| | | Deletion | Primary ciliary dyskinesia 16 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ENTPD5, COQ6 (N120S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (P334T +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | COQ6-related disorder | |
| | ENTPD5, COQ6 (S327L +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COQ6, ENTPD5 (L408F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COQ6, ENTPD5 (L409F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ENTPD5, COQ6 (T128fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | COQ6, ENTPD5 (G213A +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ENTPD5, COQ6 (D113G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | COQ6, ENTPD5 (R92Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (R137L +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | COQ6, ENTPD5 (R190L +1 more) | Single nucleotide variant (missense variant +2 more) | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COQ6, FAM161B (H41Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COQ6, ENTPD5 (V118M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COQ6, ENTPD5 (R318Q +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | COQ6, ENTPD5 (I339T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (P307T +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | COQ6, ENTPD5 (M157I +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (D377N +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (S294R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (V293F +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (D159N +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | COQ6, ENTPD5 (S309G +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COQ6, ENTPD5 (N186S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ENTPD5, COQ6 (I307V +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COQ6, ENTPD5 (V290L +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COQ6, ENTPD5 (Y141C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | COQ6, ENTPD5 (L152V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ENTPD5, COQ6 (R335Q +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | COQ6, ENTPD5 (G219R +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COQ6, ENTPD5 (S230C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | COQ6, ENTPD5 (E287fs +1 more) | Deletion (frameshift variant +2 more) | not provided | |
| | COQ6, ENTPD5 (Q461* +1 more) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ENTPD5, COQ6 (R345K +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | COQ6-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |