Unique variants in the SMN1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000344.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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     
+/. 17 _1_9, _1_9_ c.-163_*577{0} r.0 p.0 ACMG pathogenic, pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1, NM_000344.3: SMN1 0 copies, NM_000344.3:SMN1 0 copies NM_017411.3:SMN2 3 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022, PubMed: Sharifi 2021 - - Germline - 10/432 families SMA, 143/432 families SMA, 15/432 families SMA, 2/432 families SMA, 3/432 families SMA, 4 more items - - - Johan den Dunnen
+/+ 72 _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 1 copy SMN2, 2 copies SMN2 gene, 3 copies SMN2, 3 copies SMN2 gene, SMN2 1 copy, SMN2 2 copies Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000, PubMed: Bai 2014, 26 more items - - Germline, Unknown yes - - - - Johan den Dunnen, Rosário dos Santos, Hisahide Nishio
+/. 2 1 c.-14C>T r.(?) p.(=) - pathogenic g.70220917C>T g.70925090C>T - - SMN1_000038 - PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.-7_9del r.-7_9del p.0 - pathogenic g.70220924_70220939del g.70925097_70925112del - - SMN1_000059 - - - - Germline - - - - - Fang Song
+/. 1 7i_9_ c.(834+1_835-1)_*577{0} r.? p.? - pathogenic (recessive) g.(70242004_70247767)_(70248839_?)del g.(70946177_70951940)_(70953012_?)del del ex7-8 - SMN1_000092 - PubMed: Bai 2022 - - Germline - - - - - Johan den Dunnen
+/. 3 _1_9_ c.-163_*577{0} r.0 p.0 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 19/432 families SMA, 5/432 families SMA, 7/432 families SMA - - - Johan den Dunnen
+/. 2 - c.? r.? p.? - pathogenic (recessive) g.? - del ex7 - RAD50_000000 - PubMed: Reiner 2022 - - Germline - 2/73,755 controls - - - Johan den Dunnen
+/., ?/. 3 1 c.5C>G r.(?), r.5c>g p.(Ala2Gly), p.Ala2Gly - pathogenic, VUS g.70220935C>G g.70925108C>G 38C>G - SMN1_000001 founder mutation likely, normal level SMN1 RNA PubMed: Bai 2014, PubMed: Parsons 1998, OMIM:var0006 - - Germline yes - - - - Johan den Dunnen
+/. 2 1 c.5C>T r.5c>u p.Ala2Val - pathogenic g.70220935C>T g.70925108C>T - - SMN1_000053 - PubMed: Yamamoto 2013 - - Germline, Unknown yes - - - - Hisahide Nishio
+/. 5 1 c.22dup r.(?), r.22dup p.(Ser8Lysfs*23), p.Ser8Lysfs*23 - pathogenic g.70220952dup g.70925125dup 22_23insA - SMN1_000002 significantly reduced level SMN1 RNA PubMed: Bai 2014, PubMed: Tsai 2001 - - Germline yes - - - - Johan den Dunnen
+/. 1 1 c.40G>T r.40g>u p.Glu14* - pathogenic g.70220970G>T g.70925143G>T - - SMN1_000051 not found in 300 control chromosomes PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/. 2 1 c.43C>T r.(?), r.43c>u p.(Gln15*), p.Gln15* - pathogenic g.70220973C>T g.70925146C>T 78C>T - SMN1_000003 significantly reduced level SMN1 RNA PubMed: Bai 2014, PubMed: Wirth 1999 - - Germline yes - - - - Johan den Dunnen
+/. 1 1 c.48_55dup r.48_55dup p.Val19Glyfs*24 - pathogenic g.70220978_70220985dup g.70925151_70925158dup 48_55dupGGATTCCG - SMN1_000068 - PubMed: Kirwin 2013 - - Germline yes - - - - Johan den Dunnen
+/. 1 1 c.56del r.56del p.Val19Glyfs*21 - pathogenic g.70220986del g.70925159del - - SMN1_000052 significantly reduced level SMN1 RNA PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/. 1 1i c.81+1dupG r.spl? p.(?) - pathogenic g.70221012dupG g.70925185dupG Q27insG - SMN1_000004 - PubMed: Skordis 2001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.84C>T r.(?) p.(Ser28=) - VUS g.70234668C>T g.70938841C>T SMN1(NM_000344.3):c.84C>T (p.S28=) - SMN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 2 c.88G>A r.(?) p.(Asp30Asn) - pathogenic g.70234672G>A g.70938845G>A - - SMN1_000039 - PubMed: Sun 2005, OMIM:var0012 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.91dup r.(?) p.(Ser31Phefs*2) - pathogenic g.70234675dup g.70938848dup 124insT - SMN1_000005 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.131A>T r.(?) p.(Asp44Val) - pathogenic g.70234715A>T g.70938888A>T - - SMN1_000040 - PubMed: Sun 2005, OMIM:var0013 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.208_209insGTGT r.(?) p.(Pro70Argfs*3) - pathogenic g.70237270_70237271insGTGT g.70941443_70941444insGTGT 241-242ins4 - SMN1_000006 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.274_284del r.(?) p.(Trp92Glyfs*22) - pathogenic g.70238185_70238195del g.70942358_70942368del g.348_358del - SMN1_000085 - - - - Germline - - - - - Miloš Brkušanin
+/. 2 4 c.275G>C r.275g>c p.Trp92Ser - pathogenic g.70238186G>C g.70942359G>C - - SMN1_000054 - PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/. 2 4 c.283G>C r.(?) p.(Gly95Arg) ACMG pathogenic, pathogenic (recessive) g.70238194G>C g.70942367G>C - - SMN1_000041 - PubMed: Sharifi 2021, PubMed: Sun 2005, OMIM:var0014 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.305G>A r.274_474del p.Trp92_Glu158del - pathogenic g.70238216G>A g.70942389G>A Trp102X - SMN1_000007 - PubMed: Sossi 2001, OMIM:var0010 - - Germline - - - - - Johan den Dunnen
+?/. 1 4 c.326A>G r.(?) p.(Tyr109Cys) - likely pathogenic g.70238237A>G g.70942410A>G - - SMN1_000060 - - - - Germline - - - - - Fang Song
+/. 1 4 c.332C>G r.(?) p.(Ala111Gly) - pathogenic g.70238243C>G g.70942416C>G - - SMN1_000042 - PubMed: Sun 2005, OMIM:var0015 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.346A>T r.(?) p.(Ile116Phe) - pathogenic g.70238257A>T g.70942430A>T - - SMN1_000044 - PubMed: Cusco 2004, OMIM:var0017 - - Germline - - - - - Johan den Dunnen
+/. 5 4 c.399_402del r.(?) p.(Glu134Serfs*14) - pathogenic g.70238310_70238313del g.70942483_70942486del 430del4 - SMN1_000008 - PubMed: Bussaglia 1995, PubMed: Cusco 2003, OMIM:var0011, PubMed: Martin 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.400G>A r.(?) p.(Glu134Lys) - pathogenic g.70238311G>A g.70942484G>A 433G>A - SMN1_000009 - Clermont 1997, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.406C>G r.(?) p.(Gln136Glu) - pathogenic g.70238317C>G g.70942490C>G - - SMN1_000045 - PubMed: Cusco 2004, OMIM:var0018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.421C>T r.(?) p.(Leu141=) - VUS g.70238332C>T g.70942505C>T SMN1(NM_000344.3):c.421C>T (p.L141=) - SMN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 4 c.439_443del r.(?), r.439_443del p.(Glu147Serfs*2), p.Glu147Serfs*2 - pathogenic g.70238350_70238354del g.70942523_70942527del 425del5, 425del5 and 472del5 - SMN1_000010 - PubMed: Brahe 1996, PubMed: Sossi 2001, OMIM:var0009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.462A>G r.(?) p.(Gln154=) - benign g.70238373A>G g.70942546A>G SMN1(NM_000344.3):c.462A>G (p.Q154=) - SMN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 5 c.475-2A>T r.spl p.? - likely pathogenic g.70238543A>T g.70942716A>T - - SMN1_000079 - - - - Germline/De novo (untested) yes - - - - Kyriaki Kekou
+?/. 1 5 c.489_493del r.(?) p.(Gln164Phefs*4) - likely pathogenic g.70238559_70238563del g.70942732_70942736del 489_493delCCAAG - SMN1_000076 - - - - De novo ? - - - - Kyriaki Kekou
+/. 1 5 c.510_511del r.(?) p.(fs*) - pathogenic g.70238580_70238581del g.70942753_70942754del 542delGT - SMN1_000011 - PubMed: Parsons 1998, PubMed: Parsons 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.524del r.(?) p.(Ser175Phefs*38) - pathogenic g.70238594del g.70942767del - - SMN1_000046 - - - - Germline - - - - - Rosário dos Santos
+/. 1 - c.536_540del r.(?) p.(Lys179Argfs*2) - pathogenic g.70238606_70238610del g.70942779_70942783del - - SMN1_000083 localisation of fs-mutation (in SMN1 or SMN2) not analysed yet - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/. 1 - c.542A>G r.(?) p.(Asp181Gly) - pathogenic g.70238612A>G g.70942785A>G SMN1(NM_000344.3):c.542A>G (p.D181G) - SMN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 2 - c.549del r.(?) p.(Lys184Serfs*29) ACMG likely pathogenic (recessive), pathogenic (recessive) g.70238619del g.70942792del c.549delC - SMN1_000088 ACMG: PVS1, PM2_SUP PubMed: Sharifi 2021 VCV001699219.1 - Germline yes - - - - Johan den Dunnen, Andreas Laner
+?/. 1 5 c.551dup r.(551dup) p.(Pro185Alafs*71) - likely pathogenic g.70238621dup g.70942794dup - - SMN1_000080 - - - - Germline - - - - - Kyriaki Kekou
+/. 1 5 c.558del r.(?) p.(Lys186Asnfs*27) - pathogenic g.70238628del g.70942801del 591delA - SMN1_000012 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.585dup r.(?) p.(Pro196Serfs*60) - pathogenic g.70238655dup g.70942828dup 618insT - SMN1_000013 - Clermont 1997, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 5i_7i c.628-?_834+?del r.(?) p.(?) - pathogenic g.70240485_70242003del g.70944658_70946176del IVS4_IVS6del - SMN1_000014 1 more item PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+?/. 1 7 c.637_658del r.(637_658del) p.(Lys213Hisfs*23) - likely pathogenic g.70240494_70240515del g.70944667_70944688del - - SMN1_000077 - - - - Germline/De novo (untested) - - - - - Kyriaki Kekou
?/. 1 6 c.662C>T r.662c>u p.Pro221Leu - VUS g.70240519C>T g.70944692C>T - - SMN1_000069 - PubMed: Kirwin 2013 - - Germline yes - - - - Johan den Dunnen
+/. 2 5, 6 c.683T>A r.(?), r.683u>a p.(Leu228*), p.Leu228* - pathogenic g.70240540T>A g.70944713T>A - - SMN1_000015 significantly reduced level SMN1 RNA PubMed: Bai 2014, PubMed: Tsai 2001 - - Germline yes - - - - Johan den Dunnen
+?/. 2 5 c.689C>T r.689c>u p.Ser230Leu - likely pathogenic g.70240546C>T g.70944719C>T - - SMN1_000058 - - - - Germline - - - - - Fang Song
+/. 2 7i_9i c.(723+1_724-1)_(*3+1_*4-1)del r.(del), r.? p.? - pathogenic, pathogenic (recessive) g.(70240581_70241892)_(70247822_70248265)del 9.(70944754_70946065)_(70951995_70952438)del del ex7-8 - SMN1_000050 - PubMed: Bell 2011, PubMed: Xia 2021 - - Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen
+/. 1 7 c.734C>T r.(?) p.(Pro245Leu) - pathogenic g.70241903C>T g.70946076C>T 767C>T - SMN1_000016 - PubMed: Rochette 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.734dup r.734dup p.Pro246Thrfs*10 - pathogenic g.70241903dup g.70946076dup - - SMN1_000037 - - - - Germline - - - - - Rosário dos Santos
+/. 1 - c.735dup r.(?) p.(Pro246ThrfsTer10) ACMG pathogenic (recessive) g.70241904dup g.70946077dup c.735_736insA - SMN1_000089 - PubMed: Sharifi 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.740dup r.(?) p.(Pro248Serfs*8) - pathogenic g.70241909dup g.70946082dup 773insC - SMN1_000017 - PubMed: Martin 2002 - - Germline - - - - - Johan den Dunnen
+?/. 1 7 c.744del r.(?) p.(Ile249Tyrfs*16) - likely pathogenic g.70241913del g.70946086del (Pro247Profs*17) - SMN1_000064 - - - - Germline - - - - - Fang Song
?/. 1 7 c.767A>T r.spl? p.(Asp256Val) - VUS g.70241936A>T g.70946109A>T - - SMN1_000078 - - - - Germline/De novo (untested) - - - - - Kyriaki Kekou
+/. 5 7 c.770_780dup r.(?), r.770_780dup p.(Gly261Leufs*8), p.Gly261Leufs*8 - pathogenic g.70241939_70241949dup g.70946112_70946122dup 813ins/dup11 and 800ins11 - SMN1_000018 - Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000, 1 more item - - Germline - - - - - Johan den Dunnen, Rosário dos Santos
+/. 1 7 c.784A>G r.(?) p.(Ser262Gly) - pathogenic g.70241953A>G g.70946126A>G - - SMN1_000043 - PubMed: Sun 2005, OMIM:var0016 - - Germline - - - - - Johan den Dunnen
+/. 2 7 c.785G>T r.(?) p.(Ser262Ile) - pathogenic g.70241954G>T g.70946127G>T 818G>T - SMN1_000019 - PubMed: Hahnen 1997, OMIM:var0003, PubMed: McAndrew 1997 - - Germline - - - - - Johan den Dunnen
+?/. 1 7 c.811_814dup r.(?) p.(Tyr272Trpfs*35) - likely pathogenic g.70241980_70241983dup g.70946153_70946156dup - - SMN1_000062 - - - - Germline - - - - - Fang Song
+/., +?/. 3 7 c.815A>G r.(?) p.(Tyr272Cys) ACMG likely pathogenic (recessive), pathogenic g.70241984A>G g.70946157A>G 848A>G - SMN1_000021 ACMG: PS4, PM3, PS3_SUP, PM2_SUP, PP3 PubMed: Lefebvre 1995, OMIM:var0004, PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999 VCV000009166.3 - Germline yes - - - - Johan den Dunnen, Andreas Laner
+/. 1 7 c.819dup r.819dup p.Thr274Tyrfs*32 - pathogenic g.70241988dup g.70946161dup 819_820insT - SMN1_000055 - PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/. 3 7 c.821C>T r.(?) p.(Thr274Ile) - pathogenic g.70241990C>T g.70946163C>T 854C>T - SMN1_000022 haplotype shared with other German family PubMed: Hahnen 1997, OMIM:var0002, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.823G>A r.(?) p.(Gly275Ser) - pathogenic g.70241992G>A g.70946165G>A - - SMN1_000023 - PubMed: Skordis 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.830A>G r.830a>g p.Tyr277Cys - pathogenic g.70241999A>G g.70946172A>G - - SMN1_000056 - PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/. 1 7i c.834+2T>G r.spl? p.(?) - pathogenic g.70242005T>G g.70946178T>G 867+2T>G - SMN1_000024 - PubMed: Martin 2002 - - Germline - - - - - Johan den Dunnen
-/. 1 7i c.835-24dup r.(=) p.(=) - benign g.70247744dup g.70951917dup - - SMN1_000035 - PubMed: Ogino 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 6i c.835-23_835-22insNC_000004.11:81302538_81302865{81302854C>A} r.spl p.? - pathogenic g.? - hg19 chr5:g.70247745_70247746insNC_000004.11:81302538_81302865{81302854C>A} - SMN1_000067 insertion occurs in intron 6 branch point, predicted to alter splicing of exon 7 - - - Germline yes - - - - Kathleen Vinette
+/. 1 7i c.835-18_835-12del r.(spl?) p.(?) - pathogenic g.70247750_70247756del g.70951923_70951929del 868-11del7 - SMN1_000025 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 7i c.835-5T>G r.835_*3del p.Gly279Glufs*5 - pathogenic g.70247763T>G g.70951936T>G - - SMN1_000063 - - - - Germline - - - - - Fang Song
?/. 1 7i c.835-3C>T r.(?) p.(=) - VUS g.70247765C>T g.70951938C>T - - SMN1_000049 - - - - Germline - - - - - Pascale Saugier-Veber
