| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AS3MT, BORCS7-ASMT (Y117H) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | AS3MT, BORCS7-ASMT (I279V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | AS3MT, BORCS7-ASMT (Q317R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | AS3MT, BORCS7-ASMT (V186I) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | AS3MT, BORCS7-ASMT (M119V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BORCS7-ASMT, AS3MT (T104S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BORCS7-ASMT, AS3MT (G208S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BORCS7-ASMT, AS3MT (V273A) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BORCS7-ASMT, LOC107984265 +1 more (D345G) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
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