Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro) | IL36RN | Pathogenic | 2 | 113818479 | 113818479 | T | C | criteria provided, multiple submitters, no conflicts | OMIM:605507.0001,ClinGen:CA129266,UniProtKB:Q9UBH0#VAR_066646 |
single nucleotide variant | NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) | CARD14 | Pathogenic | 17 | 78156589 | 78156589 | G | A | criteria provided, single submitter | ClinGen:CA129841,UniProtKB/Swiss-Prot:VAR_068224,OMIM:607211.0001 |
single nucleotide variant | NM_001366385.1(CARD14):c.349+5G>A | CARD14 | Pathogenic | 17 | 78156594 | 78156594 | G | A | criteria provided, single submitter | ClinGen:CA129842,OMIM:607211.0002 |
single nucleotide variant | NM_001366385.1(CARD14):c.349+1G>A | CARD14 | Pathogenic | 17 | 78156590 | 78156590 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603326,OMIM:607211.0008 |
single nucleotide variant | NM_001366385.1(CARD14):c.412G>A (p.Glu138Lys) | CARD14 | Pathogenic | 17 | 78157774 | 78157774 | G | A | criteria provided, single submitter | - |