| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 32 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC112543452, MAST1 (P771T) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, CASK-related, X-linked | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 58 | |
| | TBCEL-TECTA, TECTA (V415L +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 21 | |
| | | Single nucleotide variant (intron variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | |
| | | Indel (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 6 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nephrotic syndrome | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cataract 10 multiple types | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 45 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Deletion (inframe_deletion) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Insertion (frameshift variant) | Primary ciliary dyskinesia +1 more | |
| | DNAH8, DNAH8-AS1 (E3571D +1 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Glomerulonephritis +2 more | |
| | | Single nucleotide variant (nonsense) | Nephrotic syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Pierson syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate E +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria | |
| | PLCE1, NOC3L (D1906N +2 more) | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Van Maldergem syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 46 +1 more | |
| | | Single nucleotide variant (missense variant) | Brunner syndrome | |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more | |
| | | Single nucleotide variant (missense variant) | Clark-Baraitser syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bartter disease type 4A | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with dysmorphic facies and ptosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 6 | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Wieacker-Wolff syndrome, female-restricted +1 more | |
| | | Deletion (frameshift variant) | Microform holoprosencephaly +1 more | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | |
| | | Indel (frameshift variant) | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Mowat-Wilson syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal dominant 30 +2 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | DNM1, LOC113839516 (P195L) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31A | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive Alport syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | OFD1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |