single nucleotide variant | NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) | NCF4 | Pathogenic | 22 | 37263476 | 37263476 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA129011,UniProtKB:Q15080#VAR_065949,OMIM:601488.0002 |
single nucleotide variant | NM_000631.5(NCF4):c.118-1G>A | NCF4 | Pathogenic/Likely pathogenic | 22 | 37260960 | 37260960 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10212869,OMIM:601488.0003 |
single nucleotide variant | NM_001770.6(CD19):c.1372+1G>A | CD19 | Likely pathogenic | 16 | 28948845 | 28948845 | G | A | criteria provided, single submitter | ClinGen:CA16620185 |
Deletion | NC_000022.11:g.(?_19722428)_(19975757_?)del | TBX1 | Pathogenic | 22 | 19709951 | 19963280 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_19755901)_(19783042_?)del | TBX1 | Pathogenic | 22 | 19743424 | 19770565 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.10:g.(?_18910310)_(19770565_?)del | TBX1 | Pathogenic | 22 | 18910310 | 19770565 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.10:g.(?_18900668)_(19770565_?)del | TBX1 | Pathogenic | 22 | 18900668 | 19770565 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_19755901)_(19766877_?)del | TBX1 | Pathogenic | 22 | 19743424 | 19754400 | na | na | criteria provided, single submitter | - |
Duplication | NM_001379200.1(TBX1):c.1360_1381dup (p.Pro461fs) | TBX1 | Likely pathogenic | 22 | 19754233 | 19754234 | A | ACGGCTACCACCCGCACGCGCAT | criteria provided, single submitter | ClinGen:CA16621037 |
Deletion | NM_001379200.1(TBX1):c.1336_1337del (p.Pro446fs) | TBX1 | Likely pathogenic | 22 | 19754210 | 19754211 | ACC | A | criteria provided, single submitter | ClinGen:CA658799490 |