List of variants reported as likely pathogenic for Emery-Dreifuss muscular dystrophy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 135

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.226-2dup	rs774388631	0.00013
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	rs2754158	0.00003
NM_182961.4(SYNE1):c.17682+1G>A	rs1064796579	0.00003
NM_182961.4(SYNE1):c.24129+2T>C	rs544985182	0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)	rs121912493	0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	rs59601651	0.00002
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	rs397516103	0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)	rs267606911	0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	rs730880761	0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	rs397516201	0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	rs397516265	0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	rs386134243	0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	rs150840924	0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	rs57830985	0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	rs60864230	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=)	rs794728593	0.00001
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)	rs746438011	0.00001
NM_182961.4(SYNE1):c.6723+1G>C	rs779302145	0.00001
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152570395)_(152837167_?)del
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NC_000023.10:g.(?_135292010)_(135292184_?)del
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.135dup (p.Arg46fs)	rs1557182301
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
NM_000117.3(EMD):c.16del (p.Asp6fs)	rs1569552076
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.406del (p.Asp136fs)	rs2148128715
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
NM_000117.3(EMD):c.450-1G>A
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000117.3(EMD):c.662_663insT (p.Gln222fs)
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.740_743del (p.Gln247fs)
NM_000117.3(EMD):c.77T>C (p.Val26Ala)	rs727505029
NM_000117.3(EMD):c.82+1G>A	rs1557182214
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)	rs727504753
NM_000257.4(MYH7):c.1495GAG[1] (p.Glu500del)	rs1555338254
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)	rs863224900
NM_000257.4(MYH7):c.1888C>A (p.Pro630Thr)	rs397516124
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	rs138049878
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	rs397516178
NM_000257.4(MYH7):c.428G>C (p.Arg143Pro)	rs397516209
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	rs45544633
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro)	rs730880809
NM_000257.4(MYH7):c.5158-16C>G
NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro)
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	rs397516248
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)	rs28933098
NM_000257.4(MYH7):c.5655+1G>A
NM_000257.4(MYH7):c.5655+1G>C	rs1892079951
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	rs397516264
NM_000257.4(MYH7):c.732+1del	rs397516266
NM_001159699.2(FHL1):c.205-1G>A	rs2073859427
NM_001159699.2(FHL1):c.230G>A (p.Trp77Ter)
NM_001159699.2(FHL1):c.377_379+24del	rs2148373814
NM_001159699.2(FHL1):c.380-2A>G	rs2148375467
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)	rs1603271659
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)	rs145445372
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)	rs122458145
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001159699.2(FHL1):c.785_793dup (p.Tyr264_Cys265insTyrAspTyr)	rs1603273609
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)	rs2073964376
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)	rs1556639771
NM_001159702.3(FHL1):c.705_706del (p.Arg236fs)
NM_024334.3(TMEM43):c.201dup (p.Leu68fs)
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	rs58436778
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	rs1553265999
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	rs57629361
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	rs60580541
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	rs2102898301
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	rs2102817952
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	rs918645468
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)	rs1553262007
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)	rs747998566
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	rs199474724
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	rs57207746
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.822del (p.Arg275fs)	rs2102883169
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	rs886043109
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)
NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)
NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)
NM_182914.3(SYNE2):c.7681A>T (p.Lys2561Ter)
NM_182914.3(SYNE2):c.990_990+4del
NM_182961.4(SYNE1):c.10145+1G>A	rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C	rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.12079-2A>T	rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C	rs2154000325
NM_182961.4(SYNE1):c.15438+2T>C
NM_182961.4(SYNE1):c.15837_15917+69del	rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G	rs2153903647
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.18208-1G>A	rs2153725036
NM_182961.4(SYNE1):c.18382-1G>A	rs762660111
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C	rs1588855714
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)	rs2086610889
NM_182961.4(SYNE1):c.22044+1G>A	rs1372915935
NM_182961.4(SYNE1):c.22590-1G>A	rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23146-1G>A
NM_182961.4(SYNE1):c.23301+1G>A
NM_182961.4(SYNE1):c.23628-1G>A
NM_182961.4(SYNE1):c.23790+1G>A	rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.25119+1G>A	rs1164612098
NM_182961.4(SYNE1):c.2568+1G>A	rs2154261629
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
NM_182961.4(SYNE1):c.3175A>T (p.Lys1059Ter)
NM_182961.4(SYNE1):c.67+2T>A	rs762743107
NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)
NM_182961.4(SYNE1):c.888+2T>C
NM_182961.4(SYNE1):c.9009+1G>A

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