MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:10970
Name:Sarcoglycanopathies
Definition:Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Alternative IDs:OMIM:608099
ParentIDs:MESH:D009202|MESH:D012120|MESH:D049288
TreeNumbers:C05.651.534.500.280.500 |C08.618.923 |C10.668.491.175.500.149.500 |C14.280.238.812 |C16.320.577.280.500
Synonyms:Adhalinopathies |Adhalinopathies, Primary |Adhalinopathy, Primary |Alpha Sarcoglycanopathies |Alpha-Sarcoglycanopathies |Alpha Sarcoglycanopathy |Alpha-Sarcoglycanopathy |DMDA2 |Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2 |Duchenne-Like Autosomal
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease
Reference: MedGen: D058088
MeSH: D058088
OMIM: 608099;
MSeqDR LSDB:  
Genes: SGCA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0008981Calf muscle hypertrophy
4 HP:0001638CardiomyopathyHP:0040283
5 HP:0003236Elevated serum creatine phosphokinase
6 HP:0003458EMG: myopathic abnormalities
7 HP:0001371Flexion contracture
8 HP:0003797Limb-girdle muscle atrophy
9 HP:0003325Limb-girdle muscle weakness
10 HP:0006785Limb-girdle muscular dystrophy
11 HP:0003676Progressive
12 HP:0002650ScoliosisHP:0040283
13 HP:0002317Unsteady gait
14 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000017.10:g.(?_48243138)_(48245027_?)del6442SGCAPathogenic-1RCV001941832; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824313848245027nana-1-
NC_000017.10:g.(?_48243336)_(48253303_?)del6442SGCAPathogenic-1RCV001951299; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824333648253303nana-1-
NM_000023.4(SGCA):c.-1_9del (p.Met1fs)6442SGCALikely pathogenicrs1057517107RCV000411207; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824340148243410CCATGGCTGAGCNC_000017.10:g.48243401_48243410delClinGen:CA16041846C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NC_000017.10:g.(?_48243402)_(48278874_?)dup6442SGCAUncertain significance-1RCV001879158; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824340248278874nana-1-
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)6442SGCAUncertain significance-1RCV001981335; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824341448243414CG48243414-
NM_000023.4(SGCA):c.18C>T (p.Phe6=)6442SGCALikely benign-1RCV002079290; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824341948243419CT48243419-
NM_000023.4(SGCA):c.26dup (p.Leu10fs)6442SGCAPathogenicrs1904771410RCV001046661; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824342548243426TTC17:g.48243425_48243426insC-
NM_000023.4(SGCA):c.33C>T (p.Leu11=)6442SGCAConflicting interpretations of pathogenicityrs762704751RCV000876036|RCV001772164; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824343448243434CT17:g.48243434C>T-
NM_000023.4(SGCA):c.34G>A (p.Val12Met)6442SGCAUncertain significancers766209304RCV000294427|RCV001044076; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824343548243435GA17:g.48243435G>AClinGen:CA8643645CN169374 not specified;
NM_000023.4(SGCA):c.37+1G>C6442SGCALikely pathogenic-1RCV001377955; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824343948243439GC48243439-
NM_000023.4(SGCA):c.37+3A>G6442SGCAUncertain significancers1370709181RCV000520514|RCV001271890; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824344148243441AGNC_000017.10:g.48243441A>GClinGen:CA626485333
NM_000023.4(SGCA):c.37+6T>C6442SGCAUncertain significancers751466815RCV000369531|RCV000558391; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824344448243444TC17:g.48243444T>CClinGen:CA8643646C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.37+8G>A6442SGCALikely benignrs754950929RCV000979829; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824344648243446GA17:g.48243446G>A-
NM_000023.4(SGCA):c.37+9G>T6442SGCALikely benign-1RCV001394467; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824344748243447GT48243447-
NM_000023.4(SGCA):c.37+10G>T6442SGCAConflicting interpretations of pathogenicityrs200626376RCV000731703|RCV001086847; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824344848243448GTNC_000017.10:g.48243448G>T-
NM_000023.4(SGCA):c.37+17T>A6442SGCALikely benign-1RCV002075222; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824345548243455TA48243455-
NM_000023.4(SGCA):c.37+23G>A6442SGCABenign/Likely benignrs79410682RCV000244513|RCV000713236|RCV001527112; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824346148243461GA17:g.48243461G>AClinGen:CA8643656CN169374 not specified;
NM_000023.4(SGCA):c.37+66C>T6442SGCABenignrs9911548RCV000828941|RCV001527113; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824350448243504CT17:g.48243504C>T-
NM_000023.4(SGCA):c.38-10G>A6442SGCALikely benign-1RCV002209779; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824471948244719GA48244719-
NM_000023.4(SGCA):c.38-8C>T6442SGCALikely benign-1RCV001437245; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824472148244721CT48244721-
NM_000023.4(SGCA):c.38-7C>T6442SGCALikely benignrs769272010RCV000929497; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824472248244722CT17:g.48244722C>T-
NM_000023.4(SGCA):c.45G>C (p.Leu15=)6442SGCALikely benign-1RCV001499969; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824473648244736GC48244736-
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)6442SGCAUncertain significancers573792379RCV000648062|RCV001288754; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824474048244740GANC_000017.10:g.48244740G>AClinGen:CA8643683C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.52C>G (p.Leu18Val)6442SGCAUncertain significancers1555568100RCV000539687; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824474348244743CG17:g.48244743C>GClinGen:CA400176338C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.57G>A (p.Gly19=)6442SGCALikely benign-1RCV002192257; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824474848244748GA48244748-
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)6442SGCAConflicting interpretations of pathogenicityrs759284746RCV000528429|RCV000852721; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247174824474948244749GA17:g.48244749G>AClinGen:CA8643685C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)6442SGCAUncertain significancers759284746RCV000729954|RCV001855744; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824474948244749GTNC_000017.10:g.48244749G>T-
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs)6442SGCALikely pathogenic-1RCV001582428; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824475248244753AAG48244752-
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)6442SGCAConflicting interpretations of pathogenicityrs199804735RCV000252821|RCV000726346|RCV002057276; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824475348244753CT17:g.48244753C>TClinGen:CA8643686CN169374 not specified;
NM_000023.4(SGCA):c.63C>T (p.Thr21=)6442SGCALikely benignrs775361706RCV000648063; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824475448244754CTNC_000017.10:g.48244754C>TClinGen:CA8643687C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys)6442SGCAUncertain significancers753784732RCV001241464; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824475548244755GA17:g.48244755G>A-
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)6442SGCAPathogenic-1RCV001380121; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824476148244761CT48244761-
NM_000023.4(SGCA):c.72G>A (p.Gln24=)6442SGCALikely benign-1RCV002120113; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824476348244763GA48244763-
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)6442SGCAConflicting interpretations of pathogenicityrs565069721RCV000328161|RCV001083421|RCV001128409; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824477148244771CT17:g.48244771C>TClinGen:CA8643689CN169374 not specified;
NM_000023.4(SGCA):c.81G>A (p.Thr27=)6442SGCALikely benign-1RCV001397650; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824477248244772GA48244772-
NM_000023.4(SGCA):c.82C>T (p.Leu28=)6442SGCALikely benign-1RCV001394462; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824477348244773CT48244773-
NM_000023.4(SGCA):c.86dup (p.His29fs)6442SGCAPathogenicrs1904986620RCV001067642; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824477648244777CCA17:g.48244776_48244777insA-
NM_000023.4(SGCA):c.86A>T (p.His29Leu)6442SGCALikely pathogenicrs1387802849RCV000786065; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824477748244777AT17:g.48244777A>T-
NM_000023.4(SGCA):c.87C>T (p.His29=)6442SGCALikely benignrs757371081RCV000878893|RCV001470991; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824477848244778CT17:g.48244778C>T-
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser)6442SGCAUncertain significancers1327595249RCV000531212; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824477948244779CTNC_000017.10:g.48244779C>TClinGen:CA400176582C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.90A>G (p.Pro30=)6442SGCALikely benignrs754840688RCV000909896; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824478148244781AG17:g.48244781A>G-
NM_000023.4(SGCA):c.90A>C (p.Pro30=)6442SGCALikely benign-1RCV001488576; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824478148244781AC48244781-
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)6442SGCAPathogenic/Likely pathogenicrs903823830RCV000665054; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824478348244783TC17:g.48244783T>C-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.93T>G (p.Leu31=)6442SGCALikely benign-1RCV002089095; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824478448244784TG48244784-
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)6442SGCAPathogenic-1RCV001963134; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824478648244786TC48244786-
NM_000023.4(SGCA):c.99C>T (p.Gly33=)6442SGCALikely benign-1RCV001466096; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824479048244790CT48244790-
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)6442SGCAPathogenic/Likely pathogenicrs758647756RCV000201165|RCV000493338; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824479148244791CTNC_000017.10:g.48244791C>TClinGen:CA210084,UniProtKB:Q16586#VAR_010404
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser)6442SGCALikely pathogenic-1RCV002019675; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824479148244791CA48244791-
NM_000023.4(SGCA):c.101G>A (p.Arg34His)6442SGCAPathogenicrs371675217RCV000077936|RCV000169164; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824479248244792GA17:g.48244792G>AClinGen:CA199071,UniProtKB:Q16586#VAR_010405C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.105del (p.Phe36fs)6442SGCAPathogenic-1RCV002002557; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824479648244796TCT48244795-
NM_000023.4(SGCA):c.106T>G (p.Phe36Val)6442SGCAUncertain significancers1904989565RCV001305064; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824479748244797TG48244797-
NM_000023.4(SGCA):c.108T>C (p.Phe36=)6442SGCALikely benign-1RCV002204506; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824479948244799TC48244799-
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)6442SGCAUncertain significancers540292629RCV001000875; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824480648244806AG17:g.48244806A>G-
NM_000023.4(SGCA):c.118T>C (p.Leu40=)6442SGCALikely benignrs1598264597RCV000932728|RCV001445393; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824480948244809TC17:g.48244809T>C-
NM_000023.4(SGCA):c.129G>A (p.Glu43=)6442SGCALikely benign-1RCV001416722; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824482048244820GA48244820-
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)6442SGCAUncertain significancers770516658RCV001340209; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824482248244822CT48244822-
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)6442SGCAPathogenic-1RCV001981888; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824482248244823CCGTTT48244822-
NM_000023.4(SGCA):c.132G>A (p.Thr44=)6442SGCAConflicting interpretations of pathogenicityrs886044035RCV000268752|RCV001454241; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824482348244823GA17:g.48244823G>AClinGen:CA10606260CN169374 not specified;
NM_000023.4(SGCA):c.141C>T (p.Ser47=)6442SGCALikely benign-1RCV001442740; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824483248244832CT48244832-
NM_000023.4(SGCA):c.147T>C (p.Pro49=)6442SGCALikely benignrs745447270RCV000600861|RCV002063862; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824483848244838TC17:g.48244838T>CClinGen:CA8643700CN169374 not specified;
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)6442SGCAUncertain significancers148132791RCV000274468|RCV000693652; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824484648244846TG17:g.48244846T>GClinGen:CA8643701C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)6442SGCAConflicting interpretations of pathogenicityrs60407644RCV000298182|RCV000544017; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824484848244848GA17:g.48244848G>AClinGen:CA8643703C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.157+1G>A6442SGCAPathogenicrs113109898RCV001050871; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824484948244849GA17:g.48244849G>A-
NM_000023.4(SGCA):c.157+7G>A6442SGCALikely benign-1RCV001472450; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824485548244855GA48244855-
NM_000023.4(SGCA):c.158-12C>T6442SGCALikely benign-1RCV002195626; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824493148244931CT48244931-
NM_000023.4(SGCA):c.158-11G>A6442SGCAConflicting interpretations of pathogenicityrs140261054RCV000383595|RCV001718677|RCV002056609; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824493248244932GANC_000017.10:g.48244932G>AClinGen:CA8643719C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.158-10C>G6442SGCAConflicting interpretations of pathogenicityrs746675022RCV000289214|RCV001427583; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824493348244933CGNC_000017.10:g.48244933C>GClinGen:CA8643721C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.158-7C>T6442SGCALikely benign-1RCV002198848; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824493648244936CT48244936-
NM_000023.4(SGCA):c.158-4C>A6442SGCALikely benignrs776411719RCV000247548|RCV001493249|RCV001537805; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824493948244939CA17:g.48244939C>AClinGen:CA8643723CN169374 not specified;
NM_000023.4(SGCA):c.158-2A>G6442SGCALikely pathogenicrs1057516300RCV000409677; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824494148244941AGNC_000017.10:g.48244941A>GClinGen:CA16041847C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.160G>A (p.Val54Ile)6442SGCAUncertain significance-1RCV001579255; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824494548244945GA48244945-
NM_000023.4(SGCA):c.168C>T (p.Pro56=)6442SGCALikely benign-1RCV002219621; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824495348244953CT48244953-
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)6442SGCAUncertain significancers769778891RCV000756634|RCV001276708; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824495448244954GANC_000017.10:g.48244954G>A-
NM_000023.4(SGCA):c.171T>C (p.Ala57=)6442SGCALikely benign-1RCV001436904; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824495648244956TC48244956-
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)6442SGCAUncertain significancers141953249RCV000593466|RCV001245320; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824495748244957GC17:g.48244957G>CClinGen:CA8643728CN169374 not specified;
NM_000023.4(SGCA):c.174C>T (p.Val58=)6442SGCALikely benign-1RCV002151107; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824495948244959CT48244959-
NM_000023.4(SGCA):c.177C>T (p.His59=)6442SGCALikely benign-1RCV001486098; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824496248244962CT48244962-
NM_000023.4(SGCA):c.183C>T (p.Thr61=)6442SGCALikely benign-1RCV001450435; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824496848244968CT48244968-
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)6442SGCAPathogenicrs766400853RCV000706234; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824497148244971CGNC_000017.10:g.48244971C>G-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.187C>T (p.His63Tyr)6442SGCAUncertain significance-1RCV001361257; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824497248244972CT48244972-
NM_000023.4(SGCA):c.189C>T (p.His63=)6442SGCAConflicting interpretations of pathogenicityrs373770886RCV000595699|RCV000726733|RCV001087381; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824497448244974CT17:g.48244974C>TClinGen:CA8643730C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)6442SGCAUncertain significancers759692350RCV000274092|RCV001859727; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824497548244975GA17:g.48244975G>AClinGen:CA8643731CN169374 not specified;
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu)6442SGCAUncertain significance-1RCV001875342; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824498448244984CG48244984-
NM_000023.4(SGCA):c.203del (p.Gly68fs)6442SGCAPathogenicrs1567739228RCV000729862|RCV001862188; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824498648244986AGANC_000017.10:g.48244988del-
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)6442SGCAUncertain significance-1RCV001360645; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824498848244988GA48244988-
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser)6442SGCAUncertain significance-1RCV001884413; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824499348244993CT48244993-
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg)6442SGCALikely pathogenicrs1555568318RCV000499843; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824499448244994CG17:g.48244994C>GClinGen:CA400177397C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.220del (p.Arg74fs)6442SGCALikely pathogenicrs1555568325RCV000670790; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824500248245002GCG17:g.48245002_48245002del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)6442SGCAPathogenic/Likely pathogenicrs757888349RCV000169146; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824500548245005CT17:g.48245005C>TClinGen:CA199069,UniProtKB:Q16586#VAR_010408C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)6442SGCAUncertain significancers779439298RCV000702946; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824500648245006GANC_000017.10:g.48245006G>A-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro)6442SGCALikely pathogenic-1RCV002002976; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824500648245006GC48245006-
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)6442SGCAPathogenic/Likely pathogenicrs1555568335RCV000498091|RCV001824141; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824501148245011CTNC_000017.10:g.48245011C>TClinGen:CA400177503
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)6442SGCAPathogenicrs28933693RCV000010044|RCV000077937|RCV000779225|RCV001813971; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745174824501448245014CT17:g.48245014C>TClinGen:CA120427,UniProtKB:Q16586#VAR_010387,OMIM:600119.0003C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.231C>A (p.Arg77=)6442SGCALikely benign-1RCV002076755; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824501648245016CA48245016-
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)6442SGCAPathogenicrs1598265248RCV000792267; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824501848245019ACGANC_000017.10:g.48245018_48245019delinsGA-
NM_000023.4(SGCA):c.234C>T (p.Tyr78=)6442SGCALikely benign-1RCV002088352; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824501948245019CT48245019-
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)6442SGCAPathogenicrs1567739339RCV000705167; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824502148245022CCANC_000017.10:g.48245021_48245022insA-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)6442SGCAPathogenic-1RCV001917918; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824502348245023CT48245023-
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu)6442SGCAUncertain significance-1RCV002041654; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824502348245023CG48245023-
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)6442SGCAConflicting interpretations of pathogenicityrs398123098RCV000077938|RCV001854369; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824502648245026CT17:g.48245026C>TClinGen:CA220233CN169374 not specified;
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser)6442SGCAUncertain significance-1RCV001930566; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824502648245026CA48245026-
NM_000023.4(SGCA):c.242G>A (p.Arg81His)6442SGCAUncertain significancers747984529RCV000733070|RCV001830630; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824502748245027GANC_000017.10:g.48245027G>A-
NM_000023.4(SGCA):c.245del (p.Ser82fs)6442SGCAPathogenic-1RCV001784966; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824503048245030AGA48245029-
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)6442SGCAConflicting interpretations of pathogenicityrs1598265282RCV001004937|RCV001814253; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745174824503148245031CA17:g.48245031C>A-
NM_000023.4(SGCA):c.246C>T (p.Ser82=)6442SGCALikely benign-1RCV002125525; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824503148245031CT48245031-
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu)6442SGCAUncertain significance-1RCV001907935; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824504248245042CT48245042-
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)6442SGCAUncertain significancers773161308RCV000816168; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824505048245050CT17:g.48245050C>T-
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)6442SGCAConflicting interpretations of pathogenicityrs749205073RCV000726389|RCV001088247; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824505548245055CTNC_000017.10:g.48245055C>TClinGen:CA8643741
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)6442SGCAUncertain significancers890921874RCV000648059; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824505648245056GT17:g.48245056G>TClinGen:CA291536150C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)6442SGCAUncertain significancers1555568383RCV000668953; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824506348245068GCCACCCG17:g.48245063_48245068del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.284C>G (p.Pro95Arg)6442SGCAUncertain significancers1905033797RCV001320984; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824506948245069CG48245069-
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del)6442SGCAUncertain significancers1555568389RCV000666292; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824507048245072CAGAC17:g.48245070_48245072del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.289G>C (p.Asp97His)6442SGCAUncertain significancers774299871RCV001221207; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824507448245074GC17:g.48245074G>C-
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)6442SGCALikely pathogenicrs1555568396RCV000664601; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824507548245075AG17:g.48245075A>G-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)6442SGCAPathogenic/Likely pathogenicrs138945081RCV000309945|RCV000485521; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824507748245077CT17:g.48245077C>TClinGen:CA8643744,UniProtKB:Q16586#VAR_010413C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly)6442SGCAUncertain significancers138945081RCV000705659; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824507748245077CGNC_000017.10:g.48245077C>G-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.293G>A (p.Arg98His)6442SGCAPathogenic/Likely pathogenicrs137852621RCV000010042|RCV000725507; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824507848245078GA17:g.48245078G>AClinGen:CA120423,UniProtKB:Q16586#VAR_010388,OMIM:600119.0001C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)6442SGCAConflicting interpretations of pathogenicityrs137852621RCV000280379|RCV001379322; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824507848245078GC17:g.48245078G>CClinGen:CA10604429CN169374 not specified;
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)6442SGCAUncertain significancers1266940329RCV001235481; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824508948245089GA17:g.48245089G>A-
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)6442SGCAConflicting interpretations of pathogenicityrs370819630RCV000277867|RCV000725508|RCV001122686; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824509248245092AG17:g.48245092A>GClinGen:CA8643746C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)6442SGCAConflicting interpretations of pathogenicityrs1161291343RCV000671951; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824509348245093TC17:g.48245093T>C-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.312G>A (p.Glu104=)6442SGCAUncertain significancers886044401RCV000327195|RCV001850462; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824509748245097GA17:g.48245097G>AClinGen:CA10606710CN169374 not specified;
NM_000023.4(SGCA):c.312+1G>A6442SGCALikely pathogenic-1RCV002041840; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824509848245098GA48245098-
NM_000023.4(SGCA):c.312+1G>C6442SGCALikely pathogenic-1RCV002003503; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824509848245098GC48245098-
NM_000023.4(SGCA):c.312+5C>T6442SGCAUncertain significancers377006294RCV000814177|RCV001122687; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824510248245102CT17:g.48245102C>T-
NM_000023.4(SGCA):c.312+6G>A6442SGCAUncertain significancers371433770RCV000591192|RCV001061536; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824510348245103GA17:g.48245103G>AClinGen:CA8643749CN169374 not specified;
NM_000023.4(SGCA):c.312+10G>A6442SGCALikely benign-1RCV001951163; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824510748245107GA48245107-
NM_000023.4(SGCA):c.312+19A>C6442SGCALikely benignrs527959287RCV000426975|RCV002063398; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824511648245116AC17:g.48245116A>CClinGen:CA8643754CN169374 not specified;
NM_000023.4(SGCA):c.312+83C>T6442SGCABenignrs2696297RCV000828943|RCV001527114; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824518048245180CT17:g.48245180C>T-
NM_000023.4(SGCA):c.313-39C>A6442SGCABenignrs59944537RCV000252521|RCV000832018|RCV001527115; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824526948245269CANC_000017.10:g.48245269C>AClinGen:CA8643764CN169374 not specified;
NM_000023.4(SGCA):c.313-10C>T6442SGCAConflicting interpretations of pathogenicityrs569744194RCV000178023|RCV001086455; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824529848245298CT17:g.48245298C>TClinGen:CA245049C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.313-5C>T6442SGCALikely benign-1RCV002084846; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824530348245303CT48245303-
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)6442SGCAPathogenic/Likely pathogenic-1RCV000666187; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824530448245311CCAGGTCAC17:g.48245305_48245311del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.313-4C>T6442SGCALikely benign-1RCV002154837; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824530448245304CT48245304-
NM_000023.4(SGCA):c.313-3C>T6442SGCAUncertain significancers1905060607RCV001037427; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824530548245305CT17:g.48245305C>T-
NM_000023.4(SGCA):c.313-2A>G6442SGCALikely pathogenicrs1057516650RCV000410516; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824530648245306AG17:g.48245306A>GClinGen:CA16041848C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)6442SGCAConflicting interpretations of pathogenicityrs186669379RCV000178022|RCV000344242; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824531548245315CT17:g.48245315C>TClinGen:CA245046C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)6442SGCAPathogenic/Likely pathogenicrs1555568518RCV000648060|RCV000592869; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824531648245317CCTACA17:g.48245316_48245317insTACAClinGen:CA10606357C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)6442SGCAConflicting interpretations of pathogenicityrs200137051RCV000077939|RCV000391706|RCV000852722|RCV001437168; NMedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824532348245323CT17:g.48245323C>TClinGen:CA220236C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)6442SGCAConflicting interpretations of pathogenicityrs145697858RCV000597853|RCV000872896|RCV001090957; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824532448245324GA17:g.48245324G>AClinGen:CA8643771CN169374 not specified;
NM_000023.4(SGCA):c.330G>A (p.Arg110=)6442SGCALikely benign-1RCV002144991; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824532548245325GA48245325-
NM_000023.4(SGCA):c.333C>A (p.Asp111Glu)6442SGCAUncertain significancers1905064323RCV001203975; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824532848245328CA17:g.48245328C>A-
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)6442SGCAUncertain significancers749097695RCV001309841; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824533648245336AC48245336-
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)6442SGCAPathogenicrs752640127RCV000529542|RCV001269775; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824534148245342AACTCGG17:g.48245341_48245342insCTCGGClinGen:CA8643774C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)6442SGCAUncertain significancers200075504RCV000518751|RCV001090958|RCV001834675; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824534448245344CT17:g.48245344C>TClinGen:CA8643775CN169374 not specified;
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)6442SGCAUncertain significancers117672945RCV000395937|RCV001245748; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824534548245345GA17:g.48245345G>AClinGen:CA8643776CN169374 not specified;
NM_000023.4(SGCA):c.351G>A (p.Arg117=)6442SGCALikely benign-1RCV001448165; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824534648245346GA48245346-
NM_000023.4(SGCA):c.354G>A (p.Gln118=)6442SGCALikely benignrs772233387RCV000932270|RCV001444945; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824534948245349GA17:g.48245349G>A-
NM_000023.4(SGCA):c.366G>A (p.Leu122=)6442SGCAConflicting interpretations of pathogenicityrs147739328RCV000726142|RCV001083525; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824536148245361GA17:g.48245361G>AClinGen:CA8643779CN169374 not specified;
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)6442SGCAPathogenic/Likely pathogenicrs768814872RCV000169036|RCV000724041; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824536648245366TCNC_000017.10:g.48245366T>CClinGen:CA199048,UniProtKB:Q16586#VAR_010415C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)6442SGCAUncertain significancers1905070029RCV001224924; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824537148245371GA17:g.48245371G>A-
NM_000023.4(SGCA):c.377dup (p.Asp126fs)6442SGCAPathogenic-1RCV001386680; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824537148245372GGA48245371-
NM_000023.4(SGCA):c.385+7C>G6442SGCALikely benign-1RCV001437970; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824538748245387CG48245387-
NM_000023.4(SGCA):c.385+8T>C6442SGCALikely benign-1RCV002203207; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824538848245388TC48245388-
NM_000023.4(SGCA):c.385+167A>G6442SGCABenignrs11868160RCV000829188|RCV001527116; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824554748245547AG17:g.48245547A>G-
NM_000023.4(SGCA):c.386-16del6442SGCABenign/Likely benignrs556088617RCV000603585|RCV002063314; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824571848245718TCTNC_000017.10:g.48245719delClinGen:CA8643793CN169374 not specified;
NM_000023.4(SGCA):c.386-9C>T6442SGCALikely benign-1RCV001433335; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824572648245726CT48245726-
NM_000023.4(SGCA):c.391dup (p.Leu131fs)6442SGCALikely pathogenicrs144356125RCV000855431; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824573548245736GGC17:g.48245735_48245736insC-
NM_000023.4(SGCA):c.391del (p.Leu131fs)6442SGCAPathogenicrs144356125RCV000481165|RCV000536997; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824573648245736GCGNC_000017.10:g.48245740delClinGen:CA16620469
NM_000023.4(SGCA):c.390C>G (p.Pro130=)6442SGCALikely benignrs932963471RCV000936588|RCV001417979; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824573948245739CG17:g.48245739C>G-
NM_000023.4(SGCA):c.390C>T (p.Pro130=)6442SGCALikely benign-1RCV002188316; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824573948245739CT48245739-
NM_000023.4(SGCA):c.393G>C (p.Leu131=)6442SGCALikely benign-1RCV001436165; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824574248245742GC48245742-
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)6442SGCAConflicting interpretations of pathogenicityrs780264754RCV000286102|RCV000725557|RCV000778107; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824575148245751CGNC_000017.10:g.48245751C>GClinGen:CA8643795
NM_000023.4(SGCA):c.402C>T (p.Tyr134=)6442SGCAConflicting interpretations of pathogenicityrs780264754RCV000342740|RCV001467551; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575148245751CT17:g.48245751C>TClinGen:CA8643796CN169374 not specified;
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)6442SGCAPathogenic-1RCV001380152; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575148245751CA48245751-
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)6442SGCAPathogenic/Likely pathogenicrs886043221RCV000403326|RCV000725732; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824575248245752CT17:g.48245752C>TClinGen:CA10605259C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.408del (p.Glu137fs)6442SGCAPathogenicrs1905103030RCV001063795; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575648245756GCG17:g.48245756_48245756del-
NM_000023.4(SGCA):c.408C>T (p.Ala136=)6442SGCAConflicting interpretations of pathogenicityrs143551687RCV000347845|RCV001426063; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575748245757CT17:g.48245757C>TClinGen:CA8643797CN169374 not specified;
NM_000023.4(SGCA):c.408C>G (p.Ala136=)6442SGCALikely benign-1RCV001498087; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575748245757CG48245757-
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)6442SGCAPathogenic/Likely pathogenicrs372210292RCV000341255|RCV000725776; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824575848245758GA17:g.48245758G>AClinGen:CA501039,UniProtKB:Q16586#VAR_010416C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)6442SGCAConflicting interpretations of pathogenicityrs372210292RCV000670049; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575848245758GC17:g.48245758G>C-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)6442SGCAPathogenicrs397514451RCV000010045; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824575948245759AG17:g.48245759A>GClinGen:CA120429,UniProtKB:Q16586#VAR_037966,OMIM:600119.0004C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.417G>T (p.Leu139=)6442SGCALikely benign-1RCV002109732; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824576648245766GT48245766-
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)6442SGCAConflicting interpretations of pathogenicityrs35130237RCV000713237|RCV000852723|RCV001086384|RCV001122688; NMedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824577048245770CA17:g.48245770C>AClinGen:CA245881C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.423C>T (p.Arg141=)6442SGCALikely benign-1RCV001394618; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824577248245772CT48245772-
NM_000023.4(SGCA):c.429C>T (p.His143=)6442SGCALikely benign-1RCV002113407; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824577848245778CT48245778-
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)6442SGCAUncertain significancers771485989RCV000658787|RCV001241323; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824577948245779GA17:g.48245779G>A-CN517202 not provided;
NM_000023.4(SGCA):c.432T>C (p.Asp144=)6442SGCALikely benign-1RCV001434570; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824578148245781TC48245781-
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu)6442SGCAConflicting interpretations of pathogenicityrs372046855RCV001256190|RCV001814295; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745174824578348245783CA17:g.48245783C>A-
NM_000023.4(SGCA):c.435G>A (p.Ala145=)6442SGCALikely benign-1RCV001417103; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824578448245784GA48245784-
NM_000023.4(SGCA):c.436G>C (p.Glu146Gln)6442SGCAUncertain significancers1555568758RCV000550391; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824578548245785GC17:g.48245785G>CClinGen:CA400179871C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.438G>A (p.Glu146=)6442SGCALikely benign-1RCV002181189; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824578748245787GA48245787-
NM_000023.4(SGCA):c.441G>A (p.Glu147=)6442SGCALikely benign-1RCV002169318; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824579048245790GA48245790-
NM_000023.4(SGCA):c.442G>A (p.Val148Met)6442SGCAUncertain significancers1288174276RCV000805432; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824579148245791GA17:g.48245791G>A-
NM_000023.4(SGCA):c.444G>A (p.Val148=)6442SGCALikely benignrs1598267119RCV000918036; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824579348245793GA17:g.48245793G>A-
NM_000023.4(SGCA):c.445C>T (p.Leu149=)6442SGCALikely benign-1RCV001970133; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824579448245794CT48245794-
NM_000023.4(SGCA):c.461C>T (p.Ala154Val)6442SGCAUncertain significance-1RCV002021083; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824581048245810CT48245810-
NM_000023.4(SGCA):c.464del (p.Ser155fs)6442SGCAPathogenic/Likely pathogenicrs1555568775RCV000671062; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824581348245813AGA17:g.48245813_48245813del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.465C>G (p.Ser155Arg)6442SGCAUncertain significance-1RCV001952354; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824581448245814CG48245814-
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys)6442SGCAUncertain significance-1RCV001579256; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824581548245815CT48245815-
NM_000023.4(SGCA):c.471C>T (p.Phe157=)6442SGCALikely benign-1RCV001425702; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824582048245820CT48245820-
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe)6442SGCALikely pathogenic-1RCV002019216; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824582148245821CT48245821-
NM_000023.4(SGCA):c.474C>G (p.Leu158=)6442SGCALikely benign-1RCV001435491; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824582348245823CG48245823-
NM_000023.4(SGCA):c.480_481del (p.Leu161fs)6442SGCALikely pathogenicrs1057517142RCV000412176; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824582948245830CCTC17:g.48245829_48245830delClinGen:CA16041849C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.480C>G (p.Ala160=)6442SGCALikely benign-1RCV001485790; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824582948245829CG48245829-
NM_000023.4(SGCA):c.480C>T (p.Ala160=)6442SGCALikely benign-1RCV001490777; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824582948245829CT48245829-
NM_000023.4(SGCA):c.488dup (p.Leu164fs)6442SGCAPathogenic/Likely pathogenicrs763986788RCV000410508|RCV001008811; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824583148245832TTGNC_000017.10:g.48245837dupClinGen:CA8643811C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)6442SGCAUncertain significancers1555568788RCV000595970|RCV000822006; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824583248245833GGCTNC_000017.10:g.48245832_48245833delinsCTClinGen:CA658798902CN169374 not specified;
NM_000023.4(SGCA):c.486G>A (p.Gly162=)6442SGCALikely benign-1RCV001413325; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824583548245835GA48245835-
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)6442SGCAUncertain significancers1356585975RCV001122690|RCV001856619; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824583748245837GC17:g.48245837G>C-
NM_000023.4(SGCA):c.489del (p.Leu164fs)6442SGCAPathogenicrs753650776RCV000411266|RCV000593004; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824583848245838GAG17:g.48245838_48245838delClinGen:CA8643812C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.489A>G (p.Gly163=)6442SGCALikely benign-1RCV002138013; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824583848245838AG48245838-
NM_000023.4(SGCA):c.498G>A (p.Glu166=)6442SGCALikely benignrs1598267318RCV000983525; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824584748245847GA17:g.48245847G>A-
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp)6442SGCAUncertain significance-1RCV001896541; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824584748245847GC48245847-
NM_000023.4(SGCA):c.501C>T (p.Pro167=)6442SGCALikely benign-1RCV001435810; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824585048245850CT48245850-
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)6442SGCAUncertain significancers199810179RCV000592735|RCV001256191; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824585148245851GA17:g.48245851G>AClinGen:CA8643815CN169374 not specified;
NM_000023.4(SGCA):c.506A>T (p.Glu169Val)6442SGCAUncertain significance-1RCV001929449; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824585548245855AT48245855-
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)6442SGCALikely pathogenicrs1057516242RCV000410603; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824586048245860CTNC_000017.10:g.48245860C>TClinGen:CA16041850C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.516G>C (p.Leu172=)6442SGCALikely benign-1RCV002132522; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824586548245865GC48245865-
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)6442SGCAPathogenic/Likely pathogenicrs143962150RCV000284145|RCV001194148|RCV001377411; NMedGen:CN517202|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824586748245867TC17:g.48245867T>CClinGen:CA8643817,UniProtKB:Q16586#VAR_010431C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.519C>T (p.Leu173=)6442SGCALikely benign-1RCV001413280; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824586848245868CT48245868-
NM_000023.4(SGCA):c.522C>T (p.Asn174=)6442SGCALikely benignrs148960833RCV000952486; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824587148245871CT17:g.48245871C>T-
NM_000023.4(SGCA):c.524T>C (p.Val175Ala)6442SGCAPathogenicrs137852622RCV000010043; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824587348245873TC17:g.48245873T>CClinGen:CA120425,UniProtKB:Q16586#VAR_010389,OMIM:600119.0002C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.525C>A (p.Val175=)6442SGCALikely benign-1RCV002133232; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824587448245874CA48245874-
NM_000023.4(SGCA):c.528C>T (p.Thr176=)6442SGCABenignrs1801190RCV000118331|RCV000341013|RCV000713238|RCV001094487; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824587748245877CT17:g.48245877C>TClinGen:CA155174C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)6442SGCAConflicting interpretations of pathogenicityrs574376340RCV000486077|RCV000675090; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589048245890CANC_000017.10:g.48245890C>AClinGen:CA8643819
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)6442SGCAUncertain significancers574376340RCV000733719|RCV000804361; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589048245890CTNC_000017.10:g.48245890C>T-
NM_000023.4(SGCA):c.542G>T (p.Arg181Leu)6442SGCAUncertain significancers746412103RCV001317894; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589148245891GT48245891-
NM_000023.4(SGCA):c.543T>A (p.Arg181=)6442SGCALikely benign-1RCV001499392; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589248245892TA48245892-
NM_000023.4(SGCA):c.546G>A (p.Gly182=)6442SGCALikely benign-1RCV001500533; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589548245895GA48245895-
NM_000023.4(SGCA):c.548G>T (p.Gly183Val)6442SGCAUncertain significance-1RCV001994940; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589748245897GT48245897-
NM_000023.4(SGCA):c.549C>T (p.Gly183=)6442SGCALikely benign-1RCV001442151; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824589848245898CT48245898-
NM_000023.4(SGCA):c.551G>A (p.Arg184His)6442SGCAUncertain significancers142169382RCV000693607; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824590048245900GANC_000017.10:g.48245900G>A-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.555C>A (p.Val185=)6442SGCAConflicting interpretations of pathogenicityrs201518390RCV000360924|RCV001086806|RCV001122691; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824590448245904CA17:g.48245904C>AClinGen:CA8643828CN169374 not specified;
NM_000023.4(SGCA):c.559del (p.Leu187fs)6442SGCALikely pathogenicrs1057516888RCV000409089; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824590448245904TCTNC_000017.10:g.48245908delClinGen:CA16041851C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)6442SGCAPathogenicrs387907298RCV000030783|RCV000730723|RCV001836716; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745174824592348245923CT17:g.48245923C>TClinGen:CA130100,OMIM:600119.0007C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)6442SGCAUncertain significancers200945974RCV000813682; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824592448245924GA17:g.48245924G>A-
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)6442SGCALikely pathogenicrs1057516664RCV000411377; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824592948245929GTNC_000017.10:g.48245929G>TClinGen:CA16041852C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.584+1del6442SGCALikely pathogenicrs1555568876RCV000665165; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824593248245932AGANC_000017.10:g.48245934del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.584+1G>A6442SGCALikely pathogenic-1RCV002005157; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824593448245934GA48245934-
NM_000023.4(SGCA):c.584+10C>T6442SGCALikely benign-1RCV001419659; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824594348245943CT48245943-
NM_000023.4(SGCA):c.584+10C>G6442SGCALikely benign-1RCV001466217; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824594348245943CG48245943-
NM_000023.4(SGCA):c.584+13C>A6442SGCALikely benign-1RCV002112972; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824594648245946CA48245946-
NM_000023.4(SGCA):c.584+17A>G6442SGCALikely benign-1RCV002155591; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824595048245950AG48245950-
NM_000023.4(SGCA):c.585-33A>C6442SGCALikely benign-1RCV002072375; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824642048246420AC48246420-
NM_000023.4(SGCA):c.585-5_585-4delinsTG6442SGCALikely benign-1RCV001423581; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824644848246449CCTG48246448-
NM_000023.4(SGCA):c.585-2A>T6442SGCALikely pathogenicrs1555568965RCV000665422; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645148246451AT17:g.48246451A>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.585-2A>C6442SGCAPathogenicrs1555568965RCV000695383; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645148246451ACNC_000017.10:g.48246451A>C-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.585-1G>A6442SGCAPathogenicrs1342189589RCV000594653|RCV001783095; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645248246452GA17:g.48246452G>AClinGen:CA400180251C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del)6442SGCAUncertain significancers1555568966RCV000549897; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645348246464GGGTATACATTAAGNC_000017.10:g.48246456_48246467delClinGen:CA658656730C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_001135697.3(SGCA):c.584+521del6442SGCALikely pathogenicrs1220674950RCV000599051|RCV000984214; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645448246454AGANC_000017.10:g.48246454delClinGen:CA658798903CN517202 not provided;
NM_000023.4(SGCA):c.586G>T (p.Val196Leu)6442SGCAUncertain significance-1RCV001903131; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645448246454GT48246454-
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)6442SGCALikely benignrs756137267RCV000872727; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824645948246459CT17:g.48246459C>T-
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)6442SGCAUncertain significancers375463037RCV001244371|RCV001664777; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824646048246460AG17:g.48246460A>G-
NM_000023.4(SGCA):c.594T>C (p.Ile198=)6442SGCALikely benign-1RCV002169739; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824646248246462TC48246462-
NM_000023.4(SGCA):c.597G>A (p.Lys199=)6442SGCALikely benign-1RCV001505709; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824646548246465GA48246465-
NM_000023.4(SGCA):c.600G>A (p.Val200=)6442SGCALikely benignrs764188161RCV000431109|RCV002059985; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824646848246468GA17:g.48246468G>AClinGen:CA8643850CN169374 not specified;
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser)6442SGCALikely pathogenic-1RCV002013697; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824646948246469GA48246469-
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp)6442SGCALikely pathogenic-1RCV001989171; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824647048246470GA48246470-
NM_000023.4(SGCA):c.614C>A (p.Pro205His)6442SGCAConflicting interpretations of pathogenicityrs757481230RCV000442753|RCV000675091; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824648248246482CANC_000017.10:g.48246482C>AClinGen:CA501043,UniProtKB:Q16586#VAR_010419
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)6442SGCALikely pathogenicrs757481230RCV000478809|RCV000984215; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824648248246482CTNC_000017.10:g.48246482C>TClinGen:CA8643852
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala)6442SGCAUncertain significancers1555568984RCV000668204; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824649048246490AG17:g.48246490A>G-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.633G>A (p.Lys211=)6442SGCALikely benign-1RCV001437819; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824650148246501GA48246501-
NM_000023.4(SGCA):c.635T>A (p.Met212Lys)6442SGCAUncertain significance-1RCV001864869; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824650348246503TA48246503-
NM_000023.4(SGCA):c.643T>C (p.Ser215Pro)6442SGCAUncertain significance-1RCV001989364; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824651148246511TC48246511-
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)6442SGCAUncertain significancers750844090RCV000666057; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824651248246512CT17:g.48246512C>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.648C>T (p.Pro216=)6442SGCAConflicting interpretations of pathogenicityrs758813493RCV000404924|RCV001493911; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824651648246516CTNC_000017.10:g.48246516C>TClinGen:CA8643854C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.649G>A (p.Asp217Asn)6442SGCAUncertain significance-1RCV001933201; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824651748246517GA48246517-
NM_000023.4(SGCA):c.651T>C (p.Asp217=)6442SGCALikely benign-1RCV001418842; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824651948246519TC48246519-
