"GeneDx"[submitter] AND "NARS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 381168	NM_024678.6(NARS2):c.1289+7A>G	NARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 508968	NM_024678.6(NARS2):c.1026+10del	NARS2	Deletion (intron variant)	not specified	GLikely benign
Select item 514812	NM_024678.6(NARS2):c.990A>G (p.Leu330=)	NARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1283571	NM_024678.6(NARS2):c.960-148T>A	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281006	NM_024678.6(NARS2):c.960-149T>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673195	NM_024678.6(NARS2):c.959+273_959+274del	NARS2	Deletion (intron variant)	not provided	GBenign
Select item 1188032	NM_024678.6(NARS2):c.959+244_959+247del	NARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1284138	NM_024678.6(NARS2):c.922-37A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380089	NM_024678.6(NARS2):c.899A>G (p.Lys300Arg)	NARS2 (K300R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1294410	NM_024678.6(NARS2):c.822+30_822+35del	NARS2	Deletion (intron variant)	not provided	GBenign
Select item 506714	NM_024678.6(NARS2):c.822+12A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280243	NM_024678.6(NARS2):c.822+2T>G	NARS2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1190071	NM_024678.6(NARS2):c.788T>C (p.Ile263Thr)	NARS2 (I263T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 427163	NM_024678.6(NARS2):c.749G>A (p.Arg250Gln)	NARS2 (R23Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 1700512	NM_024678.6(NARS2):c.728G>A (p.Arg243Gln)	NARS2 (R16Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 379735	NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)	NARS2 (R16* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 380849	NM_024678.6(NARS2):c.720G>A (p.Pro240=)	NARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1237900	NM_024678.6(NARS2):c.690-61dup	NARS2	Duplication (intron variant)	not provided	GBenign
Select item 1212138	NM_024678.6(NARS2):c.690-79G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253424	NM_024678.6(NARS2):c.690-139G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667638	NM_024678.6(NARS2):c.690-165G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672532	NM_024678.6(NARS2):c.690-197C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214605	NM_024678.6(NARS2):c.690-225G>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682659	NM_024678.6(NARS2):c.690-320T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283190	NM_024678.6(NARS2):c.689+262A>T	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199442	NM_024678.6(NARS2):c.689+101C>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426148	NM_024678.6(NARS2):c.688G>C (p.Gly230Arg)	NARS2 (G230R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368503	NM_024678.6(NARS2):c.655G>A (p.Val219Ile)	NARS2 (V142I +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3342379	NM_024678.6(NARS2):c.643G>C (p.Ala215Pro)	NARS2 (A138P +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1033640	NM_024678.6(NARS2):c.640C>A (p.Pro214Thr)	NARS2 (P214T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 424270	NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)	NARS2 (F211I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1229002	NM_024678.6(NARS2):c.595-237T>A	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682658	NM_024678.6(NARS2):c.594+281T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262922	NM_024678.6(NARS2):c.594+211dup	NARS2	Duplication (intron variant)	not provided	GBenign
Select item 1246486	NM_024678.6(NARS2):c.594+211_594+212dup	NARS2	Duplication (intron variant)	not provided	GBenign
Select item 1236140	NM_024678.6(NARS2):c.594+211_594+213dup	NARS2	Duplication (intron variant)	not provided	GBenign
Select item 1192035	NM_024678.6(NARS2):c.594+211_594+214dup	NARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1206806	NM_024678.6(NARS2):c.594+1G>C	NARS2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1802102	NM_024678.6(NARS2):c.557A>G (p.Asn186Ser)	NARS2 (N186S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428788	NM_024678.6(NARS2):c.529C>G (p.His177Asp)	NARS2 (H177D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 513490	NM_024678.6(NARS2):c.514-3C>T	NARS2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1218891	NM_024678.6(NARS2):c.514-287T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197053	NM_024678.6(NARS2):c.513+179A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204096	NM_024678.6(NARS2):c.513+96T>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218072	NM_024678.6(NARS2):c.513+21T>C	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682530	NM_024678.6(NARS2):c.513+20C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381800	NM_024678.6(NARS2):c.513+15G>A	NARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 377031	NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)	NARS2 (F169Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 682537	NM_024678.6(NARS2):c.492T>C (p.Ala164=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1329786	NM_024678.6(NARS2):c.451G>A (p.Val151Ile)	NARS2 (V151I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 514791	NM_024678.6(NARS2):c.450C>T (p.Asn150=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 386299	NM_024678.6(NARS2):c.423A>G (p.Gln141=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1388006	NM_024678.6(NARS2):c.419G>C (p.Arg140Pro)	NARS2 (R140P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 391671	NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)	NARS2 (R140*)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 24 +1 more	GPathogenic
Select item 380001	NM_024678.6(NARS2):c.414T>C (p.Tyr138=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 506452	NM_024678.6(NARS2):c.369C>T (p.Ala123=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1706104	NM_024678.6(NARS2):c.361T>G (p.Cys121Gly)	NARS2 (C121G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 382080	NM_024678.6(NARS2):c.306A>G (p.Pro102=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 380000	NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)	NARS2 (N87T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, autosomal recessive 94 +3 more	GBenign
Select item 381427	NM_024678.6(NARS2):c.252-3T>A	NARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 381426	NM_024678.6(NARS2):c.252-5T>C	NARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1272145	NM_024678.6(NARS2):c.252-171C>T	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187364	NM_024678.6(NARS2):c.252-213_252-209del	NARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1201351	NM_024678.6(NARS2):c.252-238T>A	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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