"Revvity Omics, Revvity"[submitter] AND "LOC126806063"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1930983	NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)	LOC126806063, LYST (Y3349C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1475634	NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)	LOC126806063, LYST (N3325S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 806383	NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp)	LOC126806063, LYST (R3320W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433570	NM_000081.4(LYST):c.9944G>A (p.Arg3315His)	LOC126806063, LYST (R3315H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433573	NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)	LOC126806063, LYST (V3314fs)	Insertion (frameshift variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433563	NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)	LOC126806063, LYST (G3313D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance

ClinVar