single nucleotide variant | NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) | IL1RN | Pathogenic | 2 | 113888645 | 113888645 | G | T | criteria provided, single submitter | ClinGen:CA124199,OMIM:147679.0002 |
Deletion | NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del) | IL1RN | Likely pathogenic | 2 | 113888627 | 113888641 | GATAGATGTGGTACCC | G | criteria provided, single submitter | - |
Deletion | NM_173842.3(IL1RN):c.156_157del (p.Asn52fs) | IL1RN | Pathogenic | 2 | 113887191 | 113887192 | AAC | A | criteria provided, single submitter | ClinGen:CA224944,OMIM:147679.0004 |
single nucleotide variant | NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter) | IL1RN | Likely pathogenic | 2 | 113885263 | 113885263 | C | G | criteria provided, single submitter | ClinGen:CA53692982 |
Deletion | NC_000016.10:g.(?_68737292)_(68835541_?)del | CDH1 | Pathogenic | 16 | 68771195 | 68869444 | na | na | criteria provided, single submitter | - |
Deletion | NM_004360.3(CDH1):c.388-?_*2042+?del | CDH1 | Pathogenic | 16 | 68842327 | 68869444 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68828164)_(68833509_?)del | CDH1 | Pathogenic | 16 | 68862067 | 68867412 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68737406)_(68833509_?)del | CDH1 | Pathogenic | 16 | 68771309 | 68867412 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68833280)_(68833509_?)del | CDH1 | Pathogenic | 16 | 68867183 | 68867412 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68833284)_(68833505_?)del | CDH1 | Pathogenic | 16 | 68867187 | 68867408 | na | na | criteria provided, single submitter | - |