BMS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 146794	GRCh38/hg38 10q11.21(chr10:42334773-42860962)x1	BMS1, LINC00839 +13 more	Copy number loss	See cases	GUncertain significance
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	A1CF, AGAP10 +309 more	Copy number gain	See cases	GPathogenic
Select item 148036	GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3	BMS1, CSGALNACT2 +41 more	Copy number gain	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 2229764	NM_014753.4(BMS1):c.60G>T (p.Lys20Asn)	BMS1 (K20N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725772	NM_014753.4(BMS1):c.63A>G (p.Lys21=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713462	NM_014753.4(BMS1):c.112C>T (p.Arg38Trp)	BMS1 (R38W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743256	NM_014753.4(BMS1):c.114G>A (p.Arg38=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732172	NM_014753.4(BMS1):c.144G>A (p.Gln48=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208230	NM_014753.4(BMS1):c.154C>T (p.Arg52Trp)	BMS1 (R52W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398788	NM_014753.4(BMS1):c.199A>G (p.Lys67Glu)	BMS1 (K67E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332523	NM_014753.4(BMS1):c.251T>C (p.Val84Ala)	BMS1 (V84A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 794146	NM_014753.4(BMS1):c.260T>C (p.Val87Ala)	BMS1 (V87A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 730005	NM_014753.4(BMS1):c.316T>C (p.Phe106Leu)	BMS1 (F106L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2463185	NM_014753.4(BMS1):c.323G>A (p.Arg108Gln)	BMS1 (R108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381672	NM_014753.4(BMS1):c.376C>T (p.Arg126Cys)	BMS1 (R126C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316183	NM_014753.4(BMS1):c.377G>A (p.Arg126His)	BMS1 (R126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522614	NM_014753.4(BMS1):c.516A>C (p.Gln172His)	BMS1 (Q172H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291934	NM_014753.4(BMS1):c.559G>A (p.Asp187Asn)	BMS1 (D187N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206177	NM_014753.4(BMS1):c.631T>C (p.Tyr211His)	BMS1 (Y211H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737027	NM_014753.4(BMS1):c.636+10G>T	BMS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734056	NM_014753.4(BMS1):c.641C>T (p.Ala214Val)	BMS1 (A214V)	Single nucleotide variant (missense variant)	BMS1-related condition +1 more	GBenign/Likely benign
Select item 782289	NM_014753.4(BMS1):c.710G>A (p.Arg237His)	BMS1 (R237H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043996	NM_014753.4(BMS1):c.737C>T (p.Pro246Leu)	BMS1 (P246L)	Single nucleotide variant (missense variant)	BMS1-related condition	GLikely benign
Select item 3025232	NM_014753.4(BMS1):c.771G>T (p.Leu257=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043978	NM_014753.4(BMS1):c.779+7T>A	BMS1	Single nucleotide variant (intron variant)	BMS1-related condition	GLikely benign
Select item 3044611	NM_014753.4(BMS1):c.779+8A>G	BMS1	Single nucleotide variant (intron variant)	BMS1-related condition	GLikely benign
Select item 800020	NM_014753.4(BMS1):c.779+9T>C	BMS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2393347	NM_014753.4(BMS1):c.812G>A (p.Arg271Gln)	BMS1 (R271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265051	NM_014753.4(BMS1):c.826T>C (p.Cys276Arg)	BMS1 (C276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783032	NM_014753.4(BMS1):c.848A>G (p.Tyr283Cys)	BMS1 (Y283C)	Single nucleotide variant (missense variant)	BMS1-related condition +1 more	GLikely benign
Select item 3025776	NM_014753.4(BMS1):c.867A>G (p.Ala289=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition +1 more	GLikely benign
