"Revvity Omics, Revvity"[submitter] AND "BCHE"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555346	NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)	BCHE (Y528*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GConflicting classifications of pathogenicity
Select item 1324370	NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter)	BCHE (R452*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GPathogenic
Select item 1323972	NM_000055.4(BCHE):c.1158del (p.Pro387fs)	BCHE (P387fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 1324374	NM_000055.4(BCHE):c.1129G>T (p.Glu377Ter)	BCHE (E377*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GPathogenic
Select item 371431	NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter)	BCHE (Q339*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 13228	NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)	BCHE (L335P)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GPathogenic/Likely pathogenic
Select item 2437005	NM_000055.4(BCHE):c.932_935dup (p.Pro313fs)	BCHE (P313fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 1323974	NM_000055.4(BCHE):c.824_827dup (p.Lys276delinsAsnTer)	BCHE	Duplication (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370364	NM_000055.4(BCHE):c.793del (p.Tyr265fs)	BCHE (Y265fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 2437111	NM_000055.4(BCHE):c.522_537del (p.Asn173_Tyr174insTer)	BCHE	Deletion (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 13216	NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs)	BCHE (F146fs)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 344097	NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)	BCHE (G143D)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GPathogenic/Likely pathogenic
Select item 13215	NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	BCHE (D98G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 594478	NM_000055.4(BCHE):c.100del (p.Ile34fs)	BCHE (I34fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GPathogenic/Likely pathogenic