Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) | ACADM | Pathogenic | 1 | 76227049 | 76227050 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA913286 |
single nucleotide variant | NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) | ACADM | Pathogenic/Likely pathogenic | 1 | 76227050 | 76227050 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA913287 |
single nucleotide variant | NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser) | ACADM | Pathogenic | 1 | 76227051 | 76227051 | A | C | criteria provided, single submitter | ClinGen:CA340818359 |
single nucleotide variant | NM_000016.6(ACADM):c.1194+1G>A | ACADM | Pathogenic | 1 | 76227056 | 76227056 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.1195-2A>T | ACADM | Likely pathogenic | 1 | 76228375 | 76228375 | A | T | criteria provided, single submitter | ClinGen:CA16040787 |
single nucleotide variant | NM_000016.6(ACADM):c.1195-1G>C | ACADM | Likely pathogenic | 1 | 76228376 | 76228376 | G | C | criteria provided, single submitter | - |
Deletion | NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76228402 | 76228403 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576246 |