"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LIG4"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310975	NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	LIG4 (A842D +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1047035	NM_206937.2(LIG4):c.2467T>C (p.Tyr823His)	LIG4 (Y756H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683238	NM_206937.2(LIG4):c.1989G>C (p.Glu663Asp)	LIG4 (E596D +2 more)	Single nucleotide variant (missense variant)	not provided	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 954120	NM_206937.2(LIG4):c.1730G>A (p.Arg577His)	LIG4 (R577H +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 581350	NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn)	LIG4 (S536N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1375422	NM_206937.2(LIG4):c.1437G>T (p.Met479Ile)	LIG4 (M491I +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 950260	NM_206937.2(LIG4):c.1288A>T (p.Met430Leu)	LIG4 (M430L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 966037	NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)	LIG4 (N345K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 959275	NM_206937.2(LIG4):c.989G>T (p.Gly330Val)	LIG4 (G263V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 2683239	NM_206937.2(LIG4):c.262A>G (p.Met88Val)	LIG4 (M100V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance