79731[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 1246376	NM_024678.6(NARS2):c.*199C>T	NARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1204738	NM_024678.6(NARS2):c.*140dup	NARS2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 381448	NM_024678.6(NARS2):c.*4G>A	NARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2104527	NM_024678.6(NARS2):c.1421C>T (p.Ser474Leu)	NARS2 (S247L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227362	NM_024678.6(NARS2):c.1417C>A (p.His473Asn)	NARS2 (H246N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3367247	NM_024678.6(NARS2):c.1410G>T (p.Arg470Ser)	NARS2 (R234S +14 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1328136	NM_024678.6(NARS2):c.1385T>C (p.Ile462Thr)	NARS2 (I235T +1 more)	Single nucleotide variant (missense variant)	NARS2-related primary mitochondrial disorder	GUncertain significance
Select item 2521973	NM_024678.6(NARS2):c.1382A>G (p.Asn461Ser)	NARS2 (N234S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 953071	NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)	NARS2 (Q227R +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 2663834	NM_024678.6(NARS2):c.1352G>A (p.Arg451His)	NARS2 (R215H +14 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 3058399	NM_024678.6(NARS2):c.1350A>G (p.Glu450=)	NARS2	Single nucleotide variant (synonymous variant)	NARS2-related disorder	GLikely benign
Select item 984391	NM_024678.6(NARS2):c.1339A>G (p.Met447Val)	NARS2 (M220V +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GConflicting classifications of pathogenicity
Select item 1946313	NM_024678.6(NARS2):c.1325A>C (p.His442Pro)	NARS2 (H215P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979094	NM_024678.6(NARS2):c.1315T>C (p.Ser439Pro)	NARS2 (S439P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700896	NM_024678.6(NARS2):c.1311T>G (p.Phe437Leu)	NARS2 (F360L +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350289	NM_024678.6(NARS2):c.1307G>A (p.Arg436Gln)	NARS2 (R209Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 817534	NM_024678.6(NARS2):c.1306C>T (p.Arg436Ter)	NARS2 (R209* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 522914	NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)	NARS2 (R209G +1 more)	Single nucleotide variant (missense variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 1028840	NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys)	NARS2 (R208C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 2414285	NM_024678.6(NARS2):c.1293T>C (p.Tyr431=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297024	NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)	NARS2 (Y204H +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 1691419	NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)	NARS2 (W203C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 1638586	NM_024678.6(NARS2):c.1290-15A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640833	NM_024678.6(NARS2):c.1290-17C>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642201	NM_024678.6(NARS2):c.1290-36A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676765	NM_024678.6(NARS2):c.1290-53A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255101	NM_024678.6(NARS2):c.1290-210A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178086	NM_024678.6(NARS2):c.1289+249T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1632937	NM_024678.6(NARS2):c.1289+16C>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905996	NM_024678.6(NARS2):c.1289+14C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775667	NM_024678.6(NARS2):c.1289+13C>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970055	NM_024678.6(NARS2):c.1289+9G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949892	NM_024678.6(NARS2):c.1289+8T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381168	NM_024678.6(NARS2):c.1289+7A>G	NARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1662148	NM_024678.6(NARS2):c.1287A>G (p.Gln429=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904142	NM_024678.6(NARS2):c.1263-18_1263-7del	NARS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1216621	NM_024678.6(NARS2):c.1262+157C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174365	NM_024678.6(NARS2):c.1262+97C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381863	NM_024678.6(NARS2):c.1262+6G>A	NARS2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1393599	NM_024678.6(NARS2):c.1252_1253insTAAG (p.Arg418fs)	NARS2 (R191fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 802711	NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	NARS2 (R191H +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +2 more	GUncertain significance
Select item 2366938	NM_024678.6(NARS2):c.1252C>T (p.Arg418Cys)	NARS2 (R191C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576778	NM_024678.6(NARS2):c.1246G>C (p.Glu416Gln)	NARS2 (E189Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052478	NM_024678.6(NARS2):c.1237C>G (p.His413Asp)	NARS2 (H186D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1323326	NM_024678.6(NARS2):c.1236C>G (p.Tyr412Ter)	NARS2 (Y185* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3298448	NM_024678.6(NARS2):c.1214G>T (p.Gly405Val)	NARS2 (G178V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2002026	NM_024678.6(NARS2):c.1212A>C (p.Gly404=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902683	NM_024678.6(NARS2):c.1209T>C (p.Phe403=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514954	NM_024678.6(NARS2):c.1196T>G (p.Val399Gly)	NARS2 (V399G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1977644	NM_024678.6(NARS2):c.1189C>T (p.Pro397Ser)	NARS2 (P170S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632578	NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg)	NARS2 (L395R +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 2683162	NM_024678.6(NARS2):c.1174G>A (p.Val392Ile)	NARS2 (V165I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040851	NM_024678.6(NARS2):c.1165-8_1165-7del	NARS2	Deletion (intron variant)	NARS2-related disorder	GLikely benign
Select item 1267746	NM_024678.6(NARS2):c.1165-88C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232071	NM_024678.6(NARS2):c.1165-162A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682661	NM_024678.6(NARS2):c.1165-282A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682660	NM_024678.6(NARS2):c.1165-286T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294253	NM_024678.6(NARS2):c.1164+114T>C	LOC130006506, NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522878	NM_024678.6(NARS2):c.1145A>C (p.Glu382Ala)	LOC130006506, NARS2 (E155A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632572	NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	LOC130006506, NARS2 (N381S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GLikely pathogenic
Select item 1691418	NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp)	LOC130006506, NARS2 (N154D +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 3368313	NM_024678.6(NARS2):c.1137G>T (p.Arg379Ser)	LOC130006506, NARS2 (R152S +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 729864	NM_024678.6(NARS2):c.1132A>C (p.Met378Leu)	NARS2, LOC130006506 (M151L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2074976	NM_024678.6(NARS2):c.1131C>T (p.Tyr377=)	NARS2, LOC130006506	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919802	NM_024678.6(NARS2):c.1119C>T (p.Leu373=)	LOC130006506, NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896885	NM_024678.6(NARS2):c.1100T>C (p.Ile367Thr)	NARS2 (I181T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723932	NM_024678.6(NARS2):c.1098T>A (p.Val366=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182060	NM_024678.6(NARS2):c.1096G>C (p.Val366Leu)	NARS2 (V139L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335082	NM_024678.6(NARS2):c.1096G>A (p.Val366Ile)	NARS2 (V139I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381456	NM_024678.6(NARS2):c.1095C>T (p.Phe365=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786829	NM_024678.6(NARS2):c.1082A>G (p.Asn361Ser)	NARS2 (N361S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1653331	NM_024678.6(NARS2):c.1080C>A (p.Gly360=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421194	NM_024678.6(NARS2):c.1059G>A (p.Lys353=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738628	NM_024678.6(NARS2):c.1050A>G (p.Glu350=)	NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791317	NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp)	NARS2 (R348W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2231782	NM_024678.6(NARS2):c.1039C>G (p.Leu347Val)	NARS2 (L120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006519	NM_024678.6(NARS2):c.1031G>T (p.Gly344Val)	NARS2 (G117V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898583	NM_024678.6(NARS2):c.1027-4A>T	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703387	NM_024678.6(NARS2):c.1027-7A>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844858	NM_024678.6(NARS2):c.1027-12T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871088	NM_024678.6(NARS2):c.1027-19T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672533	NM_024678.6(NARS2):c.1027-82T>C	LOC130006507, NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190770	NM_024678.6(NARS2):c.1027-95G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207627	NM_024678.6(NARS2):c.1027-253G>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671521	NM_024678.6(NARS2):c.1027-265G>T	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2582897	NM_024678.6(NARS2):c.1027-1412A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642202	NM_024678.6(NARS2):c.1027-1444C>G	NARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 673196	NM_024678.6(NARS2):c.1026+260G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214178	NM_024678.6(NARS2):c.1026+195A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207666	NM_024678.6(NARS2):c.1026+183C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242128	NM_024678.6(NARS2):c.1026+114T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216749	NM_024678.6(NARS2):c.1026+94del	NARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1910791	NM_024678.6(NARS2):c.1026+16T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111733	NM_024678.6(NARS2):c.1026+11G>T	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636063	NM_024678.6(NARS2):c.1026+11G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508968	NM_024678.6(NARS2):c.1026+10del	NARS2	Deletion (intron variant)	not specified	GLikely benign
Select item 1944187	NM_024678.6(NARS2):c.1018A>T (p.Thr340Ser)	NARS2 (T340S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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