ClinVar for Gene (Select 2992) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3856430	NM_004130.4(GYG1):c.457G>C (p.Ala153Pro)	GYG1 (A153P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3779717	NM_004130.4(GYG1):c.164_165del (p.Val54_Phe55insTer)	GYG1	Deletion (nonsense)	Glycogen storage disease XV +1 more	GLikely pathogenic
Select item 3763958	NM_004130.4(GYG1):c.438C>A (p.Tyr146Ter)	GYG1 (Y146*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 3763831	NM_004130.4(GYG1):c.482-16T>C	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 3763669	NM_004130.4(GYG1):c.318+17G>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 3763584	NM_004130.4(GYG1):c.319-2_319-1insC	GYG1	Insertion (splice acceptor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 3762467	NM_004130.4(GYG1):c.7+10C>T	LOC129937737, GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 3761688	NM_004130.4(GYG1):c.318+19G>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 3761155	NM_004130.4(GYG1):c.915T>C (p.Leu305=)	GYG1 (L215S)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3760791	NM_004130.4(GYG1):c.8-6A>G	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3760518	NM_004130.4(GYG1):c.768C>T (p.Asn256=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3760238	NM_004130.4(GYG1):c.482-8del	GYG1	Deletion (intron variant)	Glycogen storage disease XV +1 more	GBenign
Select item 3759654	NM_004130.4(GYG1):c.828+8C>G	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3758926	NM_004130.4(GYG1):c.144-16G>T	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 3758767	NM_004130.4(GYG1):c.132A>G (p.Ser44=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 3756567	NM_004130.4(GYG1):c.36C>T (p.Asn12=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3755171	NM_004130.4(GYG1):c.144-17_144-13del	GYG1	Deletion (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3754301	NM_004130.4(GYG1):c.773dup (p.Leu258fs)	GYG1 (L258fs)	Duplication (frameshift variant +1 more)	Glycogen storage disease XV +1 more	GPathogenic
Select item 3752645	NM_004130.4(GYG1):c.8-4T>A	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3752489	NM_004130.4(GYG1):c.481+16C>T	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3750145	NM_004130.4(GYG1):c.513T>C (p.Phe171=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3748956	NM_004130.4(GYG1):c.723T>C (p.Thr241=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3748765	NM_004130.4(GYG1):c.378A>C (p.Pro126=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3748084	NM_004130.4(GYG1):c.579T>C (p.Ser193=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 3588673	NM_004130.4(GYG1):c.671A>G (p.Tyr224Cys)	GYG1 (Y224C)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 3523486	NM_004130.4(GYG1):c.536T>C (p.Ile179Thr)	GYG1 (I179T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3523485	NM_004130.4(GYG1):c.1007A>G (p.Asp336Gly)	GYG1 (I246V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3523484	NM_004130.4(GYG1):c.986A>C (p.Gln329Pro)	GYG1 (Q312P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3523483	NM_004130.4(GYG1):c.743T>C (p.Leu248Pro)	GYG1 (L248P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3523482	NM_004130.4(GYG1):c.149T>C (p.Val50Ala)	GYG1 (V50A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3523481	NM_004130.4(GYG1):c.140T>C (p.Met47Thr)	GYG1 (M47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3523480	NM_004130.4(GYG1):c.394T>C (p.Phe132Leu)	GYG1 (F132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3523479	NM_004130.4(GYG1):c.799G>A (p.Val267Ile)	GYG1 (V267I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3523478	NM_004130.4(GYG1):c.91A>G (p.Thr31Ala)	GYG1 (T31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391828	GRCh37/hg19 3q24-25.1(chr3:146504503-151662391)x1	P2RY12, P2RY13 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 3379501	NM_004130.4(GYG1):c.995A>G (p.Tyr332Cys)	GYG1 (I242V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283201	NM_004130.4(GYG1):c.670T>A (p.Tyr224Asn)	GYG1 (Y224N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251193	NM_004130.4(GYG1):c.14C>T (p.Ala5Val)	GYG1 (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246935	NC_000003.11:g.(?_148709428)_(148709454_?)del	GYG1	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3103362	NM_004130.4(GYG1):c.898A>G (p.Ile300Val)	GYG1 (I283V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3103361	NM_004130.4(GYG1):c.698G>T (p.Ser233Ile)	GYG1 (S233I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069020	NM_004130.4(GYG1):c.880-2A>G	GYG1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3031720	NM_004130.4(GYG1):c.528A>C (p.Thr176=)	GYG1	Single nucleotide variant (synonymous variant)	GYG1-related disorder	GLikely benign
Select item 3029410	NM_004130.4(GYG1):c.482-8dup	GYG1	Duplication (intron variant)	Glycogen storage disease XV +1 more	GBenign