NM_000023.4(SGCA):c.657C>T (p.His219=)6442SGCAConflicting interpretations of pathogenicityrs747684069RCV000352432|RCV001123793|RCV001413037; NMedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824652548246525CT17:g.48246525C>TClinGen:CA8643857CN169374 not specified;
NM_000023.4(SGCA):c.658_659del (p.Ala220fs)6442SGCAPathogenicrs1905167458RCV001038073; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824652548246526ACGA17:g.48246525_48246526del-
NM_000023.4(SGCA):c.658G>A (p.Ala220Thr)6442SGCAUncertain significancers958974999RCV001319634; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824652648246526GA48246526-
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)6442SGCAUncertain significancers748936034RCV000726679|RCV000669831; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824652948246529CTNC_000017.10:g.48246529C>TClinGen:CA8643859
NM_000023.4(SGCA):c.662G>A (p.Arg221His)6442SGCAConflicting interpretations of pathogenicityrs138254713RCV000243208|RCV000665313|RCV001123794|RCV001508812; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MedGen:CN517202174824653048246530GA17:g.48246530G>AClinGen:CA8643860C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)6442SGCAUncertain significancers886044540RCV000319158|RCV000690077; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824654248246542GA17:g.48246542G>AClinGen:CA10606886C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.675C>T (p.Gly225=)6442SGCAUncertain significancers773985328RCV000803825; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824654348246543CT17:g.48246543C>T-
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)6442SGCAPathogenicrs1567741398RCV000733288|RCV001381638; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824654448246544CTNC_000017.10:g.48246544C>T-
NM_000023.4(SGCA):c.678G>A (p.Gln226=)6442SGCALikely benign-1RCV001504341; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824654648246546GA48246546-
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)6442SGCAConflicting interpretations of pathogenicityrs201131924RCV000248171|RCV000700385|RCV000724711|RCV001123795; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824654848246548CG17:g.48246548C>GClinGen:CA246518C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.681T>C (p.Pro227=)6442SGCALikely benign-1RCV001402189; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824654948246549TC48246549-
NM_000023.4(SGCA):c.690G>C (p.Leu230=)6442SGCAConflicting interpretations of pathogenicityrs139454982RCV000179240|RCV000723474|RCV001084493|RCV001123796; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824655848246558GC17:g.48246558G>CClinGen:CA246515C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.690G>A (p.Leu230=)6442SGCAConflicting interpretations of pathogenicityrs139454982RCV000301286|RCV002056610; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824655848246558GANC_000017.10:g.48246558G>AClinGen:CA10650513C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr)6442SGCAUncertain significance-1RCV001360119; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824656348246563GA48246563-
NM_000023.4(SGCA):c.699C>T (p.Tyr233=)6442SGCALikely benign-1RCV001399766; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824656748246567CT48246567-
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)6442SGCAUncertain significancers760608643RCV000648057|RCV000723501; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824656848246568GANC_000017.10:g.48246568G>AClinGen:CA246512
NM_000023.4(SGCA):c.705C>T (p.Thr235=)6442SGCALikely benignrs1291296598RCV000939424|RCV001496284; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824657348246573CT17:g.48246573C>T-
NM_000023.4(SGCA):c.708G>C (p.Leu236Phe)6442SGCAUncertain significance-1RCV001871008; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824657648246576GC48246576-
NM_000023.4(SGCA):c.711A>C (p.Ala237=)6442SGCALikely benign-1RCV002105675; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824657948246579AC48246579-
NM_000023.4(SGCA):c.714C>G (p.Pro238=)6442SGCALikely benign-1RCV001433763; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824658248246582CG48246582-
NM_000023.4(SGCA):c.716A>G (p.His239Arg)6442SGCAUncertain significancers398123099RCV000077940|RCV001854370; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824658448246584AG17:g.48246584A>GClinGen:CA220239CN169374 not specified;
NM_000023.4(SGCA):c.717C>T (p.His239=)6442SGCALikely benign-1RCV002220790; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824658548246585CT48246585-
NM_000023.4(SGCA):c.718T>G (p.Phe240Val)6442SGCAUncertain significancers1555569031RCV000670115; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824658648246586TG17:g.48246586T>G-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys)6442SGCAUncertain significancers753972912RCV000802542; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824658948246589CT17:g.48246589C>T-
NM_000023.4(SGCA):c.723C>T (p.Arg241=)6442SGCALikely benign-1RCV001467338; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824659148246591CT48246591-
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)6442SGCAPathogenicrs200166783RCV000553098; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824659248246592GTNC_000017.10:g.48246592G>TClinGen:CA400181014C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)6442SGCAUncertain significancers200166783RCV000597792|RCV000795613; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824659248246592GANC_000017.10:g.48246592G>AClinGen:CA8643868CN169374 not specified;
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn)6442SGCAUncertain significancers1555569038RCV000671473; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824659548246595GA17:g.48246595G>A-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)6442SGCAUncertain significancers886042858RCV000383284|RCV001319251; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824660548246605AG17:g.48246605A>GClinGen:CA10604781CN169374 not specified;
NM_000023.4(SGCA):c.739G>A (p.Val247Met)6442SGCAPathogenic/Likely pathogenicrs143570936RCV000179241|RCV000710212|RCV000779226; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824660748246607GA17:g.48246607G>AClinGen:CA203189,UniProtKB:Q16586#VAR_010433C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.747G>T (p.Leu249=)6442SGCALikely pathogenic-1RCV001985841; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824661548246615GT48246615-
NM_000023.4(SGCA):c.747+1G>A6442SGCAPathogenic/Likely pathogenicrs886043392RCV000301700|RCV001378409; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824661648246616GA17:g.48246616G>AClinGen:CA10605463C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.747+3G>A6442SGCAUncertain significancers368388538RCV000804995; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824661848246618GA17:g.48246618G>A-
NM_000023.4(SGCA):c.747+9G>A6442SGCALikely benignrs1598268788RCV001395013|RCV000980485; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824662448246624GA17:g.48246624G>A-
NM_000023.4(SGCA):c.748-11_748-10delinsAA6442SGCAUncertain significance-1RCV001913006; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824749348247494TCAA48247493-
NM_000023.4(SGCA):c.748-5T>G6442SGCALikely benign-1RCV002159362; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824749948247499TG48247499-
NM_000023.4(SGCA):c.748-3C>T6442SGCAUncertain significancers794727834RCV000179700|RCV001852235; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824750148247501CT17:g.48247501C>TClinGen:CA247009CN169374 not specified;
NM_000023.4(SGCA):c.748-2A>T6442SGCALikely pathogenicrs1412537279RCV000668485; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824750248247502AT17:g.48247502A>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.748G>T (p.Val250Leu)6442SGCAUncertain significance-1RCV001893883; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824750448247504GT48247504-
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)6442SGCALikely pathogenicrs1057517377RCV000409217; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824751048247511TAAT17:g.48247510_48247511delClinGen:CA16041853C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.755del (p.Lys252fs)6442SGCALikely pathogenicrs1057516548RCV000410962; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824751048247510TAT17:g.48247510_48247510delClinGen:CA16041854C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.762G>A (p.Val254=)6442SGCALikely benign-1RCV001467376; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824751848247518GA48247518-
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)6442SGCAConflicting interpretations of pathogenicityrs138019537RCV000325767|RCV000354282|RCV001094493; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824752048247520CT17:g.48247520C>TClinGen:CA8643912C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.765G>A (p.Pro255=)6442SGCALikely benign-1RCV002194756; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824752148247521GA48247521-
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)6442SGCAUncertain significancers746698767RCV000592963|RCV001854075; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824752248247522GA17:g.48247522G>AClinGen:CA8643914CN169374 not specified;
NM_000023.4(SGCA):c.768G>A (p.Glu256=)6442SGCALikely benign-1RCV001394026; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824752448247524GA48247524-
NM_000023.4(SGCA):c.772G>T (p.Ala258Ser)6442SGCAUncertain significancers934936899RCV000798198; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824752848247528GT17:g.48247528G>T-
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)6442SGCAUncertain significancers754703769RCV001242012; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824753748247537GT17:g.48247537G>T-
NM_000023.4(SGCA):c.781G>A (p.Val261Met)6442SGCAUncertain significancers754703769RCV001241763; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824753748247537GA17:g.48247537G>A-
NM_000023.4(SGCA):c.783G>C (p.Val261=)6442SGCALikely benign-1RCV001983069; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824753948247539GC48247539-
NM_000023.4(SGCA):c.786C>T (p.Pro262=)6442SGCALikely benign-1RCV002205141; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824754248247542CT48247542-
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)6442SGCAPathogenicrs1905254738RCV001051164; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824754348247544AACC17:g.48247543_48247544insCC-
NM_000023.4(SGCA):c.789C>A (p.Thr263=)6442SGCAConflicting interpretations of pathogenicityrs769688229RCV000179699|RCV001441307; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824754548247545CA17:g.48247545C>AClinGen:CA247006CN169374 not specified;
NM_000023.4(SGCA):c.789C>G (p.Thr263=)6442SGCALikely benignrs769688229RCV000941389|RCV001492696; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824754548247545CG17:g.48247545C>G-
NM_000023.4(SGCA):c.801dup (p.Ile268fs)6442SGCAPathogenicrs1905256830RCV001057349; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824755448247555TTG17:g.48247554_48247555insG-
NM_000023.4(SGCA):c.804C>T (p.Ile268=)6442SGCALikely benign-1RCV002166212; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824756048247560CT48247560-
NM_000023.4(SGCA):c.816C>G (p.Asp272Glu)6442SGCALikely benign-1RCV002082054; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824757248247572CG48247572-
NM_000023.4(SGCA):c.819G>T (p.Pro273=)6442SGCAConflicting interpretations of pathogenicityrs35972733RCV000361536|RCV001079070; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824757548247575GT17:g.48247575G>TClinGen:CA8643920CN169374 not specified;
NM_000023.4(SGCA):c.819G>A (p.Pro273=)6442SGCALikely benignrs35972733RCV000614187|RCV001426694; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824757548247575GA17:g.48247575G>AClinGen:CA8643922CN169374 not specified;
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del)6442SGCAUncertain significancers750086289RCV000672664; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824757648247578GTTCG17:g.48247576_48247578del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.825C>T (p.Phe275=)6442SGCALikely benign-1RCV002128342; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824758148247581CT48247581-
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)6442SGCAPathogenic-1RCV001941636; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824758448247584CA48247584-
NM_000023.4(SGCA):c.828C>T (p.Cys276=)6442SGCALikely benign-1RCV002139453; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824758448247584CT48247584-
NM_000023.4(SGCA):c.829C>T (p.Pro277Ser)6442SGCAUncertain significance-1RCV001919243; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824758548247585CT48247585-
NM_000023.4(SGCA):c.837T>C (p.Thr279=)6442SGCALikely benignrs775773189RCV000541822; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824759348247593TC17:g.48247593T>CClinGen:CA8643926C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.842C>T (p.Ala281Val)6442SGCAUncertain significancers1905262104RCV001241597; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824759848247598CT17:g.48247598C>T-
NM_000023.4(SGCA):c.843C>A (p.Ala281=)6442SGCAConflicting interpretations of pathogenicityrs149487996RCV000398392|RCV001086852; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824759948247599CA17:g.48247599C>AClinGen:CA8643927CN169374 not specified;
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)6442SGCALikely pathogenicrs1057516729RCV000411428; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824760248247603AGTNC_000017.10:g.48247602_48247603delinsTClinGen:CA16041855C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.847G>C (p.Asp283His)6442SGCAUncertain significancers766674286RCV001306869|RCV000734111; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824760348247603GCNC_000017.10:g.48247603G>C-
NM_000023.4(SGCA):c.849C>T (p.Asp283=)6442SGCALikely benign-1RCV001505445; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824760548247605CT48247605-
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)6442SGCAPathogenic/Likely pathogenicrs137852623RCV000010046|RCV000498385|RCV000778108|RCV001194149|RCV001813972; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontolog174824760648247606CTNC_000017.10:g.48247606C>TClinGen:CA120431,UniProtKB:Q16586#VAR_010390,OMIM:600119.0005
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)6442SGCAUncertain significancers137852623RCV001248461; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824760648247606CG17:g.48247606C>G-
NM_000023.4(SGCA):c.851G>A (p.Arg284His)6442SGCAUncertain significancers369359375RCV001242886; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824760748247607GA17:g.48247607G>A-
NM_000023.4(SGCA):c.862del (p.Val288fs)6442SGCAPathogenic-1RCV001883739; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824761748247617TGT48247616-
NM_000023.4(SGCA):c.864G>C (p.Val288=)6442SGCALikely benign-1RCV002083988; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824762048247620GC48247620-
NM_000023.4(SGCA):c.867T>C (p.Asp289=)6442SGCALikely benignrs751156929RCV000933041|RCV002066117; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824762348247623TC17:g.48247623T>C-
NM_000023.4(SGCA):c.869C>T (p.Ala290Val)6442SGCAUncertain significancers373312721RCV001071985; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824762548247625CT17:g.48247625C>T-
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del)6442SGCAUncertain significancers1555569303RCV000672779; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824762748247638TCTGGTCACCCTCT17:g.48247627_48247638del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.879C>A (p.Thr293=)6442SGCALikely benign-1RCV001393318; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824763548247635CA48247635-
NM_000023.4(SGCA):c.882C>G (p.Leu294=)6442SGCALikely benign-1RCV002084174; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824763848247638CG48247638-
NM_000023.4(SGCA):c.883C>T (p.Leu295=)6442SGCALikely benign-1RCV001432639; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824763948247639CT48247639-
NM_000023.4(SGCA):c.894G>C (p.Leu298=)6442SGCALikely benign-1RCV002126536; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824765048247650GC48247650-
NM_000023.4(SGCA):c.904del (p.Leu302fs)6442SGCAPathogenic-1RCV001784968; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824765848247658GCG48247657-
NM_000023.4(SGCA):c.904C>T (p.Leu302=)6442SGCALikely benign-1RCV002079459; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824766048247660CT48247660-
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)6442SGCAPathogenicrs760989961RCV001062845; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824766148247661TG17:g.48247661T>G-
NM_000023.4(SGCA):c.912C>T (p.Leu304=)6442SGCALikely benign-1RCV001478605; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824766848247668CT48247668-
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)6442SGCAConflicting interpretations of pathogenicityrs1555569329RCV000671742; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824768448247685CTAC17:g.48247684_48247685del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)6442SGCAUncertain significancers145252144RCV000404103|RCV000545952|RCV001123797; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052174824768548247685AG17:g.48247685A>GClinGen:CA8643945C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.933C>T (p.Val311=)6442SGCABenignrs1801191RCV000118332|RCV000314680|RCV000710213|RCV001094529|RCV001272917; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|174824768948247689CT17:g.48247689C>TClinGen:CA155177C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.939C>T (p.Cys313=)6442SGCALikely benign-1RCV002210315; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824769548247695CT48247695-
NM_000023.4(SGCA):c.948G>A (p.Arg316=)6442SGCALikely benign-1RCV001419897; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824770448247704GA48247704-
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)6442SGCALikely pathogenicrs1555569339RCV000672180; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824770548247705GT17:g.48247705G>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.956+2_956+19del6442SGCALikely pathogenicrs1555569342RCV000669806; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824770948247726GGAAGGTGAATGTGGGCATG17:g.48247709_48247726del-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.956+8T>C6442SGCALikely benign-1RCV002155281; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824772048247720TC48247720-
NM_000023.4(SGCA):c.956+21C>T6442SGCALikely benignrs367690233RCV000667376; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824773348247733CT17:g.48247733C>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.957-11C>G6442SGCAConflicting interpretations of pathogenicityrs1391089933RCV001255990|RCV001566805; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174824799048247990CG17:g.48247990C>G-
NM_000023.4(SGCA):c.957-6C>T6442SGCALikely benignrs1406175539RCV000877315; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824799548247995CT17:g.48247995C>T-
NM_000023.4(SGCA):c.957-1G>T6442SGCALikely pathogenic-1RCV001377786; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824800048248000GT48248000-
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu)6442SGCAUncertain significance-1RCV001368777; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824801348248013CA48248013-
NM_000023.4(SGCA):c.974C>T (p.Ala325Val)6442SGCAUncertain significancers780200261RCV000693994; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824801848248018CTNC_000017.10:g.48248018C>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.975T>A (p.Ala325=)6442SGCALikely benign-1RCV001394321; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824801948248019TA48248019-
NM_000023.4(SGCA):c.978C>T (p.Thr326=)6442SGCALikely benign-1RCV001492595; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824802248248022CT48248022-
NM_000023.4(SGCA):c.981C>T (p.Ser327=)6442SGCAConflicting interpretations of pathogenicityrs368522117RCV000413434|RCV001085556; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824802548248025CTNC_000017.10:g.48248025C>TClinGen:CA8643978
NM_000023.4(SGCA):c.983A>T (p.Asp328Val)6442SGCAUncertain significancers966135192RCV000794658; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824802748248027AT17:g.48248027A>T-
NM_000023.4(SGCA):c.983+10G>C6442SGCALikely benign-1RCV002213120; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824803748248037GC48248037-
NM_000023.4(SGCA):c.983+19G>A6442SGCALikely benign-1RCV002092273; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174824804648248046GA48248046-
NM_000023.4(SGCA):c.984-10G>A6442SGCAConflicting interpretations of pathogenicityrs369385261RCV000355232|RCV001085777; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825260848252608GA17:g.48252608G>AClinGen:CA8644062CN169374 not specified;
NC_000017.10:g.(?_48252608)_(48253303_?)del6442SGCAUncertain significance-1RCV001938129; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825260848253303nana-1-
NM_000023.4(SGCA):c.990G>A (p.Gln330=)6442SGCALikely benign-1RCV001985782; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825262448252624GA48252624-
NM_000023.4(SGCA):c.996C>A (p.Val332=)6442SGCALikely benign-1RCV001464313; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825263048252630CA48252630-
NM_000023.4(SGCA):c.996C>T (p.Val332=)6442SGCALikely benign-1RCV001468310; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825263048252630CT48252630-
NM_000023.4(SGCA):c.999C>T (p.His333=)6442SGCALikely benign-1RCV002095743; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825263348252633CT48252633-
NM_000023.4(SGCA):c.1007_1009dup (p.Thr336dup)6442SGCAUncertain significance-1RCV001943215; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825263848252639GGCAC48252638-
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr)6442SGCAUncertain significancers1353699486RCV001327746; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825264448252644TC48252644-
NM_000023.4(SGCA):c.1011C>T (p.Ile337=)6442SGCALikely benign-1RCV001393305; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825264548252645CT48252645-
NM_000023.4(SGCA):c.1011C>A (p.Ile337=)6442SGCALikely benign-1RCV001462287; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825264548252645CA48252645-
NM_000023.4(SGCA):c.1014C>T (p.His338=)6442SGCALikely benign-1RCV001475054; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825264848252648CT48252648-
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)6442SGCAUncertain significancers540254057RCV000406824|RCV000815330; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825264948252649GANC_000017.10:g.48252649G>AClinGen:CA8644067CN169374 not specified;
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln)6442SGCAUncertain significancers771876078RCV001246280; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825266848252668GA17:g.48252668G>A-
NM_000023.4(SGCA):c.1035G>A (p.Arg345=)6442SGCALikely benignrs374989747RCV000423135|RCV000896868; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825266948252669GA17:g.48252669G>AClinGen:CA8644070CN169374 not specified;
NM_000023.4(SGCA):c.1044G>A (p.Ala348=)6442SGCALikely benign-1RCV001431060; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825267848252678GA48252678-
NM_000023.4(SGCA):c.1047C>T (p.Ala349=)6442SGCALikely benignrs199518562RCV000871228; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825268148252681CT17:g.48252681C>T-
NM_000023.4(SGCA):c.1047C>G (p.Ala349=)6442SGCALikely benign-1RCV002125885; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825268148252681CG48252681-
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)6442SGCAUncertain significancers143365858RCV001126445|RCV001856656; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825268548252685CT17:g.48252685C>T-
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)6442SGCAUncertain significancers148373921RCV001223981; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825268748252687CT17:g.48252687C>T-
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)6442SGCALikely pathogenicrs763372958RCV000665388; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825268848252688GT17:g.48252688G>T-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln)6442SGCAUncertain significance-1RCV001880994; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825268848252688GC48252688-
NM_000023.4(SGCA):c.1062C>G (p.Pro354=)6442SGCALikely benign-1RCV001498676; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825269648252696CG48252696-
NM_000023.4(SGCA):c.1062C>T (p.Pro354=)6442SGCALikely benign-1RCV002173322; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825269648252696CT48252696-
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln)6442SGCAUncertain significancers1270625423RCV001325084; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825269848252698GA48252698-
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe)6442SGCAUncertain significance-1RCV001934824; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825270748252707CT48252707-
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)6442SGCAUncertain significancers146924667RCV000592529|RCV000648058; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825271048252710CA17:g.48252710C>AClinGen:CA8644080C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.1083C>T (p.Pro361=)6442SGCALikely benign-1RCV002179395; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825271748252717CT48252717-
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)6442SGCAUncertain significancers756912039RCV000376537|RCV000809739; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825272548252725AGNC_000017.10:g.48252725A>GClinGen:CA8644083CN169374 not specified;
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu)6442SGCAUncertain significance-1RCV002012558; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825272748252727GC48252727-
NM_000023.4(SGCA):c.1098C>T (p.His366=)6442SGCALikely benign-1RCV001502110; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825273248252732CT48252732-
NM_000023.4(SGCA):c.1104T>C (p.Gly368=)6442SGCALikely benign-1RCV002071512; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825273848252738TC48252738-
NM_000023.4(SGCA):c.1108C>A (p.Arg370=)6442SGCALikely benign-1RCV001461750; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825274248252742CA48252742-
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)6442SGCAUncertain significancers779834721RCV000399368|RCV001859567; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825274348252743GA17:g.48252743G>AClinGen:CA8644087CN169374 not specified;
NM_000023.4(SGCA):c.1119C>T (p.Pro373=)6442SGCALikely benign-1RCV002218214; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825275348252753CT48252753-
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)6442SGCABenignrs35495899RCV000153939|RCV000530608|RCV000852724|RCV001126446|RCV001704117; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MedGen:CN517202174825275448252754CT17:g.48252754C>TClinGen:CA180427C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.1122C>T (p.Arg374=)6442SGCALikely benign-1RCV002110426; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825275648252756CT48252756-
NM_000023.4(SGCA):c.1125G>A (p.Val375=)6442SGCAUncertain significance-1RCV002033158; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825275948252759GA48252759-
NM_000023.4(SGCA):c.1128C>T (p.Asp376=)6442SGCALikely benign-1RCV002047909; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825276248252762CT48252762-
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly)6442SGCAUncertain significance-1RCV001579257; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825276348252763AG48252763-
NM_000023.4(SGCA):c.1131C>T (p.Ser377=)6442SGCALikely benign-1RCV001398014; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825276548252765CT48252765-
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)6442SGCAUncertain significancers375692868RCV000400510|RCV001066076; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825276648252766GA17:g.48252766G>AClinGen:CA8644093CN169374 not specified;
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)6442SGCAUncertain significancers751466306RCV000545353|RCV000713235; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN517202174825276748252767CT17:g.48252767C>TClinGen:CA8644094C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.1134C>A (p.Ala378=)6442SGCALikely benignrs1235150688RCV000940707|RCV001477361; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825276848252768CA17:g.48252768C>A-
NM_000023.4(SGCA):c.1136A>G (p.Gln379Arg)6442SGCAUncertain significance-1RCV001904415; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825277048252770AG48252770-
NM_000023.4(SGCA):c.1146C>T (p.Leu382=)6442SGCALikely benign-1RCV001395191; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825278048252780CT48252780-
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)6442SGCAUncertain significancers1487379783RCV000729299|RCV000798930; NMedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825278448252794TCTGGACCAGCATNC_000017.10:g.48252787_48252797del-
NM_000023.4(SGCA):c.1155C>T (p.Asp385=)6442SGCALikely benignrs183964744RCV000555786|RCV000610896; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN169374174825278948252789CT17:g.48252789C>TClinGen:CA8644095C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.1159C>T (p.His387Tyr)6442SGCAUncertain significancers1905861368RCV001216037; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825279348252793CT17:g.48252793C>T-
NM_000023.4(SGCA):c.1163G>A (p.Ter388=)6442SGCALikely benign-1RCV001470037; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825279748252797GA48252797-
NM_000023.4(SGCA):c.*6T>C6442SGCABenignrs2696288RCV000153940|RCV001272918; NMedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825280448252804TC17:g.48252804T>CClinGen:CA214793CN169374 not specified;
NM_000023.4(SGCA):c.*10C>G6442SGCABenignrs60300808RCV000274520|RCV000428179|RCV001272919; NMONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052|MedGen:CN169374|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825280848252808CGNC_000017.10:g.48252808C>GClinGen:CA8644096C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.12+2T>C6442SGCAUncertain significancers1297436069RCV000669344; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825281248252812TC17:g.48252812T>C-C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_000023.4(SGCA):c.*134del6442SGCAUncertain significancers201486782RCV000271154; NMONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62174825319448253194GAGNC_000017.10:g.48253194delClinGen:CA8644115C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)7846TUBA1APathogenicrs587784483RCV000147798|RCV000494633|RCV000663417|RCV000767408|RCV001291300; NMONDO:MONDO:0012703,MedGen:C1969029,OMIM:611603, Orphanet:171680|MedGen:CN517202|MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099, Orphanet:62|MedGen:CN850169|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGe124957894549578945GA12:g.49578945G>AClinGen:CA213256,UniProtKB:Q71U36#VAR_039336C2936332 608099 Limb-girdle muscular dystrophy, type 2D;
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