"Revvity Omics, Revvity"[submitter] AND "AARS1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 507511	NM_001605.3(AARS1):c.2521-5T>G	AARS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1682116	NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn)	AARS1 (D836N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2438704	NM_001605.3(AARS1):c.2156C>G (p.Ser719Cys)	AARS1 (S719C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800394	NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)	AARS1 (T639I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 637511	NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	AARS1 (T608M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 1042111	NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys)	AARS1 (Y535C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 654287	NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala)	AARS1 (P421A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 695603	NM_001605.3(AARS1):c.966T>C (p.Tyr322=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 412291	NM_001605.3(AARS1):c.894G>A (p.Leu298=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1799939	NM_001605.3(AARS1):c.877A>T (p.Met293Leu)	AARS1 (M293L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 385892	NM_001605.3(AARS1):c.581G>A (p.Arg194Gln)	AARS1 (R194Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 412290	NM_001605.3(AARS1):c.525C>G (p.Phe175Leu)	AARS1 (F175L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1979251	NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)	AARS1 (P168S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 157537	NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)	AARS1 (I166S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 961074	NM_001605.3(AARS1):c.80A>G (p.His27Arg)	AARS1 (H27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance