| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | C17orf47, CCDC182 +168 more | Copy number loss | See cases | |
| | LOC126862606, LOC129390904 +2 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | LOC130061315, LOC130061316 +9 more | Deletion | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Deletion (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (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) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (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 (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC126862606, TRIM37 (P690fs +6 more) | Deletion (frameshift variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC126862606, TRIM37 (D926Y +6 more) | Single nucleotide variant (missense variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126862606, TRIM37 (E671K +6 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC126862606, TRIM37 (D903N +6 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC126862606, TRIM37 (S877T +6 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC126862606, TRIM37 (M655I +6 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | TRIM37, LOC126862606 (P903del +1 more) | Deletion (inframe_deletion +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (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) | Mulibrey nanism syndrome | |