Unique variants in gene SMARCB1

Information The variants shown are described using the NM_003073.3 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 38 - c.? - r.(?), r.? p.? g.? - Duplication of SMARCB1, not specified, Deletion of SMARCB1, not specified, codon 91delT, not specified, 7 more items - LARGE_000000 Refseq: not provided, Refseq reported:hg18, Refseq reported: AB017523, Refseq reported: Y17118-Y17126, 2 more items PubMed: Kordes U 2014, PubMed: Wieser R 2005, PubMed: Beddow RA 2011, PubMed: Lafay-Cousin L 2009, 18 more items - - Unknown, De novo, Germline - - - - - Julia Lopez
+/. 2 _1_9_ c.(?_-2108969)_(*1_?)del - r.0 p.0 g.(?_22020388)_(24176368_?)del - del PPIL2_SMARCB1 - SMARCB1_000035 - - - - Germline - - - - - Till Holsten
+/. 1 _1_9_ c.(?_-691475)_(*1_?)del - r.0 p.0 g.(?_23437882)_(24176368_?)del - del GNAZ_SMARCB1 - SMARCB1_000034 - - - - Germline - - - - - Till Holsten
?/. 1 - c.-4839G>T VUS r.(?) p.(=) g.24124518G>T - MMP11(NM_005940.3):c.1181G>T (p.(Gly394Val)) - MMP11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4683C>T likely benign r.(?) p.(=) g.24124674C>T - MMP11(NM_005940.3):c.1333+4C>T (p.?) - MMP11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 1 c.(?_-207)_(93+1_94-1)del - r.spl? p.? g.(2412915_24129150)_(24129450_24133942)del - Deletion of exon 1, not specified - SMARCB1_000068 Refseq reported:hg18, Refseq: not provided PubMed: Eaton KW 2011, PubMed: Smith MJ 2014 - - Unknown - - - - - Julia Lopez
?/. 1 1_2i c.(?_-207)_(232+1_233-1)del - r.? p.? g.(2412915_24129150)_(24134082_24135745)del - Deletion of exon 1-2, not specified - SMARCB1_000069 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - - - Julia Lopez
?/. 2 1_5i c.(?_-207)_(628+1_629-1)del - r.? p.? g.(2412915_24129150)_(24145610_24158956)del - Deletion of exon 1-5, not specified, Deletion of exon 1–5, not specified - SMARCB1_000070 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - - - Julia Lopez
?/. 5 _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.? g.(21451072_21976803)_(24676569_24701666)del, g.(23152039_23262944)_(24726599_24819702)del, 2 more items - Deletion of SMARCB1, (exon 1 to 9) - SMARCB1_000065 Deletion (Proximal:19,781,072-20,306,803 Distal:23,006,569-23,031,666) hg18, 3 more items PubMed: Jackson EM 2007 - - Unknown, De novo - - - - - Julia Lopez
?/. 1 - c.-22G>C VUS r.(?) p.(=) g.24129335G>C - SMARCB1(NM_003073.3):c.-22G>C - SMARCB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 _1_5i c.(?_-1)_(628+1_629-1)del - r.0? p.0? g.(?_24129356)_(24145610_24158956)del - del Ex1-Ex5 - SMARCB1_000028 - - - - Germline - - - - - Till Holsten
?/., +/. 11 _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - delSMARCB1, deletion SMARCB1, del ex1-9 - SMARCB1_000030 - - - - Germline - - - - - Till Holsten
?/. 1 1 c.20_43delinsT - r.(?) p.(Ser7Ilefs*56) g.24129376_24129399delinsT - Gonadal Mosaicism: c.20_43delinsT, not specified - SMARCB1_000071 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - - - Julia Lopez
?/., +/. 2 1 c.30del pathogenic r.(?) p.(Phe10Leufs*6) g.24129386del - SMARCB1(NM_003073.3):c.30delC (p.F10Lfs*6) - SMARCB1_000037 VKGL data sharing initiative Nederland PubMed: Rousseau G 2011 - - Unknown, CLASSIFICATION record - - - - - Julia Lopez, VKGL-NL
+?/. 1 - c.31G>A likely pathogenic r.(?) p.(Gly11Arg) g.24129387G>A - - - SMARCB1_000153 - PubMed: Han 2018 - - De novo - - - - - Joonhong Park
?/., +/. 4 1 c.34C>T pathogenic r.(?) p.(Gln12*) g.24129390C>T - SMARCB1(NM_003073.3):c.34C>T (p.Q12*) - SMARCB1_000003 Refseq reported: U04847.1, Refseq: not provided, VKGL data sharing initiative Nederland PubMed: Hulsebos TJ 2007, PubMed: Smith MJ 2012 - - Germline, Unknown, CLASSIFICATION record - - - - - Julia Lopez, VKGL-NL
?/. 1 1 c.38delA - r.(?) p.(Lys13Serfs*3) g.24129394delA - - - SMARCB1_000072 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - - - Julia Lopez
?/. 1 1 c.40C>T - r.(?) p.(Pro14Ser) g.24129396C>T - - - SMARCB1_000073 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - - - Julia Lopez
?/. 7 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported:NC_000022.9, Refseq reported: AB017523, Refseq: not provided PubMed: Hadfield KD 2008, PubMed: Boyd 2008, PubMed: Smith MJ 2012 - - Unknown - - - - - Julia Lopez
?/. 1 1 c.46A>T - r.(?) p.(Lys16*) g.24129402A>T - - - SMARCB1_000075 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - - - Julia Lopez
?/. 1 - c.84C>G ACMG: 3 r.(?) p.Ile28Met g.24129440C>G - - - SMARCB1_000152 - - - - Germline - - - - - Andreas Laner
?/. 3 1 c.86_91del - r.(?) p.(Gly29_Ser30del) g.24129442_24129447delGCTCCG, g.24129442_24129447del - - - SMARCB1_000076 Refseq reported:NC_000022.9, Refseq: not provided PubMed: Hadfield KD 2008, PubMed: Smith MJ 2014 - - Unknown - - - - - Julia Lopez
?/. 6 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 Refseq: not provided PubMed: Bacci C 2010, PubMed: Smith MJ 2012, PubMed: Rousseau G 2011 - - Germline, Unknown - - - - - Julia Lopez
?/. 2 1 c.93G>C - r.(?) p.(Glu31Asp) g.24129449G>C - - - SMARCB1_000078 Refseq: not provided, Refseq reported:hg18 PubMed: Bourdeaut F 2011, PubMed: Eaton KW 2011 - - Unknown - - - - - Julia Lopez
-/. 1 - c.93+117_93+120dup benign r.(=) p.(=) g.24129566_24129569dup - SMARCB1(NM_003073.3):c.93+116_93+117insGCGC - DERL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.93+118_93+119insTC benign r.(=) p.(=) g.24129567_24129568insTC - SMARCB1(NM_003073.3):c.93+118_93+119insTC - DERL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.93+119_93+120del benign r.(=) p.(=) g.24129568_24129569del - SMARCB1(NM_003073.3):c.93+119_93+120delGC - SMARCB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1i c.93+559A>G - r.93_94ins93+483_93+554 p.Val32fs g.24130008A>G g.23787821A>G - - SMARCB1_000014 1 more item Author submited - - De novo - - - - - Julien Masliah-Planchon
?/. 1 1i_2i c.(93+1_94-1)_(232+1_233-1)del - r.spl? p.? g.(2412945_24133942)_(24134082_24135745)del - Deletion of exon 2, not specified - SMARCB1_000079 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
+/. 1 1i_9_ c.(93+1_94-1)_(*1_?)del - r.? p.? g.(24129450_24133942)_(24176368_?)del - del ex2_ex9 - SMARCB1_000032 - - - - Germline - - - - - Till Holsten
?/. 1 2 c.98dupG - r.(?) p.(Asn34Lysfs*37) g.24133947dupG - - - SMARCB1_000080 - SMARCB1 database - - Unknown - - - - - Julia Lopez
?/. 1 2 c.105C>G - r.(?) p.(Tyr35*) g.24133954C>G - - - SMARCB1_000081 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
