ClinVar Miner

Variants with conflicting interpretations studied for Limb-girdle muscular dystrophy, type 2A

Coded as:
Minimum review status of the submission for Limb-girdle muscular dystrophy, type 2A: Y axis collection method of the submission for Limb-girdle muscular dystrophy, type 2A:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
116 95 4 68 26 0 21 113

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Limb-girdle muscular dystrophy, type 2A pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 25 2 1 1
likely pathogenic 49 0 6 0 0
uncertain significance 4 14 0 10 4
likely benign 1 0 17 0 8
benign 1 0 2 17 0

Condition to condition summary #

Total conditions: 15
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 65 4 43 18 0 18 81
Limb-girdle muscular dystrophy, type 2A 243 40 4 31 5 0 4 41
not specified 0 12 0 19 10 0 1 28
Limb-Girdle Muscular Dystrophy, Recessive 0 28 1 7 4 0 0 11
Limb-girdle muscular dystrophy, type 2A; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 0 2 0 5 0 0 0 5
Elevated serum creatine phosphokinase; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3 0 0 1 1 0 0 1 2
Congenital muscular dystrophy 0 0 1 1 0 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 0 0 1 1 0 0 0 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 0 0 0 1 0 0 0 1
Muscular Diseases; Muscle weakness; Absent Achilles reflex 0 0 1 1 0 0 0 1
Muscular dystrophy 0 0 1 1 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Shoulder girdle muscle weakness 0 0 1 1 0 0 0 1
Muscular dystrophy; Muscle weakness; Arrhythmia; Elbow flexion contracture; Contractures of the joints of the lower limbs 0 1 1 1 0 0 0 1
Myositis, eosinophilic 0 0 1 0 0 0 0 1
Shoulder girdle muscle weakness; Calf muscle hypertrophy 0 0 1 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 113
Download table as spreadsheet
HGVS dbSNP
NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.2(CAPN3):c.1017G>A (p.Thr339=) rs141934227
NM_000070.2(CAPN3):c.1020G>T (p.Gly340=) rs372401631
NM_000070.2(CAPN3):c.1029+3A>G rs28364442
NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.2(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.2(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.2(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.2(CAPN3):c.1194-9A>G rs374665929
NM_000070.2(CAPN3):c.1227A>C (p.Thr409=) rs111806046
NM_000070.2(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.2(CAPN3):c.1263G>A (p.Leu421=) rs372450879
NM_000070.2(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.2(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.2(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.2(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.2(CAPN3):c.1350C>T (p.Phe450=) rs144944366
NM_000070.2(CAPN3):c.1355-6G>A rs28364485
NM_000070.2(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.2(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.2(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.2(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.2(CAPN3):c.1584C>T (p.Asn528=) rs530529988
NM_000070.2(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.2(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.2(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.2(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.2(CAPN3):c.1743_1744delTG (p.Glu582Glyfs) rs886042573
NM_000070.2(CAPN3):c.1746-20C>G rs201892814
NM_000070.2(CAPN3):c.1746-7C>G rs199978708
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000070.2(CAPN3):c.1801-1G>A rs886043752
NM_000070.2(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.2(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.2(CAPN3):c.183C>T (p.Phe61=) rs146069933
NM_000070.2(CAPN3):c.1993-1G>A rs369552114
NM_000070.2(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651
NM_000070.2(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.2(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.2(CAPN3):c.2109C>T (p.Leu703=) rs371577901
NM_000070.2(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.2(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.2(CAPN3):c.2185-2A>G rs886041335
NM_000070.2(CAPN3):c.2207_2208delCA (p.Thr736Argfs) rs587780289
NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.2(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.2(CAPN3):c.2258_2260delACG (p.Asp753del) rs886043333
NM_000070.2(CAPN3):c.2263+1G>A rs886044475
NM_000070.2(CAPN3):c.2264-11C>T rs28364537
NM_000070.2(CAPN3):c.2279dupA (p.Asn760Lysfs) rs775130589
NM_000070.2(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544
NM_000070.2(CAPN3):c.2290delG (p.Asp764Thrfs) rs886044527
NM_000070.2(CAPN3):c.2292C>T (p.Asp764=) rs187279903
NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.2(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.2(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) rs1555423217
NM_000070.2(CAPN3):c.2380+12delA rs28364538
NM_000070.2(CAPN3):c.2381-12A>G rs73402734
NM_000070.2(CAPN3):c.2381-2A>G rs863224962
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.2(CAPN3):c.2440-1G>A rs886044052
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.270C>T (p.Ser90=) rs753686702
NM_000070.2(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.2(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) rs797045427
NM_000070.2(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.2(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.2(CAPN3):c.402delC (p.Ile135Leufs) rs746935735
NM_000070.2(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.2(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.2(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.2(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.2(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.2(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000070.2(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.2(CAPN3):c.580delT (p.Ser194Profs) rs398123149
NM_000070.2(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.2(CAPN3):c.717delT (p.Phe239Leufs) rs776059672
NM_000070.2(CAPN3):c.741_751del11 (p.Met248Hisfs) rs1555420647
NM_000070.2(CAPN3):c.78G>A (p.Pro26=) rs62642519
NM_000070.2(CAPN3):c.802-9G>A rs761211705
NM_000070.2(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.2(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.2(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.2(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.2(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.2(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000070.2(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.549delA (p.Thr184Argfs) rs80338800

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.