"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "QARS1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379466	NM_005051.3(QARS1):c.2164G>T (p.Val722Leu)	QARS1 (V711L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 477838	NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu)	QARS1 (P708L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 544133	NM_005051.3(QARS1):c.1825G>A (p.Ala609Thr)	QARS1 (A609T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1163829	NM_005051.3(QARS1):c.1778C>T (p.Pro593Leu)	QARS1 (P582L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2137529	NM_005051.3(QARS1):c.1673G>A (p.Arg558His)	QARS1 (R558H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 546115	NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln)	QARS1 (R523Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 507210	NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)	QARS1 (R509W +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 380083	NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)	QARS1 (V476I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449755	NM_005051.3(QARS1):c.1246G>A (p.Val416Ile)	QARS1 (V416I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1044182	NM_005051.3(QARS1):c.977G>A (p.Gly326Asp)	QARS1 (G315D +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance
Select item 1163246	NM_005051.3(QARS1):c.971G>T (p.Trp324Leu)	QARS1 (W313L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 477846	NM_005051.3(QARS1):c.858C>A (p.Phe286Leu)	QARS1 (F286L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 453034	NM_005051.3(QARS1):c.557A>G (p.Glu186Gly)	QARS1 (E186G +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance
Select item 972046	NM_005051.3(QARS1):c.461G>A (p.Arg154Gln)	QARS1 (R143Q +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 850990	NM_005051.3(QARS1):c.337G>A (p.Val113Met)	QARS1 (V113M +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 3379467	NM_005051.3(QARS1):c.278A>T (p.Tyr93Phe)	QARS1 (Y82F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 856316	NM_005051.3(QARS1):c.92C>T (p.Ala31Val)	LOC129936736, QARS1 (A31V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance