| | LOC101928008, LOC105369149 +4 more | Deletion | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (A1806V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | SBF2, SBF2-AS1 (S1801fs +2 more) | Microsatellite (frameshift variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +1 more | |
| | SBF2, SBF2-AS1 (K1806R +4 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (Q1833R +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | SBF2, SBF2-AS1 (A1829T +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (C1828Y +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, SBF2 (V1856M +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (R1823H +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Deletion (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Duplication (intron variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +1 more | |
| | LOC105369149, SBF2 +1 more | Duplication (splice donor variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (A1814S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (K1813T +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | LOC105369149, SBF2 +1 more (K1813E +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (D1769G +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (M1804V +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (A1757D +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (A1800V +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (A1757T +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, SBF2 +1 more (A1792G +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (A1792V +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (I1789V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | LOC105369149, SBF2 +1 more (C1742Y +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (Y1734C +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (R1775H +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC105369149, SBF2 +1 more (R1775C +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | LOC105369149, SBF2 +1 more | Duplication (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Duplication (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, LOC105369149 +1 more (W1721S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, LOC105369149 +1 more (R1720H +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (P1762L +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (R1753K +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 +1 more (K1752fs +2 more) | Insertion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC105369149, SBF2 +1 more | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (L1750P +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (T1749A +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4B2 +3 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4B2 +1 more | GConflicting classifications of pathogenicity |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (S1770C +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (T1737S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 +1 more (Q1735H +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (Q1692L +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (S1734R +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (Y1733C +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4B2 +1 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC105369149, SBF2 +1 more (T1688M +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (R1684Q +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | LOC105369149, SBF2 +1 more (N1680S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (N1680D +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (S1717F +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (S1717P +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (E1745Q +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (G1712V +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | LOC105369149, SBF2 +1 more (R1701K +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (T1693S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (S1692P +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +2 more | GConflicting classifications of pathogenicity |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, LOC105369149 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (R1686S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +4 more | GConflicting classifications of pathogenicity |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | SBF2-AS1, SBF2 +1 more (S1685W +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Deletion (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |