"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 45

	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 2577091	NM_013975.4(LIG3):c.74G>A (p.Arg25Gln)	LIG3 (R25Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2504048	NM_013975.4(LIG3):c.123A>G (p.Thr41=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 782153	NM_013975.4(LIG3):c.670C>T (p.Arg224Trp)	LIG3 (R224W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 987864	NM_013975.4(LIG3):c.722C>T (p.Ser241Leu)	LIG3 (S241L)	Single nucleotide variant (missense variant)	not specified	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 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	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 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 929075	NM_013975.4(LIG3):c.1332G>A (p.Ser444=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 36472	NM_013975.4(LIG3):c.1440T>C (p.Pro480=)	LIG3	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	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 496413	NM_013975.4(LIG3):c.1690A>C (p.Ile564Leu)	LIG3 (I564L)	Single nucleotide variant (missense variant)	not provided	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 496414	NM_013975.4(LIG3):c.1835A>T (p.Glu612Val)	LIG3 (E612V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 933180	NM_013975.4(LIG3):c.1990-17_1990-14del	LIG3	Deletion (intron variant)	not specified	GBenign
Select item 2637535	NM_013975.4(LIG3):c.2133C>T (p.Phe711=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 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 specified	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 496417	NM_013975.4(LIG3):c.2472A>G (p.Gln824=)	LIG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1339688	NM_013975.4(LIG3):c.2796+20C>T	LIG3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 929072	NM_013975.4(LIG3):c.2825G>A (p.Arg942Gln)	LIG3 (R942Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2429241	NM_013975.4(LIG3):c.2860C>A (p.Arg954Ser)	LIG3 (R954S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581577	NM_013975.4(LIG3):c.2931C>T (p.His977=)	LIG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 496419	NM_013975.4(LIG3):c.2961G>A (p.Ala987=)	LIG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 496420	NM_013975.4(LIG3):c.3008G>A (p.Arg1003Gln)	LIG3 (R1003Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 496421	NM_013975.4(LIG3):c.3023C>T (p.Pro1008Leu)	LIG3 (P1008L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Items: 45