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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 214

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)	rs967105970	0.00011
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)	rs375077588	0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)	rs778445117	0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)	rs199708211	0.00002
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)	rs869025431	0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)	rs752224921	0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)	rs766129413	0.00001
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)	rs1300885934	0.00001
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)	rs781655232	0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)	rs780451185	0.00001
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)	rs780634258	0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)	rs1174316105	0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	rs797046025	0.00001
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)	rs750266004	0.00001
NC_000006.11:g.(?_152485278)_(152485480_?)del
NC_000006.12:g.(?_152122416)_(153426916_?)del
NC_000023.10:g.(?_135288556)_(135293528_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_153607393)_(153608624_?)del
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153607835)_(153609567_?)del
NC_000023.10:g.(?_153609093)_(153609182_?)del
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)	rs2148128122
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)	rs1060502612
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	rs782011714
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	rs132630262
NM_000117.3(EMD):c.135dup (p.Arg46fs)	rs1557182301
NM_000117.3(EMD):c.143dup (p.Ser49fs)
NM_000117.3(EMD):c.153del (p.Ser52fs)	rs876661345
NM_000117.3(EMD):c.153dup (p.Ser52fs)	rs876661345
NM_000117.3(EMD):c.187+1G>A	rs794729010
NM_000117.3(EMD):c.187+1G>T	rs794729010
NM_000117.3(EMD):c.187+2T>G
NM_000117.3(EMD):c.1A>G (p.Met1Val)	rs267606782
NM_000117.3(EMD):c.217_218dup (p.Met73fs)	rs1557182364
NM_000117.3(EMD):c.251_255del (p.Leu84fs)	rs782452523
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.2T>G (p.Met1Arg)	rs2148127941
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
NM_000117.3(EMD):c.399+1G>T	rs2148128554
NM_000117.3(EMD):c.399+2T>C
NM_000117.3(EMD):c.3G>A (p.Met1Ile)	rs886044771
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	rs1557182560
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.475_476del (p.Ser159fs)	rs2067883871
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)	rs2148128811
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	rs1557182611
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	rs886044901
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)	rs794729019
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
NM_000117.3(EMD):c.548C>A (p.Pro183His)	rs104894805
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)	rs2148128862
NM_000117.3(EMD):c.570del (p.Phe190fs)	rs2148128871
NM_000117.3(EMD):c.570dup (p.Met191fs)	rs2148128871
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
NM_000117.3(EMD):c.581_582del (p.Ser194fs)	rs1557182654
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)	rs1557182661
NM_000117.3(EMD):c.607del (p.Arg203fs)	rs1569552106
NM_000117.3(EMD):c.60del (p.Asn20fs)	rs886041854
NM_000117.3(EMD):c.619del (p.Arg207fs)	rs2067885544
NM_000117.3(EMD):c.621del (p.Pro208fs)	rs1557182670
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)	rs1557182676
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)	rs2148128961
NM_000117.3(EMD):c.643del (p.Ala215fs)
NM_000117.3(EMD):c.650_654del (p.Leu217fs)	rs730880352
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
NM_000117.3(EMD):c.77dup (p.Val27fs)	rs2067873691
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
NM_000117.3(EMD):c.83-2A>C	rs727504901
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
NM_001159699.2(FHL1):c.108del (p.Gln37fs)	rs1060502840
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)	rs2073860048
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)	rs777580253
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
NM_001159699.2(FHL1):c.288del (p.Phe96fs)	rs2148373432
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)	rs2073864792
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)	rs1556638935
NM_001159699.2(FHL1):c.379+1G>A	rs2073866799
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)	rs1569530437
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)	rs122458140
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)	rs1556639109
NM_001159699.2(FHL1):c.414del (p.Trp138fs)	rs2148375686
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)	rs267606812
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)	rs267606813
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)	rs267606813
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)	rs2073885767
NM_001159699.2(FHL1):c.441del (p.Cys148fs)	rs2148375860
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)	rs1556639151
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)	rs1603271659
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)	rs122459146
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)	rs122458144
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)	rs122458144
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)	rs2148371451
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)	rs1603272191
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)	rs1191211949
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)	rs1569530588
NM_001159699.2(FHL1):c.618del (p.Cys207fs)	rs2148378462
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)	rs1603272223
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)	rs2073913069
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)	rs1556639379
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)	rs1603272263
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)	rs122459149
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001159699.2(FHL1):c.736+1G>C	rs786200914
NM_001159699.2(FHL1):c.736+2T>G	rs2073916521
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)	rs2073964376
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)	rs1603273685
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)	rs2148383945
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)	rs2148384040
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)	rs2096893099
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)	rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)	rs886042380
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
NM_182961.4(SYNE1):c.14278del (p.His4760fs)	rs2153970781
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)	rs1270730854
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)	rs1291249200
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)	rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)	rs772587027
NM_182961.4(SYNE1):c.16390-2A>C	rs759460806
NM_182961.4(SYNE1):c.16390-2A>G	rs759460806
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)	rs886043923
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)	rs777656140
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)	rs2153836962
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)	rs746328978
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)	rs2153809530
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)	rs2153732048
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)	rs2153709458
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)	rs910956017
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)	rs1258745040
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)	rs2153619687
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)	rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)	rs1385280819
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)	rs766499430
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)	rs2153537904
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)	rs138032057
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
NM_182961.4(SYNE1):c.225+1del	rs2154353746
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)	rs1586296730
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
NM_182961.4(SYNE1):c.24977-13_24996del
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)	rs2098713648
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)	rs2154254291
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)	rs1554721227
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)	rs2098527248
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)	rs794727577
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)	rs757744079
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)	rs988770583
NM_182961.4(SYNE1):c.4975_4976+8del	rs1592490234
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)	rs2154194664
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)	rs1466752822
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)	rs2154182611
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)	rs2098158268
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)	rs2154170060
NM_182961.4(SYNE1):c.639del (p.His214fs)	rs1412791793
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)	rs1417491327
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)	rs2154151091
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)	rs2154331501
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)	rs946657984
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)	rs2097516516
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)	rs2154115529
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)	rs750544827
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)

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