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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign/Likely benign
ALDH6A1, BBOF1
Duplication
(intron variant)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
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