3735[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 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)	Autosomal recessive nonsyndromic hearing loss 89 +2 more	GBenign
Select item 1225810	NM_005548.3(KARS1):c.1782C>T (p.Gly594=)	KARS1	Single nucleotide variant (synonymous variant)	KARS1-related condition +1 more	GBenign
Select item 2001734	NM_005548.3(KARS1):c.1753A>T (p.Thr585Ser)	KARS1 (T429S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682407	NM_005548.3(KARS1):c.1753A>G (p.Thr585Ala)	KARS1 (T429A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911115	NM_005548.3(KARS1):c.1752C>G (p.Thr584=)	KARS1	Single nucleotide variant (synonymous variant)	KARS1-related condition +1 more	GLikely benign
Select item 1930509	NM_005548.3(KARS1):c.1745_1746delinsAG (p.Val582Glu)	KARS1 (V426E +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1120140	NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr)	KARS1 (N425T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 930074	NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del)	KARS1 (K423del +2 more)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
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 1906822	NM_005548.3(KARS1):c.1725C>T (p.Pro575=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1898978	NM_005548.3(KARS1):c.1716C>T (p.Ala572=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732328	NM_005548.3(KARS1):c.1711C>T (p.Pro571Ser)	KARS1 (P415S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753241	NM_005548.3(KARS1):c.1707G>C (p.Leu569=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681500	NM_005548.3(KARS1):c.1704T>C (p.Leu568=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 997983	NM_005548.3(KARS1):c.1702C>T (p.Leu568Phe)	KARS1 (L596F +2 more)	Single nucleotide variant (missense variant)	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS	GPathogenic
Select item 1675188	NM_005548.3(KARS1):c.1696-2A>C	KARS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 89	GPathogenic
Select item 2050876	NM_005548.3(KARS1):c.1696-11A>G	KARS1	Single nucleotide variant (intron 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 2959755	NM_005548.3(KARS1):c.1695+13C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847883	NM_005548.3(KARS1):c.1695+12C>A	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320626	NM_005548.3(KARS1):c.1695+5G>A	KARS1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 89	GLikely benign
Select item 320627	NM_005548.3(KARS1):c.1695+4C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1682408	NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile)	KARS1 (N407I +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2010002	NM_005548.3(KARS1):c.1679A>G (p.Asp560Gly)	KARS1 (D404G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505417	NM_005548.3(KARS1):c.1677G>A (p.Thr559=)	KARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 985748	NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)	KARS1 (T403M +2 more)	Single nucleotide variant (missense variant)	not provided +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 specified +1 more	GBenign/Likely benign
Select item 2582949	NM_005548.3(KARS1):c.1671T>C (p.Phe557=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327152	NM_005548.3(KARS1):c.1663G>A (p.Ala555Thr)	KARS1 (A399T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735957	NM_005548.3(KARS1):c.1662C>T (p.Val554=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682410	NM_005548.3(KARS1):c.1660G>A (p.Val554Ile)	KARS1 (V398I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682409	NM_005548.3(KARS1):c.1660G>T (p.Val554Phe)	KARS1 (V398F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042303	NM_005548.3(KARS1):c.1658G>A (p.Arg553Gln)	KARS1 (R397Q +2 more)	Single nucleotide variant (missense variant)	KARS1-related condition	GUncertain significance
Select item 2504075	NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter)	KARS1 (R397* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1951438	NM_005548.3(KARS1):c.1649G>A (p.Gly550Asp)	KARS1 (G550D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2570949	NM_005548.3(KARS1):c.1629C>A (p.Pro543=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982099	NM_005548.3(KARS1):c.1626C>T (p.Pro542=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608198	NM_005548.3(KARS1):c.1615T>C (p.Tyr539His)	KARS1 (Y383H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971215	NM_005548.3(KARS1):c.1611G>C (p.Leu537=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991320	NM_005548.3(KARS1):c.1609C>T (p.Leu537=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3039806	NM_005548.3(KARS1):c.1590T>C (p.Asp530=)	KARS1	Single nucleotide variant (synonymous variant)	KARS1-related condition	GLikely benign
Select item 1696996	NM_005548.3(KARS1):c.1585A>G (p.Ile529Val)	KARS1 (I373V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924151	NM_005548.3(KARS1):c.1573G>C (p.Glu525Gln)	KARS1 (E525Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997977	NM_005548.3(KARS1):c.1573G>A (p.Glu525Lys)	KARS1 (E525K +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GPathogenic
Select item 1682411	NM_005548.3(KARS1):c.1570G>C (p.Asp524His)	KARS1 (D368H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740568	NM_005548.3(KARS1):c.1552-6T>G	KARS1	Single nucleotide variant (intron variant)	KARS1-related condition +1 more	GLikely benign
Select item 2759402	NM_005548.3(KARS1):c.1552-14C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911812	NM_005548.3(KARS1):c.1552-16C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2103278	NM_005548.3(KARS1):c.1551+14C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 227453	NM_005548.3(KARS1):c.1551+10G>A	KARS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1975550	NM_005548.3(KARS1):c.1542A>G (p.Glu514=)	KARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1682412	NM_005548.3(KARS1):c.1525C>T (p.Arg509Trp)	KARS1 (R353W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299692	NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln)	KARS1 (R351Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2458567	NM_005548.3(KARS1):c.1519C>T (p.Arg507Trp)	KARS1 (R351W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499553	NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)	KARS1 (P349R +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GLikely pathogenic
Select item 1687372	NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala)	KARS1 (P349A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89	GUncertain significance
Select item 437930	NM_005548.3(KARS1):c.1513C>T (p.Pro505Ser)	KARS1 (P505S +2 more)	Single nucleotide variant (missense variant)	Deafness, congenital, and adult-onset progressive leukoencephalopathy	GPathogenic
Select item 3024853	NM_005548.3(KARS1):c.1494G>A (p.Ala498=)	LOC126862402, KARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 694746	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	KARS1, LOC126862402 (A526V +2 more)	Single nucleotide variant (missense variant)	Leukodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 2634369	NM_005548.3(KARS1):c.1490A>G (p.Asn497Ser)	KARS1, LOC126862402 (N341S +2 more)	Single nucleotide variant (missense variant)	KARS1-related condition	GUncertain significance
Select item 1944778	NM_005548.3(KARS1):c.1486T>G (p.Cys496Gly)	KARS1, LOC126862402 (C496G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596471	NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg)	KARS1, LOC126862402 (C524R +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 228757	NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)	KARS1, LOC126862402 (I523M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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