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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
ABRACL, AHI1
+260 more
Deletion
Autoinflammatory syndrome, familial, Behcet-like
GPathogenic
MYB
(R4S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Deletion
(intron variant)
not provided
GBenign
MYB
Single nucleotide variant
(synonymous variant +1 more)
MYB-related disorder
GLikely benign
MYB
(D178fs)
Deletion
(frameshift variant +1 more)
MYB-related disorder
GUncertain significance
MYB
(D178G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYB
(K216R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MYB
(P260A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(A278T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
MYB
(C287W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MYB
(T336I +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
MYB
Single nucleotide variant
(synonymous variant +2 more)
MYB-related disorder
GLikely benign
MYB
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
MYB
(S405P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MYB
(F414L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(Q435K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(M452I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(A488D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(I483L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MYB
(N376D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(S418P +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(T543N +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MYB
(P420H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(L339V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(D403H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(D353E +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(K360N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(T448A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(I370V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(R465G +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
MYB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MYB
(H387R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(M451L +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Single nucleotide variant
(intron variant)
not provided
GBenign
MYB
(E423A +6 more)
Single nucleotide variant
(missense variant +1 more)
MYB-related disorder
GLikely benign
MYB
(G425E +6 more)
Single nucleotide variant
(missense variant +1 more)
MYB-related disorder
GLikely benign
MYB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MYB
(K525R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(F471L +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MYB
(S542T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYB
(A561E +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(C718Y +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(S622P +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
(S621T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MYB
Single nucleotide variant
(synonymous variant +1 more)
MYB-related disorder
GBenign
ABRACL, ADAT2
+69 more
Copy number gain
not specified
GPathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
AHI1, AKAP7
+69 more
Copy number loss
not provided
GPathogenic
AHI1, AKAP7
+30 more
Copy number loss
not provided
GPathogenic
MYB, NHSL1
+32 more
Copy number loss
not provided
GPathogenic
SLC35D3, IFNGR1
+32 more
Copy number loss
not provided
GPathogenic
ABRACL, ADAT2
+49 more
Copy number loss
not provided
GPathogenic
ALDH8A1, PDE7B
+31 more
Copy number loss
not provided
GPathogenic
ALDH8A1, VNN2
+37 more
Copy number loss
not provided
GPathogenic
MYB, NFIB
Translocation
Adenoid cystic carcinoma
GPathogenic
MYB, NFIB
Translocation
Adenoid cystic carcinoma
GPathogenic
NFIB, MYB
Translocation
Adenoid cystic carcinoma
GPathogenic
MYB, NFIB
Translocation
Adenoid cystic carcinoma
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ABRACL, ADAT2
+41 more
Copy number loss
See cases
GPathogenic
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