| | ATP8A2, ATXN8OS +2049 more | Copy number loss | See cases | |
| | LOC130009892, LOC130009893 +2050 more | Copy number gain | See cases | |
| | LOC130009819, LOC130009820 +2048 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009309, LOC130009310 +2041 more | Copy number gain | See cases | |
| | LOC130009607, LOC130009608 +2029 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009383, LOC130009384 +2022 more | Copy number gain | See cases | |
| | LOC126861859, LOC126861860 +2025 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2025 more | Copy number gain | See cases | |
| | LOC130009687, LOC130009688 +1557 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009917, LOC130009918 +1288 more | Copy number gain | See cases | |
| | ARHGEF7-AS1, ARHGEF7-AS2 +1268 more | Copy number gain | See cases | |
| | LOC124946344, LOC124946345 +706 more | Copy number gain | See cases | |
| | LOC130010101, LOC130010102 +705 more | Copy number gain | See cases | |
| | LOC126861817, LOC126861818 +344 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010039, LOC130010040 +369 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124946325, LOC124946326 +271 more | Copy number loss | See cases | |
| | BIVM, BIVM-ERCC5 +184 more | Copy number gain | See cases | |
| | | Copy number loss | Holoprosencephaly 5 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090158, LOC132090159 +395 more | Copy number gain | See cases | |
| | ITGBL1, LOC121468006 +6 more | Copy number gain | See cases | |
| | LOC126088081, LOC126861831 +2 more | Copy number loss | See cases | |
| | NALCN, NALCN-AS1 (D1737H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | NALCN, NALCN-AS1 (L1706F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (G1703R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN-AS1, NALCN (E1730K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (S1757R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | NALCN, NALCN-AS1 (R1693Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1693G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | NALCN, NALCN-AS1 (R1693W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | NALCN, NALCN-AS1 (W1690* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (G1684D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | NALCN-related disorder +1 more | GConflicting classifications of pathogenicity |
| | NALCN, NALCN-AS1 (A1680V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | NALCN, NALCN-AS1 (A1709T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (P1705T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (V1671M +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN-AS1, NALCN (M1667T +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | NALCN, NALCN-AS1 (T1666A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (T1665A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (T1665P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1664K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1660Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1660W +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | NALCN, NALCN-AS1 (K1677E +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (intron variant) | NALCN-related disorder +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | NALCN-AS1, NALCN (P1644S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1671H +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | NALCN, NALCN-AS1 (R1642C +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (F1638C +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (K1637T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (A1660T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more | |
| | NALCN, NALCN-AS1 (D1659E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | NALCN-related disorder +1 more | |
| | NALCN, NALCN-AS1 (D1630A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (D1630N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (D1630H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1625Q +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | NALCN, NALCN-AS1 (R1621P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (R1650Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (S1619L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | NALCN, NALCN-AS1 (L1676P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (T1646M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NALCN, NALCN-AS1 (S1609G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (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 | |