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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307985	NM_021957.4(GYS2):c.*152C>T	GYS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 261460	NM_021957.4(GYS2):c.*6A>T	GYS2	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 137530	NM_021957.4(GYS2):c.2067C>T (p.His689=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 137529	NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)	GYS2 (F685S)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 516107	NM_021957.4(GYS2):c.2007T>C (p.Asp669=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214526	NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)	GYS2 (D669N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 137528	NM_021957.4(GYS2):c.1965G>C (p.Gln655His)	GYS2 (Q655H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 386916	NM_021957.4(GYS2):c.1899A>G (p.Gly633=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1288794	NM_021957.4(GYS2):c.1890+234G>A	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287012	NM_021957.4(GYS2):c.1890+179G>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261469	NM_021957.4(GYS2):c.1890+25del	GYS2	Deletion (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 307988	NM_021957.4(GYS2):c.1890+12A>G	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 137527	NM_021957.4(GYS2):c.1872A>G (p.Glu624=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1240574	NM_021957.4(GYS2):c.1809+101T>A	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271675	NM_021957.4(GYS2):c.1809+100A>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379079	NM_021957.4(GYS2):c.1791T>C (p.Asp597=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214535	NM_021957.4(GYS2):c.1789G>A (p.Asp597Asn)	GYS2 (D597N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390072	NM_021957.4(GYS2):c.1716T>C (p.Tyr572=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 384249	NM_021957.4(GYS2):c.1710T>C (p.Phe570=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 261468	NM_021957.4(GYS2):c.1701G>A (p.Leu567=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 214525	NM_021957.4(GYS2):c.1657G>A (p.Val553Ile)	GYS2 (V553I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1300368	NM_021957.4(GYS2):c.1646-130del	GYS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1321683	NM_021957.4(GYS2):c.1646-146A>G	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512561	NM_021957.4(GYS2):c.1645+7G>T	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +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 137526	NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)	GYS2 (T546A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 387912	NM_021957.4(GYS2):c.1554A>G (p.Glu518=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1179255	NM_021957.4(GYS2):c.1550-59T>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291035	NM_021957.4(GYS2):c.1550-99T>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258991	NM_021957.4(GYS2):c.1549+162A>G	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388255	NM_021957.4(GYS2):c.1549+19G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GBenign/Likely benign
Select item 418240	NM_021957.4(GYS2):c.1522T>G (p.Tyr508Asp)	GYS2 (Y508D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 418239	NM_021957.4(GYS2):c.1475A>T (p.Asp492Val)	GYS2 (D492V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 137525	NM_021957.4(GYS2):c.1464A>G (p.Leu488=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 16051	NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	GYS2 (P479Q)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 214532	NM_021957.4(GYS2):c.1427T>A (p.Ile476Asn)	GYS2 (I476N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 261467	NM_021957.4(GYS2):c.1423-21A>G	GYS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1291345	NM_021957.4(GYS2):c.1423-87G>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291924	NM_021957.4(GYS2):c.1423-104A>G	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326784	NM_021957.4(GYS2):c.1423-191C>T	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243500	NM_021957.4(GYS2):c.1422+215C>T	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291343	NM_021957.4(GYS2):c.1422+203A>C	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291342	NM_021957.4(GYS2):c.1422+125G>T	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261466	NM_021957.4(GYS2):c.1422+23C>G	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 512143	NM_021957.4(GYS2):c.1404C>T (p.Asn468=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 390552	NM_021957.4(GYS2):c.1359C>T (p.Thr453=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514384	NM_021957.4(GYS2):c.1353C>T (p.Asp451=)	LOC126861480, GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1291016	NM_021957.4(GYS2):c.1309-134G>A	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235869	NM_021957.4(GYS2):c.1309-138C>G	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263078	NM_021957.4(GYS2):c.1309-189C>T	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214531	NM_021957.4(GYS2):c.1277C>T (p.Thr426Ile)	GYS2, LOC126861480 (T426I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261465	NM_021957.4(GYS2):c.1251C>T (p.Asn417=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137524	NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu)	GYS2 (D415E)	Single nucleotide variant (missense variant)	not specified +2 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 261464	NM_021957.4(GYS2):c.1229+40T>C	GYS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 199162	NM_021957.4(GYS2):c.1229+11G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign
Select item 1291015	NM_021957.4(GYS2):c.1170-99_1170-85del	GYS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1182879	NM_021957.4(GYS2):c.1169+170G>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261463	NM_021957.4(GYS2):c.1169+12A>T	GYS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1219642	NM_021957.4(GYS2):c.1157G>A (p.Arg386Gln)	GYS2 (R386Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307997	NM_021957.4(GYS2):c.1128C>T (p.Asn376=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
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 667422	NM_021957.4(GYS2):c.1081del (p.Thr361fs)	GYS2 (T361fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1300981	NM_021957.4(GYS2):c.1063-103C>A	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183041	NM_021957.4(GYS2):c.1063-222T>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246153	NM_021957.4(GYS2):c.1062+215_1062+219del	GYS2	Deletion (intron variant)	not provided	GBenign
Select item 1262213	NM_021957.4(GYS2):c.1062+51T>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 214537	NM_021957.4(GYS2):c.942-42_974del	GYS2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 308000	NM_021957.4(GYS2):c.942-7del	GYS2	Deletion (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 261473	NM_021957.4(GYS2):c.942-17G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign
Select item 382979	NM_021957.4(GYS2):c.942-18G>T	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290497	NM_021957.4(GYS2):c.942-83T>G	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275979	NM_021957.4(GYS2):c.941+64A>G	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 +1 more	GConflicting classifications of pathogenicity
Select item 382361	NM_021957.4(GYS2):c.831T>C (p.Val277=)	GYS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1236073	NM_021957.4(GYS2):c.824-221C>A	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265728	NM_021957.4(GYS2):c.823+166G>A	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16049	NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	GYS2 (R246*)	Single nucleotide variant (nonsense)	Glycogen storage disease +3 more	GPathogenic/Likely pathogenic
Select item 1309295	NM_021957.4(GYS2):c.734A>G (p.Glu245Gly)	GYS2 (E245G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215220	NM_021957.4(GYS2):c.679-71G>A	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 308004	NM_021957.4(GYS2):c.630G>A (p.Gly210=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +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 261471	NM_021957.4(GYS2):c.577G>A (p.Ala193Thr)	GYS2 (A193T)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign
Select item 214530	NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	GYS2 (R192*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 214524	NM_021957.4(GYS2):c.556A>T (p.Ile186Phe)	GYS2 (I186F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 214529	NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	GYS2 (Q183*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GPathogenic
Select item 3368166	NM_021957.4(GYS2):c.544T>C (p.Trp182Arg)	GYS2 (W182R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380333	NM_021957.4(GYS2):c.520T>C (p.Tyr174His)	GYS2 (Y174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1249534	NM_021957.4(GYS2):c.496-54C>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269235	NM_021957.4(GYS2):c.496-55G>T	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214528	NM_021957.4(GYS2):c.495+3A>G	GYS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 137523	NM_021957.4(GYS2):c.421G>A (p.Gly141Ser)	GYS2 (G141S)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 214523	NM_021957.4(GYS2):c.395G>A (p.Gly132Asp)	GYS2 (G132D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 261470	NM_021957.4(GYS2):c.304-17T>C	GYS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1216924	NM_021957.4(GYS2):c.304-74C>A	GYS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253139	NM_021957.4(GYS2):c.304-105T>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243797	NM_021957.4(GYS2):c.303+155A>C	GYS2	Single nucleotide variant (intron variant)	not provided	GBenign

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