| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC126862500, LOC126862501 +461 more | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | ALOX12B, ALOX15B +141 more | Deletion | Li-Fraumeni syndrome | |
| | LOC112533665, LOC116276454 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | LOC130060203, LOC130060204 +110 more | Copy number gain | See cases | |
| | | Copy number loss | Leukoencephalopathy with calcifications and cysts | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130060223, SNORD118 +1 more | Deletion (3 prime UTR variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leukoencephalopathy with calcifications and cysts +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TMEM107-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Inversion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Indel (non-coding transcript variant +1 more) | not provided | |
| | | Indel (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TMEM107-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TMEM107-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leukoencephalopathy with calcifications and cysts | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |