MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:12557
Name:USHER SYNDROME, TYPE IIIB
Definition:
Alternative IDs:DO:DOID:0110842
ParentIDs:MESH:D052245
TreeNumbers:C09.218.458.341.186.500.500/614504 |C09.218.458.341.887.886/614504 |C10.597.751.418.341.186.500.500/614504 |C10.597.751.418.341.887.886/614504 |C10.597.751.941.162.625.500/614504 |C11.768.585.658.500.813/614504 |C11.966.075.375.500/614504 |C16.131.077.299.500/6
Synonyms:USH3B
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: 614504
MeSH: 614504
OMIM: 614504;
MSeqDR LSDB:  
Genes: HARS;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002194Delayed gross motor development
NAMDC:  Gross motor delay
3 HP:0000365Hearing impairment
4 HP:0000666Horizontal nystagmus
5 HP:0000543Optic disc pallor
6 HP:0000613Photophobia
7 HP:0002078Truncal ataxia
8 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000005.9:g.(?_140052489)_(140072312_?)del3035HARS1Uncertain significance-1RCV001338626; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140052489140072312-1-
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)3035HARS1Uncertain significance1255236125RCV001060681; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400538461400538465:g.140053846C>A-
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg)3035HARS1Uncertain significance150090766RCV001361381|RCV001776221|RCV002462955; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C09501235140053853140053853140053853-
NM_002109.6(HARS1):c.1519T>G (p.Cys507Gly)3035HARS1Uncertain significance150090766RCV002237419; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053853140053853140053853-
NM_002109.6(HARS1):c.1510C>T (p.Gln504Ter)3035HARS1Uncertain significance2149818394RCV002237420; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053862140053862140053862-
NM_002109.6(HARS1):c.1508G>T (p.Gly503Val)3035HARS1Uncertain significance781414119RCV002237421; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053864140053864140053864-
NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)3035HARS1Uncertain significance-1RCV002572037; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053873140053873NC_000005.9:g.140053873C>T-
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)3035HARS1Uncertain significance2149818483RCV001367272; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053880140053880140053880-
NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala)3035HARS1Uncertain significance1758219575RCV002237422; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053882140053882140053882-
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)3035HARS1Uncertain significance138377835RCV001343274; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053888140053888140053888-
NM_002109.6(HARS1):c.1479C>T (p.Asp493=)3035HARS1Likely benign1366581698RCV001471114; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400538931400538935:g.140053893G>A-
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)3035HARS1Uncertain significance1295541335RCV001066838; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400539031400539035:g.140053903C>T-
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)3035HARS1Uncertain significance373709175RCV001038296|RCV003160237; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400539041400539045:g.140053904G>A-
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)3035HARS1Uncertain significance771603866RCV001201568; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400539101400539105:g.140053910C>T-
NM_002109.6(HARS1):c.1461G>A (p.Val487=)3035HARS1Uncertain significance931036155RCV000650144; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400539111400539115:g.140053911C>TClinGen:CA128376537C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1459-17_1459-15del3035HARS1Likely benign-1RCV002620271; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053928140053930NC_000005.9:g.140053930AAG[1]-
NM_002109.6(HARS1):c.1459-16C>T3035HARS1Likely benign-1RCV002710216; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140053929140053929NC_000005.9:g.140053929G>A-
NM_002109.6(HARS1):c.1458+17G>A3035HARS1Likely benign1758248338RCV002237423; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054247140054247140054247-
NM_002109.6(HARS1):c.1458+7G>A3035HARS1Benign58302597RCV000221917|RCV000607948; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054257140054257NC_000005.9:g.140054257C>TClinGen:CA3443815CN169374 not specified;
NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys)3035HARS1Uncertain significance-1RCV003007420; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054269140054269NC_000005.9:g.140054269C>T-
NM_002109.6(HARS1):c.1452G>A (p.Arg484=)3035HARS1Likely benign149283940RCV002237424; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054270140054270140054270-
NM_002109.6(HARS1):c.1448G>A (p.Ser483Asn)3035HARS1Uncertain significance2149819348RCV002237425; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054274140054274140054274-
NM_002109.6(HARS1):c.1447A>G (p.Ser483Gly)3035HARS1Uncertain significance2149819356RCV002237426; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054275140054275140054275-
NM_002109.6(HARS1):c.1446G>A (p.Thr482=)3035HARS1Likely benign756452677RCV001464407; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054276140054276140054276-
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)3035HARS1Conflicting interpretations of pathogenicity147372931RCV000835736|RCV001086767|RCV001073307; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MON5140054277140054277NC_000005.9:g.140054277G>AClinGen:CA3443819C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)3035HARS1Conflicting interpretations of pathogenicity147372931RCV001410357|RCV001773744|RCV002462973; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C09501235140054277140054277140054277-
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala)3035HARS1Uncertain significance376596538RCV001352445; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054280140054280140054280-
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)3035HARS1Uncertain significance1581500046RCV000810222; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400542831400542835:g.140054283G>A-
NM_002109.6(HARS1):c.1436G>A (p.Arg479His)3035HARS1Uncertain significance-1RCV002616496|RCV003358110; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140054286140054286NC_000005.9:g.140054286C>T-
NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys)3035HARS1Uncertain significance768174431RCV002237427; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054287140054287140054287-
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)3035HARS1Uncertain significance1024985302RCV000650148; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400542891400542895:g.140054289A>CClinGen:CA128376638C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1429A>G (p.Lys477Glu)3035HARS1Uncertain significance2149819440RCV002237428; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054293140054293140054293-
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)3035HARS1Uncertain significance971012132RCV001061946|RCV001355745; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400543021400543025:g.140054302C>T-
NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)3035HARS1Uncertain significance-1RCV002862640; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054308140054308NC_000005.9:g.140054308T>C-
NM_002109.6(HARS1):c.1410A>G (p.Glu470=)3035HARS1Likely benign764911936RCV002235642; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400543121400543125:g.140054312T>C-
NM_002109.6(HARS1):c.1407G>C (p.Gln469His)3035HARS1Uncertain significance1405966952RCV001324364|RCV002462933|RCV003322879; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C0950123|MedGen:CN5172025140054315140054315140054315-
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)3035HARS1Conflicting interpretations of pathogenicity199615869RCV000650149|RCV000998447|RCV002461962; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C095012351400543201400543205:g.140054320C>TClinGen:CA3443829C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1399G>A (p.Gly467Ser)3035HARS1Uncertain significance372237777RCV000488199|RCV002230963; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400543231400543235:g.140054323C>TClinGen:CA16621825CN517202 not provided;
NM_002109.6(HARS1):c.1398C>T (p.Ile466=)3035HARS1Likely benign766088180RCV001417892; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400543241400543245:g.140054324G>A-
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)3035HARS1Conflicting interpretations of pathogenicity754304255RCV001007622|RCV001246783|RCV001644878|RCV001814247; N11 conditions|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600, Orphanet:316226|Human Phenotype Ontology:HP:0003157,Human Phenotype Ontology:HP:0003407,Human Phenotype O51400543291400543295:g.140054329T>G-
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)3035HARS1Uncertain significance754304255RCV001062306; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400543291400543295:g.140054329T>C-
NM_002109.6(HARS1):c.1387G>A (p.Val463Met)3035HARS1Uncertain significance139699964RCV002237429; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054335140054335140054335-
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)3035HARS1Conflicting interpretations of pathogenicity891844407RCV000701574|RCV000825171|RCV001775975; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|MedGen:C36619005140054350140054350NC_000005.9:g.140054350C>T-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)3035HARS1Uncertain significance1204851184RCV000808157; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400543531400543535:g.140054353C>T-
NM_002109.6(HARS1):c.1362C>T (p.Tyr454=)3035HARS1Likely benign-1RCV002858047; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054360140054360-
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)3035HARS1Conflicting interpretations of pathogenicity387906639RCV000022619|RCV000608744|RCV000623702; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|MeSH:D030342,MedGen:C095012351400543611400543615:g.140054361T>GClinGen:CA277969,UniProtKB:P12081#VAR_067918,OMIM:142810.0001C0950123 Inborn genetic diseases;
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg)3035HARS1Uncertain significance2149819642RCV002236490; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054364140054364140054364-
NM_002109.6(HARS1):c.1356A>G (p.Leu452=)3035HARS1Likely benign-1RCV002624959; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054366140054366-
NM_002109.6(HARS1):c.1344A>G (p.Leu448=)3035HARS1Likely benign1758261367RCV001438349; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054378140054378140054378-
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)3035HARS1Uncertain significance756193571RCV001049721; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400543881400543905:g.140054388_140054390del-
NM_002109.6(HARS1):c.1326C>T (p.Tyr442=)3035HARS1Likely benign2149819731RCV001484442; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054396140054396140054396-
NM_002109.6(HARS1):c.1323G>A (p.Leu441=)3035HARS1Likely benign1411849883RCV001496780; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054399140054399140054399-
NM_002109.6(HARS1):c.1312-8C>T3035HARS1Likely benign772505507RCV000220628|RCV000650158|RCV001582727; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140054418140054418NC_000005.9:g.140054418G>AClinGen:CA3443842CN169374 not specified;
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA3035HARS1Uncertain significance2149819821RCV002236491; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054419140054420140054419-
NM_002109.6(HARS1):c.1312-11G>A3035HARS1Likely benign-1RCV003005915; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054421140054421NC_000005.9:g.140054421C>T-
NM_002109.6(HARS1):c.1311+19A>G3035HARS1Likely benign-1RCV003080185; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054583140054583NC_000005.9:g.140054583T>C-
NM_002109.6(HARS1):c.1311+4T>C3035HARS1Uncertain significance958234389RCV000796482|RCV003323724; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN16937451400545981400545985:g.140054598A>G-
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)3035HARS1Uncertain significance-1RCV002991661; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054627140054627NC_000005.9:g.140054627G>A-
NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)3035HARS1Uncertain significance-1RCV003085936; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054642140054642NC_000005.9:g.140054642C>T-
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)3035HARS1Benign/Likely benign34790864RCV000650156|RCV000825071|RCV001592815; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|MedGen:C36619005140054652140054652NC_000005.9:g.140054652G>CClinGen:CA3443863C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del)3035HARS1Uncertain significance779289896RCV000822775|RCV002462189; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400546561400546585:g.140054656_140054658del-
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)3035HARS1Uncertain significance1758283199RCV001055820; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054657140054658NC_000005.9:g.140054657_140054658delinsAG-
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)3035HARS1Uncertain significance866572603RCV001216839|RCV002462836; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400546641400546645:g.140054664G>A-
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)3035HARS1Uncertain significance201011416RCV000801945; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400546851400546855:g.140054685G>A-
NM_002109.6(HARS1):c.1227A>C (p.Thr409=)3035HARS1Likely benign771913914RCV002236492; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054686140054686140054686-
NM_002109.6(HARS1):c.1221G>A (p.Thr407=)3035HARS1Likely benign150274370RCV000537493|RCV002461315; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140054692140054692NC_000005.9:g.140054692C>TClinGen:CA3443872C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met)3035HARS1Uncertain significance760726168RCV001318675; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054693140054693140054693-
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)3035HARS1Uncertain significance369070016RCV000650152|RCV001508174|RCV002461963; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C095012351400546961400546965:g.140054696G>TClinGen:CA3443875C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)3035HARS1Uncertain significance147185134RCV001219683|RCV002285459; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400546991400546995:g.140054699C>T-
NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro)3035HARS1Uncertain significance-1RCV002460744|RCV003103083; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054699140054699NC_000005.9:g.140054699C>G-
NM_002109.6(HARS1):c.1213C>A (p.Arg405=)3035HARS1Likely benign908109064RCV000888891; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400547001400547005:g.140054700G>T-
NM_002109.6(HARS1):c.1213C>T (p.Arg405Trp)3035HARS1Uncertain significance908109064RCV002236493|RCV002463124; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140054700140054700140054700-
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)3035HARS1Conflicting interpretations of pathogenicity552434037RCV001217845|RCV002562979|RCV003127693; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C0950123|MedGen:CN51720251400547121400547125:g.140054712C>G-
NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys)3035HARS1Likely benign552434037RCV001476429; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054712140054712140054712-
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe)3035HARS1Uncertain significance1758288242RCV001205664|RCV003163559; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400547131400547135:g.140054713C>A-
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)3035HARS1Benign34732372RCV000825070|RCV000559035|RCV001567640; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140054717140054717NC_000005.9:g.140054717G>AClinGen:CA3443882C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser)3035HARS1Uncertain significance-1RCV002909705; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054718140054718NC_000005.9:g.140054718C>A-
NM_002109.6(HARS1):c.1195-1G>A3035HARS1Uncertain significance1758289022RCV002237430; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054719140054719140054719-
NM_002109.6(HARS1):c.1195-9_1195-8delinsTA3035HARS1Uncertain significance-1RCV003021859; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054726140054727NC_000005.9:g.140054726_140054727delinsTA-
NM_002109.6(HARS1):c.1195-14T>A3035HARS1Uncertain significance-1RCV002843844; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054732140054732NC_000005.9:g.140054732A>T-
NM_002109.6(HARS1):c.1195-18T>C3035HARS1Likely benign777231572RCV002237431; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140054736140054736140054736-
NC_000005.10:g.(?_140676634)_(140678035_?)del3035HARS1Uncertain significance-1RCV000708163; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056219140057620-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1194+20T>C3035HARS1Likely benign750746864RCV001415712; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056219140056219140056219-
NM_002109.6(HARS1):c.1194+18G>A3035HARS1Likely benign988352231RCV002237432; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056221140056221140056221-
NM_002109.6(HARS1):c.1194+15G>T3035HARS1Likely benign766705218RCV002237433; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056224140056224140056224-
NM_002109.6(HARS1):c.1194+13A>G3035HARS1Likely benign201733468RCV002237434; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056226140056226140056226-
NM_002109.6(HARS1):c.1194+4G>A3035HARS1Uncertain significance370189312RCV000685778; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400562351400562355:g.140056235C>T-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly)3035HARS1Uncertain significance2149822607RCV002237435; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056247140056247140056247-
NM_002109.6(HARS1):c.1185G>C (p.Gln395His)3035HARS1Uncertain significance546882914RCV002237436; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056248140056248140056248-
NM_002109.6(HARS1):c.1177G>A (p.Val393Met)3035HARS1Conflicting interpretations of pathogenicity192923161RCV000825348|RCV001344025|RCV002462191; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400562561400562565:g.140056256C>T-
NM_002109.6(HARS1):c.1176C>T (p.Ile392=)3035HARS1Likely benign373400844RCV001474674; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056257140056257140056257-
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp)3035HARS1Uncertain significance761949872RCV001339624; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056271140056271140056271-
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)3035HARS1Uncertain significance1581503971RCV000797653; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400562731400562735:g.140056273T>C-
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)3035HARS1Uncertain significance1758380241RCV001351385|RCV002282526; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140056274140056274140056274-
NM_002109.6(HARS1):c.1158G>T (p.Val386=)3035HARS1Likely benign2149822667RCV002237437; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056275140056275140056275-
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)3035HARS1Uncertain significance1758381320RCV001039688; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400562821400562825:g.140056282A>T-
NM_002109.6(HARS1):c.1150A>G (p.Ile384Val)3035HARS1Uncertain significance-1RCV002609672; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056283140056283NC_000005.9:g.140056283T>C-
NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe)3035HARS1Uncertain significance-1RCV002730538; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056283140056283NC_000005.9:g.140056283T>A-
NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr)3035HARS1Uncertain significance1758384765RCV002237438|RCV003134400; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140056297140056297140056297-
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)3035HARS1Uncertain significance377410852RCV000699182|RCV002462040; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400563001400563005:g.140056300G>A-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1131del (p.Pro378fs)3035HARS1Uncertain significance2149822729RCV002237439; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056302140056302140056301-
NM_002109.6(HARS1):c.1129G>T (p.Val377Leu)3035HARS1Uncertain significance1236403537RCV002237440|RCV002463125; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140056304140056304140056304-
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)3035HARS1Benign139447495RCV000844310|RCV001079234; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056306140056306NC_000005.9:g.140056306T>CClinGen:CA3443917C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1124G>A (p.Arg375His)3035HARS1Likely benign151258227RCV000983870|RCV002462241; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400563091400563095:g.140056309C>T-
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)3035HARS1Uncertain significance774682373RCV000534421|RCV001535484|RCV001824342|RCV003159906; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333; MONDO:MONDO:0016485,MedGen:C1568248, Orphanet:231183; MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN517202|MeSH:D030342,MedGen:C095051400563101400563105:g.140056310G>AClinGen:CA3443919C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg)3035HARS1Uncertain significance-1RCV002852671; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056315140056315NC_000005.9:g.140056315T>C-
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)3035HARS1Uncertain significance753104645RCV000650146|RCV001796168; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN5172025140056322140056322NC_000005.9:g.140056322C>TClinGen:CA128377406C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1110C>T (p.Phe370=)3035HARS1Likely benign761267344RCV000650155|RCV001171966|RCV002461965; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C095012351400563231400563235:g.140056323G>AClinGen:CA3443923C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1106T>C (p.Met369Thr)3035HARS1Uncertain significance764631385RCV002236494; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056327140056327140056327-
NM_002109.6(HARS1):c.1105A>G (p.Met369Val)3035HARS1Conflicting interpretations of pathogenicity749991162RCV002236495|RCV003093907; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140056328140056328140056328-
NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg)3035HARS1Uncertain significance-1RCV002952880; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056340140056340NC_000005.9:g.140056340C>T-
NM_002109.6(HARS1):c.1092T>C (p.Asp364=)3035HARS1Likely benign758121959RCV002236496; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056341140056341140056341-
NM_002109.6(HARS1):c.1088A>G (p.Tyr363Cys)3035HARS1Uncertain significance1402131324RCV002236497; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056345140056345140056345-
NM_002109.6(HARS1):c.1086C>T (p.Arg362=)3035HARS1Likely benign139251223RCV001500774; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056347140056347140056347-
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)3035HARS1Uncertain significance751272874RCV000799320; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400563491400563495:g.140056349G>A-
NM_002109.6(HARS1):c.1076C>A (p.Ala359Asp)3035HARS1Uncertain significance1313670595RCV002236498; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056357140056357140056357-
NM_002109.6(HARS1):c.1075G>T (p.Ala359Ser)3035HARS1Uncertain significance1562005042RCV002237441; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056358140056358140056358-
NM_002109.6(HARS1):c.1069G>A (p.Val357Met)3035HARS1Uncertain significance1210579780RCV001344926; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056364140056364140056364-
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)3035HARS1Uncertain significance144322728RCV000515536|RCV000650140|RCV002461269; NMONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400563661400563665:g.140056366C>TClinGen:CA3443931C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)3035HARS1Uncertain significance-1RCV002943577; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056375140056375NC_000005.9:g.140056375C>G-
NM_002109.6(HARS1):c.1056G>A (p.Leu352=)3035HARS1Likely benign1758394745RCV002237442; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056377140056377140056377-
NM_002109.6(HARS1):c.1055T>G (p.Leu352Arg)3035HARS1Uncertain significance-1RCV002894516; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056378140056378NC_000005.9:g.140056378A>C-
NM_002109.6(HARS1):c.1053C>G (p.Pro351=)3035HARS1Likely benign1435212159RCV000650154|RCV002461964; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400563801400563805:g.140056380G>CClinGen:CA446804093C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu)3035HARS1Uncertain significance1758395666RCV001347407; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056381140056381140056381-
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys)3035HARS1Uncertain significance1371763515RCV000519456|RCV001240270; NMedGen:CN517202|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400563881400563885:g.140056388C>TClinGen:CA361251547CN169374 not specified;
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln)3035HARS1Uncertain significance146571500RCV001362470; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056402140056402140056402-
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)3035HARS1Uncertain significance1562005331RCV000707325; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400564051400564055:g.140056405G>A-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)3035HARS1Uncertain significance1370029240RCV000650141; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400564241400564245:g.140056424C>AClinGen:CA361251751C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)3035HARS1Uncertain significance1370029240RCV001055667; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400564241400564245:g.140056424C>T-
NM_002109.6(HARS1):c.1007A>G (p.Tyr336Cys)3035HARS1Uncertain significance2149823058RCV002237443; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056426140056426140056426-
NM_002109.6(HARS1):c.1000G>A (p.Val334Met)3035HARS1Uncertain significance1554106875RCV000650147; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056433140056433NC_000005.9:g.140056433C>TClinGen:CA361251849C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)3035HARS1Uncertain significance-1RCV002928386; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056439140056439NC_000005.9:g.140056439T>C-
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys)3035HARS1Uncertain significance1554106881RCV000515533|RCV002527442; NMONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056444140056444NC_000005.9:g.140056444T>CClinGen:CA361251948C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.981G>T (p.Gly327=)3035HARS1Likely benign1758401892RCV001232278; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400564521400564525:g.140056452C>A-
NM_002109.6(HARS1):c.976C>A (p.Arg326=)3035HARS1Likely benign1248042019RCV001481990; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056457140056457140056457-
NM_002109.6(HARS1):c.976C>T (p.Arg326Ter)3035HARS1Uncertain significance1248042019RCV001551220|RCV002568330; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056457140056457140056457-
NM_002109.6(HARS1):c.965del (p.Leu322fs)3035HARS1Uncertain significance774824253RCV002237444; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056468140056468140056467-
NM_002109.6(HARS1):c.963C>T (p.Asp321=)3035HARS1Likely benign1267161123RCV001410620; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056470140056470140056470-
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe)3035HARS1Uncertain significance910919096RCV001309127; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056477140056477140056477-
NM_002109.6(HARS1):c.954C>T (p.Ile318=)3035HARS1Likely benign1758406223RCV002237445; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056479140056479140056479-
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)3035HARS1Uncertain significance-1RCV002701229; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056481140056481NC_000005.9:g.140056481T>A-
NM_002109.6(HARS1):c.952-3C>A3035HARS1Uncertain significance373032755RCV001755629|RCV002241579; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056484140056484140056484-
NM_002109.6(HARS1):c.952-4A>G3035HARS1Likely benign780815128RCV001492172; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056485140056485140056485-
NM_002109.6(HARS1):c.952-6C>T3035HARS1Likely benign-1RCV003059050; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056487140056487NC_000005.9:g.140056487G>A-
NM_002109.6(HARS1):c.951+19G>A3035HARS1Benign73271581RCV001516158|RCV001685390|RCV002506613; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333; MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056555140056555140056555-
NM_002109.6(HARS1):c.951+18C>T3035HARS1Likely benign775714094RCV001434037; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056556140056556140056556-
NM_002109.6(HARS1):c.951+12T>C3035HARS1Likely benign-1RCV002631184; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056562140056562NC_000005.9:g.140056562A>G-
NM_002109.6(HARS1):c.951+8A>C3035HARS1Likely benign761161172RCV001453920; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056566140056566140056566-
NM_002109.6(HARS1):c.951+5G>T3035HARS1Uncertain significance1473283139RCV002237446|RCV003227065; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140056569140056569140056569-
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)3035HARS1Uncertain significance-1RCV002766124; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056581140056582NC_000005.9:g.140056581_140056582delinsAA-
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)3035HARS1Uncertain significance777214329RCV001339862; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056584140056584140056584-
NM_002109.6(HARS1):c.933A>G (p.Leu311=)3035HARS1Likely benign762443953RCV002237447; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056592140056592140056592-
NM_002109.6(HARS1):c.924C>T (p.Tyr308=)3035HARS1Likely benign2149823372RCV001470364; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056601140056601140056601-
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)3035HARS1Uncertain significance794727969RCV000180581|RCV000810871|RCV003278681; NMedGen:CN517202|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140056603140056614NC_000005.9:g.140056606_140056617delClinGen:CA248073CN169374 not specified;
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)3035HARS1Uncertain significance-1RCV002725264; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056612140056612NC_000005.9:g.140056612G>A-
NM_002109.6(HARS1):c.903C>T (p.Asp301=)3035HARS1Benign/Likely benign146835587RCV000876280|RCV001539863; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400566221400566225:g.140056622G>A-
NM_002109.6(HARS1):c.903C>A (p.Asp301Glu)3035HARS1Uncertain significance-1RCV002843353; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056622140056622NC_000005.9:g.140056622G>T-
NM_002109.6(HARS1):c.897G>C (p.Leu299=)3035HARS1Likely benign2149823428RCV001452001; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056628140056628140056628-
NM_002109.6(HARS1):c.885C>T (p.Ala295=)3035HARS1Likely benign2149823444RCV001446870; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056640140056640140056640-
NM_002109.6(HARS1):c.885C>G (p.Ala295=)3035HARS1Likely benign-1RCV002857543; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056640140056640-
NM_002109.6(HARS1):c.882G>A (p.Gln294=)3035HARS1Likely benign1758417684RCV001500427; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056643140056643140056643-
NM_002109.6(HARS1):c.881A>C (p.Gln294Pro)3035HARS1Uncertain significance1758417980RCV002237448; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056644140056644140056644-
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu)3035HARS1Uncertain significance1379178692RCV001217650; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400566451400566455:g.140056645G>C-
NM_002109.6(HARS1):c.880C>A (p.Gln294Lys)3035HARS1Uncertain significance-1RCV002756710; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056645140056645NC_000005.9:g.140056645G>T-
NM_002109.6(HARS1):c.869C>G (p.Ser290Cys)3035HARS1Uncertain significance-1RCV003011570; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056656140056656NC_000005.9:g.140056656G>C-
NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)3035HARS1Uncertain significance-1RCV003052461; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056663140056663NC_000005.9:g.140056663T>C-
NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)3035HARS1Uncertain significance-1RCV002671316|RCV003443069; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140056669140056669NC_000005.9:g.140056669C>T-
NM_002109.6(HARS1):c.855G>A (p.Gln285=)3035HARS1Likely benign1343896862RCV002237449; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056670140056670140056670-
NM_002109.6(HARS1):c.852C>T (p.Leu284=)3035HARS1Likely benign202034204RCV001419344; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056673140056673140056673-
NM_002109.6(HARS1):c.840G>A (p.Val280=)3035HARS1Uncertain significance1275864095RCV002237450; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056685140056685140056685-
NM_002109.6(HARS1):c.836T>A (p.Leu279Gln)3035HARS1Uncertain significance-1RCV002634687; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056689140056689NC_000005.9:g.140056689A>T-
NM_002109.6(HARS1):c.829G>A (p.Val277Ile)3035HARS1Uncertain significance763899763RCV001316156; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056696140056696140056696-
NM_002109.6(HARS1):c.827G>T (p.Gly276Val)3035HARS1Uncertain significance-1RCV002862568; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056698140056698NC_000005.9:g.140056698C>A-
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg)3035HARS1Uncertain significance2149823561RCV001365815; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056699140056699140056699-
NM_002109.6(HARS1):c.824-1G>A3035HARS1Uncertain significance-1RCV003027404; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056702140056702NC_000005.9:g.140056702C>T-
NM_002109.6(HARS1):c.824-3C>T3035HARS1Uncertain significance-1RCV002947339; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056704140056704NC_000005.9:g.140056704G>A-
NM_002109.6(HARS1):c.824-17del3035HARS1Likely benign-1RCV002922834; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056718140056718NC_000005.9:g.140056718del-
NM_002109.6(HARS1):c.823+6G>C3035HARS1Uncertain significance1758439013RCV001345535; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056906140056906140056906-
NM_002109.6(HARS1):c.819A>G (p.Gln273=)3035HARS1Likely benign372436915RCV002237451; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056916140056916140056916-
NM_002109.6(HARS1):c.811G>A (p.Val271Ile)3035HARS1Uncertain significance149018062RCV000818700|RCV002473151; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400569241400569245:g.140056924C>T-
NM_002109.6(HARS1):c.802G>C (p.Gly268Arg)3035HARS1Uncertain significance2149823964RCV002236499; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056933140056933140056933-
NM_002109.6(HARS1):c.801T>G (p.Ile267Met)3035HARS1Uncertain significance-1RCV003098945; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056934140056934NC_000005.9:g.140056934A>C-
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr)3035HARS1Uncertain significance766324898RCV002236500|RCV002463126|RCV003328490; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C0950123|MedGen:C36619005140056935140056935140056935-
NM_002109.6(HARS1):c.797G>A (p.Arg266His)3035HARS1Uncertain significance765223763RCV000757351|RCV001047038|RCV002462121|RCV003323711; NMedGen:CN517202|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C0950123|MedGen:CN1693745140056938140056938NC_000005.9:g.140056938C>T-
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)3035HARS1Uncertain significance765223763RCV001064198; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400569381400569385:g.140056938C>A-
NM_002109.6(HARS1):c.796C>T (p.Arg266Cys)3035HARS1Uncertain significance575673293RCV002236501; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056939140056939140056939-
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu)3035HARS1Uncertain significance1050247RCV001246029; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400569401400569405:g.140056940G>C-
NM_002109.6(HARS1):c.789G>A (p.Val263=)3035HARS1Likely benign780017796RCV001476612; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056946140056946140056946-
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys)3035HARS1Uncertain significance1758442472RCV001300553; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056951140056951140056951-
NM_002109.6(HARS1):c.783T>G (p.Pro261=)3035HARS1Likely benign-1RCV002976720; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056952140056952-
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)3035HARS1Uncertain significance1319398620RCV000690481; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400569531400569535:g.140056953G>C-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.774C>T (p.Gly258=)3035HARS1Likely benign-1RCV003054057; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056961140056961-
NM_002109.6(HARS1):c.771G>A (p.Lys257=)3035HARS1Likely benign1758443206RCV002236502; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056964140056964140056964-
NM_002109.6(HARS1):c.762G>A (p.Val254=)3035HARS1Likely benign-1RCV002972653; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056973140056973-
NM_002109.6(HARS1):c.753T>C (p.Asn251=)3035HARS1Likely benign-1RCV002640535; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056982140056982-
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr)3035HARS1Uncertain significance748594458RCV001337580; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056983140056983140056983-
NM_002109.6(HARS1):c.749A>G (p.Lys250Arg)3035HARS1Uncertain significance1758445064RCV002237452; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140056986140056986140056986-
NM_002109.6(HARS1):c.730G>A (p.Val244Met)3035HARS1Uncertain significance-1RCV002966326; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057005140057005NC_000005.9:g.140057005C>T-
NM_002109.6(HARS1):c.730-10G>C3035HARS1Likely benign1581505929RCV001506723; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400570151400570155:g.140057015C>G-
NM_002109.6(HARS1):c.730-10G>A3035HARS1Likely benign-1RCV002647144; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057015140057015NC_000005.9:g.140057015C>T-
NM_002109.6(HARS1):c.730-12C>G3035HARS1Likely benign2149824191RCV002237453; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057017140057017140057017-
NM_002109.6(HARS1):c.730-17G>A3035HARS1Benign/Likely benign189624055RCV001520297|RCV001586107; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140057022140057022140057022-
NM_002109.6(HARS1):c.730-20A>G3035HARS1Uncertain significance-1RCV003040774; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057025140057025NC_000005.9:g.140057025T>C-
NM_002109.6(HARS1):c.729+20A>G3035HARS1Likely benign-1RCV002690823; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057220140057220NC_000005.9:g.140057220T>C-
NM_002109.6(HARS1):c.729+16C>T3035HARS1Likely benign-1RCV003072945; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057224140057224NC_000005.9:g.140057224G>A-
NM_002109.6(HARS1):c.729+12A>G3035HARS1Uncertain significance756500012RCV002237454; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057228140057228140057228-
NM_002109.6(HARS1):c.729+3A>G3035HARS1Uncertain significance938453967RCV000530096; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057237140057237NC_000005.9:g.140057237T>CClinGen:CA128377465C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg)3035HARS1Uncertain significance1053173778RCV001308580; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057241140057241140057241-
NM_002109.6(HARS1):c.726C>T (p.Asp242=)3035HARS1Likely benign1131035RCV001505799; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057243140057243140057243-
NM_002109.6(HARS1):c.723G>A (p.Leu241=)3035HARS1Likely benign1131036RCV001434364; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057246140057246140057246-
NM_002109.6(HARS1):c.721C>T (p.Leu241=)3035HARS1Benign-1RCV002914686; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057248140057248-
NM_002109.6(HARS1):c.713T>C (p.Val238Ala)3035HARS1Uncertain significance536175170RCV001319519; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057256140057256140057256-
NM_002109.6(HARS1):c.695G>A (p.Arg232His)3035HARS1Uncertain significance550778711RCV001071624; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400572741400572745:g.140057274C>T-
NM_002109.6(HARS1):c.695G>T (p.Arg232Leu)3035HARS1Uncertain significance-1RCV002663106; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057274140057274NC_000005.9:g.140057274C>A-
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)3035HARS1Conflicting interpretations of pathogenicity186526524RCV000179843|RCV000556160|RCV002460958; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400572751400572755:g.140057275G>AClinGen:CA247145CN169374 not specified;
NM_002109.6(HARS1):c.690G>A (p.Lys230=)3035HARS1Likely benign768157379RCV002237455; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057279140057279140057279-
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg)3035HARS1Uncertain significance1416014791RCV001320386; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057280140057280140057280-
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)3035HARS1Conflicting interpretations of pathogenicity768076848RCV000699134|RCV001000572|RCV001756220|RCV002462039; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C095012351400572901400572905:g.140057290A>C-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)3035HARS1Uncertain significance1758468780RCV001072019; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400572921400572925:g.140057292A>T-
NM_002109.6(HARS1):c.672_673del (p.Cys224fs)3035HARS1Uncertain significance1758469143RCV001205399; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400572961400572975:g.140057296_140057297del-
NM_002109.6(HARS1):c.669C>T (p.Ile223=)3035HARS1Likely benign761474865RCV001419532; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057300140057300140057300-
NM_002109.6(HARS1):c.664G>A (p.Ala222Thr)3035HARS1Uncertain significance-1RCV002814829; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057305140057305NC_000005.9:g.140057305C>T-
NM_002109.6(HARS1):c.662T>C (p.Phe221Ser)3035HARS1Uncertain significance2149824713RCV002237456; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057307140057307140057307-
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)3035HARS1Uncertain significance769535360RCV001049861; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400573141400573145:g.140057314C>T-
NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)3035HARS1Conflicting interpretations of pathogenicity374172904RCV001419746|RCV002225837; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140057316140057316140057316-
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)3035HARS1Uncertain significance762921085RCV001304061; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057319140057319140057319-
NM_002109.6(HARS1):c.640C>T (p.Arg214Ter)3035HARS1Uncertain significance-1RCV002653685; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057329140057329NC_000005.9:g.140057329G>A-
NM_002109.6(HARS1):c.640C>A (p.Arg214=)3035HARS1Likely benign-1RCV002770378; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057329140057329-
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)3035HARS1Uncertain significance1562008284RCV000791804; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400573301400573305:g.140057330A>C-
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn)3035HARS1Uncertain significance759634200RCV001348276; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057332140057332140057332-
NM_002109.6(HARS1):c.631-3C>T3035HARS1Uncertain significance533067917RCV002237457; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057341140057341140057341-
NM_002109.6(HARS1):c.631-8C>T3035HARS1Likely benign551153305RCV002237458; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057346140057346140057346-
NM_002109.6(HARS1):c.631-9T>G3035HARS1Likely benign2149824827RCV002237459; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057347140057347140057347-
NM_002109.6(HARS1):c.631-13T>C3035HARS1Likely benign754213668RCV002237460; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057351140057351140057351-
NM_002109.6(HARS1):c.631-18T>G3035HARS1Likely benign-1RCV002972521; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057356140057356NC_000005.9:g.140057356A>C-
NM_002109.6(HARS1):c.631-19A>G3035HARS1Likely benign779220042RCV002237461; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057357140057357140057357-
NM_002109.6(HARS1):c.630+12C>T3035HARS1Likely benign760967356RCV001497097; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057481140057481140057481-
NM_002109.6(HARS1):c.630+8C>G3035HARS1Uncertain significance1021221934RCV001364137; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057485140057485140057485-
NM_002109.6(HARS1):c.630+7G>A3035HARS1Likely benign-1RCV003056220; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057486140057486NC_000005.9:g.140057486C>T-
NM_002109.6(HARS1):c.630+6A>G3035HARS1Uncertain significance-1RCV003062786; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057487140057487NC_000005.9:g.140057487T>C-
NM_002109.6(HARS1):c.627C>T (p.Val209=)3035HARS1Likely benign960026937RCV002237462; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057496140057496140057496-
NM_002109.6(HARS1):c.622C>T (p.Leu208=)3035HARS1Likely benign754094386RCV000922567; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400575011400575015:g.140057501G>A-
NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)3035HARS1Uncertain significance-1RCV002620304|RCV002620303; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057507140057507NC_000005.9:g.140057507C>T-
NM_002109.6(HARS1):c.615C>T (p.Gly205=)3035HARS1Conflicting interpretations of pathogenicity371470801RCV001439913|RCV001581131; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140057508140057508140057508-
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)3035HARS1Benign/Likely benign147288996RCV000217228|RCV000541318|RCV001636728; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140057509140057509NC_000005.9:g.140057509C>TClinGen:CA3444059,UniProtKB:P12081#VAR_069023CN169374 not specified;
NM_002109.6(HARS1):c.612A>G (p.Ile204Met)3035HARS1Uncertain significance1562008815RCV000699267|RCV002462042; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400575111400575115:g.140057511T>C-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.611T>C (p.Ile204Thr)3035HARS1Uncertain significance-1RCV003010258; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057512140057512NC_000005.9:g.140057512A>G-
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter)3035HARS1Uncertain significance780654800RCV001364152; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057521140057521NC_000005.9:g.140057521G>C-
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys)3035HARS1Uncertain significance747711899RCV001232549; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400575341400575345:g.140057534C>T-
NM_002109.6(HARS1):c.588C>T (p.Cys196=)3035HARS1Benign2230361RCV000214979|RCV001518405; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057535140057535NC_000005.9:g.140057535G>AClinGen:CA3444063CN169374 not specified;
NM_002109.6(HARS1):c.585G>C (p.Met195Ile)3035HARS1Uncertain significance777238077RCV002237463; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057538140057538140057538-
NM_002109.6(HARS1):c.584T>C (p.Met195Thr)3035HARS1Uncertain significance2149825219RCV002237464; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057539140057539140057539-
NM_002109.6(HARS1):c.581T>C (p.Ile194Thr)3035HARS1Uncertain significance1758488093RCV001590552|RCV002241381; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057542140057542140057542-
NM_002109.6(HARS1):c.562G>C (p.Asp188His)3035HARS1Uncertain significance1758489449RCV001322032; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057561140057561140057561-
NM_002109.6(HARS1):c.561T>C (p.Pro187=)3035HARS1Likely benign2149825285RCV001500861; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057562140057562140057562-
NM_002109.6(HARS1):c.553A>G (p.Met185Val)3035HARS1Uncertain significance-1RCV002606448; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057570140057570NC_000005.9:g.140057570T>C-
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)3035HARS1Uncertain significance-1RCV002838418; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057570140057570NC_000005.9:g.140057570T>A-
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)3035HARS1Uncertain significance1758491184RCV001054085|RCV001552239; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400575781400575785:g.140057578A>C-
NM_002109.6(HARS1):c.532A>G (p.Ile178Val)3035HARS1Uncertain significance774329929RCV001362617; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057591140057591140057591-
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)3035HARS1Uncertain significance745780898RCV000650151; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057596140057596NC_000005.9:g.140057596A>TClinGen:CA361256003C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.523-4G>A3035HARS1Likely benign-1RCV003034079; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057604140057604NC_000005.9:g.140057604C>T-
NM_002109.6(HARS1):c.523-18C>T3035HARS1Likely benign-1RCV002746635; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140057618140057618NC_000005.9:g.140057618G>A-
NC_000005.9:g.(?_140058567)_(140062824_?)dup3035HARS1Uncertain significance-1RCV002237383; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058567140062824-1-
NM_002109.6(HARS1):c.522+18G>A3035HARS1Likely benign-1RCV003052612; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058569140058569NC_000005.9:g.140058569C>T-
NM_002109.6(HARS1):c.522+17C>T3035HARS1Likely benign201107108RCV002236504; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058570140058570140058570-
NM_002109.6(HARS1):c.522+8T>C3035HARS1Likely benign1408058796RCV001505551; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058579140058579140058579-
NM_002109.6(HARS1):c.522+1G>A3035HARS1Uncertain significance375271566RCV002236505; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058586140058586140058586-
NC_000005.10:g.(?_140679002)_(140683219_?)dup3035HARS1Uncertain significance-1RCV001031985; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058587140062804-1-
NM_002109.6(HARS1):c.519G>A (p.Gln173=)3035HARS1Likely benign1131045RCV001418709; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058590140058590140058590-
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)3035HARS1Uncertain significance-1RCV003010413; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058594140058594NC_000005.9:g.140058594T>C-
NM_002109.6(HARS1):c.507G>A (p.Arg169=)3035HARS1Likely benign2149826709RCV002237465; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058602140058602140058602-
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln)3035HARS1Uncertain significance146922029RCV003235685|RCV002237466; NMedGen:CN169374|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058603140058603140058603-
NM_002109.6(HARS1):c.501A>T (p.Arg167=)3035HARS1Likely benign763249148RCV001473953; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058608140058608140058608-
NM_002109.6(HARS1):c.494G>A (p.Arg165His)3035HARS1Uncertain significance373522589RCV001318384|RCV002462929; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN5172025140058615140058615140058615-
NM_002109.6(HARS1):c.493C>T (p.Arg165Cys)3035HARS1Uncertain significance760132903RCV002237467; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058616140058616140058616-
NM_002109.6(HARS1):c.485C>T (p.Ala162Val)3035HARS1Uncertain significance-1RCV002700424; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058624140058624NC_000005.9:g.140058624G>A-
NM_002109.6(HARS1):c.480C>T (p.Asn160=)3035HARS1Likely benign-1RCV003111926; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058629140058629-
NM_002109.6(HARS1):c.477T>C (p.Asp159=)3035HARS1Likely benign750113259RCV001431461; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058632140058632140058632-
NM_002109.6(HARS1):c.472C>T (p.Arg158Trp)3035HARS1Uncertain significance939538495RCV002237468; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058637140058637140058637-
NM_002109.6(HARS1):c.465A>G (p.Val155=)3035HARS1Likely benign1202503765RCV000550862|RCV002461317; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140058644140058644NC_000005.9:g.140058644T>CClinGen:CA446640433C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.465A>T (p.Val155=)3035HARS1Uncertain significance-1RCV003019762; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058644140058644-
NM_002109.6(HARS1):c.464T>G (p.Val155Gly)3035HARS1Conflicting interpretations of pathogenicity1239341211RCV000515539|RCV001214564|RCV002461268; NMONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400586451400586455:g.140058645A>CClinGen:CA361257029C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)3035HARS1Uncertain significance746887565RCV000650150; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058652140058652NC_000005.9:g.140058652C>AClinGen:CA361257060C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.454A>G (p.Ile152Val)3035HARS1Uncertain significance-1RCV002634080; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058655140058655NC_000005.9:g.140058655T>C-
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys)3035HARS1Uncertain significance138035024RCV001230225|RCV002462852; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400586641400586645:g.140058664G>A-
NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)3035HARS1Uncertain significance-1RCV003036778; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058664140058665NC_000005.9:g.140058666_140058667dup-
NM_002109.6(HARS1):c.437_439dup (p.Asn146dup)3035HARS1Conflicting interpretations of pathogenicity755088410RCV002237469|RCV002463127; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140058669140058670140058669-
NM_002109.6(HARS1):c.437A>G (p.Asn146Ser)3035HARS1Uncertain significance781115846RCV002237470; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058672140058672140058672-
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln)3035HARS1Uncertain significance1408195908RCV001295177|RCV002462907; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140058678140058678140058678-
NM_002109.6(HARS1):c.423G>T (p.Met141Ile)3035HARS1Uncertain significance-1RCV003076382; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058686140058686NC_000005.9:g.140058686C>A-
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)3035HARS1Conflicting interpretations of pathogenicity191391414RCV000033152|RCV000514458|RCV000650143|RCV002247415|RCV002460895; NMONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|MeSH:D030342,MedGen:C095012351400586991400586995:g.140058699C>TClinGen:CA130727,UniProtKB:P12081#VAR_069022,OMIM:142810.0002C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)3035HARS1Uncertain significance1408800953RCV001068515|RCV003132208; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400587001400587005:g.140058700G>A-
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)3035HARS1Uncertain significance1334234821RCV000811811; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400587021400587025:g.140058702G>A-
NM_002109.6(HARS1):c.401C>G (p.Pro134Arg)3035HARS1Uncertain significance863225122RCV002237471; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058708140058708140058708-
NM_002109.6(HARS1):c.398T>A (p.Val133Asp)3035HARS1Uncertain significance2149826951RCV002237472; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058711140058711140058711-
NM_002109.6(HARS1):c.398T>C (p.Val133Ala)3035HARS1Uncertain significance-1RCV002806924; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058711140058711NC_000005.9:g.140058711A>G-
NM_002109.6(HARS1):c.397-11T>G3035HARS1Conflicting interpretations of pathogenicity763198737RCV002237473|RCV003235686; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140058723140058723140058723-
NM_002109.6(HARS1):c.397-12C>G3035HARS1Likely benign2149826975RCV002237474; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140058724140058724140058724-
NM_002109.6(HARS1):c.396+20C>T3035HARS1Benign191205977RCV002237475; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059353140059353140059353-
NM_002109.6(HARS1):c.396+14C>T3035HARS1Likely benign1319381924RCV002237476; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059359140059359140059359-
NM_002109.6(HARS1):c.396+9C>T3035HARS1Likely benign-1RCV003088063; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059364140059364NC_000005.9:g.140059364G>A-
NM_002109.6(HARS1):c.390C>T (p.Asp130=)3035HARS1Likely benign754863405RCV001394493|RCV002461094; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140059379140059379NC_000005.9:g.140059379G>AClinGen:CA3444126CN033130 500004 Retinitis pigmentosa-deafness syndrome;
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)3035HARS1Uncertain significance-1RCV002872081; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059381140059381NC_000005.9:g.140059381C>T-
NM_002109.6(HARS1):c.386A>G (p.Tyr129Cys)3035HARS1Uncertain significance-1RCV002587277; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059383140059383NC_000005.9:g.140059383T>C-
NM_002109.6(HARS1):c.383G>A (p.Arg128His)3035HARS1Uncertain significance748062451RCV001226266; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400593861400593865:g.140059386C>T-
