Deletion | NM_000478.6(ALPL):c.205_212del (p.Ala69fs) | ALPL | Likely pathogenic | 1 | 21887611 | 21887618 | ACGGCTGCC | A | criteria provided, single submitter | ClinGen:CA658795411 |
single nucleotide variant | NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) | ALPL | Likely pathogenic | 1 | 21887144 | 21887144 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.862+1G>A | ALPL | Likely pathogenic | 1 | 21896868 | 21896868 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) | ALPL | Likely pathogenic | 1 | 21902267 | 21902267 | C | T | criteria provided, single submitter | - |
Deletion | NM_000478.6(ALPL):c.427del (p.Gln143fs) | ALPL | Likely pathogenic | 1 | 21889730 | 21889730 | AC | A | criteria provided, single submitter | - |
Deletion | NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs) | ALPL | Likely pathogenic | 1 | 21903038 | 21903041 | CACAG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter) | ALPL | Likely pathogenic | 1 | 21903890 | 21903890 | C | T | criteria provided, single submitter | - |
Deletion | NM_000478.6(ALPL):c.963del (p.Lys322fs) | ALPL | Likely pathogenic | 1 | 21900257 | 21900257 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.395C>T (p.Ala132Val) | ALPL | Likely pathogenic | 1 | 21889700 | 21889700 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000001.11:g.(?_21575723)_(21575934_?)del | ALPL | Likely pathogenic | 1 | 21902216 | 21902427 | na | na | criteria provided, single submitter | - |