All variants in the DICER1 gene

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

231 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.20A>G r.(?) p.(Gln7Arg) - likely benign g.95599776T>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_Nijmegen
+/? 4 c.328_338dup r.(?) p.(Gln249Serfs*23) - pathogenic g.95597946_95597956dup g.95131609_95131619dup - - DICER1_000068 - PubMed: Pugh 2014 - - Germline - - - 0 - -
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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
+/? 5 c.559C>T r.(?) p.(Arg187*) - pathogenic g.95596409G>A g.95130072G>A - - DICER1_000050 - PubMed: Brenneman 2015 - - Germline - - - 0 - Nancy Hamel
+/. - c.734+1G>C r.spl? p.? - pathogenic g.95595808C>G g.95129471C>G - - DICER1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 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 - - - 0 - Nancy Hamel
+/? 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 - - - 0 - Nancy Hamel
+/? 8 c.912_919dup r.(?) p.(Arg307Glnfs*8) - pathogenic g.95590992_95590999dup g.95124655_95124662dup - - DICER1_000025 - PubMed: Sabbaghian 2012 - - Germline - - - 0 - Nancy Hamel
+/? 8 c.1128_1132del r.(?) p.(Lys376Asnfs*11) - pathogenic g.95590780_95590784del g.95124443_95124447del - - DICER1_000026 - Submitted by Erasmus MC - - Germline - - - 0 - Nancy Hamel
+?/? 8 c.1144G>T r.(?) p.(Glu382*) - likely pathogenic g.95590765C>A g.95124428C>A - - DICER1_000084 - PubMed: Slade 2011 - - Germline - - - 0 - Nancy Hamel
+/. - c.1144G>T r.(?) p.(Glu382Ter) - pathogenic g.95590765C>A g.95124428C>A DICER1(NM_030621.4):c.1144G>T (p.E382*) - DICER1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 8 c.1153del r.(?) p.(Arg385Alafs*73) - pathogenic g.95590756del g.95124419del - - DICER1_000069 - PubMed: Brenneman 2015 - - Germline - - - 0 - -
+/? 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 - - - 0 - Nancy Hamel
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/? 8 c.1196_1197dup r.(?) p.(Trp400Serfs*59) - pathogenic g.95590713_95590714dup g.95124376_95124377dup - - DICER1_000070 - PubMed: de Kock 2015 - - Germline - - - 0 - -
+/? 8 c.1196_1197dup r.(?) p.(Trp400Serfs*59) - pathogenic g.95590713_95590714dup g.95124376_95124377dup - - DICER1_000070 - Submitted by Erasmus MC - - Germline - - - 0 - Nancy Hamel
+?/? 8 c.1198dup r.(?) p.(Trp400Leufs*3) - likely pathogenic g.95590711dup g.95124374dup - - DICER1_000085 - PubMed: de Kock 2014 - - Germline - - - 0 - Nancy Hamel
+/. - c.1198dup r.(?) p.(Trp400LeufsTer3) - pathogenic g.95590711dup g.95124374dup DICER1(NM_030621.4):c.1198dupT (p.W400Lfs*3) - DICER1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 8 c.1284del r.(?) p.(K429Afs*47) - pathogenic g.95590625del g.95124288del - - DICER1_000028 - PubMed: Foulkes 2011; PubMed: Wu 2013 - - Germline - - - 0 - Nancy Hamel
+/? 8 c.1306dup r.(?) p.(Ser436Phefs*41) - pathogenic g.95590604dup g.95124267dup - - DICER1_000013 - PubMed: Schultz 2011 - - Germline - - - 0 - Nancy Hamel
+/? 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 - - - 0 - Nancy Hamel
-/. 8i c.1377-4T>G r.(?) p.(=) - benign g.95584095A>C g.95117758A>C - - DICER1_000167 - - - - Germline - - - 0 - Maximiliano Zeballos
-?/. - c.1377-4T>G r.spl? p.? - likely benign g.95584095A>C g.95117758A>C DICER1(NM_030621.4):c.1377-4T>G - DICER1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1377-4T>G r.(?) p.(?) ACMG VUS g.95584095A>C g.95117758A>C - - DICER1_000167 - - - rs192490028 Germline - - - 0 - Andreas Laner
+/? 9 c.1383_1386del r.(?) p.(Ile461Metfs*18) - pathogenic g.95584082_95584085del g.95117745_95117748del - - DICER1_000063 - PubMed: de Kock 2014 - - Germline - - - 0 - Nancy Hamel
+/? 9 c.1498A>T r.(?) p.(Lys500*) - pathogenic g.95583970T>A g.95117633T>A - - DICER1_000029 - Submitted by Erasmus MC - - Germline - - - 0 - Nancy Hamel
+?/? 9 c.1498A>T r.(?) p.(Lys500*) - likely pathogenic g.95583970T>A g.95117633T>A - - DICER1_000029 - PubMed: Hill 2009 - - Germline - - - 0 - Nancy Hamel
+/. - c.1498A>T r.(?) p.(Lys500Ter) - pathogenic g.95583970T>A g.95117633T>A DICER1(NM_030621.4):c.1498A>T (p.K500*) - DICER1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 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 - - - 0 - -
?/? 9 c.1509G>A r.(spl?) p.(?) - VUS g.95583959C>T g.95117622C>T - - DICER1_000086 Predicted effect on splicing by in silico modeling PubMed: de Kock 2014 - - Germline - - - 0 - Nancy Hamel
?/. - c.1509G>A r.(?) p.(Glu503=) - VUS g.95583959C>T g.95117622C>T DICER1(NM_030621.4):c.1509G>A (p.E503=) - DICER1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
+/? 10 c.1525C>T r.(?) p.(Arg509*) - pathogenic g.95583017G>A g.95116680G>A - - DICER1_000030 - PubMed: Oost 2015 - - Germline - - - 0 - Nancy Hamel
+/. - c.1525C>T r.(?) p.(Arg509Ter) - pathogenic g.95583017G>A g.95116680G>A - - DICER1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 10 c.1532_1533del r.(?) p.(His511Argfs*16) - pathogenic g.95583009_95583010del g.95116672_95116673del - - DICER1_000108 - PubMed: Hill 2009 - - Germline - - - 0 - Nancy Hamel
+/? 10 c.1630C>T r.(?) p.(Arg544*) - pathogenic g.95582912G>A g.95116575G>A - - DICER1_000006 - PubMed: Hill 2009 - - Germline - - - 0 - -
+/? 10 c.1684_1685del r.(?) p.(Met562Valfs*11) - pathogenic g.95582857_95582858del g.95116520_95116521del - - DICER1_000023 - PubMed: Slade 2011 - - Germline - - - 0 - -
+/? 10 c.1716del r.(?) p.(Phe572Leufs*15) - pathogenic g.95582829del g.95116492del - - DICER1_000071 - PubMed: Brenneman 2015 - - Germline - - - 0 - -
+/? 10 c.1716del r.(?) p.(Phe572Leufs*15) - pathogenic g.95582829del g.95116492del - - DICER1_000101 Somatic mosaicism was shown for this mutation PubMed: Murray 2014 - - De novo - - - 0 - Nancy Hamel
-?/. - c.1800C>T r.(?) p.(Asp600=) - likely benign g.95582111G>A - - - DICER1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 11 c.1801_1805dup r.(?) p.(Asp602Glufs*17) - pathogenic g.95582106_95582110dup g.95115769_95115773dup - - DICER1_000049 - PubMed: Hill 2009 - - Germline - - - 0 - Nancy Hamel
+/. - c.1907+1G>A r.spl? p.? - pathogenic g.95582003C>T - - - DICER1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 12 c.1910dup r.(?) p.(Tyr637*) - pathogenic g.95579559dup g.95113222dup - - DICER1_000008 - PubMed: Hill 2009 - - Germline - - - 0 - -
-/. - 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
-/. - 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_VUmc
+/? 12 c.1966C>T r.(?) p.(Arg656*) - pathogenic g.95579503G>A g.95113166G>A - - DICER1_000002 - PubMed: Foulkes 2011 - - Germline - - - 0 - -
+/? 12 c.1966C>T r.(?) p.(Arg656*) - pathogenic g.95579503G>A g.95113166G>A - - DICER1_000002 - PubMed: Slade 2011 - - Germline - - - 0 - Nancy Hamel
+/? 12 c.1966C>T r.(?) p.(Arg656*) - pathogenic g.95579503G>A g.95113166G>A - - DICER1_000002 - PubMed: Slade 2011 - - Germline - - - 0 - -
+/? 12 c.1966C>T r.(?) p.(Arg656*) - pathogenic g.95579503G>A g.95113166G>A - - DICER1_000002 - PubMed: de Kock 2014 - - Germline - - - 0 - -
+/? 12 c.2026C>T r.(?) p.(Arg676*) - pathogenic g.95579443G>A g.95113106G>A - - DICER1_000031 - PubMed: de Kock 2014 - - Germline - - - 0 - Nancy Hamel
+/? 12 c.2026C>T r.(?) p.(Arg676*) - pathogenic g.95579443G>A g.95113106G>A - - DICER1_000031 - PubMed: Pugh 2014 - - Germline - - - 0 - Nancy Hamel
+/. - 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 - - rs878855246 Germline - - - 0 - Andreas Laner
+/? 12i c.2040+1G>T r.(spl?) p.(Tyr637Valfs*4) - pathogenic g.95579428C>A g.95113091C>A - - DICER1_000051 [exon 12 skip, fs] PubMed: Slade 2011 - - Germline - - - 0 - Nancy Hamel
+/? 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 - - Germline - - - 0 - -
?/. - c.2040+5G>A r.(?) p.(?) - VUS g.95579424C>T - - - DICER1_000181 - - - - Unknown - - - 0 - Gunnar Schmidt
?/. - 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 - - - 0 - VKGL-NL_Leiden
+/? 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 - - - 0 - Nancy Hamel
-?/. - 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 - - - 0 - VKGL-NL_VUmc
+?/? 14 c.2233C>T r.(?) p.(Arg745*) - likely pathogenic g.95577677G>A g.95111340G>A - - DICER1_000087 - PubMed: Brenneman 2015 - - Germline - - - 0 - Nancy Hamel
+/. - c.2233C>T r.(?) p.(Arg745Ter) - pathogenic g.95577677G>A g.95111340G>A DICER1(NM_030621.4):c.2233C>T (p.R745*) - DICER1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 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 - - - 0 - Nancy Hamel
+/? 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 - - - 0 - -
+/? 14 c.2246_2247insACTA r.(?) p.(Tyr749*) - pathogenic g.95577666_95577667insTTAG g.95111329_95111330insTTAG - - DICER1_000060 - PubMed: Hill 2009 - - Germline - - - 0 - Nancy Hamel
+/? 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 - - - 0 - -
+?/? 14i c.2256+1G>C r.(spl?) p.(?) - likely pathogenic g.95577653C>G g.95111316C>G - - DICER1_000088 Putative splice defect Submitted by Erasmus MC - - Germline - - - 0 - Nancy Hamel
+/. - c.2256+1G>C r.spl? p.? - pathogenic g.95577653C>G g.95111316C>G DICER1(NM_030621.4):c.2256+1G>C - DICER1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 14i c.2257-7A>G r.(spl?) p.(?) - VUS g.95574847T>C g.95108510T>C - - DICER1_000089 Predicted effect on splicing by in silico modeling PubMed: Slade 2011 - - Germline - - - 0 - Nancy Hamel
?/. - c.2257-7A>G r.(=) p.(=) - VUS g.95574847T>C g.95108510T>C DICER1(NM_030621.4):c.2257-7A>G - DICER1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 15 c.2268_2271del r.(?) p.(Cys756*) - pathogenic g.95574828_95574831del g.95108491_95108494del - - DICER1_000072 - PubMed: de Kock 2014 - - Germline - - - 0 - -
-?/. - c.2370G>A r.(?) p.(Arg790=) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.2370G>A r.(?) p.(Arg790=) - benign g.95574727C>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_VUmc
+/? 15 c.2379T>G r.0 (NMD) p.0 - pathogenic g.95574718A>C g.95108381A>C - - DICER1_000032 Nonsense-mediated decay of the mutated RNA was confirmed. No mutant RNA is detected in untreated cells. PubMed: Hill 2009 - - Germline - - - 0 - Nancy Hamel
+/? 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 - - - 0 - -
+?/. - c.2414T>C r.(?) p.(Leu805Pro) - likely pathogenic g.95574683A>G g.95108346A>G - - DICER1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - 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 - - - 0 - Andreas Laner
+?/? 16 c.2450del r.(?) p.(Pro817Leufs*15) - likely pathogenic g.95574418del g.95108081del - - DICER1_000090 - PubMed: Rio Frio 2011; PubMed: Heravi-Moussavi 2012 - - Germline - - - 0 - Nancy Hamel
+/. - c.2450del r.(?) p.(Pro817LeufsTer15) - pathogenic g.95574418del g.95108081del DICER1(NM_030621.4):c.2450delC (p.P817Lfs*15) - DICER1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 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 - - - 0 - Nancy Hamel
?/. - c.2461C>T r.(?) p.(Arg821Cys) - VUS g.95574406G>A - - - DICER1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 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 - - - 0 - Nancy Hamel
+/. - 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
+/. - 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_VUmc
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/? 17 c.2748del r.(?) p.(Glu917Lysfs*8) - likely pathogenic g.95574004del g.95107667del - - DICER1_000091 - PubMed: Rio Frio 2011 - - Germline - - - 0 - Nancy Hamel
+/. - c.2748del r.(?) p.(Glu917LysfsTer8) - pathogenic g.95574004del g.95107667del DICER1(NM_030621.4):c.2748delA (p.E917Kfs*8) - DICER1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 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 - - - 0 - Nancy Hamel
+/? 18 c.2825del r.(?) p.(Pro942Leufs*6) - pathogenic g.95572541del g.95106204del - - DICER1_000033 - PubMed: Hill 2009 - - Germline - - - 0 - Nancy Hamel
+/? 18 c.2830C>T r.(?) p.(Arg944*) - pathogenic g.95572535G>A g.95106198G>A - - DICER1_000007 - PubMed: Seki 2014 - - Germline - - - 0 - -
+/? 18 c.2863dup r.(?) p.(Thr955Asnfs*5) - pathogenic g.95572502dup g.95106165dup - - DICER1_000064 - PubMed: Slade 2011 - - Germline - - - 0 - Nancy Hamel
+/? 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 - - - 0 - -
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_VUmc
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