| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC111822949, LOC112272574 +664 more | Copy number gain | See cases | |
| | LOC130057971, LOC130057972 +630 more | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057962, LOC130057963 +517 more | Copy number gain | See cases | |
| | LOC130058025, LOC130058026 +500 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KIF7, TICRR (I994T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (R1011Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (Q1059R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (M1075T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1096L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (G1163S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (G1199S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | TICRR, KIF7 (P1203L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (F1205I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1231L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (R1275W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (P1332R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (L1337V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (S1348I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (P1355S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (K1383N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1412R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF7, TICRR (A1414V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (D1421V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KIF7, TICRR (T1465I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (L1483F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (R1522H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (N1541K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KIF7, TICRR (S1555N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (E1562K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (A1566V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (P1603A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (L1604V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (Y1620C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (T1641P +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (P1648A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (V1665F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (P1665L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (T1667I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (A1691V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (A1695T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (G1697S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (G1701W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (A1707T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KIF7, TICRR (G1723S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1750L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (M1756V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (Q1767R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (E1781G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (R1784C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1799N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1802C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TICRR, KIF7 (T1828I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (K1863R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (S1883C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (R1884H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (R1891C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF7, TICRR (T1896N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (synonymous variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (synonymous variant) | KIF7-related condition | |
| | | Deletion (frameshift variant) | Acrocallosal syndrome | |
| | | Duplication (frameshift variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (synonymous variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | KIF7-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (nonsense) | Acrocallosal syndrome | |
| | | Single nucleotide variant (synonymous variant) | Acrocallosal syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |