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Items: 1 to 100 of 1343

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999653, LOC129999654
+1380 more
Copy number gain
See cases
GPathogenic
C7orf33, CALD1
+1176 more
Copy number gain
See cases
GPathogenic
LOC129999666, LOC129999667
+1052 more
Copy number gain
See cases
GPathogenic
TMEM140, TMEM176A
+1046 more
Copy number gain
See cases
GPathogenic
LOC129999503, LOC129999504
+1025 more
Copy number gain
See cases
GPathogenic
LINC00996, LINC01003
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
WDR86, WDR86-AS1
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
TRBC1, TRBC2
+230 more
Copy number gain
See cases
GUncertain significance
BRAF, LOC126860202
+4 more
Copy number gain
See cases
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GBenign
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
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 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)
LEOPARD syndrome 3
+1 more
GBenign/Likely benign
BRAF, LOC126860202
+3 more
Duplication
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GUncertain significance
BRAF
(H766del +3 more)
Deletion
(inframe_deletion +1 more)
RASopathy
GUncertain significance
BRAF
(H744Y +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(V743L +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(P712L +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GUncertain significance
BRAF
(P712S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BRAF
(A740V +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(Y760C +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(G707fs +7 more)
Deletion
(frameshift variant +1 more)
RASopathy
GUncertain significance
BRAF
(G799E +1 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GLikely pathogenic
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(I703M +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(I755S +7 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
BRAF
(I718V +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
BRAF
(S707N +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(S707T +7 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
BRAF
(D742N +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
BRAF
(F650C +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(R647Q +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(R647W +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
BRAF
(S698F +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(P731S +7 more)
Single nucleotide variant
(missense variant +1 more)
Cardiofaciocutaneous syndrome 1
+1 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(R638C +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(L633V +7 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(R631H +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BRAF
(R719C +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
(I662V +7 more)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+7 more
GUncertain significance
BRAF
Single nucleotide variant
(synonymous variant +1 more)
not provided
+10 more
GBenign/Likely benign
BRAF
(A712V +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BRAF
(A712D +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
BRAF
(A690S +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(A752T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
BRAF
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
BRAF
Deletion
(intron variant +1 more)
Hypertrophic cardiomyopathy 4
GPathogenic
BRAF
Deletion
(intron variant +1 more)
not provided
GUncertain significance
BRAF
Duplication
(intron variant)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+2 more
GUncertain significance
BRAF
Duplication
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GConflicting classifications of pathogenicity
BRAF
Deletion
(intron variant)
BRAF-related disorder
GLikely benign
BRAF
Microsatellite
(intron variant)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
+1 more
GLikely benign
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+5 more
GBenign/Likely benign
BRAF
Microsatellite
(intron variant)
not specified
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
not specified
GLikely benign
BRAF
Deletion
(intron variant)
RASopathy
+3 more
GBenign/Likely benign
BRAF
Deletion
(intron variant)
RASopathy
GLikely benign
BRAF
Deletion
(intron variant)
RASopathy
GUncertain significance
BRAF
Insertion
(intron variant)
Cardiofaciocutaneous syndrome 1
+8 more
GBenign/Likely benign
BRAF
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
BRAF
Deletion
(intron variant)
BRAF-related disorder
+1 more
GLikely benign
BRAF
Indel
(intron variant)
RASopathy
+1 more
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
BRAF
Deletion
(intron variant)
Cardio-facio-cutaneous syndrome
+2 more
GUncertain significance
BRAF
Indel
(intron variant)
not specified
GBenign
BRAF
Deletion
(intron variant)
not specified
GBenign
BRAF
Duplication
(intron variant)
RASopathy
+2 more
GBenign/Likely benign
BRAF
Indel
(intron variant)
Cardio-facio-cutaneous syndrome
+2 more
GUncertain significance
BRAF
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
BRAF
Deletion
(intron variant)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
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