single nucleotide variant | NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) | TBX1 | Pathogenic | 22 | 19748685 | 19748685 | A | T | criteria provided, single submitter | ClinGen:CA410681602 |
Duplication | NM_001379200.1(TBX1):c.525_528dup (p.Lys177delinsArgTer) | TBX1 | Pathogenic | 22 | 19750850 | 19750851 | A | ACGAT | criteria provided, single submitter | ClinGen:CA10603687 |
single nucleotide variant | NM_001379200.1(TBX1):c.823G>T (p.Glu275Ter) | TBX1 | Pathogenic | 22 | 19752592 | 19752592 | G | T | criteria provided, single submitter | ClinGen:CA16621036 |
single nucleotide variant | NM_001379200.1(TBX1):c.935G>A (p.Trp312Ter) | TBX1 | Pathogenic | 22 | 19753348 | 19753348 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001379200.1(TBX1):c.936-2A>G | TBX1 | Pathogenic | 22 | 19753423 | 19753423 | A | G | criteria provided, single submitter | ClinGen:CA410683738 |
Duplication | NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408fs) | TBX1 | Pathogenic | 22 | 19754074 | 19754075 | G | GCCGGCCCAGTCCCCCGAACC | criteria provided, single submitter | ClinGen:CA16043162 |
single nucleotide variant | NM_001379200.1(TBX1):c.1296C>G (p.Tyr432Ter) | TBX1 | Likely pathogenic | 22 | 19754171 | 19754171 | C | G | criteria provided, single submitter | ClinGen:CA410684880 |
Deletion | NM_001379200.1(TBX1):c.1336_1337del (p.Pro446fs) | TBX1 | Likely pathogenic | 22 | 19754210 | 19754211 | ACC | A | criteria provided, single submitter | ClinGen:CA658799490 |
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 | NC_000022.11:g.(?_19755901)_(19766877_?)del | TBX1 | Pathogenic | 22 | 19743424 | 19754400 | na | na | criteria provided, single submitter | - |