| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | DNAJC17, ZFYVE19 (A31F +1 more) | Indel (missense variant +1 more) | not provided | |
| | ZFYVE19, DNAJC17 (A31S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DNAJC17, ZFYVE19 (E20A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more (I18M) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more (G17S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more (S39N) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more (L8S) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more (E6D) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | DNAJC17, LOC130056871 +1 more (E6A) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 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) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (nonsense +1 more) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (nonsense +1 more) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ZFYVE19-related condition | |
| | | 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 (missense variant) | ZFYVE19-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | ZFYVE19-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Copy number gain | not provided | |
| | | Complex | Spindle cell sarcoma | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |