"Illumina Laboratory Services, Illumina"[submitter] AND "GYS1"[gene] - ClinVar

Search results

Items: 91

	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)	Hereditary hyperferritinemia with congenital cataracts +5 more	GBenign
Select item 329790	NM_002103.5(GYS1):c.1113_1116del	FTL, GYS1	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329791	NM_002103.5(GYS1):c.*1044T>G	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894519	NM_002103.5(GYS1):c.*969C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
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
Select item 329793	NM_002103.5(GYS1):c.*868A>G	FTL, GYS1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition +3 more	GConflicting classifications of pathogenicity
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 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 329796	NM_002103.5(GYS1):c.*725C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +3 more	GBenign/Likely benign
Select item 329797	NM_002103.5(GYS1):c.*659C>T	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	FTL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 369275	NM_002103.5(GYS1):c.*611C>T	FTL, GYS1	Single nucleotide variant (non-coding transcript variant +1 more)	Neuroferritinopathy +2 more	GLikely benign
Select item 329798	NM_002103.5(GYS1):c.*472G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893097	NM_002103.5(GYS1):c.*465G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329799	NM_002103.5(GYS1):c.*450G>A	FTL, GYS1	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 369277	NM_002103.5(GYS1):c.*421A>G	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GLikely benign
Select item 893098	NM_002103.5(GYS1):c.*413G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893099	NM_002103.5(GYS1):c.*395C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329800	NM_002103.5(GYS1):c.*370A>C	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
Select item 893305	NM_002103.5(GYS1):c.*357G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329801	NM_002103.5(GYS1):c.*301G>A	FTL, GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 893306	NM_002103.5(GYS1):c.*256G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 893307	NM_002103.5(GYS1):c.*229C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893308	NM_002103.5(GYS1):c.*143C>G	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893309	NM_002103.5(GYS1):c.*110G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329802	NM_002103.5(GYS1):c.*78C>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894148	NM_002103.5(GYS1):c.*59A>T	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329803	NM_002103.5(GYS1):c.*26G>A	GYS1	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329804	NM_002103.5(GYS1):c.2207G>A (p.Arg736His)	FTL, GYS1 (R736H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +2 more	GConflicting classifications of pathogenicity
Select item 894149	NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)	GYS1 (K643T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 369281	NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	GYS1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 894150	NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)	GYS1 (E679K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 329805	NM_002103.5(GYS1):c.2013C>T (p.Asp671=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GConflicting classifications of pathogenicity
Select item 329806	NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)	GYS1 (R664W +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329807	NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu)	GYS1 (P654L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 329808	NM_002103.5(GYS1):c.1926G>A (p.Val642=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Neuroferritinopathy +3 more	GBenign/Likely benign
Select item 894555	NM_002103.5(GYS1):c.1872G>A (p.Glu624=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329809	NM_002103.5(GYS1):c.1848C>T (p.Ala616=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GConflicting classifications of pathogenicity
Select item 894556	NM_002103.5(GYS1):c.1810-14C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 369285	NM_002103.5(GYS1):c.1749C>A (p.Ile583=)	FTL, GYS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperferritinemia with congenital cataracts +3 more	GBenign/Likely benign
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)	GYS1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 329811	NM_002103.5(GYS1):c.1549+7G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
Select item 893129	NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)	GYS1 (S405R +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893130	NM_002103.5(GYS1):c.1377C>T (p.Thr459=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893131	NM_002103.5(GYS1):c.1338C>T (p.His446=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 676335	NM_002103.5(GYS1):c.1332C>T (p.Cys444=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 329812	NM_002103.5(GYS1):c.1308+5G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329813	NM_002103.5(GYS1):c.1305G>A (p.Thr435=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 893132	NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)	GYS1 (T371A +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893133	NM_002103.5(GYS1):c.1278T>G (p.Thr426=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329814	NM_002103.5(GYS1):c.1246A>G (p.Met416Val)	GYS1 (M416V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign/Likely benign
Select item 808611	NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)	GYS1 (D351N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +2 more	GUncertain significance
Select item 893347	NM_002103.5(GYS1):c.1242C>T (p.Pro414=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 893348	NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)	GYS1 (T395M +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329815	NM_002103.5(GYS1):c.1170-13C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893349	NM_002103.5(GYS1):c.1169+13C>T	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 893350	NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)	GYS1 (R322C +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329816	NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp)	GYS1 (G382D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 585159	NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)	GYS1 (N374S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 894178	NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)	GYS1 (Q296K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 329817	NM_002103.5(GYS1):c.1077G>A (p.Glu359=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329818	NM_002103.5(GYS1):c.1026C>T (p.Phe342=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
Select item 329819	NM_002103.5(GYS1):c.1021G>A (p.Val341Ile)	GYS1 (V341I +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894179	NM_002103.5(GYS1):c.1020C>T (p.Asp340=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 329820	NM_002103.5(GYS1):c.942-9G>A	GYS1	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 894180	NM_002103.5(GYS1):c.803A>T (p.His268Leu)	GYS1 (H204L +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329821	NM_002103.5(GYS1):c.741G>A (p.Ala247=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 329822	NM_002103.5(GYS1):c.693G>A (p.Lys231=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 835130	NM_002103.5(GYS1):c.652G>A (p.Val218Met)	GYS1 (V218M +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329823	NM_002103.5(GYS1):c.556G>A (p.Val186Ile)	GYS1 (V186I +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
Select item 382413	NM_002103.5(GYS1):c.555C>T (p.Gly185=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 894589	NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)	GYS1 (S105G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 196338	NM_002103.5(GYS1):c.492+9C>T	GYS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 329824	NM_002103.5(GYS1):c.420A>G (p.Gly140=)	GYS1	Single nucleotide variant (non-coding transcript variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
Select item 329825	NM_002103.5(GYS1):c.417C>T (p.Ile139=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 329826	NM_002103.5(GYS1):c.354C>T (p.Asp118=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
Select item 892565	NM_002103.5(GYS1):c.303G>A (p.Val101=)	GYS1	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 329827	NM_002103.5(GYS1):c.300+8G>A	GYS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 329828	NM_002103.5(GYS1):c.300G>A (p.Lys100=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 329829	NM_002103.5(GYS1):c.235C>T (p.Leu79=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 329830	NM_002103.5(GYS1):c.222G>A (p.Arg74=)	GYS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 892566	NM_002103.5(GYS1):c.216C>T (p.Gly72=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 329831	NM_002103.5(GYS1):c.-19C>A	GYS1	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GBenign
Select item 329832	NM_002103.5(GYS1):c.-26C>T	GYS1	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 329833	NM_002103.5(GYS1):c.-125C>T	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
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 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 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 329836	NM_002103.5(GYS1):c.-182T>G	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign
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 329837	NM_002103.4(GYS1):c.-199T>C	GYS1, LOC130064896	Single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GUncertain significance
Select item 369287	NM_002103.4(GYS1):c.-253delG	GYS1, LOC130064896	Deletion	not provided +1 more	GLikely benign

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Items: 91