single nucleotide variant | NM_000478.6(ALPL):c.407G>A (p.Arg136His) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889712 | 21889712 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256932,UniProtKB:P05186#VAR_006152,OMIM:171760.0013 |
Indel | NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889705 | 21889706 | AC | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA274069 |
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 | NM_000478.6(ALPL):c.392del (p.Ser131fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889697 | 21889697 | AG | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000478.6(ALPL):c.360_361del (p.Val121fs) | ALPL | Pathogenic | 1 | 21889663 | 21889664 | TGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA666466 |
single nucleotide variant | NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889651 | 21889651 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA123348,UniProtKB:P05186#VAR_013977,OMIM:171760.0015 |
single nucleotide variant | NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889645 | 21889645 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA338877136 |
Deletion | NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) | ALPL | Likely pathogenic | 1 | 21889608 | 21889608 | AC | A | criteria provided, single submitter | ClinGen:CA658653731 |
single nucleotide variant | NM_000478.6(ALPL):c.297+2T>A | ALPL | Likely pathogenic | 1 | 21887707 | 21887707 | T | A | criteria provided, single submitter | ClinGen:CA16040715 |
Duplication | NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21887631 | 21887632 | G | GGTCA | criteria provided, multiple submitters, no conflicts | - |