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Items: 1 to 100 of 1008

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130003254, LOC130003255
+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
BAMBI, C10orf126
+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)
Thrombocytopenia 2
GBenign
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
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
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
(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)
Inborn genetic diseases
+1 more
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)
Thrombocytopenia 2
GBenign
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(N1687I +1 more)
Single nucleotide variant
(missense variant)
Thrombocytopenia 2
+1 more
GConflicting classifications of pathogenicity
ANKRD26
(D1683G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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
(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
(A1666T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(E1665fs +1 more)
Deletion
(frameshift variant)
Thrombocytopenia 2
GLikely pathogenic
ANKRD26
(K1664del +1 more)
Deletion
(inframe_deletion +1 more)
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)
Inborn genetic diseases
+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
(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
(Y1647H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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 provided
+1 more
GConflicting classifications of pathogenicity
ANKRD26
(R1638W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANKRD26
(S1633Y +1 more)
Single nucleotide variant
(missense variant)
ANKRD26-related condition
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
(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
(P1609T +1 more)
Single nucleotide variant
(missense variant)
ANKRD26-related condition
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
(R1594S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(Q1593H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD26
(K1591Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(L1587F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(R1578K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(E1578Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(N1576K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
ANKRD26
Single nucleotide variant
(intron variant)
Thrombocytopenia 2
GUncertain significance
ANKRD26
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ANKRD26
Microsatellite
(splice donor variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
ANKRD26
(T1573N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
(K1571R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD26
(S1569L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD26
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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