Deletion | NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del) | IL1RN | Likely pathogenic | 2 | 113888627 | 113888641 | GATAGATGTGGTACCC | G | criteria provided, single submitter | - |
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 | 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.229G>T (p.Glu77Ter) | IL1RN | Pathogenic | 2 | 113888645 | 113888645 | G | T | criteria provided, single submitter | ClinGen:CA124199,OMIM:147679.0002 |
single nucleotide variant | NM_004360.5(CDH1):c.2165-2A>G | CDH1 | Likely pathogenic | 16 | 68862075 | 68862075 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000016.10:g.(?_68801660)_(68801903_?)del | CDH1 | Pathogenic | 16 | 68835563 | 68835806 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004360.5(CDH1):c.2295+1G>C | CDH1 | Likely pathogenic | 16 | 68862208 | 68862208 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004360.5(CDH1):c.164-1G>A | CDH1 | Likely pathogenic | 16 | 68835572 | 68835572 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000016.10:g.(?_68815505)_(68815769_?)del | CDH1 | Pathogenic | 16 | 68849408 | 68849672 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68810187)_(68813505_?)del | CDH1 | Likely pathogenic | 16 | 68844090 | 68847408 | na | na | criteria provided, single submitter | - |