"Ambry Genetics"[submitter] AND "SYNM"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 3323971	NM_145728.3(SYNM):c.713G>A (p.Arg238Gln)	SYNM (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2531251	NM_145728.3(SYNM):c.1454A>C (p.Glu485Ala)	SYNM (E485A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172834	NM_145728.3(SYNM):c.1662C>G (p.Ser554Arg)	SYNM (S554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172835	NM_145728.3(SYNM):c.1770G>C (p.Glu590Asp)	SYNM (E590D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373611	NM_145728.3(SYNM):c.1783G>T (p.Gly595Cys)	SYNM (G595C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616967	NM_145728.3(SYNM):c.1856G>A (p.Arg619Lys)	SYNM (R619K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323967	NM_145728.3(SYNM):c.1931C>T (p.Thr644Ile)	SYNM (T644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224283	NM_145728.3(SYNM):c.1931C>G (p.Thr644Ser)	SYNM (T644S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458860	NM_145728.3(SYNM):c.2096C>T (p.Ser699Phe)	SYNM (S699F)	Single nucleotide variant (missense variant)	SYNM-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2589522	NM_145728.3(SYNM):c.2294C>T (p.Ser765Phe)	SYNM (S765F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3323966	NM_145728.3(SYNM):c.2358G>C (p.Glu786Asp)	SYNM (E786D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323972	NM_145728.3(SYNM):c.2521G>A (p.Gly841Arg)	SYNM (G841R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617847	NM_145728.3(SYNM):c.2624G>T (p.Arg875Met)	SYNM (R875M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323964	NM_145728.3(SYNM):c.2753C>T (p.Ala918Val)	SYNM (A918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458887	NM_145728.3(SYNM):c.2948C>T (p.Ser983Phe)	SYNM (S983F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2462302	NM_145728.3(SYNM):c.3114C>A (p.Ser1038Arg)	SYNM (S1038R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546287	NM_145728.3(SYNM):c.3226C>T (p.Pro1076Ser)	SYNM (P1076S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379108	NM_145728.3(SYNM):c.3271G>A (p.Gly1091Arg)	SYNM (G1091R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172836	NM_145728.3(SYNM):c.3335C>T (p.Ala1112Val)	SYNM (A1112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051187	NM_145728.3(SYNM):c.3494C>T (p.Thr1165Ile)	SYNM (T1165I)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2456565	NM_145728.3(SYNM):c.3680A>G (p.Gln1227Arg)	SYNM (Q1227R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599520	NM_145728.3(SYNM):c.3867G>T (p.Leu1289Phe)	SYNM (L1289F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249638	NM_145728.3(SYNM):c.3877G>A (p.Gly1293Arg)	SYNM (G1293R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550725	NM_145728.3(SYNM):c.3898G>C (p.Gly1300Arg)	SYNM (G1300R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172837	NM_145728.3(SYNM):c.3992C>T (p.Pro1331Leu)	SYNM (P1331L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172838	NM_145728.3(SYNM):c.4094T>C (p.Val1365Ala)	SYNM (V1365A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323968	NM_145728.3(SYNM):c.4118A>G (p.Gln1373Arg)	SYNM (Q1373R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372661	NM_145728.3(SYNM):c.4304C>T (p.Ser1435Phe)	SYNM (S1435F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377050	NM_145728.3(SYNM):c.4384T>G (p.Phe1462Val)	SYNM (F1462V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551332	NM_145728.3(SYNM):c.4577T>A (p.Phe1526Tyr)	SYNM (F1526Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 65