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.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 | 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_004360.5(CDH1):c.781G>T (p.Glu261Ter) | CDH1 | Pathogenic | 16 | 68844193 | 68844193 | G | T | reviewed by expert panel | ClinGen:CA121997,OMIM:192090.0004 |
Duplication | NM_004360.5(CDH1):c.2386dup (p.Arg796fs) | CDH1 | Likely pathogenic | 16 | 68863642 | 68863643 | T | TC | reviewed by expert panel | OMIM:192090.0006 |
single nucleotide variant | NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) | CDH1 | Pathogenic | 16 | 68857460 | 68857460 | C | T | reviewed by expert panel | ClinGen:CA280993,OMIM:192090.0007 |
single nucleotide variant | NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) | CDH1 | Pathogenic | 16 | 68772210 | 68772210 | G | A | reviewed by expert panel | ClinGen:CA280996,OMIM:192090.0009 |
single nucleotide variant | NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) | CDH1 | Pathogenic | 16 | 68772221 | 68772221 | G | T | reviewed by expert panel | ClinGen:CA280997,OMIM:192090.0011 |
single nucleotide variant | NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) | CDH1 | Pathogenic | 16 | 68855984 | 68855984 | C | T | reviewed by expert panel | ClinGen:CA281000,OMIM:192090.0012 |