Sugi Variant

Sugi Variant/CCDC78

CCDC78 — 662 ClinVar variants

All ClinVar germline CCDC78 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →

39 Conflicting · 34 Benign · 17 Benign/Likely benign · 244 Likely benign · 328 Uncertain significance

Full CCDC78 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 288

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 agree, ClinVar conflicts 27

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 157

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 157

Predictors split 104

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

All CCDC78 variants

Conflicting classifications of pathogenicity 39

  • c.1134-19C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.267+3G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala325Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala37Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala414Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala52Val Single submitter Inborn genetic diseases ⚠
  • p.Arg10Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg123Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg179Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg198Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg198Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg207Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg231Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg393Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg405Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg407Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg443= Single submitter
  • p.Asn156Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn322Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln158Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln425= Single submitter Inborn genetic diseases ⚠
  • p.Glu128Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu228Ala Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu289Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu82Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly353Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly368Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly8Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His142Arg Single submitter Inborn genetic diseases ⚠
  • p.His159Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His437Gln Single submitter Inborn genetic diseases ⚠
  • p.Phe144Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro122Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser298Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr185Met Single submitter Inborn genetic diseases ⚠
  • p.Trp252Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Tyr427= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Val244Ile Single submitter Inborn genetic diseases ⚠
  • p.Val66Ile Single submitter Inborn genetic diseases ⚠

Benign 34

  • c.1054-62G>A Multiple submitters
  • c.1054-63C>A Multiple submitters
  • c.1134-131del Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.1134-160dup Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.1134-180C>T Multiple submitters
  • c.1134-206C>A Multiple submitters
  • c.1302-53A>G Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.1302-59G>A Multiple submitters
  • c.180+11G>T Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.180+12G>T Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.180+19C>G Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.268-25C>T Multiple submitters
  • c.60+69G>A Multiple submitters
  • c.766-11G>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.766-9C>T Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.953+10G>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.-226+175G>T Multiple submitters
  • c.-32C>T Multiple submitters
  • c.*78T>G Multiple submitters
  • p.Leu183= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Leu313= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Trp252Arg Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.1053+12G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1053+20G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1053+43_1053+60del Single submitter
  • c.1134-172G>A Single submitter
  • c.180+14C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.267+11G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+15del Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala261Thr Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.His352= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro14= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro366= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val428Met Single submitter congenital myopathy with internal nuclei and atypical cores

Benign/Likely benign 17

  • c.1134-9C>T Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.1302-8C>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.180+11_180+12delinsTT Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.492+1G>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.493-16C>T Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg246Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg297Cys Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg397Cys Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg397His Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg413Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Asn20= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Gly164= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Gly164Ser Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Leu306= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Lys238Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Thr268Met Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Trp252Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores

