single nucleotide variant | NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) | DOK7 | Likely pathogenic | 4 | 3487272 | 3487272 | G | C | criteria provided, single submitter | ClinGen:CA251738,UniProtKB:Q18PE1#VAR_027544,OMIM:610285.0006 |
Deletion | NM_033087.4(ALG2):c.1040del (p.Gly347fs) | ALG2 | Likely pathogenic | 9 | 101980427 | 101980427 | AC | A | criteria provided, single submitter | ClinGen:CA252406,OMIM:607905.0001 |
single nucleotide variant | NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) | LRP4 | Likely pathogenic | 11 | 46921435 | 46921435 | C | T | criteria provided, single submitter | ClinGen:CA117685,UniProtKB:O75096#VAR_063776,OMIM:604270.0002 |
single nucleotide variant | NM_002334.4(LRP4):c.547+1G>A | LRP4 | Likely pathogenic | 11 | 46920937 | 46920937 | C | T | criteria provided, single submitter | OMIM:604270.0003 |
single nucleotide variant | NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) | CHAT | Likely pathogenic | 10 | 50857615 | 50857615 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA257984,UniProtKB:P28329#VAR_011671,OMIM:118490.0005 |
single nucleotide variant | NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) | CHAT | Likely pathogenic | 10 | 50854697 | 50854697 | C | T | criteria provided, single submitter | ClinGen:CA257999,UniProtKB:P28329#VAR_011669,OMIM:118490.0010 |
single nucleotide variant | NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) | CHAT | Likely pathogenic | 10 | 50835727 | 50835727 | T | C | criteria provided, single submitter | ClinGen:CA258002,UniProtKB:P28329#VAR_038605,OMIM:118490.0011 |
single nucleotide variant | NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) | CHRNE | Likely pathogenic | 17 | 4802804 | 4802804 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA258176,UniProtKB:Q04844#VAR_000294,OMIM:100725.0016 |
single nucleotide variant | NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) | CHRND | Likely pathogenic | 2 | 233396107 | 233396107 | C | T | criteria provided, single submitter | ClinGen:CA128062,UniProtKB:Q07001#VAR_019566,OMIM:100720.0001 |
single nucleotide variant | NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) | DPAGT1 | Likely pathogenic | 11 | 118971487 | 118971487 | C | T | criteria provided, single submitter | ClinGen:CA129971,UniProtKB:Q9H3H5#VAR_068811,OMIM:191350.0002 |