"Fulgent Genetics, Fulgent Genetics"[submitter] AND "QARS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 544147	NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly)	QARS1 (D754G +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +2 more	GUncertain significance
Select item 842831	NM_005051.3(QARS1):c.1561G>A (p.Ala521Thr)	QARS1 (A510T +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 409239	NM_005051.3(QARS1):c.1267A>G (p.Thr423Ala)	QARS1 (T423A +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 583355	NM_005051.3(QARS1):c.769C>A (p.Leu257Met)	QARS1 (L257M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 409237	NM_005051.3(QARS1):c.316G>A (p.Asp106Asn)	QARS1 (D106N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 477845	NM_005051.3(QARS1):c.83C>A (p.Ala28Asp)	LOC129936736, QARS1 (A28D)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance