C4040739[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1179660	NM_032861.4(SERAC1):c.1684+209T>C	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1211090	NM_032861.4(SERAC1):c.1684+168T>C	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 378570	NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)	SERAC1 (M466L)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 1448668	NM_032861.4(SERAC1):c.1309-19T>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GConflicting classifications of pathogenicity
Select item 379679	NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 379678	NM_032861.4(SERAC1):c.1137A>G (p.Val379=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 379677	NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 516308	NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)	SERAC1 (T147M)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +2 more	GBenign/Likely benign