"Genome-Nilou Lab"[submitter] AND "GAA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178711	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 178712	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 499674	NM_000152.5(GAA):c.17C>T (p.Pro6Leu)	GAA (P6L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598195	NM_000152.5(GAA):c.18G>A (p.Pro6=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 593230	NM_000152.5(GAA):c.18G>C (p.Pro6=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 255362	NM_000152.5(GAA):c.32G>A (p.Arg11Gln)	GAA (R11Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 526554	NM_000152.5(GAA):c.36C>T (p.Leu12=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 596014	NM_000152.5(GAA):c.67A>G (p.Thr23Ala)	GAA (T23A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 290440	NM_000152.5(GAA):c.70G>A (p.Ala24Thr)	GAA (A24T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 593243	NM_000152.5(GAA):c.76C>T (p.Leu26Phe)	GAA (L26F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 579061	NM_000152.5(GAA):c.109C>G (p.Leu37Val)	GAA (L37V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 325775	NM_000152.5(GAA):c.197G>A (p.Arg66Gln)	GAA (R66Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 500671	NM_000152.5(GAA):c.212A>G (p.His71Arg)	GAA (H71R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 526549	NM_000152.5(GAA):c.216C>T (p.Pro72=)	GAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 968345	NM_000152.5(GAA):c.217G>A (p.Gly73Ser)	GAA (G73S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 290327	NM_000152.5(GAA):c.247G>A (p.Asp83Asn)	GAA (D83N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 573784	NM_000152.5(GAA):c.250G>A (p.Val84Ile)	GAA (V84I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 325776	NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	GAA (P86R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 1022970	NM_000152.5(GAA):c.261C>G (p.Asn87Lys)	GAA (N87K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456412	NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	GAA (R89C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 283219	NM_000152.5(GAA):c.266G>A (p.Arg89His)	GAA (R89H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 4020	NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	GAA (D91N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign; other
Select item 456417	NM_000152.5(GAA):c.277G>A (p.Ala93Thr)	GAA (A93T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 568474	NM_000152.5(GAA):c.286A>G (p.Lys96Glu)	GAA (K96E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 498124	NM_000152.5(GAA):c.297C>T (p.Thr99=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 892320	NM_000152.5(GAA):c.310G>C (p.Glu104Gln)	GAA (E104Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 498906	NM_000152.5(GAA):c.310G>A (p.Glu104Lys)	GAA (E104K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 286481	NM_000152.5(GAA):c.317G>A (p.Arg106His)	GAA (R106H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 195019	NM_000152.5(GAA):c.318C>T (p.Arg106=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 284483	NM_000152.5(GAA):c.362A>G (p.Gln121Arg)	GAA (Q121R)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 595995	NM_000152.5(GAA):c.370C>G (p.Gln124Glu)	GAA (Q124E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 325777	NM_000152.5(GAA):c.395G>C (p.Ser132Thr)	GAA (S132T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 290299	NM_000152.5(GAA):c.412C>G (p.Leu138Val)	GAA (L138V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 845000	NM_000152.5(GAA):c.420C>A (p.Asn140Lys)	GAA (N140K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285476	NM_000152.5(GAA):c.444C>T (p.Tyr148=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 129121	NM_000152.5(GAA):c.447G>A (p.Thr149=)	GAA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 551306	NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)	GAA	Deletion (inframe_deletion)	Glycogen storage disease, type II	GUncertain significance
Select item 842132	NM_000152.5(GAA):c.502C>T (p.Arg168Trp)	GAA (R168W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 325778	NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	GAA (R168Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 280956	NM_000152.5(GAA):c.510C>T (p.Asp170=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 325779	NM_000152.5(GAA):c.511G>A (p.Val171Met)	GAA (V171M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 325780	NM_000152.5(GAA):c.531C>T (p.Asn177=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 554969	NM_000152.5(GAA):c.533G>A (p.Arg178His)	GAA (R178H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1199276	NM_000152.5(GAA):c.545C>T (p.Thr182Met)	GAA (T182M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285456	NM_000152.5(GAA):c.546+3G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 557811	NM_000152.5(GAA):c.546+5G>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 284357	NM_000152.5(GAA):c.546+6C>T	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 497167	NM_000152.5(GAA):c.546+8G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 255363	NM_000152.5(GAA):c.547-39T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +2 more	GBenign
Select item 92485	NM_000152.5(GAA):c.547-4C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 1052736	NM_000152.5(GAA):c.574G>A (p.Glu192Lys)	GAA (E192K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286219	NM_000152.5(GAA):c.576G>C (p.Glu192Asp)	GAA (E192D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92486	NM_000152.5(GAA):c.596A>G (p.His199Arg)	GAA (H199R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 255364	NM_000152.5(GAA):c.600C>T (p.Val200=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 386960	NM_000152.5(GAA):c.607C>T (p.Arg203Trp)	GAA (R203W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 287137	NM_000152.5(GAA):c.614C>T (p.Pro205Leu)	GAA (P205L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196223	NM_000152.5(GAA):c.615G>A (p.Pro205=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 890619	NM_000152.5(GAA):c.630C>T (p.Ser210=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 652721	NM_000152.5(GAA):c.631G>A (p.Val211Met)	GAA (V211M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 645053	NM_000152.5(GAA):c.643G>A (p.Glu215Lys)	GAA (E215K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 456426	NM_000152.5(GAA):c.663C>T (p.Ile221=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 288634	NM_000152.5(GAA):c.667C>T (p.Arg223Cys)	GAA (R223C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92488	NM_000152.5(GAA):c.668G>A (p.Arg223His)	GAA (R223H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 286250	NM_000152.5(GAA):c.685C>T (p.Arg229Cys)	GAA (R229C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 456428	NM_000152.5(GAA):c.687C>T (p.Arg229=)	GAA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288402	NM_000152.5(GAA):c.692+9T>C	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255366	NM_000152.5(GAA):c.693-49C>T	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 281097	NM_000152.5(GAA):c.693-4G>T	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288515	NM_000152.5(GAA):c.702G>A (p.Thr234=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 657223	NM_000152.5(GAA):c.704C>T (p.Thr235Met)	GAA (T235M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 282633	NM_000152.5(GAA):c.705G>A (p.Thr235=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 456432	NM_000152.5(GAA):c.711G>A (p.Ala237=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1025310	NM_000152.5(GAA):c.723T>G (p.Phe241Leu)	GAA (F241L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 642648	NM_000152.5(GAA):c.725C>A (p.Ala242Glu)	GAA (A242E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 456434	NM_000152.5(GAA):c.725C>T (p.Ala242Val)	GAA (A242V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 285366	NM_000152.5(GAA):c.726G>A (p.Ala242=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 582864	NM_000152.5(GAA):c.745T>C (p.Ser249Pro)	GAA (S249P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1157484	NM_000152.5(GAA):c.750C>T (p.Thr250=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 325781	NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	GAA (S251L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 325782	NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	GAA (S254L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 498281	NM_000152.5(GAA):c.794G>A (p.Ser265Asn)	GAA (S265N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388598	NM_000152.5(GAA):c.834G>A (p.Leu278=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 864108	NM_000152.5(GAA):c.842G>A (p.Arg281Gln)	GAA (R281Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 456440	NM_000152.5(GAA):c.851C>G (p.Ala284Gly)	GAA (A284G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 188477	NM_000152.5(GAA):c.852G>A (p.Ala284=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 281052	NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	GAA (P285S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 283766	NM_000152.5(GAA):c.858+4C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 129122	NM_000152.5(GAA):c.858+8G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +2 more	GBenign/Likely benign
Select item 325783	NM_000152.5(GAA):c.858+10C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 167111	NM_000152.5(GAA):c.858+30T>C	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 284775	NM_000152.5(GAA):c.861C>T (p.Pro287=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 285344	NM_000152.5(GAA):c.866C>T (p.Ala289Val)	GAA (A289V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 498117	NM_000152.5(GAA):c.868A>G (p.Asn290Asp)	GAA (N290D)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 595037	NM_000152.5(GAA):c.900G>A (p.Ala300=)	GAA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500089	NM_000152.5(GAA):c.906G>A (p.Glu302=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 285649	NM_000152.5(GAA):c.910G>A (p.Gly304Ser)	GAA (G304S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 288431	NM_000152.5(GAA):c.913G>A (p.Gly305Arg)	GAA (G305R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity

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