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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 320320	NM_001605.3(AARS1):c.*251A>C	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 320323	NM_001605.3(AARS1):c.*74A>T	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign
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 504085	NM_001605.3(AARS1):c.2871del (p.Phe958fs)	AARS1 (F958fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364397	NM_001605.3(AARS1):c.2818G>A (p.Ala940Thr)	AARS1 (A940T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 155735	NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)	AARS1 (G931S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GBenign/Likely benign
Select item 1052612	NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala)	AARS1 (S924A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
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 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 1218123	NM_001605.3(AARS1):c.2722-133_2722-132del	AARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 320325	NM_001605.3(AARS1):c.2715T>C (p.Val905=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 515299	NM_001605.3(AARS1):c.2712A>G (p.Gln904=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 320326	NM_001605.3(AARS1):c.2700G>A (p.Thr900=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 675697	NM_001605.3(AARS1):c.2607+43T>C	AARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320327	NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)	AARS1 (A866T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 320328	NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1208908	NM_001605.3(AARS1):c.2552G>C (p.Ser851Thr)	AARS1 (S851T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246012	NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn)	AARS1 (S851N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 382758	NM_001605.3(AARS1):c.2547C>T (p.Ile849=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 429270	NM_001605.3(AARS1):c.2536A>G (p.Lys846Glu)	AARS1 (K846E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386350	NM_001605.3(AARS1):c.2532G>A (p.Lys844=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 507511	NM_001605.3(AARS1):c.2521-5T>G	AARS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 386600	NM_001605.3(AARS1):c.2521-10T>C	AARS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 220930	NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)	AARS1 (K820R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 3373371	NM_001605.3(AARS1):c.2416G>A (p.Val806Ile)	AARS1 (V806I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514785	NM_001605.3(AARS1):c.2401-11A>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 388743	NM_001605.3(AARS1):c.2401-11A>C	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 673437	NM_001605.3(AARS1):c.2401-283T>C	AARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3376075	NM_001605.3(AARS1):c.2353A>C (p.Thr785Pro)	AARS1 (T785P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515376	NM_001605.3(AARS1):c.2287-16C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 676184	NM_001605.3(AARS1):c.2287-95A>G	AARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679008	NM_001605.3(AARS1):c.2286+200_2286+201del	AARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1190737	NM_001605.3(AARS1):c.2286+174A>G	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 216547	NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys)	AARS1 (E759K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 381273	NM_001605.3(AARS1):c.2265C>T (p.Val755=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 1298667	NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln)	AARS1 (R750Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1303974	NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)	AARS1 (R750W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +2 more	GUncertain significance
Select item 388683	NM_001605.3(AARS1):c.2238C>T (p.Ala746=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 817289	NM_001605.3(AARS1):c.2235dup (p.Ala746fs)	AARS1 (A746fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 246148	NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)	AARS1 (T741M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 264996	NM_001605.3(AARS1):c.2218G>C (p.Val740Leu)	AARS1 (V740L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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 246064	NM_001605.3(AARS1):c.2207C>T (p.Ala736Val)	AARS1 (A736V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 377399	NM_001605.3(AARS1):c.2178-14G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GLikely benign
Select item 1178488	NM_001605.3(AARS1):c.2177+130A>G	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 510418	NM_001605.3(AARS1):c.2112C>T (p.Ser704=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3363354	NM_001605.3(AARS1):c.2111C>T (p.Ser704Phe)	AARS1 (S704F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373315	NM_001605.3(AARS1):c.2089G>A (p.Val697Ile)	AARS1 (V697I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3342965	NM_001605.3(AARS1):c.2083C>G (p.Arg695Gly)	AARS1 (R695G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942167	NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln)	AARS1 (R683Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 808067	NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)	AARS1 (V666A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 508300	NM_001605.3(AARS1):c.1993-4G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 1220233	NM_001605.3(AARS1):c.1992+189C>T	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213501	NM_001605.3(AARS1):c.1992+181del	AARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1230605	NM_001605.3(AARS1):c.1992+139A>G	AARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250942	NM_001605.3(AARS1):c.1992+83_1992+84del	AARS1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 423513	NM_001605.3(AARS1):c.1992+5G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1304397	NM_001605.3(AARS1):c.1979T>C (p.Ile660Thr)	AARS1 (I660T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429803	NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg)	AARS1 (K650R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 383479	NM_001605.3(AARS1):c.1842C>T (p.Ala614=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 320336	NM_001605.3(AARS1):c.1824G>A (p.Thr608=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 637511	NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	AARS1 (T608M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
Select item 393118	NM_001605.3(AARS1):c.1812C>G (p.Asn604Lys)	AARS1 (N604K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 580953	NM_001605.3(AARS1):c.1805T>C (p.Met602Thr)	AARS1 (M602T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1682196	NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu)	AARS1 (R597L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1198421	NM_001605.3(AARS1):c.1785+293G>T	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673488	NM_001605.3(AARS1):c.1785+257G>A	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320337	NM_001605.3(AARS1):c.1737C>T (p.Ile579=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 385578	NM_001605.3(AARS1):c.1704C>T (p.Val568=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 155733	NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)	AARS1 (T562I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +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 508244	NM_001605.3(AARS1):c.1672-10C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1191003	NM_001605.3(AARS1):c.1672-24G>C	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186542	NM_001605.3(AARS1):c.1672-33T>G	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211108	NM_001605.3(AARS1):c.1672-100T>C	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677700	NM_001605.3(AARS1):c.1672-205G>C	AARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390405	NM_001605.3(AARS1):c.1671+10C>T	AARS1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 245833	NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)	AARS1 (S555I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 439344	NM_001605.3(AARS1):c.1632C>T (p.Asp544=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1006799	NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser)	AARS1 (A536S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1042111	NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys)	AARS1 (Y535C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1313352	NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn)	AARS1 (D530N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 947633	NM_001605.3(AARS1):c.1546G>A (p.Val516Met)	AARS1 (V516M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 387311	NM_001605.3(AARS1):c.1546G>C (p.Val516Leu)	AARS1 (V516L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 372287	NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys)	AARS1 (R510C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 425110	NM_001605.3(AARS1):c.1519A>G (p.Met507Val)	AARS1 (M507V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 373214	NM_001605.3(AARS1):c.1515G>A (p.Thr505=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1195470	NM_001605.3(AARS1):c.1493-168C>T	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186827	NM_001605.3(AARS1):c.1493-172C>T	AARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677699	NM_001605.3(AARS1):c.1493-187T>C	AARS1	Single nucleotide variant (intron variant)	not provided	GBenign

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