"Ambry Genetics"[submitter] AND "LOC126806063"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2146173	NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)	LOC126806063, LYST (I3354fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2331921	NM_000081.4(LYST):c.9988G>A (p.Ala3330Thr)	LOC126806063, LYST (A3330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance