Related gene-specific medical variations for Gene (Select 23336) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 722467	NM_145728.3(SYNM):c.598C>T (p.Gln200Ter)	SYNM, SYNM-AS1 (Q200*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
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 711160	NM_145728.3(SYNM):c.609G>C (p.Glu203Asp)	SYNM, SYNM-AS1 (E203D)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 48