+/. 1 6i_8i c.(724+1_835-1)_(*3+1_*4-1)del r.? p.? - pathogenic (recessive) g.(70241894_70247767)_(70247822_70248265)del - 1 copy ex7-8 SMN1 - SMN1_000084 - - - - Germline - - - - - Johan den Dunnen
+/. 2 7i_8i c.(834+1_835-1)_(*3+1_*4-1)del r.? p.? - pathogenic (recessive) g.(70242004_70247767)_(70247822_70248265)del g.(70946177_70951940)_(70951995_70952438)del del ex7 - SMN1_000086 - PubMed: Sharifi 2021 - - Germline - 7/432 families SMA - - - Johan den Dunnen
+/. 4 7i_8i, _7i_8i_ c.(?_835-1)_(*3+1_?)del r.?, r.spl? p.? - pathogenic, pathogenic (recessive) g.(?_70247767)_(70247822_?)del - 0 SMN1, ex7 del homozygous) - SMN1_000082 - PubMed: Prior 2009 - - Germline - - - - - Johan den Dunnen, Sha Hong
+/. 1 - c.835G>C r.(?) p.(Gly279Arg) - pathogenic (recessive) g.70247768G>C - - - SMN1_000091 - PubMed: Bai 2022 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.835G>T r.(?), r.(spl?) p.(Gly279Cys) ACMG pathogenic, pathogenic (recessive) g.70247768G>T g.70951941G>T 868G>T - SMN1_000026 - PubMed: Sharifi 2021, PubMed: Wang 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.836G>T r.(?) p.(Gly279Val) - pathogenic g.70247769G>T g.70951942G>T 869G>T - SMN1_000027 - PubMed: Talbot 1997, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.838T>A r.(?) p.(Phe280Ile) ACMG likely pathogenic (recessive) g.70247771T>A g.70951944T>A - - SMN1_000090 - PubMed: Sharifi 2021 - - Germline - - - - - Johan den Dunnen
+/., -/., ?/. 3 8 c.(840C>T), c.840C>T r.(?), r.spl, r.spl? p.(=), p.(Phe280=), p.? - benign, pathogenic (recessive), VUS g.70247773C>T g.70951946C>T SMN1(NM_000344.3):c.840C>T (p.F280=) - SMN1_000047 difference with SMN2 gene, VKGL data sharing initiative Nederland PubMed: Sharifi 2021 - - CLASSIFICATION record, Germline - 3/432 families SMA - - - Johan den Dunnen, VKGL-NL_Utrecht
+?/. 3 8 c.863G>T r.835_*3del p.Gly279Glufs*5 - likely pathogenic g.70247796G>T g.70951969G>T - - SMN1_000057 - - - - Germline - - - - - Fang Song
+/. 2 8i c.*3+4_*3+7del r.spl? p.(?) - pathogenic g.70247825_70247828del g.70951998_70952001del 922+3del4 - SMN1_000028 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/. 2 8i c.*3+6T>G r.(spl?) p.(?) - pathogenic g.70247827T>G g.70952000T>G 922+6T>G - SMN1_000029 - PubMed: Lorson 1999, OMIM:var0008, PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
-?/. 1 8i c.*3+80T>G r.(?) p.(=) - likely benign g.70247901T>G g.70952074T>G g.27134T>G - SMN1_000070 - - - rs143838139 Germline - - - - - Laura Alías
+/. 3 8i c.(*3+1_*4-1)_(*575_?)del r.(?) p.(?) - pathogenic g.(70247822_70248265)_(70248837_?)del - del exon 8 - SMN1_000030 - PubMed: Gambardella 1998, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
-?/. 4 10, 9 c.*211_*212del r.(=), r.(?) p.(=) - likely benign g.70248473_70248474del g.70952646_70952647del, g.70952647_70952648del *210_*211del, *210_*211del g.27706_27707delAT, SMN1(NM_000344.4):c.*211_*212delAT - SMN1_000071 VKGL data sharing initiative Nederland, 1 more item - - rs200800214 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Laura Alías
?/. 1 9 c.(*239G>A) r.(?) p.(=) - VUS g.70248501G>A g.70952674G>A - - SMN1_000048 difference with SMN2 gene - - - Germline - - - - - Johan den Dunnen
-/. 1 9 c.*338_*339delinsGC r.(?) p.(=) - benign g.70248600_70248601delinsGC g.70952773_70952774delinsGC - - SMN1_000032 - - - - Germline - - - - - Johan den Dunnen
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