HARS2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 226

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 351247	NM_002109.6(HARS1):c.-64C>T	HARS1, HARS2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 390694	NM_012208.4(HARS2):c.-32C>T	LOC119407423, HARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 228737	NM_012208.4(HARS2):c.-4C>G	HARS2, LOC119407423	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 517388	NM_012208.4(HARS2):c.-2C>T	HARS2, LOC119407423	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 137536	NM_012208.4(HARS2):c.7C>G (p.Leu3Val)	HARS2, LOC119407423 (L3V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2067878	NM_012208.4(HARS2):c.69del (p.Cys24fs)	HARS2, LOC119407423 (C24fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 635273	NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)	HARS2, LOC119407423 (C24*)	Single nucleotide variant (nonsense +2 more)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 2153560	NM_012208.4(HARS2):c.74_100del (p.Ala25_Gln34delinsGlu)	HARS2, LOC119407423	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 2313492	NM_012208.4(HARS2):c.76T>G (p.Ser26Ala)	HARS2, LOC119407423 (S26A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2093623	NM_012208.4(HARS2):c.78G>A (p.Ser26=)	HARS2, LOC119407423	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2136282	NM_012208.4(HARS2):c.94C>G (p.Arg32Gly)	LOC119407423, HARS2 (R32G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2782844	NM_012208.4(HARS2):c.95G>T (p.Arg32Leu)	HARS2, LOC119407423 (R32L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2544290	NM_012208.4(HARS2):c.100C>A (p.Gln34Lys)	HARS2, LOC119407423 (Q34K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1187517	NM_012208.4(HARS2):c.109-296G>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215658	NM_012208.4(HARS2):c.109-243dup	HARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1221130	NM_012208.4(HARS2):c.109-243del	HARS2	Deletion (intron variant)	not provided	GBenign
Select item 3048804	NM_012208.4(HARS2):c.109-111del	HARS2	Deletion (intron variant)	HARS2-related disorder	GLikely benign
Select item 3053102	NM_012208.4(HARS2):c.109-92G>A	HARS2	Single nucleotide variant (5 prime UTR variant +2 more)	HARS2-related disorder	GLikely benign
Select item 3031260	NM_012208.4(HARS2):c.114A>G (p.Ala38=)	HARS2	Single nucleotide variant (5 prime UTR variant +2 more)	HARS2-related disorder	GLikely benign
Select item 2793214	NM_012208.4(HARS2):c.124T>C (p.Leu42=)	HARS2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1176814	NM_012208.4(HARS2):c.125T>G (p.Leu42Ter)	HARS2 (L42* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 633638	NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)	HARS2 (L46Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome 2	GLikely pathogenic
Select item 228735	NM_012208.4(HARS2):c.145C>T (p.His49Tyr)	HARS2 (H49Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 214538	NM_012208.4(HARS2):c.151G>A (p.Glu51Lys)	HARS2 (E51K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 214536	NM_012208.4(HARS2):c.152A>G (p.Glu51Gly)	HARS2 (E51G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 228736	NM_012208.4(HARS2):c.165TAT[1] (p.Ile57del)	HARS2 (I57del +1 more)	Microsatellite (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 214542	NM_012208.4(HARS2):c.172A>G (p.Lys58Glu)	HARS2 (K58E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1707367	NM_012208.4(HARS2):c.174G>T (p.Lys58Asn)	HARS2 (K58N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 675851	NM_012208.4(HARS2):c.184-41T>G	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517888	NM_012208.4(HARS2):c.184-16T>C	HARS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1632877	NM_012208.4(HARS2):c.184-7T>G	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205814	NM_012208.4(HARS2):c.184-3C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2085053	NM_012208.4(HARS2):c.229del (p.Ile77fs)	HARS2 (I83fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2964113	NM_012208.4(HARS2):c.243_244insCTTT (p.Ile82fs)	HARS2 (I12fs +3 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2539045	NM_012208.4(HARS2):c.241G>T (p.Val81Phe)	HARS2 (V11F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208535	NM_012208.4(HARS2):c.245T>G (p.Ile82Ser)	HARS2 (I57S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 633640	NM_012208.4(HARS2):c.259C>T (p.Arg87Cys)	HARS2 (R87C +3 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 2991705	NM_012208.4(HARS2):c.272A>G (p.Lys91Arg)	HARS2 (K66R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2482506	NM_012208.4(HARS2):c.282C>A (p.Asp94Glu)	HARS2 (D24E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2795419	NM_012208.4(HARS2):c.303+20T>G	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276847	NM_012208.4(HARS2):c.303+34C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190427	NM_012208.4(HARS2):c.303+36C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192906	NM_012208.4(HARS2):c.304-25G>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987985	NM_012208.4(HARS2):c.304-17C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196249	NM_012208.4(HARS2):c.304-4dup	HARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1187578	NM_012208.4(HARS2):c.304-4A>G	HARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2486605	NM_012208.4(HARS2):c.308C>A (p.Thr103Asn)	HARS2 (T109N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1297062	NM_012208.4(HARS2):c.322T>C (p.Tyr108His)	HARS2 (Y108H +3 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 2	GUncertain significance
Select item 2327975	NM_012208.4(HARS2):c.323A>G (p.Tyr108Cys)	HARS2 (Y108C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2168774	NM_012208.4(HARS2):c.324T>G (p.Tyr108Ter)	HARS2 (Y38* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 137534	NM_012208.4(HARS2):c.324T>C (p.Tyr108=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome 2 +3 more	GBenign/Likely benign
Select item 3104243	NM_012208.4(HARS2):c.338G>A (p.Gly113Glu)	HARS2 (G119E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1580734	NM_012208.4(HARS2):c.342C>T (p.Leu114=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3104244	NM_012208.4(HARS2):c.345G>A (p.Met115Ile)	HARS2 (M115I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2967216	NM_012208.4(HARS2):c.352C>T (p.Leu118=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026808	NM_012208.4(HARS2):c.360T>A (p.Asp120Glu)	HARS2 (D120E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1253986	NM_012208.4(HARS2):c.371A>C (p.Glu124Ala)	HARS2 (E124A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825438	NM_012208.4(HARS2):c.381C>T (p.Ser127=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1306739	NM_012208.4(HARS2):c.385C>T (p.Arg129Cys)	HARS2 (R104C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1350913	NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys)	HARS2 (Y105C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1185123	NM_012208.4(HARS2):c.399+1G>A	HARS2	Single nucleotide variant (intron variant +1 more)	Perrault syndrome 2	GLikely pathogenic
Select item 137535	NM_012208.4(HARS2):c.399+18G>A	HARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1203004	NM_012208.4(HARS2):c.399+244C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673718	NM_012208.4(HARS2):c.400-288C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265432	NM_012208.4(HARS2):c.400-80_400-79insTTGATATAG	HARS2	Insertion (intron variant)	not provided	GBenign
Select item 2329729	NM_012208.4(HARS2):c.412C>T (p.Arg138Cys)	HARS2 (R144C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 635272	NM_012208.4(HARS2):c.413G>A (p.Arg138His)	HARS2 (R138H +3 more)	Single nucleotide variant (missense variant +1 more)	HARS2-related disorder	GUncertain significance
Select item 3104246	NM_012208.4(HARS2):c.425T>C (p.Met142Thr)	HARS2 (M117T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214543	NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)	HARS2 (R150C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2161412	NM_012208.4(HARS2):c.453T>C (p.Tyr151=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1644176	NM_012208.4(HARS2):c.459T>C (p.Val153=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891181	NM_012208.4(HARS2):c.465G>A (p.Lys155=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662637	NM_012208.4(HARS2):c.472C>T (p.Arg158Trp)	HARS2 (R133W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931186	NM_012208.4(HARS2):c.475C>T (p.Arg159Ter)	HARS2 (R134* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 225386	NM_012208.4(HARS2):c.489dup (p.Ile164fs)	HARS2 (I139fs +3 more)	Duplication (frameshift variant +1 more)	Perrault syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1438891	NM_012208.4(HARS2):c.497A>G (p.Gln166Arg)	HARS2 (Q141R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 228739	NM_012208.4(HARS2):c.502C>T (p.Arg168Cys)	HARS2 (R168C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505265	NM_012208.4(HARS2):c.503G>A (p.Arg168His)	HARS2 (R168H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1475220	NM_012208.4(HARS2):c.506A>G (p.Tyr169Cys)	HARS2 (Y144C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643004	NM_012208.4(HARS2):c.507T>C (p.Tyr169=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2018509	NM_012208.4(HARS2):c.525+5G>A	HARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2034963	NM_012208.4(HARS2):c.525+7G>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909412	NM_012208.4(HARS2):c.525+9C>A	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932770	NM_012208.4(HARS2):c.525+9C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981271	NM_012208.4(HARS2):c.525+19G>A	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631262	NM_012208.4(HARS2):c.526-17C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992107	NM_012208.4(HARS2):c.526-16T>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2258915	NM_012208.4(HARS2):c.535A>G (p.Ile179Val)	HARS2 (I109V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 510064	NM_012208.4(HARS2):c.564C>T (p.Pro188=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683906	NM_012208.4(HARS2):c.587T>C (p.Met196Thr)	HARS2 (M126T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39620	NM_012208.4(HARS2):c.598C>G (p.Leu200Val)	HARS2 (L200V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2011777	NM_012208.4(HARS2):c.607T>A (p.Leu203Met)	HARS2 (L209M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798845	NM_012208.4(HARS2):c.607T>C (p.Leu203=)	HARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1913132	NM_012208.4(HARS2):c.627C>G (p.Leu209=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214544	NM_012208.4(HARS2):c.633+1G>A	HARS2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

<< First< Prev

Page of 3