Select item 2953065	NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)	GYG1 (Q164*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2952529	NM_004130.4(GYG1):c.240G>A (p.Leu80=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2952434	NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)	GYG1 (L74*)	Single nucleotide variant (nonsense)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2950674	NM_004130.4(GYG1):c.234A>G (p.Pro78=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2950028	NM_004130.4(GYG1):c.880-17T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2949894	NM_004130.4(GYG1):c.93dup (p.Thr32fs)	GYG1 (T32fs)	Duplication (frameshift variant)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2940837	NM_004130.4(GYG1):c.144-16G>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2940275	NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)	GYG1 (S272P)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2938241	NM_004130.4(GYG1):c.201C>A (p.Gly67=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2936110	NM_004130.4(GYG1):c.105G>A (p.Leu35=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2935601	NM_004130.4(GYG1):c.482-1G>C	GYG1	Single nucleotide variant (splice acceptor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 2935204	NM_004130.4(GYG1):c.555T>C (p.Phe185=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2935143	NM_004130.4(GYG1):c.829-5T>C	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2934233	NM_004130.4(GYG1):c.705C>T (p.Ala235=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2933611	NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)	GYG1 (Y197C)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2933376	NM_004130.4(GYG1):c.609-15dup	GYG1	Duplication (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2931161	NM_004130.4(GYG1):c.144-11T>G	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2929759	NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)	GYG1 (W128*)	Single nucleotide variant (nonsense)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2927986	NM_004130.4(GYG1):c.657A>G (p.Pro219=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2927980	NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)	GYG1 (Y282*)	Insertion (nonsense +1 more)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2926801	NM_004130.4(GYG1):c.108C>T (p.Val36=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2926234	NM_004130.4(GYG1):c.765C>T (p.Thr255=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2926005	NM_004130.4(GYG1):c.26dup (p.Thr10fs)	GYG1 (T10fs)	Duplication (frameshift variant)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2924388	NM_004130.4(GYG1):c.25C>T (p.Leu9=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2923859	NM_004130.4(GYG1):c.738C>T (p.Leu246=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2685093	GRCh37/hg19 3q24-25.1(chr3:148688674-148940860)x1	CP, GYG1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2682846	NM_004130.4(GYG1):c.977A>G (p.Glu326Gly)	GYG1 (E309G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671595	Single allele	SOX2-OT, SPSB4 +286 more	Duplication	not provided	GPathogenic
Select item 2654212	NM_004130.4(GYG1):c.882A>G (p.Glu294=)	GYG1 (K204R)	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 2 +2 more	GLikely benign
Select item 2637494	NM_004130.4(GYG1):c.7+2T>C	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 2623978	NM_004130.4(GYG1):c.756C>G (p.Ile252Met)	GYG1 (I252M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597936	NM_004130.4(GYG1):c.895G>A (p.Ala299Thr)	GYG1 (A282T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2572318	NM_004130.4(GYG1):c.545A>G (p.His182Arg)	GYG1 (H182R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560203	NM_004130.4(GYG1):c.754A>T (p.Ile252Phe)	GYG1 (I252F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491726	NM_004130.4(GYG1):c.539G>C (p.Arg180Thr)	GYG1 (R180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454940	NM_004130.4(GYG1):c.931A>G (p.Met311Val)	GYG1 (M311V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428619	NM_004130.4(GYG1):c.674A>G (p.Asp225Gly)	GYG1 (D225G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2333841	NM_004130.4(GYG1):c.668C>A (p.Thr223Asn)	GYG1 (T223N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300257	NM_004130.4(GYG1):c.264C>A (p.His88Gln)	GYG1 (H88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295440	NM_004130.4(GYG1):c.437A>G (p.Tyr146Cys)	GYG1 (Y146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288735	NM_004130.4(GYG1):c.209C>T (p.Ala70Val)	GYG1 (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285873	NM_004130.4(GYG1):c.958G>A (p.Glu320Lys)	GYG1 (E303K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225869	NM_004130.4(GYG1):c.256A>G (p.Lys86Glu)	GYG1 (K86E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200336	NM_004130.4(GYG1):c.769G>A (p.Val257Ile)	GYG1 (V257I)	Single nucleotide variant (intron variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2197883	NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)	GYG1 (D346Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2196052	NM_004130.4(GYG1):c.183A>G (p.Val61=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2195478	NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)	GYG1 (I111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2186267	NM_004130.4(GYG1):c.429T>C (p.Val143=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2183486	NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)	GYG1 (E294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 2172787	NM_004130.4(GYG1):c.672T>C (p.Tyr224=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2172764	NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)	GYG1 (G161D)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2169617	NM_004130.4(GYG1):c.7+17C>G	GYG1, LOC129937737	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2163192	NM_004130.4(GYG1):c.597G>A (p.Pro199=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2162754	NM_004130.4(GYG1):c.916G>T (p.Gly306Trp)	GYG1 (L215F +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2159308	NM_004130.4(GYG1):c.375C>T (p.Asp125=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign

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