ClinVar for MedGen (Select 1377817) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254573	NM_020745.4(AARS2):c.1846G>A (p.Val616Met)	AARS2 (V616M)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 1687164	NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys)	AARS2 (R625C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 1685485	NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)	AARS2 (R322C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1685484	NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)	AARS2 (S361F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1685483	NM_020745.4(AARS2):c.2487+1G>C	AARS2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1685225	NM_020745.4(AARS2):c.790G>A (p.Val264Met)	AARS2 (V264M)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GLikely pathogenic
Select item 1368424	NM_020745.4(AARS2):c.2561G>A (p.Arg854His)	AARS2 (R854H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GUncertain significance
Select item 1339856	GRCh37/hg19 6p21.1(chr6:44274357-44278496)x1	AARS2	Copy number loss	Combined oxidative phosphorylation defect type 8	Gnot provided
Select item 1322029	NM_020745.4(AARS2):c.2255+1G>A	AARS2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1185550	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	AARS2	Insertion (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 1185351	NM_020745.4(AARS2):c.1041-29A>G	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1185350	NM_020745.4(AARS2):c.2255+35C>A	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1185349	NM_020745.4(AARS2):c.2598+117G>C	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1168141	NM_020745.4(AARS2):c.2683-20A>G	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1164206	NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)	AARS2 (I339V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1064700	NM_020745.4(AARS2):c.845C>G (p.Ser282Cys)	AARS2, POLR1C (S282C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1064699	NM_020745.4(AARS2):c.277C>T (p.Arg93Ter)	AARS2, POLR1C (R93*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1030727	NM_020745.4(AARS2):c.649C>T (p.Pro217Ser)	AARS2, POLR1C (P217S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 1030726	NM_020745.4(AARS2):c.472C>A (p.Gln158Lys)	AARS2, POLR1C (Q158K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 1030725	NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)	AARS2, POLR1C (A386V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 931136	NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)	AARS2, POLR1C (W153*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 8	GLikely pathogenic
Select item 930345	NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter)	AARS2, POLR1C (Q962*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 912248	NM_020745.4(AARS2):c.1788T>C (p.Cys596=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912247	NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys)	AARS2, POLR1C (Q669K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912181	NM_020745.4(AARS2):c.2937C>G (p.Thr979=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 912180	NM_020745.4(AARS2):c.*51T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912116	NM_020745.4(AARS2):c.*1007A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GLikely benign
Select item 912115	NM_020745.4(AARS2):c.*1045G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912114	NM_020745.4(AARS2):c.*1197C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912113	NM_020745.4(AARS2):c.*1293A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912112	NM_020745.4(AARS2):c.*1310T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 912111	NM_020745.4(AARS2):c.*1326A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 911292	NM_020745.4(AARS2):c.750-9C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 911086	NM_020745.4(AARS2):c.940G>A (p.Glu314Lys)	AARS2 (E314K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 911085	NM_020745.4(AARS2):c.1041G>A (p.Pro347=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 911084	NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro)	POLR1C, AARS2 (L350P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 911017	NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr)	AARS2 (A741T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 910957	NM_020745.4(AARS2):c.*155C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910956	NM_020745.4(AARS2):c.*317G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910888	NM_020745.4(AARS2):c.*1471C>T	POLR1C, AARS2	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910887	NM_020745.4(AARS2):c.*1473G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 910886	NM_020745.4(AARS2):c.*1536G>C	POLR1C, AARS2	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 910194	NM_020745.4(AARS2):c.1191C>T (p.Ile397=)	AARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910126	NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser)	AARS2, POLR1C (I766S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GUncertain significance
Select item 910056	NM_020745.4(AARS2):c.*448G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 909157	NM_020745.4(AARS2):c.57G>C (p.Ser19=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 909156	NM_020745.4(AARS2):c.60C>T (p.Pro20=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 908309	NM_020745.4(AARS2):c.82C>G (p.Arg28Gly)	AARS2 (R28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 908308	NM_020745.4(AARS2):c.426A>G (p.Glu142=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908307	NM_020745.4(AARS2):c.435+9C>T	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 908246	NM_020745.4(AARS2):c.1474T>C (p.Leu492=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 908245	NM_020745.4(AARS2):c.1533C>T (p.Asp511=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 908173	NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp)	AARS2, POLR1C (S879W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908172	NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys)	AARS2, POLR1C (E891K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908171	NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly)	AARS2, POLR1C (R901G)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908110	NM_020745.4(AARS2):c.*627G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908109	NM_020745.4(AARS2):c.*683C>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 908108	NM_020745.4(AARS2):c.*752G>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 873458	NM_020745.4(AARS2):c.2599-1G>A	AARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 8	GLikely pathogenic
Select item 809943	NM_020745.4(AARS2):c.679G>A (p.Asp227Asn)	AARS2 (D227N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807356	NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro)	AARS2, POLR1C (L844P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GLikely pathogenic
Select item 721782	NM_020745.4(AARS2):c.2683-10C>T	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 632487	NM_020745.4(AARS2):c.1040+1G>A	AARS2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 632486	NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter)	AARS2, POLR1C (Q463*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 632485	NM_020745.4(AARS2):c.2683-1G>T	AARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 623387	NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro)	AARS2, POLR1C (Q676P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 520861	NM_020745.4(AARS2):c.2146-2A>G	AARS2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 510665	NM_020745.4(AARS2):c.1434+7G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 488461	NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr)	POLR1C, AARS2 (A786T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 389042	NM_020745.4(AARS2):c.2598+11G>A	AARS2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 382209	NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp)	AARS2, POLR1C (R678W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357084	NM_020745.4(AARS2):c.22G>T (p.Ala8Ser)	AARS2, POLR1C (A8S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357083	NM_020745.4(AARS2):c.25G>A (p.Ala9Thr)	AARS2, POLR1C (A9T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GUncertain significance
Select item 357082	NM_020745.4(AARS2):c.243+6G>A	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 357081	NM_020745.4(AARS2):c.408T>C (p.Asn136=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357080	NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)	AARS2 (G254A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357079	NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)	AARS2 (R262Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 357078	NM_020745.4(AARS2):c.872C>T (p.Pro291Leu)	AARS2 (P291L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357077	NM_020745.4(AARS2):c.879C>T (p.Leu293=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357076	NM_020745.4(AARS2):c.915C>T (p.Tyr305=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357075	NM_020745.4(AARS2):c.967G>A (p.Val323Met)	AARS2 (V323M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357074	NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)	POLR1C, AARS2 (R329C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GConflicting classifications of pathogenicity
Select item 357073	NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)	AARS2 (M362L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GLikely benign
Select item 357071	NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp)	AARS2 (R482W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357070	NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	AARS2 (D512H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357069	NM_020745.4(AARS2):c.1569C>T (p.Ser523=)	AARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357068	NM_020745.4(AARS2):c.1644C>T (p.Ser548=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 357067	NM_020745.4(AARS2):c.1661G>A (p.Arg554His)	AARS2 (R554H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GLikely benign
Select item 357066	NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr)	AARS2, POLR1C (R561T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 357065	NM_020745.4(AARS2):c.1753-14C>G	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +1 more	GBenign
Select item 357064	NM_020745.4(AARS2):c.2007+8C>T	AARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 357063	NM_020745.4(AARS2):c.2132G>A (p.Arg711His)	AARS2 (R711H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 357062	NM_020745.4(AARS2):c.2146-11C>T	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 357061	NM_020745.4(AARS2):c.2202G>A (p.Leu734=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357060	NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys)	AARS2 (R756C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 357059	NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	AARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 357058	NM_020745.4(AARS2):c.2679C>T (p.Leu893=)	AARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357057	NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser)	AARS2 (G932S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 357056	NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr)	AARS2, POLR1C (A954T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357055	NM_020745.4(AARS2):c.2871A>G (p.Ser957=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign

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