SELENON — 799 ClinVar variants

All ClinVar germline SELENON variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

54 Pathogenic · 30 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 44 Conflicting · 58 Benign · 13 Benign/Likely benign · 259 Likely benign · 316 Uncertain significance

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

All SELENON variants

Pathogenic 54

c.644_645+36del Multiple submitters Desmin-related myopathy with Mallory body-like inclusions
p.Arg25fs Multiple submitters congenital myopathy 3 with rigid spine
p.Arg26fs Multiple submitters congenital myopathy 3 with rigid spine
p.Arg405Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Asn204fs Multiple submitters SELENON-related disorder
p.Asp84fs Multiple submitters congenital myopathy 3 with rigid spine
p.Gln181fs Multiple submitters congenital myopathy 3 with rigid spine
p.Gln8fs Multiple submitters congenital myopathy 3 with rigid spine
p.Glu360Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Met196fs Multiple submitters congenital myopathy 3 with rigid spine
p.Val299fs Multiple submitters congenital myopathy 3 with rigid spine
c.1180-13G>A Single submitter congenital myopathy 3 with rigid spine
c.1180-1G>T Single submitter congenital myopathy 3 with rigid spine
c.301+1G>T Single submitter
c.301+2T>C Single submitter congenital myopathy 3 with rigid spine
c.302-1G>A Single submitter congenital myopathy 3 with rigid spine
c.-21_183+6del Single submitter congenital myopathy 3 with rigid spine
c.-55_183del Single submitter congenital myopathy 3 with rigid spine
p.Ala18fs Single submitter congenital myopathy 3 with rigid spine
p.Arg5fs Single submitter congenital myopathy 3 with rigid spine
p.Asp116fs Single submitter congenital myopathy 3 with rigid spine
p.Asp288fs Single submitter congenital myopathy 3 with rigid spine
p.Asp294fs Single submitter congenital myopathy 3 with rigid spine
p.Asp404fs Single submitter congenital myopathy 3 with rigid spine
p.Gln238Ter Single submitter
p.Gln330Ter Single submitter congenital myopathy 4A, autosomal dominant
p.Gln363Ter Single submitter congenital myopathy 3 with rigid spine
p.Gln475Ter Single submitter SELENON-related disorder
p.Gln61fs Single submitter congenital myopathy 3 with rigid spine
p.Glu360fs Single submitter congenital myopathy 3 with rigid spine
p.Glu54Ter Single submitter congenital myopathy 3 with rigid spine
p.Gly2fs Single submitter congenital myopathy 3 with rigid spine
p.Gly7fs Single submitter congenital myopathy 3 with rigid spine
p.Met1fs Single submitter congenital myopathy 3 with rigid spine
p.Met1Leu Single submitter congenital myopathy 3 with rigid spine
p.Met1Thr Single submitter congenital myopathy 3 with rigid spine
p.Pro115fs Single submitter congenital myopathy 3 with rigid spine
p.Pro329fs Single submitter congenital myopathy 3 with rigid spine
p.Ser102fs Single submitter congenital myopathy 3 with rigid spine
p.Ser102Ter Single submitter congenital myopathy 3 with rigid spine
p.Trp157Ter Single submitter congenital myopathy 3 with rigid spine
p.Trp188Ter Single submitter congenital myopathy 3 with rigid spine
p.Trp273fs Single submitter congenital myopathy 3 with rigid spine
p.Trp273Ter Single submitter congenital myopathy 3 with rigid spine
p.Trp419Ter Single submitter congenital myopathy 3 with rigid spine
p.Tyr200fs Single submitter congenital myopathy 3 with rigid spine
p.Tyr396Ter Single submitter
p.Val323fs Single submitter congenital myopathy 3 with rigid spine
p.Val340fs Single submitter congenital myopathy 3 with rigid spine
c.1384T>G No assertion criteria congenital myopathy 3 with rigid spine
p.Gly239Glu No assertion criteria congenital myopathy 3 with rigid spine
p.Leu356fs No assertion criteria congenital myopathy 3 with rigid spine
p.Met224fs No assertion criteria congenital myopathy 3 with rigid spine
p.Sec462= No assertion criteria congenital myopathy 3 with rigid spine

Pathogenic/Likely pathogenic 30

c.1285+1G>A Multiple submitters congenital myopathy 3 with rigid spine
c.646-2_658del Multiple submitters congenital myopathy 3 with rigid spine
c.770+2T>C Multiple submitters congenital myopathy 3 with rigid spine
c.908+1G>A Multiple submitters congenital myopathy 3 with rigid spine
c.*1107T>C Multiple submitters congenital myopathy 3 with rigid spine
p.Ala4fs Multiple submitters congenital myopathy 3 with rigid spine
p.Arg127Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Arg155Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Arg234Cys Multiple submitters congenital myopathy 3 with rigid spine
p.Arg257Gln Multiple submitters congenital myopathy 3 with rigid spine
p.Arg432Gln Multiple submitters SELENON-related disorder
p.Arg435Gln Multiple submitters SELENON-related disorder
p.Arg435Trp Multiple submitters congenital myopathy 3 with rigid spine
p.Asn410del Multiple submitters congenital myopathy 3 with rigid spine
p.Asn449fs Multiple submitters congenital myopathy 3 with rigid spine
p.Gln425Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Gln56Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Glu332Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Glu374Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Gly239Arg Multiple submitters congenital myopathy 3 with rigid spine
p.Gly281Ser Multiple submitters SELENON-related disorder
p.His259Arg Multiple submitters SEPN1-related disorder
p.Lys370fs Multiple submitters congenital myopathy 3 with rigid spine
p.Met1Arg Multiple submitters congenital myopathy 3 with rigid spine
p.Met1Lys Multiple submitters congenital myopathy 3 with rigid spine
p.Met1Val Multiple submitters congenital fiber-type disproportion myopathy
p.Trp456Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Tyr251Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Val254fs Multiple submitters congenital myopathy 3 with rigid spine
p.Val48fs Multiple submitters congenital myopathy 3 with rigid spine

Likely pathogenic 25

c.436-1G>A Multiple submitters congenital myopathy 3 with rigid spine
c.909-1G>C Multiple submitters congenital myopathy 3 with rigid spine
p.Ala242_Cys243insSer Multiple submitters congenital myopathy 4A, autosomal dominant
c.1180-2A>C Single submitter congenital myopathy 3 with rigid spine
c.1384T>C Single submitter congenital myopathy 3 with rigid spine
c.184-2A>G Single submitter
c.301+854_301+855del Single submitter congenital myopathy 3 with rigid spine
c.301+855G>C Single submitter congenital myopathy 3 with rigid spine
c.436-1G>C Single submitter congenital myopathy 3 with rigid spine
c.770+1G>A Single submitter congenital myopathy 3 with rigid spine
p.Asn467fs Single submitter congenital myopathy 3 with rigid spine
p.Asp82Ter Single submitter congenital myopathy 3 with rigid spine
p.Gly281Asp Single submitter congenital myopathy 3 with rigid spine
p.Leu75fs Single submitter congenital myopathy 3 with rigid spine
p.Leu79Ter Single submitter
p.Met491Lys Single submitter
p.Phe167fs Single submitter congenital myopathy 3 with rigid spine
p.Phe256fs Single submitter Abnormality of the musculature
p.Phe403fs Single submitter SELENON-related disorder
p.Pro208fs Single submitter
p.Thr245fs Single submitter congenital myopathy 3 with rigid spine
p.Trp419Cys Single submitter
p.Trp419Ser Single submitter congenital myopathy 3 with rigid spine
p.Val365fs Single submitter congenital myopathy 3 with rigid spine
p.Ser77fs No assertion criteria congenital myopathy 3 with rigid spine

Conflicting classifications of pathogenicity 44

c.1398+7G>A Single submitter congenital myopathy 3 with rigid spine
c.1399-1G>A Single submitter congenital myopathy 3 with rigid spine
c.1500+14C>T Single submitter SEPN1-related disorder
c.1500+1G>A Single submitter congenital myopathy 3 with rigid spine
c.1501-14G>A Single submitter congenital myopathy 3 with rigid spine
c.301+926G>A Single submitter congenital myopathy 3 with rigid spine
c.301+956_301+959del Single submitter congenital myopathy 3 with rigid spine
c.301+956G>A Single submitter congenital myopathy 3 with rigid spine
c.771-2A>G Single submitter congenital myopathy 3 with rigid spine
c.-35T>C Single submitter SEPN1-related disorder
c.*267C>G Single submitter SEPN1-related disorder
p.Ala105Thr Single submitter SEPN1-related disorder
p.Ala105Val Single submitter Inborn genetic diseases
p.Ala150Pro Single submitter SEPN1-related disorder
p.Ala28Ser Single submitter Inborn genetic diseases
p.Arg205His Single submitter SEPN1-related disorder
p.Arg257Trp Single submitter congenital myopathy 3 with rigid spine
p.Arg27= Single submitter congenital myopathy 3 with rigid spine
p.Arg3= Single submitter congenital myopathy 3 with rigid spine
p.Arg432Trp Single submitter congenital myopathy 3 with rigid spine
p.Asn507= Single submitter congenital myopathy 3 with rigid spine
p.Asp269Asn Single submitter congenital myopathy 3 with rigid spine
p.Glu112dup Single submitter congenital myopathy 3 with rigid spine
p.Glu261Lys Single submitter congenital myopathy 3 with rigid spine
p.Glu518Lys Single submitter SEPN1-related disorder
p.Gly281Arg Single submitter congenital myopathy 3 with rigid spine
p.Gly337Asp Single submitter congenital fiber-type disproportion myopathy
p.Gly35Arg Single submitter Inborn genetic diseases
p.Gly498= Single submitter congenital myopathy 3 with rigid spine
p.Ile512= Single submitter congenital myopathy 3 with rigid spine
p.Leu183= Single submitter congenital myopathy 3 with rigid spine
p.Met491Arg Single submitter congenital myopathy 3 with rigid spine
p.Pro209= Single submitter SEPN1-related disorder
p.Pro20Leu Single submitter Inborn genetic diseases
p.Pro210= Single submitter SEPN1-related disorder
p.Pro534= Single submitter SEPN1-related disorder
p.Ser350del Single submitter congenital myopathy 3 with rigid spine
p.Ser426Phe Single submitter congenital myopathy 3 with rigid spine
p.Ser442= Single submitter SEPN1-related disorder
p.Ser442Leu Single submitter congenital myopathy 3 with rigid spine
p.Thr121= Single submitter congenital myopathy 3 with rigid spine
p.Thr336= Single submitter SEPN1-related disorder
p.Thr536= Single submitter SEPN1-related disorder
p.Thr538Asn Single submitter congenital myopathy 3 with rigid spine

Benign 58

c.1179+81A>G Multiple submitters
c.1180-41C>T Multiple submitters congenital myopathy 3 with rigid spine
c.1285+109A>G Multiple submitters
c.1285+11C>T Multiple submitters SEPN1-related disorder
c.1285+161G>A Multiple submitters
c.1501-65G>C Multiple submitters
c.183+116G>A Multiple submitters
c.184-109G>A Multiple submitters
c.301+656C>T Multiple submitters
c.770+100C>G Multiple submitters
c.908+72A>G Multiple submitters
c.908+76G>A Multiple submitters
c.909-103T>A Multiple submitters
c.991-46C>A Multiple submitters congenital myopathy 3 with rigid spine
c.-42T>C Multiple submitters
c.*144C>G Multiple submitters SEPN1-related disorder
c.*1612T>C Multiple submitters SEPN1-related disorder
c.*1722T>C Multiple submitters SEPN1-related disorder
c.*2465G>A Multiple submitters SEPN1-related disorder
p.Arg548Gln Multiple submitters SEPN1-related disorder
p.Asn468Lys Multiple submitters SEPN1-related disorder
p.Cys108Tyr Multiple submitters SEPN1-related disorder
p.Pro14= Multiple submitters SEPN1-related disorder
p.Pro357= Multiple submitters SEPN1-related disorder
p.Thr103Ala Multiple submitters SEPN1-related disorder
c.1179+291A>G Single submitter
c.1180-122AC[17] Single submitter
c.1180-122AC[22] Single submitter
c.1180-122AC[23] Single submitter
c.1180-122AC[24] Single submitter
c.1180-122AC[25] Single submitter
c.1180-123_1180-102del Single submitter
c.1180-123_1180-108del Single submitter
c.1180-123_1180-114del Single submitter
c.1180-206_1180-205insCATA Single submitter
c.1180-224AC[4] Single submitter
c.1180-247A>G Single submitter
c.1500+125A>G Single submitter
c.1501-236G>T Single submitter
c.183+298T>G Single submitter
c.183+299T>C Single submitter
c.301+848del Single submitter
c.301+848dup Single submitter
c.302-174G>A Single submitter
c.436-145C>G Single submitter
c.436-170G>A Single submitter
c.436-253_436-209del Single submitter
c.436-282GCCTGGGTGGGCTGT[3] Single submitter
c.770+215T>C Single submitter
c.771-261T>C Single submitter
c.908+141A>C Single submitter
c.-347A>G Single submitter
c.*1500G>A Single submitter SEPN1-related disorder
c.*2043G>T Single submitter SEPN1-related disorder
c.*2130C>T Single submitter SEPN1-related disorder
c.*501G>A Single submitter SEPN1-related disorder
c.*698T>C Single submitter SEPN1-related disorder
p.Ala160Pro Single submitter congenital myopathy 3 with rigid spine

Benign/Likely benign 13

c.1180-10G>A Multiple submitters congenital myopathy 3 with rigid spine
c.1399-31C>T Multiple submitters
c.645+39C>T Multiple submitters
c.990+16G>C Multiple submitters congenital myopathy 3 with rigid spine
c.990+6C>G Multiple submitters SEPN1-related disorder
c.*228C>T Multiple submitters SEPN1-related disorder
p.Ala161Thr Multiple submitters SEPN1-related disorder
p.Arg293= Multiple submitters SEPN1-related disorder
p.Phe250= Multiple submitters congenital myopathy 3 with rigid spine
p.Ser248= Multiple submitters congenital myopathy 3 with rigid spine
p.Ser354Gly Multiple submitters congenital myopathy 3 with rigid spine
p.Ser451= Multiple submitters congenital myopathy 3 with rigid spine
p.Val515Met Multiple submitters congenital myopathy 3 with rigid spine

Likely benign 259

c.1179+15G>T Multiple submitters congenital myopathy 3 with rigid spine
c.1179+42G>A Multiple submitters
c.1398+8G>A Multiple submitters congenital myopathy 3 with rigid spine
c.183+11G>A Multiple submitters congenital myopathy 3 with rigid spine
c.301+114G>T Multiple submitters
c.301+18C>T Multiple submitters congenital myopathy 3 with rigid spine
c.435+16C>T Multiple submitters congenital myopathy 3 with rigid spine
c.435+205C>T Multiple submitters
c.436-7G>A Multiple submitters congenital myopathy 3 with rigid spine
c.645+20G>A Multiple submitters congenital myopathy 3 with rigid spine
c.646-12C>T Multiple submitters congenital myopathy 3 with rigid spine
c.646-40G>A Multiple submitters
c.646-7C>T Multiple submitters
c.646-9C>T Multiple submitters congenital myopathy 3 with rigid spine
c.908+7G>A Multiple submitters congenital myopathy 3 with rigid spine
c.909-128G>T Multiple submitters
c.*2336A>T Multiple submitters SEPN1-related disorder
c.*44G>T Multiple submitters SEPN1-related disorder
c.*938C>T Multiple submitters SEPN1-related disorder
p.Ala18= Multiple submitters congenital myopathy 3 with rigid spine
p.Ala57= Multiple submitters congenital myopathy 3 with rigid spine
p.Arg205= Multiple submitters congenital myopathy 3 with rigid spine
p.Asp511= Multiple submitters congenital myopathy 3 with rigid spine
p.His414= Multiple submitters congenital myopathy 3 with rigid spine
p.Leu149= Multiple submitters congenital myopathy 3 with rigid spine
p.Phe197= Multiple submitters congenital myopathy 3 with rigid spine
p.Phe403= Multiple submitters congenital myopathy 3 with rigid spine
p.Pro104= Multiple submitters congenital myopathy 3 with rigid spine
p.Pro133= Multiple submitters Inborn genetic diseases
p.Pro267= Multiple submitters congenital myopathy 3 with rigid spine
p.Ser152= Multiple submitters congenital myopathy 3 with rigid spine
p.Ser342= Multiple submitters congenital myopathy 3 with rigid spine
p.Ser514= Multiple submitters congenital myopathy 3 with rigid spine
p.Tyr313= Multiple submitters congenital myopathy 3 with rigid spine
c.1179+11G>A Single submitter congenital myopathy 3 with rigid spine
c.1179+7C>T Single submitter congenital myopathy 3 with rigid spine
c.1180-122AC[26] Single submitter
c.1180-123_1180-110del Single submitter
c.1180-123_1180-112del Single submitter
c.1180-123_1180-118del Single submitter
c.1180-123_1180-122del Single submitter
c.1180-12G>A Single submitter congenital myopathy 3 with rigid spine
c.1180-13G>C Single submitter congenital myopathy 3 with rigid spine
c.1180-14C>T Single submitter congenital myopathy 3 with rigid spine
c.1180-225T>C Single submitter
c.1180-89_1180-83del Single submitter
c.1285+12G>A Single submitter congenital myopathy 3 with rigid spine
c.1285+14C>G Single submitter congenital myopathy 3 with rigid spine
c.1286-12C>T Single submitter congenital myopathy 3 with rigid spine
c.1286-6G>C Single submitter congenital myopathy 3 with rigid spine
c.1286-7dup Single submitter congenital myopathy 3 with rigid spine
c.1286-7T>C Single submitter congenital myopathy 3 with rigid spine
c.1286-8C>G Single submitter congenital myopathy 3 with rigid spine
c.1398+16G>A Single submitter congenital myopathy 3 with rigid spine
c.1398+20del Single submitter congenital myopathy 3 with rigid spine
c.1399-7C>T Single submitter congenital myopathy 3 with rigid spine
c.1500+10C>G Single submitter congenital myopathy 3 with rigid spine
c.1500+12C>T Single submitter
c.1500+12del Single submitter congenital myopathy 3 with rigid spine
c.1500+13A>G Single submitter congenital myopathy 3 with rigid spine
c.1500+16C>T Single submitter congenital myopathy 3 with rigid spine
c.1500+17A>G Single submitter congenital myopathy 3 with rigid spine
c.1500+18G>A Single submitter congenital myopathy 3 with rigid spine
c.1501-15C>G Single submitter congenital myopathy 3 with rigid spine
c.1501-15C>T Single submitter congenital myopathy 3 with rigid spine
c.1501-9T>C Single submitter congenital myopathy 3 with rigid spine
c.183+10C>A Single submitter congenital myopathy 3 with rigid spine
c.183+10C>G Single submitter congenital myopathy 3 with rigid spine
c.183+141G>T Single submitter
c.183+14C>T Single submitter
c.183+176G>A Single submitter
c.183+23del Single submitter
c.183+7G>C Single submitter congenital myopathy 3 with rigid spine
c.183+8C>G Single submitter
c.184-10T>C Single submitter congenital myopathy 3 with rigid spine
c.184-12C>T Single submitter congenital myopathy 3 with rigid spine
c.184-16C>G Single submitter congenital myopathy 3 with rigid spine
