more
GPathogenic/Likely pathogenic
BRAF
(D638E +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 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
(K499E +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+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
(A246P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
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