GYS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 +1 more	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 disorder	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 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)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +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)	Inborn genetic diseases +1 more	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 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 +1 more	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 916245	NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)	GYS1 (S641L +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more	GUncertain significance
Select item 1931550	NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)	GYS1 (A640S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1428619	NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp)	GYS1 (R574W +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1400706	NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu)	GYS1 (P573L +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 651479	NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala)	GYS1 (P637A +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1117475	NM_002103.5(GYS1):c.1908C>T (p.Tyr636=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1381481	NM_002103.5(GYS1):c.1904G>A (p.Arg635His)	GYS1 (R635H +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 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 1570123	NM_002103.5(GYS1):c.1899G>T (p.Gly633=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 515069	NM_002103.5(GYS1):c.1899G>A (p.Gly633=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1021949	NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)	GYS1 (G569V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1597989	NM_002103.5(GYS1):c.1891-11G>A	GYS1	Single nucleotide variant (intron variant)	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 2090648	NM_002103.5(GYS1):c.1890+1G>T	GYS1	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 845147	NM_002103.5(GYS1):c.1890G>A (p.Ala630=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GUncertain significance
Select item 1381048	NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu)	GYS1 (A564L +1 more)	Indel (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 576955	NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys)	GYS1 (E627K +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 894555	NM_002103.5(GYS1):c.1872G>A (p.Glu624=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1362144	NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys)	GYS1 (E560K +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1474001	NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile)	GYS1 (T558I +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1043805	NM_002103.5(GYS1):c.1859A>G (p.His620Arg)	GYS1 (H556R +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
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

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