"Invitae"[submitter] AND "GYS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 798247	NM_021957.4(GYS2):c.2072C>T (p.Pro691Leu)	GYS2 (P691L)	Single nucleotide variant (missense 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 720229	NM_021957.4(GYS2):c.2068G>T (p.Val690Phe)	GYS2 (V690F)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 137530	NM_021957.4(GYS2):c.2067C>T (p.His689=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 137529	NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)	GYS2 (F685S)	Single nucleotide variant (missense variant)	GYS2-related condition +3 more	GBenign/Likely benign
Select item 1935105	NM_021957.4(GYS2):c.2033G>T (p.Arg678Leu)	GYS2 (R678L)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 214526	NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)	GYS2 (D669N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 631679	NM_021957.4(GYS2):c.1974dup (p.Val659fs)	GYS2 (V659fs)	Duplication (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 137528	NM_021957.4(GYS2):c.1965G>C (p.Gln655His)	GYS2 (Q655H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1468008	NM_021957.4(GYS2):c.1924G>A (p.Val642Ile)	GYS2 (V642I)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 658693	NM_021957.4(GYS2):c.1906T>C (p.Tyr636His)	GYS2 (Y636H)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 307988	NM_021957.4(GYS2):c.1890+12A>G	GYS2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 719047	NM_021957.4(GYS2):c.1889C>T (p.Thr630Met)	GYS2 (T630M)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign/Likely benign
Select item 766741	NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)	GYS2 (S627L)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 137527	NM_021957.4(GYS2):c.1872A>G (p.Glu624=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1127586	NM_021957.4(GYS2):c.1866T>C (p.His622=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
Select item 936980	NM_021957.4(GYS2):c.1829A>G (p.His610Arg)	GYS2 (H610R)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 653240	NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)	GYS2 (L592V)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GUncertain significance
Select item 731239	NM_021957.4(GYS2):c.1767T>C (p.Thr589=)	GYS2	Single nucleotide variant (synonymous variant)	GYS2-related condition +1 more	GBenign/Likely benign
Select item 746429	NM_021957.4(GYS2):c.1746G>A (p.Arg582=)	GYS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 534624	NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys)	GYS2 (R582K)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
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 384249	NM_021957.4(GYS2):c.1710T>C (p.Phe570=)	GYS2	Single nucleotide variant (synonymous variant)	GYS2-related condition +2 more	GLikely benign
Select item 261468	NM_021957.4(GYS2):c.1701G>A (p.Leu567=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GBenign/Likely benign
Select item 648650	NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys)	GYS2 (R558C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 512561	NM_021957.4(GYS2):c.1645+7G>T	GYS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 513242	NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 969451	NM_021957.4(GYS2):c.1638T>A (p.Thr546=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 137526	NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)	GYS2 (T546A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 214533	NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)	GYS2 (E518A)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GConflicting classifications of pathogenicity
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 388255	NM_021957.4(GYS2):c.1549+19G>A	GYS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 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 521873	NM_021957.4(GYS2):c.1477T>A (p.Tyr493Asn)	GYS2 (Y493N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 16053	NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)	GYS2 (M491R)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 137525	NM_021957.4(GYS2):c.1464A>G (p.Leu488=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 16051	NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	GYS2 (P479Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 766550	NM_021957.4(GYS2):c.1422+7C>A	GYS2, LOC126861480	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely benign
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
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
Select item 307994	NM_021957.4(GYS2):c.1389T>C (p.Ile463=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GBenign
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 16056	NM_021957.4(GYS2):c.1336C>G (p.His446Asp)	GYS2, LOC126861480 (H446D)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
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 952317	NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)	GYS2, LOC126861480 (T445M)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 1532061	NM_021957.4(GYS2):c.1318T>C (p.Leu440=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	GYS2-related condition +1 more	GLikely benign
Select item 1058720	NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)	GYS2, LOC126861480 (I427L)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 261465	NM_021957.4(GYS2):c.1251C>T (p.Asn417=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 137524	NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu)	GYS2 (D415E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 307995	NM_021957.4(GYS2):c.1230-5T>G	GYS2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 856711	NM_021957.4(GYS2):c.1230-14dup	GYS2	Duplication (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign
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 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 199162	NM_021957.4(GYS2):c.1229+11G>A	GYS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1418550	NM_021957.4(GYS2):c.1229+6T>C	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 580790	NM_021957.4(GYS2):c.1229+1G>A	GYS2	Single nucleotide variant (splice donor variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic
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 261463	NM_021957.4(GYS2):c.1169+12A>T	GYS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 569452	NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)	GYS2 (R386*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 307997	NM_021957.4(GYS2):c.1128C>T (p.Asn376=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1395336	NM_021957.4(GYS2):c.1111A>G (p.Lys371Glu)	GYS2 (K371E)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 261462	NM_021957.4(GYS2):c.1087A>G (p.Met363Val)	GYS2 (M363V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 261461	NM_021957.4(GYS2):c.1063-15C>G	GYS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 566739	NM_021957.4(GYS2):c.1062+1G>T	GYS2	Single nucleotide variant (splice donor variant)	GYS2-related condition +1 more	GLikely pathogenic
Select item 16052	NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)	GYS2 (A339P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 307998	NM_021957.4(GYS2):c.948C>T (p.Leu316=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 308000	NM_021957.4(GYS2):c.942-7del	GYS2	Deletion (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 308001	NM_021957.4(GYS2):c.942-12G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 261473	NM_021957.4(GYS2):c.942-17G>A	GYS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 16050	NM_021957.4(GYS2):c.941+1G>C	GYS2	Single nucleotide variant (splice donor variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 78954	NM_021957.4(GYS2):c.925C>T (p.Arg309Ter)	GYS2 (R309*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 2724569	NM_021957.4(GYS2):c.840C>T (p.Asn280=)	GYS2	Single nucleotide variant (synonymous variant)	GYS2-related condition +1 more	GLikely benign
Select item 382361	NM_021957.4(GYS2):c.831T>C (p.Val277=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +2 more	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 1036478	NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)	GYS2 (C251W)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 534625	NM_021957.4(GYS2):c.750T>C (p.His250=)	GYS2	Single nucleotide variant (synonymous variant)	GYS2-related condition +1 more	GLikely benign
Select item 16049	NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	GYS2 (R246*)	Single nucleotide variant (nonsense)	GYS2-related condition +4 more	GPathogenic/Likely pathogenic
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 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 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 964160	NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)	GYS2 (I218T)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 308004	NM_021957.4(GYS2):c.630G>A (p.Gly210=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 308005	NM_021957.4(GYS2):c.627T>A (p.Leu209=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 720285	NM_021957.4(GYS2):c.615C>T (p.His205=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GBenign/Likely benign
Select item 261471	NM_021957.4(GYS2):c.577G>A (p.Ala193Thr)	GYS2 (A193T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 214530	NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	GYS2 (R192*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 214529	NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	GYS2 (Q183*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 736468	NM_021957.4(GYS2):c.526G>A (p.Val176Ile)	GYS2 (V176I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 308008	NM_021957.4(GYS2):c.525C>T (p.Val175=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
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 2716499	NM_021957.4(GYS2):c.496-11dup	GYS2	Duplication (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GBenign
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

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