ClinVar for Gene (Select 590) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133365	NM_000055.4(BCHE):c.97A>G (p.Ile33Val)	BCHE (I33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3133364	NM_000055.4(BCHE):c.561T>A (p.Asn187Lys)	BCHE (N187K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133363	NM_000055.4(BCHE):c.343G>T (p.Asp115Tyr)	BCHE (D115Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133362	NM_000055.4(BCHE):c.274T>G (p.Ser92Ala)	BCHE (S92A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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 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 3063838	NM_000055.4(BCHE):c.119A>G (p.Lys40Arg)	BCHE (K40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050313	NM_000055.4(BCHE):c.503T>C (p.Ile168Thr)	BCHE (I168T)	Single nucleotide variant (missense variant +1 more)	BCHE-related disorder	GUncertain significance
Select item 3029270	NM_000055.4(BCHE):c.736A>C (p.Thr246Pro)	BCHE (T246P)	Single nucleotide variant (missense variant +1 more)	BCHE-related disorder	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	BCHE, GOLIM4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2682418	NM_000055.4(BCHE):c.777G>A (p.Trp259Ter)	BCHE (W259*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyrylcholinesterase	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
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 2635678	NM_000055.4(BCHE):c.327G>A (p.Met109Ile)	BCHE (M109I)	Single nucleotide variant (missense variant +1 more)	BCHE-related disorder	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 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 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 2603951	NM_000055.4(BCHE):c.25T>G (p.Cys9Gly)	BCHE (C9G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 2527985	NM_000055.4(BCHE):c.394C>G (p.Pro132Ala)	BCHE (P132A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520678	NM_000055.4(BCHE):c.401A>G (p.Asn134Ser)	BCHE (N134S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509128	NM_000055.4(BCHE):c.922G>T (p.Val308Phe)	BCHE (V308F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2484556	NM_000055.4(BCHE):c.71G>A (p.Gly24Glu)	BCHE (G24E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2404273	NM_000055.4(BCHE):c.640G>A (p.Gly214Ser)	BCHE (G214S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353804	NM_000055.4(BCHE):c.113A>G (p.Asn38Ser)	BCHE (N38S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328408	NM_000055.4(BCHE):c.259A>T (p.Thr87Ser)	BCHE (T87S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324871	NM_000055.4(BCHE):c.79C>T (p.His27Tyr)	BCHE (H27Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322082	NM_000055.4(BCHE):c.665T>C (p.Leu222Pro)	BCHE (L222P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277992	NM_000055.4(BCHE):c.58T>G (p.Cys20Gly)	BCHE (C20G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 1878252	NM_000055.4(BCHE):c.1802del (p.Gly601fs)	BCHE (G601fs)	Deletion (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1677196	NM_000055.4(BCHE):c.594T>G (p.Asp198Glu)	BCHE (D198E)	Single nucleotide variant (missense variant +1 more)	BCHE-related disorder +1 more	GLikely pathogenic
Select item 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
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 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 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 1324370	NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter)	BCHE (R452*)	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 1323972	NM_000055.4(BCHE):c.1158del (p.Pro387fs)	BCHE (P387fs)	Deletion (frameshift variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic
Select item 1301372	NM_000055.4(BCHE):c.676A>G (p.Ser226Gly)	BCHE (S226G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 903492	NM_000055.4(BCHE):c.-32G>A	BCHE, LOC121048721	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GBenign
Select item 903491	NM_000055.4(BCHE):c.314A>G (p.His105Arg)	BCHE (H105R)	Single nucleotide variant (missense 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 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 902451	NM_000055.4(BCHE):c.*349G>A	BCHE	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of butyrylcholinesterase	GLikely benign
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 901557	NM_000055.4(BCHE):c.435T>A (p.Gly145=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyrylcholinesterase +2 more	GConflicting classifications of pathogenicity
Select item 901556	NM_000055.4(BCHE):c.813G>A (p.Thr271=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
Select item 901555	NM_000055.4(BCHE):c.1027A>T (p.Thr343Ser)	BCHE (T343S)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GUncertain significance
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 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 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 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 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 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 899829	NM_000055.4(BCHE):c.1685-14T>C	BCHE	Single nucleotide variant (intron variant)	Deficiency of butyrylcholinesterase	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 899827	NM_000055.4(BCHE):c.*13C>T	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 809563	NM_000055.4(BCHE):c.352G>T (p.Glu118Ter)	BCHE (E118*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 785071	NM_000055.4(BCHE):c.1684+3G>A	BCHE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749631	NM_000055.4(BCHE):c.786A>G (p.Thr262=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738189	NM_000055.4(BCHE):c.67A>G (p.Ile23Val)	BCHE (I23V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 731432	NM_000055.4(BCHE):c.156G>A (p.Thr52=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729090	NM_000055.4(BCHE):c.16A>T (p.Thr6Ser)	BCHE (T6S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 725143	NM_000055.4(BCHE):c.535C>T (p.Leu179=)	BCHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 685099	GRCh37/hg19 3q26.1(chr3:165518858-165880413)x3	BCHE	Copy number gain	not provided	GUncertain significance
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 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 631914	NM_000055.4(BCHE):c.166T>A (p.Phe56Ile)	BCHE (F56I)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase +1 more	GConflicting classifications of pathogenicity
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
Select item 562837	GRCh37/hg19 3q26.1(chr3:165369121-166538495)x1	BCHE	Copy number loss	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 554455	NM_000055.4(BCHE):c.687del (p.Ala230fs)	BCHE (A230fs)	Deletion (frameshift variant +1 more)	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 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 552544	NM_000055.4(BCHE):c.382C>T (p.Pro128Ser)	BCHE (P128S)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyrylcholinesterase	GLikely pathogenic

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