BCHE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 902450	NM_000055.4(BCHE):c.*467C>G	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344078	NM_000055.4(BCHE):c.*400T>C	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 902451	NM_000055.4(BCHE):c.*349G>A	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GLikely benign
Select item 902452	NM_000055.4(BCHE):c.*316T>A	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344079	NM_000055.4(BCHE):c.*293dup	BCHE	Duplication (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GBenign
Select item 344080	NM_000055.4(BCHE):c.*285T>C	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 903311	NM_000055.4(BCHE):c.*281A>C	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344081	NM_000055.4(BCHE):c.*237A>G	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344082	NM_000055.4(BCHE):c.*189G>A	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GBenign
Select item 344083	NM_000055.4(BCHE):c.*180G>A	BCHE	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of butyrylcholinesterase	GLikely benign
Select item 344084	NM_000055.4(BCHE):c.*174C>T	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344085	NM_000055.4(BCHE):c.*139T>A	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 344086	NM_000055.4(BCHE):c.*52A>G	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 899826	NM_000055.4(BCHE):c.*39G>T	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 899827	NM_000055.4(BCHE):c.*13C>T	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1878252	NM_000055.4(BCHE):c.1802del (p.Gly601fs)	BCHE (G601fs)	Deletion (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 899828	NM_000055.4(BCHE):c.1802G>T (p.Gly601Val)	BCHE (G601V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 2654264	NM_000055.4(BCHE):c.1800G>C (p.Val600=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571193	NM_000055.4(BCHE):c.1794T>C (p.Ser598=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2273945	NM_000055.4(BCHE):c.1781G>T (p.Ser594Ile)	BCHE (S594I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260620	NM_000055.4(BCHE):c.1777A>G (p.Thr593Ala)	BCHE (T593A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 344087	NM_000055.4(BCHE):c.1770C>T (p.Asn590=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344088	NM_000055.4(BCHE):c.1736A>G (p.Asn579Ser)	BCHE (N579S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2541468	NM_000055.4(BCHE):c.1700C>T (p.Ala567Val)	BCHE (A567V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 13220	NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)	BCHE (A567T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 376785	NM_000055.4(BCHE):c.1685-8T>G	BCHE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 899829	NM_000055.4(BCHE):c.1685-14T>C	BCHE	Single nucleotide variant (intron variant)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 785071	NM_000055.4(BCHE):c.1684+3G>A	BCHE	Single nucleotide variant (intron variant)	not provided	GBenign
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 900995	NM_000055.4(BCHE):c.1667A>T (p.Lys556Ile)	BCHE (K556I)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 3133361	NM_000055.4(BCHE):c.1643G>T (p.Arg548Leu)	BCHE (R548L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2547829	NM_000055.4(BCHE):c.1631C>T (p.Ala544Val)	BCHE (A544V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608322	NM_000055.4(BCHE):c.1630G>C (p.Ala544Pro)	BCHE (A544P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 900996	NM_000055.4(BCHE):c.1613T>C (p.Ile538Thr)	BCHE (I538T)	Single nucleotide variant (missense 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 13221	NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)	BCHE (E525V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555652	NM_000055.4(BCHE):c.1556C>T (p.Pro519Leu)	BCHE (P519L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1343601	NM_000055.4(BCHE):c.1544G>C (p.Ser515Thr)	BCHE (S515T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 900997	NM_000055.4(BCHE):c.1540A>T (p.Asn514Tyr)	BCHE (N514Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 3133360	NM_000055.4(BCHE):c.1532C>G (p.Thr511Ser)	BCHE (T511S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 344089	NM_000055.4(BCHE):c.1518-6A>G	BCHE	Single nucleotide variant (intron variant)	Deficiency of butyrylcholinesterase +1 more	GConflicting classifications of pathogenicity
Select item 3336140	NM_000055.4(BCHE):c.1517+6T>C	BCHE	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 900998	NM_000055.4(BCHE):c.1513T>C (p.Tyr505His)	BCHE (Y505H)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
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 2604305	NM_000055.4(BCHE):c.1486G>A (p.Val496Met)	BCHE (V496M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 632412	NM_000055.4(BCHE):c.1462G>A (p.Glu488Lys)	BCHE (E488K)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 344090	NM_000055.4(BCHE):c.1438A>G (p.Arg480Gly)	BCHE (R480G)	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 1324370	NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter)	BCHE (R452*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GPathogenic
Select item 374940	NM_000055.4(BCHE):c.1330G>A (p.Ala444Thr)	BCHE (A444T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 344091	NM_000055.4(BCHE):c.1327A>C (p.Asn443His)	BCHE (N443H)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GConflicting classifications of pathogenicity
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 2407567	NM_000055.4(BCHE):c.1256A>T (p.Asp419Val)	BCHE (D419V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 13219	NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)	BCHE (G418V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GConflicting classifications of pathogenicity
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 632413	NM_000055.4(BCHE):c.1217dup (p.Asp406fs)	BCHE (D406fs)	Duplication (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
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 344092	NM_000055.4(BCHE):c.1178G>T (p.Gly393Val)	BCHE (G393V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
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 2501206	NM_000055.4(BCHE):c.1171_1174dup (p.Phe392Ter)	BCHE (F392*)	Microsatellite (nonsense +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 3133359	NM_000055.4(BCHE):c.1174T>C (p.Phe392Leu)	BCHE (F392L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 900999	NM_000055.4(BCHE):c.1150A>G (p.Ile384Val)	BCHE (I384V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 3133358	NM_000055.4(BCHE):c.1148A>T (p.Lys383Ile)	BCHE (K383I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219748	NM_000055.4(BCHE):c.1142G>C (p.Gly381Ala)	BCHE (G381A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 344093	NM_000055.4(BCHE):c.1137G>A (p.Gln379=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyrylcholinesterase	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 901554	NM_000055.4(BCHE):c.1122T>C (p.Thr374=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 2545443	NM_000055.4(BCHE):c.1107C>A (p.Asn369Lys)	BCHE (N369K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620630	NM_000055.4(BCHE):c.1095C>G (p.Phe365Leu)	BCHE (F365L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133356	NM_000055.4(BCHE):c.1087C>A (p.Pro363Thr)	BCHE (P363T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 344094	NM_000055.4(BCHE):c.1077C>T (p.Val359=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
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

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