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Items: 1 to 100 of 838

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
TOP2B
Inversion
(stop lost)
not provided
GUncertain significance
TOP2B
(M1619V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(V1615D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(V1615I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TOP2B
Duplication
(inframe_insertion)
not provided
GUncertain significance
TOP2B
(E1612del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TOP2B
(D1618H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(E1612D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TOP2B
Deletion
(inframe_deletion)
not provided
GUncertain significance
RARB, TOP2B
(D1609E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(D1614Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(S1608Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Duplication
(inframe_insertion)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(A1606P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(F1605fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP2B
(F1605L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(V1607L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(R1602P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(G1596V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(G1601S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TOP2B
(T1600I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(R1594Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RARB, TOP2B
(R1594* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TOP2B
(P1598S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP2B
(L1597P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(E1593K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(T1587N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(T1587A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Duplication
(inframe_insertion)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(P1587A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(D1575E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(D1575A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(D1575N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(D1573G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TOP2B
Duplication
(inframe_insertion)
not provided
GUncertain significance
TOP2B
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
TOP2B
(T1570I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(P1567L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Duplication
(intron variant)
not provided
GBenign
TOP2B
Duplication
(intron variant)
not specified
+1 more
GBenign
TOP2B
Insertion
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Duplication
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TOP2B
Duplication
(intron variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TOP2B
(S1569T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(T1568del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TOP2B
(T1563I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TOP2B
(T1568A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TOP2B
(K1561R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(N1554K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(D1552N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TOP2B
(N1554S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TOP2B
(R1542Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(G1536R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Duplication
(intron variant)
not provided
GBenign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TOP2B
(T1531P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(K1528N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(P1526A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
(I1530M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOP2B
Duplication
(inframe_insertion)
not provided
GUncertain significance
TOP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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