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Items: 1 to 100 of 1196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
ABI1, ANKRD26
+38 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+101 more
Copy number loss
See cases
GPathogenic
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GBenign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Deletion
(3 prime UTR variant)
Thrombocytopenia
GLikely benign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
+1 more
GBenign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GBenign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GBenign
ANKRD26
Duplication
(3 prime UTR variant)
Thrombocytopenia
GLikely benign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Deletion
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
ANKRD26
(I1709M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
ANKRD26-related disorder
GLikely benign
ANKRD26
(Y1707* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ANKRD26
(V1702I +1 more)
Single nucleotide variant
(missense variant)
Thrombocytopenia 2
+1 more
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(Q1701H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(V1700fs +1 more)
Deletion
(frameshift variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
(V1700I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ANKRD26
(Y1699fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
ANKRD26
(Y1699H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(A1696T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(N1687I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANKRD26
(D1683G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANKRD26
(I1675M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(L1671W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(splice donor variant)
ANKRD26-related disorder
GUncertain significance
ANKRD26
(A1666T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(E1665fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ANKRD26
(K1664del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
ANKRD26
(L1663F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(T1660A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(T1660P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD26
(I1659M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANKRD26
(N1659fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
ANKRD26
(N1658fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ANKRD26
(L1656V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ANKRD26
Duplication
(intron variant)
ANKRD26-related disorder
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANKRD26
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ANKRD26
(Y1647H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD26
(M1644T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(N1642D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(R1638Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ANKRD26
(R1638W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANKRD26
(T1634I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(S1633Y +1 more)
Single nucleotide variant
(missense variant)
ANKRD26-related disorder
GUncertain significance
ANKRD26
(S1633P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(I1632N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(L1630fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ANKRD26
(P1627S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANKRD26
(I1625L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(D1619Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(N1615Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANKRD26
(L1614R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(V1612M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(C1610G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(P1610S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD26
(P1609T +1 more)
Single nucleotide variant
(missense variant)
ANKRD26-related disorder
GUncertain significance
ANKRD26
(M1606R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(T1603S +1 more)
Single nucleotide variant
(missense variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
(T1599A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(S1595P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(R1594S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(Q1593H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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