CN239380[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 465278	NM_206937.2(LIG4):c.*3del	LIG4	Deletion (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign/Likely benign
Select item 696647	NM_206937.2(LIG4):c.2655G>A (p.Lys885=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 310975	NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	LIG4 (A842D +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +5 more	GConflicting classifications of pathogenicity
Select item 7673	NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	LIG4 (R814* +2 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 533825	NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser)	LIG4 (A797S +2 more)	Single nucleotide variant (missense variant)	LIG4-related disorder +1 more	GLikely benign
Select item 2907200	NM_206937.2(LIG4):c.1992T>C (p.Phe664=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 418659	NM_206937.2(LIG4):c.1904del (p.Lys635fs)	LIG4 (K568fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency +3 more	GPathogenic
Select item 1384038	NM_206937.2(LIG4):c.1604C>T (p.Pro535Leu)	LIG4 (P468L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3055547	NM_206937.2(LIG4):c.1439_1440insA (p.Met480fs)	LIG4 (M413fs +2 more)	Insertion (frameshift variant)	LIG4-related disorder	GLikely pathogenic
Select item 373676	NM_206937.2(LIG4):c.898G>A (p.Asp300Asn)	LIG4 (D300N +2 more)	Single nucleotide variant (missense variant)	LIG4-related disorder +2 more	GUncertain significance
Select item 3031432	NM_206937.2(LIG4):c.687T>C (p.His229=)	LIG4	Single nucleotide variant (synonymous variant)	LIG4-related disorder	GLikely benign
Select item 211376	NM_206937.2(LIG4):c.686A>G (p.His229Arg)	LIG4 (H229R +2 more)	Single nucleotide variant (missense variant)	LIG4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2903478	NM_206937.2(LIG4):c.663G>A (p.Leu221=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 3061495	NM_206937.2(LIG4):c.627T>C (p.Asn209=)	LIG4	Single nucleotide variant (synonymous variant)	LIG4-related disorder	GLikely benign
Select item 2161906	NM_206937.2(LIG4):c.498A>G (p.Leu166=)	LIG4	Single nucleotide variant (synonymous variant)	LIG4-related disorder +1 more	GLikely benign
Select item 698745	NM_206937.2(LIG4):c.447C>T (p.Asn149=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 310994	NM_206937.2(LIG4):c.180C>T (p.Val60=)	LIG4	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +4 more	GBenign/Likely benign
Select item 3051145	NM_206937.2(LIG4):c.-37C>G	LIG4 (P27R)	Single nucleotide variant (5 prime UTR variant +2 more)	LIG4-related disorder	GLikely benign