"Illumina Laboratory Services, Illumina"[submitter] AND "AARS1"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +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 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 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 320324	NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)	AARS1 (N911S)	Single nucleotide variant (missense variant)	AARS1-related condition +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 320325	NM_001605.3(AARS1):c.2715T>C (p.Val905=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 320326	NM_001605.3(AARS1):c.2700G>A (p.Thr900=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 215498	NM_001605.3(AARS1):c.2608-6C>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
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 700156	NM_001605.3(AARS1):c.2592C>T (p.Ser864=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 320328	NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	AARS1	Single nucleotide variant (synonymous variant)	AARS1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 194936	NM_001605.3(AARS1):c.2521-3C>T	AARS1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 220930	NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)	AARS1 (K820R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 320329	NM_001605.3(AARS1):c.2421C>A (p.Ile807=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 514785	NM_001605.3(AARS1):c.2401-11A>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GConflicting classifications of pathogenicity
Select item 320330	NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr)	AARS1 (R793T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320331	NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg)	AARS1 (K747R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320332	NM_001605.3(AARS1):c.2217C>T (p.Ile739=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 155734	NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	AARS1 (R729W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 377399	NM_001605.3(AARS1):c.2178-14G>A	AARS1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 320333	NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)	AARS1 (P710L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 888499	NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)	AARS1 (E705K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320334	NM_001605.3(AARS1):c.2109G>C (p.Val703=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GConflicting classifications of pathogenicity
Select item 888500	NM_001605.3(AARS1):c.2019G>C (p.Leu673=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely benign
Select item 320335	NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)	AARS1 (R616C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 320336	NM_001605.3(AARS1):c.1824G>A (p.Thr608=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2429419	NM_001605.3(AARS1):c.1765G>T (p.Val589Phe)	AARS1 (V589F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632263	NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter)	AARS1 (Q588*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320337	NM_001605.3(AARS1):c.1737C>T (p.Ile579=)	AARS1	Single nucleotide variant (synonymous variant)	AARS1-related condition +5 more	GBenign/Likely 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 390405	NM_001605.3(AARS1):c.1671+10C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 884280	NM_001605.3(AARS1):c.1656T>C (p.Asp552=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 884281	NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)	AARS1 (E545K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 320338	NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp)	AARS1 (E537D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320339	NM_001605.3(AARS1):c.1596C>A (p.Thr532=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 320340	NM_001605.3(AARS1):c.1587G>A (p.Leu529=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GConflicting classifications of pathogenicity
Select item 543286	NM_001605.3(AARS1):c.1509G>A (p.Val503=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 320341	NM_001605.3(AARS1):c.1493-7T>C	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 246158	NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)	AARS1 (S494I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 382360	NM_001605.3(AARS1):c.1428G>C (p.Arg476=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 320342	NM_001605.3(AARS1):c.1410C>T (p.Ile470=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 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 axonal type 2N +7 more	GBenign/Likely benign
Select item 886311	NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)	AARS1 (G459R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 320343	NM_001605.3(AARS1):c.1332G>A (p.Glu444=)	AARS1	Single nucleotide variant (synonymous variant)	AARS1-related condition +5 more	GBenign/Likely benign
Select item 320344	NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)	AARS1 (Y418C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 320345	NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)	AARS1 (I374V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 887306	NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)	AARS1 (M370I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 887307	NM_001605.3(AARS1):c.1059C>T (p.Val353=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 282997	NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	AARS1	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, hereditary diffuse, with spheroids 2 +8 more	GBenign/Likely benign
Select item 810831	NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)	AARS1 (T348M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 320346	NM_001605.3(AARS1):c.962+15C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 888557	NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)	AARS1 (D316Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320347	NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)	AARS1 (A302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 287973	NM_001605.3(AARS1):c.903C>T (p.His301=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 888558	NM_001605.3(AARS1):c.828C>G (p.Ala276=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 320348	NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)	AARS1 (G275D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 320349	NM_001605.3(AARS1):c.806C>G (p.Ala269Gly)	AARS1 (A269G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320350	NM_001605.3(AARS1):c.741G>A (p.Leu247=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 216549	NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)	AARS1 (P234S)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 320351	NM_001605.3(AARS1):c.671+3A>G	AARS1	Single nucleotide variant (intron variant)	not provided +2 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
Select item 320352	NM_001605.3(AARS1):c.561C>T (p.Cys187=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 245983	NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)	AARS1 (D173G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +3 more	GConflicting classifications of pathogenicity
Select item 884346	NM_001605.3(AARS1):c.501C>T (p.Leu167=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 320353	NM_001605.3(AARS1):c.480-8T>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 698631	NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)	AARS1 (A144T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +3 more	GConflicting classifications of pathogenicity
Select item 681412	NM_001605.3(AARS1):c.342A>C (p.Ala114=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GConflicting classifications of pathogenicity
Select item 320354	NM_001605.3(AARS1):c.333+3A>C	AARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 579370	NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)	AARS1 (N71S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 320355	NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)	AARS1 (T31A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GUncertain significance
Select item 320356	NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)	AARS1 (E22K)	Single nucleotide variant (missense variant)	AARS1-related condition +3 more	GBenign/Likely benign
Select item 476742	NM_001605.3(AARS1):c.63C>T (p.Asn21=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 320357	NM_001605.2(AARS1):c.-108T>C	AARS1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81