57505[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 357021	NM_020745.4(AARS2):c.*1811C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357022	NM_020745.4(AARS2):c.*1720C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357023	NM_020745.4(AARS2):c.*1719T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357024	NM_020745.4(AARS2):c.*1710G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357025	NM_020745.4(AARS2):c.*1706C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357026	NM_020745.4(AARS2):c.1635_1636insAA	AARS2, POLR1C	Insertion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
Select item 357027	NM_020745.4(AARS2):c.*1603C>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357028	NM_020745.4(AARS2):c.*1576A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357029	NM_020745.4(AARS2):c.*1549C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
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 357030	NM_020745.4(AARS2):c.*1485G>A	AARS2, POLR1C	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 357031	NM_020745.4(AARS2):c.*1473del	AARS2, POLR1C	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	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 357032	NM_020745.4(AARS2):c.*1359A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
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 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 357033	NM_020745.4(AARS2):c.*1300C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
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 357034	NM_020745.4(AARS2):c.1284_1287del	AARS2, POLR1C	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 357035	NM_020745.4(AARS2):c.*1284del	AARS2, POLR1C	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
Select item 357036	NM_020745.4(AARS2):c.*1252A>C	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 357037	NM_020745.4(AARS2):c.*1112dup	AARS2, POLR1C	Duplication (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
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 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 357038	NM_020745.4(AARS2):c.*997G>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357039	NM_020745.4(AARS2):c.*982G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357040	NM_020745.4(AARS2):c.*926C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357041	NM_020745.4(AARS2):c.*753C>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 357042	NM_020745.4(AARS2):c.*718C>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 357043	NM_020745.4(AARS2):c.633_634insGGTATGGGTGCCCT	AARS2, POLR1C	Insertion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
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 357044	NM_020745.4(AARS2):c.555_556insATAAA	AARS2, POLR1C	Insertion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GBenign
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 357045	NM_020745.4(AARS2):c.*423G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357046	NM_020745.4(AARS2):c.*408G>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357047	NM_020745.4(AARS2):c.*394C>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357048	NM_020745.4(AARS2):c.*366T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357049	NM_020745.4(AARS2):c.*343G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
Select item 357050	NM_020745.4(AARS2):c.*341G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GBenign
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 357051	NM_020745.4(AARS2):c.*279G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357052	NM_020745.4(AARS2):c.*262T>C	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 357053	NM_020745.4(AARS2):c.*256A>G	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8	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 1178641	NM_020745.4(AARS2):c.*149G>A	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 357054	NM_020745.4(AARS2):c.*9C>T	AARS2, POLR1C	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 1201845	NM_020745.4(AARS2):c.2952G>C (p.Gln984His)	AARS2, POLR1C (Q984H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 912181	NM_020745.4(AARS2):c.2937C>G (p.Thr979=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2018705	NM_020745.4(AARS2):c.2908C>T (p.Leu970=)	POLR1C, AARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712636	NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr)	AARS2, POLR1C (D969Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 143047	NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg)	POLR1C, AARS2 (G965R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584588	NM_020745.4(AARS2):c.2892C>T (p.Thr964=)	POLR1C, AARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2971836	NM_020745.4(AARS2):c.2871_2872inv (p.Arg958Ter)	AARS2, POLR1C (R958*)	Inversion (nonsense +1 more)	not provided	GPathogenic
Select item 2385967	NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)	AARS2, POLR1C (R958*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 357055	NM_020745.4(AARS2):c.2871A>G (p.Ser957=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 136221	NM_020745.4(AARS2):c.2871= (p.Ser957=)	AARS2, POLR1C	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 213961	NM_020745.4(AARS2):c.2861C>T (p.Ala954Val)	AARS2, POLR1C (A954V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 445423	NM_020745.4(AARS2):c.2850G>T (p.Met950Ile)	AARS2, POLR1C (M950I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024313	NM_020745.4(AARS2):c.2830C>T (p.Leu944=)	POLR1C, AARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 213972	NM_020745.4(AARS2):c.2812A>C (p.Thr938Pro)	AARS2, POLR1C (T938P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 357057	NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser)	POLR1C, AARS2 (G932S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 677596	NM_020745.4(AARS2):c.2794-143G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673635	NM_020745.4(AARS2):c.2793+191A>C	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675493	NM_020745.4(AARS2):c.2793+105G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185550	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	AARS2, POLR1C	Insertion (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 2019769	NM_020745.4(AARS2):c.2793+20A>G	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2227681	NM_020745.4(AARS2):c.2783A>G (p.Gln928Arg)	AARS2, POLR1C (Q928R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 497299	NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)	AARS2, POLR1C (T910fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 384888	NM_020745.4(AARS2):c.2730G>A (p.Thr910=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964414	NM_020745.4(AARS2):c.2729C>T (p.Thr910Met)	AARS2, POLR1C (T910M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366359	NM_020745.4(AARS2):c.2729C>G (p.Thr910Arg)	AARS2, POLR1C (T910R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1158430	NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser)	AARS2, POLR1C (P908S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414479	NM_020745.4(AARS2):c.2718G>C (p.Gln906His)	AARS2, POLR1C (Q906H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1346175	NM_020745.4(AARS2):c.2702G>A (p.Arg901Gln)	AARS2, POLR1C (R901Q)	Single nucleotide variant (missense variant +1 more)	not provided	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 235275	NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp)	AARS2, POLR1C (R901W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2699053	NM_020745.4(AARS2):c.2685G>C (p.Val895=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 632485	NM_020745.4(AARS2):c.2683-1G>T	AARS2, POLR1C	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 680171	NM_020745.4(AARS2):c.2683-9G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721782	NM_020745.4(AARS2):c.2683-10C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1939109	NM_020745.4(AARS2):c.2683-21_2683-20inv	AARS2, POLR1C	Inversion (intron variant)	not provided	GUncertain significance
Select item 1168141	NM_020745.4(AARS2):c.2683-20A>G	AARS2, POLR1C	Single nucleotide variant (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 1194530	NM_020745.4(AARS2):c.2683-45G>C	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197780	NM_020745.4(AARS2):c.2682+31G>C	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193133	NM_020745.4(AARS2):c.2682+27C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385162	NM_020745.4(AARS2):c.2682+18C>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2179715	NM_020745.4(AARS2):c.2682+10A>T	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1802985	NM_020745.4(AARS2):c.2682+5G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	See cases	GUncertain significance

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