Related gene-specific medical variations for Gene (Select 84947) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329640	NM_032861.4(SERAC1):c.-52C>A	LOC129997559, SERAC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1184550	NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs)	SERAC1 (P618fs)	Insertion (frameshift variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 987052	NM_032861.4(SERAC1):c.1488dup (p.His497fs)	SERAC1 (H497fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 983367	NM_032861.4(SERAC1):c.1027A>T (p.Ile343Phe)	SERAC1 (I343F)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 804398	NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter)	SERAC1 (L233*)	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely pathogenic
Select item 680778	NM_032861.4(SERAC1):c.1166+282C>T	LOC129389704, SERAC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509458	NM_032861.4(SERAC1):c.-2+13G>A	LOC129997558, SERAC1	Single nucleotide variant (intron variant)	not specified	GLikely benign

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