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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(S1826*)
Single nucleotide variant
(nonsense +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
+1 more
GConflicting classifications of pathogenicity
DICER1
(L1583R)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GLikely pathogenic
DICER1
(E1420del)
Microsatellite
(inframe_deletion)
Pleuropulmonary blastoma
+4 more
GConflicting classifications of pathogenicity
DICER1
Duplication
(intron variant)
DICER1-related tumor predisposition
+2 more
GConflicting classifications of pathogenicity
DICER1
(R1003*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DICER1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
DICER1
(R944*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DICER1
(A872T)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GBenign
DICER1
(T798fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DICER1
(R676*)
Single nucleotide variant
(nonsense)
Pleuropulmonary blastoma
+3 more
GPathogenic
DICER1
(R656*)
Single nucleotide variant
(nonsense)
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
+6 more
GPathogenic
DICER1
(R544*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
DICER1
(E503*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DICER1
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
DICER1
(Q7R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
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