"GeneDx"[submitter] AND "YARS1"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297144	NM_003680.4(YARS1):c.*293A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297145	NM_003680.4(YARS1):c.*284A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign/Likely benign
Select item 1200883	NM_003680.4(YARS1):c.*106C>T	YARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 220175	NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)	YARS1 (G524A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 246479	NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser)	YARS1 (G515S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1289027	NM_003680.4(YARS1):c.1476+304G>C	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 854032	NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)	YARS1 (E479K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +2 more	GConflicting classifications of pathogenicity
Select item 297149	NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 533464	NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys)	YARS1 (R450C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 415914	NM_003680.4(YARS1):c.1228G>A (p.Val410Met)	YARS1 (V410M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 297151	NM_003680.4(YARS1):c.1218G>C (p.Leu406=)	YARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1681490	NM_003680.4(YARS1):c.1207G>A (p.Val403Met)	YARS1 (V403M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 515998	NM_003680.4(YARS1):c.1191T>C (p.Ala397=)	YARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 392105	NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala)	YARS1 (D385A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 506903	NM_003680.4(YARS1):c.1141-15G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely benign
Select item 1209315	NM_003680.4(YARS1):c.1141-286G>A	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671818	NM_003680.4(YARS1):c.1141-298A>T	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673894	NM_003680.4(YARS1):c.1140+253A>G	LOC132088695, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253354	NM_003680.4(YARS1):c.1140+209A>G	LOC132088695, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383817	NM_003680.4(YARS1):c.1128C>T (p.Ile376=)	YARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 567612	NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)	YARS1 (R367W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 581271	NM_003680.4(YARS1):c.1094del (p.Pro365fs)	YARS1 (P365fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 464871	NM_003680.4(YARS1):c.1082A>T (p.Glu361Val)	YARS1 (E361V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1207286	NM_003680.4(YARS1):c.1042+254C>G	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670891	NM_003680.4(YARS1):c.1042+208C>A	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423363	NM_003680.4(YARS1):c.1016C>T (p.Ala339Val)	YARS1 (A339V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215506	NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)	YARS1 (A339T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 571694	NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly)	YARS1 (S338G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 391219	NM_003680.4(YARS1):c.1008G>A (p.Leu336=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +2 more	GBenign/Likely benign
Select item 1800270	NM_003680.4(YARS1):c.986_988dup (p.Asn329_Thr330insAsn)	YARS1	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 1326379	NM_003680.4(YARS1):c.977A>G (p.Glu326Gly)	YARS1 (E326G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 297154	NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)	YARS1 (A316T)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +3 more	GConflicting classifications of pathogenicity
Select item 1206516	NM_003680.4(YARS1):c.907-31T>A	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679576	NM_003680.4(YARS1):c.906+244C>T	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670337	NM_003680.4(YARS1):c.906+224A>G	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 939386	NM_003680.4(YARS1):c.877G>A (p.Val293Met)	LOC126805688, YARS1 (V293M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297155	NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)	YARS1, LOC126805688 (Y292D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1315737	NM_003680.4(YARS1):c.821-1G>C	LOC126805688, YARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1175561	NM_003680.4(YARS1):c.821-74_821-52del	LOC126805688, YARS1	Deletion (intron variant)	not provided	GBenign
Select item 508808	NM_003680.4(YARS1):c.820+17del	LOC126805688, YARS1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3363616	NM_003680.4(YARS1):c.809C>T (p.Pro270Leu)	LOC126805688, YARS1 (P270L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 464881	NM_003680.4(YARS1):c.795G>C (p.Lys265Asn)	YARS1, LOC126805688 (K265N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1693091	NM_003680.4(YARS1):c.746_748del (p.Phe249del)	YARS1, LOC126805688 (F249del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 390159	NM_003680.4(YARS1):c.685-16G>A	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely benign
