Related gene-specific medical variations for Gene (Select 2997) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248455	NC_000019.9:g.(?_49484767)_(49486114_?)del	GYS1	Deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 3248454	NC_000019.9:g.(?_49494539)_(49494760_?)del	GYS1	Deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 2751768	NM_002103.5(GYS1):c.1602C>T (p.Phe534=)	LOC119369037, GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2579599	NM_002103.5(GYS1):c.1645+1G>A	GYS1, LOC119369037	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GLikely pathogenic
Select item 2432353	NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)	GYS1 (T371M +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2169543	NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)	GYS1, LOC119369037 (P545L +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 2154637	NM_002103.5(GYS1):c.1645+18T>C	GYS1, LOC119369037	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 2080610	NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser)	GYS1, LOC119369037 (N466S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1978604	NM_002103.5(GYS1):c.1645+12G>A	GYS1, LOC119369037	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1956302	NM_002103.5(GYS1):c.118+3_118+4delinsAG	GYS1, LOC130064895	Indel (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1924917	NM_002103.5(GYS1):c.1550-17C>G	GYS1, LOC119369037	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1560548	NM_002103.5(GYS1):c.1572C>T (p.Ile524=)	GYS1, LOC119369037	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1539406	NM_002103.5(GYS1):c.118+18C>A	GYS1, LOC130064895	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1515349	NM_002103.5(GYS1):c.1594T>A (p.Ser532Thr)	GYS1, LOC119369037 (S468T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1495878	NM_002103.5(GYS1):c.1624A>G (p.Ile542Val)	GYS1, LOC119369037 (I542V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1488639	NM_002103.5(GYS1):c.118+10C>T	GYS1, LOC130064895	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1465542	NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu)	GYS1, LOC119369037 (G523E +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 1390381	NM_002103.5(GYS1):c.117G>C (p.Lys39Asn)	GYS1, LOC130064895 (K39N)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GUncertain significance
Select item 1198249	NM_002103.5(GYS1):c.118+124_118+125insCTGTGACTC	GYS1, LOC130064895	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1141317	NM_002103.5(GYS1):c.1550-10C>T	GYS1, LOC119369037	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GLikely benign
Select item 1026554	NM_002103.5(GYS1):c.1559C>T (p.Thr520Met)	GYS1, LOC119369037 (T456M +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 946451	NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)	GYS1, LOC130064895 (N38K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893381	NM_002103.5(GYS1):c.-195T>A	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893380	NM_002103.5(GYS1):c.-171A>T	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 570876	NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter)	LOC119369037, GYS1 (E539* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 383492	NM_002103.5(GYS1):c.1551T>G (p.Ala517=)	GYS1, LOC119369037	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 329836	NM_002103.5(GYS1):c.-182T>G	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 329835	NM_002103.5(GYS1):c.-172T>C	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329834	NM_002103.5(GYS1):c.-157C>T	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329833	NM_002103.5(GYS1):c.-125C>T	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 329810	NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)	GYS1, LOC119369037 +1 more (E539K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329795	NM_002103.5(GYS1):c.*824del	GYS1, LOC130064893	Deletion (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329794	NM_002103.5(GYS1):c.*841A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign
Select item 329793	NM_002103.5(GYS1):c.*868A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Neuroferritinopathy +2 more	GConflicting classifications of pathogenicity
Select item 329792	NM_002103.5(GYS1):c.*908G>A	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GLikely benign

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Items: 35