ClinVar for MedGen (Select 86230) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692308	NM_177438.3(DICER1):c.4849del (p.Leu1617fs)	DICER1 (L1056fs +4 more)	Deletion (frameshift variant +1 more)	Euthyroid goiter +1 more	GLikely pathogenic
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 1709045	NM_177438.3(DICER1):c.4292C>T (p.Ala1431Val)	DICER1 (A1242V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1698845	NM_177438.3(DICER1):c.712del (p.Thr238fs)	DICER1 (T103fs +3 more)	Deletion (frameshift variant +2 more)	Euthyroid goiter	GPathogenic
Select item 1687567	NM_177438.3(DICER1):c.5135dup (p.Leu1712fs)	DICER1 (L1151fs +4 more)	Duplication (frameshift variant +1 more)	DICER1-related tumor predisposition	GLikely pathogenic FDA Recognized database
Select item 1687238	NM_177438.3(DICER1):c.2257-2A>G	DICER1	Single nucleotide variant (splice acceptor variant)	DICER1-related tumor predisposition	GUncertain significance FDA Recognized database
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 1341335	NM_177438.3(DICER1):c.571A>C (p.Lys191Gln)	DICER1 (K191Q)	Single nucleotide variant (missense variant)	Euthyroid goiter +2 more	GUncertain significance
Select item 1255499	NM_177438.3(DICER1):c.4206+17del	DICER1	Deletion (intron variant)	DICER1-related tumor predisposition +2 more	GBenign
Select item 1087123	NM_177438.3(DICER1):c.4608T>C (p.Gly1536=)	DICER1	Single nucleotide variant (synonymous variant)	Euthyroid goiter +5 more	GLikely benign
Select item 997605	NM_177438.3(DICER1):c.2157dup (p.Val720fs)	DICER1 (V720fs)	Duplication (frameshift variant)	Euthyroid goiter	GPathogenic
Select item 929411	NM_177438.3(DICER1):c.2685dup (p.Phe896fs)	DICER1 (F896fs)	Duplication (frameshift variant)	Euthyroid goiter	GPathogenic
Select item 885932	NM_177438.3(DICER1):c.5604-12G>A	DICER1	Single nucleotide variant (intron variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +6 more	GBenign/Likely benign
Select item 824282	NM_177438.3(DICER1):c.3839G>T (p.Ser1280Ile)	DICER1 (S1280I)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +2 more	GUncertain significance
Select item 690474	NM_177438.3(DICER1):c.3988del (p.Tyr1330fs)	DICER1 (Y1330fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
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)	Rhabdomyosarcoma, embryonal, 2 +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)	DICER1-related tumor predisposition +3 more	GUncertain significance
Select item 543654	NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr)	DICER1 (I1297T)	Single nucleotide variant (missense variant)	Euthyroid goiter +3 more	GUncertain significance
Select item 483407	NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr)	DICER1 (M1492T)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GLikely benign FDA Recognized database
Select item 477185	NM_177438.3(DICER1):c.4206+9_4206+15del	DICER1	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 477160	NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg)	DICER1 (K1241R)	Single nucleotide variant (missense variant)	Euthyroid goiter +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)	Euthyroid goiter +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 412157	NM_177438.3(DICER1):c.128C>T (p.Thr43Met)	DICER1 (T43M)	Single nucleotide variant (missense variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +4 more	GConflicting classifications of pathogenicity
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)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +4 more	GUncertain significance
Select item 412081	NM_177438.3(DICER1):c.359A>T (p.Lys120Met)	DICER1 (K120M)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +3 more	GUncertain significance
Select item 412046	NM_177438.3(DICER1):c.3380T>G (p.Ile1127Ser)	DICER1 (I1127S)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +2 more	GConflicting classifications of pathogenicity
Select item 315105	NM_177438.3(DICER1):c.4206+9G>T	DICER1	Single nucleotide variant (intron variant)	Euthyroid goiter +3 more	GBenign/Likely benign
Select item 315100	NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg)	DICER1 (K1913R)	Single nucleotide variant (3 prime UTR variant +1 more)	DICER1-related tumor predisposition +4 more	GConflicting classifications of pathogenicity
Select item 254301	NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)	DICER1 (R656*)	Single nucleotide variant (nonsense)	Rhabdomyosarcoma, embryonal, 2 +6 more	GPathogenic
Select item 254297	NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter)	DICER1 (R624*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 242153	NM_177438.3(DICER1):c.920G>A (p.Arg307His)	DICER1 (R307H)	Single nucleotide variant (missense variant)	Rhabdomyosarcoma, embryonal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 242080	NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)	DICER1	Single nucleotide variant (synonymous variant)	DICER1-related tumor predisposition +6 more	GBenign/Likely benign
Select item 242053	NM_177438.3(DICER1):c.1908-4A>G	DICER1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 242044	NM_177438.3(DICER1):c.1510-4del	DICER1	Deletion (intron variant)	DICER1-related tumor predisposition +7 more	GBenign/Likely benign
Select item 242032	NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)	DICER1 (P375R)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GBenign FDA Recognized database
Select item 221128	NM_177438.3(DICER1):c.2370G>A (p.Arg790=)	DICER1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 221072	NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)	DICER1 (S1631A)	Single nucleotide variant (missense variant)	Breast neoplasm +9 more	GBenign/Likely benign
Select item 220838	NM_177438.3(DICER1):c.1377-4T>G	DICER1	Single nucleotide variant (intron variant)	Pleuropulmonary blastoma +7 more	GBenign/Likely benign
Select item 133973	NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp)	DICER1 (C1641W)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +7 more	GConflicting classifications of pathogenicity
Select item 30566	NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe)	DICER1 (S839F)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GLikely pathogenic FDA Recognized database
Select item 30565	NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter)	DICER1 (Y819*)	Single nucleotide variant (nonsense)	DICER1-related tumor predisposition	GLikely pathogenic
Select item 30564	NM_177438.3(DICER1):c.2805-1G>T	DICER1	Single nucleotide variant (splice acceptor variant)	DICER1-related tumor predisposition	GPathogenic
Select item 30563	NM_177438.3(DICER1):c.873_877del (p.Glu292fs)	DICER1 (E292fs)	Deletion (frameshift variant)	Euthyroid goiter	GPathogenic
Select item 30562	NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)	DICER1 (S1826*)	Single nucleotide variant (nonsense +1 more)	DICER1-related tumor predisposition	GPathogenic

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Items: 49