"Revvity Omics, Revvity"[submitter] AND "QARS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1345319	NM_005051.3(QARS1):c.2293del (p.Thr765fs)	QARS1 (T754fs +1 more)	Deletion (frameshift variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance
Select item 838551	NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys)	QARS1 (Y643C +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 949381	NM_005051.3(QARS1):c.1822T>G (p.Phe608Val)	QARS1 (F597V +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2435344	NM_005051.3(QARS1):c.1591G>A (p.Ala531Thr)	QARS1 (A520T +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1324980	NM_005051.3(QARS1):c.1325_1326del (p.His442fs)	QARS1 (H431fs +1 more)	Microsatellite (frameshift variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely pathogenic
Select item 2435343	NM_005051.3(QARS1):c.1090G>C (p.Glu364Gln)	QARS1 (E353Q +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 828125	NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)	QARS1 (G342V +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2193859	NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)	QARS1 (P258L +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 838552	NM_005051.3(QARS1):c.665A>C (p.Glu222Ala)	QARS1 (E211A +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 452878	NM_005051.3(QARS1):c.602G>A (p.Arg201Gln)	QARS1 (R201Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 544146	NM_005051.3(QARS1):c.117+5G>A	LOC129936736, QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance