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Items: 1 to 100 of 305

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DICER1
(R1910Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(G1886R)
Single nucleotide variant
(3 prime UTR variant +1 more)
DICER1-related tumor predisposition
GUncertain significance
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(Y1835fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DICER1
(S1826*)
Single nucleotide variant
(nonsense +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1822V)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(Y1820*)
Single nucleotide variant
(nonsense +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(A1818T)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GUncertain significance
DICER1
Indel
(inframe_indel +1 more)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(S1814L)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1813D)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1813D)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
Single nucleotide variant
(synonymous variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1813V)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1813G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
DICER1
(E1813A)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(E1813S)
Inversion
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1813Q)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1813K)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1810V)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1810G)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1810Y)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GConflicting classifications of pathogenicity
DICER1
(D1810H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
DICER1
(D1810N)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1810Y)
Indel
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(G1809E)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(G1809W)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(G1809R)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(G1809R)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1799fs)
Deletion
(frameshift variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
Single nucleotide variant
(splice acceptor variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
Single nucleotide variant
(splice acceptor variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
+1 more
GConflicting classifications of pathogenicity
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
Deletion
(splice acceptor variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
Deletion
(splice acceptor variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(Q1783*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1778fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(L1777H)
Single nucleotide variant
(missense variant)
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
+3 more
GConflicting classifications of pathogenicity
DICER1
(F1772fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
+1 more
GPathogenic
DICER1
(H1767fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
+1 more
GPathogenic
DICER1
(K1751fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
Deletion
(inframe_deletion)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(L1732fs)
Duplication
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(R1725Q)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
+1 more
GUncertain significance
DICER1
(Y1721*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
GPathogenic
DICER1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
DICER1
(D1713A)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1713V)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(D1713N)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(G1708fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709E)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709E)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709V)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709C)
Indel
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
DICER1
(D1709Y)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709H)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1709N)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(G1708E)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
+1 more
GPathogenic/Likely pathogenic
DICER1
(E1705D)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1705V)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1705Q)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1705K)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(Q1702*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
GPathogenic
DICER1
(Y1701*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(G1564A +1 more)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(H1693N)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(Q1685*)
Single nucleotide variant
(nonsense)
Rhabdomyosarcoma, embryonal, 2
+1 more
GPathogenic
DICER1
(Y1675fs)
Indel
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(I1673fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1667*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
GPathogenic
DICER1
(D1654fs)
Duplication
(frameshift variant)
DICER1-related tumor predisposition
+1 more
GPathogenic
DICER1
Deletion
(nonsense)
DICER1-related tumor predisposition
+1 more
GPathogenic
DICER1
(S1637*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
GPathogenic
DICER1
(R1630L)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(R1630C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DICER1
(C1604*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
+1 more
GPathogenic
DICER1
(P1592L)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(S1585*)
Single nucleotide variant
(nonsense)
Pineoblastoma
+2 more
GPathogenic
DICER1
(L1583R)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(Q1580H)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GLikely benign
DICER1
(C1562fs)
Insertion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1551fs)
Insertion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(S1545fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DICER1
(Q1542fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(K1541*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DICER1
(T1539M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
DICER1
(C1535fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic
DICER1
(V1524fs)
Duplication
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(E1519fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
+1 more
GPathogenic
DICER1
(W1506*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DICER1
(S1504fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(K1486fs)
Deletion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(W1481*)
Duplication
(nonsense)
DICER1-related tumor predisposition
GPathogenic
DICER1
(W1481*)
Single nucleotide variant
(nonsense)
DICER1-related tumor predisposition
+1 more
GPathogenic/Likely pathogenic
DICER1
(D1476fs)
Insertion
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(T1474A)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
+1 more
GConflicting classifications of pathogenicity
DICER1
(S1470fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
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