| | | Single nucleotide variant (intron variant) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Duplication (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice donor variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice donor variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice donor variant) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +3 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | Mulibrey nanism syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Mulibrey nanism syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | LOC126862606, TRIM37 (P690fs +6 more) | Deletion (frameshift variant +2 more) | Mulibrey nanism syndrome | |
| | | Duplication (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Duplication (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +3 more) | Mulibrey nanism syndrome | |
| | | Duplication (splice donor variant) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Mulibrey nanism syndrome | |
| | | Insertion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Mulibrey nanism syndrome +1 more | |
| | | Duplication (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Microsatellite (frameshift variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Mulibrey nanism syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Microsatellite (frameshift variant +2 more) | Mulibrey nanism syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | See cases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice donor variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Mulibrey nanism syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Copy number loss | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | 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 (5 prime UTR variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (intron variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (intron variant) | Mulibrey nanism syndrome | |
| | LOC126862606, TRIM37 (E671K +6 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (intron variant) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 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 (intron variant) | not provided +1 more | |
| | | Insertion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | LOC130061315, LOC130061316 +9 more | Deletion | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant) | Birk-Barel syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Mulibrey nanism syndrome | |