"Ambry Genetics"[submitter] AND "LIG4"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 640061	NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu)	LIG4 (I888L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 3290658	NM_206937.2(LIG4):c.2599G>A (p.Glu867Lys)	LIG4 (E867K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290659	NM_206937.2(LIG4):c.2594T>C (p.Ile865Thr)	LIG4 (I798T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 418285	NM_206937.2(LIG4):c.2584C>T (p.His862Tyr)	LIG4 (H862Y +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 942881	NM_206937.2(LIG4):c.2486T>C (p.Leu829Pro)	LIG4 (L762P +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 2056100	NM_206937.2(LIG4):c.2470G>T (p.Ala824Ser)	LIG4 (A836S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1897733	NM_206937.2(LIG4):c.2462A>G (p.Asp821Gly)	LIG4 (D821G +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 1060361	NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys)	LIG4 (R748C +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 7673	NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	LIG4 (R814* +2 more)	Single nucleotide variant (nonsense)	prenatal LIG4 syndrome with aqueductal stenosis +4 more	GPathogenic/Likely pathogenic
Select item 647972	NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala)	LIG4 (P742A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2314461	NM_206937.2(LIG4):c.2336del (p.Phe778_Ser779insTer)	LIG4	Deletion (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2613993	NM_206937.2(LIG4):c.2288A>C (p.Asp763Ala)	LIG4 (D775A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1003823	NM_206937.2(LIG4):c.2273A>G (p.Tyr758Cys)	LIG4 (Y691C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 807041	NM_206937.2(LIG4):c.2267G>A (p.Arg756His)	LIG4 (R689H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533823	NM_206937.2(LIG4):c.2245T>C (p.Ser749Pro)	LIG4 (S749P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 934931	NM_206937.2(LIG4):c.2234A>G (p.His745Arg)	LIG4 (H757R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 310979	NM_206937.2(LIG4):c.2222G>A (p.Arg741His)	LIG4 (R741H +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +3 more	GConflicting classifications of pathogenicity
Select item 3118723	NM_206937.2(LIG4):c.2212T>G (p.Trp738Gly)	LIG4 (W750G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290656	NM_206937.2(LIG4):c.2174G>C (p.Trp725Ser)	LIG4 (W725S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2111244	NM_206937.2(LIG4):c.2143T>A (p.Ser715Thr)	LIG4 (S648T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3290657	NM_206937.2(LIG4):c.2142G>T (p.Leu714Phe)	LIG4 (L647F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211374	NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg)	LIG4 (S672R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +3 more	GUncertain significance
Select item 1426152	NM_206937.2(LIG4):c.1913T>C (p.Ile638Thr)	LIG4 (I638T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 418659	NM_206937.2(LIG4):c.1904del (p.Lys635fs)	LIG4 (K568fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 845322	NM_206937.2(LIG4):c.1883G>A (p.Arg628Gln)	LIG4 (R640Q +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 941446	NM_206937.2(LIG4):c.1847A>G (p.Tyr616Cys)	LIG4 (Y628C +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 848150	NM_206937.2(LIG4):c.1807A>T (p.Arg603Trp)	LIG4 (R536W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1492141	NM_206937.2(LIG4):c.1759G>A (p.Asp587Asn)	LIG4 (D587N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613750	NM_206937.2(LIG4):c.1729C>T (p.Arg577Cys)	LIG4 (R589C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300908	NM_206937.2(LIG4):c.1703A>C (p.Asp568Ala)	LIG4 (D501A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304598	NM_206937.2(LIG4):c.1646T>C (p.Ile549Thr)	LIG4 (I549T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1407194	NM_206937.2(LIG4):c.1538A>G (p.Lys513Arg)	LIG4 (K446R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 1929041	NM_206937.2(LIG4):c.1300C>T (p.Pro434Ser)	LIG4 (P446S +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 3118722	NM_206937.2(LIG4):c.1247A>T (p.Asp416Val)	LIG4 (D416V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 648059	NM_206937.2(LIG4):c.1193G>A (p.Gly398Asp)	LIG4 (G398D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1058410	NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn)	LIG4 (S323N +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GConflicting classifications of pathogenicity
Select item 985775	NM_206937.2(LIG4):c.971A>G (p.Gln324Arg)	LIG4 (Q257R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 429520	NM_206937.2(LIG4):c.907G>C (p.Gly303Arg)	LIG4 (G303R +2 more)	Single nucleotide variant (missense variant)	prenatal LIG4 syndrome with aqueductal stenosis +2 more	GLikely pathogenic
Select item 985774	NM_206937.2(LIG4):c.797A>C (p.Gln266Pro)	LIG4 (Q199P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377838	NM_206937.2(LIG4):c.743C>T (p.Pro248Leu)	LIG4 (P248L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2330692	NM_206937.2(LIG4):c.631G>C (p.Ala211Pro)	LIG4 (A211P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521262	NM_206937.2(LIG4):c.613del (p.Ser205fs)	LIG4 (S205fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1041614	NM_206937.2(LIG4):c.592G>A (p.Val198Ile)	LIG4 (V131I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613042	NM_206937.2(LIG4):c.581T>C (p.Leu194Ser)	LIG4 (L194S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 310990	NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)	LIG4 (R188Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2218706	NM_206937.2(LIG4):c.362A>G (p.Asp121Gly)	LIG4 (D54G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414277	NM_206937.2(LIG4):c.191T>C (p.Phe64Ser)	LIG4 (F64S +1 more)	Single nucleotide variant (missense variant +1 more)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 2225265	NM_206937.2(LIG4):c.161A>G (p.His54Arg)	LIG4 (H54R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1523456	NM_206937.2(LIG4):c.117C>A (p.Phe39Leu)	LIG4 (F51L +1 more)	Single nucleotide variant (missense variant +1 more)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 3290661	NM_206937.2(LIG4):c.59G>T (p.Cys20Phe)	LIG4 (C20F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 310995	NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)	LIG4 (Q5K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 51