3980[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496422	NM_013975.4(LIG3):c.67C>T (p.Leu23=)	LIG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219744	NM_013975.4(LIG3):c.70T>G (p.Phe24Val)	LIG3 (F24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577091	NM_013975.4(LIG3):c.74G>A (p.Arg25Gln)	LIG3 (R25Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1343942	NM_013975.4(LIG3):c.86G>A (p.Trp29Ter)	LIG3 (W29*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 2504048	NM_013975.4(LIG3):c.123A>G (p.Thr41=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2308179	NM_013975.4(LIG3):c.275G>A (p.Arg92Gln)	LIG3 (R92Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118719	NM_013975.4(LIG3):c.283G>A (p.Val95Met)	LIG3 (V95M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461891	NM_013975.4(LIG3):c.302G>A (p.Gly101Asp)	LIG3 (G101D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327732	NM_013975.4(LIG3):c.353G>A (p.Arg118Gln)	LIG3 (R118Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1192246	NM_013975.4(LIG3):c.382T>G (p.Ser128Ala)	LIG3 (S128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1217272	NM_013975.4(LIG3):c.446G>A (p.Arg149Gln)	LIG3 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 933155	NM_013975.4(LIG3):c.452G>A (p.Arg151Gln)	LIG3 (R151Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 632876	NM_013975.4(LIG3):c.471C>A (p.Ile157=)	LIG3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2226226	NM_013975.4(LIG3):c.548-1G>C	LIG3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2390293	NM_013975.4(LIG3):c.643G>A (p.Ala215Thr)	LIG3 (A215T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 782153	NM_013975.4(LIG3):c.670C>T (p.Arg224Trp)	LIG3 (R224W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2249925	NM_013975.4(LIG3):c.671G>T (p.Arg224Leu)	LIG3 (R224L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290653	NM_013975.4(LIG3):c.677T>C (p.Phe226Ser)	LIG3 (F226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342269	NM_013975.4(LIG3):c.698C>G (p.Pro233Arg)	LIG3 (P233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290655	NM_013975.4(LIG3):c.713A>T (p.Glu238Val)	LIG3 (E238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987864	NM_013975.4(LIG3):c.722C>T (p.Ser241Leu)	LIG3 (S241L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2504049	NM_013975.4(LIG3):c.744T>A (p.Ser248Arg)	LIG3 (S248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372139	NM_013975.4(LIG3):c.790C>T (p.Arg264Trp)	LIG3 (R264W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343938	NM_013975.4(LIG3):c.799C>T (p.Arg267Ter)	LIG3	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2535344	NM_013975.4(LIG3):c.842C>G (p.Thr281Arg)	LIG3 (T281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603214	NM_013975.4(LIG3):c.864C>A (p.Asp288Glu)	LIG3 (D288E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219510	NM_013975.4(LIG3):c.881C>T (p.Ser294Leu)	LIG3 (S294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290650	NM_013975.4(LIG3):c.901G>A (p.Gly301Ser)	LIG3 (G301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584977	NM_013975.4(LIG3):c.967G>A (p.Asp323Asn)	LIG3 (D323N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GUncertain significance
Select item 3290654	NM_013975.4(LIG3):c.976A>T (p.Ile326Phe)	LIG3 (I326F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290652	NM_013975.4(LIG3):c.1018G>A (p.Asp340Asn)	LIG3 (D340N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992261	NM_013975.4(LIG3):c.1028G>A (p.Arg343Gln)	LIG3 (R343Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1677204	NM_013975.4(LIG3):c.1041+11C>T	LIG3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1878384	NM_013975.4(LIG3):c.1073T>C (p.Phe358Ser)	LIG3 (F358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118711	NM_013975.4(LIG3):c.1097C>G (p.Pro366Arg)	LIG3 (P366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352171	NM_013975.4(LIG3):c.1129G>A (p.Val377Met)	LIG3 (V377M)	Single nucleotide variant (missense variant)	LIG3-related disorder	GUncertain significance
Select item 2367724	NM_013975.4(LIG3):c.1148G>A (p.Arg383Gln)	LIG3 (R383Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063752	NM_013975.4(LIG3):c.1166A>G (p.Lys389Arg)	LIG3 (K389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 918101	NM_013975.4(LIG3):c.1193A>G (p.Gln398Arg)	LIG3 (Q398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496412	NM_013975.4(LIG3):c.1208+3G>T	LIG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2524450	NM_013975.4(LIG3):c.1256A>G (p.Asp419Gly)	LIG3 (D419G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026092	NM_013975.4(LIG3):c.1286+6T>C	LIG3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3339909	NM_013975.4(LIG3):c.1293C>T (p.Asp431=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 929075	NM_013975.4(LIG3):c.1332G>A (p.Ser444=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3118712	NM_013975.4(LIG3):c.1372G>A (p.Ala458Thr)	LIG3 (A458T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715083	NM_013975.4(LIG3):c.1383G>A (p.Val461=)	LIG3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3375328	NM_013975.4(LIG3):c.1428G>A (p.Ser476=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 36472	NM_013975.4(LIG3):c.1440T>C (p.Pro480=)	LIG3	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 3118713	NM_013975.4(LIG3):c.1509G>A (p.Met503Ile)	LIG3 (M503I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025571	NM_013975.4(LIG3):c.1515T>G (p.Ser505=)	LIG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929074	NM_013975.4(LIG3):c.1555A>G (p.Asn519Asp)	LIG3 (N519D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239292	NM_013975.4(LIG3):c.1604C>T (p.Pro535Leu)	LIG3 (P535L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343935	NM_013975.4(LIG3):c.1611G>C (p.Lys537Asn)	LIG3	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343941	NM_013975.4(LIG3):c.1611+209G>A	LIG3	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 496413	NM_013975.4(LIG3):c.1690A>C (p.Ile564Leu)	LIG3 (I564L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554486	NM_013975.4(LIG3):c.1741A>C (p.Lys581Gln)	LIG3 (K581Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290649	NM_013975.4(LIG3):c.1756C>G (p.Gln586Glu)	LIG3 (Q586E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581578	NM_013975.4(LIG3):c.1824-13C>T	LIG3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1343939	NM_013975.4(LIG3):c.1826C>T (p.Pro609Leu)	LIG3	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 496414	NM_013975.4(LIG3):c.1835A>T (p.Glu612Val)	LIG3 (E612V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2515217	NM_013975.4(LIG3):c.1841G>A (p.Arg614Gln)	LIG3 (R614Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345212	NM_013975.4(LIG3):c.1856A>C (p.Asp619Ala)	LIG3 (D619A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691283	NM_013975.4(LIG3):c.1857C>T (p.Asp619=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1723431	NM_013975.4(LIG3):c.1859A>G (p.Asn620Ser)	LIG3 (N620S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118714	NM_013975.4(LIG3):c.1873C>G (p.Pro625Ala)	LIG3 (P625A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250603	NM_013975.4(LIG3):c.1912-3C>T	LIG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3118715	NM_013975.4(LIG3):c.1942C>T (p.Arg648Trp)	LIG3 (R648W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251478	NM_013975.4(LIG3):c.1960T>C (p.Leu654=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2227350	NM_013975.4(LIG3):c.1984G>A (p.Val662Met)	LIG3 (V662M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 933180	NM_013975.4(LIG3):c.1990-17_1990-14del	LIG3	Deletion (intron variant)	not specified	GBenign
Select item 2540815	NM_013975.4(LIG3):c.2096A>G (p.Tyr699Cys)	LIG3 (Y699C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324477	NM_013975.4(LIG3):c.2114-3dup	LIG3	Duplication (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2637535	NM_013975.4(LIG3):c.2133C>T (p.Phe711=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3118716	NM_013975.4(LIG3):c.2173A>G (p.Thr725Ala)	LIG3 (T725A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632875	NM_013975.4(LIG3):c.2200G>C (p.Asp734His)	LIG3 (D734H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496415	NM_013975.4(LIG3):c.2211G>A (p.Thr737=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2224842	NM_013975.4(LIG3):c.2242G>T (p.Val748Leu)	LIG3 (V748L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118717	NM_013975.4(LIG3):c.2265C>A (p.Ser755Arg)	LIG3 (S755R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977682	NM_013975.4(LIG3):c.2316C>T (p.Ile772=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 977726	NM_013975.4(LIG3):c.2331+19G>A	LIG3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2581579	NM_013975.4(LIG3):c.2332-19G>C	LIG3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 496416	NM_013975.4(LIG3):c.2367C>T (p.Phe789=)	LIG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2531661	NM_013975.4(LIG3):c.2393A>C (p.Asp798Ala)	LIG3 (D798A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3339908	NM_013975.4(LIG3):c.2403C>T (p.Ser801=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1405810	NM_013975.4(LIG3):c.2426G>A (p.Arg809Gln)	LIG3 (R809Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343940	NM_013975.4(LIG3):c.2431C>T (p.Arg811Ter)	LIG3	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 496417	NM_013975.4(LIG3):c.2472A>G (p.Gln824=)	LIG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3375105	NM_013975.4(LIG3):c.2479-7G>A	LIG3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2533982	NM_013975.4(LIG3):c.2593G>A (p.Val865Met)	LIG3 (V865M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699182	NM_013975.4(LIG3):c.2653_2654del (p.Leu884_Ser885insTer)	LIG3	Deletion (nonsense)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GLikely pathogenic
Select item 929073	NM_013975.4(LIG3):c.2660C>T (p.Ser887Phe)	LIG3 (S887F)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 496418	NM_013975.4(LIG3):c.2701G>A (p.Ala901Thr)	LIG3 (A901T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 974992	NM_013975.4(LIG3):c.2712G>C (p.Val904=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2637536	NM_013975.4(LIG3):c.2727C>G (p.Ala909=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2305898	NM_013975.4(LIG3):c.2731_2732del (p.Lys911fs)	LIG3 (K911fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2517619	NM_013975.4(LIG3):c.2774A>C (p.Asp925Ala)	LIG3 (D925A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357010	NM_013975.4(LIG3):c.2780C>T (p.Thr927Met)	LIG3 (T927M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 717561	NM_013975.4(LIG3):c.2796+6G>A	LIG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1339688	NM_013975.4(LIG3):c.2796+20C>T	LIG3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3054061	NM_013975.4(LIG3):c.2809A>G (p.Ile937Val)	LIG3 (I937V)	Single nucleotide variant (missense variant)	LIG3-related disorder	GLikely benign

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