"GeneDx"[submitter] AND "HARS1"[gene] - ClinVar

Search results

Items: 96

	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 351235	NM_002109.6(HARS1):c.*281C>T	HARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1200823	NM_002109.6(HARS1):c.*244A>G	HARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1053083	NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg)	HARS1 (C393R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2506840	NM_002109.6(HARS1):c.1500_1502del (p.Arg501del)	HARS1 (R387del +6 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1183834	NM_002109.6(HARS1):c.1459-22C>T	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186857	NM_002109.6(HARS1):c.1459-43A>T	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226650	NM_002109.6(HARS1):c.1458+7G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B +1 more	GBenign
Select item 1091017	NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)	HARS1 (T368R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +2 more	GConflicting classifications of pathogenicity
Select item 472990	NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)	HARS1 (T482M +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 856475	NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)	HARS1 (G360R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1024208	NM_002109.6(HARS1):c.1407G>C (p.Gln469His)	HARS1 (Q355H +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 540202	NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)	HARS1 (E468K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 425356	NM_002109.6(HARS1):c.1399G>A (p.Gly467Ser)	HARS1 (G467S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1317108	NM_002109.6(HARS1):c.1394T>C (p.Ile465Thr)	HARS1 (I351T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578537	NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)	HARS1 (A458T +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1317109	NM_002109.6(HARS1):c.1315G>A (p.Glu439Lys)	HARS1 (E325K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227423	NM_002109.6(HARS1):c.1312-8C>T	HARS1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1263929	NM_002109.6(HARS1):c.1312-75G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 540208	NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)	HARS1 (L421V +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2574432	NM_002109.6(HARS1):c.1258C>G (p.Leu420Val)	HARS1 (L306V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 948429	NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)	HARS1 (R331Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 946891	NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)	HARS1 (E287Q +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 472988	NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)	HARS1 (A399V +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1274044	NM_002109.6(HARS1):c.1195-250G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192095	NM_002109.6(HARS1):c.1195-289dup	HARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1288096	NM_002109.6(HARS1):c.1195-276del	HARS1	Deletion (intron variant)	not provided	GBenign
Select item 1197531	NM_002109.6(HARS1):c.1195-297C>T	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220898	NM_002109.6(HARS1):c.1194+92del	HARS1	Deletion (intron variant)	not provided	GBenign
Select item 1700978	NM_002109.6(HARS1):c.1183C>A (p.Gln395Lys)	HARS1 (Q281K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046782	NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)	HARS1 (E358K +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866457	NM_002109.6(HARS1):c.1156G>A (p.Val386Met)	HARS1 (V326M +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 472987	NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)	HARS1 (K376R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +1 more	GBenign
Select item 472986	NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)	HARS1 (R375C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 540199	NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)	HARS1 (D371N +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 511179	NM_002109.6(HARS1):c.1054C>T (p.Leu352=)	HARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 451496	NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys)	HARS1 (E349K +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318810	NM_002109.6(HARS1):c.977G>A (p.Arg326Gln)	HARS1 (R212Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1190477	NM_002109.6(HARS1):c.976C>T (p.Arg326Ter)	HARS1 (R212* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 1318981	NM_002109.6(HARS1):c.952-3C>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 1281810	NM_002109.6(HARS1):c.952-23T>C	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167176	NM_002109.6(HARS1):c.951+19G>A	HARS1	Single nucleotide variant (intron variant)	Autosomal dominant Charcot-Marie-Tooth disease type 2W +2 more	GBenign
Select item 1680315	NM_002109.6(HARS1):c.951+5G>T	HARS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 705852	NM_002109.6(HARS1):c.903C>T (p.Asp301=)	HARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1949920	NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)	HARS1 (D266N +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315849	NM_002109.6(HARS1):c.824-13T>A	HARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 682517	NM_002109.6(HARS1):c.824-74T>G	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255158	NM_002109.6(HARS1):c.823+38A>G	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211349	NM_002109.6(HARS1):c.823+33G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 661311	NM_002109.6(HARS1):c.811G>A (p.Val271Ile)	HARS1 (V211I +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1698208	NM_002109.6(HARS1):c.771G>C (p.Lys257Asn)	HARS1 (K143N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993701	NM_002109.6(HARS1):c.730-17G>A	HARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1223871	NM_002109.6(HARS1):c.730-22T>C	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682776	NM_002109.6(HARS1):c.729+24C>T	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501592	NM_002109.6(HARS1):c.709T>G (p.Ser237Ala)	HARS1 (S123A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576600	NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)	HARS1 (S227A +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1097974	NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)	HARS1 (D104G +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1189641	NM_002109.6(HARS1):c.631-48C>G	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112786	NM_002109.6(HARS1):c.615C>T (p.Gly205=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B +1 more	GConflicting classifications of pathogenicity
Select item 226652	NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)	HARS1 (G205D +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +2 more	GBenign/Likely benign
Select item 226651	NM_002109.6(HARS1):c.588C>T (p.Cys196=)	HARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1219877	NM_002109.6(HARS1):c.581T>C (p.Ile194Thr)	HARS1 (I120T +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 850005	NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)	HARS1 (F108C +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1200391	NM_002109.6(HARS1):c.523-23G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235200	NM_002109.6(HARS1):c.523-238G>A	HARS1, LOC129994847	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187434	NM_002109.6(HARS1):c.522+93T>C	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574389	NM_002109.6(HARS1):c.521G>T (p.Cys174Phe)	HARS1 (C134F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019008	NM_002109.6(HARS1):c.494G>A (p.Arg165His)	HARS1 (R125H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1317408	NM_002109.6(HARS1):c.473G>A (p.Arg158Gln)	HARS1 (R118Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 40062	NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	HARS1 (R137Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Charcot-Marie-Tooth disease type 2W +4 more	GUncertain significance
Select item 1680349	NM_002109.6(HARS1):c.397-11T>G	HARS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1276992	NM_002109.6(HARS1):c.397-181G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 351240	NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)	HARS1 (R128C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1278349	NM_002109.6(HARS1):c.301-40T>C	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218817	NM_002109.6(HARS1):c.301-271del	HARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1187649	NM_002109.6(HARS1):c.300+296A>G	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168277	NM_002109.6(HARS1):c.300+138G>A	HARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1219032	NM_002109.6(HARS1):c.300+89G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 846902	NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)	HARS1 (L70R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1800919	NM_002109.6(HARS1):c.283C>T (p.Pro95Ser)	HARS1 (P66S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1163261	NM_002109.6(HARS1):c.257G>A (p.Arg86His)	HARS1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 508585	NM_002109.6(HARS1):c.234C>T (p.Asp78=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1803424	NM_002109.6(HARS1):c.207G>A (p.Gln69=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1680366	NM_002109.6(HARS1):c.205C>A (p.Gln69Lys)	HARS1 (Q40K +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 1704893	NM_002109.6(HARS1):c.192_198delinsACTG (p.Asp64_Ser66delinsGluLeu)	HARS1	Indel (inframe_indel +1 more)	Usher syndrome type 3B +1 more	GConflicting classifications of pathogenicity
Select item 1266775	NM_002109.6(HARS1):c.181-287T>C	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710556	NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)	HARS1 (T29I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2578279	NM_002109.6(HARS1):c.134T>C (p.Leu45Pro)	HARS1 (L16P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 351242	NM_002109.6(HARS1):c.103G>A (p.Val35Met)	HARS1 (V35M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +2 more	GConflicting classifications of pathogenicity
Select item 1272220	NM_002109.6(HARS1):c.90+81A>G	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504246	NM_002109.6(HARS1):c.90+4A>G	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1317154	NM_002109.6(HARS1):c.89T>G (p.Leu30Arg)	HARS1, LOC129994848 (L30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 540209	NM_002109.6(HARS1):c.72G>A (p.Gln24=)	HARS1, LOC129994848	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 704272	NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)	HARS1, LOC129994848 (Q14K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 472991	NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)	HARS1, LOC129994848 (A5E)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +2 more	GConflicting classifications of pathogenicity
Select item 351247	NM_002109.6(HARS1):c.-64C>T	HARS1, HARS2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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Items: 96