"Illumina Laboratory Services, Illumina"[submitter] AND "AARS2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 132

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357021	NM_020745.4(AARS2):c.*1811C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357022	NM_020745.4(AARS2):c.*1720C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357023	NM_020745.4(AARS2):c.*1719T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357024	NM_020745.4(AARS2):c.*1710G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357025	NM_020745.4(AARS2):c.*1706C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357026	NM_020745.4(AARS2):c.1635_1636insAA	AARS2, POLR1C	Insertion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
Select item 357027	NM_020745.4(AARS2):c.*1603C>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357028	NM_020745.4(AARS2):c.*1576A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357029	NM_020745.4(AARS2):c.*1549C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910886	NM_020745.4(AARS2):c.*1536G>C	POLR1C, AARS2	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357030	NM_020745.4(AARS2):c.*1485G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910887	NM_020745.4(AARS2):c.*1473G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357031	NM_020745.4(AARS2):c.*1473del	AARS2, POLR1C	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 910888	NM_020745.4(AARS2):c.*1471C>T	POLR1C, AARS2	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357032	NM_020745.4(AARS2):c.*1359A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 912111	NM_020745.4(AARS2):c.*1326A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912112	NM_020745.4(AARS2):c.*1310T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357033	NM_020745.4(AARS2):c.*1300C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 912113	NM_020745.4(AARS2):c.*1293A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357034	NM_020745.4(AARS2):c.1284_1287del	AARS2, POLR1C	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 357035	NM_020745.4(AARS2):c.*1284del	AARS2, POLR1C	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
Select item 357036	NM_020745.4(AARS2):c.*1252A>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912114	NM_020745.4(AARS2):c.*1197C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357037	NM_020745.4(AARS2):c.*1112dup	AARS2, POLR1C	Duplication (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 912115	NM_020745.4(AARS2):c.*1045G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912116	NM_020745.4(AARS2):c.*1007A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GLikely benign
Select item 357038	NM_020745.4(AARS2):c.*997G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357039	NM_020745.4(AARS2):c.*982G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357040	NM_020745.4(AARS2):c.*926C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357041	NM_020745.4(AARS2):c.*753C>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908108	NM_020745.4(AARS2):c.*752G>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357042	NM_020745.4(AARS2):c.*718C>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908109	NM_020745.4(AARS2):c.*683C>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357043	NM_020745.4(AARS2):c.633_634insGGTATGGGTGCCCT	AARS2, POLR1C	Insertion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
Select item 908110	NM_020745.4(AARS2):c.*627G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357044	NM_020745.4(AARS2):c.555_556insATAAA	AARS2, POLR1C	Insertion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
Select item 910056	NM_020745.4(AARS2):c.*448G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357045	NM_020745.4(AARS2):c.*423G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357046	NM_020745.4(AARS2):c.*408G>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357047	NM_020745.4(AARS2):c.*394C>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357048	NM_020745.4(AARS2):c.*366T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357049	NM_020745.4(AARS2):c.*343G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357050	NM_020745.4(AARS2):c.*341G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 910956	NM_020745.4(AARS2):c.*317G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357051	NM_020745.4(AARS2):c.*279G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357052	NM_020745.4(AARS2):c.*262T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357053	NM_020745.4(AARS2):c.*256A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910957	NM_020745.4(AARS2):c.*155C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912180	NM_020745.4(AARS2):c.*51T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357054	NM_020745.4(AARS2):c.*9C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 912181	NM_020745.4(AARS2):c.2937C>G (p.Thr979=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357055	NM_020745.4(AARS2):c.2871A>G (p.Ser957=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 357056	NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr)	AARS2, POLR1C (A954T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357057	NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser)	POLR1C, AARS2 (G932S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 908171	NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly)	AARS2, POLR1C (R901G)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 235275	NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp)	AARS2, POLR1C (R901W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632485	NM_020745.4(AARS2):c.2683-1G>T	AARS2, POLR1C	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 721782	NM_020745.4(AARS2):c.2683-10C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357058	NM_020745.4(AARS2):c.2679C>T (p.Leu893=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 908172	NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys)	AARS2, POLR1C (E891K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908173	NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp)	AARS2, POLR1C (S879W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 136220	NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp)	POLR1C, AARS2 (R877W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 357059	NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 389042	NM_020745.4(AARS2):c.2598+11G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 213959	NM_020745.4(AARS2):c.2551C>G (p.Leu851Val)	AARS2, POLR1C (L851V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GUncertain significance
Select item 136218	NM_020745.4(AARS2):c.2548A>G (p.Met850Val)	AARS2, POLR1C (M850V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 136217	NM_020745.4(AARS2):c.2440G>A (p.Val814Met)	AARS2, POLR1C (V814M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 136216	NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln)	AARS2, POLR1C (L809Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 910126	NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser)	AARS2, POLR1C (I766S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357060	NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys)	AARS2, POLR1C (R756C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 136215	NM_020745.4(AARS2):c.2253G>A (p.Gly751=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	AARS2-related condition +3 more	GBenign/Likely benign
Select item 911017	NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr)	AARS2, POLR1C (A741T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 357061	NM_020745.4(AARS2):c.2202G>A (p.Leu734=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 136214	NM_020745.4(AARS2):c.2188G>A (p.Val730Met)	POLR1C, AARS2 (V730M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 281937	NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln)	AARS2, POLR1C (R722Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 213971	NM_020745.4(AARS2):c.2162T>C (p.Val721Ala)	AARS2, POLR1C (V721A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357062	NM_020745.4(AARS2):c.2146-11C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357063	NM_020745.4(AARS2):c.2132G>A (p.Arg711His)	AARS2, POLR1C (R711H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 136213	NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln)	POLR1C, AARS2 (R678Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 357064	NM_020745.4(AARS2):c.2007+8C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	AARS2-related condition +3 more	GBenign/Likely benign
Select item 912247	NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys)	AARS2, POLR1C (Q669K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912248	NM_020745.4(AARS2):c.1788T>C (p.Cys596=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 136232	NM_020745.4(AARS2):c.1753-13T>C	POLR1C, AARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 357065	NM_020745.4(AARS2):c.1753-14C>G	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 136231	NM_020745.4(AARS2):c.1752G>A (p.Glu584=)	POLR1C, AARS2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 357066	NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr)	AARS2, POLR1C (R561T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 357067	NM_020745.4(AARS2):c.1661G>A (p.Arg554His)	AARS2, POLR1C (R554H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 203376	NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys)	AARS2, POLR1C (R554C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213956	NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala)	AARS2, POLR1C (G550A)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GConflicting classifications of pathogenicity
Select item 357068	NM_020745.4(AARS2):c.1644C>T (p.Ser548=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 213955	NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys)	POLR1C, AARS2 (E541K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 357069	NM_020745.4(AARS2):c.1569C>T (p.Ser523=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	AARS2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 357070	NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	AARS2, POLR1C (D512H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 908245	NM_020745.4(AARS2):c.1533C>T (p.Asp511=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908246	NM_020745.4(AARS2):c.1474T>C (p.Leu492=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357071	NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp)	AARS2, POLR1C (R482W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 510665	NM_020745.4(AARS2):c.1434+7G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 136230	NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)	AARS2, POLR1C (R471Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +3 more	GBenign/Likely benign
Select item 136229	NM_020745.4(AARS2):c.1398C>T (p.Ser466=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 632486	NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter)	AARS2, POLR1C (Q463*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 8	GUncertain significance

<< First< Prev

Page of 2