ClinVar for MedGen (Select 357232) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2020385	NM_177438.3(DICER1):c.3093+1G>A	DICER1	Single nucleotide variant (splice donor variant)	Pleuropulmonary blastoma +4 more	GLikely pathogenic
Select item 1698913	NM_177438.3(DICER1):c.5326C>T (p.Gln1776Ter)	DICER1 (Q1215* +4 more)	Single nucleotide variant (nonsense +1 more)	Rhabdomyosarcoma, embryonal, 2	GPathogenic
Select item 1596046	NM_177438.3(DICER1):c.3269+12C>T	DICER1	Single nucleotide variant (intron variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +5 more	GLikely benign
Select item 1407132	NM_177438.3(DICER1):c.1377-18T>A	DICER1	Single nucleotide variant (intron variant)	Euthyroid goiter +4 more	GConflicting classifications of pathogenicity
Select item 1327093	NM_177438.3(DICER1):c.2069C>A (p.Ala690Asp)	DICER1 (A690D)	Single nucleotide variant (missense variant)	Rhabdomyosarcoma, embryonal, 2	GUncertain significance
Select item 1087123	NM_177438.3(DICER1):c.4608T>C (p.Gly1536=)	DICER1	Single nucleotide variant (synonymous variant)	DICER1-related tumor predisposition +5 more	GLikely benign
Select item 885932	NM_177438.3(DICER1):c.5604-12G>A	DICER1	Single nucleotide variant (intron variant)	Euthyroid goiter +6 more	GBenign/Likely benign
Select item 690455	NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu)	DICER1 (P1724L)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GUncertain significance FDA Recognized database
Select item 644692	NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu)	DICER1 (P737L)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +5 more	GUncertain significance
Select item 577152	NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile)	DICER1 (M1483I)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GUncertain significance FDA Recognized database
Select item 569594	NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser)	DICER1 (N1193S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 543654	NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr)	DICER1 (I1297T)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +3 more	GUncertain significance
Select item 483407	NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr)	DICER1 (M1492T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 477160	NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg)	DICER1 (K1241R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 477106	NM_177438.3(DICER1):c.2536A>G (p.Ile846Val)	DICER1 (I846V)	Single nucleotide variant (missense variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +4 more	GConflicting classifications of pathogenicity
Select item 417112	NM_177438.3(DICER1):c.1770T>C (p.Cys590=)	DICER1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 412119	NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)	DICER1 (S1814L)	Single nucleotide variant (missense variant +1 more)	DICER1-related tumor predisposition	GPathogenic FDA Recognized database
Select item 412093	NM_177438.3(DICER1):c.2494A>G (p.Lys832Glu)	DICER1 (K832E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412081	NM_177438.3(DICER1):c.359A>T (p.Lys120Met)	DICER1 (K120M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 315100	NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg)	DICER1 (K1913R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 254341	NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter)	DICER1 (Q1685*)	Single nucleotide variant (nonsense)	Rhabdomyosarcoma, embryonal, 2 +1 more	GPathogenic
Select item 254301	NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)	DICER1 (R656*)	Single nucleotide variant (nonsense)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +6 more	GPathogenic
Select item 242153	NM_177438.3(DICER1):c.920G>A (p.Arg307His)	DICER1 (R307H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 242080	NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)	DICER1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 242053	NM_177438.3(DICER1):c.1908-4A>G	DICER1	Single nucleotide variant (intron variant)	Euthyroid goiter +6 more	GBenign/Likely benign
Select item 242044	NM_177438.3(DICER1):c.1510-4del	DICER1	Deletion (intron variant)	Euthyroid goiter +7 more	GBenign/Likely benign
Select item 225888	NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)	DICER1 (S1470fs)	Deletion (frameshift variant)	Rhabdomyosarcoma, embryonal, 2 +4 more	GPathogenic
Select item 221128	NM_177438.3(DICER1):c.2370G>A (p.Arg790=)	DICER1	Single nucleotide variant (synonymous variant)	Pleuropulmonary blastoma +7 more	GBenign
Select item 221072	NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)	DICER1 (S1631A)	Single nucleotide variant (missense variant)	Pleuropulmonary blastoma +9 more	GBenign/Likely benign
Select item 220838	NM_177438.3(DICER1):c.1377-4T>G	DICER1	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 133973	NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp)	DICER1 (C1641W)	Single nucleotide variant (missense variant)	Euthyroid goiter +7 more	GConflicting classifications of pathogenicity
Select item 66096	NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs)	DICER1 (Y1204fs)	Indel (frameshift variant)	DICER1-related tumor predisposition	GPathogenic
Select item 66095	NM_177438.3(DICER1):c.3907_3908del (p.Leu1303fs)	DICER1 (L1303fs)	Microsatellite (frameshift variant)	DICER1-related tumor predisposition	GPathogenic

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Items: 33