| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DM1-AS, LOC107075317
+1 more (R168H) | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 2 | |
| | DM1-AS, DMPK
+1 more (L580P +10 more) | Single nucleotide variant (missense variant +1 more) | Steinert myotonic dystrophy syndrome | |
| | DM1-AS, DMPK
+2 more (P557L +8 more) | Single nucleotide variant (missense variant +2 more) | Steinert myotonic dystrophy syndrome | |
| | DM1-AS, DMPK
+1 more (L438R +5 more) | Single nucleotide variant (missense variant +1 more) | Steinert myotonic dystrophy syndrome | |
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