GYS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Hereditary hyperferritinemia with congenital cataracts +5 more	GBenign
Select item 1321548	NC_000019.10:g.48967978T>C	GYS1	Single nucleotide variant	not provided	GLikely benign
Select item 1281183	NC_000019.10:g.48968073T>C	GYS1	Single nucleotide variant	not provided	GBenign
Select item 3054362	NM_002103.5(GYS1):c.*1121C>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition	GBenign
Select item 329790	NM_002103.5(GYS1):c.1113_1116del	FTL, GYS1	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329791	NM_002103.5(GYS1):c.*1044T>G	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894519	NM_002103.5(GYS1):c.*969C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329792	NM_002103.5(GYS1):c.*908G>A	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 329793	NM_002103.5(GYS1):c.*868A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 329794	NM_002103.5(GYS1):c.*841A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 329795	NM_002103.5(GYS1):c.*824del	GYS1, LOC130064893	Deletion (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329796	NM_002103.5(GYS1):c.*725C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GBenign/Likely benign
Select item 329797	NM_002103.5(GYS1):c.*659C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 369275	NM_002103.5(GYS1):c.*611C>T	FTL, GYS1	Single nucleotide variant (non-coding transcript variant +1 more)	Neuroferritinopathy +2 more	GLikely benign
Select item 329798	NM_002103.5(GYS1):c.*472G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893097	NM_002103.5(GYS1):c.*465G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329799	NM_002103.5(GYS1):c.*450G>A	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 369277	NM_002103.5(GYS1):c.*421A>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GLikely benign
Select item 893098	NM_002103.5(GYS1):c.*413G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893099	NM_002103.5(GYS1):c.*395C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1334380	NM_002103.5(GYS1):c.*387G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 329800	NM_002103.5(GYS1):c.*370A>C	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
Select item 3029216	NM_002103.5(GYS1):c.*367C>T	FTL, GYS1	Single nucleotide variant (non-coding transcript variant +1 more)	FTL-related condition	GLikely benign
Select item 893305	NM_002103.5(GYS1):c.*357G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329801	NM_002103.5(GYS1):c.*301G>A	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 893306	NM_002103.5(GYS1):c.*256G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 893307	NM_002103.5(GYS1):c.*229C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893308	NM_002103.5(GYS1):c.*143C>G	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893309	NM_002103.5(GYS1):c.*110G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329802	NM_002103.5(GYS1):c.*78C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894148	NM_002103.5(GYS1):c.*59A>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329803	NM_002103.5(GYS1):c.*26G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 966238	NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)	GYS1	Single nucleotide variant (stop lost +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1418175	NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr)	GYS1 (N673Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 861694	NM_002103.5(GYS1):c.2207del (p.Arg736fs)	GYS1 (R672fs +1 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329804	NM_002103.5(GYS1):c.2207G>A (p.Arg736His)	FTL, GYS1 (R736H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
Select item 837003	NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)	GYS1 (R672C +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1391102	NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln)	GYS1 (E735Q +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 1469381	NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp)	GYS1 (G669D +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	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 1968625	NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser)	GYS1 (P728S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1531542	NM_002103.5(GYS1):c.2178C>T (p.Leu726=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1403031	NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)	GYS1 (E724K +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
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 1405187	NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn)	GYS1 (S659N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1492332	NM_002103.5(GYS1):c.2165del (p.Pro722fs)	GYS1 (P658fs +1 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1352408	NM_002103.5(GYS1):c.2138C>T (p.Thr713Met)	GYS1 (T649M +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1490781	NM_002103.5(GYS1):c.2132T>A (p.Val711Glu)	GYS1 (V647E +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1549800	NM_002103.5(GYS1):c.2124C>G (p.Arg708=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 844469	NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)	GYS1 (R644G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894149	NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)	GYS1 (K643T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1467978	NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly)	GYS1 (S640G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 836504	NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)	GYS1 (S638F +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1010299	NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)	GYS1 (C635F +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1354257	NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro)	GYS1 (S634P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1362418	NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs)	GYS1 (R631fs +1 more)	Microsatellite (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2066982	NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg)	GYS1 (P630R +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2067096	NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg)	GYS1 (W629R +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1151892	NM_002103.5(GYS1):c.2070A>G (p.Ala690=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1006088	NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)	GYS1 (R625C +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 3047279	NM_002103.5(GYS1):c.2064C>A (p.Ile688=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related condition	GLikely benign
Select item 1521793	NM_002103.5(GYS1):c.2057G>A (p.Arg686His)	GYS1 (R686H +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1965498	NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys)	GYS1 (R622C +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1018906	NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)	GYS1 (A618T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
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 369281	NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 985784	NM_002103.5(GYS1):c.2042C>T (p.Ala681Val)	GYS1 (A617V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1521625	NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys)	GYS1 (E616K +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894150	NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)	GYS1 (E679K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1024883	NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)	GYS1 (D614N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1444034	NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs)	GYS1 (D676fs +1 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1021262	NM_002103.5(GYS1):c.2021G>A (p.Arg674His)	GYS1 (R610H +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 957665	NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)	GYS1 (E609K +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1550756	NM_002103.5(GYS1):c.2016C>A (p.Gly672=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 945494	NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)	GYS1 (G608S +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 329805	NM_002103.5(GYS1):c.2013C>T (p.Asp671=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GConflicting classifications of pathogenicity
Select item 1400081	NM_002103.5(GYS1):c.2012A>T (p.Asp671Val)	GYS1 (D671V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 999215	NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)	GYS1 (E606G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1009397	NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)	GYS1 (E606K +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
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 1156408	NM_002103.5(GYS1):c.2001G>T (p.Pro667=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 511671	NM_002103.5(GYS1):c.2001G>A (p.Pro667=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 1131182	NM_002103.5(GYS1):c.1995C>T (p.Asn665=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2061721	NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser)	GYS1 (N601S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329806	NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)	GYS1 (R664W +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1959731	NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser)	GYS1 (P663S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 934446	NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)	GYS1 (D662G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1360034	NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter)	GYS1 (Q656* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1620327	NM_002103.5(GYS1):c.1962G>A (p.Pro654=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 329807	NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu)	GYS1 (P654L +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 1575860	NM_002103.5(GYS1):c.1932G>A (p.Pro644=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 389185	NM_002103.5(GYS1):c.1926G>T (p.Val642=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 329808	NM_002103.5(GYS1):c.1926G>A (p.Val642=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Neuroferritinopathy +3 more	GBenign/Likely benign
Select item 916245	NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)	GYS1 (S641L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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