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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(D22E)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
GUncertain significance
BRAF
(I484V +7 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
BRAF
(M532V +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
GUncertain significance
BRAF
Microsatellite
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
+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
(E187K +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+1 more
GPathogenic/Likely pathogenic
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)
RASopathy
+8 more
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant)
Noonan syndrome 1
+7 more
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant)
LEOPARD syndrome 3
+9 more
GConflicting classifications of pathogenicity
BRAF
(A38P)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+8 more
GUncertain significance
BRAF
(L545V +7 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BRAF, LOC129999507
Single nucleotide variant
(5 prime UTR variant)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(5 prime UTR variant)
LEOPARD syndrome 3
+1 more
GUncertain significance
BRAF, LOC126860202
(D318E +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+2 more
GUncertain significance
BRAF, LOC126860202
(Q268E +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
(S342P +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
(R136T +3 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
(E611G +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant)
Cardiofaciocutaneous syndrome 1
+9 more
GLikely benign
BRAF
(P402H +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+10 more
GUncertain significance
BRAF
(W531S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
GPathogenic
BRAF
(I463V +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
GLikely pathogenic
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)
not provided
+6 more
GUncertain significance
BRAF
(G397D +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+3 more
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
LEOPARD syndrome 3
+8 more
GBenign/Likely benign
BRAF, LOC126860202
Single nucleotide variant
(synonymous variant)
RASopathy
+4 more
GConflicting classifications of pathogenicity
BRAF
(G106R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
BRAF
(V157I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
BRAF
(Y85C +2 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+2 more
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
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
(G466E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
BRAF
(R389H +4 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+7 more
GUncertain significance
BRAF
(R146Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
LOC126860202, BRAF
Single nucleotide variant
(intron variant)
LEOPARD syndrome 3
+3 more
GConflicting classifications of pathogenicity
BRAF, LOC126860202
(I342V +4 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GBenign
BRAF
(L525P +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+1 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
BRAF
(A712D +7 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 7
+8 more
GPathogenic/Likely pathogenic
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(5 prime UTR variant)
not specified
+5 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(intron variant)
Lung cancer
+8 more
GBenign/Likely benign
BRAF
(E24D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
not provided
+10 more
GBenign/Likely benign
BRAF
(N581K +7 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
BRAF
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BRAF
(V413M +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 7
+8 more
GUncertain significance
BRAF, LOC126860202
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
BRAF
Single nucleotide variant
(intron variant)
Noonan syndrome 7
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
(K601I +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GPathogenic/Likely pathogenic
BRAF
(L485S +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(intron variant)
Noonan syndrome 7
+9 more
GBenign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
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)
not provided
+10 more
GBenign/Likely benign
BRAF
(E26D)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+7 more
GBenign/Likely benign
BRAF
(D22N)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
BRAF
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
BRAF
(W531C +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
BRAF
(T241R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
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)
not provided
+7 more
GPathogenic/Likely pathogenic
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
(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
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