Likely benign 244

  • c.1133+7G>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.1301+55G>A Multiple submitters
  • c.268-74T>C Multiple submitters
  • c.639+52G>C Multiple submitters
  • c.-226+151C>G Multiple submitters
  • c.-226+192T>G Multiple submitters
  • c.-226+335T>G Multiple submitters
  • p.Arg103Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg192Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg309= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg348= Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg348Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg413Trp Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg441= Multiple submitters
  • p.Thr415= Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • c.1053+13A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1053+18C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1053+18C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1053+8T>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-14A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-15C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-16C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-19C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-20C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-7T>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+10C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+13A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+14T>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+14T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+16G>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+1G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1134-12C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1134-14C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1134-15C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1134-16T>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1134-20C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1134-7C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+10_1200+15del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+10A>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+12G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+12G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+14del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+18G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+9C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1201-11C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1201-14C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1201-15A>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1201-1G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1201-7A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1301+10G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1301+12G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1301+14G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1302-10C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1302-11C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1302-19G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1302-19G>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.180+10G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.180+14C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.180+19C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.180+20G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.180+9G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.181-10C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.181-14C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.267+10C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.267+20A>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.268-19C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.268-19C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.268-7C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+13A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+13AT[3] Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+14_435+17dup Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+17G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+17G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+19A>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+8T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-11C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-12C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-12C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-15C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-8C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.492+10C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.492+13C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.492+17C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.492+20G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.493-13G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.493-19_493-16del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.493-8C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.560+11A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.560+16A>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.560+17C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.561-10G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.561-15C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.561-19C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.561-6C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.561-9T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.60+20C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-13G>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-14C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-4C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-8C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.639+13C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.639+17_639+20del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.639+21C>T Single submitter
  • c.640-11T>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.640-13G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.640-17G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.640-18G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.640-5C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+10G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+11C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+13G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+17C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+19C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+7C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+7C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+8C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.765+9T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.766-14C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.766-19C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.766-8G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+19G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+20del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+9C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.954-5G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.*18AGAGC[5] Single submitter
  • p.Ala172= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala201Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala204= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala266= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala276= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala276Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala284= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala325= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala4= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala5= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala52= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg123= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg16Gln Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg17= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg179= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg186= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg223= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg223His Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg231Gln Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg271Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg282= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg286Cys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg294= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg302= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg308= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg405Trp Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg407Trp Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg413Gly Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg96= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Asn229= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Asp280= Single submitter
  • p.Asp381= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Asp394= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Asp67Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Cys216= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Cys250= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln147= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln158= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln195= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln378= Single submitter Inborn genetic diseases
  • p.Gln430Glu Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln430Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu101= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu116= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu128= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu242= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu279= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu335= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu418Lys Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu426Lys Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu438Lys Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu77= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu80= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu94= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu99= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly110= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly205= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly260= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly34= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly353= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly372= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly379= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly447= Single submitter
  • p.His257= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.His3= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.His73= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ile61Met Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ile83= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu100= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu102= Single submitter
  • p.Leu194= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu208= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu215= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu222= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu239= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu247= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu270= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu274= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu278= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu332= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu337= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu358= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu403= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu53= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu65= Single submitter
  • p.Leu86= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu91= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu93= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu98= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Lys436Glu Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Lys87= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Phe144= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Phe84= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro154= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro323= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro338= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro340= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro355= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Pro48= Single submitter
  • p.Ser108= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ser163= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ser287= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ser361= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ser370= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ser62= Single submitter
  • p.Thr185= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Thr189= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Thr267= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Thr268= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Thr277= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Tyr243= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Tyr427His Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val113= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val146= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val184= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val214= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val244= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val47= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Val66= Single submitter congenital myopathy with internal nuclei and atypical cores

Uncertain significance 328

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

  • c.1053+1G>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.268-3C>T Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • c.61-1G>A Multiple submitters CCDC78-related disorder
  • c.953+1G>A Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Ala126Val Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala188Ser Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala227Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala251Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala258Thr Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala284Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala382Thr Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg123Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg130Lys Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg16Gly Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg17Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg186His Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg192Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg231Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg246Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg24Ter Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Arg282Gln Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg282Gly Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg282Trp Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg288Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg288His Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg288Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg297His Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg308His Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg434Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg92Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg96Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asp241Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp280Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln253Arg Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln371fs Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Gln57Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu312Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu335Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu80Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly356Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly35Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly372Arg Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly379Asp Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His175Asp Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His310Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His347Tyr Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His73Tyr Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ile90Thr Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu236Phe Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu292fs Multiple submitters CCDC78-related disorder
  • p.Leu392Phe Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu440Pro Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Leu51Val Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu65Val Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys237Asn Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Met416Thr Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Phe395Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro320Leu Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Thr151Ile Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Thr6fs Multiple submitters congenital myopathy with internal nuclei and atypical cores
  • p.Thr7Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val146Leu Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Val21Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val339Met Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Val412Gly Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Val66Gly Multiple submitters congenital myopathy with internal nuclei and atypical cores ⚠
  • c.1053+5G>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-3T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1054-9C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+2T>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+3G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1133+5G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1200+14_1200+18del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1301+2T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1302-1G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.1302-2_1302-1insC Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.180+3G>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.267+1G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.267+1G>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.268-2_272del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.435+7A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-2A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.436-7C>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.492+14C>T Single submitter
  • c.492+6T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.560_560+3del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.60+2T>C Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.60+3G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-13G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-16G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-2A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.61-6C>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.639+4A>G Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.763_765+5del Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+3G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+4G>A Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.953+6C>T Single submitter congenital myopathy with internal nuclei and atypical cores
  • c.954-8C>A Single submitter CCDC78-related disorder
  • p.233QL[3] Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala124Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala172Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala172Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala182Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala201Val Single submitter Inborn genetic diseases ⚠
  • p.Ala204Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala227Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala230Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala251Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala254Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala25Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala25Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala261Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala264Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala269fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala295Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala295Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala296Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala296Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala316Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala319Lys Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ala32Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala357Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala357Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala369Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala369Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala4Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala5Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ala5Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg103Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg10Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg123Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg16fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg16Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg16Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg179Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg17Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg17Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg17Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg186Cys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg198Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg202Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg207Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg207Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg223Cys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg223Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg231Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg246Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg24Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg271Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg282fs Single submitter
  • p.Arg286Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg286His Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg294Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg294Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg308Asp Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg318= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Arg348Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg348Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg393Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg393Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg397Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg92Leu Single submitter ⚠
  • p.Arg92Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Arg96Trp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asn156Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp141Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp259Glu Single submitter ⚠
  • p.Asp27Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp305Tyr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp333Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp394Asn Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp394Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp429= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Asp67Asn Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln109His Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln109Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln109Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln127Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln134= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln134fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln145Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln147Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln166His Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln176Glu Single submitter ⚠
  • p.Gln180Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln206Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln224Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln324fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln351= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gln351Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln371His Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln60Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gln85Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu155Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu168Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu168Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu200Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu226Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu242Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu256Gly Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu311Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu376Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu426= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu426_Val428del Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu426Ala Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu426Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu77Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu89= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Glu89Lys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Glu94Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly104Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly104Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly110Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly110Cys Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly110Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly110Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly12Ter Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly137Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly167Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly191_Leu194del Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Gly205Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly220Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly260Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly34Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly354Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly356Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly35Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly367Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly368Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly373Ala Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly433= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Gly433Asp Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His121Gln Single submitter Inborn genetic diseases ⚠
  • p.His142fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.His159= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.His257Gln Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His257Tyr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His300del Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.His310Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His431Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His437= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.His74Tyr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ile281Asn Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ile329Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ile83Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu102_Arg103insGluLeu Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu129Ile Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu165= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu173Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu183Arg Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu183Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu208Met Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu208Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu236Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu247Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu359Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu410= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu410Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu411= Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Leu432= Single submitter Inborn genetic diseases ⚠
  • p.Leu75Pro Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Leu86Val Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys170Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys170fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Lys170Met Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys301Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys364fs Single submitter
  • p.Lys364Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys391Asn Single submitter ⚠
  • p.Lys436= Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys436Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys55Asn Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Lys87Glu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Met152Ile Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Met1Thr Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Met1Val Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Met416Ile Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Phe345Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Phe84Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro114Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro114Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro119Arg Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro119His Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro11Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro122Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro136Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro136Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro14Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro154Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro320Ser Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro336Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro338Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro340Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro49Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro9Leu Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Pro9Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser139Phe Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ser163fs Single submitter congenital myopathy with internal nuclei and atypical cores
  • p.Ser287Asn Single submitter congenital myopathy with internal nuclei and atypical cores ⚠
  • p.Ser287Thr Single submitter congenital myopathy with internal nuclei and atypical cores ⚠