ClinVar for MedGen (Select 462152) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377548	NM_001040436.3(YARS2):c.514G>A (p.Asp172Asn)	YARS2 (D172N)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 2690456	NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)	YARS2 (R414L)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	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 1678585	NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr)	YARS2 (A3T)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 1028984	NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg)	YARS2 (Q476R)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 883253	NM_001040436.2(YARS2):c.-72C>G	YARS2	Single nucleotide variant	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 883252	NM_001040436.2(YARS2):c.-31A>G	YARS2	Single nucleotide variant	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 883197	NM_001040436.3(YARS2):c.*377G>A	YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 883196	NM_001040436.3(YARS2):c.*469C>T	YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GLikely benign
Select item 883195	NM_001040436.3(YARS2):c.*478G>A	YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 883194	NM_001040436.3(YARS2):c.*595G>A	YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GUncertain significance
Select item 725129	NM_001040436.3(YARS2):c.810C>T (p.Thr270=)	YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 594785	NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)	YARS2 (E212*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 308466	NM_001040436.3(YARS2):c.30C>T (p.Ser10=)	YARS2	Single nucleotide variant (synonymous variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +1 more	GUncertain significance
Select item 308465	NM_001040436.3(YARS2):c.180G>A (p.Glu60=)	YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 308464	NM_001040436.3(YARS2):c.234T>C (p.Cys78=)	YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 308463	NM_001040436.3(YARS2):c.327C>G (p.Ile109Met)	YARS2 (I109M)	Single nucleotide variant (missense variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +1 more	GUncertain significance
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 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 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 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 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 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 308456	NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser)	YARS2 (F306S)	Single nucleotide variant (missense variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +1 more	GUncertain significance
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 308454	NM_001040436.3(YARS2):c.934G>C (p.Asp312His)	YARS2 (D312H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308452	NM_001040436.3(YARS2):c.1241G>A (p.Arg414His)	YARS2 (R414H)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more	GUncertain significance
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 308450	NM_001040436.3(YARS2):c.*24A>G	YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +1 more	GUncertain significance
Select item 308449	NM_001040436.3(YARS2):c.*62G>A	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 308447	NM_001040436.3(YARS2):c.*142T>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
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 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 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 308443	NM_001040436.3(YARS2):c.*230A>G	YARS2, DNM1L	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 308442	NM_001040436.3(YARS2):c.*360A>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
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 308440	NM_001040436.3(YARS2):c.*627A>T	YARS2	Single nucleotide variant (3 prime UTR variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +1 more	GUncertain significance
Select item 308439	NM_001040436.3(YARS2):c.*643G>A	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely 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 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 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 209209	NM_001040436.3(YARS2):c.751A>G (p.Ile251Val)	YARS2 (I251V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 209208	NM_001040436.3(YARS2):c.359dup (p.Asp121fs)	YARS2 (D121fs)	Duplication (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GPathogenic
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 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 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 102436	NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly)	YARS2 (S435G)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GPathogenic
Select item 102435	NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter)	YARS2 (R360*)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GPathogenic
Select item 102434	NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp)	YARS2 (G191D)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2	GPathogenic
Select item 102433	NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)	YARS2 (G46D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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

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Items: 54