3035[geneid] - ClinVar - NCBI

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	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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ANKHD1, ANKHD1-DT +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 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 855414	NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)	HARS1 (C435F +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1680279	NM_002109.6(HARS1):c.1519T>G (p.Cys507Gly)	HARS1 (C393G +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
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 1799885	NM_002109.6(HARS1):c.1512G>T (p.Gln504His)	HARS1 (Q390H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1680280	NM_002109.6(HARS1):c.1510C>T (p.Gln504Ter)	HARS1 (Q390* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B	GUncertain significance
Select item 1680281	NM_002109.6(HARS1):c.1508G>T (p.Gly503Val)	HARS1 (G389V +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2810145	NM_002109.6(HARS1):c.1505_1506dup (p.Gly503fs)	HARS1 (G463fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 3B	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 1897353	NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)	HARS1 (R440K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2811598	NM_002109.6(HARS1):c.1495A>T (p.Lys499Ter)	HARS1 (K385* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B	GUncertain significance
Select item 1058174	NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)	HARS1 (I384V +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1680282	NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala)	HARS1 (E383A +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2852645	NM_002109.6(HARS1):c.1486G>C (p.Glu496Gln)	HARS1 (E476Q +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1039735	NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)	HARS1 (V435A +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2768554	NM_002109.6(HARS1):c.1479C>G (p.Asp493Glu)	HARS1 (D473E +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 757196	NM_002109.6(HARS1):c.1479C>T (p.Asp493=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 860522	NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)	HARS1 (R376Q +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 837043	NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)	HARS1 (R490* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 933369	NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)	HARS1 (D428N +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 540197	NM_002109.6(HARS1):c.1461G>A (p.Val487=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GUncertain significance
Select item 2811043	NM_002109.6(HARS1):c.1459G>A (p.Val487Met)	HARS1 (V373M +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2188495	NM_002109.6(HARS1):c.1459-17_1459-15del	HARS1	Microsatellite (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1959355	NM_002109.6(HARS1):c.1459-16C>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
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 1680283	NM_002109.6(HARS1):c.1458+17G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 981178	NM_002109.6(HARS1):c.1458+11T>C	HARS1	Single nucleotide variant (intron variant)	Pes cavus	GUncertain significance
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 3029189	NM_002109.6(HARS1):c.1458+3G>A	HARS1	Single nucleotide variant (intron variant)	HARS1-related condition	GLikely benign
Select item 2086303	NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys)	HARS1 (E371K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1680284	NM_002109.6(HARS1):c.1452G>A (p.Arg484=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 1680285	NM_002109.6(HARS1):c.1448G>A (p.Ser483Asn)	HARS1 (S369N +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1680286	NM_002109.6(HARS1):c.1447A>G (p.Ser483Gly)	HARS1 (S369G +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1130783	NM_002109.6(HARS1):c.1446G>A (p.Thr482=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
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 1047691	NM_002109.6(HARS1):c.1442T>C (p.Val481Ala)	HARS1 (V421A +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 654293	NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)	HARS1 (S420L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2190642	NM_002109.6(HARS1):c.1436G>A (p.Arg479His)	HARS1 (R439H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1680287	NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys)	HARS1 (R365C +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 540201	NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)	HARS1 (L478R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1680288	NM_002109.6(HARS1):c.1429A>G (p.Lys477Glu)	HARS1 (K363E +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
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 2021420	NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)	HARS1 (K443E +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 754680	NM_002109.6(HARS1):c.1410A>G (p.Glu470=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
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 3017024	NM_002109.6(HARS1):c.1406A>C (p.Gln469Pro)	HARS1 (Q429P +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	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 706610	NM_002109.6(HARS1):c.1398C>T (p.Ile466=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
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 856771	NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)	HARS1 (I391V +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 804288	NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	HARS1 (I351L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +14 more	GConflicting classifications of pathogenicity
Select item 1680289	NM_002109.6(HARS1):c.1387G>A (p.Val463Met)	HARS1 (V349M +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	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 652578	NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)	HARS1 (E383K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2023568	NM_002109.6(HARS1):c.1362C>T (p.Tyr454=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 29756	NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)	HARS1 (Y454S +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1680290	NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg)	HARS1 (Q339R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2199515	NM_002109.6(HARS1):c.1356A>G (p.Leu452=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 1111679	NM_002109.6(HARS1):c.1344A>G (p.Leu448=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 846422	NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)	HARS1 (K415del +6 more)	Microsatellite (inframe_deletion)	Usher syndrome type 3B	GLikely pathogenic
Select item 2613187	NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)	HARS1 (K329R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1145541	NM_002109.6(HARS1):c.1326C>T (p.Tyr442=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 1154671	NM_002109.6(HARS1):c.1323G>A (p.Leu441=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
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 1680291	NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA	HARS1	Insertion (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2090686	NM_002109.6(HARS1):c.1312-11G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1263929	NM_002109.6(HARS1):c.1312-75G>A	HARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2166635	NM_002109.6(HARS1):c.1311+19A>G	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2856680	NM_002109.6(HARS1):c.1311+10G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 3018111	NM_002109.6(HARS1):c.1311+8A>C	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 642927	NM_002109.6(HARS1):c.1311+4T>C	HARS1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2091631	NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)	HARS1 (S369L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2655741	NM_002109.6(HARS1):c.1275A>G (p.Leu425=)	HARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159387	NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)	HARS1 (R404K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
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 664641	NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del)	HARS1 (K305del +6 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2694976	NM_002109.6(HARS1):c.1256A>G (p.Lys419Arg)	HARS1 (K305R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1799816	NM_002109.6(HARS1):c.1256A>T (p.Lys419Met)	HARS1 (K305M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 851428	NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)	HARS1 (K305L +6 more)	Indel (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 1799815	NM_002109.6(HARS1):c.1255A>C (p.Lys419Gln)	HARS1 (K305Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 946055	NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)	HARS1 (Q303* +6 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 647434	NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)	HARS1 (Q350* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B	GUncertain significance
Select item 1680292	NM_002109.6(HARS1):c.1227A>C (p.Thr409=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2753314	NM_002109.6(HARS1):c.1225A>G (p.Thr409Ala)	HARS1 (T335A +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 472989	NM_002109.6(HARS1):c.1221G>A (p.Thr407=)	HARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1019258	NM_002109.6(HARS1):c.1220C>T (p.Thr407Met)	HARS1 (T293M +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 540205	NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)	HARS1 (T406N +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1800096	NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro)	HARS1 (R291P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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

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