Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_182961.4(SYNE1):c.10608+1G>C | SYNE1 | Likely pathogenic | 6 | 152679507 | 152679507 | C | G | criteria provided, single submitter | - |
Deletion | NM_182961.4(SYNE1):c.4975_4976+8del | SYNE1 | Pathogenic | 6 | 152749332 | 152749341 | GCTGCTCACCT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_182961.4(SYNE1):c.16390-2A>G | SYNE1 | Pathogenic/Likely pathogenic | 6 | 152639400 | 152639400 | T | C | criteria provided, multiple submitters, no conflicts | OMIM:608441.0001 |
single nucleotide variant | NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln) | SYNE2 | Likely pathogenic | 14 | 64470048 | 64470048 | G | A | criteria provided, single submitter | ClinGen:CA16621659 |
single nucleotide variant | NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) | TMEM43 | Pathogenic | 3 | 14183165 | 14183165 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438 |