| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | LOC126860345, LOC126860346 +1103 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000086, LOC130000087 +932 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121331299, LOC121331300 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000305, LOC130000306 +927 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000069, LOC130000070 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC101929258, LOC101929470 +920 more | Copy number gain | See cases | |
| | LOC113788273, LOC113788274 +805 more | Copy number gain | See cases | |
| | LOC129999948, LOC129999949 +855 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000249, LOC130000250 +789 more | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +920 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | MAK16, TTI2 (Y461C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAK16, TTI2 (I449S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAK16, TTI2 (L476V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAK16, TTI2 (G444S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAK16, TTI2 (R441W +1 more) | Single nucleotide variant (missense variant +1 more) | Microcephaly | |
| | MAK16, TTI2 (R436C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | MAK16, TTI2 (D435A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MAK16, TTI2 (A422T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAK16, TTI2 (K420* +1 more) | Duplication (nonsense +1 more) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more | GConflicting classifications of pathogenicity |
| | TTI2, MAK16 (I436N +1 more) | Single nucleotide variant (missense variant +1 more) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
| | MAK16, TTI2 (L402V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAK16, TTI2 (L425R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | not specified | |
| | DEFB134, DEFB135 +234 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Complex | See cases | |
| | ASAH1-AS1, ASH2L +251 more | Complex | 8p inverted duplication/deletion syndrome | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ASAH1-AS1, ATP6V1B2 +129 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PPDPFL, PPP1R16A +665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |