ClinVar for MedGen (Select 409741) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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=)	GYS1, LOC119369037	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 2579599	NM_002103.5(GYS1):c.1645+1G>A	GYS1, LOC119369037	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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 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 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 (non-coding transcript 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 2211920	NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)	GYS1 (A234T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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
Select item 2169543	NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)	GYS1, LOC119369037 (P545L +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2168575	NM_002103.5(GYS1):c.1255A>G (p.Met419Val)	GYS1 (M355V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2167553	NM_002103.5(GYS1):c.1839G>C (p.Leu613=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2166685	NM_002103.5(GYS1):c.1170-6C>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2165690	NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)	GYS1 (D407N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2161235	NM_002103.5(GYS1):c.988G>C (p.Gly330Arg)	GYS1 (G330R +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2158967	NM_002103.5(GYS1):c.1169+19G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2156249	NM_002103.5(GYS1):c.447C>T (p.Asn149=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2154637	NM_002103.5(GYS1):c.1645+18T>C	GYS1, LOC119369037	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2154626	NM_002103.5(GYS1):c.492+16C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2153055	NM_002103.5(GYS1):c.1185G>A (p.Thr395=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2151737	NM_002103.5(GYS1):c.1891-19C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2151259	NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)	GYS1 (S495N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2151065	NM_002103.5(GYS1):c.1763G>A (p.Arg588His)	GYS1 (R524H +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2149995	NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)	GYS1 (R650* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2149693	NM_002103.5(GYS1):c.1646-4A>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2147225	NM_002103.5(GYS1):c.1716C>T (p.Tyr572=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2146827	NM_002103.5(GYS1):c.7_8del (p.Leu3fs)	GYS1 (L3fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2146784	NM_002103.5(GYS1):c.1200C>T (p.Phe400=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2146782	NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)	GYS1 (G401R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2146045	NM_002103.5(GYS1):c.941+20A>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2145960	NM_002103.5(GYS1):c.437G>A (p.Arg146His)	GYS1 (R146H)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2144312	NM_002103.5(GYS1):c.1170-20T>C	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2143828	NM_002103.5(GYS1):c.1229+15C>G	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2143455	NM_002103.5(GYS1):c.941+5G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2142475	NM_002103.5(GYS1):c.1810-11C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2142432	NM_002103.5(GYS1):c.382C>T (p.Arg128Cys)	GYS1 (R128C)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2142145	NM_002103.5(GYS1):c.1423-15_1423-13del	GYS1	Microsatellite (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2140358	NM_002103.5(GYS1):c.432C>T (p.Tyr144=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GLikely benign
Select item 2139836	NM_002103.5(GYS1):c.176G>A (p.Gly59Asp)	GYS1 (G59D)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2138857	NM_002103.5(GYS1):c.985G>A (p.Ala329Thr)	GYS1 (A265T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2138317	NM_002103.5(GYS1):c.1230-2A>G	GYS1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2131841	NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)	GYS1 (K50N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2123608	NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys)	GYS1 (N665K +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2116765	NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser)	GYS1 (A616S +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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