| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806816, LOC126806817 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (M207V +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (I213V +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (L163V +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (H165R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (H218Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (R236C +2 more) | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic liver disease | |
| | RUVBL1, SEC61A1 (R236H +2 more) | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic liver disease | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (I246L +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | RUVBL1, SEC61A1 (I196V +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (F199S +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (V260A +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (V202A +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperuricemic nephropathy, familial juvenile type 4 +1 more | |
| | RUVBL1, SEC61A1 (R262Q +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | RUVBL1, SEC61A1 (S216L +2 more) | Single nucleotide variant (missense variant +1 more) | Hyperuricemic nephropathy, familial juvenile type 4 | |
| | RUVBL1, SEC61A1 (R218C +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | RUVBL1, SEC61A1 (R273S +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (S278I +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (Y279C +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (S293P +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (inframe_indel +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (S313R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | RUVBL1, SEC61A1 (W271R +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | RUVBL1, SEC61A1 (D332G +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | RUVBL1, SEC61A1 (T327M +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SEC61A1, RUVBL1 (S328F +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (S329P +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (G330R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (P332L +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (V301M +2 more) | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | RUVBL1, SEC61A1 (D357Y +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SEC61A1, RUVBL1 (V359L +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SEC61A1, RUVBL1 (W379R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RUVBL1, SEC61A1 (E381* +2 more) | Single nucleotide variant (nonsense +1 more) | Immunodeficiency, common variable, 15 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Duplication (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 +1 more | |
| | | Single nucleotide variant (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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SEC61A1, RUVBL1 (K339N +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |