AARS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 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 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
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 320319	NM_001605.3(AARS1):c.*324G>A	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
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 320321	NM_001605.3(AARS1):c.*213C>T	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely benign
Select item 320322	NM_001605.3(AARS1):c.*169C>G	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 885336	NM_001605.3(AARS1):c.*141A>G	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GBenign
Select item 885337	NM_001605.3(AARS1):c.*131G>A	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
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 885338	NM_001605.3(AARS1):c.*32T>C	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 543305	NC_000016.9:g.(?_70286604)_(70296447_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 656813	NC_000016.9:g.(?_70286614)_(70669268_?)dup	AARS1, COG4 +27 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 648520	NC_000016.9:g.(?_70286614)_(70296437_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2733163	NM_001605.3(AARS1):c.2906G>C (p.Ter969Ser)	AARS1	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 853978	NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn)	AARS1 (K967N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 220723	NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)	AARS1 (K967M)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1986230	NM_001605.3(AARS1):c.2890G>A (p.Gly964Arg)	AARS1 (G964R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1682081	NM_001605.3(AARS1):c.2889C>G (p.Leu963=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 766566	NM_001605.3(AARS1):c.2889C>T (p.Leu963=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3251173	NM_001605.3(AARS1):c.2884C>T (p.Arg962Cys)	AARS1 (R962C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693783	NM_001605.3(AARS1):c.2882T>C (p.Leu961Pro)	AARS1 (L961P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2234316	NM_001605.3(AARS1):c.2880G>C (p.Gln960His)	AARS1 (Q960H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 946848	NM_001605.3(AARS1):c.2879A>C (p.Gln960Pro)	AARS1 (Q960P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 549676	NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser)	AARS1 (F958S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GLikely pathogenic
Select item 504085	NM_001605.3(AARS1):c.2871del (p.Phe958fs)	AARS1 (F958fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2727147	NM_001605.3(AARS1):c.2870C>A (p.Ser957Tyr)	AARS1 (S957Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 565349	NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys)	AARS1 (S957C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2751080	NM_001605.3(AARS1):c.2868T>G (p.Thr956=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2902260	NM_001605.3(AARS1):c.2867C>G (p.Thr956Ser)	AARS1 (T956S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 643884	NM_001605.3(AARS1):c.2867C>T (p.Thr956Ile)	AARS1 (T956I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1984663	NM_001605.3(AARS1):c.2863G>C (p.Ala955Pro)	AARS1 (A955P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3136136	NM_001605.3(AARS1):c.2861T>A (p.Leu954Gln)	AARS1 (L954Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682082	NM_001605.3(AARS1):c.2860C>T (p.Leu954=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2078432	NM_001605.3(AARS1):c.2859G>C (p.Gln953His)	AARS1 (Q953H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2173397	NM_001605.3(AARS1):c.2853G>A (p.Ala951=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 949111	NM_001605.3(AARS1):c.2849A>T (p.Glu950Val)	AARS1 (E950V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 476740	NM_001605.3(AARS1):c.2845C>G (p.Gln949Glu)	AARS1 (Q949E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543271	NM_001605.3(AARS1):c.2841C>T (p.Cys947=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2716528	NM_001605.3(AARS1):c.2838C>T (p.Gly946=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2781079	NM_001605.3(AARS1):c.2837G>T (p.Gly946Val)	AARS1 (G946V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1682083	NM_001605.3(AARS1):c.2835T>C (p.Val945=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2907519	NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)	AARS1 (T941R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1960914	NM_001605.3(AARS1):c.2822C>T (p.Thr941Ile)	AARS1 (T941I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 957117	NM_001605.3(AARS1):c.2819C>T (p.Ala940Val)	AARS1 (A940V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	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 2751141	NM_001605.3(AARS1):c.2818G>T (p.Ala940Ser)	AARS1 (A940S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 695748	NM_001605.3(AARS1):c.2817G>A (p.Gln939=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 543169	NM_001605.3(AARS1):c.2817G>T (p.Gln939His)	AARS1 (Q939H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2852095	NM_001605.3(AARS1):c.2814A>C (p.Ala938=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2163739	NM_001605.3(AARS1):c.2811T>C (p.Ser937=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 155735	NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)	AARS1 (G931S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 2179721	NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)	AARS1 (G929S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1799834	NM_001605.3(AARS1):c.2785G>C (p.Gly929Arg)	AARS1 (G929R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 766189	NM_001605.3(AARS1):c.2776T>C (p.Leu926=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely 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 1682084	NM_001605.3(AARS1):c.2765A>T (p.Gln922Leu)	AARS1 (Q922L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1682085	NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)	AARS1 (W919*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GUncertain significance
Select item 698066	NM_001605.3(AARS1):c.2754G>A (p.Glu918=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682086	NM_001605.3(AARS1):c.2752G>A (p.Glu918Lys)	AARS1 (E918K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2959220	NM_001605.3(AARS1):c.2751C>T (p.Ser917=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682087	NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg)	AARS1 (S917R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1981327	NM_001605.3(AARS1):c.2748C>T (p.Ala916=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682088	NM_001605.3(AARS1):c.2722-28_2740dup	AARS1	Duplication (splice acceptor variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1041309	NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer)	AARS1	Deletion (nonsense)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1018727	NM_001605.3(AARS1):c.2738G>T (p.Gly913Val)	AARS1 (G913V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 2133547	NM_001605.3(AARS1):c.2736G>T (p.Arg912=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682089	NM_001605.3(AARS1):c.2735G>A (p.Arg912Gln)	AARS1 (R912Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 704502	NM_001605.3(AARS1):c.2730C>T (p.Ala910=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GLikely benign
Select item 2867139	NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)	AARS1 (A910T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2732614	NM_001605.3(AARS1):c.2724T>A (p.Asn908Lys)	AARS1 (N908K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1682090	NM_001605.3(AARS1):c.2724T>C (p.Asn908=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2164918	NM_001605.3(AARS1):c.2722-2A>C	AARS1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1062015	NM_001605.3(AARS1):c.2722-2A>T	AARS1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1682091	NM_001605.3(AARS1):c.2722-7C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2718920	NM_001605.3(AARS1):c.2722-9del	AARS1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682092	NM_001605.3(AARS1):c.2722-12C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682093	NM_001605.3(AARS1):c.2722-16C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2172243	NM_001605.3(AARS1):c.2722-20C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1218123	NM_001605.3(AARS1):c.2722-133_2722-132del	AARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1682094	NM_001605.3(AARS1):c.2721+17A>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682097	NM_001605.3(AARS1):c.2721+15G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682096	NM_001605.3(AARS1):c.2721+15G>C	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682095	NM_001605.3(AARS1):c.2721+15G>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682098	NM_001605.3(AARS1):c.2721+14C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2727072	NM_001605.3(AARS1):c.2721+12C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682099	NM_001605.3(AARS1):c.2721+8C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682100	NM_001605.3(AARS1):c.2721+3C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance

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