| | LOC129929105, LOC129929106
+2149 more | Copy number gain | Trisomy 12p | |
| | | Single nucleotide variant (missense variant) | HNRNPR-related disorder | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | HNRNPR-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | ANGPTL7, C1orf127
+783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |