| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064933, LOC130064934 +1093 more | Copy number gain | See cases | |
| | LOC113939975, LOC116286194 +806 more | Copy number gain | See cases | |
| | MIR498, MIR512-1 +782 more | Copy number gain | See cases | |
| | LOC130065070, LOC130065071 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065086, LOC130065087 +537 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (T971M +2 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 +1 more | |
| | NCR1, NLRP7 (T1000A +2 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (G998R +2 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | NCR1, NLRP7 (N966S +2 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (V1011L +2 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (E1010D +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NCR1, NLRP7 (E971K +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (intron variant) | Hydatidiform mole | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Deletion (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | NCR1, NLRP7 (L964P +1 more) | Single nucleotide variant (missense variant +1 more) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (splice donor variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (R909fs +1 more) | Duplication (frameshift variant) | NLRP7-related condition | |
| | NCR1, NLRP7 (L908I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NCR1, NLRP7 (H907Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NCR1, NLRP7 (N902Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | NCR1, NLRP7 (R917H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | NCR1, NLRP7 (N913S +1 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (synonymous variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (T878K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hydatidiform mole, recurrent, 1 +1 more | |
| | NCR1, NLRP7 (L871F +1 more) | Single nucleotide variant (missense variant) | Hydatidiform mole | |
| | | Single nucleotide variant (synonymous variant) | Hydatidiform mole, recurrent, 1 +2 more | |
| | NCR1, NLRP7 (C857Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Microsatellite (intron variant) | Hydatidiform mole | |
| | NCR1, NLRP7 (L823V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NCR1, NLRP7 (H850Y +1 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (synonymous variant) | NLRP7-related condition | |
| | NCR1, NLRP7 (C807F +1 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (R801C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Insertion (intron variant) | Hydatidiform mole, recurrent, 1 | |
| | | Single nucleotide variant (splice donor variant) | Hydatidiform mole, recurrent, 1 | |
| | NCR1, NLRP7 (H818R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NCR1, NLRP7 (R787H +1 more) | Single nucleotide variant (missense variant) | NLRP7-related condition +1 more | |
| | NCR1, NLRP7 (M785I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NCR1, NLRP7 (M779R +1 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 +1 more | |
| | NCR1, NLRP7 (L773P +1 more) | Single nucleotide variant (missense variant) | Hydatidiform mole, recurrent, 1 | |