Sugi Variant

Sugi Variant/ANO5

ANO5 — 1520 ClinVar variants

All ClinVar germline ANO5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 596 flagged for review →

91 Pathogenic · 38 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 92 Conflicting · 70 Benign · 27 Benign/Likely benign · 393 Likely benign · 751 Uncertain significance

Full ANO5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 596

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

Predictors vs ClinVar 2

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

Predictors agree, ClinVar conflicts 35

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

Predictors lean, ClinVar uncertain 452

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 452

Predictors split 107

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

All ANO5 variants

Pathogenic 91

  • c.1898+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.41-1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ala432Gly Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg50Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg58Trp Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg758Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asn64fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp81Gly Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu36fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu330fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys102fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe578Ser Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr673Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ala144fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ala724_His725insTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg100fs Multiple submitters gnathodiaphyseal dysplasia
  • p.Arg279Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg74Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Cys356Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln771fs Multiple submitters gnathodiaphyseal dysplasia
  • p.Gly297Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ile300fs Multiple submitters Miyoshi muscular dystrophy 3
  • p.Met543fs Multiple submitters gnathodiaphyseal dysplasia
  • p.Phe507fs Multiple submitters ANO5-related disorder
  • p.Pro666fs Multiple submitters gnathodiaphyseal dysplasia
  • p.Ser506fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ser67fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ser726fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Trp469Ter Multiple submitters
  • p.Tyr362Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr86Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.1013+1G>A Single submitter gnathodiaphyseal dysplasia
  • c.2235+1G>A Single submitter
  • c.2415-2A>C Single submitter
  • c.2520+1G>A Single submitter gnathodiaphyseal dysplasia
  • p.Ala644fs Single submitter gnathodiaphyseal dysplasia
  • p.Arg270_Tyr271insTer Single submitter
  • p.Arg642Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg706Ter Single submitter Miyoshi muscular dystrophy 3
  • p.Asn701Ter Single submitter gnathodiaphyseal dysplasia
  • p.Asp88fs Single submitter gnathodiaphyseal dysplasia
  • p.Cys353Ter Single submitter gnathodiaphyseal dysplasia
  • p.Cys360Arg Single submitter gnathodiaphyseal dysplasia
  • p.Cys601Ter Single submitter gnathodiaphyseal dysplasia
  • p.Gln256Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln275Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln349Ter Single submitter gnathodiaphyseal dysplasia
  • p.Gln564Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln731fs Single submitter gnathodiaphyseal dysplasia
  • p.Gln824Ter Single submitter
  • p.Glu103fs Single submitter
  • p.Glu114fs Single submitter gnathodiaphyseal dysplasia
  • p.Glu138Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu595fs Single submitter gnathodiaphyseal dysplasia
  • p.Glu600fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu816Ter Single submitter
  • p.Glu8Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu95fs Single submitter gnathodiaphyseal dysplasia
  • p.Gly580fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gly625Ter Single submitter gnathodiaphyseal dysplasia
  • p.Gly665fs Single submitter
  • p.Ile292fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu329Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu330Ter Single submitter gnathodiaphyseal dysplasia
  • p.Leu398fs Single submitter gnathodiaphyseal dysplasia
  • p.Leu408fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Lys259Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Lys650fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Lys91Ter Single submitter gnathodiaphyseal dysplasia
  • p.Met470Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Met560fs Single submitter gnathodiaphyseal dysplasia
  • p.Phe531fs Single submitter
  • p.Phe82fs Single submitter gnathodiaphyseal dysplasia
  • p.Pro251fs Single submitter gnathodiaphyseal dysplasia
  • p.Ser372Ter Single submitter gnathodiaphyseal dysplasia
  • p.Ser462Ter Single submitter gnathodiaphyseal dysplasia
  • p.Ser515Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ser570Ter Single submitter
  • p.Trp258Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Trp393Ter Single submitter
  • p.Tyr246Ter Single submitter gnathodiaphyseal dysplasia
  • p.Tyr552Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr585Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr716fs Single submitter gnathodiaphyseal dysplasia
  • p.Tyr761delinsValTer Single submitter gnathodiaphyseal dysplasia
  • p.Tyr809Ter Single submitter gnathodiaphyseal dysplasia
  • p.Tyr811Ter Single submitter
  • p.Cys356Arg No assertion criteria gnathodiaphyseal dysplasia
  • p.Cys356Gly No assertion criteria gnathodiaphyseal dysplasia
  • p.Phe386fs No assertion criteria Miyoshi muscular dystrophy 3
  • p.Thr514Ile No assertion criteria gnathodiaphyseal dysplasia

Pathogenic/Likely pathogenic 38

  • c.1119+1G>T Multiple submitters ANO5-related disorder
  • c.1120-1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.1407+5G>A Multiple submitters gnathodiaphyseal dysplasia
  • c.1631-12_1631-2del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2236-2_2238dup Multiple submitters gnathodiaphyseal dysplasia
  • c.294+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.762+1G>A Multiple submitters ANO5-related disorder
  • p.Arg404Ter Multiple submitters ANO5-related disorder
  • p.Arg547Gln Multiple submitters gnathodiaphyseal dysplasia
  • p.Arg547Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg654Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg799Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Asp69fs Multiple submitters
  • p.Cys324fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Cys572Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Cys804Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln403Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Gln405Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln511Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Gln824fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu118fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gly518Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu669fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Met833Lys Multiple submitters ANO5-related disorder
  • p.Ser555Ile Multiple submitters ANO5-related disorder
  • p.Ser782Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Thr678fs Multiple submitters gnathodiaphyseal dysplasia
  • p.Trp363Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Trp655Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Trp655Cys Multiple submitters gnathodiaphyseal dysplasia
  • p.Trp655Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Tyr23Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr271Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr282Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr453Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr589Ter Multiple submitters gnathodiaphyseal dysplasia
  • p.Tyr652Cys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Tyr671Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠

Likely pathogenic 58

  • p.Arg484Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly231Val Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe835del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1630+2T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.295-2A>G Multiple submitters gnathodiaphyseal dysplasia
  • c.40+2T>C Multiple submitters gnathodiaphyseal dysplasia
  • c.649-2A>G Multiple submitters gnathodiaphyseal dysplasia
  • p.Gln421Ter Multiple submitters ANO5-related disorder
  • p.Met833Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.1013+1G>T Single submitter
  • c.1180+1G>C Single submitter gnathodiaphyseal dysplasia
  • c.1181-16_1189delinsTTTATATATTTTATATATTTATTTACCTTA Single submitter
  • c.1181-1G>A Single submitter gnathodiaphyseal dysplasia
  • c.1181-1G>T Single submitter gnathodiaphyseal dysplasia
  • c.1332+2T>C Single submitter gnathodiaphyseal dysplasia
  • c.1333-2A>G Single submitter gnathodiaphyseal dysplasia
  • c.1333-2A>T Single submitter gnathodiaphyseal dysplasia
  • c.1631-2A>G Single submitter ANO5-related disorder
  • c.180+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.1801-1G>C Single submitter gnathodiaphyseal dysplasia
  • c.1898+1del Single submitter gnathodiaphyseal dysplasia
  • c.1899-2A>C Single submitter
  • c.2029+2dup Single submitter myopathy
  • c.2029+2T>C Single submitter
  • c.2030-2A>T Single submitter gnathodiaphyseal dysplasia
  • c.2414+1G>C Single submitter gnathodiaphyseal dysplasia
  • c.294+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.295-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.364-1G>A Single submitter gnathodiaphyseal dysplasia
  • c.878+1G>A Single submitter gnathodiaphyseal dysplasia
  • c.88-1G>A Single submitter gnathodiaphyseal dysplasia
  • p.Ala318Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg484His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg547Gly Single submitter gnathodiaphyseal dysplasia
  • p.Arg867fs Single submitter
  • p.Asn701Asp Single submitter ANO5-related disorder
  • p.Asp81Tyr Single submitter gnathodiaphyseal dysplasia
  • p.Cys342Tyr Single submitter gnathodiaphyseal dysplasia
  • p.Gln287Glu Single submitter
  • p.Glu420Ter Single submitter
  • p.Gly348Cys Single submitter gnathodiaphyseal dysplasia
  • p.Ile292Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu273Ile Single submitter gnathodiaphyseal dysplasia
  • p.Leu289fs Single submitter gnathodiaphyseal dysplasia
  • p.Lys132Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Lys232fs Single submitter
  • p.Phe593fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Phe690fs Single submitter ANO5-related disorder
  • p.Ser500Phe Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Ser796Ter Single submitter
  • p.Tyr284Ter Single submitter ANO5-related disorder
  • p.Tyr569Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr762Ter Single submitter Miyoshi muscular dystrophy 3
  • p.Tyr765fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Val473fs Single submitter Miyoshi muscular dystrophy 3
  • p.Val480Gly Single submitter ANO5-related disorder
  • c.364-2A>G No assertion criteria Elevated circulating creatine kinase activity
  • p.His253Pro No assertion criteria Elevated circulating creatine kinase activity

Conflicting classifications of pathogenicity 92

  • c.1180+6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy
  • c.1332+8A>G Single submitter gnathodiaphyseal dysplasia
  • c.138+9C>T Single submitter gnathodiaphyseal dysplasia
  • c.1801-9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.181-4G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2030-3_2030-2dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2030-3C>A Single submitter gnathodiaphyseal dysplasia
  • c.2030-3C>G Single submitter Autosomal recessive ANO5-related disorders
  • c.2236-9dup Single submitter gnathodiaphyseal dysplasia
  • c.2521-1del Single submitter gnathodiaphyseal dysplasia
  • c.295-7G>A Single submitter gnathodiaphyseal dysplasia
  • c.295-8dup Single submitter gnathodiaphyseal dysplasia
  • c.364-8T>A Single submitter gnathodiaphyseal dysplasia
  • c.87+10A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.879-7_879-6del Single submitter gnathodiaphyseal dysplasia
  • c.88-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.*166G>T Single submitter ANO5-Related Muscle Diseases
  • c.*3290G>C Single submitter ANO5-Related Muscle Diseases
  • p.Ala464Asp Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Ala499= Single submitter gnathodiaphyseal dysplasia
  • p.Ala635Val Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Ala709Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala746Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala896= Single submitter gnathodiaphyseal dysplasia
  • p.Ala98= Single submitter gnathodiaphyseal dysplasia
  • p.Arg213Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg484= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg50Gln Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Arg57Trp Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Arg58Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg642Gly Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg706Gln Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Arg706Leu Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Arg758His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Asn18Ser Single submitter ANO5-related disorder ⚠
  • p.Asn265Ser Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Asn882= Single submitter gnathodiaphyseal dysplasia
  • p.Asp230Gly Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Asp5Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp93= Single submitter gnathodiaphyseal dysplasia
  • p.Gln190= Single submitter gnathodiaphyseal dysplasia
  • p.Gln564Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Glu15Gly Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Glu609= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gly14Arg Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Gly2= Single submitter gnathodiaphyseal dysplasia
  • p.Gly227Ala Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Gly348Ser Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Gly620= Single submitter gnathodiaphyseal dysplasia
  • p.His827= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.His841Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile608Thr Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Leu175= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu240= Single submitter gnathodiaphyseal dysplasia
  • p.Leu273Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Leu307= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu408= Single submitter gnathodiaphyseal dysplasia
  • p.Leu516= Single submitter gnathodiaphyseal dysplasia
  • p.Leu6= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu661Pro Single submitter Miyoshi muscular dystrophy 3 ⚠
  • p.Leu7= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu870= Single submitter gnathodiaphyseal dysplasia
  • p.Lys132Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Lys444= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Lys92= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Met1fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Met773Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Met900Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Phe563= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Phe582= Single submitter gnathodiaphyseal dysplasia
  • p.Pro209= Single submitter gnathodiaphyseal dysplasia
  • p.Pro344Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser123= Single submitter ANO5-Related Muscle Diseases
  • p.Ser123Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser372= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ser506Gly Single submitter ANO5-Related Muscle Diseases ⚠
  • p.Ter914= Single submitter gnathodiaphyseal dysplasia
  • p.Thr368Met Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Thr454= Single submitter ANO5-Related Muscle Diseases
  • p.Thr454Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Thr513Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Thr557= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Thr713= Single submitter gnathodiaphyseal dysplasia
  • p.Thr714Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Thr752= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr219Cys Single submitter gnathodiaphyseal dysplasia ⚠
  • p.Tyr250Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Tyr574Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr819Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val478= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Val729Ile Single submitter Inborn genetic diseases ⚠
  • p.Val87Ile Single submitter gnathodiaphyseal dysplasia ⚠

