Sugi Variant

Sugi Variant/SYNE1

SYNE1 — 6870 ClinVar variants

All ClinVar germline SYNE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2478 flagged for review →

194 Pathogenic · 35 Pathogenic/Likely pathogenic · 166 Likely pathogenic · 560 Conflicting · 437 Benign · 144 Benign/Likely benign · 1866 Likely benign · 3468 Uncertain significance

Full SYNE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2478

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 163

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 163

Predictors lean, ClinVar uncertain 2206

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2206

Predictors split 105

The independent predictors disagree with each other — read with care.

All SYNE1 variants

Pathogenic 194

  • c.15918-12A>G Multiple submitters Inborn genetic diseases
  • c.23979-2A>G Multiple submitters
  • p.Arg118Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg1537Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg236Ter Multiple submitters SYNE1-related disorder
  • p.Arg2899Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg3070Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3472Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg4834Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4882Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg5325Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg5371Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg6475Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg648fs Multiple submitters Inborn genetic diseases
  • p.Arg648Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg6755Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg7155Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg7261Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7842Ter Multiple submitters juvenile amyotrophic lateral sclerosis
  • p.Arg8047Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8193Ter Multiple submitters arthrogryposis multiplex congenita 3, myogenic type
  • p.Arg8420Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp5939fs Multiple submitters SYNE1-related disorder
  • p.Gln1512Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln638Ter Multiple submitters
  • p.Gln7711Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln8337Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu1721Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ile5771fs Multiple submitters SYNE1-related disorder
  • p.Trp2319Ter Multiple submitters SYNE1-related disorder
  • p.Trp6691Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Tyr7244Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • c.10443+1G>T Single submitter
  • c.19893+1G>T Single submitter
  • c.225+1del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23020-1G>A Single submitter
  • c.23461-1G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24977-13_24996del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24979del Single submitter
  • c.26095-2A>G Single submitter
  • c.4975_4976+8del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.6050+1G>A Single submitter
  • c.67+1G>T Single submitter
  • c.6724-1G>A Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala1166_Val1167insTer Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3617fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3854fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg1044Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg1309Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg221Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg391fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg391Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4041Ter Single submitter
  • p.Arg4650Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg6482fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7690Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg8272Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Asn1348fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asn2362fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp4297fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp457fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp5094fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp5228fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp6727fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp7273fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp7325_Gln7326delinsGluTer Single submitter
  • p.Cys7957fs Single submitter
  • p.Gln1647Ter Single submitter
  • p.Gln1700Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln1843fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln2450Ter Single submitter
  • p.Gln2468Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln2690Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln2777Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln2964Ter Single submitter
  • p.Gln3498Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln4083Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln4735fs Single submitter
  • p.Gln4862Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln5017Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln5102Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln5739Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln5969Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln6239Ter Single submitter
  • p.Gln6314Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln6319Ter Single submitter arthrogryposis multiplex congenita 3, myogenic type
  • p.Gln6522Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln6812fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln7232Ter Single submitter
  • p.Gln7644Ter Single submitter juvenile amyotrophic lateral sclerosis
  • p.Gln7798fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln846Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln8489Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln8606Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln998Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu1257fs Single submitter
  • p.Glu1505Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu2076Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu2290Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu2293fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu341Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu4738Ter Single submitter
  • p.Glu4892fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu5762Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu5905Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu6399fs Single submitter
  • p.Glu6766Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu7018Ter Single submitter
  • p.Glu7470Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu7831fs Single submitter
  • p.Glu8043Ter Single submitter
  • p.Glu8630Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.His3816fs Single submitter
  • p.His4433fs Single submitter autosomal recessive ataxia, Beauce type
  • p.His4760fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Ile1058fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ile3107fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ile3735fs Single submitter
  • p.Ile5362fs Single submitter
  • p.Ile5501fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu1749fs Single submitter SYNE1-related disorder
  • p.Leu184Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu1865fs Single submitter
  • p.Leu1966fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu3373fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Leu407fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu4199Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Leu4938Ter Single submitter
  • p.Leu5958fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Leu6247fs Single submitter
  • p.Leu6317fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Leu6408Ter Single submitter
  • p.Leu7006fs Single submitter SYNE1-related disorder
  • p.Leu7668fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Leu8424fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Leu859fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Lys1281fs Single submitter
  • p.Lys2043fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Lys3333fs Single submitter
  • p.Lys4121fs Single submitter
  • p.Lys4662fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Lys529fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Lys8040Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Met1443fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Met6284fs Single submitter
  • p.Met635fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Phe1214fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Phe33fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Phe4652fs Single submitter
  • p.Pro1089fs Single submitter
  • p.Pro5877fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser2126fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser521Ter Single submitter
  • p.Ser5883Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser6144Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser6349_Ala6350delinsTer Single submitter
  • p.Ser8074Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser8232fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Ser8559fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Thr4341fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Thr4621fs Single submitter
  • p.Thr5934fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Thr6048fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr7691fs Single submitter
  • p.Trp1008Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Trp187Ter Single submitter
  • p.Trp2637Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Trp2930Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Trp4051Ter Single submitter
  • p.Trp5189Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Trp6393Ter Single submitter
  • p.Trp7003Ter Single submitter SYNE1-related disorder
  • p.Trp7024Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Trp7578Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Trp7761Ter Single submitter arthrogryposis multiplex congenita 3, myogenic type
  • p.Trp8001fs Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Trp8442Ter Single submitter
  • p.Trp8453Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr1589fs Single submitter autosomal recessive ataxia, Beauce type
  • p.Tyr1636Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Tyr4676Ter Single submitter
  • p.Tyr491Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Tyr5743Ter Single submitter
  • p.Tyr6505Ter Single submitter
  • p.Tyr6732Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr8195Ter Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24313-2A>G No assertion criteria arthrogryposis multiplex congenita 3, myogenic type
  • c.67+1G>A No assertion criteria autosomal recessive ataxia, Beauce type
  • p.Arg3590Ter No assertion criteria autosomal recessive ataxia, Beauce type
  • p.Asp6991fs No assertion criteria autosomal recessive ataxia, Beauce type
  • p.Gln7457Ter No assertion criteria autosomal recessive ataxia, Beauce type
  • p.Met3970fs No assertion criteria autosomal recessive ataxia, Beauce type
  • p.Trp8123Ter No assertion criteria
  • p.Tyr7247Ter No assertion criteria autosomal recessive ataxia, Beauce type

Pathogenic/Likely pathogenic 35

  • c.10145+1G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.16390-2A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.25119+1G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala6670fs Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg1521Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg3028Ter Multiple submitters
  • p.Arg4420Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg4764Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5196Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5410Ter Multiple submitters SYNE1-related disorder
  • p.Arg7050Ter Multiple submitters Abnormal central motor function
  • p.Arg8336Ter Multiple submitters arthrogryposis multiplex congenita 3, myogenic type
  • p.Arg8746Ter Multiple submitters cleft lip/palate
  • p.Gln2763Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln2956Ter Multiple submitters
  • p.Gln6228Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln7312Ter Multiple submitters SYNE1-related disorder
  • p.Glu1661fs Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu2210Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu7570fs Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.His214fs Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ile3991fs Multiple submitters
  • p.Leu1458fs Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu1880fs Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu2564Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu8180fs Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Lys2388fs Multiple submitters
  • p.Lys3209Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser160_Ser161insTer Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser5474Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Trp1746Ter Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Trp7220Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr5385Ter Multiple submitters
  • p.Tyr6633Ter Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Val2962fs Multiple submitters autosomal recessive ataxia, Beauce type

Likely pathogenic 166

Conflicting classifications of pathogenicity 560

Showing the top 300 by review status; the full set is in the sitemap.

  • c.10443+5G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10444-6T>C Single submitter
  • c.11083-8T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11253+9G>A Single submitter autosomal recessive ataxia, Beauce type
  • c.12225+4G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12351+1G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1463+9A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.14955+4G>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.14955+8T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.15657+5T>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.15917+9G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.16237-10A>T Single submitter autosomal recessive ataxia, Beauce type
  • c.16237-3del Single submitter autosomal recessive ataxia, Beauce type
  • c.1632+10C>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.16390-2A>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.16390-6A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.16573-3C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.16573-9G>T Single submitter autosomal recessive ataxia, Beauce type
  • c.1730-7G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.17347-6C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.17542-5G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.17542-7G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.17683-11T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.17851-7G>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.18012+1G>T Single submitter autosomal recessive ataxia, Beauce type
  • c.18574-11G>A Single submitter autosomal recessive ataxia, Beauce type
  • c.18574-13T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.18574-4G>C Single submitter autosomal recessive ataxia, Beauce type
  • c.18574-8A>C Single submitter autosomal recessive ataxia, Beauce type
  • c.18972+4T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1932+9G>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.19693-15G>A Single submitter autosomal recessive ataxia, Beauce type
  • c.20200-3T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.21195+12A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.21351+14C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.21352-7T>G Single submitter autosomal recessive ataxia, Beauce type
  • c.21832-2dup Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.22346+7T>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.22347-6T>G Single submitter autosomal recessive ataxia, Beauce type
  • c.22589+4G>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.226-2dup Single submitter autosomal recessive ataxia, Beauce type
  • c.23020-7A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.23146-7dup Single submitter autosomal recessive ataxia, Beauce type
  • c.23302-8C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23791-13C>T Single submitter autosomal recessive ataxia, Beauce type
  • c.23791-6del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23791-7C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23978+10G>A Single submitter autosomal recessive ataxia, Beauce type
  • c.23978+11A>T Single submitter autosomal recessive ataxia, Beauce type
  • c.23979-7G>C Single submitter
  • c.24642+3A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.24977-1718G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24977-1719A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24977-5C>T Single submitter autosomal recessive ataxia, Beauce type
  • c.25119+3A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.25120-6A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2569-7G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2569-8C>T Single submitter autosomal recessive ataxia, Beauce type
  • c.2727+1G>T Single submitter
  • c.2893-5G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2893-6T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.309+14A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.310-459A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.310-468G>A Single submitter autosomal recessive ataxia, Beauce type
  • c.3669+4C>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.3670-4A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.3837+8T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.4008+15T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.4009-10dup Single submitter autosomal recessive ataxia, Beauce type
  • c.4150-5dup Single submitter autosomal recessive ataxia, Beauce type
  • c.4461+15C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.4789-5_4789-3del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.5421+9G>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.581+10_581+11del Single submitter autosomal recessive ataxia, Beauce type
  • c.581+10A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.581+7A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.581+8T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.582-9A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.6231-7A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.6723+1G>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.68-14C>A Single submitter autosomal recessive ataxia, Beauce type
  • c.6826-6A>G Single submitter autosomal recessive ataxia, Beauce type
  • c.7029+15A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.7238-11T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.7713-11C>T Single submitter autosomal recessive ataxia, Beauce type
  • c.7713-4T>A Single submitter autosomal recessive ataxia, Beauce type
  • c.7713-5T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.779-4dup Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.8005-3C>T Single submitter autosomal recessive ataxia, Beauce type
  • c.9147-3C>T Single submitter
  • c.9507+6T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.9807+14C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.9807+5C>T Single submitter autosomal recessive ataxia, Beauce type
  • c.-223-10T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.-49C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.*191A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala1158Val Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala1608= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala1608Thr Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala1630Gly Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala1710Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala1950= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala2051Pro Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala2097= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala2097Pro Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala2428= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala3145= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3299= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3420= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala3483= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala4019Glu Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala421Val Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala4408Thr Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala4705= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala4729= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala5776Ser Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala5933Thr Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala6291Thr Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala6512Ser Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala6841= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala7318Thr Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Ala7339Asp Single submitter Inborn genetic diseases
  • p.Ala7641= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala7827Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala8116= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala8183= Single submitter autosomal recessive ataxia, Beauce type
  • p.Ala8276Gly Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg1091Trp Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg1344= Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg1344Gln Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1354= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg2000Lys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2005Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2435Cys Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg3028= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3031= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg31Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg31Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg3202Cys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3210= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3232= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3492His Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3576Gln Single submitter Abnormal brain morphology ⚠
  • p.Arg3627Cys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3661= Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg3785= Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg4223Cys Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4444Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4474Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg4518= Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg4673Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg4741Cys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg4834Gln Single submitter SYNE1-related disorder ⚠
  • p.Arg5110= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5272= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5272Gln Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5303Trp Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5432Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5513Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg5518Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5617Gln Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5662Cys Single submitter arthrogryposis multiplex congenita 3, myogenic type
  • p.Arg5672= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5880= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg6065Trp Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6171Ser Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6227Trp Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6577Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg6676Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7050Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg7155= Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg7157His Single submitter Inborn genetic diseases ⚠
  • p.Arg7412His Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg7435Cys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg7660Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg7753= Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg7772Gln Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg7999Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8117Trp Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg8266Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8272Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8293Gln Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg82Leu Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8319Gln Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8468His Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8542Trp Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg85Ter Single submitter autosomal recessive ataxia, Beauce type
  • p.Arg8700= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8738Cys Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg896= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg944= Single submitter
  • p.Asn1348= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asn2215= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asn3550= Single submitter
  • p.Asn3595= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asn38= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asn4590Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn4617His Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Asn501= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asn6018Ser Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Asn7486Lys Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp1025Val Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Asp3177Gly Single submitter SYNE1-related disorder
  • p.Asp3312Asn Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp346= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp3667= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp375= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp381Asn Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp3897= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp3902Glu Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Asp4043Gly Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp4310= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp4637Asn Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp6160= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp6342= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp6396= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp6723= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp6806Ala Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Asp7095= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp7273= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp7864Asn Single submitter hereditary ataxia ⚠
  • p.Asp8218Asn Single submitter SYNE1-related disorder ⚠
  • p.Asp829= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp8294Gly Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Asp8448Asn Single submitter spastic ataxia
  • p.Asp8584Ala Single submitter Inborn genetic diseases
  • p.Asp8661= Single submitter autosomal recessive ataxia, Beauce type
  • p.Asp8668= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Cys2216= Single submitter autosomal recessive ataxia, Beauce type
  • p.Cys3677= Single submitter autosomal recessive ataxia, Beauce type
  • p.Cys3677Tyr Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Cys4575Phe Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Cys8505= Single submitter autosomal recessive ataxia, Beauce type
  • p.Cys8552= Single submitter autosomal recessive ataxia, Beauce type
  • p.Cys982= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln1146Glu Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gln1293= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln1634= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln1709Lys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln1761Arg Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gln1889Pro Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gln2486= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln2666Lys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln2744Lys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln2747His Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gln3163= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln3239Glu Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln3383= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln3696= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln3830= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln4085= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln4693= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln4890His Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln5190Glu Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln5265Arg Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gln6225= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln6261= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln6310His Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gln6419Glu Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Gln6509= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln6852= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln7256= Single submitter
  • p.Gln7501= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln7519= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln762= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gln877Arg Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Glu1179Ala Single submitter hereditary ataxia ⚠
  • p.Glu1312Asp Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Glu1318Gln Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Glu1325= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu1628= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu2495= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu3612= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu3709= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu4119Lys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Glu4473Lys Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu4923= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu5126Ala Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Glu5163= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu5926= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu6031Lys Single submitter autosomal recessive ataxia, Beauce type ⚠
  • p.Glu6115Asp Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Glu6455= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu6720Ala Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu6774= Single submitter
  • p.Glu6803= Single submitter autosomal recessive ataxia, Beauce type
  • p.Glu7308= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu8038= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu809= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu8398= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu8461Lys Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Glu8539= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gly1161Arg Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gly1940= Single submitter autosomal recessive ataxia, Beauce type
  • p.Gly2915= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gly3117Arg Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gly3430Glu Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Gly3781= Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gly3910Glu Single submitter autosomal recessive ataxia, Beauce type
  • p.Gly4131= Single submitter autosomal recessive ataxia, Beauce type

Benign 437

Showing the top 300 by review status; the full set is in the sitemap.

Benign/Likely benign 144

  • c.10145+12T>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.11581-16_11581-15dup Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12529-12G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1632+11del Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.17203-6dup Multiple submitters
  • c.17203-7_17203-6del Multiple submitters
  • c.1729+14C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.17542-14A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.18573+16G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.19692+3G>A Multiple submitters arthrogryposis multiplex congenita 3, myogenic type
  • c.20068-29dup Multiple submitters
  • c.20199+16C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.20863-3dup Multiple submitters autosomal recessive ataxia, Beauce type
  • c.2098-29C>T Multiple submitters
  • c.2098-50G>A Multiple submitters
  • c.23019+48G>A Multiple submitters
  • c.23461-6A>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24977-1678T>G Multiple submitters
  • c.24977-1702G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.26002-4A>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2892+21A>G Multiple submitters
  • c.3027+17C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.3396-17T>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.3669+10T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.3670-14del Multiple submitters autosomal recessive ataxia, Beauce type
  • c.4008+19G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.402+11A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.4788+26_4788+28del Multiple submitters
  • c.4789-13G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.581+18G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.7030-16T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.7556+14A>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.7713-12C>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.7713-18_7713-17insTTTTTTC Multiple submitters autosomal recessive ataxia, Beauce type
  • c.7713-4T>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.9507+19A>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.9651+12G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.9651+20G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.9807+14C>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.9972+19A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala1166= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala1630Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala1701Ser Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala3140= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3732= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3919Val Multiple submitters
  • p.Ala4000= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala4019= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala6038= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala6051= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala7138= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala8168Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg1388Trp Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg2537Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4761Gly Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg5956His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg843Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg899= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg961Gln Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg961Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asn4590Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asn6147= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asn6503Ser Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asn661= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asn8161His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp2201= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp4148His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp4721= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp5105Asn Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp52= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp6764= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp7379= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Cys4021Arg Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln3609His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln5492= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln626= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln6294Leu Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln655Arg Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu1312Lys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu2746= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu4203Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu5157Lys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu579= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu726Gly Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu7905Lys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu999Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gly2297Arg Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gly3403Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gly7294= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.His4137= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.His6663= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ile2045Met Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ile2779Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu1268= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu2800= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu3508= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu4092= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu5346= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu7603= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu7668Val Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Lys2043= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Lys3729Asn Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Lys3746= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Lys4121Asn Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Met3369Val Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Met4697Ile Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Met6566Ile Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Met740Ile Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Phe7302Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Pro4057Leu Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Pro8364Leu Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Pro8766= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser2618= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser3055= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser3255Leu Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser3346Tyr Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser3352= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser613Phe Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser6857= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser6882= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser7405= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser7484= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser8382= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr1040= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Thr1320= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr1586Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr3297Met Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr3427= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Thr3829Ala Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Thr4117Met Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr4621= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr495Ala Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr5426Met Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr6664Ile Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr7110= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Tyr1532= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Val1063Ala Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Val2722Ile Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Val3341Ala Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Val4189Met Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Val4546Ile Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Val5151Met Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Val799Ile Multiple submitters autosomal recessive ataxia, Beauce type
  • c.*95C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Likely benign 1866

Showing the top 300 by review status; the full set is in the sitemap.

