| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 3 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | NDUFB11-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | NDUFB11-related disorder | |
| | | Single nucleotide variant (nonsense) | Linear skin defects with multiple congenital anomalies 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Deletion | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | |
| | | Deletion | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | |
| | | Duplication | Neurodegeneration with brain iron accumulation 5 +2 more | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 30 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Complex | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 3 | |
| | LOC130068208, NDUFB11 +1 more (S6P) | Single nucleotide variant (5 prime UTR variant +1 more) | RBM10-related disorder +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | RBM10, LOC130068208 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Linear skin defects with multiple congenital anomalies 3 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 30 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Inversion | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 30 +1 more | |
| | ARHGAP36, ARHGAP4 +818 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 1 | |
| | | Copy number loss | See cases | |
| | SUPT20HL2, SYAP1 +177 more | Deletion | Neurodevelopmental disorder | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | | Copy number gain | not provided | |