C1283400[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551837	NM_000055.4(BCHE):c.1703_1720dup (p.Glu568_Ala573dup)	BCHE	Duplication (inframe_insertion +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 370447	NM_000055.4(BCHE):c.1685-2A>G	BCHE	Single nucleotide variant (splice acceptor variant)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370446	NM_000055.4(BCHE):c.1684+1G>T	BCHE	Single nucleotide variant (splice donor variant)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 552887	NM_000055.4(BCHE):c.1642C>T (p.Arg548Ter)	BCHE (R548*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 551540	NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)	BCHE (R543C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 552378	NM_000055.4(BCHE):c.1615dup (p.Met539fs)	BCHE (M539fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
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 371275	NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter)	BCHE (Q526*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370431	NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter)	BCHE (E510*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 371367	NM_000055.4(BCHE):c.1517+1G>T	BCHE	Single nucleotide variant (splice donor variant)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 550009	NM_000055.4(BCHE):c.1504T>C (p.Phe502Leu)	BCHE (F502L)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 555018	NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter)	BCHE (W499*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 550155	NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)	BCHE (R498W)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 550130	NM_000055.4(BCHE):c.1372dup (p.Trp458fs)	BCHE (W458fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 371014	NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter)	BCHE (C428*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 551580	NM_000055.4(BCHE):c.1259TTG[1] (p.Val421del)	BCHE (V421del)	Microsatellite (inframe_deletion +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 551265	NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)	BCHE (R414C)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GPathogenic/Likely pathogenic
Select item 371460	NM_000055.4(BCHE):c.1240del (p.Arg414fs)	BCHE (R414fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 551943	NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter)	BCHE (Q408*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 371372	NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter)	BCHE (E395*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 225301	NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)	BCHE (G393R)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GPathogenic
Select item 370388	NM_000055.4(BCHE):c.1073dup (p.Leu358fs)	BCHE (L358fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 13226	NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)	BCHE (L358I)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GPathogenic/Likely pathogenic
Select item 554916	NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp)	BCHE (A356D)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 551274	NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter)	BCHE (Q344*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370302	NM_000055.4(BCHE):c.1027dup (p.Thr343fs)	BCHE (T343fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GPathogenic/Likely pathogenic
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 370346	NM_000055.4(BCHE):c.895G>T (p.Glu299Ter)	BCHE (E299*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 225302	NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)	BCHE (K295R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 254777	NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)	BCHE (E283D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 371455	NM_000055.4(BCHE):c.757G>T (p.Gly253Ter)	BCHE (G253*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 554455	NM_000055.4(BCHE):c.687del (p.Ala230fs)	BCHE (A230fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370179	NM_000055.4(BCHE):c.666_667del (p.Phe223fs)	BCHE (F223fs)	Microsatellite (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 550242	NM_000055.4(BCHE):c.662del (p.Thr221fs)	BCHE (T221fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370854	NM_000055.4(BCHE):c.635C>T (p.Ala212Val)	BCHE (A212V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 371356	NM_000055.4(BCHE):c.619C>T (p.Gln207Ter)	BCHE (Q207*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 555805	NM_000055.4(BCHE):c.615G>A (p.Trp205Ter)	BCHE (W205*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 558107	NM_000055.4(BCHE):c.611del (p.Gln204fs)	BCHE (Q204fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 555689	NM_000055.4(BCHE):c.570T>C (p.Ala190=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 370518	NM_000055.4(BCHE):c.495_498del (p.Arg166fs)	BCHE (R166fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370709	NM_000055.4(BCHE):c.493del (p.Glu165fs)	BCHE (E165fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 554917	NM_000055.4(BCHE):c.459A>T (p.Leu153Phe)	BCHE (L153F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 371104	NM_000055.4(BCHE):c.439C>T (p.Gln147Ter)	BCHE (Q147*)	Single nucleotide variant (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 552544	NM_000055.4(BCHE):c.382C>T (p.Pro128Ser)	BCHE (P128S)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 554921	NM_000055.4(BCHE):c.307G>C (p.Gly103Arg)	BCHE (G103R)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 552857	NM_000055.4(BCHE):c.295C>T (p.Gln99Ter)	BCHE (Q99*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 370809	NM_000055.4(BCHE):c.206_207del (p.Leu69fs)	BCHE (L69fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 550396	NM_000055.4(BCHE):c.185C>T (p.Ala62Val)	BCHE (A62V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 555005	NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys)	BCHE (Y61C)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 550834	NM_000055.4(BCHE):c.155C>T (p.Thr52Met)	BCHE (T52M)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GUncertain significance
Select item 550337	NM_000055.4(BCHE):c.149del (p.Gly50fs)	BCHE (G50fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 371648	NM_000055.4(BCHE):c.110del (p.Lys37fs)	BCHE (K37fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 551225	NM_000055.4(BCHE):c.44G>A (p.Trp15Ter)	BCHE (W15*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic

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Items: 57