"Clinical Genetics, Academic Medical Center"[submitter] AND "AARS1"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220723	NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)	AARS1 (K967M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +5 more	GBenign/Likely benign
Select item 155735	NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)	AARS1 (G931S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 320325	NM_001605.3(AARS1):c.2715T>C (p.Val905=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 194936	NM_001605.3(AARS1):c.2521-3C>T	AARS1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 220930	NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)	AARS1 (K820R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 320332	NM_001605.3(AARS1):c.2217C>T (p.Ile739=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 155734	NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	AARS1 (R729W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
Select item 320337	NM_001605.3(AARS1):c.1737C>T (p.Ile579=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 155733	NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)	AARS1 (T562I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +3 more	GBenign/Likely benign
Select item 215497	NM_001605.3(AARS1):c.1672-4T>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +7 more	GBenign/Likely benign
Select item 320343	NM_001605.3(AARS1):c.1332G>A (p.Glu444=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 568982	NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)	AARS1 (P368S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 412288	NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	AARS1 (N340S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 287973	NM_001605.3(AARS1):c.903C>T (p.His301=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +3 more	GBenign
Select item 945940	NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)	AARS1 (R246*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic