Related gene-specific medical variations for Gene (Select 590) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2437005	NM_000055.4(BCHE):c.932_935dup (p.Pro313fs)	BCHE (P313fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 1525976	NM_000055.4(BCHE):c.1685-14T>A	BCHE	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1341228	GRCh37/hg19 3q26.1(chr3:165468781-165545042)x1	BCHE	Copy number loss	not provided	GUncertain significance
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 1323974	NM_000055.4(BCHE):c.824_827dup (p.Lys276delinsAsnTer)	BCHE	Duplication (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 903492	NM_000055.4(BCHE):c.-32G>A	BCHE, LOC121048721	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 809563	NM_000055.4(BCHE):c.352G>T (p.Glu118Ter)	BCHE (E118*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 685099	GRCh37/hg19 3q26.1(chr3:165518858-165880413)x3	BCHE	Copy number gain	not provided	GUncertain significance
Select item 562837	GRCh37/hg19 3q26.1(chr3:165369121-166538495)x1	BCHE	Copy number loss	not provided	GUncertain significance
Select item 394463	GRCh37/hg19 3q26.1(chr3:165491171-165547461)x1	BCHE	Copy number loss	See cases	GLikely benign
Select item 376785	NM_000055.4(BCHE):c.1685-8T>G	BCHE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 13229	BCHE*FS126	BCHE	Deletion	Postanesthetic apnea	GPathogenic
Select item 13225	NM_000055.4:c.1160_1161ins[N[342];1146_1160]	BCHE	Duplication	Deficiency of butyrylcholinesterase	GPathogenic
Select item 13224	BCHE Johannesburg	BCHE	Variation	BCHE Johannesburg	GPathogenic
Select item 13223	BCHE Cynthiana	BCHE	Variation	BCHE Cynthiana	GPathogenic
Select item 13222	BCHE Newfoundland	BCHE	Variation	BCHE Newfoundland	GPathogenic