All 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.

222 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     
+/. _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 - - - - - Johan den Dunnen
+/. _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 - - - - - Johan den Dunnen
+/. _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 - - - - - Johan den Dunnen
+/. _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 - - - - - Johan den Dunnen
+/. _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 - 3/432 families SMA - - - Johan den Dunnen
+/. _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 - 4/432 families SMA - - - Johan den Dunnen
+/. _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 - 143/432 families SMA - - - Johan den Dunnen
+/. _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 - 2/432 families SMA - - - Johan den Dunnen
+/. _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 - 30/432 families SMA - - - Johan den Dunnen
+/. _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 - 22/432 families SMA - - - Johan den Dunnen
+/. _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 - 4/432 families SMA - - - Johan den Dunnen
+/. _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 - 2/432 families SMA - - - Johan den Dunnen
+/. _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 - 8/432 families SMA - - - Johan den Dunnen
+/. _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 - 15/432 families SMA - - - Johan den Dunnen
+/. _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 - 10/432 families SMA - - - Johan den Dunnen
+/. _1_9 c.-163_*577{0} r.0 p.0 ACMG pathogenic g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del NM_000344.3: SMN1 0 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - Johan den Dunnen
+/. _1_9 c.-163_*577{0} r.0 p.0 ACMG pathogenic g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del NM_000344.3:SMN1 0 copies NM_017411.3:SMN2 3 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Gambardella 1998 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Lefebvre 1995 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Lorson 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sossi 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sossi 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sossi 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Cusco 2004 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Cusco 2004 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Tsai 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Martin 2002 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - Clermont 1997, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Brahe 1996 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998, PubMed: Parsons 1998 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - Clermont 1997, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Tsai 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Rochette 1997 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Martin 2002 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: McAndrew 1997 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Skordis 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Skordis 2001 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Martin 2002 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wang 1998 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Talbot 1997 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 1 copy SMN2 PubMed: Yamamoto 2013 - - Germline yes - - - - Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 3 copies SMN2 PubMed: Kotani 2007, PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 3 copies SMN2 PubMed: Kotani 2007, PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 SMN2 2 copies PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 SMN2 1 copy PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 SMN2 1 copy PubMed: Yamamoto 2013 - - Unknown - - - - - Hisahide Nishio
+/. 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 c.-14C>T r.(?) p.(=) - pathogenic g.70220917C>T g.70925090C>T - - SMN1_000038 - PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
+/. 1 c.-7_9del r.-7_9del p.0 - pathogenic g.70220924_70220939del g.70925097_70925112del - - SMN1_000059 - - - - Germline - - - - - Fang Song
+/. 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
+/. _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 - 7/432 families SMA - - - Johan den Dunnen
+/. _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 - - - Johan den Dunnen
+/. _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 - 5/432 families SMA - - - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - del ex7 - RAD50_000000 - PubMed: Reiner 2022 - - Germline - 2/73,755 controls - - - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - del ex7 - RAD50_000000 - PubMed: Reiner 2022 - - Germline - 2/73,755 controls - - - Johan den Dunnen
+/. 1 c.5C>G r.(?) p.(Ala2Gly) - pathogenic g.70220935C>G g.70925108C>G 38C>G - SMN1_000001 - PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
+/. 1 c.5C>G r.(?) p.(Ala2Gly) - pathogenic g.70220935C>G g.70925108C>G 38C>G - SMN1_000001 founder mutation likely PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
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