single nucleotide variant | NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) | ACTC1 | Likely pathogenic | 15 | 35083353 | 35083353 | C | T | criteria provided, single submitter | ClinGen:CA020006 |
Deletion | NM_005159.5(ACTC1):c.275_277del (p.Phe92del) | ACTC1 | Likely pathogenic | 15 | 35085623 | 35085625 | TAGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA019727 |
single nucleotide variant | NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln) | ACTC1 | Likely pathogenic | 15 | 35084384 | 35084384 | C | G | criteria provided, single submitter | ClinGen:CA391630175 |
single nucleotide variant | NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) | ACTC1 | Pathogenic/Likely pathogenic | 15 | 35084359 | 35084359 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) | ACTN2 | Pathogenic | 1 | 236882307 | 236882307 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199276,UniProtKB:P35609#VAR_071970,OMIM:102573.0005 |
single nucleotide variant | NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) | ACTN2 | Likely pathogenic | 1 | 236894600 | 236894600 | T | C | criteria provided, single submitter | ClinGen:CA274533,UniProtKB:P35609#VAR_074292,OMIM:102573.0007 |
single nucleotide variant | NM_001103.4(ACTN2):c.2527-1G>A | ACTN2 | Pathogenic | 1 | 236925760 | 236925760 | G | A | criteria provided, single submitter | ClinGen:CA335020 |
single nucleotide variant | NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) | ACTN2 | Pathogenic | 1 | 236925812 | 236925812 | C | T | criteria provided, single submitter | ClinGen:CA335049 |
single nucleotide variant | NM_001103.4(ACTN2):c.352G>T (p.Gly118Cys) | ACTN2 | Likely pathogenic | 1 | 236882304 | 236882304 | G | T | criteria provided, single submitter | ClinGen:CA345373687 |
Deletion | NM_001103.4(ACTN2):c.1793del (p.Pro598fs) | ACTN2 | Likely pathogenic | 1 | 236914904 | 236914904 | AC | A | criteria provided, single submitter | ClinGen:CA658795623 |