Related gene-specific medical variations for Gene (Select 3735) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362675	NM_005548.3(KARS1):c.533G>A (p.Arg178Gln)	KARS1 (R178Q +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 3361364	NM_005548.3(KARS1):c.1393C>T (p.His465Tyr)	KARS1 (H309Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359991	NM_005548.3(KARS1):c.658C>T (p.Leu220Phe)	KARS1 (L220F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359724	NM_005548.3(KARS1):c.1435A>G (p.Lys479Glu)	KARS1 (K323E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287365	NM_005548.3(KARS1):c.1368C>G (p.Cys456Trp)	KARS1, LOC126862402 (C300W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257282	NM_005548.3(KARS1):c.1346G>C (p.Gly449Ala)	KARS1, LOC126862402 (G293A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234876	NM_005548.3(KARS1):c.1486T>A (p.Cys496Ser)	KARS1, LOC126862402 (C340S +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 3112699	NM_005548.3(KARS1):c.35A>G (p.Asp12Gly)	KARS1, LOC130059450 (D12G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3112695	NM_005548.3(KARS1):c.1A>G (p.Met1Val)	KARS1, LOC130059450 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely pathogenic
Select item 3112690	NM_005548.3(KARS1):c.1490A>T (p.Asn497Ile)	KARS1, LOC126862402 (N341I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112688	NM_005548.3(KARS1):c.1373A>G (p.Asn458Ser)	KARS1, LOC126862402 (N302S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054075	NM_005548.3(KARS1):c.1389T>C (p.Cys463=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	KARS1-related disorder	GLikely benign
Select item 3043310	NM_005548.3(KARS1):c.-4G>A	KARS1, LOC130059450	Single nucleotide variant (5 prime UTR variant)	KARS1-related disorder	GLikely benign
Select item 3036028	NM_005548.3(KARS1):c.-10C>T	KARS1, LOC130059450	Single nucleotide variant (5 prime UTR variant)	KARS1-related disorder	GLikely benign
Select item 3024853	NM_005548.3(KARS1):c.1494G>A (p.Ala498=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868499	NM_005548.3(KARS1):c.1420A>T (p.Lys474Ter)	KARS1, LOC126862402 (K318* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2634369	NM_005548.3(KARS1):c.1490A>G (p.Asn497Ser)	KARS1, LOC126862402 (N341S +2 more)	Single nucleotide variant (missense variant)	KARS1-related disorder	GUncertain significance
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 2502534	NM_005548.3(KARS1):c.2T>A (p.Met1Lys)	KARS1, LOC130059450 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2460084	NM_005548.3(KARS1):c.1349A>C (p.Glu450Ala)	KARS1, LOC126862402 (E450A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432960	NM_005548.3(KARS1):c.1040A>G (p.Tyr347Cys)	KARS1 (Y191C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432958	NM_005548.3(KARS1):c.1051A>G (p.Met351Val)	KARS1 (M195V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428625	NM_005548.3(KARS1):c.1425-5C>T	LOC126862402, KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190335	NM_005548.3(KARS1):c.1425-3T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2162561	NM_005548.3(KARS1):c.1425-10C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137846	NM_005548.3(KARS1):c.1382T>G (p.Phe461Cys)	KARS1, LOC126862402 (F305C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2118918	NM_005548.3(KARS1):c.1480G>C (p.Glu494Gln)	KARS1, LOC126862402 (E494Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956564	NM_005548.3(KARS1):c.1404A>T (p.Ile468=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1925874	NM_005548.3(KARS1):c.1339-17T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920388	NM_005548.3(KARS1):c.1339-6A>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1687365	NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln)	KARS1, LOC126862402 (E297Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89	GUncertain significance
Select item 1682415	NM_005548.3(KARS1):c.1356G>A (p.Leu452=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682414	NM_005548.3(KARS1):c.1424+6A>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1682413	NM_005548.3(KARS1):c.1464G>A (p.Leu488=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1331026	NM_005548.3(KARS1):c.232A>G (p.Lys78Glu)	KARS1 (K106E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1330865	NM_005548.3(KARS1):c.1078+7C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1317221	NM_005548.3(KARS1):c.-11C>T	KARS1, LOC130059450	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1255079	NM_005548.3(KARS1):c.1339-143TAA[7]	KARS1, LOC126862402	Microsatellite (intron variant)	not provided	GBenign
Select item 1228531	NM_005548.3(KARS1):c.1424+253C>G	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218386	NM_005548.3(KARS1):c.1424+49G>A	LOC126862402, KARS1	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 1200128	NM_005548.3(KARS1):c.1424+34C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195083	NM_005548.3(KARS1):c.1424+246T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 808110	NM_005548.3(KARS1):c.1450G>A (p.Glu484Lys)	KARS1, LOC126862402 (E484K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735861	NM_005548.3(KARS1):c.1476G>A (p.Lys492=)	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 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 680870	NM_005548.3(KARS1):c.1380A>C (p.Thr460=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 679582	NM_005548.3(KARS1):c.62+56A>G	KARS1, LOC130059450	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 560389	NM_005548.3(KARS1):c.1354del (p.Leu452fs)	LOC126862402, KARS1 (L452fs +2 more)	Deletion (frameshift variant)	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS +4 more	GPathogenic
Select item 521088	NM_005548.3(KARS1):c.1472T>C (p.Met491Thr)	KARS1, LOC126862402 (M519T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 437932	NM_005548.2(KARS1):c.[1430G>A];[1513C>T]			Leukoencephalopathy +1 more	GPathogenic
Select item 437931	NM_005548.3(KARS1):c.1430G>A (p.Arg477His)	LOC126862402, KARS1 (R477H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89	GPathogenic
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 320631	NM_005548.3(KARS1):c.1425-13C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 228761	NM_005548.3(KARS1):c.5C>T (p.Ala2Val)	KARS1, LOC130059450 (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 228759	NM_005548.3(KARS1):c.-1G>T	KARS1, LOC130059450	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 228756	NM_005548.3(KARS1):c.1438G>C (p.Glu480Gln)	LOC126862402, KARS1 (E508Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 225009	NM_005548.3(KARS1):c.22G>T (p.Glu8Ter)	KARS1, LOC130059450 (E8*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely pathogenic

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Links from Gene

Items: 63