Select item 759160	NM_014753.4(BMS1):c.902-4C>T	BMS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2272611	NM_014753.4(BMS1):c.926A>G (p.Asp309Gly)	BMS1 (D309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270751	NM_014753.4(BMS1):c.941C>A (p.Pro314Gln)	BMS1 (P314Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288902	NM_014753.4(BMS1):c.1006T>A (p.Tyr336Asn)	BMS1 (Y336N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755650	NM_014753.4(BMS1):c.1011G>A (p.Ala337=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481933	NM_014753.4(BMS1):c.1030G>C (p.Gly344Arg)	BMS1 (G344R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286915	NM_014753.4(BMS1):c.1046A>C (p.Lys349Thr)	BMS1 (K349T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753924	NM_014753.4(BMS1):c.1080C>T (p.His360=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215195	NM_014753.4(BMS1):c.1081G>A (p.Val361Ile)	BMS1 (V361I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325955	NM_014753.4(BMS1):c.1084T>C (p.Phe362Leu)	BMS1 (F362L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599579	NM_014753.4(BMS1):c.1124G>A (p.Ser375Asn)	BMS1 (S375N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378198	NM_014753.4(BMS1):c.1129A>C (p.Ile377Leu)	BMS1 (I377L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555230	NM_014753.4(BMS1):c.1144A>T (p.Thr382Ser)	BMS1 (T382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604711	NM_014753.4(BMS1):c.1172G>A (p.Arg391Gln)	BMS1 (R391Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248438	NM_014753.4(BMS1):c.1178C>T (p.Thr393Met)	BMS1 (T393M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060154	NM_014753.4(BMS1):c.1197G>A (p.Lys399=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition	GBenign
Select item 3037541	NM_014753.4(BMS1):c.1255C>G (p.Gln419Glu)	BMS1 (Q419E)	Single nucleotide variant (missense variant)	BMS1-related condition	GBenign
Select item 2467703	NM_014753.4(BMS1):c.1270A>G (p.Thr424Ala)	BMS1 (T424A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725680	NM_014753.4(BMS1):c.1320A>G (p.Gly440=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220174	NM_014753.4(BMS1):c.1363G>A (p.Gly455Arg)	BMS1 (G455R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3025806	NM_014753.4(BMS1):c.1374C>T (p.Asn458=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285810	NM_014753.4(BMS1):c.1388A>G (p.Glu463Gly)	BMS1 (E463G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401906	NM_014753.4(BMS1):c.1402G>A (p.Glu468Lys)	BMS1 (E468K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723393	NM_014753.4(BMS1):c.1500A>G (p.Ala500=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition +1 more	GBenign
Select item 3048898	NM_014753.4(BMS1):c.1515C>T (p.Asp505=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition	GLikely benign
Select item 746388	NM_014753.4(BMS1):c.1554G>A (p.Ala518=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751024	NM_014753.4(BMS1):c.1605G>A (p.Lys535=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244193	NM_014753.4(BMS1):c.1624G>A (p.Ala542Thr)	BMS1 (A542T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036677	NM_014753.4(BMS1):c.1645G>A (p.Ala549Thr)	BMS1 (A549T)	Single nucleotide variant (missense variant)	BMS1-related condition	GBenign
Select item 782864	NM_014753.4(BMS1):c.1654T>C (p.Ser552Pro)	BMS1 (S552P)	Single nucleotide variant (missense variant)	BMS1-related condition +1 more	GBenign
Select item 726701	NM_014753.4(BMS1):c.1674T>C (p.Ser558=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728758	NM_014753.4(BMS1):c.1679G>A (p.Arg560His)	BMS1 (R560H)	Single nucleotide variant (missense variant)	BMS1-related condition +1 more	GBenign
Select item 3042032	NM_014753.4(BMS1):c.1749A>G (p.Thr583=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition	GBenign
Select item 748492	NM_014753.4(BMS1):c.1749A>T (p.Thr583=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779112	NM_014753.4(BMS1):c.1759G>C (p.Val587Leu)	BMS1 (V587L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213977	NM_014753.4(BMS1):c.1815A>T (p.Glu605Asp)	BMS1 (E605D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298751	NM_014753.4(BMS1):c.1850T>C (p.Leu617Pro)	BMS1 (L617P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726264	NM_014753.4(BMS1):c.1855A>G (p.Lys619Glu)	BMS1 (K619E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2362621	NM_014753.4(BMS1):c.1876G>A (p.Gly626Ser)	BMS1 (G626S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316065	NM_014753.4(BMS1):c.1886T>C (p.Leu629Pro)	BMS1 (L629P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602299	NM_014753.4(BMS1):c.1892C>T (p.Pro631Leu)	BMS1 (P631L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737444	NM_014753.4(BMS1):c.1983G>A (p.Thr661=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603401	NM_014753.4(BMS1):c.2050C>G (p.Gln684Glu)	BMS1 (Q684E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252237	NM_014753.4(BMS1):c.2051A>G (p.Gln684Arg)	BMS1 (Q684R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1275745	NM_014753.4(BMS1):c.2225C>T (p.Pro742Leu)	BMS1 (P742L)	Single nucleotide variant (missense variant)	Aplasia cutis congenita	GUncertain significance
Select item 2325509	NM_014753.4(BMS1):c.2279C>T (p.Thr760Ile)	BMS1 (T760I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301228	NM_014753.4(BMS1):c.2282G>A (p.Gly761Glu)	BMS1 (G761E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781788	NM_014753.4(BMS1):c.2302G>A (p.Asp768Asn)	BMS1 (D768N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3038412	NM_014753.4(BMS1):c.2341G>T (p.Gly781Cys)	BMS1 (G781C)	Single nucleotide variant (missense variant)	BMS1-related condition	GLikely benign
Select item 730705	NM_014753.4(BMS1):c.2396A>G (p.Asn799Ser)	BMS1 (N799S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2346133	NM_014753.4(BMS1):c.2588G>A (p.Arg863His)	BMS1 (R863H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771884	NM_014753.4(BMS1):c.2589C>T (p.Arg863=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3055798	NM_014753.4(BMS1):c.2590G>A (p.Ala864Thr)	BMS1 (A864T)	Single nucleotide variant (missense variant)	BMS1-related condition	GBenign
Select item 2492993	NM_014753.4(BMS1):c.2611G>A (p.Asp871Asn)	BMS1 (D871N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478629	NM_014753.4(BMS1):c.2702T>C (p.Phe901Ser)	BMS1 (F901S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477665	NM_014753.4(BMS1):c.2714A>T (p.Tyr905Phe)	BMS1 (Y905F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155924	NM_014753.4(BMS1):c.2789G>A (p.Arg930His)	BMS1 (R930H)	Single nucleotide variant (missense variant)	Aplasia cutis congenita	GPathogenic
Select item 734913	NM_014753.4(BMS1):c.2824A>G (p.Ile942Val)	BMS1 (I942V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769780	NM_014753.4(BMS1):c.2826C>T (p.Ile942=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2243984	NM_014753.4(BMS1):c.2923C>T (p.His975Tyr)	BMS1 (H975Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599721	NM_014753.4(BMS1):c.2935G>A (p.Gly979Arg)	BMS1 (G979R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053391	NM_014753.4(BMS1):c.2940A>T (p.Ala980=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition	GLikely benign
Select item 2614377	NM_014753.4(BMS1):c.2989C>A (p.Gln997Lys)	BMS1 (Q997K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741028	NM_014753.4(BMS1):c.3132+9A>G	BMS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3035886	NM_014753.4(BMS1):c.3141T>G (p.Phe1047Leu)	BMS1 (F1047L)	Single nucleotide variant (missense variant)	BMS1-related condition	GBenign
Select item 3052033	NM_014753.4(BMS1):c.3281-10C>T	BMS1	Single nucleotide variant (intron variant)	BMS1-related condition	GLikely benign

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