"PreventionGenetics, part of Exact Sciences"[submitter] AND "GYS1"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156440	NM_000146.4(FTL):c.163T>C (p.Leu55=)	FTL, GYS1	Single nucleotide variant (synonymous variant)	Neuroferritinopathy +5 more	GBenign
Select item 3054362	NM_002103.5(GYS1):c.*1121C>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GBenign
Select item 329793	NM_002103.5(GYS1):c.*868A>G	LOC130064893, FTL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 329797	NM_002103.5(GYS1):c.*659C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3029216	NM_002103.5(GYS1):c.*367C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related disorder	GLikely benign
Select item 3047279	NM_002103.5(GYS1):c.2064C>A (p.Ile688=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder	GLikely benign
Select item 369281	NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 3031421	NM_002103.5(GYS1):c.1831A>G (p.Met611Val)	GYS1 (M547V +1 more)	Single nucleotide variant (missense variant +1 more)	GYS1-related disorder	GUncertain significance
Select item 511817	NM_002103.5(GYS1):c.1810-6C>T	GYS1	Single nucleotide variant (intron variant)	GYS1-related disorder +2 more	GLikely benign
Select item 859569	NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)	GYS1 (Q521R +1 more)	Single nucleotide variant (missense variant +1 more)	GYS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 329810	NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)	FTL, GYS1 +1 more (E539K +1 more)	Single nucleotide variant (missense variant +1 more)	Neuroferritinopathy +4 more	GConflicting classifications of pathogenicity
Select item 1113158	NM_002103.5(GYS1):c.1512C>T (p.Val504=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder +1 more	GLikely benign
Select item 746772	NM_002103.5(GYS1):c.987C>T (p.Ala329=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder +1 more	GBenign/Likely benign
Select item 1641620	NM_002103.5(GYS1):c.984C>T (p.Ile328=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related disorder +1 more	GLikely benign
Select item 836150	NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)	GYS1 (N222K +1 more)	Single nucleotide variant (missense variant +1 more)	GYS1-related disorder +2 more	GUncertain significance
Select item 2630038	NM_002103.5(GYS1):c.636C>A (p.Tyr212Ter)	GYS1 (Y148* +1 more)	Single nucleotide variant (nonsense +1 more)	GYS1-related disorder	GLikely pathogenic
Select item 1131487	NM_002103.5(GYS1):c.547T>C (p.Leu183=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GLikely benign
Select item 715262	NM_002103.5(GYS1):c.492+8C>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GLikely benign
Select item 1010584	NM_002103.5(GYS1):c.438C>T (p.Arg146=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	GYS1-related disorder +1 more	GLikely benign
Select item 2140358	NM_002103.5(GYS1):c.432C>T (p.Tyr144=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GLikely benign
Select item 949878	NM_002103.5(GYS1):c.300+3G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1982248	NM_002103.5(GYS1):c.297C>T (p.Cys99=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 514449	NM_002103.5(GYS1):c.234A>G (p.Glu78=)	GYS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 513948	NM_002103.5(GYS1):c.207G>A (p.Thr69=)	GYS1	Single nucleotide variant (synonymous variant)	GYS1-related disorder +2 more	GBenign/Likely benign

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Items: 24