  • c.10300-116G>A Multiple submitters
  • c.10300-5T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10608+73A>G Multiple submitters
  • c.10609-211A>G Multiple submitters
  • c.10609-67A>G Multiple submitters
  • c.11083-66A>G Multiple submitters
  • c.11733+40C>T Multiple submitters
  • c.1185+8C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11901+95A>G Multiple submitters
  • c.11902-15G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12528+196G>A Multiple submitters
  • c.1351-80G>A Multiple submitters
  • c.1464-237A>G Multiple submitters
  • c.14956-14T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.15918-49G>A Multiple submitters
  • c.16237-20G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.1632+12G>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.1632+6T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.16710+306G>A Multiple submitters
  • c.1729+8A>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1730-62A>G Multiple submitters
  • c.17347-185C>T Multiple submitters
  • c.17347-275A>T Multiple submitters
  • c.17542-123C>T Multiple submitters
  • c.17850+19del Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.18012+10G>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.18013-156A>T Multiple submitters
  • c.18013-16A>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.18382-19_18382-17dup Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.18706-134T>G Multiple submitters
  • c.18815+16C>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.18972+115G>A Multiple submitters
  • c.19105-16G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.1932+19A>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.19471-17G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.19573-12G>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.20068-20G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.20396+22A>G Multiple submitters
  • c.20397-11A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.20712+145A>C Multiple submitters
  • c.20862+10A>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.20863-12dup Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2097+20A>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.21039+60C>G Multiple submitters
  • c.21351+43C>T Multiple submitters
  • c.21522+29C>T Multiple submitters
  • c.21523-18G>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.21657-20G>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.22044+11C>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.22044+14A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.22192-66G>A Multiple submitters
  • c.22495-18_22495-16del Multiple submitters autosomal recessive ataxia, Beauce type
  • c.226-120A>G Multiple submitters
  • c.22824+13_22824+15del Multiple submitters autosomal recessive ataxia, Beauce type
  • c.22824+19T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23019+108C>T Multiple submitters
  • c.23019+74A>G Multiple submitters
  • c.23301+10G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.23460+10G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23978+16G>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.23978+64A>G Multiple submitters
  • c.23979-7G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24130-89C>T Multiple submitters
  • c.24313-12C>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.24313-8C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.24643-14G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.24977-1916C>T Multiple submitters
  • c.25246+17C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.25246+8C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.25459-7T>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.25660-71T>G Multiple submitters
  • c.26002-205C>T Multiple submitters
  • c.26153+18T>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2728-103G>T Multiple submitters
  • c.310-449A>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.310-613A>G Multiple submitters
  • c.3395+17C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.3504+23C>T Multiple submitters
  • c.3837+9G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.4008+16T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.4008+20G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.403-213C>A Multiple submitters
  • c.4149+14C>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.4461+14A>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.4977-18G>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.5101-11G>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.5101-169G>A Multiple submitters
  • c.581+17T>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.6231-12T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.6381+126A>G Multiple submitters
  • c.6382-11T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.6382-63A>G Multiple submitters
  • c.6541-135A>G Multiple submitters
  • c.67+8G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.6724-14T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.6825+145T>C Multiple submitters
  • c.6826-7T>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.7350+156A>C Multiple submitters
  • c.7713-17_7713-13dup Multiple submitters autosomal recessive ataxia, Beauce type
  • c.7713-19_7713-18insTTTTTTC Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.7713-26dup Multiple submitters
  • c.779-11T>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.8004+142G>A Multiple submitters
  • c.8177+150T>C Multiple submitters
  • c.8653-19T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.8653-84G>A Multiple submitters
  • c.9324+159C>T Multiple submitters
  • c.939+14A>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.939+226A>G Multiple submitters
  • c.939+99C>T Multiple submitters
  • c.9651+68A>T Multiple submitters
  • c.9972+77G>A Multiple submitters
  • c.9973-16G>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.-223-24T>G Multiple submitters
  • p.Ala1033= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala1299= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala2724= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala2848= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3263= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala5138= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala5404= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala5450= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala6092= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala6109= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala6121= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala6271= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala7275= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala787= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala7886= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg1885= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg3627Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg532= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg7713= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg81= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asn1029= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asn2144= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asn5870= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asn6721= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp260= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp2811= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp3889= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp4570= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp5024= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp5470= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp6203= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Asp6873= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Asp7517= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Cys1101= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Cys2998= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln2078= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln2579= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln4056= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln4231= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gln4492= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln4685= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gln4857= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu223= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu2325= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu2374= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Glu4133= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu4203= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu5170= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu7626= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu7849= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Glu8396= Multiple submitters
  • p.Gly2675= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Gly474= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Gly8326= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.His2589= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.His2850= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.His3645= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.His3913= Multiple submitters
  • p.His7436= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.His7955= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ile1081= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ile2531= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ile3278= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ile7775= Multiple submitters
  • p.Ile8759= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu1820= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu2897= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu3257= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu3326= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu3515= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu3990= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu4278= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu446= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu4758= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu4917= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu5169= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu6024= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu625= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu6807= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu7158= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu7700= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Leu7757= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Leu99= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Lys6736= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Lys7093= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Lys7629= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Pro1407= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Pro2271= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Pro4057= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Pro4701= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Pro5927= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Pro6210= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Pro7421= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Pro8364= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser1607= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser2147= Multiple submitters
  • p.Ser2406= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser289Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser3305= Multiple submitters
  • p.Ser4205Leu Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ser6327= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser7324= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser7697= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ser8236= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr1433= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr2174= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr2787= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr290= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Thr2911= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Thr2940= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr4013= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr4318Met Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr4456= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr6207= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Thr8362= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr2738= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Tyr3226= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr4145= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Tyr4992= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr530= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Tyr5389= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Tyr560= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Val2948= Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Val4584= Multiple submitters autosomal recessive ataxia, Beauce type
  • c.10145+117_10145+120del Single submitter
  • c.10145+117_10145+120dup Single submitter
  • c.10145+120_10145+121insCCTCCCTC Single submitter
  • c.10145+120_10145+121insCCTCCCTTCCTT Single submitter
  • c.10145+120_10145+121insCCTCCCTTCCTTCCTT Single submitter
  • c.10145+121TCCT[14] Single submitter
  • c.10146-12A>C Single submitter autosomal recessive ataxia, Beauce type
  • c.10146-18C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10146-19C>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10300-13A>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10300-195AC[14] Single submitter
  • c.10300-195AC[16] Single submitter
  • c.10300-195AC[17] Single submitter
  • c.10300-195AC[8] Single submitter
  • c.10300-6C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10443+17T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.10443+8A>G Single submitter
  • c.10444-27_10444-20del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1047+12A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1047+7T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1047+9T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.1048-4_1048-3del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1048-4T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1048-7del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10608+11C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10608+12T>A Single submitter autosomal recessive ataxia, Beauce type
  • c.10608+20A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10927-14C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.10927-18G>A Single submitter autosomal recessive ataxia, Beauce type
  • c.10927-19C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11082+14del Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11082+8G>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11083-19T>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11083-22A>T Single submitter
  • c.11083-4A>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11083-9C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11253+8C>T Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11254-142A>T Single submitter
  • c.11254-161A>T Single submitter
  • c.11254-237C>A Single submitter
  • c.11581-10G>T Single submitter
  • c.11581-19T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11581-20T>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11733+10G>T Single submitter autosomal recessive ataxia, Beauce type
  • c.1185+13A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1186-14T>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.1186-15C>A Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11902-13T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11902-14T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.11902-205A>T Single submitter
  • c.11902-21_11902-19dup Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12079-15A>T Single submitter autosomal recessive ataxia, Beauce type
  • c.12079-17T>C Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12079-228C>T Single submitter
  • c.12079-4T>C Single submitter autosomal recessive ataxia, Beauce type
  • c.12225+16A>C Single submitter autosomal recessive ataxia, Beauce type
  • c.12226-17A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12226-232A>G Single submitter
  • c.12226-9C>T Single submitter
  • c.12351+19A>G Single submitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.12351+303C>T Single submitter
  • c.12352-191dup Single submitter

Uncertain significance 3468

Showing the top 300 by review status; the full set is in the sitemap.

  • c.17203-5C>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.17995_17997delGAG Multiple submitters autosomal recessive ataxia, Beauce type
  • c.18573+3G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.19470+5G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.19893+5A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.19893+6T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.2098-3C>T Multiple submitters
  • c.21039+6C>G Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.21351+6A>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.22044+3A>G Multiple submitters
  • c.22044+9C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.22346+6G>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.225+5G>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.23145+6T>G Multiple submitters
  • c.24312+8C>G Multiple submitters autosomal recessive ataxia, Beauce type
  • c.25246+3G>A Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.310-469C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.3186+4C>T Multiple submitters autosomal recessive ataxia, Beauce type
  • c.3504+5G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • c.4789-3T>C Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.5421+5A>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.6382-3C>T Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • c.6724-3C>T Multiple submitters arthrogryposis multiplex congenita 3, myogenic type
  • c.888+4G>C Multiple submitters autosomal recessive ataxia, Beauce type
  • c.9807+6G>A Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala1166Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala1216Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala1631Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala1643Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala1649= Multiple submitters
  • p.Ala2046Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala2124Ser Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala219Val Multiple submitters ⚠
  • p.Ala2427Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala2492Asp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala2509Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala288Thr Multiple submitters arthrogryposis multiplex congenita 3, myogenic type ⚠
  • p.Ala288Val Multiple submitters SYNE1-related disorder ⚠
  • p.Ala2913Ser Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala2925Ser Multiple submitters arthrogryposis multiplex congenita 3, myogenic type ⚠
  • p.Ala3088Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala3140Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3150Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala3182Asn Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala3299Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala3371Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala3387Gly Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala3420Glu Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala3420Val Multiple submitters ⚠
  • p.Ala3547Thr Multiple submitters ⚠
  • p.Ala4000Glu Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala4008Asp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4019Val Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala4108Thr Multiple submitters ⚠
  • p.Ala4108Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4277Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4291Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala4368Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala4430Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala4461Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4677Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4718Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4729Val Multiple submitters ⚠
  • p.Ala4779Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4779Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala4822Glu Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala4854Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala4968Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala498Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala5076Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala5138Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5179Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5179Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5378Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5404Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala5438Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5450Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala5515Gly Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5515Thr Multiple submitters ⚠
  • p.Ala5796Asn Multiple submitters
  • p.Ala5886Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala5897Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala5920Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala592Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala6025Thr Multiple submitters ⚠
  • p.Ala6038Val Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala6219Pro Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala6372Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala6372Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala6529Val Multiple submitters ⚠
  • p.Ala6897Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala7055Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala7087Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala7165Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala7236Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala7335Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala7358Ser Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala7358Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala7407Thr Multiple submitters ⚠
  • p.Ala7635Val Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala7639Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala770Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala787Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Ala787Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala7902Thr Multiple submitters ⚠
  • p.Ala7959Thr Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala8168Asp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala8262Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Ala8330Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Ala8428Glu Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Ala8497Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala937Thr Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1044Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1062Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg1165Cys Multiple submitters ⚠
  • p.Arg1165His Multiple submitters ⚠
  • p.Arg1165Leu Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg1284Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg1315Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1326His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1334Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1334Gly Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg1365Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg1521Gln Multiple submitters distal myopathy ⚠
  • p.Arg1673Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg170Trp Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg1805Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg1805Trp Multiple submitters arthrogryposis multiplex congenita 3, myogenic type ⚠
  • p.Arg1961Lys Multiple submitters ⚠
  • p.Arg2011Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2011Pro Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2062Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2062His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg221= Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg2368Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg2368His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg236Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2380His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2435His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2596Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg2617Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2617Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2663Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2663Leu Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg2663Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2792His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg2798Gly Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg2896Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg2896His Multiple submitters
