Limb-girdle muscular dystrophy
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Benign/Likely benign
1
Conflicting classifications of pathogenicity
6
Likely pathogenic
10
Pathogenic
20
Pathogenic/Likely pathogenic
7
Uncertain significance
6
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_003494.4(DYSF):c.[1670T>C];[4701C>G] | CompoundHeterozygote | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) | Single nucleotide variant | Chr11:22255403 | Pathogenic/Likely pathogenic | Nonsense | rs368970223 |
.Lifecell International Pvt. Ltd |
| NM_000070.3(CAPN3):c.2439+1G>T | Single nucleotide variant | Chr15:42411346 | Likely pathogenic | Splice donor variant | rs867531606 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys) | Single nucleotide variant | Chr15:42410929 | Likely pathogenic | Missense variant | rs2141225644 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2217C>G (p.Ser739=) | Single nucleotide variant | Chr15:42410620 | Pathogenic | Synonymous variant | rs148851444 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) | Single nucleotide variant | Chr15:42386184 | Conflicting classifications of pathogenicity | Missense variant | rs946415346 | |
| NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del) | Deletion | Chr15:42410446 - 42411992 | Likely pathogenic | Stop lost|splice acceptor variant|splice donor variant|inframe_deletion |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
|
| NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) | Single nucleotide variant | Chr15:42402878 | Pathogenic/Likely pathogenic | Missense variant | rs142004418 |
.Lifecell International Pvt. Ltd |
| NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) | Single nucleotide variant | Chr15:42390016 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs528417986 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) | Single nucleotide variant | Chr15:42410925 | Pathogenic/Likely pathogenic | Missense variant | rs868791726 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2051-1G>T | Single nucleotide variant | Chr15:42409930 | Pathogenic | Splice acceptor variant | rs886042108 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) | Single nucleotide variant | Chr15:42399640 | Pathogenic | Missense variant | rs776043976 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.802-9G>A | Single nucleotide variant | Chr15:42389944 | Pathogenic | Intron variant | rs761211705 |
.Lifecell International Pvt. Ltd |
| NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) | Single nucleotide variant | Chr15:42399641 | Pathogenic | Missense variant | rs863224956 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) | Single nucleotide variant | Chr15:42410958 | Pathogenic | Missense variant | rs778768583 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) | Single nucleotide variant | Chr7:16376142 | Uncertain significance | Missense variant|non-coding transcript variant|intron variant | rs2128312068 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp) | Single nucleotide variant | Chr7:157367373 | Likely pathogenic | Missense variant | rs575938861 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro) | Single nucleotide variant | Chr2:71665182 | Likely pathogenic | Missense variant | rs779987458 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs) | Duplication | Chr2:71589622 - 71589623 | Likely pathogenic | Frameshift variant | rs2545988788 |
.Lifecell International Pvt. Ltd |
| NM_001130987.2(DYSF):c.147+1G>A | Single nucleotide variant | Chr2:71480939 | Pathogenic | Splice donor variant | rs2082833010 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) | Deletion | Chr2:71667463 | Pathogenic | Frameshift variant | rs2095035479 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) | Single nucleotide variant | Chr2:71551635 | Pathogenic | Missense variant | rs200916654 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) | Single nucleotide variant | Chr2:71656236 | Likely pathogenic | Nonsense | rs770905160 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001130987.2(DYSF):c.730del (p.Leu244fs) | Deletion | Chr2:71513892 | Pathogenic | Frameshift variant | rs1553521119 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) | Single nucleotide variant | Chr2:71669207 | Pathogenic | Missense variant | rs1131692158 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001130987.2(DYSF):c.2217-1G>T | Single nucleotide variant | Chr2:71561751 | Pathogenic | Splice acceptor variant | rs886044379 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001130987.2(DYSF):c.888+1G>A | Single nucleotide variant | Chr2:71515752 | Likely pathogenic | Splice donor variant | rs886044377 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) | Single nucleotide variant | Chr2:71481940 | Pathogenic | Missense variant | rs886042878 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) | Single nucleotide variant | Chr2:71481890 | Pathogenic | Nonsense | rs886042641 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) | Single nucleotide variant | Chr2:71569898 | Conflicting classifications of pathogenicity | Synonymous variant | rs886042637 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) | Duplication | Chr2:71612666 - 71612667 | Pathogenic | Frameshift variant | rs398123786 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) | Single nucleotide variant | Chr2:71570704 | Pathogenic | Missense variant | rs121908958 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001079802.2(FKTN):c.165+5G>A | Single nucleotide variant | Chr9:105596662 | Conflicting classifications of pathogenicity | Intron variant | rs2132596368 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_021971.4(GMPPB):c.358A>G (p.Met120Val) | Single nucleotide variant | Chr3:49723016 | Pathogenic | Missense variant | rs1559697515 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) | Single nucleotide variant | Chr3:49721835 | Pathogenic/Likely pathogenic | Missense variant | rs397509422 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) | Single nucleotide variant | Chr2:178614561 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs72677243 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000232.5(SGCB):c.3G>T (p.Met1Ile) | Single nucleotide variant | Chr4:52038257 | Pathogenic | Missense variant|initiator_codon_variant | rs2109380946 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_201384.3(PLEC):c.5933A>C (p.Glu1978Ala) | Single nucleotide variant | Chr8:143923996 | Uncertain significance | Missense variant | rs782017511 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) | Microsatellite | Chr8:143930152 - 143930160 | Conflicting classifications of pathogenicity | Inframe_deletion | rs786205252 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) | Single nucleotide variant | Chr14:77304727 | Uncertain significance | Missense variant | rs750346960 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) | Single nucleotide variant | Chr14:77285601 | Uncertain significance | Missense variant | rs757110456 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) | Single nucleotide variant | Chr14:77299494 | Uncertain significance | Missense variant | rs794727871 |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
| NM_000232.5(SGCB):c.621+3A>G | Single nucleotide variant | Chr4:52028727 | Uncertain significance | Intron variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) | Single nucleotide variant | Chr4:52029836 | Pathogenic | Missense variant | rs555514820 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000231.3(SGCG):c.195+4_195+7del | Microsatellite | Chr13:23203889 - 23203892 | Pathogenic | Splice donor variant | rs797045106 | |
| NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) | Single nucleotide variant | Chr1:46193315 | Conflicting classifications of pathogenicity | Missense variant | rs762972459 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) | Duplication | Chr2:178589595 - 178589596 | Likely pathogenic | Frameshift variant | rs886039913 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) | Single nucleotide variant | Chr2:178590170 | Pathogenic/Likely pathogenic | Nonsense | rs794729278 |
.Lifecell International Pvt. Ltd |
| NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) | Single nucleotide variant | Chr2:178532039 | Benign/Likely benign | Missense variant | rs68080670 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) | Single nucleotide variant | Chr12:49185162 | Pathogenic/Likely pathogenic | Missense variant | rs587784483 |
.Lifecell International Pvt. Ltd .Suma Genomics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution