| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806791, MYLK
+1 more (N1522H +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | LOC126806791, MYLK
+1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more | |
| | LOC126806791, MYLK
+1 more (D1613N +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more | |
| | LOC126806791, MYLK
+1 more (N1603S +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | LOC126806791, MYLK
+1 more (D1666G +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 7 +2 more | |
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