ClinVar for Gene (Select 11346) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342009	NM_007286.6(SYNPO):c.2516G>T (p.Arg839Leu)	SYNPO (R839L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3323978	NM_007286.6(SYNPO):c.1903A>G (p.Thr635Ala)	SYNPO (T635A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323977	NM_007286.6(SYNPO):c.2154C>A (p.Ser718Arg)	LOC129995010, SYNPO (S718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323976	NM_007286.6(SYNPO):c.2009A>G (p.Asn670Ser)	SYNPO (N914S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323975	NM_007286.6(SYNPO):c.2294C>T (p.Ala765Val)	SYNPO (A765V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323974	NM_007286.6(SYNPO):c.35G>A (p.Arg12Gln)	SYNPO (R12Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323973	NM_007286.6(SYNPO):c.500C>G (p.Thr167Ser)	SYNPO (T167S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172861	NM_007286.6(SYNPO):c.-257A>G	SYNPO (Q159R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172860	NM_007286.6(SYNPO):c.-284A>C	SYNPO (K150T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172859	NM_007286.6(SYNPO):c.2011G>A (p.Ala671Thr)	SYNPO (A915T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172858	NM_007286.6(SYNPO):c.1936T>C (p.Ser646Pro)	SYNPO (S890P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172857	NM_007286.6(SYNPO):c.1814G>A (p.Gly605Glu)	SYNPO (G605E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172856	NM_007286.6(SYNPO):c.2354C>A (p.Pro785Gln)	SYNPO (P785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172855	NM_007286.6(SYNPO):c.2351C>T (p.Ser784Phe)	SYNPO (S784F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172854	NM_007286.6(SYNPO):c.1579G>A (p.Gly527Arg)	SYNPO (G527R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172853	NM_007286.6(SYNPO):c.2288A>G (p.Asn763Ser)	SYNPO (N763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172851	NM_007286.6(SYNPO):c.1130G>A (p.Arg377His)	SYNPO (R377H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172850	NM_007286.6(SYNPO):c.847C>T (p.Arg283Trp)	SYNPO (R283W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172849	NM_007286.6(SYNPO):c.700T>C (p.Ser234Pro)	SYNPO (S234P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172848	NM_007286.6(SYNPO):c.566C>G (p.Ser189Cys)	SYNPO (S189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172847	NM_007286.6(SYNPO):c.490G>A (p.Ala164Thr)	SYNPO (A408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172846	NM_007286.6(SYNPO):c.419A>T (p.Asp140Val)	SYNPO (D140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172844	NM_007286.6(SYNPO):c.359A>C (p.Glu120Ala)	SYNPO (E120A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017982	NM_007286.6(SYNPO):c.2361_2366dup (p.Pro789_Pro790insAlaPro)	SYNPO	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3016682	NM_007286.6(SYNPO):c.2354C>G (p.Pro785Arg)	SYNPO (P785R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015334	NM_007286.6(SYNPO):c.1326C>T (p.Pro442=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961568	NM_007286.6(SYNPO):c.1802A>G (p.Asn601Ser)	SYNPO (N845S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919697	NM_007286.6(SYNPO):c.1939C>T (p.Pro647Ser)	SYNPO (P891S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2912043	NM_007286.6(SYNPO):c.302C>T (p.Pro101Leu)	SYNPO (P101L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2901698	NM_007286.6(SYNPO):c.381C>T (p.Gly127=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899196	NM_007286.6(SYNPO):c.1881C>T (p.Pro627=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898563	NM_007286.6(SYNPO):c.1882G>A (p.Gly628Ser)	SYNPO (G628S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890066	NM_007286.6(SYNPO):c.783G>A (p.Glu261=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885973	NM_007286.6(SYNPO):c.824C>G (p.Pro275Arg)	SYNPO (P275R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885372	NM_007286.6(SYNPO):c.2029-3del	LOC129995010, SYNPO	Deletion (intron variant)	not provided	GBenign
Select item 2884383	NM_007286.6(SYNPO):c.1392G>A (p.Lys464=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883956	NM_007286.6(SYNPO):c.2250C>G (p.Ser750Arg)	SYNPO (S750R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881479	NM_007286.6(SYNPO):c.885G>A (p.Val295=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879670	NM_007286.6(SYNPO):c.1942G>A (p.Val648Met)	SYNPO (V648M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878486	NM_007286.6(SYNPO):c.2463G>A (p.Ala821=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876784	NM_007286.6(SYNPO):c.2678G>A (p.Gly893Asp)	SYNPO (G893D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875641	NM_007286.6(SYNPO):c.2510G>A (p.Ser837Asn)	SYNPO (S837N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873649	NM_007286.6(SYNPO):c.2115G>A (p.Pro705=)	LOC129995010, SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871325	NM_007286.6(SYNPO):c.2029-11T>C	LOC129995010, SYNPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868665	NM_007286.6(SYNPO):c.1666C>T (p.Arg556Cys)	SYNPO (R556C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867681	NM_007286.6(SYNPO):c.1019A>G (p.Tyr340Cys)	SYNPO (Y340C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862353	NM_007286.6(SYNPO):c.809C>T (p.Pro270Leu)	SYNPO (P270L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799276	NM_007286.6(SYNPO):c.1933A>G (p.Ile645Val)	SYNPO (I645V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799259	NM_007286.6(SYNPO):c.811G>A (p.Ala271Thr)	SYNPO (A271T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788926	NM_007286.6(SYNPO):c.2515C>T (p.Arg839Trp)	SYNPO (R839W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788754	NM_007286.6(SYNPO):c.2177C>T (p.Pro726Leu)	LOC129995010, SYNPO (P726L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787482	NM_007286.6(SYNPO):c.12C>T (p.Tyr4=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741711	NM_007286.6(SYNPO):c.2394G>A (p.Pro798=)	LOC129995011, SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728181	NM_007286.6(SYNPO):c.2010C>T (p.Asn670=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727107	NM_007286.6(SYNPO):c.924G>A (p.Glu308=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713207	NM_007286.6(SYNPO):c.2366_2367insCCCGCC (p.Pro800_Arg801insProPro)	SYNPO	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2712311	NM_007286.6(SYNPO):c.224C>T (p.Ser75Leu)	SYNPO (S75L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2707544	NM_007286.6(SYNPO):c.297C>T (p.Asn99=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690214	NM_007286.6(SYNPO):c.1687C>T (p.Pro563Ser)	SYNPO (P563S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2655938	NM_001166208.2(SYNPO):c.389C>T (p.Ala130Val)	SYNPO (A130V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2631075	NM_001166208.2(SYNPO):c.230del (p.Pro77fs)	SYNPO (P77fs)	Deletion (frameshift variant)	SYNPO-related disorder	GUncertain significance
Select item 2610432	NM_007286.6(SYNPO):c.2669T>C (p.Leu890Pro)	SYNPO (L890P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605980	NM_007286.6(SYNPO):c.1091C>T (p.Thr364Met)	SYNPO (T364M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597096	NM_007286.6(SYNPO):c.2056C>G (p.Pro686Ala)	LOC129995010, SYNPO (P686A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592397	NM_007286.6(SYNPO):c.2107G>A (p.Val703Met)	LOC129995010, SYNPO (V703M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2569801	NM_007286.6(SYNPO):c.2705C>T (p.Thr902Ile)	SYNPO (T902I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568450	NM_007286.6(SYNPO):c.2591C>T (p.Ser864Phe)	SYNPO (S864F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568449	NM_007286.6(SYNPO):c.1862C>A (p.Pro621Gln)	SYNPO (P621Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549760	NM_007286.6(SYNPO):c.970A>T (p.Thr324Ser)	SYNPO (T568S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546099	NM_007286.6(SYNPO):c.1604G>A (p.Ser535Asn)	SYNPO (S779N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537203	NM_007286.6(SYNPO):c.556G>C (p.Asp186His)	SYNPO (D430H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520751	NM_007286.6(SYNPO):c.2440G>A (p.Ala814Thr)	SYNPO (A814T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520055	NM_007286.6(SYNPO):c.-128G>C	SYNPO (R202T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509950	NM_007286.6(SYNPO):c.2062T>C (p.Trp688Arg)	LOC129995010, SYNPO (W688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508392	NM_007286.6(SYNPO):c.-71C>T	SYNPO (S221L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2508228	NM_007286.6(SYNPO):c.1852C>T (p.Arg618Cys)	SYNPO (R862C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490726	NM_007286.6(SYNPO):c.361G>A (p.Ala121Thr)	SYNPO (A365T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481823	NM_007286.6(SYNPO):c.2242C>T (p.Pro748Ser)	SYNPO (P748S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469779	NM_007286.6(SYNPO):c.2342G>A (p.Arg781Gln)	SYNPO (R781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466006	NM_007286.6(SYNPO):c.881T>C (p.Met294Thr)	SYNPO (M294T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462801	NM_007286.6(SYNPO):c.2204G>C (p.Arg735Pro)	LOC129995010, SYNPO (R735P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457104	NM_007286.6(SYNPO):c.1738C>T (p.Pro580Ser)	SYNPO (P580S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2421390	NM_007286.6(SYNPO):c.872G>A (p.Arg291His)	SYNPO (R291H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418573	NM_007286.6(SYNPO):c.651G>A (p.Thr217=)	SYNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413958	NM_007286.6(SYNPO):c.2332G>A (p.Glu778Lys)	SYNPO (E778K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2411032	NM_007286.6(SYNPO):c.323G>A (p.Ser108Asn)	SYNPO (S108N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409507	NM_007286.6(SYNPO):c.1505C>T (p.Thr502Met)	SYNPO (T746M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406401	NM_007286.6(SYNPO):c.1703G>A (p.Arg568His)	SYNPO (R812H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405249	NM_007286.6(SYNPO):c.-233A>G	SYNPO (N167S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402671	NM_007286.6(SYNPO):c.2434T>C (p.Ser812Pro)	SYNPO (S812P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395656	NM_007286.6(SYNPO):c.1246G>A (p.Val416Met)	SYNPO (V660M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394798	NM_007286.6(SYNPO):c.2402G>T (p.Arg801Leu)	LOC129995011, SYNPO (R801L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372116	NM_007286.6(SYNPO):c.2339C>G (p.Pro780Arg)	SYNPO (P780R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366900	NM_007286.6(SYNPO):c.776T>C (p.Met259Thr)	SYNPO (M503T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365427	NM_007286.6(SYNPO):c.470T>C (p.Ile157Thr)	SYNPO (I157T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327563	NM_007286.6(SYNPO):c.1763C>A (p.Ala588Asp)	SYNPO (A832D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308143	NM_007286.6(SYNPO):c.-227G>A	SYNPO (R169H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2284329	NM_007286.6(SYNPO):c.1948C>T (p.Pro650Ser)	SYNPO (P650S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258979	NM_007286.6(SYNPO):c.2057C>A (p.Pro686Gln)	LOC129995010, SYNPO (P686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258332	NM_007286.6(SYNPO):c.1555T>A (p.Trp519Arg)	SYNPO (W519R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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