single nucleotide variant | NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) | CDH2 | Likely pathogenic | 18 | 25565098 | 25565098 | T | C | criteria provided, single submitter | ClinGen:CA402106923 |
single nucleotide variant | NM_001927.4(DES):c.1009G>C (p.Ala337Pro) | DES | Pathogenic | 2 | 220285661 | 220285661 | G | C | criteria provided, single submitter | ClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001 |
single nucleotide variant | NM_001927.4(DES):c.1034T>C (p.Leu345Pro) | DES | Pathogenic/Likely pathogenic | 2 | 220286072 | 220286072 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006 |
single nucleotide variant | NM_001927.4(DES):c.1216C>T (p.Arg406Trp) | DES | Pathogenic/Likely pathogenic | 2 | 220286254 | 220286254 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA257646,UniProtKB:P17661#VAR_042458,OMIM:125660.0007 |
single nucleotide variant | NM_001927.4(DES):c.1325C>T (p.Thr442Ile) | DES | Pathogenic | 2 | 220290421 | 220290421 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015 |
single nucleotide variant | NM_001927.4(DES):c.1049G>C (p.Arg350Pro) | DES | Pathogenic | 2 | 220286087 | 220286087 | G | C | criteria provided, multiple submitters, no conflicts | OMIM:125660.0016,ClinGen:CA126906,UniProtKB:P17661#VAR_042454 |
single nucleotide variant | NM_001927.4(DES):c.1255C>T (p.Pro419Ser) | DES | Pathogenic/Likely pathogenic | 2 | 220288509 | 220288509 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017 |
single nucleotide variant | NM_001927.4(DES):c.38C>T (p.Ser13Phe) | DES | Pathogenic | 2 | 220283222 | 220283222 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA261520,UniProtKB:P17661#VAR_067208,OMIM:125660.0019 |
single nucleotide variant | NM_001927.4(DES):c.735+1G>A | DES | Pathogenic/Likely pathogenic | 2 | 220285069 | 220285069 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA261522 |
single nucleotide variant | NM_001927.4(DES):c.1289-2A>G | DES | Pathogenic/Likely pathogenic | 2 | 220290383 | 220290383 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA144512,OMIM:125660.0018 |