"GeneDx"[submitter] AND "YARS2"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59805	GRCh38/hg38 12p11.21(chr12:32731855-32881857)x3	DNM1L, LOC126861497 +4 more	Copy number gain	See cases	GPathogenic
Select item 308394	NM_012062.5(DNM1L):c.*21G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 5 +4 more	GBenign/Likely benign
Select item 308396	NM_012062.5(DNM1L):c.*22A>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 5 +4 more	GBenign/Likely benign
Select item 308400	NM_012062.5(DNM1L):c.*271C>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GBenign/Likely benign
Select item 308441	NM_001040436.3(YARS2):c.*406C>T	YARS2, DNM1L	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +4 more	GBenign/Likely benign
Select item 308444	NM_001040436.3(YARS2):c.*209G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +4 more	GBenign/Likely benign
Select item 308445	NM_001040436.3(YARS2):c.*191T>C	YARS2, DNM1L	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +4 more	GBenign/Likely benign
Select item 308446	NM_001040436.3(YARS2):c.*162A>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 215420	NM_001040436.3(YARS2):c.1396A>G (p.Lys466Glu)	YARS2 (K466E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 215426	NM_001040436.3(YARS2):c.1360_1362delinsGA (p.Ile454fs)	YARS2 (I454fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 308451	NM_001040436.3(YARS2):c.1356A>G (p.Gln452=)	DNM1L, YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +4 more	GBenign/Likely benign
Select item 215425	NM_001040436.3(YARS2):c.1275-2dup	YARS2	Duplication (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 680849	NM_001040436.3(YARS2):c.1275-323A>G	YARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680984	NM_001040436.3(YARS2):c.1274+187_1274+189dup	YARS2	Duplication (intron variant)	not provided	GBenign
Select item 681015	NM_001040436.3(YARS2):c.1274+159G>A	YARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303071	NM_001040436.3(YARS2):c.1271G>A (p.Arg424Gln)	YARS2 (R424Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 308453	NM_001040436.3(YARS2):c.1104-16dup	YARS2	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 676439	NM_001040436.3(YARS2):c.1104-107A>C	YARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673280	NM_001040436.3(YARS2):c.1104-197G>A	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286048	NM_001040436.3(YARS2):c.1104-211G>A	YARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188431	NM_001040436.3(YARS2):c.1104-290A>G	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137936	NM_001040436.3(YARS2):c.1103+18T>C	YARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 137935	NM_001040436.3(YARS2):c.1026G>A (p.Arg342=)	YARS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2574941	NM_001040436.3(YARS2):c.997A>G (p.Met333Val)	YARS2 (M333V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367837	NM_001040436.3(YARS2):c.974C>A (p.Pro325His)	YARS2 (P325H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517074	NM_001040436.3(YARS2):c.960G>A (p.Leu320=)	YARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 215422	NM_001040436.3(YARS2):c.948G>A (p.Arg316=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 515014	NM_001040436.3(YARS2):c.948-20C>T	YARS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1285877	NM_001040436.3(YARS2):c.948-211dup	YARS2	Duplication (intron variant)	not provided	GBenign
Select item 680983	NM_001040436.3(YARS2):c.948-213T>C	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680982	NM_001040436.3(YARS2):c.948-261A>G	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242674	NM_001040436.3(YARS2):c.948-281G>A	YARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203333	NM_001040436.3(YARS2):c.947+162A>G	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 215421	NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu)	YARS2 (D311E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 378867	NM_001040436.3(YARS2):c.930G>C (p.Pro310=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 308455	NM_001040436.3(YARS2):c.930G>A (p.Pro310=)	YARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 215419	NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser)	YARS2 (P310S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1198694	NM_001040436.3(YARS2):c.922A>C (p.Arg308=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215416	NM_001040436.3(YARS2):c.883G>A (p.Asp295Asn)	YARS2 (D295N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308457	NM_001040436.3(YARS2):c.870T>C (p.Val290=)	YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +3 more	GConflicting classifications of pathogenicity
Select item 423483	NM_001040436.3(YARS2):c.842del (p.Lys281fs)	YARS2 (K281fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 308458	NM_001040436.3(YARS2):c.819A>G (p.Leu273=)	YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +3 more	GConflicting classifications of pathogenicity
Select item 1196760	NM_001040436.3(YARS2):c.789AGA[1] (p.Glu264del)	YARS2 (E264del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1801984	NM_001040436.3(YARS2):c.780-11T>C	YARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 680981	NM_001040436.3(YARS2):c.780-153T>C	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675589	NM_001040436.3(YARS2):c.779+150C>T	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674451	NM_001040436.3(YARS2):c.779+51C>G	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305446	NM_001040436.3(YARS2):c.707A>G (p.Tyr236Cys)	YARS2 (Y236C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329848	NM_001040436.3(YARS2):c.687C>A (p.Phe229Leu)	YARS2 (F229L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 308459	NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg)	YARS2 (K209R)	Single nucleotide variant (missense variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +2 more	GConflicting classifications of pathogenicity
Select item 426674	NM_001040436.3(YARS2):c.616dup (p.Leu206fs)	YARS2 (L206fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3343370	NM_001040436.3(YARS2):c.596T>C (p.Leu199Pro)	YARS2 (L199P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196419	NM_001040436.3(YARS2):c.582C>T (p.Arg194=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 308460	NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)	YARS2 (G191V)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more	GBenign/Likely benign
Select item 1193664	NM_001040436.3(YARS2):c.553T>C (p.Phe185Leu)	YARS2 (F185L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 308461	NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)	YARS2 (K179Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308462	NM_001040436.3(YARS2):c.477C>T (p.Phe159=)	YARS2	Single nucleotide variant (synonymous variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +3 more	GConflicting classifications of pathogenicity
Select item 137934	NM_001040436.3(YARS2):c.456G>A (p.Ala152=)	YARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2579473	NM_001040436.3(YARS2):c.439G>A (p.Gly147Arg)	YARS2 (G147R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501529	NM_001040436.3(YARS2):c.427G>C (p.Ala143Pro)	YARS2 (A143P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215424	NM_001040436.3(YARS2):c.374G>C (p.Arg125Pro)	YARS2 (R125P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3365116	NM_001040436.3(YARS2):c.353G>T (p.Arg118Leu)	YARS2 (R118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137938	NM_001040436.3(YARS2):c.342C>T (p.Gly114=)	YARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 137937	NM_001040436.3(YARS2):c.291C>T (p.Gly97=)	YARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 393278	NM_001040436.3(YARS2):c.280G>A (p.Ala94Thr)	YARS2 (A94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371352	NM_001040436.3(YARS2):c.269G>A (p.Gly90Asp)	YARS2 (G90D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215423	NM_001040436.3(YARS2):c.236G>T (p.Gly79Val)	YARS2 (G79V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 724501	NM_001040436.3(YARS2):c.225C>T (p.Thr75=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215418	NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)	YARS2 (G68S)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 393277	NM_001040436.3(YARS2):c.181C>G (p.Leu61Val)	YARS2 (L61V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1056	NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)	YARS2 (F52L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 102433	NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)	YARS2 (G46D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1924552	NM_001040436.3(YARS2):c.118G>C (p.Ala40Pro)	YARS2 (A40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215417	NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)	YARS2 (A35D)	Single nucleotide variant (missense variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +3 more	GConflicting classifications of pathogenicity
Select item 1707796	NM_001040436.3(YARS2):c.101G>A (p.Gly34Asp)	YARS2 (G34D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159512	NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)	YARS2 (S33*)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +1 more	GPathogenic
Select item 2077637	NM_001040436.3(YARS2):c.62C>T (p.Ser21Leu)	YARS2 (S21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252331	NM_001040436.3(YARS2):c.-5C>G	YARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 676438	NM_001040436.2(YARS2):c.-153G>C	YARS2	Single nucleotide variant	not provided	GBenign
Select item 253967	GRCh37/hg19 12p11.21(chr12:32896340-32906926)x3	YARS2, DNM1L	Copy number gain	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 82