"Eurofins Ntd Llc (ga)"[submitter] AND "AARS1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194936	NM_001605.3(AARS1):c.2521-3C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
Select item 284220	NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)	AARS1 (S731L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 284186	NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp)	AARS1 (R683W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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 239030	NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +7 more	GBenign/Likely benign
Select item 389061	NM_001605.3(AARS1):c.1275T>C (p.Thr425=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284185	NM_001605.3(AARS1):c.1168C>T (p.Arg390Cys)	AARS1 (R390C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 282997	NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +7 more	GBenign/Likely benign
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 197729	NM_001605.3(AARS1):c.600C>T (p.Ala200=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity