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Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DICER1
Single nucleotide variant
(splice donor variant)
Pleuropulmonary blastoma
+4 more
GLikely pathogenic
DICER1
(Q1215* +4 more)
Single nucleotide variant
(nonsense +1 more)
Rhabdomyosarcoma, embryonal, 2
GPathogenic
DICER1
Single nucleotide variant
(intron variant)
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
+5 more
GLikely benign
DICER1
Single nucleotide variant
(intron variant)
Euthyroid goiter
+4 more
GConflicting classifications of pathogenicity
DICER1
(A690D)
Single nucleotide variant
(missense variant)
Rhabdomyosarcoma, embryonal, 2
GUncertain significance
DICER1
Single nucleotide variant
(synonymous variant)
Euthyroid goiter
+5 more
GLikely benign
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
+6 more
GBenign/Likely benign
DICER1
(P1724L)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(P737L)
Single nucleotide variant
(missense variant)
Rhabdomyosarcoma, embryonal, 2
+5 more
GUncertain significance
DICER1
(M1483I)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GUncertain significance
DICER1
(N1193S)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
+3 more
GUncertain significance
DICER1
(I1297T)
Single nucleotide variant
(missense variant)
Euthyroid goiter
+3 more
GUncertain significance
DICER1
(M1492T)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GLikely benign
DICER1
(K1241R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
DICER1
(I846V)
Single nucleotide variant
(missense variant)
Euthyroid goiter
+4 more
GConflicting classifications of pathogenicity
DICER1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GLikely benign
DICER1
(S1814L)
Single nucleotide variant
(missense variant +1 more)
DICER1-related tumor predisposition
GPathogenic
DICER1
(K832E)
Single nucleotide variant
(missense variant)
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
+4 more
GUncertain significance
DICER1
(K120M)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
+3 more
GUncertain significance
DICER1
(K1913R)
Single nucleotide variant
(3 prime UTR variant +1 more)
DICER1-related tumor predisposition
+4 more
GConflicting classifications of pathogenicity
DICER1
(Q1685*)
Single nucleotide variant
(nonsense)
Rhabdomyosarcoma, embryonal, 2
+1 more
GPathogenic
DICER1
(R656*)
Single nucleotide variant
(nonsense)
Rhabdomyosarcoma, embryonal, 2
+6 more
GPathogenic
DICER1
(R307H)
Single nucleotide variant
(missense variant)
Rhabdomyosarcoma, embryonal, 2
+6 more
GConflicting classifications of pathogenicity
DICER1
Single nucleotide variant
(synonymous variant)
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
+6 more
GBenign/Likely benign
DICER1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
DICER1
Deletion
(intron variant)
DICER1-related tumor predisposition
+7 more
GBenign/Likely benign
DICER1
(S1470fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
DICER1
Single nucleotide variant
(synonymous variant)
DICER1-related tumor predisposition
+7 more
GBenign
DICER1
(S1631A)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
DICER1
Single nucleotide variant
(intron variant)
DICER1-related tumor predisposition
+7 more
GBenign/Likely benign
DICER1
(C1641W)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
+7 more
GConflicting classifications of pathogenicity
DICER1
(Y1204fs)
Indel
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
DICER1
(L1303fs)
Microsatellite
(frameshift variant)
DICER1-related tumor predisposition
GPathogenic
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