c.184-18G>A Single submitter congenital myopathy 3 with rigid spine
c.184-4G>A Single submitter congenital myopathy 3 with rigid spine
c.301+1004T>A Single submitter
c.301+19G>A Single submitter congenital myopathy 3 with rigid spine
c.301+20del Single submitter congenital myopathy 3 with rigid spine
c.301+20G>T Single submitter congenital myopathy 3 with rigid spine
c.301+4_301+6dup Single submitter congenital myopathy 3 with rigid spine
c.301+6A>T Single submitter
c.301+838T>C Single submitter congenital myopathy 3 with rigid spine
c.301+839T>C Single submitter congenital myopathy 3 with rigid spine
c.301+840T>C Single submitter congenital myopathy 3 with rigid spine
c.301+840T>G Single submitter congenital myopathy 3 with rigid spine
c.301+841_301+842insC Single submitter
c.301+878T>C Single submitter congenital myopathy 3 with rigid spine
c.301+893C>T Single submitter congenital myopathy 3 with rigid spine
c.301+8GA[2] Single submitter
c.301+932T>C Single submitter congenital myopathy 3 with rigid spine
c.301+944C>T Single submitter congenital myopathy 3 with rigid spine
c.301+947C>T Single submitter congenital myopathy 3 with rigid spine
c.301+971C>T Single submitter congenital myopathy 3 with rigid spine
c.301+972dup Single submitter congenital myopathy 3 with rigid spine
c.302-115C>T Single submitter
c.302-18G>A Single submitter congenital myopathy 3 with rigid spine
c.302-19C>T Single submitter congenital myopathy 3 with rigid spine
c.302-23dup Single submitter
c.302-329G>A Single submitter
c.302-7C>A Single submitter congenital myopathy 3 with rigid spine
c.436-10C>T Single submitter congenital myopathy 3 with rigid spine
c.436-11C>G Single submitter congenital myopathy 3 with rigid spine
c.436-156C>T Single submitter
c.436-4C>G Single submitter congenital myopathy 3 with rigid spine
c.436-8C>T Single submitter congenital myopathy 3 with rigid spine
c.645+16G>C Single submitter congenital myopathy 3 with rigid spine
c.645+19C>T Single submitter congenital myopathy 3 with rigid spine
c.645+8C>T Single submitter
c.646-11G>A Single submitter congenital myopathy 3 with rigid spine
c.646-12del Single submitter congenital myopathy 3 with rigid spine
c.646-20G>A Single submitter congenital myopathy 3 with rigid spine
c.646-4C>G Single submitter
c.646-6C>T Single submitter congenital myopathy 3 with rigid spine
c.646-8G>A Single submitter congenital myopathy 3 with rigid spine
c.770+13C>T Single submitter congenital myopathy 3 with rigid spine
c.770+15C>A Single submitter congenital myopathy 3 with rigid spine
c.770+17G>T Single submitter congenital myopathy 3 with rigid spine
c.770+19C>T Single submitter congenital myopathy 3 with rigid spine
c.770+7G>A Single submitter congenital myopathy 3 with rigid spine
c.771-168C>T Single submitter
c.771-7C>T Single submitter congenital myopathy 3 with rigid spine
c.908+18G>A Single submitter congenital myopathy 3 with rigid spine
c.908+20C>T Single submitter
c.908+7G>T Single submitter congenital myopathy 3 with rigid spine
c.908+8C>T Single submitter congenital myopathy 3 with rigid spine
c.909-10G>A Single submitter congenital myopathy 3 with rigid spine
c.909-181T>C Single submitter
c.990+10C>T Single submitter congenital myopathy 3 with rigid spine
c.990+7G>A Single submitter congenital myopathy 3 with rigid spine
c.990+8C>T Single submitter congenital myopathy 3 with rigid spine
c.991-11C>T Single submitter congenital myopathy 3 with rigid spine
c.991-18C>T Single submitter congenital myopathy 3 with rigid spine
c.991-45T>C Single submitter
c.991-5C>T Single submitter
c.-14_-5dup Single submitter
c.-1C>T Single submitter
c.-22_-13dup Single submitter
c.-23G>C Single submitter
c.-58_-47dupCGGCCCCGCCCC Single submitter
c.*1306G>A Single submitter SEPN1-related disorder
c.*17C>A Single submitter
c.*1831A>G Single submitter SEPN1-related disorder
c.*1944T>C Single submitter SEPN1-related disorder
c.*2312T>C Single submitter SEPN1-related disorder
c.*267C>A Single submitter SEPN1-related disorder
c.*316C>T Single submitter SEPN1-related disorder
c.*63C>T Single submitter SEPN1-related disorder
c.*646A>G Single submitter SEPN1-related disorder
c.*771G>A Single submitter SEPN1-related disorder
c.*780C>T Single submitter SEPN1-related disorder
c.*855C>T Single submitter SEPN1-related disorder
p.Ala106= Single submitter congenital myopathy 3 with rigid spine
p.Ala159= Single submitter congenital myopathy 3 with rigid spine
p.Ala160= Single submitter congenital myopathy 3 with rigid spine
p.Ala17= Single submitter congenital myopathy 3 with rigid spine
p.Ala22= Single submitter
p.Ala242= Single submitter congenital myopathy 3 with rigid spine
p.Ala260= Single submitter congenital myopathy 3 with rigid spine
p.Ala36= Single submitter congenital myopathy 3 with rigid spine
p.Ala4= Single submitter congenital myopathy 3 with rigid spine
p.Ala41= Single submitter congenital myopathy 3 with rigid spine
p.Ala42= Single submitter congenital myopathy 3 with rigid spine
p.Ala506= Single submitter congenital myopathy 3 with rigid spine
p.Asn203= Single submitter
p.Asn449= Single submitter congenital myopathy 3 with rigid spine
p.Asp269= Single submitter congenital myopathy 3 with rigid spine
p.Asp404= Single submitter
p.Asp82= Single submitter congenital myopathy 3 with rigid spine
p.Glu185= Single submitter congenital myopathy 3 with rigid spine
p.Glu193= Single submitter congenital myopathy 3 with rigid spine
p.Glu379= Single submitter
p.Glu518= Single submitter congenital myopathy 3 with rigid spine
p.Glu62= Single submitter congenital myopathy 3 with rigid spine
p.Glu90= Single submitter congenital myopathy 3 with rigid spine
p.Gly10= Single submitter congenital myopathy 3 with rigid spine
p.Gly142= Single submitter congenital myopathy 3 with rigid spine
p.Gly337= Single submitter congenital myopathy 3 with rigid spine
p.Gly359= Single submitter congenital myopathy 3 with rigid spine
p.Gly420= Single submitter congenital myopathy 3 with rigid spine
p.Gly72= Single submitter congenital myopathy 3 with rigid spine
p.His282= Single submitter
p.His291= Single submitter congenital myopathy 3 with rigid spine
p.His503= Single submitter congenital myopathy 3 with rigid spine
p.His52= Single submitter congenital myopathy 3 with rigid spine
p.Ile190= Single submitter congenital myopathy 3 with rigid spine
p.Ile217= Single submitter congenital myopathy 3 with rigid spine
p.Ile325= Single submitter congenital myopathy 3 with rigid spine
p.Ile352= Single submitter congenital myopathy 3 with rigid spine
p.Ile520= Single submitter congenital myopathy 3 with rigid spine
p.Leu122= Single submitter congenital myopathy 3 with rigid spine
p.Leu151= Single submitter congenital myopathy 3 with rigid spine
p.Leu176= Single submitter congenital myopathy 3 with rigid spine
p.Leu194= Single submitter congenital myopathy 3 with rigid spine
p.Leu201= Single submitter congenital myopathy 3 with rigid spine
p.Leu285= Single submitter congenital myopathy 3 with rigid spine
p.Leu305= Single submitter
p.Leu31= Single submitter
p.Leu33= Single submitter congenital myopathy 3 with rigid spine
p.Leu34= Single submitter congenital myopathy 3 with rigid spine
p.Leu356= Single submitter congenital myopathy 3 with rigid spine
p.Leu37= Single submitter congenital myopathy 3 with rigid spine
p.Leu375= Single submitter congenital myopathy 3 with rigid spine
p.Leu412= Single submitter congenital myopathy 3 with rigid spine
p.Leu417= Single submitter congenital myopathy 3 with rigid spine
p.Leu418= Single submitter congenital myopathy 3 with rigid spine
p.Leu439= Single submitter congenital myopathy 3 with rigid spine
p.Leu524= Single submitter congenital myopathy 3 with rigid spine
p.Leu553= Single submitter congenital myopathy 3 with rigid spine
p.Leu554= Single submitter congenital myopathy 3 with rigid spine
p.Leu68= Single submitter congenital myopathy 3 with rigid spine
p.Leu75= Single submitter congenital myopathy 3 with rigid spine
p.Lys214= Single submitter congenital myopathy 3 with rigid spine
p.Lys411= Single submitter congenital myopathy 3 with rigid spine
p.Phe172= Single submitter congenital myopathy 3 with rigid spine
p.Phe175= Single submitter congenital myopathy 3 with rigid spine
p.Phe298= Single submitter congenital myopathy 3 with rigid spine
p.Phe399= Single submitter congenital myopathy 3 with rigid spine
p.Phe487= Single submitter congenital myopathy 3 with rigid spine
p.Phe92= Single submitter congenital myopathy 3 with rigid spine
p.Pro11= Single submitter congenital myopathy 3 with rigid spine
p.Pro12= Single submitter congenital myopathy 3 with rigid spine
p.Pro177= Single submitter congenital myopathy 3 with rigid spine
p.Pro178= Single submitter congenital myopathy 3 with rigid spine
p.Pro186= Single submitter congenital myopathy 3 with rigid spine
p.Pro191= Single submitter congenital myopathy 3 with rigid spine
p.Pro208= Single submitter congenital myopathy 3 with rigid spine
p.Pro268= Single submitter congenital myopathy 3 with rigid spine
p.Pro390= Single submitter
p.Pro398= Single submitter congenital myopathy 3 with rigid spine
p.Pro488= Single submitter congenital myopathy 3 with rigid spine
p.Pro517= Single submitter congenital myopathy 3 with rigid spine
p.Pro552= Single submitter congenital myopathy 3 with rigid spine
p.Pro6= Single submitter congenital myopathy 3 with rigid spine
p.Pro6Ser Single submitter congenital myopathy 3 with rigid spine
p.Ser118= Single submitter congenital myopathy 3 with rigid spine
p.Ser13= Single submitter congenital myopathy 3 with rigid spine
p.Ser202= Single submitter congenital myopathy 3 with rigid spine
p.Ser265= Single submitter congenital myopathy 3 with rigid spine
p.Ser319= Single submitter congenital myopathy 3 with rigid spine
p.Ser350= Single submitter congenital myopathy 3 with rigid spine
p.Ser472= Single submitter congenital myopathy 3 with rigid spine
p.Ser473= Single submitter
p.Thr169= Single submitter congenital myopathy 3 with rigid spine
p.Thr280= Single submitter congenital myopathy 3 with rigid spine
p.Thr400= Single submitter congenital myopathy 3 with rigid spine
p.Thr437= Single submitter congenital myopathy 3 with rigid spine
p.Thr499= Single submitter congenital myopathy 3 with rigid spine
p.Tyr252= Single submitter congenital myopathy 3 with rigid spine
p.Tyr389= Single submitter congenital myopathy 3 with rigid spine
p.Val254= Single submitter congenital myopathy 3 with rigid spine
p.Val307= Single submitter congenital myopathy 3 with rigid spine
p.Val340= Single submitter congenital myopathy 3 with rigid spine
p.Val365= Single submitter congenital myopathy 3 with rigid spine
p.Val413= Single submitter congenital myopathy 3 with rigid spine
p.Val501= Single submitter congenital myopathy 3 with rigid spine

Uncertain significance 316

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

c.1286-3C>T Multiple submitters congenital myopathy 3 with rigid spine
c.183+14C>G Multiple submitters congenital myopathy 3 with rigid spine
c.184-3C>T Multiple submitters congenital myopathy 3 with rigid spine
c.-12C>T Multiple submitters
c.-14C>A Multiple submitters SEPN1-related disorder
c.*2047G>A Multiple submitters SEPN1-related disorder
p.Ala150Thr Multiple submitters Inborn genetic diseases
p.Ala160Thr Multiple submitters Inborn genetic diseases
p.Ala160Val Multiple submitters Inborn genetic diseases
p.Ala22Val Multiple submitters Inborn genetic diseases
p.Ala240Gly Multiple submitters congenital myopathy 3 with rigid spine
p.Ala42_Ala45dup Multiple submitters congenital myopathy 3 with rigid spine
p.Ala478Val Multiple submitters Inborn genetic diseases
p.Ala4Pro Multiple submitters Inborn genetic diseases
p.Ala55Val Multiple submitters SEPN1-related disorder
p.Arg127Gln Multiple submitters Pain
p.Arg148Cys Multiple submitters Inborn genetic diseases
p.Arg148His Multiple submitters congenital myopathy 3 with rigid spine
p.Arg170Cys Multiple submitters Inborn genetic diseases
p.Arg205Cys Multiple submitters congenital myopathy 3 with rigid spine
p.Arg220Gln Multiple submitters Inborn genetic diseases
p.Arg220Gly Multiple submitters Inborn genetic diseases
p.Arg220Pro Multiple submitters Inborn genetic diseases
p.Arg220Trp Multiple submitters Inborn genetic diseases
p.Arg228Trp Multiple submitters congenital myopathy 3 with rigid spine
p.Arg293His Multiple submitters Inborn genetic diseases
p.Arg296Gln Multiple submitters Inborn genetic diseases
p.Arg296Trp Multiple submitters congenital myopathy 3 with rigid spine
p.Arg29His Multiple submitters Inborn genetic diseases
p.Arg382Gln Multiple submitters Inborn genetic diseases
p.Arg382Trp Multiple submitters Inborn genetic diseases
p.Arg383Cys Multiple submitters congenital myopathy 3 with rigid spine
p.Arg548Trp Multiple submitters Inborn genetic diseases
p.Arg549His Multiple submitters congenital myopathy 3 with rigid spine
p.Asn203Lys Multiple submitters Inborn genetic diseases
p.Asn497Ser Multiple submitters Inborn genetic diseases
p.Asp404Asn Multiple submitters Inborn genetic diseases
p.Cys49Tyr Multiple submitters Inborn genetic diseases
p.Gln278Arg Multiple submitters Inborn genetic diseases
p.Gln363His Multiple submitters congenital myopathy 3 with rigid spine
p.Gln466Glu Multiple submitters congenital myopathy 3 with rigid spine
p.Gln555Ter Multiple submitters congenital myopathy 3 with rigid spine
p.Glu109Lys Multiple submitters SEPN1-related disorder
p.Glu110Lys Multiple submitters congenital myopathy 3 with rigid spine
p.Glu119Lys Multiple submitters Inborn genetic diseases
p.Glu450Lys Multiple submitters congenital myopathy 3 with rigid spine
p.Glu470del Multiple submitters congenital myopathy 3 with rigid spine
p.Glu521Lys Multiple submitters congenital myopathy 3 with rigid spine
p.Glu545Lys Multiple submitters congenital myopathy 3 with rigid spine
p.Gly153Ser Multiple submitters congenital myopathy 3 with rigid spine
p.Gly2Cys Multiple submitters Inborn genetic diseases
p.Gly326Ser Multiple submitters Inborn genetic diseases
p.Gly69Arg Multiple submitters congenital myopathy 3 with rigid spine
p.Gly69Glu Multiple submitters Inborn genetic diseases
p.His171Pro Multiple submitters Inborn genetic diseases
p.His474Gln Multiple submitters Inborn genetic diseases
p.His502Arg Multiple submitters congenital myopathy 3 with rigid spine
p.Ile124Thr Multiple submitters congenital myopathy 3 with rigid spine
p.Ile325Val Multiple submitters Inborn genetic diseases
p.Ile352Met Multiple submitters Inborn genetic diseases
p.Ile416Met Multiple submitters Inborn genetic diseases
p.Ile416Val Multiple submitters Inborn genetic diseases
p.Ile512Val Multiple submitters congenital myopathy 3 with rigid spine
p.Leu183Pro Multiple submitters congenital myopathy 3 with rigid spine
p.Leu412Pro Multiple submitters congenital myopathy 3 with rigid spine
p.Leu417Val Multiple submitters congenital myopathy 3 with rigid spine
p.Leu543Pro Multiple submitters congenital myopathy 3 with rigid spine
p.Lys212Arg Multiple submitters Inborn genetic diseases
p.Met85Val Multiple submitters Inborn genetic diseases
p.Phe399Val Multiple submitters congenital myopathy 3 with rigid spine
p.Phe92Leu Multiple submitters Inborn genetic diseases
p.Pro133Leu Multiple submitters congenital myopathy 3 with rigid spine
p.Pro178Leu Multiple submitters congenital myopathy 3 with rigid spine
p.Pro209Leu Multiple submitters Inborn genetic diseases
p.Pro20Ser Multiple submitters congenital myopathy 3 with rigid spine
p.Pro267Leu Multiple submitters congenital myopathy 3 with rigid spine
p.Pro398Leu Multiple submitters Inborn genetic diseases
p.Pro534Leu Multiple submitters congenital myopathy 3 with rigid spine
p.Ser118Ile Multiple submitters congenital myopathy 3 with rigid spine
p.Ser316Thr Multiple submitters congenital myopathy 3 with rigid spine
p.Ser358Leu Multiple submitters Inborn genetic diseases
p.Ser472Leu Multiple submitters Inborn genetic diseases
p.Thr121Met Multiple submitters congenital myopathy 3 with rigid spine
p.Thr336Ser Multiple submitters congenital myopathy 3 with rigid spine
p.Thr530Ile Multiple submitters Inborn genetic diseases
p.Tyr327Cys Multiple submitters SEPN1-related disorder
p.Tyr86Cys Multiple submitters congenital myopathy 3 with rigid spine
p.Val292Ile Multiple submitters congenital myopathy 3 with rigid spine
p.Val343Met Multiple submitters Inborn genetic diseases
p.Val413Met Multiple submitters congenital myopathy 3 with rigid spine
p.Val489Met Multiple submitters congenital myopathy 3 with rigid spine
c.1179+15_1179+25dup Single submitter congenital myopathy 3 with rigid spine
c.1180-3C>G Single submitter congenital myopathy 3 with rigid spine
c.1180-3C>T Single submitter congenital myopathy 3 with rigid spine
c.1285+6G>A Single submitter congenital myopathy 3 with rigid spine
c.1286-1G>C Single submitter congenital myopathy 3 with rigid spine
c.1398+6C>T Single submitter congenital myopathy 3 with rigid spine
c.1500+4G>A Single submitter congenital myopathy 3 with rigid spine
c.1501-1G>C Single submitter congenital myopathy 3 with rigid spine
c.183+3C>T Single submitter congenital myopathy 3 with rigid spine
c.184-3C>G Single submitter congenital myopathy 3 with rigid spine
c.184-6A>C Single submitter congenital myopathy 3 with rigid spine
c.301+5C>T Single submitter congenital myopathy 3 with rigid spine
c.301+845T>A Single submitter SEPN1-related disorder
c.301+848_301+849delinsGA Single submitter
c.301+853C>G Single submitter congenital myopathy 3 with rigid spine
c.301+865C>T Single submitter congenital myopathy 3 with rigid spine
c.301+900A>T Single submitter congenital myopathy 3 with rigid spine
c.301+918C>T Single submitter congenital myopathy 3 with rigid spine
c.301+921C>T Single submitter congenital myopathy 3 with rigid spine
c.301+931A>G Single submitter congenital myopathy 3 with rigid spine
c.301+946T>G Single submitter congenital myopathy 3 with rigid spine
c.436-3C>T Single submitter congenital myopathy 3 with rigid spine
c.436-8C>A Single submitter congenital myopathy 3 with rigid spine
c.908+14C>G Single submitter SEPN1-related disorder
c.990+6C>T Single submitter congenital myopathy 3 with rigid spine
c.-19G>C Single submitter
c.-1C>A Single submitter SEPN1-related disorder
c.-6G>A Single submitter
c.*1000G>A Single submitter SEPN1-related disorder
c.*1200C>T Single submitter SEPN1-related disorder
c.*1231A>G Single submitter SEPN1-related disorder
c.*1251A>G Single submitter SEPN1-related disorder
c.*1333G>C Single submitter SEPN1-related disorder
c.*1357A>C Single submitter SEPN1-related disorder
c.*1406C>T Single submitter SEPN1-related disorder
c.*1435G>A Single submitter SEPN1-related disorder
c.*1622G>A Single submitter SEPN1-related disorder
c.*1652A>G Single submitter SEPN1-related disorder
c.*1672T>G Single submitter SEPN1-related disorder
c.*1731A>C Single submitter SEPN1-related disorder
c.*1782C>T Single submitter SEPN1-related disorder
c.*1787G>A Single submitter SEPN1-related disorder
c.*1807T>C Single submitter SEPN1-related disorder
c.*1840G>A Single submitter SEPN1-related disorder
c.*1985A>T Single submitter SEPN1-related disorder
c.*2158C>T Single submitter SEPN1-related disorder
c.*2207G>A Single submitter SEPN1-related disorder
c.*2236del Single submitter
c.*2257C>T Single submitter SEPN1-related disorder
c.*2403G>A Single submitter SEPN1-related disorder
c.*2437T>G Single submitter SEPN1-related disorder
c.*2475T>C Single submitter SEPN1-related disorder
c.*679C>T Single submitter SEPN1-related disorder
c.*686A>G Single submitter SEPN1-related disorder
c.*710C>T Single submitter SEPN1-related disorder
c.*754G>A Single submitter SEPN1-related disorder
c.*83G>A Single submitter SEPN1-related disorder
c.*942T>G Single submitter SEPN1-related disorder
c.*987T>C Single submitter SEPN1-related disorder
p.Ala105= Single submitter congenital myopathy 3 with rigid spine
p.Ala105Ser Single submitter Inborn genetic diseases
p.Ala106Val Single submitter Inborn genetic diseases
p.Ala159Thr Single submitter congenital myopathy 3 with rigid spine
p.Ala18Thr Single submitter Inborn genetic diseases
p.Ala240Pro Single submitter congenital myopathy 3 with rigid spine
p.Ala240Val Single submitter Inborn genetic diseases
p.Ala32Pro Single submitter congenital myopathy 3 with rigid spine
p.Ala381Thr Single submitter congenital myopathy 3 with rigid spine
p.Ala387Val Single submitter Inborn genetic diseases
p.Ala406Thr Single submitter
p.Ala40Val Single submitter Inborn genetic diseases
p.Ala42_Ala45del Single submitter
p.Ala421Ser Single submitter congenital myopathy 3 with rigid spine
p.Ala421Thr Single submitter congenital myopathy 3 with rigid spine
p.Ala421Val Single submitter Inborn genetic diseases
p.Ala43_Ala45dup Single submitter congenital myopathy 3 with rigid spine
p.Ala478Thr Single submitter congenital myopathy 3 with rigid spine
p.Ala4Ser Single submitter congenital myopathy 3 with rigid spine
p.Ala59Glu Single submitter congenital myopathy 3 with rigid spine
p.Arg155Gln Single submitter Inborn genetic diseases
p.Arg170His Single submitter congenital myopathy 3 with rigid spine
p.Arg205fs Single submitter
p.Arg228Gly Single submitter Inborn genetic diseases
p.Arg234Gly Single submitter
p.Arg257Pro Single submitter
p.Arg25Ser Single submitter Inborn genetic diseases
p.Arg293Cys Single submitter congenital myopathy 3 with rigid spine
p.Arg3Gly Single submitter congenital myopathy 3 with rigid spine
p.Arg3Trp Single submitter Inborn genetic diseases
p.Arg51His Single submitter congenital myopathy 3 with rigid spine
p.Arg548Gly Single submitter congenital myopathy 3 with rigid spine
p.Arg549Cys Single submitter congenital myopathy 3 with rigid spine
p.Arg5Gln Single submitter
p.Arg60Trp Single submitter congenital myopathy 3 with rigid spine
p.Asn301Ser Single submitter congenital myopathy 3 with rigid spine
p.Asn468Tyr Single submitter congenital myopathy 3 with rigid spine
p.Asn505Ile Single submitter Inborn genetic diseases
p.Asn507Ser Single submitter Inborn genetic diseases
p.Asp249Asn Single submitter congenital myopathy 3 with rigid spine
p.Asp294Asn Single submitter congenital myopathy 3 with rigid spine
p.Asp324Asn Single submitter congenital myopathy 3 with rigid spine
p.Asp353Asn Single submitter congenital myopathy 3 with rigid spine
p.Asp423Tyr Single submitter congenital myopathy 3 with rigid spine
p.Cys108Ser Single submitter Inborn genetic diseases
p.Gln181Arg Single submitter
p.Gln238Glu Single submitter congenital myopathy 3 with rigid spine
p.Gln238His Single submitter congenital myopathy 3 with rigid spine
p.Gln425His Single submitter congenital myopathy 3 with rigid spine
p.Gln56Pro Single submitter congenital myopathy 3 with rigid spine
p.Gln61= Single submitter
p.Gln8Pro Single submitter congenital myopathy 3 with rigid spine
p.Glu182Lys Single submitter Inborn genetic diseases
p.Glu193Gly Single submitter
p.Glu215Val Single submitter congenital myopathy 3 with rigid spine
p.Glu347Lys Single submitter SEPN1-related disorder
p.Glu368Asp Single submitter congenital myopathy 3 with rigid spine
p.Glu368del Single submitter congenital myopathy 3 with rigid spine
p.Glu374Lys Single submitter Inborn genetic diseases
p.Glu401Lys Single submitter Inborn genetic diseases
p.Glu440fs Single submitter congenital myopathy 3 with rigid spine
p.Glu440Gly Single submitter congenital myopathy 3 with rigid spine
p.Glu483del Single submitter congenital myopathy 3 with rigid spine
p.Glu483Lys Single submitter
p.Glu91Asp Single submitter congenital myopathy 3 with rigid spine
p.Glu91Lys Single submitter congenital myopathy 3 with rigid spine
p.Gly10Arg Single submitter congenital myopathy 3 with rigid spine
p.Gly142Asp Single submitter Inborn genetic diseases
p.Gly199Ser Single submitter congenital myopathy 3 with rigid spine
p.Gly314Arg Single submitter congenital myopathy 3 with rigid spine
p.Gly314Trp Single submitter congenital myopathy 3 with rigid spine
p.Gly326Cys Single submitter congenital myopathy 3 with rigid spine
p.Gly337Val Single submitter
p.Gly420Glu Single submitter
p.Gly7Asp Single submitter
p.Gly83Arg Single submitter congenital myopathy 3 with rigid spine
p.His171Tyr Single submitter Inborn genetic diseases
p.His259Tyr Single submitter congenital myopathy 3 with rigid spine
p.His414Asp Single submitter Inborn genetic diseases
p.Ile124Val Single submitter congenital myopathy 3 with rigid spine
p.Ile189Asn Single submitter congenital myopathy 3 with rigid spine
p.Ile247Met Single submitter congenital myopathy 4A, autosomal dominant
p.Ile258Asn Single submitter congenital myopathy 3 with rigid spine
p.Ile369Val Single submitter congenital myopathy 3 with rigid spine
p.Ile444Val Single submitter Inborn genetic diseases
p.Ile520Met Single submitter congenital myopathy 3 with rigid spine
p.Leu194Pro Single submitter Inborn genetic diseases
p.Leu297Pro Single submitter
p.Leu418Pro Single submitter congenital myopathy 3 with rigid spine
p.Leu422Arg Single submitter congenital myopathy 3 with rigid spine
p.Leu434Phe Single submitter Inborn genetic diseases
p.Leu447Pro Single submitter Inborn genetic diseases
p.Leu465Val Single submitter congenital myopathy 3 with rigid spine
p.Leu510Phe Single submitter
p.Leu547Ile Single submitter Inborn genetic diseases
p.Leu553Val Single submitter congenital myopathy 3 with rigid spine
p.Leu63Arg Single submitter congenital myopathy 3 with rigid spine
p.Leu99Gln Single submitter congenital myopathy 3 with rigid spine
p.Lys140Thr Single submitter congenital myopathy 3 with rigid spine
p.Lys516Asn Single submitter congenital myopathy 3 with rigid spine
p.Lys516Thr Single submitter congenital myopathy 3 with rigid spine
p.Met255Val Single submitter Inborn genetic diseases
p.Met331Thr Single submitter congenital myopathy 3 with rigid spine
p.Met491Ile Single submitter SEPN1-related disorder
p.Met492del Single submitter congenital myopathy 3 with rigid spine
p.Phe175Ala Single submitter congenital myopathy 3 with rigid spine
p.Phe175Ser Single submitter Inborn genetic diseases
p.Phe175Val Single submitter Inborn genetic diseases
p.Phe76Ser Single submitter congenital myopathy 3 with rigid spine
p.Pro11Leu Single submitter
p.Pro12Leu Single submitter congenital myopathy 3 with rigid spine
p.Pro130Ser Single submitter Inborn genetic diseases
p.Pro163Thr Single submitter Inborn genetic diseases
p.Pro16Thr Single submitter congenital myopathy 3 with rigid spine
p.Pro210Leu Single submitter Inborn genetic diseases
p.Pro210Ser Single submitter congenital myopathy 3 with rigid spine
p.Pro227Ser Single submitter congenital myopathy 3 with rigid spine
p.Pro237Ser Single submitter Inborn genetic diseases
p.Pro23Ser Single submitter Inborn genetic diseases
p.Pro271Ala Single submitter Inborn genetic diseases
p.Pro300Ala Single submitter Inborn genetic diseases
p.Pro329Leu Single submitter congenital myopathy 3 with rigid spine
p.Pro341Thr Single submitter congenital myopathy 3 with rigid spine
p.Pro390Thr Single submitter congenital myopathy 3 with rigid spine
p.Pro488Leu Single submitter congenital myopathy 3 with rigid spine
p.Pro496Leu Single submitter congenital myopathy 3 with rigid spine
p.Pro517Ala Single submitter congenital myopathy 3 with rigid spine
p.Pro556Leu Single submitter Inborn genetic diseases
p.Ser118Arg Single submitter congenital myopathy 3 with rigid spine
p.Ser147Phe Single submitter congenital myopathy 3 with rigid spine
p.Ser164Asn Single submitter Inborn genetic diseases
p.Ser195Thr Single submitter congenital myopathy 3 with rigid spine
p.Ser286Phe Single submitter congenital myopathy 3 with rigid spine
p.Ser318Asn Single submitter congenital myopathy 3 with rigid spine
p.Ser339Cys Single submitter congenital myopathy 3 with rigid spine
p.Ser395del Single submitter congenital myopathy 3 with rigid spine
p.Ser426Pro Single submitter congenital myopathy 3 with rigid spine
p.Ser442Trp Single submitter congenital myopathy 3 with rigid spine
p.Ser529Tyr Single submitter Inborn genetic diseases
p.Ter557Trp Single submitter
p.Thr103Ile Single submitter congenital myopathy 3 with rigid spine
p.Thr169Asn Single submitter congenital myopathy 3 with rigid spine
p.Thr169Ile Single submitter congenital myopathy 3 with rigid spine
p.Thr336Met Single submitter congenital myopathy 3 with rigid spine
p.Thr400Ser Single submitter congenital myopathy 3 with rigid spine
p.Thr455Asn Single submitter congenital myopathy 3 with rigid spine
p.Thr455fs Single submitter congenital myopathy 3 with rigid spine
p.Thr513Ile Single submitter
p.Thr67Asn Single submitter congenital myopathy 3 with rigid spine
p.Thr81Ser Single submitter congenital myopathy 3 with rigid spine