| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130003078, LOC130003079
+1 more | Microsatellite (inframe_deletion +1 more) | Rafiq syndrome +1 more | |
| | LOC130003078, LOC130003079
+1 more (P6S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130003078, LOC130003079
+1 more | Deletion (inframe_indel +2 more) | Inborn genetic diseases | |
| | LOC130003078, LOC130003079
+1 more (P44S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130003079, MAN1B1
+1 more (P8L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130003079, MAN1B1 (R11Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130003079, MAN1B1 (T17M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130003079, MAN1B1 (G57A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130003079, MAN1B1 (N59S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | LOC130003079, MAN1B1 (C71W) | Single nucleotide variant (missense variant +1 more) | Rafiq syndrome +3 more | |
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