"Ambry Genetics"[submitter] AND "LOC129936736"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311923	NM_005051.3(QARS1):c.97C>A (p.Leu33Met)	LOC129936736, QARS1 (L33M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150295	NM_005051.3(QARS1):c.68C>G (p.Thr23Arg)	LOC129936736, QARS1 (T23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520899	NM_005051.3(QARS1):c.40G>A (p.Gly14Ser)	LOC129936736, QARS1 (G14S)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance
Select item 3311919	NM_005051.3(QARS1):c.37C>T (p.Leu13Phe)	LOC129936736, QARS1 (L13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150294	NM_005051.3(QARS1):c.35G>T (p.Ser12Ile)	LOC129936736, QARS1 (S12I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 955316	NM_005051.3(QARS1):c.23C>T (p.Ser8Leu)	LOC129936736, QARS1 (S8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2368630	NM_005051.3(QARS1):c.19C>G (p.Leu7Val)	LOC129936736, QARS1 (L7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar