| | | Single nucleotide variant (splice acceptor variant) | FIBP-related disorder | |
| | | Single nucleotide variant (nonsense) | FIBP-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FIBP, LOC130006079 (K238Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | FIBP-related disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not specified | |
| | | Deletion | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Tall stature-intellectual disability-renal anomalies syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Deletion | Intellectual disability | |
| | | Single nucleotide variant (intron variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Cutis laxa, autosomal recessive, type 1B | |
| | | Copy number gain | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Insertion (inframe_indel) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (nonsense) | Tall stature-intellectual disability-renal anomalies syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |