MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Usher Syndromes (D052245)
..Starting node ..USHER SYNDROME, TYPE IIIB (OMIM:614504)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID-F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IIIB (OMIM:614504)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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:

Reference:

MedGen: 614504
MeSH: 614504
OMIM: 614504;
MSeqDR :
Genes: HARS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002194	Delayed gross motor development NAMDC: Gross motor delay
3	HP:0000365	Hearing impairment
4	HP:0000666	Horizontal nystagmus
5	HP:0000543	Optic disc pallor
6	HP:0000613	Photophobia
7	HP:0002078	Truncal ataxia
8	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000005.9:g.(?_140052489)_(140072312_?)del	3035	HARS1	Uncertain significance	-1	RCV001338626;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140052489	140072312	-1	-
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)	3035	HARS1	Uncertain significance	rs1255236125	RCV001060681;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053846	140053846	5:g.140053846C>A	-
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg)	3035	HARS1	Uncertain significance	-1	RCV001361381\|RCV001776221\|RCV002462955;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140053853	140053853	140053853	-
NM_002109.6(HARS1):c.1519T>G (p.Cys507Gly)	3035	HARS1	Uncertain significance	-1	RCV002237419;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053853	140053853	140053853	-
NM_002109.6(HARS1):c.1510C>T (p.Gln504Ter)	3035	HARS1	Uncertain significance	-1	RCV002237420;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053862	140053862	140053862	-
NM_002109.6(HARS1):c.1508G>T (p.Gly503Val)	3035	HARS1	Uncertain significance	-1	RCV002237421;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053864	140053864	140053864	-
NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)	3035	HARS1	Uncertain significance	-1	RCV002572037;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053873	140053873	NC_000005.9:g.140053873C>T	-
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)	3035	HARS1	Uncertain significance	-1	RCV001367272;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053880	140053880	140053880	-
NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala)	3035	HARS1	Uncertain significance	-1	RCV002237422;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053882	140053882	140053882	-
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)	3035	HARS1	Uncertain significance	rs138377835	RCV001343274;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053888	140053888	140053888	-
NM_002109.6(HARS1):c.1479C>T (p.Asp493=)	3035	HARS1	Likely benign	rs1366581698	RCV000934788\|RCV001471114;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053893	140053893	5:g.140053893G>A	-
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)	3035	HARS1	Uncertain significance	rs1295541335	RCV001066838;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053903	140053903	5:g.140053903C>T	-
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)	3035	HARS1	Uncertain significance	rs373709175	RCV001038296;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053904	140053904	5:g.140053904G>A	-
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)	3035	HARS1	Uncertain significance	rs771603866	RCV001201568;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053910	140053910	5:g.140053910C>T	-
NM_002109.6(HARS1):c.1461G>A (p.Val487=)	3035	HARS1	Uncertain significance	rs931036155	RCV000650144;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053911	140053911	5:g.140053911C>T	ClinGen:CA128376537	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1459-17_1459-15del	3035	HARS1	Likely benign	-1	RCV002620271;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053928	140053930	NC_000005.9:g.140053930AAG[1]	-
NM_002109.6(HARS1):c.1459-16C>T	3035	HARS1	Likely benign	-1	RCV002710216;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140053929	140053929	NC_000005.9:g.140053929G>A	-
NM_002109.6(HARS1):c.1458+17G>A	3035	HARS1	Likely benign	-1	RCV002237423;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054247	140054247	140054247	-
NM_002109.6(HARS1):c.1458+7G>A	3035	HARS1	Benign	rs58302597	RCV000221917\|RCV000607948;	N	MedGen:CN169374\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054257	140054257	NC_000005.9:g.140054257C>T	ClinGen:CA3443815	CN169374 not specified;
NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys)	3035	HARS1	Uncertain significance	-1	RCV003007420;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054269	140054269	NC_000005.9:g.140054269C>T	-
NM_002109.6(HARS1):c.1452G>A (p.Arg484=)	3035	HARS1	Likely benign	-1	RCV002237424;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054270	140054270	140054270	-
NM_002109.6(HARS1):c.1448G>A (p.Ser483Asn)	3035	HARS1	Uncertain significance	-1	RCV002237425;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054274	140054274	140054274	-
NM_002109.6(HARS1):c.1447A>G (p.Ser483Gly)	3035	HARS1	Uncertain significance	-1	RCV002237426;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054275	140054275	140054275	-
NM_002109.6(HARS1):c.1446G>A (p.Thr482=)	3035	HARS1	Likely benign	-1	RCV001464407;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054276	140054276	140054276	-
NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)	3035	HARS1	Conflicting interpretations of pathogenicity	-1	RCV001410357\|RCV001773744\|RCV002462973;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140054277	140054277	140054277	-
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala)	3035	HARS1	Uncertain significance	rs376596538	RCV001352445;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054280	140054280	140054280	-
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)	3035	HARS1	Uncertain significance	rs1581500046	RCV000810222;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054283	140054283	5:g.140054283G>A	-
NM_002109.6(HARS1):c.1436G>A (p.Arg479His)	3035	HARS1	Uncertain significance	-1	RCV002616496;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054286	140054286	NC_000005.9:g.140054286C>T	-
NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys)	3035	HARS1	Uncertain significance	-1	RCV002237427;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054287	140054287	140054287	-
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)	3035	HARS1	Uncertain significance	rs1024985302	RCV000650148;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054289	140054289	5:g.140054289A>C	ClinGen:CA128376638	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1429A>G (p.Lys477Glu)	3035	HARS1	Uncertain significance	-1	RCV002237428;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054293	140054293	140054293	-
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)	3035	HARS1	Uncertain significance	rs971012132	RCV001061946\|RCV001355745;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140054302	140054302	5:g.140054302C>T	-
NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)	3035	HARS1	Uncertain significance	-1	RCV002862640;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054308	140054308	NC_000005.9:g.140054308T>C	-
NM_002109.6(HARS1):c.1410A>G (p.Glu470=)	3035	HARS1	Likely benign	rs764911936	RCV000932025\|RCV002235642;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054312	140054312	5:g.140054312T>C	-
NM_002109.6(HARS1):c.1407G>C (p.Gln469His)	3035	HARS1	Uncertain significance	rs1405966952	RCV001324364\|RCV002462933;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140054315	140054315	140054315	-
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)	3035	HARS1	Conflicting interpretations of pathogenicity	rs199615869	RCV000650149\|RCV000998447\|RCV002461962;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140054320	140054320	5:g.140054320C>T	ClinGen:CA3443829	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1399G>A (p.Gly467Ser)	3035	HARS1	Uncertain significance	rs372237777	RCV000488199\|RCV002230963;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054323	140054323	5:g.140054323C>T	ClinGen:CA16621825	CN517202 not provided;
NM_002109.6(HARS1):c.1398C>T (p.Ile466=)	3035	HARS1	Likely benign	rs766088180	RCV000877277\|RCV001417892;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054324	140054324	5:g.140054324G>A	-
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	3035	HARS1	Conflicting interpretations of pathogenicity	rs754304255	RCV001007622\|RCV001246783\|RCV001644878\|RCV001814247;	N	11 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 O	5	140054329	140054329	5:g.140054329T>G	-
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)	3035	HARS1	Uncertain significance	rs754304255	RCV001062306;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054329	140054329	5:g.140054329T>C	-
NM_002109.6(HARS1):c.1387G>A (p.Val463Met)	3035	HARS1	Uncertain significance	-1	RCV002237429;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054335	140054335	140054335	-
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)	3035	HARS1	Conflicting interpretations of pathogenicity	rs891844407	RCV000701574\|RCV000825171\|RCV001775975;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MedGen:CN517202	5	140054350	140054350	NC_000005.9:g.140054350C>T	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)	3035	HARS1	Uncertain significance	rs1204851184	RCV000808157;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054353	140054353	5:g.140054353C>T	-
NM_002109.6(HARS1):c.1362C>T (p.Tyr454_Cys455=)	3035	HARS1	Likely benign	-1	RCV002858047;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054360	140054360	NC_000005.9:g.140054360G>A	-
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)	3035	HARS1	Conflicting interpretations of pathogenicity	rs387906639	RCV000022619\|RCV000608744\|RCV000623702;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	5	140054361	140054361	5:g.140054361T>G	ClinGen:CA277969,UniProtKB:P12081#VAR_067918,OMIM:142810.0001	C0950123 Inborn genetic diseases;
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg)	3035	HARS1	Uncertain significance	-1	RCV002236490;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054364	140054364	140054364	-
NM_002109.6(HARS1):c.1356A>G (p.Leu452_Gln453=)	3035	HARS1	Likely benign	-1	RCV002624959;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054366	140054366	NC_000005.9:g.140054366T>C	-
NM_002109.6(HARS1):c.1344A>G (p.Leu448=)	3035	HARS1	Likely benign	-1	RCV001438349;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054378	140054378	140054378	-
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)	3035	HARS1	Uncertain significance	rs756193571	RCV001049721;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054388	140054390	5:g.140054388_140054390del	-
NM_002109.6(HARS1):c.1326C>T (p.Tyr442=)	3035	HARS1	Likely benign	-1	RCV001484442;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054396	140054396	140054396	-
NM_002109.6(HARS1):c.1323G>A (p.Leu441=)	3035	HARS1	Likely benign	-1	RCV001496780;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054399	140054399	140054399	-
NM_002109.6(HARS1):c.1312-8C>T	3035	HARS1	Likely benign	rs772505507	RCV000220628\|RCV000650158\|RCV001582727;	N	MedGen:CN169374\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140054418	140054418	NC_000005.9:g.140054418G>A	ClinGen:CA3443842	CN169374 not specified;
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA	3035	HARS1	Uncertain significance	-1	RCV002236491;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054419	140054420	140054419	-
NM_002109.6(HARS1):c.1312-11G>A	3035	HARS1	Likely benign	-1	RCV003005915;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054421	140054421	NC_000005.9:g.140054421C>T	-
NM_002109.6(HARS1):c.1311+19A>G	3035	HARS1	Likely benign	-1	RCV003080185;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054583	140054583	NC_000005.9:g.140054583T>C	-
NM_002109.6(HARS1):c.1311+4T>C	3035	HARS1	Uncertain significance	rs958234389	RCV000796482;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054598	140054598	5:g.140054598A>G	-
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)	3035	HARS1	Uncertain significance	-1	RCV002991661;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054627	140054627	NC_000005.9:g.140054627G>A	-
NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)	3035	HARS1	Uncertain significance	-1	RCV003085936;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054642	140054642	NC_000005.9:g.140054642C>T	-
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)	3035	HARS1	Benign/Likely benign	rs34790864	RCV000650156\|RCV000825071\|RCV001592815;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MedGen:CN517202	5	140054652	140054652	NC_000005.9:g.140054652G>C	ClinGen:CA3443863	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del)	3035	HARS1	Uncertain significance	rs779289896	RCV000822775\|RCV002462189;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140054656	140054658	5:g.140054656_140054658del	-
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)	3035	HARS1	Uncertain significance	rs1758283199	RCV001055820;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054657	140054658	NC_000005.9:g.140054657_140054658delinsAG	-
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)	3035	HARS1	Uncertain significance	rs866572603	RCV001216839\|RCV002462836;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140054664	140054664	5:g.140054664G>A	-
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)	3035	HARS1	Uncertain significance	rs201011416	RCV000801945;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054685	140054685	5:g.140054685G>A	-
NM_002109.6(HARS1):c.1227A>C (p.Thr409=)	3035	HARS1	Likely benign	-1	RCV002236492;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054686	140054686	140054686	-
NM_002109.6(HARS1):c.1221G>A (p.Thr407=)	3035	HARS1	Likely benign	rs150274370	RCV000537493\|RCV002461315;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140054692	140054692	NC_000005.9:g.140054692C>T	ClinGen:CA3443872	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met)	3035	HARS1	Uncertain significance	rs760726168	RCV001318675;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054693	140054693	140054693	-
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)	3035	HARS1	Uncertain significance	rs369070016	RCV000650152\|RCV001508174\|RCV002461963;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140054696	140054696	5:g.140054696G>T	ClinGen:CA3443875	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)	3035	HARS1	Uncertain significance	rs147185134	RCV001219683\|RCV002285459;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140054699	140054699	5:g.140054699C>T	-
NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro)	3035	HARS1	Uncertain significance	-1	RCV002460744\|RCV003103083;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054699	140054699	NC_000005.9:g.140054699C>G	-
NM_002109.6(HARS1):c.1213C>A (p.Arg405=)	3035	HARS1	Likely benign	rs908109064	RCV000888891;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054700	140054700	5:g.140054700G>T	-
NM_002109.6(HARS1):c.1213C>T (p.Arg405Trp)	3035	HARS1	Uncertain significance	-1	RCV002463124\|RCV002236493;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054700	140054700	140054700	-
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)	3035	HARS1	Conflicting interpretations of pathogenicity	rs552434037	RCV001217845\|RCV002562979\|RCV003127693;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	140054712	140054712	5:g.140054712C>G	-
NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys)	3035	HARS1	Likely benign	-1	RCV001476429;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054712	140054712	140054712	-
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe)	3035	HARS1	Uncertain significance	rs1758288242	RCV001205664;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054713	140054713	5:g.140054713C>A	-
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)	3035	HARS1	Benign	rs34732372	RCV000559035\|RCV000825070\|RCV001567640;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MedGen:CN517202	5	140054717	140054717	NC_000005.9:g.140054717G>A	ClinGen:CA3443882	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser)	3035	HARS1	Uncertain significance	-1	RCV002909705;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054718	140054718	NC_000005.9:g.140054718C>A	-
NM_002109.6(HARS1):c.1195-1G>A	3035	HARS1	Uncertain significance	-1	RCV002237430;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054719	140054719	140054719	-
NM_002109.6(HARS1):c.1195-9_1195-8delinsTA	3035	HARS1	Uncertain significance	-1	RCV003021859;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054726	140054727	NC_000005.9:g.140054726_140054727delinsTA	-
NM_002109.6(HARS1):c.1195-14T>A	3035	HARS1	Uncertain significance	-1	RCV002843844;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054732	140054732	NC_000005.9:g.140054732A>T	-
NM_002109.6(HARS1):c.1195-18T>C	3035	HARS1	Likely benign	-1	RCV002237431;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140054736	140054736	140054736	-
NC_000005.10:g.(?_140676634)_(140678035_?)del	3035	HARS1	Uncertain significance	-1	RCV000708163;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056219	140057620		-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1194+20T>C	3035	HARS1	Likely benign	-1	RCV001415712;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056219	140056219	140056219	-
NM_002109.6(HARS1):c.1194+18G>A	3035	HARS1	Likely benign	-1	RCV002237432;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056221	140056221	140056221	-
NM_002109.6(HARS1):c.1194+15G>T	3035	HARS1	Likely benign	-1	RCV002237433;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056224	140056224	140056224	-
NM_002109.6(HARS1):c.1194+13A>G	3035	HARS1	Likely benign	-1	RCV002237434;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056226	140056226	140056226	-
NM_002109.6(HARS1):c.1194+4G>A	3035	HARS1	Uncertain significance	rs370189312	RCV000685778;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056235	140056235	5:g.140056235C>T	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly)	3035	HARS1	Uncertain significance	-1	RCV002237435;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056247	140056247	140056247	-
NM_002109.6(HARS1):c.1185G>C (p.Gln395His)	3035	HARS1	Uncertain significance	-1	RCV002237436;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056248	140056248	140056248	-
NM_002109.6(HARS1):c.1177G>A (p.Val393Met)	3035	HARS1	Conflicting interpretations of pathogenicity	rs192923161	RCV000825348\|RCV001344025\|RCV002462191;	N	MedGen:CN169374\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056256	140056256	5:g.140056256C>T	-
NM_002109.6(HARS1):c.1176C>T (p.Ile392=)	3035	HARS1	Likely benign	-1	RCV001474674;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056257	140056257	140056257	-
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp)	3035	HARS1	Uncertain significance	rs761949872	RCV001339624;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056271	140056271	140056271	-
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)	3035	HARS1	Uncertain significance	rs1581503971	RCV000797653;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056273	140056273	5:g.140056273T>C	-
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)	3035	HARS1	Uncertain significance	rs1758380241	RCV001351385\|RCV002282526;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140056274	140056274	140056274	-
NM_002109.6(HARS1):c.1158G>T (p.Val386=)	3035	HARS1	Likely benign	-1	RCV002237437;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056275	140056275	140056275	-
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)	3035	HARS1	Uncertain significance	rs1758381320	RCV001039688;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056282	140056282	5:g.140056282A>T	-
NM_002109.6(HARS1):c.1150A>G (p.Ile384Val)	3035	HARS1	Uncertain significance	-1	RCV002609672;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056283	140056283	NC_000005.9:g.140056283T>C	-
NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe)	3035	HARS1	Uncertain significance	-1	RCV002730538;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056283	140056283	NC_000005.9:g.140056283T>A	-
NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr)	3035	HARS1	Uncertain significance	-1	RCV002237438\|RCV003134400;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140056297	140056297	140056297	-
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)	3035	HARS1	Uncertain significance	rs377410852	RCV000699182\|RCV002462040;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056300	140056300	5:g.140056300G>A	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1131del (p.Pro378fs)	3035	HARS1	Uncertain significance	-1	RCV002237439;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056302	140056302	140056301	-
NM_002109.6(HARS1):c.1129G>T (p.Val377Leu)	3035	HARS1	Uncertain significance	-1	RCV002237440\|RCV002463125;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056304	140056304	140056304	-
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)	3035	HARS1	Benign	rs139447495	RCV000844310\|RCV001079234;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056306	140056306	NC_000005.9:g.140056306T>C	ClinGen:CA3443917	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1124G>A (p.Arg375His)	3035	HARS1	Likely benign	rs151258227	RCV000983870\|RCV002462241;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056309	140056309	5:g.140056309C>T	-
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)	3035	HARS1	Uncertain significance	rs774682373	RCV000534421\|RCV001535484\|RCV001824342;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MONDO:MONDO:0016485,MedGen:C1568248, Orphanet:231183; MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333; MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140056310	140056310	5:g.140056310G>A	ClinGen:CA3443919	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg)	3035	HARS1	Uncertain significance	-1	RCV002852671;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056315	140056315	NC_000005.9:g.140056315T>C	-
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)	3035	HARS1	Uncertain significance	rs753104645	RCV000650146\|RCV001796168;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140056322	140056322	NC_000005.9:g.140056322C>T	ClinGen:CA128377406	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1110C>T (p.Phe370=)	3035	HARS1	Likely benign	rs761267344	RCV000650155\|RCV001171966\|RCV002461965;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140056323	140056323	5:g.140056323G>A	ClinGen:CA3443923	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1106T>C (p.Met369Thr)	3035	HARS1	Uncertain significance	-1	RCV002236494;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056327	140056327	140056327	-
NM_002109.6(HARS1):c.1105A>G (p.Met369Val)	3035	HARS1	Conflicting interpretations of pathogenicity	-1	RCV002236495\|RCV003093907;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056328	140056328	140056328	-
NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg)	3035	HARS1	Uncertain significance	-1	RCV002952880;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056340	140056340	NC_000005.9:g.140056340C>T	-
NM_002109.6(HARS1):c.1092T>C (p.Asp364=)	3035	HARS1	Likely benign	-1	RCV002236496;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056341	140056341	140056341	-
NM_002109.6(HARS1):c.1088A>G (p.Tyr363Cys)	3035	HARS1	Uncertain significance	-1	RCV002236497;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056345	140056345	140056345	-
NM_002109.6(HARS1):c.1086C>T (p.Arg362=)	3035	HARS1	Likely benign	-1	RCV001500774;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056347	140056347	140056347	-
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)	3035	HARS1	Uncertain significance	rs751272874	RCV000799320;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056349	140056349	5:g.140056349G>A	-
NM_002109.6(HARS1):c.1076C>A (p.Ala359Asp)	3035	HARS1	Uncertain significance	-1	RCV002236498;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056357	140056357	140056357	-
NM_002109.6(HARS1):c.1075G>T (p.Ala359Ser)	3035	HARS1	Uncertain significance	-1	RCV002237441;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056358	140056358	140056358	-
NM_002109.6(HARS1):c.1069G>A (p.Val357Met)	3035	HARS1	Uncertain significance	rs1210579780	RCV001344926;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056364	140056364	140056364	-
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)	3035	HARS1	Uncertain significance	rs144322728	RCV000515536\|RCV000650140\|RCV002461269;	N	MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056366	140056366	5:g.140056366C>T	ClinGen:CA3443931	C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)	3035	HARS1	Uncertain significance	-1	RCV002943577;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056375	140056375	NC_000005.9:g.140056375C>G	-
NM_002109.6(HARS1):c.1056G>A (p.Leu352=)	3035	HARS1	Likely benign	-1	RCV002237442;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056377	140056377	140056377	-
NM_002109.6(HARS1):c.1055T>G (p.Leu352Arg)	3035	HARS1	Uncertain significance	-1	RCV002894516;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056378	140056378	NC_000005.9:g.140056378A>C	-
NM_002109.6(HARS1):c.1053C>G (p.Pro351=)	3035	HARS1	Likely benign	rs1435212159	RCV000650154\|RCV002461964;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056380	140056380	5:g.140056380G>C	ClinGen:CA446804093	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu)	3035	HARS1	Uncertain significance	rs1758395666	RCV001347407;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056381	140056381	140056381	-
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys)	3035	HARS1	Uncertain significance	rs1371763515	RCV000519456\|RCV001240270;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056388	140056388	5:g.140056388C>T	ClinGen:CA361251547	CN169374 not specified;
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln)	3035	HARS1	Uncertain significance	-1	RCV001362470;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056402	140056402	140056402	-
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)	3035	HARS1	Uncertain significance	rs1562005331	RCV000707325;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056405	140056405	5:g.140056405G>A	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)	3035	HARS1	Uncertain significance	rs1370029240	RCV000650141;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056424	140056424	5:g.140056424C>A	ClinGen:CA361251751	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)	3035	HARS1	Uncertain significance	rs1370029240	RCV001055667;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056424	140056424	5:g.140056424C>T	-
NM_002109.6(HARS1):c.1007A>G (p.Tyr336Cys)	3035	HARS1	Uncertain significance	-1	RCV002237443;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056426	140056426	140056426	-
NM_002109.6(HARS1):c.1000G>A (p.Val334Met)	3035	HARS1	Uncertain significance	rs1554106875	RCV000650147;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056433	140056433	NC_000005.9:g.140056433C>T	ClinGen:CA361251849	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)	3035	HARS1	Uncertain significance	-1	RCV002928386;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056439	140056439	NC_000005.9:g.140056439T>C	-
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys)	3035	HARS1	Uncertain significance	rs1554106881	RCV000515533\|RCV002527442;	N	MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056444	140056444	NC_000005.9:g.140056444T>C	ClinGen:CA361251948	C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.981G>T (p.Gly327=)	3035	HARS1	Likely benign	rs1758401892	RCV001232278;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056452	140056452	5:g.140056452C>A	-
NM_002109.6(HARS1):c.976C>A (p.Arg326=)	3035	HARS1	Likely benign	-1	RCV001481990;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056457	140056457	140056457	-
NM_002109.6(HARS1):c.976C>T (p.Arg326Ter)	3035	HARS1	Uncertain significance	-1	RCV001551220\|RCV002568330;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056457	140056457	140056457	-
NM_002109.6(HARS1):c.965del (p.Leu322fs)	3035	HARS1	Uncertain significance	-1	RCV002237444;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056468	140056468	140056467	-
NM_002109.6(HARS1):c.963C>T (p.Asp321=)	3035	HARS1	Likely benign	-1	RCV001410620;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056470	140056470	140056470	-
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe)	3035	HARS1	Uncertain significance	rs910919096	RCV001309127;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056477	140056477	140056477	-
NM_002109.6(HARS1):c.954C>T (p.Ile318=)	3035	HARS1	Likely benign	-1	RCV002237445;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056479	140056479	140056479	-
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)	3035	HARS1	Uncertain significance	-1	RCV002701229;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056481	140056481	NC_000005.9:g.140056481T>A	-
NM_002109.6(HARS1):c.952-3C>A	3035	HARS1	Uncertain significance	-1	RCV001755629\|RCV002241579;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056484	140056484	140056484	-
NM_002109.6(HARS1):c.952-4A>G	3035	HARS1	Likely benign	-1	RCV001492172;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056485	140056485	140056485	-
NM_002109.6(HARS1):c.952-6C>T	3035	HARS1	Likely benign	-1	RCV003059050;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056487	140056487	NC_000005.9:g.140056487G>A	-
NM_002109.6(HARS1):c.951+19G>A	3035	HARS1	Benign	-1	RCV001516158\|RCV001685390\|RCV002506613;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333; MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056555	140056555	140056555	-
NM_002109.6(HARS1):c.951+18C>T	3035	HARS1	Likely benign	-1	RCV001434037;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056556	140056556	140056556	-
NM_002109.6(HARS1):c.951+12T>C	3035	HARS1	Likely benign	-1	RCV002631184;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056562	140056562	NC_000005.9:g.140056562A>G	-
NM_002109.6(HARS1):c.951+8A>C	3035	HARS1	Likely benign	-1	RCV001453920;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056566	140056566	140056566	-
NM_002109.6(HARS1):c.951+5G>T	3035	HARS1	Uncertain significance	-1	RCV002237446;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056569	140056569	140056569	-
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)	3035	HARS1	Uncertain significance	-1	RCV002766124;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056581	140056582	NC_000005.9:g.140056581_140056582delinsAA	-
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)	3035	HARS1	Uncertain significance	rs777214329	RCV001339862;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056584	140056584	140056584	-
NM_002109.6(HARS1):c.933A>G (p.Leu311=)	3035	HARS1	Likely benign	-1	RCV002237447;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056592	140056592	140056592	-
NM_002109.6(HARS1):c.924C>T (p.Tyr308=)	3035	HARS1	Likely benign	-1	RCV001470364;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056601	140056601	140056601	-
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)	3035	HARS1	Uncertain significance	rs794727969	RCV000180581\|RCV000810871;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056603	140056614	NC_000005.9:g.140056606_140056617del	ClinGen:CA248073	CN169374 not specified;
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)	3035	HARS1	Uncertain significance	-1	RCV002725264;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056612	140056612	NC_000005.9:g.140056612G>A	-
NM_002109.6(HARS1):c.903C>T (p.Asp301=)	3035	HARS1	Benign/Likely benign	rs146835587	RCV000876280\|RCV001539863;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140056622	140056622	5:g.140056622G>A	-
NM_002109.6(HARS1):c.903C>A (p.Asp301Glu)	3035	HARS1	Uncertain significance	-1	RCV002843353;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056622	140056622	NC_000005.9:g.140056622G>T	-
NM_002109.6(HARS1):c.897G>C (p.Leu299=)	3035	HARS1	Likely benign	-1	RCV001452001;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056628	140056628	140056628	-
NM_002109.6(HARS1):c.885C>T (p.Ala295=)	3035	HARS1	Likely benign	-1	RCV001446870;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056640	140056640	140056640	-
NM_002109.6(HARS1):c.885C>G (p.Ala295_Leu296=)	3035	HARS1	Likely benign	-1	RCV002857543;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056640	140056640	NC_000005.9:g.140056640G>C	-
NM_002109.6(HARS1):c.882G>A (p.Gln294=)	3035	HARS1	Likely benign	-1	RCV001500427;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056643	140056643	140056643	-
NM_002109.6(HARS1):c.881A>C (p.Gln294Pro)	3035	HARS1	Uncertain significance	-1	RCV002237448;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056644	140056644	140056644	-
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu)	3035	HARS1	Uncertain significance	rs1379178692	RCV001217650;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056645	140056645	5:g.140056645G>C	-
NM_002109.6(HARS1):c.880C>A (p.Gln294Lys)	3035	HARS1	Uncertain significance	-1	RCV002756710;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056645	140056645	NC_000005.9:g.140056645G>T	-
NM_002109.6(HARS1):c.869C>G (p.Ser290Cys)	3035	HARS1	Uncertain significance	-1	RCV003011570;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056656	140056656	NC_000005.9:g.140056656G>C	-
NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)	3035	HARS1	Uncertain significance	-1	RCV003052461;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056663	140056663	NC_000005.9:g.140056663T>C	-
NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)	3035	HARS1	Uncertain significance	-1	RCV002671316;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056669	140056669	NC_000005.9:g.140056669C>T	-
NM_002109.6(HARS1):c.855G>A (p.Gln285=)	3035	HARS1	Likely benign	-1	RCV002237449;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056670	140056670	140056670	-
NM_002109.6(HARS1):c.852C>T (p.Leu284=)	3035	HARS1	Likely benign	-1	RCV001419344;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056673	140056673	140056673	-
NM_002109.6(HARS1):c.840G>A (p.Val280=)	3035	HARS1	Uncertain significance	-1	RCV002237450;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056685	140056685	140056685	-
NM_002109.6(HARS1):c.836T>A (p.Leu279Gln)	3035	HARS1	Uncertain significance	-1	RCV002634687;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056689	140056689	NC_000005.9:g.140056689A>T	-
NM_002109.6(HARS1):c.829G>A (p.Val277Ile)	3035	HARS1	Uncertain significance	rs763899763	RCV001316156;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056696	140056696	140056696	-
NM_002109.6(HARS1):c.827G>T (p.Gly276Val)	3035	HARS1	Uncertain significance	-1	RCV002862568;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056698	140056698	NC_000005.9:g.140056698C>A	-
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg)	3035	HARS1	Uncertain significance	-1	RCV001365815;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056699	140056699	140056699	-
NM_002109.6(HARS1):c.824-1G>A	3035	HARS1	Uncertain significance	-1	RCV003027404;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056702	140056702	NC_000005.9:g.140056702C>T	-
NM_002109.6(HARS1):c.824-3C>T	3035	HARS1	Uncertain significance	-1	RCV002947339;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056704	140056704	NC_000005.9:g.140056704G>A	-
NM_002109.6(HARS1):c.824-17del	3035	HARS1	Likely benign	-1	RCV002922834;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056718	140056718	NC_000005.9:g.140056718del	-
NM_002109.6(HARS1):c.823+6G>C	3035	HARS1	Uncertain significance	rs1758439013	RCV001345535;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056906	140056906	140056906	-
NM_002109.6(HARS1):c.819A>G (p.Gln273=)	3035	HARS1	Likely benign	-1	RCV002237451;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056916	140056916	140056916	-
NM_002109.6(HARS1):c.811G>A (p.Val271Ile)	3035	HARS1	Uncertain significance	rs149018062	RCV000818700\|RCV002473151;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140056924	140056924	5:g.140056924C>T	-
NM_002109.6(HARS1):c.802G>C (p.Gly268Arg)	3035	HARS1	Uncertain significance	-1	RCV002236499;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056933	140056933	140056933	-
NM_002109.6(HARS1):c.801T>G (p.Ile267Met)	3035	HARS1	Uncertain significance	-1	RCV003098945;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056934	140056934	NC_000005.9:g.140056934A>C	-
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr)	3035	HARS1	Uncertain significance	rs766324898	RCV002463126\|RCV002236500;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056935	140056935	140056935	-
NM_002109.6(HARS1):c.797G>A (p.Arg266His)	3035	HARS1	Uncertain significance	rs765223763	RCV000757351\|RCV001047038\|RCV002462121;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140056938	140056938	NC_000005.9:g.140056938C>T	-
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)	3035	HARS1	Uncertain significance	rs765223763	RCV001064198;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056938	140056938	5:g.140056938C>A	-
NM_002109.6(HARS1):c.796C>T (p.Arg266Cys)	3035	HARS1	Uncertain significance	-1	RCV002236501;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056939	140056939	140056939	-
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu)	3035	HARS1	Uncertain significance	rs1050247	RCV001246029;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056940	140056940	5:g.140056940G>C	-
NM_002109.6(HARS1):c.789G>A (p.Val263=)	3035	HARS1	Likely benign	-1	RCV001476612;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056946	140056946	140056946	-
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys)	3035	HARS1	Uncertain significance	rs1758442472	RCV001300553;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056951	140056951	140056951	-
NM_002109.6(HARS1):c.783T>G (p.Pro261_Glu262=)	3035	HARS1	Likely benign	-1	RCV002976720;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056952	140056952	NC_000005.9:g.140056952A>C	-
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)	3035	HARS1	Uncertain significance	rs1319398620	RCV000690481;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056953	140056953	5:g.140056953G>C	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.774C>T (p.Gly258_Leu259=)	3035	HARS1	Likely benign	-1	RCV003054057;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056961	140056961	NC_000005.9:g.140056961G>A	-
NM_002109.6(HARS1):c.771G>A (p.Lys257=)	3035	HARS1	Likely benign	-1	RCV002236502;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056964	140056964	140056964	-
NM_002109.6(HARS1):c.762G>A (p.Val254_Gly255=)	3035	HARS1	Likely benign	-1	RCV002972653;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056973	140056973	NC_000005.9:g.140056973C>T	-
NM_002109.6(HARS1):c.753T>C (p.Asn251_Glu252=)	3035	HARS1	Likely benign	-1	RCV002640535;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056982	140056982	NC_000005.9:g.140056982A>G	-
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr)	3035	HARS1	Uncertain significance	rs748594458	RCV001337580;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056983	140056983	140056983	-
NM_002109.6(HARS1):c.749A>G (p.Lys250Arg)	3035	HARS1	Uncertain significance	-1	RCV002237452;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140056986	140056986	140056986	-
NM_002109.6(HARS1):c.730G>A (p.Val244Met)	3035	HARS1	Uncertain significance	-1	RCV002966326;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057005	140057005	NC_000005.9:g.140057005C>T	-
NM_002109.6(HARS1):c.730-10G>C	3035	HARS1	Likely benign	rs1581505929	RCV000940276\|RCV001506723;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057015	140057015	5:g.140057015C>G	-
NM_002109.6(HARS1):c.730-10G>A	3035	HARS1	Likely benign	-1	RCV002647144;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057015	140057015	NC_000005.9:g.140057015C>T	-
NM_002109.6(HARS1):c.730-12C>G	3035	HARS1	Likely benign	-1	RCV002237453;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057017	140057017	140057017	-
NM_002109.6(HARS1):c.730-17G>A	3035	HARS1	Benign/Likely benign	rs189624055	RCV001520297\|RCV001586107;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140057022	140057022	140057022	-
NM_002109.6(HARS1):c.730-20A>G	3035	HARS1	Uncertain significance	-1	RCV003040774;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057025	140057025	NC_000005.9:g.140057025T>C	-
NM_002109.6(HARS1):c.729+20A>G	3035	HARS1	Likely benign	-1	RCV002690823;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057220	140057220	NC_000005.9:g.140057220T>C	-
NM_002109.6(HARS1):c.729+16C>T	3035	HARS1	Likely benign	-1	RCV003072945;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057224	140057224	NC_000005.9:g.140057224G>A	-
NM_002109.6(HARS1):c.729+12A>G	3035	HARS1	Uncertain significance	-1	RCV002237454;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057228	140057228	140057228	-
NM_002109.6(HARS1):c.729+3A>G	3035	HARS1	Uncertain significance	rs938453967	RCV000530096;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057237	140057237	NC_000005.9:g.140057237T>C	ClinGen:CA128377465	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg)	3035	HARS1	Uncertain significance	rs1053173778	RCV001308580;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057241	140057241	140057241	-
NM_002109.6(HARS1):c.726C>T (p.Asp242=)	3035	HARS1	Likely benign	-1	RCV001505799;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057243	140057243	140057243	-
NM_002109.6(HARS1):c.723G>A (p.Leu241=)	3035	HARS1	Likely benign	-1	RCV001434364;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057246	140057246	140057246	-
NM_002109.6(HARS1):c.721C>T (p.Leu241_Asp242=)	3035	HARS1	Benign	-1	RCV002914686;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057248	140057248	NC_000005.9:g.140057248G>A	-
NM_002109.6(HARS1):c.713T>C (p.Val238Ala)	3035	HARS1	Uncertain significance	rs536175170	RCV001319519;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057256	140057256	140057256	-
NM_002109.6(HARS1):c.695G>A (p.Arg232His)	3035	HARS1	Uncertain significance	rs550778711	RCV001071624;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057274	140057274	5:g.140057274C>T	-
NM_002109.6(HARS1):c.695G>T (p.Arg232Leu)	3035	HARS1	Uncertain significance	-1	RCV002663106;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057274	140057274	NC_000005.9:g.140057274C>A	-
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)	3035	HARS1	Conflicting interpretations of pathogenicity	rs186526524	RCV000179843\|RCV000556160\|RCV002460958;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140057275	140057275	5:g.140057275G>A	ClinGen:CA247145	CN169374 not specified;
NM_002109.6(HARS1):c.690G>A (p.Lys230=)	3035	HARS1	Likely benign	-1	RCV002237455;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057279	140057279	140057279	-
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg)	3035	HARS1	Uncertain significance	rs1416014791	RCV001320386;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057280	140057280	140057280	-
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)	3035	HARS1	Conflicting interpretations of pathogenicity	rs768076848	RCV000699134\|RCV001000572\|RCV001756220\|RCV002462039;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140057290	140057290	5:g.140057290A>C	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)	3035	HARS1	Uncertain significance	rs1758468780	RCV001072019;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057292	140057292	5:g.140057292A>T	-
NM_002109.6(HARS1):c.672_673del (p.Cys224fs)	3035	HARS1	Uncertain significance	rs1758469143	RCV001205399;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057296	140057297	5:g.140057296_140057297del	-
NM_002109.6(HARS1):c.669C>T (p.Ile223=)	3035	HARS1	Likely benign	-1	RCV001419532;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057300	140057300	140057300	-
NM_002109.6(HARS1):c.664G>A (p.Ala222Thr)	3035	HARS1	Uncertain significance	-1	RCV002814829;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057305	140057305	NC_000005.9:g.140057305C>T	-
NM_002109.6(HARS1):c.662T>C (p.Phe221Ser)	3035	HARS1	Uncertain significance	-1	RCV002237456;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057307	140057307	140057307	-
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)	3035	HARS1	Uncertain significance	rs769535360	RCV001049861;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057314	140057314	5:g.140057314C>T	-
NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)	3035	HARS1	Conflicting interpretations of pathogenicity	-1	RCV001419746\|RCV002225837;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140057316	140057316	140057316	-
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)	3035	HARS1	Uncertain significance	rs762921085	RCV001304061;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057319	140057319	140057319	-
NM_002109.6(HARS1):c.640C>T (p.Arg214Ter)	3035	HARS1	Uncertain significance	-1	RCV002653685;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057329	140057329	NC_000005.9:g.140057329G>A	-
NM_002109.6(HARS1):c.640C>A (p.Arg214_Arg215=)	3035	HARS1	Likely benign	-1	RCV002770378;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057329	140057329	NC_000005.9:g.140057329G>T	-
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)	3035	HARS1	Uncertain significance	rs1562008284	RCV000791804;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057330	140057330	5:g.140057330A>C	-
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn)	3035	HARS1	Uncertain significance	rs759634200	RCV001348276;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057332	140057332	140057332	-
NM_002109.6(HARS1):c.631-3C>T	3035	HARS1	Uncertain significance	-1	RCV002237457;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057341	140057341	140057341	-
NM_002109.6(HARS1):c.631-8C>T	3035	HARS1	Likely benign	-1	RCV002237458;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057346	140057346	140057346	-
NM_002109.6(HARS1):c.631-9T>G	3035	HARS1	Likely benign	-1	RCV002237459;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057347	140057347	140057347	-
NM_002109.6(HARS1):c.631-13T>C	3035	HARS1	Likely benign	-1	RCV002237460;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057351	140057351	140057351	-
NM_002109.6(HARS1):c.631-18T>G	3035	HARS1	Likely benign	-1	RCV002972521;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057356	140057356	NC_000005.9:g.140057356A>C	-
NM_002109.6(HARS1):c.631-19A>G	3035	HARS1	Likely benign	-1	RCV002237461;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057357	140057357	140057357	-
NM_002109.6(HARS1):c.630+12C>T	3035	HARS1	Likely benign	-1	RCV001497097;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057481	140057481	140057481	-
NM_002109.6(HARS1):c.630+8C>G	3035	HARS1	Uncertain significance	-1	RCV001364137;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057485	140057485	140057485	-
NM_002109.6(HARS1):c.630+7G>A	3035	HARS1	Likely benign	-1	RCV003056220;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057486	140057486	NC_000005.9:g.140057486C>T	-
NM_002109.6(HARS1):c.630+6A>G	3035	HARS1	Uncertain significance	-1	RCV003062786;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057487	140057487	NC_000005.9:g.140057487T>C	-
NM_002109.6(HARS1):c.627C>T (p.Val209=)	3035	HARS1	Likely benign	-1	RCV002237462;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057496	140057496	140057496	-
NM_002109.6(HARS1):c.622C>T (p.Leu208=)	3035	HARS1	Likely benign	rs754094386	RCV000922567;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057501	140057501	5:g.140057501G>A	-
NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)	3035	HARS1	Uncertain significance	-1	RCV002620304\|RCV002620303;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057507	140057507	NC_000005.9:g.140057507C>T	-
NM_002109.6(HARS1):c.615C>T (p.Gly205=)	3035	HARS1	Conflicting interpretations of pathogenicity	-1	RCV001439913\|RCV001581131;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140057508	140057508	140057508	-
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)	3035	HARS1	Benign/Likely benign	rs147288996	RCV000217228\|RCV000541318\|RCV001636728;	N	MedGen:CN169374\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140057509	140057509	NC_000005.9:g.140057509C>T	ClinGen:CA3444059,UniProtKB:P12081#VAR_069023	CN169374 not specified;
NM_002109.6(HARS1):c.612A>G (p.Ile204Met)	3035	HARS1	Uncertain significance	rs1562008815	RCV000699267\|RCV002462042;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140057511	140057511	5:g.140057511T>C	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.611T>C (p.Ile204Thr)	3035	HARS1	Uncertain significance	-1	RCV003010258;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057512	140057512	NC_000005.9:g.140057512A>G	-
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter)	3035	HARS1	Uncertain significance	rs780654800	RCV001364152;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057521	140057521	NC_000005.9:g.140057521G>C	-
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys)	3035	HARS1	Uncertain significance	rs747711899	RCV001232549;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057534	140057534	5:g.140057534C>T	-
NM_002109.6(HARS1):c.588C>T (p.Cys196=)	3035	HARS1	Benign	rs2230361	RCV000214979\|RCV001518405;	N	MedGen:CN169374\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057535	140057535	NC_000005.9:g.140057535G>A	ClinGen:CA3444063	CN169374 not specified;
NM_002109.6(HARS1):c.585G>C (p.Met195Ile)	3035	HARS1	Uncertain significance	-1	RCV002237463;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057538	140057538	140057538	-
NM_002109.6(HARS1):c.584T>C (p.Met195Thr)	3035	HARS1	Uncertain significance	-1	RCV002237464;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057539	140057539	140057539	-
NM_002109.6(HARS1):c.581T>C (p.Ile194Thr)	3035	HARS1	Uncertain significance	-1	RCV001590552\|RCV002241381;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057542	140057542	140057542	-
NM_002109.6(HARS1):c.562G>C (p.Asp188His)	3035	HARS1	Uncertain significance	rs1758489449	RCV001322032;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057561	140057561	140057561	-
NM_002109.6(HARS1):c.561T>C (p.Pro187=)	3035	HARS1	Likely benign	-1	RCV001500861;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057562	140057562	140057562	-
NM_002109.6(HARS1):c.553A>G (p.Met185Val)	3035	HARS1	Uncertain significance	-1	RCV002606448;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057570	140057570	NC_000005.9:g.140057570T>C	-
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)	3035	HARS1	Uncertain significance	-1	RCV002838418;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057570	140057570	NC_000005.9:g.140057570T>A	-
NM_002109.6(HARS1):c.537_549del (p.Gly180fs)	3035	HARS1	Uncertain significance	-1	RCV002236503;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057574	140057586	140057573	-
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)	3035	HARS1	Uncertain significance	rs1758491184	RCV001054085\|RCV001552239;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140057578	140057578	5:g.140057578A>C	-
NM_002109.6(HARS1):c.532A>G (p.Ile178Val)	3035	HARS1	Uncertain significance	-1	RCV001362617;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057591	140057591	140057591	-
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)	3035	HARS1	Uncertain significance	rs745780898	RCV000650151;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057596	140057596	NC_000005.9:g.140057596A>T	ClinGen:CA361256003	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.523-4G>A	3035	HARS1	Likely benign	-1	RCV003034079;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057604	140057604	NC_000005.9:g.140057604C>T	-
NM_002109.6(HARS1):c.523-18C>T	3035	HARS1	Likely benign	-1	RCV002746635;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140057618	140057618	NC_000005.9:g.140057618G>A	-
NC_000005.9:g.(?_140058567)_(140062824_?)dup	3035	HARS1	Uncertain significance	-1	RCV002237383;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058567	140062824	-1	-
NM_002109.6(HARS1):c.522+18G>A	3035	HARS1	Likely benign	-1	RCV003052612;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058569	140058569	NC_000005.9:g.140058569C>T	-
NM_002109.6(HARS1):c.522+17C>T	3035	HARS1	Likely benign	-1	RCV002236504;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058570	140058570	140058570	-
NM_002109.6(HARS1):c.522+8T>C	3035	HARS1	Likely benign	-1	RCV001505551;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058579	140058579	140058579	-
NM_002109.6(HARS1):c.522+1G>A	3035	HARS1	Uncertain significance	-1	RCV002236505;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058586	140058586	140058586	-
NC_000005.10:g.(?_140679002)_(140683219_?)dup	3035	HARS1	Uncertain significance	-1	RCV001031985;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058587	140062804	-1	-
NM_002109.6(HARS1):c.519G>A (p.Gln173=)	3035	HARS1	Likely benign	-1	RCV001418709;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058590	140058590	140058590	-
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)	3035	HARS1	Uncertain significance	-1	RCV003010413;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058594	140058594	NC_000005.9:g.140058594T>C	-
NM_002109.6(HARS1):c.507G>A (p.Arg169=)	3035	HARS1	Likely benign	-1	RCV002237465;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058602	140058602	140058602	-
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln)	3035	HARS1	Uncertain significance	-1	RCV002237466;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058603	140058603	140058603	-
NM_002109.6(HARS1):c.501A>T (p.Arg167=)	3035	HARS1	Likely benign	-1	RCV001473953;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058608	140058608	140058608	-
NM_002109.6(HARS1):c.494G>A (p.Arg165His)	3035	HARS1	Uncertain significance	rs373522589	RCV001318384\|RCV002462929;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140058615	140058615	140058615	-
NM_002109.6(HARS1):c.493C>T (p.Arg165Cys)	3035	HARS1	Uncertain significance	-1	RCV002237467;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058616	140058616	140058616	-
NM_002109.6(HARS1):c.485C>T (p.Ala162Val)	3035	HARS1	Uncertain significance	-1	RCV002700424;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058624	140058624	NC_000005.9:g.140058624G>A	-
NM_002109.6(HARS1):c.480C>T (p.Asn160_Pro161=)	3035	HARS1	Likely benign	-1	RCV003111926;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058629	140058629	NC_000005.9:g.140058629G>A	-
NM_002109.6(HARS1):c.477T>C (p.Asp159=)	3035	HARS1	Likely benign	-1	RCV001431461;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058632	140058632	140058632	-
NM_002109.6(HARS1):c.472C>T (p.Arg158Trp)	3035	HARS1	Uncertain significance	-1	RCV002237468;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058637	140058637	140058637	-
NM_002109.6(HARS1):c.465A>G (p.Val155=)	3035	HARS1	Likely benign	rs1202503765	RCV000550862\|RCV002461317;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140058644	140058644	NC_000005.9:g.140058644T>C	ClinGen:CA446640433	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.465A>T (p.Val155_Tyr156=)	3035	HARS1	Uncertain significance	-1	RCV003019762;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058644	140058644	NC_000005.9:g.140058644T>A	-
NM_002109.6(HARS1):c.464T>G (p.Val155Gly)	3035	HARS1	Conflicting interpretations of pathogenicity	rs1239341211	RCV000515539\|RCV001214564\|RCV002461268;	N	MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140058645	140058645	5:g.140058645A>C	ClinGen:CA361257029	C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)	3035	HARS1	Uncertain significance	rs746887565	RCV000650150;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058652	140058652	NC_000005.9:g.140058652C>A	ClinGen:CA361257060	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.454A>G (p.Ile152Val)	3035	HARS1	Uncertain significance	-1	RCV002634080;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058655	140058655	NC_000005.9:g.140058655T>C	-
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys)	3035	HARS1	Uncertain significance	rs138035024	RCV001230225\|RCV002462852;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140058664	140058664	5:g.140058664G>A	-
NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)	3035	HARS1	Uncertain significance	-1	RCV003036778;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058664	140058665	NC_000005.9:g.140058666_140058667dup	-
NM_002109.6(HARS1):c.437_439dup (p.Asn146dup)	3035	HARS1	Conflicting interpretations of pathogenicity	-1	RCV002237469\|RCV002463127;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140058669	140058670	140058669	-
NM_002109.6(HARS1):c.437A>G (p.Asn146Ser)	3035	HARS1	Uncertain significance	-1	RCV002237470;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058672	140058672	140058672	-
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln)	3035	HARS1	Uncertain significance	rs1408195908	RCV001295177\|RCV002462907;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140058678	140058678	140058678	-
NM_002109.6(HARS1):c.423G>T (p.Met141Ile)	3035	HARS1	Uncertain significance	-1	RCV003076382;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058686	140058686	NC_000005.9:g.140058686C>A	-
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	3035	HARS1	Conflicting interpretations of pathogenicity	rs191391414	RCV000033152\|RCV000514458\|RCV000650143\|RCV002247415\|RCV002460895;	N	MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333\|MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	5	140058699	140058699	5:g.140058699C>T	ClinGen:CA130727,UniProtKB:P12081#VAR_069022,OMIM:142810.0002	C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)	3035	HARS1	Uncertain significance	rs1408800953	RCV001068515\|RCV003132208;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140058700	140058700	5:g.140058700G>A	-
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)	3035	HARS1	Uncertain significance	rs1334234821	RCV000811811;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058702	140058702	5:g.140058702G>A	-
NM_002109.6(HARS1):c.401C>G (p.Pro134Arg)	3035	HARS1	Uncertain significance	-1	RCV002237471;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058708	140058708	140058708	-
NM_002109.6(HARS1):c.398T>A (p.Val133Asp)	3035	HARS1	Uncertain significance	-1	RCV002237472;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058711	140058711	140058711	-
NM_002109.6(HARS1):c.398T>C (p.Val133Ala)	3035	HARS1	Uncertain significance	-1	RCV002806924;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058711	140058711	NC_000005.9:g.140058711A>G	-
NM_002109.6(HARS1):c.397-11T>G	3035	HARS1	Likely benign	-1	RCV002237473;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058723	140058723	140058723	-
NM_002109.6(HARS1):c.397-12C>G	3035	HARS1	Likely benign	-1	RCV002237474;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140058724	140058724	140058724	-
NM_002109.6(HARS1):c.396+20C>T	3035	HARS1	Benign	-1	RCV002237475;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059353	140059353	140059353	-
NM_002109.6(HARS1):c.396+14C>T	3035	HARS1	Likely benign	-1	RCV002237476;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059359	140059359	140059359	-
NM_002109.6(HARS1):c.396+9C>T	3035	HARS1	Likely benign	-1	RCV003088063;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059364	140059364	NC_000005.9:g.140059364G>A	-
NM_002109.6(HARS1):c.390C>T (p.Asp130=)	3035	HARS1	Likely benign	rs754863405	RCV001394493\|RCV002461094;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140059379	140059379	NC_000005.9:g.140059379G>A	ClinGen:CA3444126	CN033130 500004 Retinitis pigmentosa-deafness syndrome;
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)	3035	HARS1	Uncertain significance	-1	RCV002872081;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059381	140059381	NC_000005.9:g.140059381C>T	-
NM_002109.6(HARS1):c.386A>G (p.Tyr129Cys)	3035	HARS1	Uncertain significance	-1	RCV002587277;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059383	140059383	NC_000005.9:g.140059383T>C	-
NM_002109.6(HARS1):c.383G>A (p.Arg128His)	3035	HARS1	Uncertain significance	rs748062451	RCV001226266;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059386	140059386	5:g.140059386C>T	-
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)	3035	HARS1	Conflicting interpretations of pathogenicity	rs138582560	RCV000540562\|RCV001567367\|RCV002461095;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140059387	140059387	NC_000005.9:g.140059387G>A	ClinGen:CA3444129	CN033130 500004 Retinitis pigmentosa-deafness syndrome;
NM_002109.6(HARS1):c.352_375del (p.Lys118_Leu125del)	3035	HARS1	Uncertain significance	-1	RCV002237477;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059394	140059417	140059393	-
NM_002109.6(HARS1):c.369G>T (p.Glu123Asp)	3035	HARS1	Uncertain significance	-1	RCV002236506;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059400	140059400	140059400	-
NM_002109.6(HARS1):c.368A>C (p.Glu123Ala)	3035	HARS1	Uncertain significance	-1	RCV002236507;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059401	140059401	140059401	-
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)	3035	HARS1	Likely benign	rs749493279	RCV000953789;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059405	140059405	5:g.140059405C>T	-
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp)	3035	HARS1	Uncertain significance	rs749493279	RCV001211453;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059405	140059405	5:g.140059405C>A	-
NM_002109.6(HARS1):c.363C>T (p.Gly121=)	3035	HARS1	Uncertain significance	rs372293095	RCV001350059;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059406	140059406	140059406	-
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr)	3035	HARS1	Uncertain significance	rs1758612647	RCV001233100;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059414	140059414	5:g.140059414C>A	-
NM_002109.6(HARS1):c.349C>G (p.Leu117Val)	3035	HARS1	Uncertain significance	rs1758613182	RCV001232554;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059420	140059420	5:g.140059420G>C	-
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg)	3035	HARS1	Uncertain significance	-1	RCV001809096\|RCV002541478;	N	MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059434	140059434	140059434	-
NM_002109.6(HARS1):c.317A>G (p.Lys106Arg)	3035	HARS1	Uncertain significance	-1	RCV002236508;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059452	140059452	140059452	-
NM_002109.6(HARS1):c.307C>G (p.Leu103Val)	3035	HARS1	Uncertain significance	-1	RCV002236509;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059462	140059462	140059462	-
NM_002109.6(HARS1):c.301-12T>C	3035	HARS1	Likely benign	-1	RCV002995928;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059480	140059480	NC_000005.9:g.140059480A>G	-
NM_002109.6(HARS1):c.301-13A>G	3035	HARS1	Likely benign	-1	RCV002237478;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140059481	140059481	140059481	-
NM_002109.6(HARS1):c.300+138G>A	3035	HARS1	Benign	-1	RCV001518406\|RCV001535118;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140062547	140062547	140062547	-
NM_002109.6(HARS1):c.300+15A>G	3035	HARS1	Likely benign	-1	RCV002237479;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062670	140062670	140062670	-
NM_002109.6(HARS1):c.300+9T>C	3035	HARS1	Likely benign	-1	RCV003036291;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062676	140062676	NC_000005.9:g.140062676A>G	-
NM_002109.6(HARS1):c.300G>A (p.Lys100_Glu101=)	3035	HARS1	Uncertain significance	-1	RCV003042271;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062685	140062685	NC_000005.9:g.140062685C>T	-
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)	3035	HARS1	Uncertain significance	rs1758818266	RCV001050324;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062689	140062689	5:g.140062689A>C	-
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter)	3035	HARS1	Uncertain significance	rs1758818618	RCV001216183;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062698	140062699	NC_000005.9:g.140062698_140062699delinsTA	-
NM_002109.6(HARS1):c.286G>A (p.Val96Ile)	3035	HARS1	Uncertain significance	-1	RCV002237480;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062699	140062699	140062699	-
NM_002109.6(HARS1):c.262G>A (p.Gly88Ser)	3035	HARS1	Uncertain significance	-1	RCV002237481\|RCV003130695;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140062723	140062723	140062723	-
NM_002109.6(HARS1):c.261C>T (p.His87_Gly88=)	3035	HARS1	Likely benign	-1	RCV002619528;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062724	140062724	NC_000005.9:g.140062724G>A	-
NM_002109.6(HARS1):c.257G>A (p.Arg86His)	3035	HARS1	Uncertain significance	-1	RCV001508176\|RCV002241190\|RCV002463001;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140062728	140062728	140062728	-
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys)	3035	HARS1	Uncertain significance	-1	RCV002236390\|RCV002225157;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333	5	140062729	140062729	140062729	-
NM_002109.6(HARS1):c.245G>A (p.Arg82His)	3035	HARS1	Uncertain significance	-1	RCV002237482;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062740	140062740	140062740	-
NM_002109.6(HARS1):c.245G>C (p.Arg82Pro)	3035	HARS1	Uncertain significance	-1	RCV003053996;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062740	140062740	NC_000005.9:g.140062740C>G	-
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)	3035	HARS1	Uncertain significance	rs769340873	RCV000688810;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062741	140062741	5:g.140062741G>A	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.235G>A (p.Val79Ile)	3035	HARS1	Uncertain significance	rs1247876038	RCV001315643;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062750	140062750	140062750	-
NM_002109.6(HARS1):c.234C>T (p.Asp78=)	3035	HARS1	Benign/Likely benign	rs142994969	RCV000757352\|RCV001083144\|RCV002461912;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140062751	140062751	5:g.140062751G>A	ClinGen:CA3444157	CN169374 not specified;
NM_002109.6(HARS1):c.223_225del (p.Lys75del)	3035	HARS1	Uncertain significance	-1	RCV002237483;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062760	140062762	140062759	-
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)	3035	HARS1	Uncertain significance	rs774017621	RCV000650145\|RCV001001071;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374	5	140062765	140062765	5:g.140062765C>T	ClinGen:CA3444160	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.218G>A (p.Arg73His)	3035	HARS1	Uncertain significance	rs767325912	RCV000701068;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062767	140062767	5:g.140062767C>T	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)	3035	HARS1	Uncertain significance	-1	RCV002633743;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062768	140062768	NC_000005.9:g.140062768G>A	-
NM_002109.6(HARS1):c.207G>C (p.Gln69His)	3035	HARS1	Uncertain significance	-1	RCV002237484;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062778	140062778	140062778	-
NM_002109.6(HARS1):c.205C>T (p.Gln69Ter)	3035	HARS1	Uncertain significance	-1	RCV002237485;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062780	140062780	140062780	-
NM_002109.6(HARS1):c.205C>A (p.Gln69Lys)	3035	HARS1	Uncertain significance	-1	RCV002238013\|RCV002253998;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140062780	140062780	140062780	-
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)	3035	HARS1	Uncertain significance	rs753788498	RCV000684911;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062782	140062782	5:g.140062782C>T	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)	3035	HARS1	Uncertain significance	rs757279674	RCV001240386\|RCV001644957;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600, Orphanet:316226	5	140062783	140062783	5:g.140062783G>A	-
NM_002109.6(HARS1):c.200C>T (p.Pro67Leu)	3035	HARS1	Uncertain significance	rs1758824887	RCV001266787\|RCV002241810;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062785	140062785	5:g.140062785G>A	-
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)	3035	HARS1	Uncertain significance	rs1581516557	RCV000806623;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062786	140062786	5:g.140062786G>A	-
NM_002109.6(HARS1):c.194A>G (p.Tyr65Cys)	3035	HARS1	Uncertain significance	-1	RCV002236510;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062791	140062791	140062791	-
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys)	3035	HARS1	Uncertain significance	rs1758827286	RCV001208952;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062797	140062797	5:g.140062797C>T	-
NM_002109.6(HARS1):c.181-8A>C	3035	HARS1	Likely benign	-1	RCV002236511;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062812	140062812	140062812	-
NM_002109.6(HARS1):c.181-15G>C	3035	HARS1	Benign	-1	RCV001520198;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140062819	140062819	140062819	-
NM_002109.6(HARS1):c.180+20G>C	3035	HARS1	Likely benign	-1	RCV002615457;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070420	140070420	NC_000005.9:g.140070420C>G	-
NM_002109.6(HARS1):c.180+16T>G	3035	HARS1	Likely benign	-1	RCV002236512;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070424	140070424	140070424	-
NM_002109.6(HARS1):c.180+12C>T	3035	HARS1	Likely benign	-1	RCV002815193;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070428	140070428	NC_000005.9:g.140070428G>A	-
NM_002109.6(HARS1):c.180+10T>C	3035	HARS1	Likely benign	-1	RCV002898852;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070430	140070430	NC_000005.9:g.140070430A>G	-
NM_002109.6(HARS1):c.180+8C>A	3035	HARS1	Likely benign	-1	RCV001454431;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070432	140070432	140070432	-
NM_002109.6(HARS1):c.180+4A>T	3035	HARS1	Uncertain significance	-1	RCV002236513;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070436	140070436	140070436	-
NM_002109.6(HARS1):c.180G>A (p.Lys60_Gly61=)	3035	HARS1	Uncertain significance	-1	RCV002866997;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070440	140070440	NC_000005.9:g.140070440C>T	-
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)	3035	HARS1	Uncertain significance	-1	RCV003051647;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070442	140070442	NC_000005.9:g.140070442T>G	-
NM_002109.6(HARS1):c.177C>T (p.Pro59=)	3035	HARS1	Likely benign	-1	RCV001459312;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070443	140070443	140070443	-
NM_002109.6(HARS1):c.175C>T (p.Pro59Ser)	3035	HARS1	Uncertain significance	-1	RCV002238014;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070445	140070445	140070445	-
NM_002109.6(HARS1):c.174C>T (p.Thr58=)	3035	HARS1	Likely benign	rs761695061	RCV000878378\|RCV001434915;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070446	140070446	5:g.140070446G>A	-
NM_002109.6(HARS1):c.174C>A (p.Thr58=)	3035	HARS1	Likely benign	rs761695061	RCV002545909;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070446	140070446	5:g.140070446G>T	-
NM_002109.6(HARS1):c.174C>G (p.Thr58=)	3035	HARS1	Likely benign	-1	RCV001433964\|RCV001449838;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374	5	140070446	140070446	140070446	-
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)	3035	HARS1	Uncertain significance	-1	RCV002633196;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070450	140070450	NC_000005.9:g.140070450T>C	-
NM_002109.6(HARS1):c.165G>A (p.Val55=)	3035	HARS1	Likely benign	-1	RCV001411026;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070455	140070455	140070455	-
NM_002109.6(HARS1):c.159A>G (p.Lys53=)	3035	HARS1	Uncertain significance	rs1759375118	RCV001060785;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070461	140070461	5:g.140070461T>C	-
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)	3035	HARS1	Likely benign	rs201398055	RCV000954564;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070465	140070465	5:g.140070465T>G	-
NM_002109.6(HARS1):c.149G>A (p.Ser50Asn)	3035	HARS1	Uncertain significance	-1	RCV002613124;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070471	140070471	NC_000005.9:g.140070471C>T	-
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)	3035	HARS1	Uncertain significance	rs1759376273	RCV001053028;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070478	140070478	5:g.140070478C>T	-
NM_002109.6(HARS1):c.132G>A (p.Gln44=)	3035	HARS1	Likely benign	-1	RCV001449300;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070488	140070488	140070488	-
NM_002109.6(HARS1):c.115C>G (p.Leu39Val)	3035	HARS1	Uncertain significance	rs201729757	RCV001208199;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070505	140070505	5:g.140070505G>C	-
NM_002109.6(HARS1):c.115C>T (p.Leu39=)	3035	HARS1	Likely benign	-1	RCV002238015;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070505	140070505	140070505	-
NM_002109.6(HARS1):c.105G>A (p.Val35=)	3035	HARS1	Likely benign	-1	RCV002238016;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070515	140070515	140070515	-
NM_002109.6(HARS1):c.104T>C (p.Val35Ala)	3035	HARS1	Uncertain significance	-1	RCV002238017\|RCV003089229;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140070516	140070516	140070516	-
NM_002109.6(HARS1):c.103G>A (p.Val35Met)	3035	HARS1	Conflicting interpretations of pathogenicity	rs144588417	RCV000650142\|RCV001584068\|RCV002461096;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140070517	140070517	NC_000005.9:g.140070517C>T	ClinGen:CA3444202	CN033130 500004 Retinitis pigmentosa-deafness syndrome;
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del)	3035	HARS1	Uncertain significance	-1	RCV001368586;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070517	140070519	140070516	-
NM_002109.6(HARS1):c.101A>T (p.Glu34Val)	3035	HARS1	Uncertain significance	-1	RCV003027488;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070519	140070519	NC_000005.9:g.140070519T>A	-
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln)	3035	HARS1	Uncertain significance	rs377739193	RCV001301604;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070520	140070520	140070520	-
NM_002109.6(HARS1):c.93C>G (p.Ile31Met)	3035	HARS1	Uncertain significance	-1	RCV002238018;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070527	140070527	140070527	-
NM_002109.6(HARS1):c.93C>T (p.Ile31_Glu32=)	3035	HARS1	Likely benign	-1	RCV002947666;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070527	140070527	NC_000005.9:g.140070527G>A	-
NM_002109.6(HARS1):c.91-7T>C	3035	HARS1	Likely benign	-1	RCV001470026;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070536	140070536	140070536	-
NM_002109.6(HARS1):c.91-13T>A	3035	HARS1	Likely benign	-1	RCV002790209;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070542	140070542	NC_000005.9:g.140070542A>T	-
NM_002109.6(HARS1):c.91-17del	3035	HARS1	Benign	-1	RCV001520622;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070546	140070546	140070545	-
NM_002109.6(HARS1):c.91-17C>A	3035	HARS1	Likely benign	-1	RCV002238019;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070546	140070546	140070546	-
NM_002109.6(HARS1):c.90+18G>A	3035	HARS1	Likely benign	-1	RCV002588301;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070782	140070782	NC_000005.9:g.140070782C>T	-
NM_002109.6(HARS1):c.90+17del	3035	HARS1	Likely benign	-1	RCV002238020;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070783	140070783	140070782	-
NM_002109.6(HARS1):c.90+16C>T	3035	HARS1	Likely benign	-1	RCV002238021;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070784	140070784	140070784	-
NM_002109.6(HARS1):c.90+14A>C	3035	HARS1	Likely benign	-1	RCV002238022;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070786	140070786	140070786	-
NM_002109.6(HARS1):c.90+11G>A	3035	HARS1	Likely benign	-1	RCV002994127;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070789	140070789	NC_000005.9:g.140070789C>T	-
NM_002109.6(HARS1):c.90+5G>A	3035	HARS1	Uncertain significance	-1	RCV002238023;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070795	140070795	140070795	-
NM_002109.6(HARS1):c.90+4A>C	3035	HARS1	Uncertain significance	rs776405841	RCV001240042;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070796	140070796	5:g.140070796T>G	-
NM_002109.6(HARS1):c.90+3G>A	3035	HARS1	Uncertain significance	rs1759409258	RCV001324652;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070797	140070797	140070797	-
NM_002109.6(HARS1):c.90+1G>C	3035	HARS1	Conflicting interpretations of pathogenicity	rs1554109203	RCV000659027\|RCV000660455\|RCV000807497;	N	MedGen:CN517202\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504; MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625, Orphanet:488333\|MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070799	140070799	NC_000005.9:g.140070799C>G	-	C4225265 616625 Charcot-Marie-Tooth disease, axonal, type 2w;
NM_002109.6(HARS1):c.90+1G>A	3035	HARS1	Uncertain significance	-1	RCV003041489;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070799	140070799	NC_000005.9:g.140070799C>T	-
NM_002109.6(HARS1):c.88C>A (p.Leu30Met)	3035	HARS1	Uncertain significance	rs1247070065	RCV000686860;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070802	140070802	5:g.140070802G>T	-	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)	3035	HARS1	Uncertain significance	-1	RCV002975211;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070810	140070810	NC_000005.9:g.140070810C>T	-
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)	3035	HARS1	Uncertain significance	-1	RCV003040110;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070816	140070816	NC_000005.9:g.140070816T>C	-
NM_002109.6(HARS1):c.72G>A (p.Gln24=)	3035	HARS1	Likely benign	rs148516171	RCV000650157\|RCV001565512\|RCV002461966;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140070818	140070818	NC_000005.9:g.140070818C>T	ClinGen:CA3444227	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)	3035	HARS1	Uncertain significance	rs1759411593	RCV001041263;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070828	140070828	5:g.140070828A>C	-
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)	3035	HARS1	Uncertain significance	rs762976181	RCV000801444;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070829	140070829	5:g.140070829G>A	-
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)	3035	HARS1	Uncertain significance	-1	RCV002785283;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070832	140070832	NC_000005.9:g.140070832C>T	-
NM_002109.6(HARS1):c.52G>A (p.Val18Met)	3035	HARS1	Uncertain significance	rs774632798	RCV000524753\|RCV001001086;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374	5	140070838	140070838	5:g.140070838C>T	ClinGen:CA3444230	C3281066 614504 Usher syndrome, type 3B;
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)	3035	HARS1	Uncertain significance	rs1394473077	RCV001211202\|RCV002561755;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MeSH:D030342,MedGen:C0950123	5	140070847	140070847	5:g.140070847C>T	-
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)	3035	HARS1	Benign	rs117579809	RCV000874252\|RCV001615072;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN517202	5	140070850	140070850	5:g.140070850G>T	-
NM_002109.6(HARS1):c.39T>G (p.Leu13=)	3035	HARS1	Likely benign	rs1453807986	RCV000954813;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070851	140070851	5:g.140070851A>C	-
NM_002109.6(HARS1):c.28C>T (p.Leu10_Val11=)	3035	HARS1	Likely benign	-1	RCV002676624;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070862	140070862	NC_000005.9:g.140070862G>A	-
NM_002109.6(HARS1):c.24G>A (p.Glu8_Glu9=)	3035	HARS1	Likely benign	-1	RCV003082974;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070866	140070866	NC_000005.9:g.140070866C>T	-
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)	3035	HARS1	Uncertain significance	rs1461976080	RCV001237374;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070873	140070873	5:g.140070873G>C	-
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)	3035	HARS1	Conflicting interpretations of pathogenicity	rs78741041	RCV000525701\|RCV000606943\|RCV001573133\|RCV002461316;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	140070876	140070876	NC_000005.9:g.140070876G>T	ClinGen:CA3444238	CN169374 not specified;
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)	3035	HARS1	Uncertain significance	rs1759420210	RCV001297651;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070886	140070886	140070886	-
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)	3035	HARS1	Uncertain significance	rs1759420438	RCV001214963;	N	MONDO:MONDO:0013788,MedGen:C3281066,OMIM:614504	5	140070888	140070888	5:g.140070888A>G	-

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