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)3035HARS1Conflicting interpretations of pathogenicity138582560RCV000540562|RCV001567367|RCV002461095; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C09501235140059387140059387NC_000005.9:g.140059387G>AClinGen:CA3444129CN033130 500004 Retinitis pigmentosa-deafness syndrome;
NM_002109.6(HARS1):c.352_375del (p.Lys118_Leu125del)3035HARS1Uncertain significance2149827873RCV002237477; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059394140059417140059393-
NM_002109.6(HARS1):c.369G>T (p.Glu123Asp)3035HARS1Uncertain significance2149827889RCV002236506; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059400140059400140059400-
NM_002109.6(HARS1):c.368A>C (p.Glu123Ala)3035HARS1Uncertain significance2149827896RCV002236507; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059401140059401140059401-
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)3035HARS1Likely benign749493279RCV000953789; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400594051400594055:g.140059405C>T-
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp)3035HARS1Uncertain significance749493279RCV001211453; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400594051400594055:g.140059405C>A-
NM_002109.6(HARS1):c.363C>T (p.Gly121=)3035HARS1Uncertain significance372293095RCV001350059; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059406140059406140059406-
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr)3035HARS1Uncertain significance1758612647RCV001233100; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400594141400594145:g.140059414C>A-
NM_002109.6(HARS1):c.349C>G (p.Leu117Val)3035HARS1Uncertain significance1758613182RCV001232554; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400594201400594205:g.140059420G>C-
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg)3035HARS1Uncertain significance746177150RCV001809096|RCV002541478; NMONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059434140059434140059434-
NM_002109.6(HARS1):c.317A>G (p.Lys106Arg)3035HARS1Uncertain significance1281935760RCV002236508; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059452140059452140059452-
NM_002109.6(HARS1):c.307C>G (p.Leu103Val)3035HARS1Uncertain significance556459899RCV002236509; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059462140059462140059462-
NM_002109.6(HARS1):c.301-12T>C3035HARS1Likely benign-1RCV002995928; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059480140059480NC_000005.9:g.140059480A>G-
NM_002109.6(HARS1):c.301-13A>G3035HARS1Likely benign370697844RCV002237478; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140059481140059481140059481-
NM_002109.6(HARS1):c.300+138G>A3035HARS1Benign2530239RCV001518406|RCV001535118; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140062547140062547140062547-
NM_002109.6(HARS1):c.300+15A>G3035HARS1Likely benign1217420965RCV002237479; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062670140062670140062670-
NM_002109.6(HARS1):c.300+9T>C3035HARS1Likely benign-1RCV003036291; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062676140062676NC_000005.9:g.140062676A>G-
NM_002109.6(HARS1):c.300G>A (p.Lys100=)3035HARS1Uncertain significance-1RCV003042271; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062685140062685-
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)3035HARS1Uncertain significance1758818266RCV001050324|RCV003332288; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN51720251400626891400626895:g.140062689A>C-
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter)3035HARS1Uncertain significance1758818618RCV001216183; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062698140062699NC_000005.9:g.140062698_140062699delinsTA-
NM_002109.6(HARS1):c.286G>A (p.Val96Ile)3035HARS1Uncertain significance1758818774RCV002237480; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062699140062699140062699-
NM_002109.6(HARS1):c.262G>A (p.Gly88Ser)3035HARS1Uncertain significance574448668RCV002237481|RCV003130695; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140062723140062723140062723-
NM_002109.6(HARS1):c.261C>T (p.His87=)3035HARS1Likely benign-1RCV002619528; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062724140062724-
NM_002109.6(HARS1):c.257G>A (p.Arg86His)3035HARS1Uncertain significance555242163RCV001508176|RCV002241190|RCV002463001; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140062728140062728140062728-
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys)3035HARS1Uncertain significance775758650RCV002225157|RCV002236390; NMONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062729140062729140062729-
NM_002109.6(HARS1):c.245G>A (p.Arg82His)3035HARS1Uncertain significance747494880RCV002237482; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062740140062740140062740-
NM_002109.6(HARS1):c.245G>C (p.Arg82Pro)3035HARS1Uncertain significance-1RCV003053996; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062740140062740NC_000005.9:g.140062740C>G-
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)3035HARS1Uncertain significance769340873RCV000688810; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400627411400627415:g.140062741G>A-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.235G>A (p.Val79Ile)3035HARS1Uncertain significance1247876038RCV001315643; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062750140062750140062750-
NM_002109.6(HARS1):c.234C>T (p.Asp78=)3035HARS1Benign/Likely benign142994969RCV000757352|RCV001083144|RCV002461912; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400627511400627515:g.140062751G>AClinGen:CA3444157CN169374 not specified;
NM_002109.6(HARS1):c.223_225del (p.Lys75del)3035HARS1Uncertain significance1185763867RCV002237483; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062760140062762140062759-
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)3035HARS1Uncertain significance774017621RCV000650145|RCV001001071; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN16937451400627651400627655:g.140062765C>TClinGen:CA3444160C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.218G>A (p.Arg73His)3035HARS1Uncertain significance767325912RCV000701068; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400627671400627675:g.140062767C>T-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)3035HARS1Uncertain significance-1RCV002633743; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062768140062768NC_000005.9:g.140062768G>A-
NM_002109.6(HARS1):c.207G>C (p.Gln69His)3035HARS1Uncertain significance1758823982RCV002237484; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062778140062778140062778-
NM_002109.6(HARS1):c.205C>T (p.Gln69Ter)3035HARS1Uncertain significance906500515RCV002237485; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062780140062780140062780-
NM_002109.6(HARS1):c.205C>A (p.Gln69Lys)3035HARS1Uncertain significance906500515RCV002238013|RCV002253998; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C36619005140062780140062780140062780-
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)3035HARS1Uncertain significance753788498RCV000684911; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400627821400627825:g.140062782C>T-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)3035HARS1Uncertain significance757279674RCV001240386|RCV001644957|RCV003235510; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600, Orphanet:316226|MedGen:CN16937451400627831400627835:g.140062783G>A-
NM_002109.6(HARS1):c.200C>T (p.Pro67Leu)3035HARS1Uncertain significance1758824887RCV001266787|RCV002241810; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400627851400627855:g.140062785G>A-
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)3035HARS1Uncertain significance1581516557RCV000806623; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400627861400627865:g.140062786G>A-
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys)3035HARS1Uncertain significance1758827286RCV001208952; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400627971400627975:g.140062797C>T-
NM_002109.6(HARS1):c.181-8A>C3035HARS1Likely benign2149832909RCV002236511; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062812140062812140062812-
NM_002109.6(HARS1):c.181-15G>C3035HARS1Benign184748736RCV001520198; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140062819140062819140062819-
NM_002109.6(HARS1):c.180+20G>C3035HARS1Likely benign-1RCV002615457; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070420140070420NC_000005.9:g.140070420C>G-
NM_002109.6(HARS1):c.180+16T>G3035HARS1Likely benign2149844870RCV002236512; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070424140070424140070424-
NM_002109.6(HARS1):c.180+12C>T3035HARS1Likely benign-1RCV002815193; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070428140070428NC_000005.9:g.140070428G>A-
NM_002109.6(HARS1):c.180+10T>C3035HARS1Likely benign-1RCV002898852; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070430140070430NC_000005.9:g.140070430A>G-
NM_002109.6(HARS1):c.180+8C>A3035HARS1Likely benign1759371863RCV001454431; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070432140070432140070432-
NM_002109.6(HARS1):c.180+4A>T3035HARS1Uncertain significance2149844902RCV002236513; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070436140070436140070436-
NM_002109.6(HARS1):c.180G>A (p.Lys60=)3035HARS1Uncertain significance-1RCV002866997; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070440140070440-
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)3035HARS1Uncertain significance-1RCV003051647; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070442140070442NC_000005.9:g.140070442T>G-
NM_002109.6(HARS1):c.177C>T (p.Pro59=)3035HARS1Likely benign2149844924RCV001459312; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070443140070443140070443-
NM_002109.6(HARS1):c.175C>T (p.Pro59Ser)3035HARS1Uncertain significance1759373051RCV002238014; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070445140070445140070445-
NM_002109.6(HARS1):c.174C>T (p.Thr58=)3035HARS1Likely benign761695061RCV001434915; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400704461400704465:g.140070446G>A-
NM_002109.6(HARS1):c.174C>A (p.Thr58=)3035HARS1Likely benign761695061RCV002545909; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400704461400704465:g.140070446G>T-
NM_002109.6(HARS1):c.174C>G (p.Thr58=)3035HARS1Likely benign761695061RCV001433964|RCV001449838; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN1693745140070446140070446140070446-
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)3035HARS1Uncertain significance-1RCV002633196; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070450140070450NC_000005.9:g.140070450T>C-
NM_002109.6(HARS1):c.165G>A (p.Val55=)3035HARS1Likely benign780352804RCV001411026; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070455140070455140070455-
NM_002109.6(HARS1):c.159A>G (p.Lys53=)3035HARS1Uncertain significance1759375118RCV001060785; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400704611400704615:g.140070461T>C-
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)3035HARS1Conflicting interpretations of pathogenicity201398055RCV000954564|RCV003328473; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C366190051400704651400704655:g.140070465T>G-
NM_002109.6(HARS1):c.149G>A (p.Ser50Asn)3035HARS1Uncertain significance-1RCV002613124; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070471140070471NC_000005.9:g.140070471C>T-
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)3035HARS1Uncertain significance1759376273RCV001053028; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400704781400704785:g.140070478C>T-
NM_002109.6(HARS1):c.132G>A (p.Gln44=)3035HARS1Likely benign748645783RCV001449300; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070488140070488140070488-
NM_002109.6(HARS1):c.115C>G (p.Leu39Val)3035HARS1Uncertain significance201729757RCV001208199; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400705051400705055:g.140070505G>C-
NM_002109.6(HARS1):c.115C>T (p.Leu39=)3035HARS1Likely benign201729757RCV002238015; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070505140070505140070505-
NM_002109.6(HARS1):c.105G>A (p.Val35=)3035HARS1Likely benign2149845187RCV002238016; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070515140070515140070515-
NM_002109.6(HARS1):c.104T>C (p.Val35Ala)3035HARS1Uncertain significance1581532058RCV002238017|RCV003089229; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C09501235140070516140070516140070516-
NM_002109.6(HARS1):c.103G>A (p.Val35Met)3035HARS1Conflicting interpretations of pathogenicity144588417RCV000650142|RCV001584068|RCV002461096; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN517202|MeSH:D030342,MedGen:C09501235140070517140070517NC_000005.9:g.140070517C>TClinGen:CA3444202CN033130 500004 Retinitis pigmentosa-deafness syndrome;
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del)3035HARS1Uncertain significance962526639RCV001368586; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070517140070519140070516-
NM_002109.6(HARS1):c.101A>T (p.Glu34Val)3035HARS1Uncertain significance-1RCV003027488; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070519140070519NC_000005.9:g.140070519T>A-
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln)3035HARS1Uncertain significance377739193RCV001301604; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070520140070520140070520-
NM_002109.6(HARS1):c.93C>G (p.Ile31Met)3035HARS1Uncertain significance768408406RCV002238018; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070527140070527140070527-
NM_002109.6(HARS1):c.93C>T (p.Ile31=)3035HARS1Likely benign-1RCV002947666; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070527140070527-
NM_002109.6(HARS1):c.91-7T>C3035HARS1Likely benign2149845275RCV001470026; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070536140070536140070536-
NM_002109.6(HARS1):c.91-13T>A3035HARS1Likely benign-1RCV002790209; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070542140070542NC_000005.9:g.140070542A>T-
NM_002109.6(HARS1):c.91-17del3035HARS1Benign543418150RCV001520622; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070546140070546140070545-
NM_002109.6(HARS1):c.91-17C>A3035HARS1Likely benign373242229RCV002238019; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070546140070546140070546-
NM_002109.6(HARS1):c.90+18G>A3035HARS1Likely benign-1RCV002588301; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070782140070782NC_000005.9:g.140070782C>T-
NM_002109.6(HARS1):c.90+17del3035HARS1Likely benign2149845881RCV002238020; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070783140070783140070782-
NM_002109.6(HARS1):c.90+16C>T3035HARS1Likely benign757866174RCV002238021; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070784140070784140070784-
NM_002109.6(HARS1):c.90+14A>C3035HARS1Likely benign779580751RCV002238022; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070786140070786140070786-
NM_002109.6(HARS1):c.90+11G>A3035HARS1Likely benign-1RCV002994127; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070789140070789NC_000005.9:g.140070789C>T-
NM_002109.6(HARS1):c.90+5G>A3035HARS1Uncertain significance768353479RCV002238023; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070795140070795140070795-
NM_002109.6(HARS1):c.90+4A>C3035HARS1Uncertain significance776405841RCV001240042; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400707961400707965:g.140070796T>G-
NM_002109.6(HARS1):c.90+3G>A3035HARS1Uncertain significance1759409258RCV001324652; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070797140070797140070797-
NM_002109.6(HARS1):c.90+1G>C3035HARS1Conflicting interpretations of pathogenicity1554109203RCV000659027|RCV000660455|RCV000807497; NMedGen:C3661900|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504; MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070799140070799NC_000005.9:g.140070799C>G-C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.90+1G>A3035HARS1Uncertain significance-1RCV003041489; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070799140070799NC_000005.9:g.140070799C>T-
NM_002109.6(HARS1):c.88C>A (p.Leu30Met)3035HARS1Uncertain significance1247070065RCV000686860; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400708021400708025:g.140070802G>T-C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)3035HARS1Uncertain significance-1RCV002975211; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070810140070810NC_000005.9:g.140070810C>T-
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)3035HARS1Uncertain significance-1RCV003040110; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070816140070816NC_000005.9:g.140070816T>C-
NM_002109.6(HARS1):c.72G>A (p.Gln24=)3035HARS1Likely benign148516171RCV000650157|RCV001565512|RCV002461966; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C3661900|MeSH:D030342,MedGen:C09501235140070818140070818NC_000005.9:g.140070818C>TClinGen:CA3444227C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)3035HARS1Uncertain significance1759411593RCV001041263; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400708281400708285:g.140070828A>C-
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)3035HARS1Uncertain significance762976181RCV000801444; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400708291400708295:g.140070829G>A-
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)3035HARS1Uncertain significance-1RCV002785283; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070832140070832NC_000005.9:g.140070832C>T-
NM_002109.6(HARS1):c.52G>A (p.Val18Met)3035HARS1Uncertain significance774632798RCV000524753|RCV001001086|RCV003409814; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|51400708381400708385:g.140070838C>TClinGen:CA3444230C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)3035HARS1Uncertain significance1394473077RCV001211202|RCV002561755; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MeSH:D030342,MedGen:C095012351400708471400708475:g.140070847C>T-
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)3035HARS1Benign117579809RCV000874252|RCV001615072; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:C366190051400708501400708505:g.140070850G>T-
NM_002109.6(HARS1):c.39T>G (p.Leu13=)3035HARS1Likely benign1453807986RCV000954813; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400708511400708515:g.140070851A>C-
NM_002109.6(HARS1):c.28C>T (p.Leu10=)3035HARS1Likely benign-1RCV002676624; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070862140070862-
NM_002109.6(HARS1):c.24G>A (p.Glu8=)3035HARS1Likely benign-1RCV003082974; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070866140070866-
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)3035HARS1Uncertain significance1461976080RCV001237374; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400708731400708735:g.140070873G>C-
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)3035HARS1Conflicting interpretations of pathogenicity78741041RCV000525701|RCV000606943|RCV001573133|RCV002461316; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C09501235140070876140070876NC_000005.9:g.140070876G>TClinGen:CA3444238CN169374 not specified;
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)3035HARS1Uncertain significance1759420210RCV001297651; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:6145045140070886140070886140070886-
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)3035HARS1Uncertain significance1759420438RCV001214963; NMONDO:MONDO:0013788,MedGen:C3281066,OMIM:61450451400708881400708885:g.140070888A>G-
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