Select item 670336	NM_003680.4(YARS1):c.685-211A>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220072	NM_003680.4(YARS1):c.685-278G>A	LOC126805688, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670889	NM_003680.4(YARS1):c.684+118C>G	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510054	NM_003680.4(YARS1):c.678A>G (p.Ser226=)	YARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 670888	NM_003680.4(YARS1):c.592-29G>T	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672684	NM_003680.4(YARS1):c.592-268G>A	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201700	NM_003680.4(YARS1):c.592-269G>A	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514248	NM_003680.4(YARS1):c.591+9C>T	YARS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1197969	NM_003680.4(YARS1):c.511-44A>G	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182952	NM_003680.4(YARS1):c.510+91G>A	YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284760	NM_003680.4(YARS1):c.510+10G>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 662296	NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)	YARS1 (P167T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 297160	NM_003680.4(YARS1):c.414C>T (p.Ser138=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 450882	NM_003680.4(YARS1):c.410C>G (p.Ser137Cys)	YARS1 (S137C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389313	NM_003680.4(YARS1):c.381-6C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely benign
Select item 1295797	NM_003680.4(YARS1):c.381-96dup	YARS1	Duplication (intron variant)	not provided	GBenign
Select item 1268837	NM_003680.4(YARS1):c.380+211A>G	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510720	NM_003680.4(YARS1):c.380+19A>G	YARS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1700369	NM_003680.4(YARS1):c.371A>C (p.Gln124Pro)	YARS1 (Q124P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1317137	NM_003680.4(YARS1):c.323T>C (p.Ile108Thr)	YARS1 (I108T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318933	NM_003680.4(YARS1):c.316G>A (p.Glu106Lys)	YARS1 (E106K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321093	NM_003680.4(YARS1):c.310A>G (p.Met104Val)	YARS1 (M104V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451509	NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)	YARS1 (W87*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 3371069	NM_003680.4(YARS1):c.222G>A (p.Ala74=)	YARS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1803617	NM_003680.4(YARS1):c.214C>A (p.Leu72Met)	YARS1 (L72M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464875	NM_003680.4(YARS1):c.211A>G (p.Ile71Val)	YARS1 (I71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 387230	NM_003680.4(YARS1):c.205-17C>A	YARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507634	NM_003680.4(YARS1):c.205-19C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely benign
Select item 670335	NM_003680.4(YARS1):c.205-57C>T	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251518	NM_003680.4(YARS1):c.204+48C>T	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 940101	NM_003680.4(YARS1):c.166A>G (p.Met56Val)	YARS1 (M56V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 239549	NM_003680.4(YARS1):c.63T>C (p.Val21=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +2 more	GBenign/Likely benign
Select item 297162	NM_003680.4(YARS1):c.60G>A (p.Glu20=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1321040	NM_003680.4(YARS1):c.58-2A>G	YARS1	Single nucleotide variant (splice acceptor variant)	not specified +2 more	GUncertain significance
Select item 1209478	NM_003680.4(YARS1):c.57+269C>G	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271492	NM_003680.4(YARS1):c.57+174C>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382756	NM_003680.4(YARS1):c.57+16T>C	S100PBP, YARS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 297163	NM_003680.4(YARS1):c.57+14G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 289456	NM_003680.4(YARS1):c.52C>T (p.Leu18=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1102663	NM_003680.4(YARS1):c.45C>T (p.Thr15=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GConflicting classifications of pathogenicity
Select item 423207	NM_003680.4(YARS1):c.8dup (p.Asp3fs)	S100PBP, YARS1 (D3fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 392635	NM_003680.4(YARS1):c.-28G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 876718	NM_003680.3(YARS1):c.-623G>A	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 297175	NM_003680.3(YARS1):c.-683C>T	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 297176	NM_003680.3(YARS1):c.-738C>G	S100PBP, YARS1 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3360302	NM_003680.4(YARS1):c.188T>A (p.Leu63Ter)	YARS1 (L63*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 90