| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 8 | |
| | | Single nucleotide variant (nonsense) | P3H1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant +1 more) | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC106780800, CYP21A2 (W20*) | Single nucleotide variant (nonsense +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (I173N +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (V238E +5 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (V238E +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (V238E +8 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (M240K +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC106780800, CYP21A2 (L107V +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (V282L +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 (L173fs +2 more) | Duplication (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 +1 more (Q319* +2 more) | Single nucleotide variant (nonsense) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +3 more | |
| | CYP21A2, LOC106780800 +1 more (R357W +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC106780800, CYP21A2 (P483S +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | LOC106029312, NCF1 (Y26fs) | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Bone fragility with contractures, arterial rupture, and deafness +1 more | |
| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP11B1, LOC106799833 (P414A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CYP11B1, LOC106799833 (R374Q) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (T318M) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | CYP11B1, LOC106799833 (L211P) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | PPDPFL, PPP1R16A +665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Orthostatic hypotension 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |
| | PROSER2-AS1, PRPF18 +680 more | Copy number loss | See cases | |
| | LOC126860819, LOC126860820 +680 more | Copy number gain | See cases | |
| | ACBD7, ACBD7-DCLRE1CP1 +837 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003217, LOC130003218 +482 more | Copy number loss | See cases | |
| | ACBD7, ACBD7-DCLRE1CP1 +388 more | Copy number loss | See cases | |