| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM95B1, FAM95C +1214 more | Copy number gain | See cases | |
| | LOC129390066, LOC129390067 +3785 more | Copy number gain | See cases | |
| | LOC126860762, LOC126860763 +3786 more | Copy number gain | See cases | |
| | LOC124292579, LOC124292580 +3786 more | Copy number gain | See cases | |
| | LOC130001496, LOC130001497 +1062 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DENND4C, DIPK1B +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001660, LOC130001661 +3786 more | Copy number gain | See cases | |
| | LOC126860587, LOC126860588 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SPATA31A5, SPATA31A6 +980 more | Copy number gain | See cases | |
| | LINC01235, LINC01239 +899 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001820, LOC130001821 +899 more | Copy number gain | See cases | |
| | LOC130001624, LOC130001625 +894 more | Copy number gain | See cases | |
| | SLC24A2, SLC25A51 +691 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18A +219 more | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Deletion (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | GRHPR-related disorder | |
| | | Indel (5 prime UTR variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (5 prime UTR variant) | GRHPR-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (missense variant +1 more) | Primary hyperoxaluria, type II | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Nephrolithiasis/nephrocalcinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type II +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (splice donor 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) | Primary hyperoxaluria, type II | |
| | | Indel (intron variant) | Primary hyperoxaluria, type II | |
| | | Deletion (intron variant) | Primary hyperoxaluria, type II | |
| | | Deletion (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Indel (intron variant) | Primary hyperoxaluria, type II | |
| | | Deletion (intron variant) | Primary hyperoxaluria, type II +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis/nephrocalcinosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis +1 more | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Duplication (frameshift variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Primary hyperoxaluria, type II | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Indel (frameshift variant) | Primary hyperoxaluria, type II | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |