Deletion | NM_000157.4(GBA1):c.222_224del (p.Thr75del) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155209760 | 155209762 | GGTA | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000157.4(GBA1):c.762-1G>C | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207370 | 155207370 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000157.4(GBA1):c.497A>T (p.Asp166Val) | GBA1 | Likely pathogenic | 1 | 155208399 | 155208399 | T | A | criteria provided, single submitter | - |
Deletion | NM_000157.4(GBA1):c.595_596del (p.Leu199fs) | GBA1 | Pathogenic | 1 | 155208090 | 155208091 | CAG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) | GBA1 | Pathogenic | 1 | 155208033 | 155208033 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000157.4(GBA1):c.709A>G (p.Lys237Glu) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207977 | 155207977 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter) | GBA1 | Likely pathogenic | 1 | 155205610 | 155205610 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter) | GBA1 | Pathogenic | 1 | 155205503 | 155205503 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro) | GBA1 | Likely pathogenic | 1 | 155205589 | 155205589 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207203 | 155207203 | T | C | criteria provided, multiple submitters, no conflicts | - |