?/. 1 2 c.110delG - r.(?) p.(Arg37Leufs*18) g.24133959delG - - - SMARCB1_000082 Refseq: not provided PubMed: Metts 2017 - - Unknown - - - - - Julia Lopez
+/. 1 - c.110G>A pathogenic r.(?) p.(Arg37His) g.24133959G>A - SMARCB1(NM_003073.3):c.110G>A (p.R37H) - SMARCB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/. 9 2 c.118C>T pathogenic r.(?) p.(Arg40*) g.24133967C>T g.23791780C>T SMARCB1(NM_003073.3):c.118C>T (p.R40*) - SMARCB1_000021 Refseq: not provided, VKGL data sharing initiative Nederland PubMed: Modena P 2013, PubMed: Bourdeaut F 2011, PubMed: Smith MJ 2014 - - Unknown, Germline, CLASSIFICATION record - - - - - Julia Lopez, Till Holsten, VKGL-NL
?/. 1 2 c.122dup - r.(?) p.(Ser42Phefs*29) g.24133971dup - - - SMARCB1_000083 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
?/. 3 2 c.126_127insGCCA - r.(?) p.(Leu43Alafs*29) g.24133975_24133976insGCCA - - - SMARCB1_000084 Refseq: not provided PubMed: Janson K 2006 - - Unknown, Germline - - - - - Julia Lopez
?/. 1 2 c.141C>A - r.(?) p.(Tyr47*) g.24133990C>A - - - SMARCB1_000085 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - - - Julia Lopez
?/., +/. 19 2 c.143C>T pathogenic r.(?) p.(Pro48Leu) g.24133992C>T - SMARCB1(NM_003073.3):c.143C>T (p.P48L) - SMARCB1_000043 Refseq: not provided, VKGL data sharing initiative Nederland, Refseq reported: U04847.1 PubMed: Christiaans I 2011, PubMed: van den Munckhof P 2012 - - Unknown, CLASSIFICATION record, Germline - - - - - Julia Lopez, VKGL-NL
?/. 1 2 c.144dup - r.(?) p.(Ser49Leufs*22) g.24133993dup - - - SMARCB1_000086 Refseq reported: AP000349-350 PubMed: Biegel JA 2002 - - Unknown - - - - - Julia Lopez
?/. 2 2 c.152G>A - r.(?) p.(Trp51*) g.24134001G>A - - - SMARCB1_000087 Refseq reported:hg18, Refseq reported: AP000349-350 PubMed: Eaton KW 2011, PubMed: Biegel JA 2002 - - Unknown, De novo - - - - - Julia Lopez
+/. 1 - c.153G>A pathogenic r.(?) p.(Trp51*) g.24134002G>A - SMARCB1(NM_003073.3):c.153G>A (p.Trp51*) - SMARCB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 7 2 c.157C>T - r.(?) p.(Arg53*) g.24134006C>T g.23791819C>T C157T, not specified - SMARCB1_000019 Refseq: not provided PubMed: Fujisawa H 2005, PubMed: Fujisawa H 2003 - - Germline, Unknown - - - - - Till Holsten, Julia Lopez
?/. 5 2 c.158G>T - r.(?) p.(Arg53Leu) g.24134007G>T - - - SMARCB1_000088 Refseq reported: AB017523 PubMed: Boyd 2008 - - Unknown - - - - - Julia Lopez
?/. 2 2 c.170_171del - r.(?) p.(Val57Glyfs*13) g.24134019_24134020delTG - - - SMARCB1_000089 Refseq reported:hg18, Refseq reported: Y17118-Y17126 PubMed: Eaton KW 2011, PubMed: Kordes 2010 - - De novo, Unknown - - - - - Julia Lopez
?/. 1 2 c.197C>A - r.(?) p.(Ser66*) g.24134046C>A - - - SMARCB1_000092 Refseq reported: AP000349-350 PubMed: Biegel JA 2002 - - De novo - - - - - Julia Lopez
?/. 1 2 c.197C>T - r.(?) p.(Ser66Leu) g.24134046C>T - - - SMARCB1_000091 - SMARCB1 database - - Unknown - - - - - Julia Lopez
?/. 1 2 c.203_216delinsTACC - r.(?) p.(His68Leufs*14) g.24134052_24134065delinsTACC - - - SMARCB1_000093 - PubMed: Sestini R 2008 - - Unknown - - - - - Julia Lopez
?/. 3 2 c.207_208dup - r.(?) p.(Lys70Ilefs*16) g.24134056_24134057dupTA - - - SMARCB1_000094 - PubMed: Melean G 2012 - - Germline, Unknown - - - - - Julia Lopez
+/. 1 - c.218_219del pathogenic r.(?) p.(Lys73Thrfs*2) g.24134067_24134068del - SMARCB1(NM_003073.3):c.218_219delAA (p.K73Tfs*2) - SMARCB1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 2i_3 c.233-249_348del - r.spl? p.? g.24135497_24135861del - - - SMARCB1_000095 - EUHRAB - - Unknown - - - - - Julia Lopez
?/? 2 - c.233-43A>T - r.(=) p.(=) g.24135703A>T g.23793516A>T - - SMARCB1_000010 - - - - Unknown - - - - - Gijs Santen
?/. 3 2i_3 c.233-2_237del - r.spl? p.? g.24135744_24135750delagATCAC - - - SMARCB1_000096 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown, Germline - - - - - Julia Lopez
?/. 2 2i c.233-1G>A - r.spl? p.? g.24135745G>A - - - SMARCB1_000097 - PubMed: Melean G 2012 - - Germline - - - - - Julia Lopez
?/. 4 3 c.245_246insAT - r.(?) p.(Thr83*) g.24135758_24135759insAT - - - SMARCB1_000098 Refseq: not provided PubMed: Carter JM 2012 - - Germline, De novo, Unknown - - - - - Julia Lopez
-?/. 1 - c.310G>A likely benign r.(?) p.(Asp104Asn) g.24135823G>A - SMARCB1(NM_001007468.1):c.283G>A (p.(Asp95Asn), p.(Asp104Asn)) - DERL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3 c.316A>T - r.(?) p.(Lys106*) g.24135829A>T - - - SMARCB1_000099 Refseq reported: Y17118-Y17126 PubMed: Kordes 2010 - - Unknown - - - - - Julia Lopez
?/. 1 3 c.321C>G - r.(?) p.(Tyr107*) g.24135834C>G - - - SMARCB1_000100 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - - - Julia Lopez
?/. 1 3 c.351dupC - r.(?) p.(Thr118Hisfs*52) g.24135864dupC - - - SMARCB1_000101 - SMARCB1 database - - Unknown - - - - - Julia Lopez
?/. 4 3i c.362+1G>A - r.spl? p.? g.24135876G>A - - - SMARCB1_000102 Refseq reported: U04847.1, Refseq reported: AB017523 PubMed: Hulsebos TJ 2014, PubMed: Boyd 2008 - - Unknown, Germline - - - - - Julia Lopez
-/. 1 - c.362+7C>T benign r.(=) p.(=) g.24135882C>T - SMARCB1(NM_003073.3):c.362+7C>T - SMARCB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.363-9T>G pathogenic r.(=) p.(=) g.24143122T>G - SMARCB1(NM_003073.3):c.363-9T>G - SMARCB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.363-2A>G pathogenic r.spl? p.? g.24143129A>G - SMARCB1(NM_003073.3):c.363-2A>G - SMARCB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 2 3i_5i c.(362+1_363-1)_(628+1_629-1)del - r.?, r.spl? p.? g.(24135876_24143130)_(24145610_24158956)del, g.(2413587_24143130)_(24145610_24158956)del - del Ex4_Ex5, Deletion of exon 4-5, not specified - SMARCB1_000033 Refseq: not provided PubMed: Bourdeaut F 2011 - - Germline, Unknown - - - - - Till Holsten, Julia Lopez
?/. 1 3i_5i c.(362+1_363-1)_(628+1_629-1)del - r.spl? p.? g.(2413587_24143130)_(24145610_24158956)del - Deletion exon 4–5, not specified - SMARCB1_000033 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - - - Julia Lopez
?/. 2 3i_5i c.(362+1_363-1)_(628+1_629-1)dup - r.spl? p.? g.(2413587_24143130)_(24145610_24158956)dup - Dup Exon 4-5, not specified - SMARCB1_000103 Refseq reported: AB017523 PubMed: Bruggers CS 2011 - - Unknown - - - - - Julia Lopez
?/. 1 3i_6i c.(362+1_363-1)_(795+1_796-1)del - r.spl? p.? g.(2413587_24143130)_(24159124_24167411)del - Deletion of exon 4–6, not specified - SMARCB1_000104 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - - - Julia Lopez
?/. 2 4 c.364G>T - r.(?) p.(Glu122*) g.24143132G>T - - - SMARCB1_000105 Refseq reported: AB017523 PubMed: Boyd 2008 - - Unknown - - - - - Julia Lopez
?/. 1 4 c.387C>T - r.(=) p.(=) g.24143155C>T - - - SMARCB1_000106 Refseq reported: AP000349-350 PubMed: Biegel JA 2002 - - De novo - - - - - Julia Lopez
?/. 2 4 c.392G>A - r.(?) p.(Trp131*) g.24143160G>A - - - SMARCB1_000107 Refseq: not provided PubMed: Wu J 2015 - - Unknown - - - - - Julia Lopez
?/. 1 4 c.421dup - r.(?) p.(His141Profs*29) g.24143189dupC - - - SMARCB1_000108 Refseq reported: Y17118-Y17126 PubMed: Kordes 2010 - - Unknown - - - - - Julia Lopez
?/. 2 4 c.430del - r.(?) p.(Ala144Profs*32) g.24143198delG - - - SMARCB1_000109 Refseq reported: AB017523, Refseq: not provided PubMed: Sévenet N 1999 - - Unknown - - - - - Julia Lopez
-?/. 1 - c.438A>G likely benign r.(?) p.(=) g.24143206A>G - SMARCB1(NM_003073.3):c.438A>G (p.P146=) - SMARCB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4 c.442_449del - r.(?) p.(Ser148Hisfs*19) g.24143210_24143217del - - - SMARCB1_000110 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
?/., +/. 14 4 c.472C>T pathogenic r.(?) p.(Arg158*) g.24143240C>T g.23801053C>T SMARCB1(NM_003073.3):c.472C>T (p.R158*) - SMARCB1_000015 Refseq: not provided, Refseq reported: AP000349-350, Refseq reported:hg18, 2 more items PubMed: Lee HY 2002, PubMed: Biegel JA 1999, PubMed: Eaton KW 2011, PubMed: Sévenet N 1999, 1 more item - - De novo, Germline, Unknown, CLASSIFICATION record - - - - - Julia Lopez, Till Holsten, VKGL-NL
?/. 1 4 c.479del - r.(?) p.(Lys160Argfs*16) g.24143247delA - - - SMARCB1_000111 - SMARCB1 database - - Unknown - - - - - Julia Lopez
?/. 1 4 c.496del - r.(?) p.(Leu166Phefs*10) g.24143264del - 496del, not specified - SMARCB1_000112 Refseq: not provided PubMed: Fujisawa H 2005 - - Unknown - - - - - Julia Lopez
?/., +/. 9 4i c.500+1G>A pathogenic r.spl? p.? g.24143269G>A - SMARCB1(NM_003073.3):c.500+1G>A (p.?) - SMARCB1_000113 Refseq reported: U04847, Refseq reported: AB017523, VKGL data sharing initiative Nederland PubMed: Ammerlaan AC 2008, PubMed: Boyd 2008 - - Germline, Unknown, CLASSIFICATION record - - - - - Julia Lopez, VKGL-NL
-?/. 1 - c.500+7A>G likely benign r.(=) p.(=) g.24143275A>G - SMARCB1(NM_003073.3):c.500+7A>G - SMARCB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.500+24C>G likely benign r.(=) p.(=) g.24143292C>G - SMARCB1(NM_003073.3):c.500+24C>G - SMARCB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4i c.501-2A>G - r.spl? p.? g.24145480A>G - - - SMARCB1_000114 Refseq reported: Y17118-Y17126 PubMed: Kordes 2010 - - Unknown - - - - - Julia Lopez
+/. 1 - c.550G>T pathogenic r.(?) p.(Glu184*) g.24145531G>T - SMARCB1(NM_003073.3):c.550G>T (p.Glu184*) - DERL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 5 c.564del - r.(?) p.(Ile189Serfs*20) g.24145545del - - - SMARCB1_000115 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
?/. 1 5 c.578_585dup - r.(?) p.(Asp196Trpfs*16) g.24145559_24145566dup - - - SMARCB1_000067 - PubMed: Swensen JJ 2009 - - Somatic - - - - - Julia Lopez