Benign 70

Benign/Likely benign 27

  • c.1120-24A>T Multiple submitters Miyoshi muscular dystrophy 3
  • c.138+10G>A Multiple submitters ANO5-Related Muscle Diseases
  • c.1631-11dup Multiple submitters gnathodiaphyseal dysplasia
  • c.1898+29G>T Multiple submitters Miyoshi muscular dystrophy 3
  • c.2029+19T>G Multiple submitters gnathodiaphyseal dysplasia
  • c.2236-13_2236-10del Multiple submitters gnathodiaphyseal dysplasia
  • c.2521-7C>T Multiple submitters gnathodiaphyseal dysplasia
  • c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] Multiple submitters gnathodiaphyseal dysplasia
  • c.-217G>T Multiple submitters ANO5-Related Muscle Diseases
  • c.-261A>C Multiple submitters ANO5-Related Muscle Diseases
  • c.*112_*113del Multiple submitters
  • c.*1286G>T Multiple submitters ANO5-Related Muscle Diseases
  • c.*1313A>G Multiple submitters ANO5-Related Muscle Diseases
  • c.*1328C>T Multiple submitters ANO5-Related Muscle Diseases
  • c.*1429A>G Multiple submitters ANO5-Related Muscle Diseases
  • c.*1521T>C Multiple submitters ANO5-Related Muscle Diseases
  • c.*1661C>T Multiple submitters ANO5-Related Muscle Diseases
  • c.*3121A>G Multiple submitters gnathodiaphyseal dysplasia
  • c.*496A>G Multiple submitters ANO5-Related Muscle Diseases
  • c.*554C>T Multiple submitters ANO5-Related Muscle Diseases
  • p.Asn882Lys Multiple submitters gnathodiaphyseal dysplasia
  • p.Glu202Lys Multiple submitters gnathodiaphyseal dysplasia
  • p.Leu322Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Leu365= Multiple submitters gnathodiaphyseal dysplasia
  • p.Leu785Arg Multiple submitters gnathodiaphyseal dysplasia
  • p.Ser515= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ser796Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L

Likely benign 393

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

Uncertain significance 751

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

  • c.139-1del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.648+5G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asn52Ser Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Pro251Ser Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Trp826Cys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • c.1333-10A>C Multiple submitters
  • c.1333-9A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.138+6C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.1630+5del Multiple submitters gnathodiaphyseal dysplasia
  • c.1800+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2235+4A>C Multiple submitters gnathodiaphyseal dysplasia
  • c.2414+3G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2520+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2520+6C>T Multiple submitters gnathodiaphyseal dysplasia
  • c.-162A>G Multiple submitters ANO5-Related Muscle Diseases
  • c.-1G>A Multiple submitters
  • c.*114C>T Multiple submitters ANO5-Related Muscle Diseases
  • c.*115T>C Multiple submitters ANO5-Related Muscle Diseases
  • c.*622G>A Multiple submitters ANO5-Related Muscle Diseases
  • p.Ala249Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala278Val Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ala317Glu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ala479_Val480insGly Multiple submitters gnathodiaphyseal dysplasia
  • p.Ala499Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala630Gly Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ala630Thr Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ala644Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala644Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala724Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala724Thr Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ala830Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ala94Thr Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ala98Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg100Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg160Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg160His Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Arg195Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg195Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg279Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg404Gln Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Arg407Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Arg455Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg455His Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Arg57Gln Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Arg641Cys Multiple submitters gnathodiaphyseal dysplasia
  • p.Arg641His Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Arg645Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Arg645Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Arg74Gln Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Arg799Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg867Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asn268Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn276Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn440Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Asn701Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Asn904Ile Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Asp361His Multiple submitters gnathodiaphyseal dysplasia
  • p.Asp658Asn Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Asp75His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Asp860His Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Asp88Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Asp89Tyr Multiple submitters
  • p.Asp93Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys224Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Cys369Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Cys601Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln256Glu Multiple submitters ⚠
  • p.Gln30Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Gln405Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln422Pro Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Gln62Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Gln715Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Gln731His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu103Gly Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Glu185Gln Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Glu197Lys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Glu29= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu381Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu419Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Glu44Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu551Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu816Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Glu863Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Glu880Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Glu99Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Gly148Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Gly463Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Gly463Glu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Gly518Ala Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Gly587Glu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.His194Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ile153Val Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ile216Thr Multiple submitters ⚠
  • p.Ile300Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile302Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile341Thr Multiple submitters gnathodiaphyseal dysplasia
  • p.Ile346Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ile346Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile456Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile512Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile536Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ile627Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile699Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile727Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ile837Val Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ile854Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Ile875Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Leu200Phe Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Leu252Phe Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Leu355Phe Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Leu521Phe Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Leu562Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Leu845Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Lys232= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Lys579Ile Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Lys905Asn Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Met332Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Met332Val Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Met46Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Met470Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Met477Thr Multiple submitters Inborn genetic diseases
  • p.Met495Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met543Ile Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Met560Val Multiple submitters Inborn genetic diseases
  • p.Met839Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Met871Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Phe187Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Phe208del Multiple submitters gnathodiaphyseal dysplasia
  • p.Phe389Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Phe680Ser Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Phe680Tyr Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Phe73Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe820Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Phe835Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Phe835Val Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Phe879Ser Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro152Ala Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro161Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Pro182Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro225Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro263Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Pro264Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro266Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro47Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Pro4Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro4Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Pro694Ser Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Pro812Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Pro855Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ser178Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser178Thr Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ser211Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser222Pro Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ser247Pro Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ser281Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser537Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser571Phe Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ser653Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser653Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Ser741Tyr Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Ter914IleextTer? Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Ter914Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Thr111Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Thr142Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Thr272Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Thr490Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Thr619Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Thr719Ser Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Trp363Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Trp401Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Trp401Cys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Trp458Arg Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Trp639Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Trp639del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Tyr129Cys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Tyr129His Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Tyr218Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Tyr246His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Tyr282Cys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Tyr459Cys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Tyr459Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr552His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr585Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Tyr735Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Tyr762Cys Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Tyr806Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Tyr806Cys Multiple submitters Acute rhabdomyolysis ⚠
  • p.Val131Gly Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Val139Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val139Leu Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Val146Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val217Ala Multiple submitters gnathodiaphyseal dysplasia ⚠
  • p.Val415Met Multiple submitters gnathodiaphyseal dysplasia
  • p.Val473Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val474Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val474Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val575Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val583Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val739Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L
  • p.Val783Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2L ⚠
  • p.Val783Ile Multiple submitters gnathodiaphyseal dysplasia ⚠
  • c.1014-3C>T Single submitter gnathodiaphyseal dysplasia
  • c.1014-6T>C Single submitter
  • c.1119+4T>C Single submitter gnathodiaphyseal dysplasia
  • c.1120-10A>G Single submitter
  • c.1120-8T>G Single submitter gnathodiaphyseal dysplasia
  • c.1120-9T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.1180+3G>A Single submitter gnathodiaphyseal dysplasia
  • c.1180+3G>T Single submitter gnathodiaphyseal dysplasia
  • c.1180+5G>C Single submitter gnathodiaphyseal dysplasia
  • c.1332+5A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.1332+6C>T Single submitter gnathodiaphyseal dysplasia
  • c.1333-20T>C Single submitter gnathodiaphyseal dysplasia
  • c.1333-4del Single submitter
  • c.1333-5T>A Single submitter gnathodiaphyseal dysplasia
  • c.1333-6T>C Single submitter gnathodiaphyseal dysplasia
  • c.138+7A>G Single submitter ANO5-Related Muscle Diseases
  • c.139-3410_294+336del Single submitter limb-girdle muscular dystrophy
  • c.1407+6C>A Single submitter gnathodiaphyseal dysplasia
  • c.1408-8T>C Single submitter
  • c.1631-3C>G Single submitter
  • c.1631-4_1631-2del Single submitter
  • c.1631-7_1631-3del Single submitter
  • c.180+6A>G Single submitter gnathodiaphyseal dysplasia
  • c.180+7C>T Single submitter
  • c.181-12T>C Single submitter gnathodiaphyseal dysplasia
  • c.181-3C>T Single submitter gnathodiaphyseal dysplasia
  • c.1899-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2235+5_2235+10del Single submitter
  • c.2235+5G>A Single submitter
  • c.2235+6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.2236-5T>G Single submitter ANO5-Related Muscle Diseases
  • c.2236-6C>A Single submitter
  • c.2236-8T>G Single submitter gnathodiaphyseal dysplasia
  • c.2521-16T>G Single submitter gnathodiaphyseal dysplasia
  • c.2521-613C>T Single submitter
  • c.294+2dup Single submitter gnathodiaphyseal dysplasia
  • c.363+4A>G Single submitter
  • c.364-3C>A Single submitter gnathodiaphyseal dysplasia
  • c.40+18_40+19delinsTC Single submitter gnathodiaphyseal dysplasia
  • c.648+4G>A Single submitter gnathodiaphyseal dysplasia
  • c.648+4G>C Single submitter gnathodiaphyseal dysplasia
  • c.648+5G>A Single submitter gnathodiaphyseal dysplasia
  • c.649-11T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.762+3_762+4del Single submitter gnathodiaphyseal dysplasia
  • c.762+4T>C Single submitter gnathodiaphyseal dysplasia
  • c.762+6T>G Single submitter gnathodiaphyseal dysplasia
  • c.763-3C>T Single submitter gnathodiaphyseal dysplasia
  • c.763-7T>G Single submitter gnathodiaphyseal dysplasia
  • c.87+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2L
  • c.87+5G>T Single submitter gnathodiaphyseal dysplasia
  • c.879-9_879-6del Single submitter gnathodiaphyseal dysplasia
  • c.88-8A>T Single submitter gnathodiaphyseal dysplasia
  • c.-194G>T Single submitter ANO5-Related Muscle Diseases
  • c.-201C>A Single submitter ANO5-Related Muscle Diseases
  • c.-210G>C Single submitter ANO5-Related Muscle Diseases
  • c.-251T>G Single submitter ANO5-Related Muscle Diseases
  • c.-65G>C Single submitter ANO5-Related Muscle Diseases
  • c.-907C>G Single submitter
  • c.*1024A>G Single submitter ANO5-Related Muscle Diseases
  • c.*106T>C Single submitter ANO5-Related Muscle Diseases
  • c.*1095G>A Single submitter ANO5-Related Muscle Diseases
  • c.*1119C>T Single submitter ANO5-Related Muscle Diseases
  • c.*1248A>G Single submitter ANO5-Related Muscle Diseases
  • c.*135G>A Single submitter ANO5-Related Muscle Diseases
  • c.*1514G>T Single submitter ANO5-Related Muscle Diseases
  • c.*1630C>A Single submitter ANO5-Related Muscle Diseases
  • c.*1641C>A Single submitter ANO5-Related Muscle Diseases
  • c.*1647T>C Single submitter ANO5-Related Muscle Diseases
  • c.*1674T>A Single submitter ANO5-Related Muscle Diseases
  • c.*1757A>C Single submitter ANO5-Related Muscle Diseases
  • c.*185A>G Single submitter ANO5-Related Muscle Diseases
  • c.*1941C>T Single submitter ANO5-Related Muscle Diseases
  • c.*1967G>A Single submitter ANO5-Related Muscle Diseases
  • c.*2207A>T Single submitter ANO5-Related Muscle Diseases
  • c.*220G>A Single submitter ANO5-Related Muscle Diseases
  • c.*2252T>C Single submitter ANO5-Related Muscle Diseases
  • c.*2293G>C Single submitter ANO5-Related Muscle Diseases
  • c.*2296T>C Single submitter ANO5-Related Muscle Diseases
  • c.*2300C>G Single submitter ANO5-Related Muscle Diseases
  • c.*2395T>C Single submitter ANO5-Related Muscle Diseases
  • c.*2568T>A Single submitter ANO5-Related Muscle Diseases
  • c.*2704A>C Single submitter ANO5-Related Muscle Diseases
  • c.*2752G>A Single submitter ANO5-Related Muscle Diseases
  • c.*2784G>A Single submitter ANO5-Related Muscle Diseases
  • c.*2925A>C Single submitter ANO5-Related Muscle Diseases
  • c.*2947A>T Single submitter ANO5-Related Muscle Diseases
  • c.*2970G>A Single submitter ANO5-Related Muscle Diseases
  • c.*2980T>C Single submitter ANO5-Related Muscle Diseases
  • c.*305A>T Single submitter ANO5-Related Muscle Diseases
  • c.*3077G>C Single submitter ANO5-Related Muscle Diseases
  • c.*3196A>G Single submitter ANO5-Related Muscle Diseases
  • c.*3206A>G Single submitter ANO5-Related Muscle Diseases
  • c.*3242G>A Single submitter ANO5-Related Muscle Diseases
  • c.*3259G>A Single submitter ANO5-Related Muscle Diseases
  • c.*3273G>C Single submitter ANO5-Related Muscle Diseases
  • c.*3373C>A Single submitter ANO5-Related Muscle Diseases
  • c.*3387G>A Single submitter ANO5-Related Muscle Diseases
  • c.*3407G>T Single submitter ANO5-Related Muscle Diseases
  • c.*3473T>G Single submitter ANO5-Related Muscle Diseases