SYNM[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 249

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155317	GRCh38/hg38 15q26.3(chr15:98068625-99258729)x3	IGF1R, IRAIN +48 more	Copy number gain	See cases	GUncertain significance
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 149267	GRCh38/hg38 15q26.3(chr15:98873545-99363146)x3	IGF1R, LOC126862245 +24 more	Copy number gain	See cases	GUncertain significance
Select item 153592	GRCh38/hg38 15q26.3(chr15:98892707-99182753)x1	IGF1R, LOC126862245 +18 more	Copy number loss	See cases	GPathogenic
Select item 146842	GRCh38/hg38 15q26.3(chr15:98900305-99156016)x1	IGF1R, LOC130058004 +17 more	Copy number loss	See cases	GUncertain significance
Select item 58223	GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1	IGF1R, LOC130058004 +17 more	Copy number loss	See cases	GUncertain significance
Select item 149682	GRCh38/hg38 15q26.3(chr15:98976591-99598500)x3	LINC02244, LOC105371017 +35 more	Copy number gain	See cases	GUncertain significance
Select item 147414	GRCh38/hg38 15q26.3(chr15:98976591-99456909)x4	LINC02244, LOC105371017 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148287	GRCh38/hg38 15q26.3(chr15:99057691-99598500)x3	LINC02244, LOC105371017 +30 more	Copy number gain	See cases	GLikely benign
Select item 150540	GRCh38/hg38 15q26.3(chr15:99074961-99338359)x3	LOC126862246, LOC129390743 +11 more	Copy number gain	See cases	GLikely benign
Select item 3323969	NM_145728.3(SYNM):c.25G>A (p.Gly9Ser)	LOC130058014, SYNM +1 more (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172839	NM_145728.3(SYNM):c.42G>C (p.Glu14Asp)	LOC130058014, SYNM +1 more (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054523	NM_145728.3(SYNM):c.51G>A (p.Glu17=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3052259	NM_145728.3(SYNM):c.111A>C (p.Leu37=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3052041	NM_145728.3(SYNM):c.117G>A (p.Leu39=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3172833	NM_145728.3(SYNM):c.133G>T (p.Gly45Cys)	LOC130058014, SYNM +1 more (G45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289607	NM_145728.3(SYNM):c.136C>T (p.Arg46Trp)	LOC130058014, SYNM +1 more (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032617	NM_145728.3(SYNM):c.153C>G (p.Gly51=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 2456095	NM_145728.3(SYNM):c.166G>C (p.Gly56Arg)	LOC130058014, SYNM +1 more (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053288	NM_145728.3(SYNM):c.217G>C (p.Glu73Gln)	LOC130058014, SYNM +1 more (E73Q)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 2383498	NM_145728.3(SYNM):c.248G>A (p.Gly83Asp)	LOC130058014, SYNM +1 more (G83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054562	NM_145728.3(SYNM):c.258C>T (p.Asp86=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3323962	NM_145728.3(SYNM):c.269G>A (p.Arg90His)	LOC130058014, SYNM +1 more (R90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352402	NM_145728.3(SYNM):c.280G>A (p.Glu94Lys)	LOC130058014, SYNM +1 more (E94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395812	NM_145728.3(SYNM):c.282G>C (p.Glu94Asp)	LOC130058014, SYNM +1 more (E94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212783	NM_145728.3(SYNM):c.328G>A (p.Asp110Asn)	LOC130058014, SYNM +1 more (D110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053350	NM_145728.3(SYNM):c.330C>T (p.Asp110=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 2380316	NM_145728.3(SYNM):c.344C>T (p.Ala115Val)	LOC130058014, SYNM +1 more (A115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392538	NM_145728.3(SYNM):c.350A>T (p.Gln117Leu)	LOC130058014, SYNM +1 more (Q117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392539	NM_145728.3(SYNM):c.351G>C (p.Gln117His)	LOC130058014, SYNM +1 more (Q117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344760	NM_145728.3(SYNM):c.362A>C (p.Gln121Pro)	LOC130058014, SYNM +1 more (Q121P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392540	NM_145728.3(SYNM):c.373G>C (p.Gly125Arg)	LOC130058014, SYNM +1 more (G125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034822	NM_145728.3(SYNM):c.408G>A (p.Arg136=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 2251221	NM_145728.3(SYNM):c.434A>C (p.Asp145Ala)	LOC130058014, SYNM +1 more (D145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172840	NM_145728.3(SYNM):c.437C>A (p.Ala146Glu)	LOC130058014, SYNM +1 more (A146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229692	NM_145728.3(SYNM):c.443A>C (p.His148Pro)	LOC130058014, SYNM +1 more (H148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263345	NM_145728.3(SYNM):c.452A>C (p.Asp151Ala)	LOC130058014, SYNM +1 more (D151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556705	NM_145728.3(SYNM):c.453C>G (p.Asp151Glu)	LOC130058014, SYNM +1 more (D151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035829	NM_145728.3(SYNM):c.457A>C (p.Arg153=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3172841	NM_145728.3(SYNM):c.466C>T (p.Arg156Cys)	LOC130058014, SYNM +1 more (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932418	NM_145728.3(SYNM):c.483C>T (p.Ser161=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222628	NM_145728.3(SYNM):c.484C>G (p.Leu162Val)	LOC130058014, SYNM +1 more (L162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319992	NM_145728.3(SYNM):c.493C>T (p.His165Tyr)	LOC130058014, SYNM +1 more (H165Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041138	NM_145728.3(SYNM):c.499C>T (p.Arg167Cys)	LOC130058014, SYNM +1 more (R167C)	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3031683	NM_145728.3(SYNM):c.519C>T (p.Pro173=)	LOC130058014, SYNM +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GLikely benign
Select item 2549287	NM_145728.3(SYNM):c.526C>G (p.Pro176Ala)	LOC130058014, SYNM +1 more (P176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716222	NM_145728.3(SYNM):c.538C>T (p.Leu180=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323965	NM_145728.3(SYNM):c.560A>G (p.Tyr187Cys)	SYNM, SYNM-AS1 (Y187C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3040887	NM_145728.3(SYNM):c.571G>C (p.Val191Leu)	SYNM, SYNM-AS1 (V191L)	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3036567	NM_145728.3(SYNM):c.576C>T (p.Ala192=)	SYNM, SYNM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GBenign
Select item 3172843	NM_145728.3(SYNM):c.587G>C (p.Arg196Pro)	SYNM, SYNM-AS1 (R196P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2473396	NM_145728.3(SYNM):c.587G>A (p.Arg196Gln)	SYNM, SYNM-AS1 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261328	NM_145728.3(SYNM):c.587G>T (p.Arg196Leu)	SYNM, SYNM-AS1 (R196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722467	NM_145728.3(SYNM):c.598C>T (p.Gln200Ter)	SYNM, SYNM-AS1 (Q200*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 711160	NM_145728.3(SYNM):c.609G>C (p.Glu203Asp)	SYNM, SYNM-AS1 (E203D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595608	NM_145728.3(SYNM):c.622G>A (p.Glu208Lys)	SYNM, SYNM-AS1 (E208K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323963	NM_145728.3(SYNM):c.650A>C (p.Gln217Pro)	SYNM, SYNM-AS1 (Q217P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323970	NM_145728.3(SYNM):c.674A>C (p.Glu225Ala)	SYNM, SYNM-AS1 (E225A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349717	NM_145728.3(SYNM):c.679A>G (p.Thr227Ala)	SYNM (T227A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3048253	NM_145728.3(SYNM):c.695A>T (p.Gln232Leu)	SYNM (Q232L)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3052149	NM_145728.3(SYNM):c.699G>A (p.Glu233=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 403504	NM_145728.3(SYNM):c.703dup (p.Glu235fs)	SYNM (E235fs)	Duplication (frameshift variant)	SYNM-related disorder +1 more	GBenign
Select item 3323971	NM_145728.3(SYNM):c.713G>A (p.Arg238Gln)	SYNM (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645739	NM_145728.3(SYNM):c.797C>T (p.Ala266Val)	SYNM (A266V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3053948	NM_145728.3(SYNM):c.801G>A (p.Glu267=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 721866	NM_145728.3(SYNM):c.810+3C>T	SYNM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2407604	NM_145728.3(SYNM):c.905C>T (p.Thr302Ile)	SYNM (T302I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3238995	NM_145728.3(SYNM):c.906C>T (p.Thr302=)	SYNM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058385	NM_145728.3(SYNM):c.1034C>T (p.Thr345Ile)	SYNM (T345I)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3032283	NM_145728.3(SYNM):c.1052G>A (p.Arg351Lys)	SYNM (R351K)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3035154	NM_145728.3(SYNM):c.1062A>T (p.Glu354Asp)	SYNM (E354D)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 2302183	NM_145728.3(SYNM):c.1084A>G (p.Lys362Glu)	SYNM (K362E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227238	NM_145728.3(SYNM):c.1185A>T (p.Arg395Ser)	SYNM (R395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025834	NM_145728.3(SYNM):c.1385G>A (p.Gly462Asp)	SYNM (G462D)	Single nucleotide variant (missense variant)	not provided	GLikely benign

<< First< Prev

Page of 3