| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 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 | |
| | LOC130000086, LOC130000087 +932 more | 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 | |
| | LOC130000069, LOC130000070 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | 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 | |
| | 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 loss | See cases | |
| | LOC124174256, LOC124174257 +541 more | Copy number gain | See cases | |
| | | Copy number loss | Hypogonadotropic hypogonadism 2 with or without anosmia | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LETM2, LOC102723716 (R198T +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LETM2, LOC102723716 (S157C +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (R227H +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (E186A +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (D124E +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (A242T +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (A143D +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (R169Q +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (T155M +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (R268L +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (V197I +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (R340C +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LETM2, LOC102723716 (L232P +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (E415Q +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (I261T +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LETM2, LOC102723716 (P254H +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | 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 | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | Hereditary spastic paraplegia 54 | |
| | | Duplication | Hereditary spastic paraplegia 54 +3 more | |
| | | 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 loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | C8orf86, RAB11FIP1 +18 more | Copy number gain | See cases | |