C1851945[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	TOR1A-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 5182	NM_000113.3(TOR1A):c.646G>C (p.Asp216His)	TOR1A (D216H)	Single nucleotide variant (missense variant)	Dystonic disorder +4 more	GBenign
Select item 268214	NM_000113.3(TOR1A):c.385G>A (p.Val129Ile)	TOR1A (V129I)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +1 more	GUncertain significance

Format

Sort by

Choose Destination

ClinVar