| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | LOC129995100, LOC129995101 +294 more | Copy number loss | See cases | |
| | LINC02159, LINC02202 +279 more | Copy number loss | See cases | |
| | GRIA1, LOC126807560 +3 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | GRIA1-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GRIA1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 67 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual developmental disorder, autosomal dominant 67 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder, autosomal dominant 67 | |
| | | Single nucleotide variant (synonymous variant +3 more) | GRIA1-related condition | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | GRIA1-related condition | |
| | | Single nucleotide variant (missense variant +3 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder, autosomal dominant 67 | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | GRIA1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | GRIA1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | GRIA1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | GRIA1-related condition | |
| | | Single nucleotide variant (intron variant) | GRIA1-related condition | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | 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) | GRIA1-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | GRIA1-related condition | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual developmental disorder, autosomal recessive 76 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autism spectrum disorder | |
| | | Insertion (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | GRIA1-related condition +2 more | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 67 | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (intron variant) | GRIA1-related condition | |
| | | Single nucleotide variant (splice acceptor variant) | GRIA1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 67 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autism spectrum disorder +1 more | GPathogenic/Likely pathogenic |