"GeneDx"[submitter] AND "HARS2"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 351247	NC_000005.10:g.140691368G>A	HARS1, HARS2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 390694	NM_012208.4(HARS2):c.-32C>T	LOC119407423, HARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 137536	NM_012208.4(HARS2):c.7C>G (p.Leu3Val)	HARS2, LOC119407423 (L3V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3361452	NM_012208.4(HARS2):c.73G>C (p.Ala25Pro)	HARS2, LOC119407423 (A25P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2136282	NM_012208.4(HARS2):c.94C>G (p.Arg32Gly)	HARS2, LOC119407423 (R32G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1187517	NM_012208.4(HARS2):c.109-296G>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215658	NM_012208.4(HARS2):c.109-243dup	HARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1221130	NM_012208.4(HARS2):c.109-243del	HARS2	Deletion (intron variant)	not provided	GBenign
Select item 228735	NM_012208.4(HARS2):c.145C>T (p.His49Tyr)	HARS2 (H49Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 214538	NM_012208.4(HARS2):c.151G>A (p.Glu51Lys)	HARS2 (E51K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 214536	NM_012208.4(HARS2):c.152A>G (p.Glu51Gly)	HARS2 (E51G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 228736	NM_012208.4(HARS2):c.165TAT[1] (p.Ile57del)	HARS2 (I57del +1 more)	Microsatellite (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 214542	NM_012208.4(HARS2):c.172A>G (p.Lys58Glu)	HARS2 (K58E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1707367	NM_012208.4(HARS2):c.174G>T (p.Lys58Asn)	HARS2 (K58N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 675851	NM_012208.4(HARS2):c.184-41T>G	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517888	NM_012208.4(HARS2):c.184-16T>C	HARS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1205814	NM_012208.4(HARS2):c.184-3C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3364905	NM_012208.4(HARS2):c.193G>A (p.Asp65Asn)	HARS2 (D40N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276847	NM_012208.4(HARS2):c.303+34C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190427	NM_012208.4(HARS2):c.303+36C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192906	NM_012208.4(HARS2):c.304-25G>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196249	NM_012208.4(HARS2):c.304-4dup	HARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1187578	NM_012208.4(HARS2):c.304-4A>G	HARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2168774	NM_012208.4(HARS2):c.324T>G (p.Tyr108Ter)	HARS2 (Y38* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 137534	NM_012208.4(HARS2):c.324T>C (p.Tyr108=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome 2 +2 more	GBenign/Likely benign
Select item 1253986	NM_012208.4(HARS2):c.371A>C (p.Glu124Ala)	HARS2 (E124A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306739	NM_012208.4(HARS2):c.385C>T (p.Arg129Cys)	HARS2 (R104C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1350913	NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys)	HARS2 (Y105C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 137535	NM_012208.4(HARS2):c.399+18G>A	HARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1203004	NM_012208.4(HARS2):c.399+244C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673718	NM_012208.4(HARS2):c.400-288C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265432	NM_012208.4(HARS2):c.400-80_400-79insTTGATATAG	HARS2	Insertion (intron variant)	not provided	GBenign
Select item 214543	NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)	HARS2 (R150C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2662637	NM_012208.4(HARS2):c.472C>T (p.Arg158Trp)	HARS2 (R133W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225386	NM_012208.4(HARS2):c.489dup (p.Ile164fs)	HARS2 (I139fs +3 more)	Duplication (frameshift variant +1 more)	Perrault syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 3368039	NM_012208.4(HARS2):c.515T>G (p.Phe172Cys)	HARS2 (F102C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 510064	NM_012208.4(HARS2):c.564C>T (p.Pro188=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683906	NM_012208.4(HARS2):c.587T>C (p.Met196Thr)	HARS2 (M126T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39620	NM_012208.4(HARS2):c.598C>G (p.Leu200Val)	HARS2 (L200V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 214544	NM_012208.4(HARS2):c.633+1G>A	HARS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 680340	NM_012208.4(HARS2):c.633+4A>T	HARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 675596	NM_012208.4(HARS2):c.633+44C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429211	NM_012208.4(HARS2):c.641A>G (p.Asp214Gly)	HARS2 (D214G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505172	NM_012208.4(HARS2):c.643C>T (p.Arg215Trp)	HARS2 (R215W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214546	NM_012208.4(HARS2):c.697C>T (p.Arg233Cys)	HARS2 (R233C +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 214539	NM_012208.4(HARS2):c.698G>A (p.Arg233His)	HARS2 (R233H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706243	NM_012208.4(HARS2):c.705C>G (p.Ile235Met)	HARS2 (I165M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702738	NM_012208.4(HARS2):c.732+6_732+8del	HARS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1193861	NM_012208.4(HARS2):c.732+60A>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662342	NM_012208.4(HARS2):c.784C>G (p.Pro262Ala)	HARS2 (P118A +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1700974	NM_012208.4(HARS2):c.803T>C (p.Ile268Thr)	HARS2 (I124T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178369	NM_012208.4(HARS2):c.827-93dup	HARS2	Duplication (intron variant)	not provided	GBenign
