| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932646, LOC129932647 +967 more | Copy number gain | See cases | |
| | LOC129932948, LOC129932949 +954 more | Copy number gain | See cases | |
| | LOC129932666, LOC129932667 +954 more | Copy number gain | See cases | |
| | LOC128772241, LOC128772242 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932613, LOC129932614 +949 more | Copy number gain | See cases | |
| | LOC129932859, LOC129932860 +869 more | Copy number gain | See cases | |
| | LOC129932775, LOC129932776 +655 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Hypohidrotic ectodermal dysplasia +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +2 more | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hypohidrotic ectodermal dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Hypohidrotic ectodermal dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more | |
| | | Deletion (intron variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Duplication (intron variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Deletion (intron variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +2 more | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hypohidrotic Ectodermal Dysplasia, Recessive +1 more | |
| | | Deletion | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (inframe_indel +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Hypohidrotic Ectodermal Dysplasia, Recessive +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | EDARADD-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_indel +1 more) | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis | |
| | | Single nucleotide variant (nonsense) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |