single nucleotide variant | NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) | HCFC1 | Pathogenic | X | 153229734 | 153229734 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA144900,OMIM:300019.0003 |
Indel | NM_005334.3(HCFC1):c.1781_1803+3delinsCA | HCFC1 | Likely pathogenic | X | 153224017 | 153224042 | CACCATGACTGGCGAGGAGGCCACCT | TG | criteria provided, single submitter | ClinGen:CA16621242 |
single nucleotide variant | NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) | HCFC1 | Pathogenic | X | 153217504 | 153217504 | G | C | criteria provided, single submitter | ClinGen:CA353443 |
single nucleotide variant | NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser) | HCFC1 | Likely pathogenic | X | 153216827 | 153216827 | G | A | criteria provided, single submitter | ClinGen:CA415104008 |
single nucleotide variant | NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) | HCFC1 | Pathogenic | X | 153215838 | 153215838 | C | T | criteria provided, single submitter | ClinGen:CA204692 |
Insertion | NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) | MMADHC | Pathogenic | 2 | 150438734 | 150438735 | A | AAT | criteria provided, single submitter | ClinGen:CA347852 |
single nucleotide variant | NM_015702.3(MMADHC):c.154+1G>A | MMADHC | Pathogenic/Likely pathogenic | 2 | 150438640 | 150438640 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) | MMADHC | Pathogenic | 2 | 150436021 | 150436022 | CAA | C | criteria provided, single submitter | - |
Duplication | NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) | MMADHC | Pathogenic | 2 | 150433009 | 150433010 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA251601,OMIM:611935.0008 |
Duplication | NM_015702.3(MMADHC):c.455dup (p.Cys153fs) | MMADHC | Pathogenic | 2 | 150432973 | 150432974 | T | TG | criteria provided, single submitter | ClinGen:CA347878 |