"Athena Diagnostics"[submitter] AND "QARS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448152	NM_005051.3(QARS1):c.1712T>C (p.Val571Ala)	QARS1 (V571A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 571673	NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln)	QARS1 (L553Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 240091	NM_005051.3(QARS1):c.1635A>G (p.Gln545=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 586391	NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp)	QARS1 (R538W +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 944631	NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser)	QARS1 (C536S +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 383097	NM_005051.3(QARS1):c.1014T>C (p.Tyr338=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 995220	NM_005051.3(QARS1):c.674G>A (p.Arg225Gln)	QARS1 (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 381869	NM_005051.3(QARS1):c.163C>T (p.Leu55=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +2 more	GBenign