| | | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129930347, LOC129930348 +91 more | Copy number loss | Epilepsy syndrome | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal Hypomagnesemia, Recessive | |
| | | Deletion (3 prime UTR variant) | Renal Hypomagnesemia, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Renal hypomagnesemia 5 with ocular involvement +1 more | |
| | | 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 | |
| | | Duplication (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 (3 prime UTR variant +2 more) | not provided | |
| | | Indel (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (missense variant +1 more) | Renal hypomagnesemia 5 with ocular involvement +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CLDN19-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Renal hypomagnesemia 5 with ocular involvement +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Renal hypomagnesemia 5 with ocular involvement | |
| | | 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 +1 more) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (missense variant +1 more) | Renal hypomagnesemia 5 with ocular involvement | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal hypomagnesemia 5 with ocular involvement | |