"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AARS1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2078432	NM_001605.3(AARS1):c.2859G>C (p.Gln953His)	AARS1 (Q953H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1682085	NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)	AARS1 (W919*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GUncertain significance
Select item 1682088	NM_001605.3(AARS1):c.2722-28_2740dup	AARS1	Duplication (splice acceptor variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 320324	NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)	AARS1 (N911S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 1163392	NM_001605.3(AARS1):c.2662A>C (p.Met888Leu)	AARS1 (M888L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418601	NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu)	AARS1 (F722L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 543167	NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser)	AARS1 (N604S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 412292	NM_001605.3(AARS1):c.1651G>A (p.Val551Met)	AARS1 (V551M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 387201	NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr)	AARS1 (A469T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 412288	NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	AARS1 (N340S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 2573065	NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)	AARS1 (R296Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 639394	NM_001605.3(AARS1):c.726G>A (p.Met242Ile)	AARS1 (M242I)	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 246216	NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)	AARS1 (P129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1907753	NM_001605.3(AARS1):c.182A>G (p.His61Arg)	AARS1 (H61R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance