"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AARS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	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 246063	NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)	AARS1 (R729Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
Select item 1061777	NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)	AARS1 (N657D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 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 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 476746	NM_001605.3(AARS1):c.959G>A (p.Arg320His)	AARS1 (R320H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +5 more	GUncertain significance
Select item 216549	NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)	AARS1 (P234S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 418752	NM_001605.3(AARS1):c.-21-11dup	AARS1	Duplication (intron variant)	not specified +4 more	GLikely benign