"GeneDx"[submitter] AND "KARS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 60023	GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3	ADAT1, CNTNAP4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 320621	NM_005548.3(KARS1):c.*59G>A	KARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1218463	NM_005548.3(KARS1):c.*33G>A	KARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 320623	NM_005548.3(KARS1):c.*26C>G	KARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 226682	NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser)	KARS1 (T623S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1225810	NM_005548.3(KARS1):c.1782C>T (p.Gly594=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1699608	NM_005548.3(KARS1):c.1734G>C (p.Lys578Asn)	KARS1 (K422N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934956	NM_005548.3(KARS1):c.1726G>A (p.Glu576Lys)	KARS1 (E420K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804949	NM_005548.3(KARS1):c.1724C>G (p.Pro575Arg)	KARS1 (P575R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681500	NM_005548.3(KARS1):c.1704T>C (p.Leu568=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206517	NM_005548.3(KARS1):c.1696-21G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293602	NM_005548.3(KARS1):c.1695+247G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182881	NM_005548.3(KARS1):c.1695+187del	KARS1	Deletion (intron variant)	not provided	GBenign
Select item 985748	NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)	KARS1 (T403M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 226681	NM_005548.3(KARS1):c.1674C>T (p.Leu558=)	KARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1327152	NM_005548.3(KARS1):c.1663G>A (p.Ala555Thr)	KARS1 (A399T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2573743	NM_005548.3(KARS1):c.1634C>G (p.Ala545Gly)	KARS1 (A389G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576964	NM_005548.3(KARS1):c.1601G>A (p.Cys534Tyr)	KARS1 (C378Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1800985	NM_005548.3(KARS1):c.1592A>G (p.Glu531Gly)	KARS1 (E375G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696996	NM_005548.3(KARS1):c.1585A>G (p.Ile529Val)	KARS1 (I373V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1187582	NM_005548.3(KARS1):c.1552-220del	KARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1210800	NM_005548.3(KARS1):c.1552-257C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190528	NM_005548.3(KARS1):c.1552-263C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255057	NM_005548.3(KARS1):c.1552-273G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245802	NM_005548.3(KARS1):c.1552-315A>C	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186567	NM_005548.3(KARS1):c.1551+302G>T	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193986	NM_005548.3(KARS1):c.1551+211T>C	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257227	NM_005548.3(KARS1):c.1551+207C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263781	NM_005548.3(KARS1):c.1551+123dup	KARS1	Duplication (intron variant)	not provided	GBenign
Select item 2574736	NM_005548.3(KARS1):c.1540G>T (p.Glu514Ter)	KARS1 (E358* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1299692	NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln)	KARS1 (R351Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 694746	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	KARS1, LOC126862402 (A526V +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +4 more	GConflicting classifications of pathogenicity
Select item 228757	NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)	LOC126862402, KARS1 (I523M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504855	NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser)	LOC126862402, KARS1 (T511S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 320631	NM_005548.3(KARS1):c.1425-13C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214306	NM_005548.3(KARS1):c.1425-31T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228531	NM_005548.3(KARS1):c.1424+253C>G	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195083	NM_005548.3(KARS1):c.1424+246T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218386	NM_005548.3(KARS1):c.1424+49G>A	LOC126862402, KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200128	NM_005548.3(KARS1):c.1424+34C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680870	NM_005548.3(KARS1):c.1380A>C (p.Thr460=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735418	NM_005548.3(KARS1):c.1368C>T (p.Cys456=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576867	NM_005548.3(KARS1):c.1367G>A (p.Cys456Tyr)	KARS1, LOC126862402 (C300Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320632	NM_005548.3(KARS1):c.1350G>C (p.Glu450Asp)	KARS1, LOC126862402 (E478D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1255079	NM_005548.3(KARS1):c.1339-143TAA[7]	KARS1, LOC126862402	Microsatellite (intron variant)	not provided	GBenign
Select item 1288871	NM_005548.3(KARS1):c.1339-272C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227428	NM_005548.3(KARS1):c.1338+169G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182636	NM_005548.3(KARS1):c.1338+61C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293596	NM_005548.3(KARS1):c.1338+47T>C	KARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1703292	NM_005548.3(KARS1):c.1335C>G (p.Asp445Glu)	KARS1 (D289E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2499929	NM_005548.3(KARS1):c.1326G>C (p.Arg442Ser)	KARS1 (R286S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226679	NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys)	KARS1 (R448C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 682040	NM_005548.3(KARS1):c.1253-77del	KARS1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1218446	NM_005548.3(KARS1):c.1252+9A>C	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667251	NM_005548.3(KARS1):c.1232C>T (p.Thr411Met)	KARS1 (T411M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1710877	NM_005548.3(KARS1):c.1225C>G (p.Pro409Ala)	KARS1 (P253A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439842	NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)	KARS1 (R421Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1318985	NM_005548.3(KARS1):c.1175G>A (p.Arg392Gln)	KARS1 (R236Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 746153	NM_005548.3(KARS1):c.1161C>T (p.Phe387=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1682423	NM_005548.3(KARS1):c.1097C>T (p.Thr366Ile)	KARS1 (T210I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226678	NM_005548.3(KARS1):c.1079-7C>T	KARS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1215605	NM_005548.3(KARS1):c.1079-14G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 60753	NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)	KARS1 (D377N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993573	NM_005548.3(KARS1):c.979A>G (p.Ile327Val)	KARS1 (I171V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1804509	NM_005548.3(KARS1):c.973G>A (p.Glu325Lys)	KARS1 (E169K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426539	NM_005548.3(KARS1):c.967C>T (p.Arg323Trp)	KARS1 (R351W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 679026	NM_005548.3(KARS1):c.916-85A>G	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181040	NM_005548.3(KARS1):c.916-110C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193703	NM_005548.3(KARS1):c.916-147G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233746	NM_005548.3(KARS1):c.916-180C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289889	NM_005548.3(KARS1):c.916-189G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179524	NM_005548.3(KARS1):c.915+280G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293593	NM_005548.3(KARS1):c.915+117G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291713	NM_005548.3(KARS1):c.915+56C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426540	NM_005548.3(KARS1):c.904C>T (p.Leu302Phe)	KARS1 (L330F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341665	NM_005548.3(KARS1):c.874A>G (p.Met292Val)	KARS1 (M136V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315745	NM_005548.3(KARS1):c.872A>G (p.Asp291Gly)	KARS1 (D135G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 637712	NM_005548.3(KARS1):c.822C>G (p.Ile274Met)	KARS1 (I302M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1064651	NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)	KARS1 (I110T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89 +1 more	GUncertain significance
Select item 1271841	NM_005548.3(KARS1):c.796-135C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189947	NM_005548.3(KARS1):c.796-282C>A	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270747	NM_005548.3(KARS1):c.795+312C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291749	NM_005548.3(KARS1):c.795+281_795+284del	KARS1	Deletion (intron variant)	not provided	GBenign
Select item 504925	NM_005548.3(KARS1):c.759T>C (p.Tyr253=)	KARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3343879	NM_005548.3(KARS1):c.731T>G (p.Phe244Cys)	KARS1 (F244C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420262	NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)	KARS1 (F267L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2429527	NM_005548.3(KARS1):c.699C>G (p.Asp233Glu)	KARS1 (D233E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363536	NM_005548.3(KARS1):c.697G>C (p.Asp233His)	KARS1 (D233H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547985	NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)	KARS1 (R258S +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness +2 more	GConflicting classifications of pathogenicity
Select item 320636	NM_005548.3(KARS1):c.669+6C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 227454	NM_005548.3(KARS1):c.612A>G (p.Thr204=)	KARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 226684	NM_005548.3(KARS1):c.601T>C (p.Tyr201His)	KARS1 (Y229H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1316098	NM_005548.3(KARS1):c.600G>A (p.Pro200=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224983	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1 (P200L +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +7 more	GPathogenic/Likely pathogenic
Select item 1181301	NM_005548.3(KARS1):c.483-29T>C	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234869	NM_005548.3(KARS1):c.483-132G>T	KARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320638	NM_005548.3(KARS1):c.482+8G>A	KARS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3372293	NM_005548.3(KARS1):c.454G>A (p.Val152Met)	KARS1 (V152M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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