ClinVar for Gene (Select 2998) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352145	NM_021957.4(GYS2):c.1191G>A (p.Lys397=)	GYS2	Single nucleotide variant (synonymous variant)	GYS2-related disorder	GLikely benign
Select item 3346542	NM_021957.4(GYS2):c.823G>C (p.Asp275His)	GYS2 (D275H)	Single nucleotide variant (missense variant)	GYS2-related disorder	GUncertain significance
Select item 3345455	NM_021957.4(GYS2):c.1528G>A (p.Glu510Lys)	GYS2 (E510K)	Single nucleotide variant (missense variant)	GYS2-related disorder	GUncertain significance
Select item 3339273	NM_021957.4(GYS2):c.50dup (p.Trp18fs)	GYS2 (W18fs)	Duplication (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 3283215	NM_021957.4(GYS2):c.1987G>A (p.Val663Met)	GYS2 (V663M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283214	NM_021957.4(GYS2):c.809T>C (p.Leu270Pro)	GYS2 (L270P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283213	NM_021957.4(GYS2):c.671T>C (p.Leu224Pro)	GYS2 (L224P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283211	NM_021957.4(GYS2):c.616G>A (p.Ala206Thr)	GYS2 (A206T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283210	NM_021957.4(GYS2):c.295G>C (p.Gly99Arg)	GYS2 (G99R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283209	NM_021957.4(GYS2):c.449A>G (p.Asn150Ser)	GYS2 (N150S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244319	NC_000012.11:g.(?_21689888)_(21711267_?)del	GYS2	Deletion	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 3244318	NC_000012.11:g.(?_21733256)_(21757526_?)del	GYS2	Deletion	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 3103393	NM_021957.4(GYS2):c.98T>C (p.Val33Ala)	GYS2 (V33A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103392	NM_021957.4(GYS2):c.86T>C (p.Leu29Pro)	GYS2 (L29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103391	NM_021957.4(GYS2):c.680T>C (p.Phe227Ser)	GYS2 (F227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103390	NM_021957.4(GYS2):c.674A>T (p.Asp225Val)	GYS2 (D225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103389	NM_021957.4(GYS2):c.605T>C (p.Phe202Ser)	GYS2 (F202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103388	NM_021957.4(GYS2):c.566T>A (p.Ile189Asn)	GYS2 (I189N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103387	NM_021957.4(GYS2):c.256G>A (p.Asp86Asn)	GYS2 (D86N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103385	NM_021957.4(GYS2):c.2060T>A (p.Leu687Gln)	GYS2 (L687Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103384	NM_021957.4(GYS2):c.2023G>A (p.Glu675Lys)	GYS2 (E675K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065822	NM_021957.4(GYS2):c.1701_1704del (p.Thr568fs)	GYS2 (T568fs)	Deletion (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic
Select item 3065280	NM_021957.4:c.171_1705del	GYS2	Deletion	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 3065279	NM_021957.4(GYS2):c.170_171del (p.Asp57fs)	GYS2 (D57fs)	Deletion (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3052602	NM_021957.4(GYS2):c.1809+4_1809+13del	GYS2	Deletion (splice donor variant)	GYS2-related disorder	GUncertain significance
Select item 3048585	NM_021957.4(GYS2):c.1320G>A (p.Leu440=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	GYS2-related disorder	GLikely benign
Select item 3017508	NM_021957.4(GYS2):c.1549+12G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2990924	NM_021957.4(GYS2):c.823+18A>G	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2990242	NM_021957.4(GYS2):c.513T>C (p.Asp171=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2986212	NM_021957.4(GYS2):c.2068G>A (p.Val690Ile)	GYS2 (V690I)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2879086	NM_021957.4(GYS2):c.464T>G (p.Phe155Cys)	GYS2 (F155C)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2812941	NM_021957.4(GYS2):c.1229+20_1229+26del	GYS2	Deletion (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2806152	NM_021957.4(GYS2):c.1335G>A (p.Thr445=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2785529	NM_021957.4(GYS2):c.941+20A>G	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2781364	NM_021957.4(GYS2):c.495+10A>G	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2759435	NM_021957.4(GYS2):c.574C>A (p.Arg192=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign
Select item 2747869	NM_021957.4(GYS2):c.1062+13T>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2728310	NM_021957.4(GYS2):c.1229+11G>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2728309	NM_021957.4(GYS2):c.1245C>T (p.Asp415=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2725889	NM_021957.4(GYS2):c.1739G>A (p.Arg580His)	GYS2 (R580H)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2724569	NM_021957.4(GYS2):c.840C>T (p.Asn280=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2716499	NM_021957.4(GYS2):c.496-11dup	GYS2	Duplication (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2634940	NM_021957.4(GYS2):c.1557_1579del (p.Thr520fs)	GYS2 (T520fs)	Deletion (frameshift variant)	GYS2-related disorder	GLikely pathogenic
Select item 2541533	NM_021957.4(GYS2):c.966G>C (p.Lys322Asn)	GYS2 (K322N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532975	NM_021957.4(GYS2):c.626T>C (p.Leu209Pro)	GYS2 (L209P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489712	NM_021957.4(GYS2):c.993G>T (p.Arg331Ser)	GYS2 (R331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485017	NM_021957.4(GYS2):c.739G>C (p.Ala247Pro)	GYS2 (A247P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474965	NM_021957.4(GYS2):c.688G>A (p.Asp230Asn)	GYS2 (D230N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460109	NM_021957.4(GYS2):c.1118A>G (p.Asn373Ser)	GYS2 (N373S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2440667	NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)	GYS2 (Q585*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic
Select item 2432354	NM_021957.4(GYS2):c.601A>T (p.Ile201Leu)	GYS2 (I201L)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2423437	NC_000012.11:g.(?_20522219)_(22089608_?)dup	ABCC9, GOLT1B +13 more	Duplication	not provided	GUncertain significance
Select item 2393191	NM_021957.4(GYS2):c.1709T>C (p.Phe570Ser)	GYS2 (F570S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383278	NM_021957.4(GYS2):c.1735C>T (p.Arg579Cys)	GYS2 (R579C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315659	NM_021957.4(GYS2):c.1667G>A (p.Arg556Gln)	GYS2 (R556Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302827	NM_021957.4(GYS2):c.1421A>G (p.Lys474Arg)	GYS2, LOC126861480 (K474R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289450	NM_021957.4(GYS2):c.773T>A (p.Val258Asp)	GYS2 (V258D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275011	NM_021957.4(GYS2):c.346G>A (p.Val116Ile)	GYS2 (V116I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274955	NM_021957.4(GYS2):c.1079T>C (p.Ile360Thr)	GYS2 (I360T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246485	NM_021957.4(GYS2):c.891T>G (p.His297Gln)	GYS2 (H297Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234240	NM_021957.4(GYS2):c.1577G>T (p.Ser526Ile)	GYS2 (S526I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225140	NM_021957.4(GYS2):c.514G>A (p.Gly172Ser)	GYS2 (G172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221060	NM_021957.4(GYS2):c.728G>T (p.Cys243Phe)	GYS2 (C243F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175667	NM_021957.4(GYS2):c.710_711delinsCC (p.Gln237Pro)	GYS2 (Q237P)	Indel (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2161127	NM_021957.4(GYS2):c.942-2A>G	GYS2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic
Select item 2153549	NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)	GYS2, LOC126861480 (D471fs)	Deletion (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic/Likely pathogenic
Select item 2148853	NM_021957.4(GYS2):c.294T>C (p.His98=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 2127555	NM_021957.4(GYS2):c.308A>G (p.His103Arg)	GYS2 (H103R)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 2093847	NM_021957.4(GYS2):c.376_377del (p.Asn126fs)	GYS2 (N126fs)	Deletion (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 2054041	NM_021957.4(GYS2):c.1176T>C (p.Val392=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1981894	NM_021957.4(GYS2):c.174A>G (p.Glu58=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1940906	NM_021957.4(GYS2):c.693A>C (p.Lys231Asn)	GYS2 (K231N)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1935105	NM_021957.4(GYS2):c.2033G>T (p.Arg678Leu)	GYS2 (R678L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1931523	NM_021957.4(GYS2):c.283A>G (p.Met95Val)	GYS2 (M95V)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1903446	NM_021957.4(GYS2):c.420C>G (p.Val140=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1806174	NM_021957.4(GYS2):c.522T>G (p.Tyr174Ter)	GYS2 (Y174*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 1801419	NM_021957.4(GYS2):c.122-3879_122-3845del	GYS2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	PTPRO, PYROXD1 +85 more	Copy number loss	not provided	GPathogenic
Select item 1699496	NM_021957.4(GYS2):c.1331C>A (p.Thr444Asn)	GYS2, LOC126861480 (T444N)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1687375	NM_021957.4(GYS2):c.841G>A (p.Gly281Ser)	GYS2 (G281S)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1678032	NM_021957.4(GYS2):c.312del (p.Phe104fs)	GYS2 (F104fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1621516	NM_021957.4(GYS2):c.1384C>A (p.Arg462=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1577510	NM_021957.4(GYS2):c.678+15C>T	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1567458	NM_021957.4(GYS2):c.941+16T>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1566918	NM_021957.4(GYS2):c.495+14T>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1558753	NM_021957.4(GYS2):c.1542T>C (p.Tyr514=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1542129	NM_021957.4(GYS2):c.1550-12T>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1532061	NM_021957.4(GYS2):c.1318T>C (p.Leu440=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 1527691	GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)	AEBP2, GOLT1B +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1506117	NM_021957.4(GYS2):c.257A>G (p.Asp86Gly)	GYS2 (D86G)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1491439	NM_021957.4(GYS2):c.1623C>A (p.His541Gln)	GYS2 (H541Q)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1468008	NM_021957.4(GYS2):c.1924G>A (p.Val642Ile)	GYS2 (V642I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1460968	NM_021957.4(GYS2):c.1405C>T (p.Arg469Cys)	GYS2, LOC126861480 (R469C)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance

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