Related gene-specific medical variations for Gene (Select 23405) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068295	NM_177438.3(DICER1):c.1330G>T (p.Gly444Ter)	DICER1 (G255* +3 more)	Single nucleotide variant (nonsense +2 more)	Pleuropulmonary blastoma	GLikely pathogenic
Select item 3065493	NM_177438.3(DICER1):c.5494dup (p.Gln1832fs)	DICER1 (Q1271fs +4 more)	Duplication (frameshift variant +2 more)	Pleuropulmonary blastoma	GLikely pathogenic
Select item 3062048	NM_177438.3(DICER1):c.4909_4910del (p.Ser1637fs)	DICER1 (S1076fs +4 more)	Deletion (frameshift variant +1 more)	DICER1-related tumor predisposition	GLikely pathogenic
Select item 3062040	NM_177438.3(DICER1):c.4131del (p.Pro1377_Val1378insTer)	DICER1	Deletion (frameshift variant +2 more)	DICER1-related tumor predisposition	GLikely pathogenic
Select item 2681882	NM_177438.3(DICER1):c.5299dup (p.His1767fs)	DICER1 (H1206fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2681881	NM_177438.3(DICER1):c.4207-8C>A	DICER1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2681880	NM_177438.3(DICER1):c.3317C>G (p.Ser1106Cys)	DICER1 (S1012C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681878	NM_177438.3(DICER1):c.275A>G (p.Asn92Ser)	DICER1 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2681877	NM_177438.3(DICER1):c.242T>C (p.Leu81Pro)	DICER1 (L81P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2674838	NM_177438.3(DICER1):c.4979_4982dup (p.His1661fs)	DICER1 (H1100fs +4 more)	Duplication (frameshift variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GLikely pathogenic
Select item 2674835	NM_177438.3(DICER1):c.1153_1163del (p.Arg385fs)	DICER1 (R196fs +3 more)	Deletion (non-coding transcript variant +2 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GLikely pathogenic
Select item 2674834	NM_177438.3(DICER1):c.3316_3321delinsA (p.Ser1106fs)	DICER1 (S1012fs +4 more)	Indel (frameshift variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GLikely pathogenic
Select item 2674833	NM_177438.3(DICER1):c.4814del (p.Pro1605fs)	DICER1 (P1044fs +4 more)	Deletion (frameshift variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GLikely pathogenic
Select item 2674832	NM_177438.3(DICER1):c.2117-10A>G	DICER1	Single nucleotide variant (intron variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674830	NM_177438.3(DICER1):c.307+223A>G	DICER1	Single nucleotide variant (intron variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674829	NM_177438.3(DICER1):c.4828T>A (p.Phe1610Ile)	DICER1 (F1049I +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674827	NM_177438.3(DICER1):c.588T>G (p.Cys196Trp)	DICER1 (C102W +3 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674826	NM_177438.3(DICER1):c.130C>T (p.Pro44Ser)	DICER1 (P44S)	Single nucleotide variant (missense variant +3 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674824	NM_177438.3(DICER1):c.476T>G (p.Leu159Trp)	DICER1 (L159W +2 more)	Single nucleotide variant (missense variant +3 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674822	NM_177438.3(DICER1):c.2242T>C (p.Cys748Arg)	DICER1 (C187R +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674821	NM_177438.3(DICER1):c.4748T>C (p.Leu1583Pro)	DICER1 (L1022P +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674820	NM_177438.3(DICER1):c.1117del (p.Phe372_Val373insTer)	DICER1	Deletion (nonsense +3 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GLikely pathogenic
Select item 2674819	NM_177438.3(DICER1):c.1255G>A (p.Asp419Asn)	DICER1 (D230N +3 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674818	NM_177438.3(DICER1):c.2906C>G (p.Ala969Gly)	DICER1 (A408G +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674817	NM_177438.3(DICER1):c.2753C>G (p.Thr918Arg)	DICER1 (T357R +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674816	NM_177438.3(DICER1):c.2290C>T (p.Pro764Ser)	DICER1 (P203S +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674815	NM_177438.3(DICER1):c.574-21C>A	DICER1	Single nucleotide variant (intron variant)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674814	NM_177438.3(DICER1):c.2234G>A (p.Arg745Gln)	DICER1 (R184Q +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674813	NM_177438.3(DICER1):c.4313A>T (p.Tyr1438Phe)	DICER1 (Y1249F +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674812	NM_177438.3(DICER1):c.3424T>A (p.Ser1142Thr)	DICER1 (S1007T +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674811	NM_177438.3(DICER1):c.992A>G (p.Lys331Arg)	DICER1 (K142R +3 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674809	NM_177438.3(DICER1):c.5632G>A (p.Val1878Ile)	DICER1 (V1317I +4 more)	Single nucleotide variant (synonymous variant +3 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674806	NM_177438.3(DICER1):c.586T>G (p.Cys196Gly)	DICER1 (C102G +3 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2674804	NM_177438.3(DICER1):c.4957C>G (p.Pro1653Ala)	DICER1 (P1092A +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	GUncertain significance
Select item 2644493	NM_177438.3(DICER1):c.-291C>T	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2445318	NM_177438.3(DICER1):c.5146A>C (p.Ile1716Leu)	DICER1 (I1155L +4 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GLikely pathogenic
Select item 2440787	NM_177438.3(DICER1):c.3377C>G (p.Thr1126Arg)	DICER1 (T1032R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676595	NM_001195573.1(DICER1):c.2523A>G (p.Gln841=)	DICER1	Single nucleotide variant	DICER1-related tumor predisposition	GUncertain significance FDA Recognized database
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 1319734	NM_177438.3(DICER1):c.360G>A (p.Lys120=)	DICER1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1319610	NM_177438.3(DICER1):c.2436+14A>T	DICER1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1249586	NM_177438.3(DICER1):c.-272C>T	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1223292	NM_177438.3(DICER1):c.-270G>A	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1201326	NM_177438.3(DICER1):c.-46+92C>T	DICER1, LOC130056357	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198725	NM_177438.3(DICER1):c.-281G>T	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1065544	NM_177438.2:c.(734+1_735-1)_(2256+1_2257-1)dup	DICER1	Duplication	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 887066	NM_177438.3(DICER1):c.-122G>A	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition	GBenign
Select item 887065	NM_177438.3(DICER1):c.-93G>C	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition	GUncertain significance
Select item 690485	NM_177438.3(DICER1):c.3071G>A (p.Trp1024Ter)	DICER1 (W1024*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 690484	NM_177438.3(DICER1):c.727_730del (p.Leu243fs)	DICER1 (L243fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 690483	NM_177438.3(DICER1):c.714_717del (p.Asp239fs)	DICER1 (D239fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 690479	NM_177438.3(DICER1):c.4956_4959del (p.His1652fs)	DICER1 (H1652fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 690478	NM_177438.3(DICER1):c.4695_4700del (p.Leu1566_Leu1567del)	DICER1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 690477	NM_177438.3(DICER1):c.4147C>T (p.Pro1383Ser)	DICER1 (P1383S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 690473	NM_177438.3(DICER1):c.3737del (p.Asn1246fs)	DICER1 (N1246fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 690471	NM_177438.3(DICER1):c.3419C>T (p.Thr1140Ile)	DICER1 (T1140I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 690470	NM_177438.3(DICER1):c.3293G>A (p.Trp1098Ter)	DICER1 (W1098*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 690466	NM_177438.3(DICER1):c.2628C>A (p.Tyr876Ter)	DICER1 (Y876*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 690462	NM_177438.3(DICER1):c.1509G>A (p.Glu503=)	DICER1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 690460	NM_177438.3(DICER1):c.1355dup (p.Tyr452Ter)	DICER1 (Y452*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 690457	NM_177438.3(DICER1):c.809_812dup (p.Met272fs)	DICER1 (M272fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 690456	NM_177438.3(DICER1):c.5216T>C (p.Leu1739Pro)	DICER1 (L1739P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 690453	NM_177438.3(DICER1):c.5126A>C (p.Asp1709Ala)	DICER1 (D1709A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 690450	NM_177438.3(DICER1):c.438+1G>A	DICER1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 690447	NM_177438.3(DICER1):c.3269+1G>A	DICER1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 690446	NM_177438.3(DICER1):c.2767A>T (p.Lys923Ter)	DICER1 (K923*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 690444	NM_177438.3(DICER1):c.2606_2607del (p.Pro869fs)	DICER1 (P869fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 690441	NM_177438.3(DICER1):c.2317A>G (p.Ile773Val)	DICER1 (I773V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 690440	NM_177438.3(DICER1):c.2281dup (p.Tyr761fs)	DICER1 (Y761fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 690439	NM_177438.3(DICER1):c.1908-1G>T	DICER1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 315119	NM_177438.3(DICER1):c.-192C>G	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition	GUncertain significance
Select item 315118	NM_177438.3(DICER1):c.-164C>T	LOC130056358, DICER1	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition +1 more	GBenign/Likely benign
Select item 315117	NM_177438.3(DICER1):c.-156A>C	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition	GUncertain significance
Select item 315116	NM_177438.3(DICER1):c.-144G>C	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition	GUncertain significance
Select item 315115	NM_177438.3(DICER1):c.-73C>T	DICER1, LOC130056358	Single nucleotide variant (5 prime UTR variant +1 more)	DICER1-related tumor predisposition +1 more	GBenign
Select item 261922	NM_177438.3(DICER1):c.307+11del	DICER1	Deletion (intron variant)	not specified	GLikely benign

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Items: 76