| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | LOC129995188, LOC129995189 +863 more | Copy number gain | See cases | |
| | LOC129995377, LOC129995378 +676 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | FAM153A, FAM153B +176 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995388, LOC129995389 +145 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995374, LOC129995375 +136 more | Copy number loss | See cases | |
| | LOC129995362, LOC129995363 +142 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995366, LOC129995367 +113 more | Copy number loss | See cases | |
| | LOC129995370, LOC129995371 +325 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | B4GALT7, LOC129995400 (P3S) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | B4GALT7, LOC129995400 (R5W) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | B4GALT7, LOC129995400 (K7R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | B4GALT7, LOC129995400 (Q10L) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | B4GALT7, LOC129995400 (P12L) | Single nucleotide variant (missense variant) | not provided | |
| | B4GALT7, LOC129995400 (W13*) | Single nucleotide variant (nonsense) | not provided +3 more | GConflicting classifications of pathogenicity |
| | LOC129995400, B4GALT7 (G16R) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | B4GALT7, LOC129995400 (R17G) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Microsatellite (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Microsatellite (inframe_deletion) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Deletion (splice donor variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Inversion (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome progeroid type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome progeroid type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome progeroid type | |