| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KIF5B, LOC126860907 (T843A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | KIF5B, LOC130003643 (L18F) | Single nucleotide variant (missense variant) | not specified | |
| | KIF5B, LOC126860907 (S833T) | Single nucleotide variant (missense variant) | not specified | |
| | KIF5B, LOC126860908 (F52L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Feeding difficulties +3 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
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