24249[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 464402	NC_000012.11:g.(?_32729272)_(33049685_?)dup	DNM1L, FGD4 +7 more	Duplication	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 146276	GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3	DNM1L, LOC126861496 +10 more	Copy number gain	See cases	GUncertain significance
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 308403	NM_012062.5(DNM1L):c.*393A>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GLikely benign
Select item 308408	NM_012062.5(DNM1L):c.*600C>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GBenign/Likely benign
Select item 308409	NC_000012.12:g.32744154A>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 308411	NC_000012.12:g.32744503T>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +2 more	GBenign
Select item 308414	NC_000012.12:g.32744566G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 308416	NC_000012.12:g.32744623G>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis +2 more	GLikely benign
Select item 308418	NM_012062.5(DNM1L):c.*1242G>A	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GBenign/Likely benign
Select item 308425	NM_012062.5(DNM1L):c.*1415T>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 308448	NM_001040436.3(YARS2):c.126_127del	DNM1L, YARS2	Deletion (3 prime UTR variant)	Lethal Encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 3357555	NC_000012.12:g.32747139A>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	DNM1L-related disorder	GLikely benign
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 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 3057871	NM_001040436.3(YARS2):c.5_6del	YARS2	Deletion (3 prime UTR variant)	YARS2-related disorder	GLikely benign
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 1915857	NM_001040436.3(YARS2):c.1409A>G (p.Tyr470Cys)	YARS2 (Y470C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922007	NM_001040436.3(YARS2):c.1407C>T (p.Phe469=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1694663	NM_001040436.3(YARS2):c.1384_1387del (p.Leu462fs)	YARS2 (L462fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2856318	NM_001040436.3(YARS2):c.1374A>C (p.Gly458=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2314253	NM_001040436.3(YARS2):c.1355A>T (p.Gln452Leu)	YARS2 (Q452L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967018	NM_001040436.3(YARS2):c.1314_1316del (p.His438del)	YARS2 (H438del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2018330	NM_001040436.3(YARS2):c.1310A>T (p.Asn437Ile)	YARS2 (N437I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3020120	NM_001040436.3(YARS2):c.1302C>T (p.Val434=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974784	NM_001040436.3(YARS2):c.1296C>T (p.Gly432=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333621	NM_001040436.3(YARS2):c.1283T>A (p.Met428Lys)	YARS2 (M428K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907822	NM_001040436.3(YARS2):c.1280G>A (p.Arg427Gln)	YARS2 (R427Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1917122	NM_001040436.3(YARS2):c.1279C>T (p.Arg427Ter)	YARS2 (R427*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 215425	NM_001040436.3(YARS2):c.1275-2dup	YARS2	Duplication (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1913877	NM_001040436.3(YARS2):c.1275-19A>T	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2824618	NM_001040436.3(YARS2):c.1274+13A>T	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642842	NM_001040436.3(YARS2):c.1272A>C (p.Arg424=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2027365	NM_001040436.3(YARS2):c.1224T>C (p.Ser408=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381137	NM_001040436.3(YARS2):c.1210G>A (p.Asp404Asn)	YARS2 (D404N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524321	NM_001040436.3(YARS2):c.1189C>T (p.Pro397Ser)	YARS2 (P397S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1934476	NM_001040436.3(YARS2):c.1187C>G (p.Ala396Gly)	YARS2 (A396G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426099	NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup)	YARS2	Duplication (inframe_insertion)	Mitochondrial disease	GPathogenic
Select item 2163137	NM_001040436.3(YARS2):c.1154C>G (p.Ser385Cys)	YARS2 (S385C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611680	NM_001040436.3(YARS2):c.1141C>G (p.Leu381Val)	YARS2 (L381V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959544	NM_001040436.3(YARS2):c.1133T>C (p.Ile378Thr)	YARS2 (I378T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069808	NM_001040436.3(YARS2):c.1116C>G (p.Ala372=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968952	NM_001040436.3(YARS2):c.1113A>G (p.Gln371=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426098	NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr)	YARS2 (C369Y)	Single nucleotide variant (missense variant)	Mitochondrial disease	GPathogenic
Select item 1902916	NM_001040436.3(YARS2):c.1105T>A (p.Cys369Ser)	YARS2 (C369S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917710	NM_001040436.3(YARS2):c.1104-6T>C	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992808	NM_001040436.3(YARS2):c.1104-12T>A	YARS2	Single nucleotide variant (intron 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 1940329	NM_001040436.3(YARS2):c.1104-19C>G	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1946831	NM_001040436.3(YARS2):c.1103+15T>G	YARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419256	NM_001040436.3(YARS2):c.1103+3A>G	YARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2856394	NM_001040436.3(YARS2):c.1095T>C (p.Ser365=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3354509	NM_001040436.3(YARS2):c.1068T>C (p.Leu356=)	YARS2	Single nucleotide variant (synonymous variant)	YARS2-related disorder	GLikely benign
Select item 2971618	NM_001040436.3(YARS2):c.1044A>G (p.Arg348=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896262	NM_001040436.3(YARS2):c.1043G>A (p.Arg348Gln)	YARS2 (R348Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989933	NM_001040436.3(YARS2):c.1039A>G (p.Lys347Glu)	YARS2 (K347E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2473154	NM_001040436.3(YARS2):c.1028G>A (p.Arg343Gln)	YARS2 (R343Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084995	NM_001040436.3(YARS2):c.1027C>A (p.Arg343=)	YARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1959345	NM_001040436.3(YARS2):c.1022A>G (p.Glu341Gly)	YARS2 (E341G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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