| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | LOC126862482, POLR2A (S1290C) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | LOC126862482, POLR2A (F1388L) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | POLR2A, LOC126862481 (I848T) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | LOC126862482, POLR2A (N1316D) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | LOC126862481, POLR2A (A897T) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more | GPathogenic/Likely pathogenic |
| | LOC126862481, POLR2A (F836L) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases | |
| | LOC126862482, POLR2A (G1418R) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |