CN220053[trait identifier] AND "TilsonLab, Columbia University"[submit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155897	NM_001854.4(COL11A1):c.781-70T>G	COL11A1	Single nucleotide variant (intron variant)	sporadic abdominal aortic aneurysm	GPathogenic
Select item 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +5 more	GBenign
Select item 156439	NM_000146.4(FTL):c.169G>A (p.Glu57Lys)	FTL (E57K)	Single nucleotide variant (missense variant)	Neuroferritinopathy +3 more	GConflicting classifications of pathogenicity

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ClinVar