Arthrogryposis multiplex congenita
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neuromuscular disorders category
Likely pathogenic
4
Pathogenic
4
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_139284.3(LGI4):c.2T>C (p.Met1Thr) | Single nucleotide variant | Chr19:35134679 | Pathogenic | Missense variant|initiator_codon_variant | rs1207534366 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_002478.5(MYOD1):c.557dup (p.Arg188fs) | Duplication | Chr11:17720334 - 17720335 | Pathogenic | Frameshift variant | rs1179926739 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter) | Single nucleotide variant | Chr2:151627179 | Likely pathogenic | Nonsense | rs1560619891 |
.Lifecell International Pvt. Ltd |
| NM_001164508.2(NEB):c.9102+1G>C | Single nucleotide variant | Chr2:151636226 | Likely pathogenic | Intron variant|splice donor variant | rs143644938 |
.Lifecell International Pvt. Ltd |
| NM_001164508.2(NEB):c.16809C>A (p.Asp5603Glu) | Single nucleotide variant | Chr2:151576250 | Uncertain significance | Missense variant | rs1359484405 |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
| NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) | Single nucleotide variant | Chr2:151617381 | Pathogenic/Likely pathogenic | Nonsense | rs928945364 |
.Lifecell International Pvt. Ltd |
| NM_001164508.2(NEB):c.3255+1G>A | Single nucleotide variant | Chr2:151679720 | Pathogenic | Splice donor variant | rs375628303 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_017988.6(SCYL2):c.1748TTAATC[1] (p.583LN[1]) | Microsatellite | Chr12:100329302 - 100329307 | Uncertain significance |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
||
| NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del) | Deletion | Chr12:100291539 - 100291559 | Pathogenic | Inframe_deletion|5 prime UTR variant | rs2500017861 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_020654.5(SENP7):c.3088C>T (p.Arg1030Trp) | Single nucleotide variant | Chr3:101326008 | Likely pathogenic | Missense variant |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
|
| NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter) | Single nucleotide variant | Chr9:129814127 | Likely pathogenic | Nonsense | rs753220814 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi .Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution