| | LOC123497907, LOC123497908 +1445 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CCNO-DT, DHX29 (T1361M +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (E1352Q +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (S714P +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (V1339I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (R1309C +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DHX29, CCNO-DT (V1253I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (L1289R +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (Q1200H +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (S555L +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DHX29, CCNO-DT (S555P +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (A1136T +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (T1086M +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (R1066Q +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (I479V +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (K1036I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (I1010M +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (R978C +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DHX29, CCNO-DT (F333S +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (H906Y +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (T312A +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (I939V +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (A914T +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (I270V +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (L847P +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DHX29, CCNO-DT (P791T +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (K779E +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (F77L +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (I64V +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CCNO-DT, DHX29 (L687I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | DHX29, LOC129993896 (T47A) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | DHX29, LOC129993896 (A10P) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Abnormal esophagus morphology | |