"OMIM"[submitter] AND "AARS1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246598	NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)	AARS1 (G913D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1331693	NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr)	AARS1 (C901Y)	Single nucleotide variant (missense variant)	Trichothiodystrophy 8, nonphotosensitive	GPathogenic
Select item 190954	NM_001605.3(AARS1):c.2677G>A (p.Asp893Asn)	AARS1 (D893N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1331695	NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile)	AARS1 (T756I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 190103	NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)	AARS1 (R751G)	Single nucleotide variant (missense variant)	AARS-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1331694	NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala)	AARS1 (T726A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 654144	NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)	AARS1 (I699T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1325386	NM_001605.3(AARS1):c.2067dup (p.Tyr690fs)	AARS1 (Y690fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 29	GPathogenic
Select item 1323797	NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)	AARS1 (E337K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 8466	NM_001605.3(AARS1):c.986G>A (p.Arg329His)	AARS1 (R329H)	Single nucleotide variant	not provided +3 more	GPathogenic/Likely pathogenic
Select item 623889	NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)	AARS1 (R326W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1299470	NM_001605.3(AARS1):c.455G>T (p.Cys152Phe)	AARS1 (C152F)	Single nucleotide variant (missense variant)	Leukoencephalopathy, hereditary diffuse, with spheroids 2 +1 more	GPathogenic/Likely pathogenic
Select item 190102	NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	AARS1 (K81T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30155	NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)	AARS1 (N71Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GConflicting classifications of pathogenicity