Related gene-specific medical variations for Gene (Select 2998) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3048585	NM_021957.4(GYS2):c.1320G>A (p.Leu440=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	GYS2-related disorder	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 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 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 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 1801419	NM_021957.4(GYS2):c.122-3879_122-3845del	GYS2	Deletion (intron variant)	Schizophrenia	GUncertain significance
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 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 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 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 1323047	NM_021957.4(GYS2):c.1094_1098del (p.Phe365fs)	GYS2 (F365fs)	Deletion (frameshift variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
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 1291016	NM_021957.4(GYS2):c.1309-134G>A	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 1243500	NM_021957.4(GYS2):c.1422+215C>T	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 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 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 884119	NM_021957.4(GYS2):c.1362C>T (p.Asp454=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
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 686518	GRCh37/hg19 12p12.1(chr12:21685107-21774521)x1	GYS2	Copy number loss	not provided	GPathogenic
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 512143	NM_021957.4(GYS2):c.1404C>T (p.Asn468=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 307993	NM_021957.4(GYS2):c.1418T>G (p.Val473Gly)	GYS2, LOC126861480 (V473G)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 261472	NM_021957.4(GYS2):c.789A>G (p.Ala263=)	GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 214531	NM_021957.4(GYS2):c.1277C>T (p.Thr426Ile)	GYS2, LOC126861480 (T426I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37