Select item 1218760	NM_012208.4(HARS2):c.827-93del	HARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1190116	NM_012208.4(HARS2):c.827-94_827-93del	HARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1211474	NM_012208.4(HARS2):c.827-81_827-79del	HARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 214540	NM_012208.4(HARS2):c.868C>T (p.Leu290=)	HARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 214541	NM_012208.4(HARS2):c.932C>A (p.Thr311Asn)	HARS2 (T311N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 214545	NM_012208.4(HARS2):c.956T>C (p.Ile319Thr)	HARS2 (I319T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 511703	NM_012208.4(HARS2):c.973C>T (p.Leu325=)	HARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1207440	NM_012208.4(HARS2):c.1017A>G (p.Ala339=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1707373	NM_012208.4(HARS2):c.1033C>T (p.Pro345Ser)	HARS2 (P201S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237486	NM_012208.4(HARS2):c.1039C>G (p.Gln347Glu)	HARS2 (Q203E +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2 +1 more	GUncertain significance
Select item 227424	NM_012208.4(HARS2):c.1077T>G (p.Ala359=)	HARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 386926	NM_012208.4(HARS2):c.1092T>C (p.Tyr364=)	HARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214547	NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)	HARS2 (G369R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2444638	NM_012208.4(HARS2):c.1120A>G (p.Lys374Glu)	HARS2 (K230E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367889	NM_012208.4(HARS2):c.1147C>T (p.Leu383Phe)	HARS2 (L239F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321767	NM_012208.4(HARS2):c.1153A>G (p.Ile385Val)	HARS2 (I241V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505744	NM_012208.4(HARS2):c.1217G>A (p.Arg406Gln)	HARS2 (R406Q +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1305122	NM_012208.4(HARS2):c.1239T>C (p.Phe413=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1206267	NM_012208.4(HARS2):c.1254G>C (p.Gln418His)	HARS2 (Q274H +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2 +2 more	GUncertain significance
Select item 1210515	NM_012208.4(HARS2):c.1281G>A (p.Lys427=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 675595	NM_012208.4(HARS2):c.1315-104A>G	HARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200769	NM_012208.4(HARS2):c.1315-101C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707990	NM_012208.4(HARS2):c.1316C>G (p.Ala439Gly)	HARS2 (A295G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505878	NM_012208.4(HARS2):c.1340C>T (p.Pro447Leu)	HARS2 (P303L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801003	NM_012208.4(HARS2):c.1343A>G (p.Lys448Arg)	HARS2 (K304R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413088	NM_012208.4(HARS2):c.1354C>T (p.Gln452Ter)	HARS2 (Q308* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1712610	NM_012208.4(HARS2):c.1403G>T (p.Gly468Val)	HARS2 (G324V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515183	NM_012208.4(HARS2):c.1421A>G (p.Glu474Gly)	HARS2 (E474G +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2581799	NM_012208.4(HARS2):c.1432A>G (p.Lys478Glu)	HARS2 (K334E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227426	NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)	HARS2 (R480L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 671555	NM_012208.4(HARS2):c.1461+36A>G	HARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1202282	NM_012208.4(HARS2):c.1462-205G>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198671	NM_012208.4(HARS2):c.1462-102G>A	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253972	NM_012208.4(HARS2):c.1462-12C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680872	NM_012208.4(HARS2):c.1462-8T>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305014	NM_012208.4(HARS2):c.1484T>G (p.Phe495Cys)	HARS2 (F351C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214548	NM_012208.4(HARS2):c.1512dup (p.Glu505Ter)	HARS2 (E435* +4 more)	Duplication (nonsense)	not specified	GUncertain significance
Select item 517495	NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp)	HARS2 (E505D +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 390418	NM_012208.4(HARS2):c.*15C>T	HARS2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3361449	NM_012208.4(HARS2):c.706T>C (p.Cys236Arg)	HARS2 (C166R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 93