| | LOC102724058, SCN1A (W1715R +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 14 with or without anosmia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 14 with anosmia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Martsolf syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 16 with or without anosmia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ADAMTS13, LOC130002910 (S263C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense 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) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Upshaw-Schulman syndrome +1 more | |
| | | 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) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Thrombotic thrombocytopenic purpura +2 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense 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 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense 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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GPathogenic/Likely pathogenic |
| | | 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) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC125446261, MLC1 (R84C +1 more) | Single nucleotide variant (missense variant +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more | |
| | LOC125446261, MLC1 (M80I +1 more) | Single nucleotide variant (missense variant +3 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive cutis laxa type 2B +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Nicolaides-Baraitser syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Nicolaides-Baraitser syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Nicolaides-Baraitser syndrome | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Nicolaides-Baraitser syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | UV-sensitive syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |