"PreventionGenetics, part of Exact Sciences"[submitter] AND "SYNM"[gen - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 716222	NM_145728.3(SYNM):c.538C>T (p.Leu180=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 711160	NM_145728.3(SYNM):c.609G>C (p.Glu203Asp)	SYNM, SYNM-AS1 (E203D)	Single nucleotide variant (missense variant)	SYNM-related disorder +1 more	GBenign
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 3053948	NM_145728.3(SYNM):c.801G>A (p.Glu267=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	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 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 3035351	NM_145728.3(SYNM):c.1595C>T (p.Ser532Phe)	SYNM (S532F)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3034689	NM_145728.3(SYNM):c.1699C>T (p.Pro567Ser)	SYNM (P567S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3031508	NM_145728.3(SYNM):c.1839A>G (p.Ala613=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3032040	NM_145728.3(SYNM):c.1910C>T (p.Thr637Ile)	SYNM (T637I)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3036721	NM_145728.3(SYNM):c.1998A>G (p.Thr666=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 2458860	NM_145728.3(SYNM):c.2096C>T (p.Ser699Phe)	SYNM (S699F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3052885	NM_145728.3(SYNM):c.2238G>A (p.Val746=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3035289	NM_145728.3(SYNM):c.2281C>T (p.Pro761Ser)	SYNM (P761S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
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 3040198	NM_145728.3(SYNM):c.2700G>A (p.Gly900=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3047498	NM_145728.3(SYNM):c.2882C>T (p.Pro961Leu)	SYNM (P961L)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3054038	NM_145728.3(SYNM):c.2906C>T (p.Ser969Phe)	SYNM (S969F)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 2458887	NM_145728.3(SYNM):c.2948C>T (p.Ser983Phe)	SYNM (S983F)	Single nucleotide variant (missense variant)	SYNM-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3037005	NM_145728.3(SYNM):c.3051G>T (p.Glu1017Asp)	SYNM (E1017D)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 386702	NM_145728.3(SYNM):c.3114C>T (p.Ser1038=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder +1 more	GLikely benign
Select item 3041056	NM_145728.3(SYNM):c.3173C>T (p.Ala1058Val)	SYNM (A1058V)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3035350	NM_145728.3(SYNM):c.3175C>T (p.Pro1059Ser)	SYNM (P1059S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3035872	NM_145728.3(SYNM):c.3194T>C (p.Phe1065Ser)	SYNM (F1065S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3052420	NM_145728.3(SYNM):c.3209C>T (p.Thr1070Ile)	SYNM (T1070I)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
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 3051659	NM_145728.3(SYNM):c.3533C>T (p.Pro1178Leu)	SYNM (P1178L)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3052863	NM_145728.3(SYNM):c.3978C>T (p.Tyr1326=)	SYNM	Single nucleotide variant (synonymous variant +1 more)	SYNM-related disorder	GBenign
Select item 3035393	NM_145728.3(SYNM):c.4033G>C (p.Gly1345Arg)	SYNM (G1345R)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder	GBenign
Select item 3046572	NM_145728.3(SYNM):c.4205G>A (p.Arg1402Lys)	SYNM (R1402K)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder	GBenign
Select item 3030296	NM_145728.3(SYNM):c.4416C>T (p.Ile1472=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3045624	NM_145728.3(SYNM):c.4635A>G (p.Glu1545=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3046796	NM_145728.3(SYNM):c.*8A>G	SYNM	Single nucleotide variant (3 prime UTR variant)	SYNM-related disorder	GLikely benign

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Items: 50