-?/. 1 - c.582G>A likely benign r.(?) p.(=) g.24145563G>A - SMARCB1(NM_003073.3):c.582G>A (p.=) - SMARCB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 5 c.591del - r.(?) p.(Gln198Argfs*11) g.24145572del, g.24145572delG - - - SMARCB1_000064 Refseq reported: AB017523, Refseq: not provided PubMed: Sévenet N 1999 - - Unknown - - - - - Julia Lopez
?/. 2 5 c.592C>T - r.(?) p.(Gln198*) g.24145573C>T - - - SMARCB1_000116 Refseq reported:hg18, Refseq reported: AP000349-350 PubMed: Eaton KW 2011, PubMed: Biegel JA 2002 - - Germline, De novo - - - - - Julia Lopez
?/. 6 5 c.601C>T - r.(?) p.(Arg201*) g.24145582C>T - - - SMARCB1_000063 Refseq reported:hg18, Refseq reported: Y17118-Y17126, Refseq: not provided PubMed: Eaton KW 2011, PubMed: Kordes 2010, PubMed: Sévenet N 1999, PubMed: Sévenet N 1999, 2 more items - - De novo, Unknown - - - - - Julia Lopez
?/. 1 5 c.617G>A - r.(?) p.(Trp206*) g.24145598G>A - - - SMARCB1_000117 Refseq reported: AP000349-350 PubMed: Biegel JA 2002 - - Unknown - - - - - Julia Lopez
?/. 3 5i c.628+1G>A - r.spl? p.? g.24145610G>A - - - SMARCB1_000118 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
+?/., -/., -?/. 4 5i c.628+13C>T benign, likely benign r.(?), r.(=) p.(=) g.24145622C>T g.23803435C>T SMARCB1(NM_003073.3):c.628+13C>T - SMARCB1_000027 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Till Holsten, VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 6 5i_6i c.629-361_795+2103dup - r.? p.? g.24158596_24161226dup - hg18 (chr22:g.22488596_22491226dup2631) - SMARCB1_000119 - PubMed: Swensen JJ 2009 - - Germline - - - - - Julia Lopez
-/. 1 - c.629-62A>G - r.(=) p.(=) g.24158895A>G g.23816708A>G - - SMARCB1_000006 - - - rs9608192 Germline - frequency up to15% - - - Andreas Laner
-/. 1 - c.629-58C>A - r.(=) p.(=) g.24158899C>A g.23816712C>A - - SMARCB1_000007 - - - rs2070457 Germline - - - - - Andreas Laner
+?/., ?/. 3 5i c.629-2A>G - r.spl, r.spl? p.? g.24158955A>G g.23816768A>G IVS5-2A>G - SMARCB1_000020 - - - - Germline - - - - - Till Holsten, Julia Lopez
?/. 1 5i_6i c.(628+1_629-1)_(795+1_796-1)del - r.spl? p.? g.(2414561_24158956)_(24159124_24167411)del - Deletion of exon 6, not specified - SMARCB1_000031 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - - - Julia Lopez
+/. 2 5i_6i c.(628+1_629-1)_(795+1_796-1)del - r.? p.? g.(24145610_24158956)_(24167411_24159124)del - del Exon6 - SMARCB1_000031 - - - - Germline - - - - - Till Holsten
?/. 1 5i_6i c.(628+1_629-1)_(795+1_796-1)del - r.spl? p.? g.(2414561_24158956)_(24159124_24167411)del - Deletion of exon 6 (mosaic), not specified - SMARCB1_000031 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - - - Julia Lopez
?/. 1 5i_6i c.(628+1_629-1)_(795+1_796-1)dup - r.spl? p.? g.(2414561_24158956)_(24159124_24167411)dup - Duplication of exon 6, not specified - SMARCB1_000120 Refseq: not provided PubMed: Ibrahim GM 2011 - - Germline - - - - - Julia Lopez
?/. 3 5i_6i c.(628+1_629-1)_(795+1_796-1)dup - r.spl? p.? g.(2414561_24158956)_(24159124_24167411)dup - Duplication of Exon 6, not specified - SMARCB1_000120 Refseq reported:hg19 PubMed: Dunham C 2015, PubMed: Johann PD 2016, {PMID:Savard ML 1989, PMID 2699663} - - Germline - - - - - Julia Lopez
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