"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BBOF1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887995	NM_005589.4(ALDH6A1):c.*2517T>C	ALDH6A1, BBOF1	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonate semialdehyde dehydrogenase deficiency	GBenign/Likely benign
Select item 314175	NM_005589.4(ALDH6A1):c.853-11dup	ALDH6A1, BBOF1	Duplication (intron variant)	Methylmalonate semialdehyde dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 314177	NM_005589.4(ALDH6A1):c.731-12T>C	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 314180	NM_005589.4(ALDH6A1):c.414A>G (p.Val138=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 314181	NM_005589.4(ALDH6A1):c.349-13G>A	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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