ClinVar for Gene (Select 2997) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357118	NC_000019.10:g.48968927C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GLikely benign
Select item 3347888	NM_002103.5(GYS1):c.1716_1717del (p.Tyr572_Ser573delinsTer)	GYS1	Deletion (nonsense +1 more)	GYS1-related disorder	GLikely pathogenic
Select item 3283208	NM_002103.5(GYS1):c.1256T>G (p.Met419Arg)	GYS1 (M355R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248455	NC_000019.9:g.(?_49484767)_(49486114_?)del	GYS1	Deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 3248454	NC_000019.9:g.(?_49494539)_(49494760_?)del	GYS1	Deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 3103382	NM_002103.5(GYS1):c.739G>A (p.Ala247Thr)	GYS1 (A247T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3103381	NM_002103.5(GYS1):c.634T>C (p.Tyr212His)	GYS1 (Y148H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076003	NM_002103.5(GYS1):c.989_992del (p.Gly330fs)	GYS1 (G266fs +1 more)	Microsatellite (frameshift variant +1 more)	Glycogen storage disease	GLikely pathogenic
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3054362	NC_000019.10:g.48968167G>C	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GBenign
Select item 3047279	NM_002103.5(GYS1):c.2064C>A (p.Ile688=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder	GLikely benign
Select item 3031421	NM_002103.5(GYS1):c.1831A>G (p.Met611Val)	GYS1 (M547V +1 more)	Single nucleotide variant (missense variant +1 more)	GYS1-related disorder	GUncertain significance
Select item 3029216	NC_000019.10:g.48968921G>A	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GLikely benign
Select item 3013410	NM_002103.5(GYS1):c.2043C>A (p.Ala681=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 3006573	NM_002103.5(GYS1):c.996T>C (p.Tyr332=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 3006272	NM_002103.5(GYS1):c.98C>G (p.Ala33Gly)	GYS1 (A33G)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2996378	NM_002103.5(GYS1):c.1423-10del	GYS1	Deletion (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GBenign
Select item 2995572	NM_002103.5(GYS1):c.301-10C>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2986343	NM_002103.5(GYS1):c.1549+16dup	GYS1	Duplication (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2982497	NM_002103.5(GYS1):c.942-14del	GYS1	Deletion (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2976162	NM_002103.5(GYS1):c.1810-20C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2917333	NM_002103.5(GYS1):c.1074C>T (p.Ser358=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2915706	NM_002103.5(GYS1):c.1299T>C (p.Phe433=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2914170	NM_002103.5(GYS1):c.816G>A (p.Arg272=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2914081	NM_002103.5(GYS1):c.941+10dup	GYS1	Duplication (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GBenign
Select item 2912740	NM_002103.5(GYS1):c.489T>G (p.Gly163=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2908765	NM_002103.5(GYS1):c.192G>A (p.Leu64=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2903138	NM_002103.5(GYS1):c.981T>C (p.Phe327=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2903022	NM_002103.5(GYS1):c.679-18C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2896798	NM_002103.5(GYS1):c.1269A>G (p.Glu423=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2885101	NM_002103.5(GYS1):c.1423-13T>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2883690	NM_002103.5(GYS1):c.168C>T (p.Asp56=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2882459	NM_002103.5(GYS1):c.1042C>A (p.Arg348=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2880195	NM_002103.5(GYS1):c.1646-9C>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2862565	NM_002103.5(GYS1):c.1423-20T>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2859303	NM_002103.5(GYS1):c.942-13G>C	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2840596	NM_002103.5(GYS1):c.1063-17C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2830561	NM_002103.5(GYS1):c.1309-20C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2824876	NM_002103.5(GYS1):c.1662C>T (p.Asp554=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2822038	NM_002103.5(GYS1):c.1815T>C (p.Tyr605=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2818809	NM_002103.5(GYS1):c.1539del (p.Tyr514fs)	GYS1 (Y514fs +1 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2810561	NM_002103.5(GYS1):c.1549+18G>C	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2790645	NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)	GYS1 (S358G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2785000	NM_002103.5(GYS1):c.1164G>A (p.Gln388=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2784567	NM_002103.5(GYS1):c.198G>A (p.Gly66=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2772477	NM_002103.5(GYS1):c.1482G>A (p.Glu494=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2770149	NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)	GYS1 (E57*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2751768	NM_002103.5(GYS1):c.1602C>T (p.Phe534=)	LOC119369037, GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2740341	NM_002103.5(GYS1):c.1229+16T>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2739806	NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg)	GYS1 (S659R +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2723168	NM_002103.5(GYS1):c.1062+15A>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2718346	NM_002103.5(GYS1):c.435C>T (p.Asp145=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2705242	NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs)	GYS1 (E398fs +1 more)	Insertion (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2693837	NM_002103.5(GYS1):c.1194A>G (p.Glu398=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2672782	NM_002103.5(GYS1):c.1349A>T (p.Asp450Val)	GYS1 (D386V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650227	NM_002103.5(GYS1):c.159G>A (p.Val53=)	GYS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630038	NM_002103.5(GYS1):c.636C>A (p.Tyr212Ter)	GYS1 (Y148* +1 more)	Single nucleotide variant (nonsense +1 more)	GYS1-related disorder	GLikely pathogenic
Select item 2604209	NM_002103.5(GYS1):c.1775T>C (p.Leu592Pro)	GYS1 (L528P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579599	NM_002103.5(GYS1):c.1645+1G>A	GYS1, LOC119369037	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GLikely pathogenic
Select item 2540807	NM_002103.5(GYS1):c.1772G>A (p.Arg591His)	GYS1 (R591H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539885	NM_002103.5(GYS1):c.965A>C (p.Lys322Thr)	GYS1 (K322T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432353	NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)	GYS1 (T371M +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 2424356	NC_000019.9:g.(?_49494539)_(49496369_?)dup	GYS1	Duplication	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2422462	NC_000019.9:g.(?_49468350)_(49481434_?)del	FTL, GYS1	Deletion	Hereditary hyperferritinemia with congenital cataracts +1 more	GUncertain significance
Select item 2420747	NM_002103.5(GYS1):c.1646-6C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2418513	NM_002103.5(GYS1):c.1157G>A (p.Arg386His)	GYS1 (R322H +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2417859	NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)	GYS1 (R239Q +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2416446	NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)	GYS1 (R131* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2416123	NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)	GYS1 (P112S)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2415829	NM_002103.5(GYS1):c.1809+13C>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2399147	NM_002103.5(GYS1):c.1309C>T (p.Arg437Trp)	GYS1 (R373W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382117	NM_002103.5(GYS1):c.685G>A (p.Val229Met)	GYS1 (V229M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334858	NM_002103.5(GYS1):c.1096T>C (p.Phe366Leu)	GYS1 (F366L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302248	NM_002103.5(GYS1):c.1316C>A (p.Ser439Tyr)	GYS1 (S375Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302246	NM_002103.5(GYS1):c.1315T>A (p.Ser439Thr)	GYS1 (S375T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295363	NM_002103.5(GYS1):c.374C>T (p.Ala125Val)	GYS1 (A125V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288220	NM_002103.5(GYS1):c.1525T>C (p.Tyr509His)	GYS1 (Y445H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270213	NM_002103.5(GYS1):c.1903C>T (p.Arg635Cys)	GYS1 (R571C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259685	NM_002103.5(GYS1):c.800A>G (p.Gln267Arg)	GYS1 (Q203R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244145	NM_002103.5(GYS1):c.1682A>G (p.Asp561Gly)	GYS1 (D561G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241398	NM_002103.5(GYS1):c.893C>T (p.Ala298Val)	GYS1 (A234V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233158	NM_002103.5(GYS1):c.1690T>G (p.Cys564Gly)	GYS1 (C564G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230075	NM_002103.5(GYS1):c.1783C>A (p.Leu595Ile)	GYS1 (L531I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221204	NM_002103.5(GYS1):c.2182C>G (p.Pro728Ala)	GYS1 (P664A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211920	NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)	GYS1 (A234T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GUncertain significance
Select item 2196540	NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser)	GYS1 (N336S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2196293	NM_002103.5(GYS1):c.1810-7C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2194548	NM_002103.5(GYS1):c.498G>A (p.Leu166=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2191846	NM_002103.5(GYS1):c.2007G>A (p.Glu669=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2188739	NM_002103.5(GYS1):c.1362C>T (p.Asp454=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2185282	NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)	GYS1 (D23N)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GUncertain significance
Select item 2182696	NM_002103.5(GYS1):c.721C>T (p.Arg241Ter)	GYS1 (R241* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2181067	NM_002103.5(GYS1):c.1810-15C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2179734	NM_002103.5(GYS1):c.301-16C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2179730	NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro)	GYS1 (A633P +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2177444	NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)	GYS1 (L285P +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2177339	NM_002103.5(GYS1):c.678+14G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2176176	NM_002103.5(GYS1):c.119-14G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2172190	NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn)	GYS1 (D340N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance

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