| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | LOC130059850, LOC130059851 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059772, LOC130059773 +832 more | Copy number gain | See cases | |
| | LOC132090418, LOC132090419 +788 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059746, LOC130059747 +719 more | Copy number gain | See cases | |
| | LOC130059500, LOC130059501 +691 more | Copy number gain | See cases | |
| | LOC132090448, LOC132090449 +677 more | Copy number gain | See cases | |
| | LOC130059591, LOC130059592 +670 more | Copy number gain | See cases | |
| | LOC130059691, LOC130059692 +566 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC121587566, LOC121587567 +218 more | Deletion | KBG syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059772, LOC130059773 +138 more | Deletion | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | LOC130059760, LOC130059761 +129 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GALNS, LOC126862447 +4 more | Deletion | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC126862447 +4 more | Deletion | Mucopolysaccharidosis, MPS-IV-A | |
| | | Copy number loss | See cases | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | GALNS, LOC130059762 +1 more | Deletion (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | LOC130059762, GALNS +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Deletion | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | not provided +1 more | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | TRAPPC2L, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (D40G) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (D40Y) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (D40N) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GConflicting classifications of pathogenicity |
| | GALNS, LOC130059762 +1 more (D40H) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (D39fs) | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (D39G) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | GALNS, LOC130059762 +1 more (D39Y) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | GALNS, LOC130059762 +1 more (M38R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GALNS, LOC130059762 +1 more (M38L) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Microsatellite (inframe_deletion +1 more) | Morquio syndrome +2 more | GConflicting classifications of pathogenicity |
| | GALNS, LOC130059762 +1 more (L36P) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (L36R) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (L34V) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (I33V) | Single nucleotide variant (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (N32T) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GConflicting classifications of pathogenicity |
| | GALNS, LOC130059762 +1 more (N32D) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (N32fs) | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Deletion (genic upstream transcript variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (P30L) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (Q29*) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (A27fs) | Duplication (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | GALNS, LOC130059762 +1 more (G26D) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (G23R) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (M22I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GALNS, LOC130059762 +1 more (M22I) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (S18T) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (V16G) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | TRAPPC2L, GALNS +1 more (V16E) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (V16L) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (L15M) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (Q12*) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (W11R) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more (W10*) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | LOC130059762, TRAPPC2L +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |