Unique variants in the DICER1 gene

Information The variants shown are described using the NM_177438.2 transcript reference sequence.

168 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 4 - c.20A>G r.(?) p.(Gln7Arg) - likely benign g.95599776T>C g.95133439T>C DICER1(NM_030621.4):c.20A>G (p.Q7R), DICER1(NM_177438.2):c.20A>G (p.Q7R) - DICER1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/? 1 4 c.328_338dup r.(?) p.(Gln249Serfs*23) - pathogenic g.95597946_95597956dup g.95131609_95131619dup - - DICER1_000068 - PubMed: Pugh 2014 - - Germline - - - - - -
?/. 1 - c.383A>C r.(?) p.(Glu128Ala) - VUS g.95597901T>G g.95131564T>G DICER1(NM_030621.4):c.383A>C (p.E128A) - DICER1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.439-7A>T r.(=) p.(=) - likely benign g.95596536T>A g.95130199T>A DICER1(NM_177438.2):c.439-7A>T - DICER1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.485G>A r.(?) p.(Gly162Asp) - likely benign g.95596483C>T - DICER1(NM_030621.4):c.485G>A (p.G162D) - DICER1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 5 c.559C>T r.(?) p.(Arg187*) - pathogenic g.95596409G>A g.95130072G>A - - DICER1_000050 - PubMed: Brenneman 2015 - - Germline - - - - - Nancy Hamel
+/. 1 - c.734+1G>C r.spl? p.? - pathogenic g.95595808C>G g.95129471C>G - - DICER1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 7 c.745C>T r.(?) p.(Gln249*) - pathogenic g.95593075G>A g.95126738G>A - - DICER1_000099 Somatic mosaicism was shown for this mutation PubMed: Rio Frio 2011 - - De novo - - - - - Nancy Hamel
+/? 1 7 c.876_879del r.0 p.0 - pathogenic g.95592946_95592949del g.95126609_95126612del - - DICER1_000014 variant allele subject to nonsense-mediated decay, no variant mRNA detected in untreated cells. PubMed: Foulkes 2011; PubMed: Wu 2013 - - Germline - - - - - Nancy Hamel
+/? 1 8 c.912_919dup r.(?) p.(Arg307Glnfs*8) - pathogenic g.95590992_95590999dup g.95124655_95124662dup - - DICER1_000025 - PubMed: Sabbaghian 2012 - - Germline - - - - - Nancy Hamel
+/? 1 8 c.1128_1132del r.(?) p.(Lys376Asnfs*11) - pathogenic g.95590780_95590784del g.95124443_95124447del - - DICER1_000026 - Submitted by Erasmus MC - - Germline - - - - - Nancy Hamel
+/., +?/? 2 8 c.1144G>T r.(?) p.(Glu382*), p.(Glu382Ter) - likely pathogenic, pathogenic g.95590765C>A g.95124428C>A DICER1(NM_030621.4):c.1144G>T (p.E382*) - DICER1_000084 VKGL data sharing initiative Nederland PubMed: Slade 2011 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 8 c.1153del r.(?) p.(Arg385Alafs*73) - pathogenic g.95590756del g.95124419del - - DICER1_000069 - PubMed: Brenneman 2015 - - Germline - - - - - -
+/? 1 8 c.1165_1174dup r.(?) p.(Arg392Profs*3) - pathogenic g.95590735_95590744dup g.95124398_95124407dup - - DICER1_000097 Somatic mosaicism was shown for this mutation PubMed: Slade 2011 - - De novo - - - - - Nancy Hamel
+/. 1 - c.1180C>T r.(?) p.(Gln394Ter) - pathogenic g.95590729G>A g.95124392G>A DICER1(NM_030621.4):c.1180C>T (p.Q394*) - DICER1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 8 c.1196_1197dup r.(?) p.(Trp400Serfs*59) - pathogenic g.95590713_95590714dup g.95124376_95124377dup - - DICER1_000070 - Submitted by Erasmus MC, PubMed: de Kock 2015 - - Germline - - - - - Nancy Hamel
+/., +?/? 2 8 c.1198dup r.(?) p.(Trp400Leufs*3), p.(Trp400LeufsTer3) - likely pathogenic, pathogenic g.95590711dup g.95124374dup DICER1(NM_030621.4):c.1198dupT (p.W400Lfs*3) - DICER1_000085, DICER1_000166 VKGL data sharing initiative Nederland PubMed: de Kock 2014 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 8 c.1284del r.(?) p.(K429Afs*47) - pathogenic g.95590625del g.95124288del - - DICER1_000028 - PubMed: Foulkes 2011; PubMed: Wu 2013 - - Germline - - - - - Nancy Hamel
+/? 1 8 c.1306dup r.(?) p.(Ser436Phefs*41) - pathogenic g.95590604dup g.95124267dup - - DICER1_000013 - PubMed: Schultz 2011 - - Germline - - - - - Nancy Hamel
+/? 1 8i c.1376+1G>T r.(spl?) p.(Leu303Aspfs*16) - pathogenic g.95590532C>A g.95124195C>A - - DICER1_000059 [exon 8 skip, fs] PubMed: Seki 2014 - - Germline - - - - - Nancy Hamel
-/., -?/., ?/. 3 8i c.1377-4T>G r.(?), r.spl? p.(=), p.(?), p.? ACMG benign, likely benign, VUS g.95584095A>C g.95117758A>C DICER1(NM_030621.4):c.1377-4T>G - DICER1_000167 VKGL data sharing initiative Nederland - - rs192490028 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, Maximiliano Zeballos
+/? 1 9 c.1383_1386del r.(?) p.(Ile461Metfs*18) - pathogenic g.95584082_95584085del g.95117745_95117748del - - DICER1_000063 - PubMed: de Kock 2014 - - Germline - - - - - Nancy Hamel
+/., +/?, +?/? 3 9 c.1498A>T r.(?) p.(Lys500*), p.(Lys500Ter) - likely pathogenic, pathogenic g.95583970T>A g.95117633T>A DICER1(NM_030621.4):c.1498A>T (p.K500*) - DICER1_000029 VKGL data sharing initiative Nederland Submitted by Erasmus MC, PubMed: Hill 2009 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 9 c.1507G>T r.1507g>u p.Glu503* - pathogenic g.95583961C>A g.95117624C>A - - DICER1_000001 variant RNA reduced; mapped by linkage Submitted by Erasmus MC - - Germline - - - - - -
?/., ?/? 2 9 c.1509G>A r.(?), r.(spl?) p.(?), p.(Glu503=) - VUS g.95583959C>T g.95117622C>T DICER1(NM_030621.4):c.1509G>A (p.E503=) - DICER1_000086 Predicted effect on splicing by in silico modeling, VKGL data sharing initiative Nederland PubMed: de Kock 2014 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
-?/. 1 - c.1509+10A>G r.(=) p.(=) - likely benign g.95583949T>C - DICER1(NM_030621.4):c.1509+10A>G - DICER1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1510-4del r.spl? p.? - likely benign g.95583045del g.95116708del DICER1(NM_030621.4):c.1510-4delT - DICER1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +/? 2 10 c.1525C>T r.(?) p.(Arg509*), p.(Arg509Ter) - pathogenic g.95583017G>A g.95116680G>A - - DICER1_000030 VKGL data sharing initiative Nederland PubMed: Oost 2015 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Nijmegen
+/? 1 10 c.1532_1533del r.(?) p.(His511Argfs*16) - pathogenic g.95583009_95583010del g.95116672_95116673del - - DICER1_000108 - PubMed: Hill 2009 - - Germline - - - - - Nancy Hamel
+/? 1 10 c.1630C>T r.(?) p.(Arg544*) - pathogenic g.95582912G>A g.95116575G>A - - DICER1_000006 - PubMed: Hill 2009 - - Germline - - - - - -
+/? 1 10 c.1684_1685del r.(?) p.(Met562Valfs*11) - pathogenic g.95582857_95582858del g.95116520_95116521del - - DICER1_000023 - PubMed: Slade 2011 - - Germline - - - - - -
+/? 2 10 c.1716del r.(?) p.(Phe572Leufs*15) - pathogenic g.95582829del g.95116492del - - DICER1_000071, DICER1_000101 Somatic mosaicism was shown for this mutation PubMed: Brenneman 2015, PubMed: Murray 2014 - - De novo, Germline - - - - - Nancy Hamel
-?/. 1 - c.1800C>T r.(?) p.(Asp600=) - likely benign g.95582111G>A - - - DICER1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 11 c.1801_1805dup r.(?) p.(Asp602Glufs*17) - pathogenic g.95582106_95582110dup g.95115769_95115773dup - - DICER1_000049 - PubMed: Hill 2009 - - Germline - - - - - Nancy Hamel
+/. 1 - c.1907+1G>A r.spl? p.? - pathogenic g.95582003C>T - - - DICER1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 12 c.1910dup r.(?) p.(Tyr637*) - pathogenic g.95579559dup g.95113222dup - - DICER1_000008 - PubMed: Hill 2009 - - Germline - - - - - -
-/. 2 - c.1935G>A r.(?) p.(Pro645=) - benign g.95579534C>T g.95113197C>T DICER1(NM_030621.4):c.1935G>A (p.P645=), DICER1(NM_177438.2):c.1935G>A (p.P645=) - DICER1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/? 4 12 c.1966C>T r.(?) p.(Arg656*) - pathogenic g.95579503G>A g.95113166G>A - - DICER1_000002 - PubMed: de Kock 2014, PubMed: Foulkes 2011, PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/., +/? 3 12 c.2026C>T r.(?) p.(Arg676*) ACMG pathogenic g.95579443G>A g.95113106G>A - - DICER1_000031 ACMG: PVS1,PM2,PP5; de Kock et al. 2014. Acta Neuropathol 128: 111 PubMed: de Kock 2014, PubMed: Pugh 2014 - rs878855246 Germline - - - - - Andreas Laner, Nancy Hamel
+/? 2 12i c.2040+1G>T r.(spl?) p.(Tyr637Valfs*4) - pathogenic g.95579428C>A g.95113091C>A - - DICER1_000051 [exon 12 skip, fs] PubMed: Foulkes 2011; PubMed: Wu 2013, PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
?/. 1 - c.2040+5G>A r.(?) p.(?) - VUS g.95579424C>T - - - DICER1_000181 - - - - Unknown - - - - - Gunnar Schmidt
?/. 1 - c.2108A>G r.(?) p.(His703Arg) - VUS g.95578517T>C g.95112180T>C DICER1(NM_001195573.1):c.2108A>G (p.(His703Arg)) - DICER1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 1 13i c.2117-1G>A r.0 (NMD) p.0 - pathogenic g.95577794C>T g.95111457C>T - - DICER1_000010 Nonsense-mediated decay of the mutated RNA was confirmed. No mutant RNA observed in untreated cells. Submitted by Erasmus MC - - Germline - - - - - Nancy Hamel
-?/. 1 - c.2209C>T r.(?) p.(Pro737Ser) - likely benign g.95577701G>A g.95111364G>A DICER1(NM_177438.2):c.2209C>T (p.P737S) - DICER1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +?/? 2 14 c.2233C>T r.(?) p.(Arg745*), p.(Arg745Ter) - likely pathogenic, pathogenic g.95577677G>A g.95111340G>A DICER1(NM_030621.4):c.2233C>T (p.R745*) - DICER1_000087 VKGL data sharing initiative Nederland PubMed: Brenneman 2015 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 14 c.2236A>G r.(?) p.(Arg746Gly) - pathogenic g.95577674T>C g.95111337T>C - - DICER1_000100 Somatic mosaicism was shown for this mutation PubMed: Hill 2009 - - De novo - - - - - Nancy Hamel
+/? 1 14 c.2245_2248dup r.2245_2248dup p.Pro750Leufs*12 - pathogenic g.95577663_95577666dup g.95111326_95111329dup - - DICER1_000024 variant RNA reduced PubMed: Schultz 2011 - - Germline - - - - - -
+/? 1 14 c.2246_2247insACTA r.(?) p.(Tyr749*) - pathogenic g.95577666_95577667insTTAG g.95111329_95111330insTTAG - - DICER1_000060 - PubMed: Hill 2009 - - Germline - - - - - Nancy Hamel
+/? 1 14 c.2247C>A r.2247c>a p.Tyr749* - pathogenic g.95577663G>T g.95111326G>T - - DICER1_000005 variant RNA reduced; mapped by linkage Submitted by Erasmus MC - - Germline - - - - - -
+/., +?/? 2 14i c.2256+1G>C r.(spl?), r.spl? p.(?), p.? - likely pathogenic, pathogenic g.95577653C>G g.95111316C>G DICER1(NM_030621.4):c.2256+1G>C - DICER1_000088 Putative splice defect, VKGL data sharing initiative Nederland Submitted by Erasmus MC - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
?/., ?/? 2 14i c.2257-7A>G r.(=), r.(spl?) p.(=), p.(?) - VUS g.95574847T>C g.95108510T>C DICER1(NM_030621.4):c.2257-7A>G - DICER1_000089 Predicted effect on splicing by in silico modeling, VKGL data sharing initiative Nederland PubMed: Slade 2011 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 15 c.2268_2271del r.(?) p.(Cys756*) - pathogenic g.95574828_95574831del g.95108491_95108494del - - DICER1_000072 - PubMed: de Kock 2014 - - Germline - - - - - -
-/., -?/. 2 - c.2370G>A r.(?) p.(Arg790=) - benign, likely benign g.95574727C>T g.95108390C>T DICER1(NM_030621.4):c.2370G>A (p.R790=), DICER1(NM_177438.2):c.2370G>A (p.R790=) - DICER1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/? 1 15 c.2379T>G r.0 (NMD) p.0 - pathogenic g.95574718A>C g.95108381A>C - - DICER1_000032 1 more item PubMed: Hill 2009 - - Germline - - - - - Nancy Hamel
+/? 1 15 c.2392dup r.2392dup p.Thr798Asnfs*33 - pathogenic g.95574705dup g.95108368dup - - DICER1_000021 variant RNA reduced; mapped by linkage Submitted by Erasmus MC - - Germline - - - - - -
+?/. 1 - c.2414T>C r.(?) p.(Leu805Pro) - likely pathogenic g.95574683A>G g.95108346A>G - - DICER1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2436+4_2436+7del r.spl? p.? ACMG VUS g.95574659_95574662del g.95108322_95108325del - - DICER1_000169 BC at age 66y, brother, father, grandfather (ps) prostate cancer <60y - - rs777823741 Germline - - - - - Andreas Laner
+/., +?/? 2 16 c.2450del r.(?) p.(Pro817Leufs*15), p.(Pro817LeufsTer15) - likely pathogenic, pathogenic g.95574418del g.95108081del DICER1(NM_030621.4):c.2450delC (p.P817Lfs*15) - DICER1_000090, DICER1_000140 VKGL data sharing initiative Nederland PubMed: Rio Frio 2011; PubMed: Heravi-Moussavi 2012 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 16 c.2457C>G r.2437_2457del p.Ile813_Tyr819del - pathogenic g.95574410G>C g.95108073G>C - - DICER1_000015 c.2457C>G created a new splice site, resulting in an in-frame 21 bp deletion. PubMed: Rio Frio 2011 - - Germline - - - - - Nancy Hamel
?/. 1 - c.2461C>T r.(?) p.(Arg821Cys) - VUS g.95574406G>A - - - DICER1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 16 c.2516C>T r.2516c>u p.Ser839Phe - pathogenic g.95574351G>A g.95108014G>A - - DICER1_000017 variant transcript expressed Submitted by Erasmus MC - - Germline - - - - - Nancy Hamel
+/. 2 - c.2524del r.(?) p.(Met842CysfsTer4) - pathogenic g.95574345del g.95108008del DICER1(NM_030621.4):c.2524delA (p.M842Cfs*4), DICER1(NM_177438.2):c.2524delA (p.M842Cfs*4) - DICER1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.2651-14T>G r.(=) p.(=) - VUS g.95574112A>C g.95107775A>C DICER1(NM_001195573.1):c.2651-14T>G (p.(=)) - DICER1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2658C>T r.(?) p.(Asp886=) - likely benign g.95574091G>A g.95107754G>A DICER1(NM_030621.4):c.2658C>T (p.D886=) - DICER1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/? 2 17 c.2748del r.(?) p.(Glu917Lysfs*8), p.(Glu917LysfsTer8) - likely pathogenic, pathogenic g.95574004del g.95107667del DICER1(NM_030621.4):c.2748delA (p.E917Kfs*8) - DICER1_000091, DICER1_000138 VKGL data sharing initiative Nederland PubMed: Rio Frio 2011 - - CLASSIFICATION record, Germline - - - - - Nancy Hamel, VKGL-NL_Rotterdam
+/? 1 17i c.2805-1G>T r.2805_2987del p.Tyr936_Arg996del - pathogenic g.95572561C>A g.95106224C>A - - DICER1_000018 splice variant causes in-frame deletion exon 18; variant transcript expressed PubMed: Heravi-Moussavi 2012 - - Germline - - - - - Nancy Hamel
+/? 1 18 c.2825del r.(?) p.(Pro942Leufs*6) - pathogenic g.95572541del g.95106204del - - DICER1_000033 - PubMed: Hill 2009 - - Germline - - - - - Nancy Hamel
+/? 1 18 c.2830C>T r.(?) p.(Arg944*) - pathogenic g.95572535G>A g.95106198G>A - - DICER1_000007 - PubMed: Seki 2014 - - Germline - - - - - -
+/? 1 18 c.2863dup r.(?) p.(Thr955Asnfs*5) - pathogenic g.95572502dup g.95106165dup - - DICER1_000064 - PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/? 1 18i c.2988-2_2988-1inv r.(spl?) p.(Leu997Tyrfs*34) - pathogenic g.95572121_95572122inv g.95105784_95105785inv - - DICER1_000073 [exon 19 skip, fs] PubMed: Sahakitrungruang 2014 - - Germline - - - - - -
-/. 1 - c.2997T>G r.(?) p.(Leu999=) - benign g.95572111A>C g.95105774A>C DICER1(NM_177438.2):c.2997T>G (p.L999=) - DICER1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3 - c.3033G>A r.(?) p.(Ala1011=) - benign g.95572075C>T g.95105738C>T DICER1(NM_030621.4):c.3033G>A (p.A1011=), DICER1(NM_177438.2):c.3033G>A (p.A1011=) - DICER1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/? 1 19 c.3046del r.(?) p.(Ser1016Valfs*50) - pathogenic g.95572062del g.95105725del - - DICER1_000058 - PubMed: Schultz 2011 - - Germline - - - - - Nancy Hamel
+/. 1 - c.3072G>A r.(?) p.(Trp1024Ter) - pathogenic g.95572036C>T - - - DICER1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 19 c.3073G>T r.(?) p.(Glu1025*) - pathogenic g.95572035C>A g.95105698C>A - - DICER1_000061 - PubMed: Sabbaghian 2014, PubMed: Schultz 2011 - - Germline - - - - - Nancy Hamel
?/. 1 - c.3179G>A r.(?) p.(Arg1060His) - VUS g.95571498C>T - DICER1(NM_030621.4):c.3179G>A (p.R1060H) - DICER1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3198T>C r.(?) p.(Thr1066=) - benign g.95571479A>G g.95105142A>G DICER1(NM_177438.2):c.3198T>C (p.T1066=) - DICER1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 21 c.3270-6_4051-1280delinsG r.3270_4050del p.Tyr1091Ser*28 - pathogenic g.95567552_95570469delinsC g.95101215_95104132delinsC - - DICER1_000027 - PubMed: Pugh 2014 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3273C>G r.(?) p.(Tyr1091*) - pathogenic g.95570460G>C g.95104123G>C - - DICER1_000052 - PubMed: de Kock 2014 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3277_3280del r.3277_3280del p.Asn1093* - pathogenic g.95570455_95570458del g.95104118_95104121del - - DICER1_000034 - PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3288_3289dup r.(?) p.(Gly1097Alafs*48) - pathogenic g.95570444_95570445dup g.95104107_95104108dup - - DICER1_000074 - PubMed: Seki 2014 - - Germline - - - - - -
+/. 1 - c.3427_3428del r.(?) p.(Leu1143ArgfsTer4) - pathogenic g.95570309_95570310del g.95103972_95103973del DICER1(NM_030621.4):c.3427_3428delCT (p.L1143Rfs*4) - DICER1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3465G>A r.(?) p.(Thr1155=) - likely benign g.95570268C>T g.95103931C>T DICER1(NM_177438.2):c.3465G>A (p.T1155=) - DICER1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 21 c.3482del r.(?) p.(Pro1161Leufs*31) - pathogenic g.95570254del g.95103917del - - DICER1_000065 - PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3505del r.(?) p.(Ser1169Glnfs*23) - pathogenic g.95570230del g.95103893del - - DICER1_000075 - PubMed: de Kock 2014 - - Germline - - - - - -
+/? 1 21 c.3505dup r.(?) p.(Ser1169Phefs*8) - pathogenic g.95570230dup g.95103893dup - - DICER1_000035 - PubMed: de Kock 2014 - - Germline - - - - - Nancy Hamel
+/? 2 21 c.3535_3538del r.(?) p.(Ser1179Thrfs*12) - pathogenic g.95570199_95570202del g.95103862_95103865del - - DICER1_000036 - PubMed: Hill 2009, PubMed: Tomiak 2014 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3540C>A r.(?) p.(Tyr1180*) - pathogenic g.95570193G>T g.95103856G>T - - DICER1_000004 - PubMed: de Kock 2014 - - Germline - - - - - -
+/. 1 - c.3540C>G r.(?) p.(Tyr1180Ter) - pathogenic g.95570193G>C g.95103856G>C - - DICER1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 21 c.3579_3580del r.(?) p.(Asn1193Lysfs*41) - pathogenic g.95570154_95570155del g.95103817_95103818del - - DICER1_000037 - PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3583_3584del r.(?) p.(Asp1195Leufs*39) - pathogenic g.95570152_95570153del g.95103815_95103816del - - DICER1_000076 - PubMed: Pugh 2014 - - Germline - - - - - -
+/? 1 21 c.3589del r.(?) p.(Cys1197Alafs*6) - pathogenic g.95570147del g.95103810del - - DICER1_000053 - PubMed: Foulkes 2011; PubMed: Heravi-Moussavi 2012 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3611_3616delinsT r.(spl?) p.(Tyr1204Leufs*29) - pathogenic g.95570117_95570122delinsA g.95103780_95103785delinsA - - DICER1_000009 - PubMed: Rossing 2014 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3647C>A r.(?) p.(Ser1216*) - pathogenic g.95570086G>T g.95103749G>T - - DICER1_000057 - PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3665del r.(?) p.(Leu1222Tyrfs*17) - pathogenic g.95570070del g.95103733del - - DICER1_000077 - PubMed: Slade 2011 - - Germline - - - - - -
+/., +/? 2 21 c.3726C>A r.(?) p.(Tyr1242*), p.(Tyr1242Ter) - pathogenic g.95570007G>T g.95103670G>T DICER1(NM_030621.4):c.3726C>A (p.Y1242*) - DICER1_000078 VKGL data sharing initiative Nederland PubMed: Seki 2014 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
+/? 1 21 c.3749del r.(?) p.(Ser1250Leufs*8) - pathogenic g.95569984del g.95103647del - - DICER1_000066 - PubMed: Schultz 2011 - - Germline - - - - - Nancy Hamel
-?/. 1 - c.3767C>T r.(?) p.(Pro1256Leu) - likely benign g.95569966G>A g.95103629G>A DICER1(NM_030621.4):c.3767C>T (p.P1256L) - DICER1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 21 c.3777dup r.(?) p.(Val1260Argfs*19) - pathogenic g.95569957dup g.95103620dup - - DICER1_000062 - PubMed: Slade 2011 - - Germline - - - - - Nancy Hamel
+/? 1 21 c.3793del r.(?) p.(Thr1265Glnfs*37) - pathogenic g.95569940del g.95103603del - - DICER1_000079 - PubMed: Foulkes 2011; PubMed: Heravi-Moussavi 2012 - - Germline - - - - - -
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