LIG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1977960	NM_000234.3(LIG1):c.2730C>G (p.Asp910Glu)	LIG1 (D880E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417290	NM_000234.3(LIG1):c.2725G>A (p.Glu909Lys)	LIG1 (E841K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984397	NM_000234.3(LIG1):c.2724C>T (p.Gly908=)	LIG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1375757	NM_000234.3(LIG1):c.2721A>C (p.Gln907His)	LIG1 (Q839H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894482	NM_000234.3(LIG1):c.2718A>G (p.Gln906=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1164975	NM_000234.3(LIG1):c.2700A>G (p.Gln900=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2081434	NM_000234.3(LIG1):c.2693G>A (p.Arg898Gln)	LIG1 (R868Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910178	NM_000234.3(LIG1):c.2692C>T (p.Arg898Trp)	LIG1 (R867W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2275839	NM_000234.3(LIG1):c.2681C>G (p.Ala894Gly)	LIG1 (A826G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2969478	NM_000234.3(LIG1):c.2677-4_2677-3del	LIG1	Deletion (intron variant)	not provided	GLikely benign
Select item 2192921	NM_000234.3(LIG1):c.2677-4G>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574579	NM_000234.3(LIG1):c.2677-4G>C	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907285	NM_000234.3(LIG1):c.2677-15A>G	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604844	NM_000234.3(LIG1):c.2677-20G>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822728	NM_000234.3(LIG1):c.2676+11G>C	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093429	NM_000234.3(LIG1):c.2671G>A (p.Ala891Thr)	LIG1 (A890T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2487747	NM_000234.3(LIG1):c.2665A>G (p.Thr889Ala)	LIG1 (T888A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1523553	NM_000234.3(LIG1):c.2653G>A (p.Glu885Lys)	LIG1 (E855K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1169235	NM_000234.3(LIG1):c.2652G>A (p.Pro884=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2242368	NM_000234.3(LIG1):c.2651C>T (p.Pro884Leu)	LIG1 (P854L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1486312	NM_000234.3(LIG1):c.2645A>G (p.Lys882Arg)	LIG1 (K852R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060636	NM_000234.3(LIG1):c.2643C>T (p.Asp881=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1605167	NM_000234.3(LIG1):c.2628T>C (p.Ile876=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1309635	NM_000234.3(LIG1):c.2620C>T (p.Arg874Trp)	LIG1 (R806W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818292	NM_000234.3(LIG1):c.2616C>T (p.Phe872=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	LIG1-related condition +1 more	GLikely benign
Select item 2179201	NM_000234.3(LIG1):c.2612G>A (p.Arg871His)	LIG1 (R841H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1510943	NM_000234.3(LIG1):c.2611C>T (p.Arg871Cys)	LIG1 (R803C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011589	NM_000234.3(LIG1):c.2596A>T (p.Lys866Ter)	LIG1 (K836* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1646903	NM_000234.3(LIG1):c.2584-4G>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169832	NM_000234.3(LIG1):c.2584-10G>A	LIG1	Single nucleotide variant (intron variant)	LIG1-related condition +1 more	GBenign/Likely benign
Select item 1533339	NM_000234.3(LIG1):c.2584-11C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637424	NM_000234.3(LIG1):c.2584-12C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669482	NM_000234.3(LIG1):c.2584-14_2584-13delinsAA	LIG1	Indel (intron variant)	not provided	GLikely benign
Select item 1642048	NM_000234.3(LIG1):c.2583+11G>C	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922353	NM_000234.3(LIG1):c.2580C>T (p.Gly860=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1485790	NM_000234.3(LIG1):c.2578G>T (p.Gly860Cys)	LIG1 (G792C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176463	NM_000234.3(LIG1):c.2576G>A (p.Arg859Gln)	LIG1 (R859Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1628076	NM_000234.3(LIG1):c.2575C>A (p.Arg859=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982848	NM_000234.3(LIG1):c.2574G>A (p.Ala858=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349808	NM_000234.3(LIG1):c.2572G>T (p.Ala858Ser)	LIG1 (A858S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1645420	NM_000234.3(LIG1):c.2559C>T (p.Pro853=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804771	NM_000234.3(LIG1):c.2553C>G (p.Leu851=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1390130	NM_000234.3(LIG1):c.2539G>T (p.Ala847Ser)	LIG1 (A779S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1610578	NM_000234.3(LIG1):c.2538C>T (p.Cys846=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1369861	NM_000234.3(LIG1):c.2535G>T (p.Lys845Asn)	LIG1 (K815N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060640	NM_000234.3(LIG1):c.2523G>A (p.Val841=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2208686	NM_000234.3(LIG1):c.2518G>A (p.Ala840Thr)	LIG1 (A810T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2129773	NM_000234.3(LIG1):c.2517C>A (p.Ser839Arg)	LIG1 (S808R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068262	NM_000234.3(LIG1):c.2517C>T (p.Ser839=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2421457	NM_000234.3(LIG1):c.2511C>T (p.Asp837=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786516	NM_000234.3(LIG1):c.2499C>T (p.Asp833=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982706	NM_000234.3(LIG1):c.2497G>C (p.Asp833His)	LIG1 (D803H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966498	NM_000234.3(LIG1):c.2496C>G (p.Pro832=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1620617	NM_000234.3(LIG1):c.2496C>T (p.Pro832=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2695555	NM_000234.3(LIG1):c.2472G>T (p.Val824=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517724	NM_000234.3(LIG1):c.2470G>A (p.Val824Met)	LIG1 (V823M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998101	NM_000234.3(LIG1):c.2464C>T (p.Pro822Ser)	LIG1 (P822S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1380881	NM_000234.3(LIG1):c.2461_2462delinsTC (p.Arg821Ser)	LIG1 (R820S +4 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1347628	NM_000234.3(LIG1):c.2446G>C (p.Val816Leu)	LIG1 (V785L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2504596	NM_000234.3(LIG1):c.2444del (p.Leu815fs)	LIG1 (L747fs +4 more)	Deletion (frameshift variant +1 more)	Immunodeficiency 96	GLikely pathogenic
Select item 2996705	NM_000234.3(LIG1):c.2442G>A (p.Ala814=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 403033	NM_000234.3(LIG1):c.2442G>C (p.Ala814=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1474100	NM_000234.3(LIG1):c.2441C>T (p.Ala814Val)	LIG1 (A783V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916663	NM_000234.3(LIG1):c.2440-13C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977684	NM_000234.3(LIG1):c.2440-14T>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165040	NM_000234.3(LIG1):c.2439+19G>A	LIG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1636529	NM_000234.3(LIG1):c.2439+18C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168771	NM_000234.3(LIG1):c.2439+12C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609202	NM_000234.3(LIG1):c.2439+11G>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148895	NM_000234.3(LIG1):c.2439+7C>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1001449	NM_000234.3(LIG1):c.2439+6C>A	LIG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906353	NM_000234.3(LIG1):c.2438A>G (p.Lys813Arg)	LIG1 (K783R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994283	NM_000234.3(LIG1):c.2406_2407inv (p.Glu803Lys)	LIG1 (E772K +4 more)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 403034	NM_000234.3(LIG1):c.2406T>C (p.Asp802=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2962708	NM_000234.3(LIG1):c.2388T>G (p.Leu796=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876527	NM_000234.3(LIG1):c.2386-10C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976511	NM_000234.3(LIG1):c.2386-14C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133228	NM_000234.3(LIG1):c.2386-15G>A	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635298	NM_000234.3(LIG1):c.2386-16C>T	LIG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628143	NM_000234.3(LIG1):c.2386-36T>C	LIG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628229	NM_000234.3(LIG1):c.2386-98T>C	LIG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1966570	NM_000234.3(LIG1):c.2385+13_2385+14del	LIG1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1930325	NM_000234.3(LIG1):c.2385+5T>C	LIG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2088810	NM_000234.3(LIG1):c.2385+4C>A	LIG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2104282	NM_000234.3(LIG1):c.2379A>G (p.Ile793Met)	LIG1 (I792M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1538687	NM_000234.3(LIG1):c.2367G>A (p.Glu789=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2085229	NM_000234.3(LIG1):c.2359A>C (p.Ser787Arg)	LIG1 (S756R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1411939	NM_000234.3(LIG1):c.2359A>T (p.Ser787Cys)	LIG1 (S756C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977050	NM_000234.3(LIG1):c.2352C>T (p.Asp784=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1515346	NM_000234.3(LIG1):c.2350G>A (p.Asp784Asn)	LIG1 (D716N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1587044	NM_000234.3(LIG1):c.2349C>T (p.Tyr783=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1430448	NM_000234.3(LIG1):c.2344T>G (p.Ser782Ala)	LIG1 (S782A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167936	NM_000234.3(LIG1):c.2343C>T (p.Ala781=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2264922	NM_000234.3(LIG1):c.2342C>T (p.Ala781Val)	LIG1 (A751V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2117203	NM_000234.3(LIG1):c.2340G>A (p.Leu780=)	LIG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1486062	NM_000234.3(LIG1):c.2330G>A (p.Gly777Asp)	LIG1 (G709D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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