| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | LOC129935258, LOC129935259 +312 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | CALCRL, CALCRL-AS1 +88 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | FSIP2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | FSIP2, FSIP2-AS2 +1 more (C31R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-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 | |
| | | Deletion (frameshift variant) | Spermatogenic failure 34 | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (nonsense) | Spermatogenic failure 34 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (intron variant) | FSIP2-related condition | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant) | Spermatogenic failure 34 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | FSIP2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Duplication (non-coding transcript variant +1 more) | Spermatogenic failure 34 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | FSIP2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | FSIP2-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Spermatogenic failure 34 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | FSIP2-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 | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Spermatogenic failure 34 | |
| | | Single nucleotide variant (synonymous variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | FSIP2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |