"Ambry Genetics"[submitter] AND "LOC126807519"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2255531	NM_000358.3(TGFBI):c.1199T>A (p.Leu400His)	LOC126807519, TGFBI (L400H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325709	NM_000358.3(TGFBI):c.1221T>G (p.Ser407Arg)	LOC126807519, TGFBI (S407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance