"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MOCS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1481782	NM_001358530.2(MOCS1):c.1801G>A (p.Ala601Thr)	MOCS1 (A514T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356643	NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His)	MOCS1 (R485H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign/Likely benign
Select item 6118	NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs)	MOCS1 (E503fs +2 more)	Microsatellite (3 prime UTR variant +2 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GLikely pathogenic
Select item 242558	NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)	MOCS1 (E285K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 356660	NM_001358530.2(MOCS1):c.645+9G>C	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GBenign
Select item 1022098	NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly)	MOCS1 (E114G +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GUncertain significance
Select item 356663	NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr)	MOCS1 (A174T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 451421	NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu)	MOCS1 (M1L)	Single nucleotide variant (missense variant +3 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GUncertain significance