  • p.Arg2927Gly Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg2927His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3031Gly Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg314Ile Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3202His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3379His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg3399Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3423Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3492Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3533Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3533Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg355Gly Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3570Pro Multiple submitters
  • p.Arg3570Trp Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg3576Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3661Gly Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3768Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg3805Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg3979Gly Multiple submitters ⚠
  • p.Arg3979His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg3979Ser Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg4041Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4159Lys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg4223His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4238Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4324Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg4324His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4420Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg444Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4479Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg4479His Multiple submitters SYNE1-related disorder ⚠
  • p.Arg4518His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4553Trp Multiple submitters ⚠
  • p.Arg4650Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg468Trp Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg470Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4764Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4769Lys Multiple submitters ⚠
  • p.Arg4855Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg4895Cys Multiple submitters ⚠
  • p.Arg4982His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg4984Thr Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg4997Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5087Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5194Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5196Pro Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5272Trp Multiple submitters SYNE1-related disorder ⚠
  • p.Arg5303Pro Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5325Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5410Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5518Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5563Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5563Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5672Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg5697Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5721Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg5880Leu Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg5942His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg5956Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg5Gly Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg6065Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg617Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6220His Multiple submitters ⚠
  • p.Arg6220Ser Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6227Leu Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6249Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6254Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6254His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6400His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6475Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg648Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6546His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6577Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg6728Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg6728His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg677His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6817Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6817Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6836Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg6836His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg6868Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6878Cys Multiple submitters
  • p.Arg6883Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg6883His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg6913Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg6913His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg6986His Multiple submitters Inborn genetic diseases
  • p.Arg7044Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7157Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7261Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg7435His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7507Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg7507His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7520Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7520His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7549Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7549His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7555Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7563His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg7576His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg7616Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7660Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7713Cys Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg7713His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg7753His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7924Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg7978Gln Multiple submitters Inborn genetic diseases
  • p.Arg7979Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg7990Lys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8010Cys Multiple submitters
  • p.Arg8010His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8064His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8071Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8071His Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8095Cys Multiple submitters
  • p.Arg8101Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8117Gln Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg81Cys Multiple submitters arthrogryposis multiplex congenita 3, myogenic type ⚠
  • p.Arg81His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8202His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8212Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8212His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8243Cys Multiple submitters ⚠
  • p.Arg8243His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8269Leu Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8269Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg82Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg82Trp Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8319Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8336Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8357Cys Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8420Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg843His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8495His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8518Trp Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8523His Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8530His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8542Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg85Gln Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8641Gln Multiple submitters arthrogryposis multiplex congenita 3, myogenic type
  • p.Arg8641Trp Multiple submitters
  • p.Arg8651Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠
  • p.Arg8651His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg8718Gly Multiple submitters arthrogryposis multiplex congenita 3, myogenic type
  • p.Arg8735Leu Multiple submitters arthrogryposis multiplex congenita 3, myogenic type ⚠
  • p.Arg8738fs Multiple submitters autosomal recessive ataxia, Beauce type
  • p.Arg8738His Multiple submitters autosomal recessive ataxia, Beauce type ⚠
  • p.Arg8746Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8782Gln Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant
  • p.Arg8782Gly Multiple submitters
  • p.Arg927Cys Multiple submitters Emery-Dreifuss muscular dystrophy 4, autosomal dominant ⚠