"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 533821	NM_206937.2(LIG4):c.1954G>A (p.Val652Ile)	LIG4 (V652I +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 7677	NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)	LIG4 (T9I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 7676	NM_206937.2(LIG4):c.8C>T (p.Ala3Val)	LIG4 (A3V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign

Format

Sort by

Choose Destination

ClinVar