"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GAA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 325774	NM_000152.5(GAA):c.131G>T (p.Gly44Val)	GAA (G44V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 3380522	NM_000152.5(GAA):c.202G>T (p.Ala68Ser)	GAA (A68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3380523	NM_000152.5(GAA):c.220C>T (p.Arg74Cys)	GAA (R74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 971945	NM_000152.5(GAA):c.316C>T (p.Arg106Cys)	GAA (R106C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
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 1043255	NM_000152.5(GAA):c.446C>T (p.Thr149Met)	GAA (T149M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 972389	NM_000152.5(GAA):c.488A>T (p.Asp163Val)	GAA (D163V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 4033	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA (E176fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 982296	NM_000152.5(GAA):c.546+2_546+5del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 281750	NM_000152.5(GAA):c.546+18G>A	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 188809	NM_000152.5(GAA):c.569G>A (p.Arg190His)	GAA (R190H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GPathogenic/Likely pathogenic
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 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 290223	NM_000152.5(GAA):c.664G>A (p.Val222Met)	GAA (V222M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 196222	NM_000152.5(GAA):c.688G>A (p.Val230Met)	GAA (V230M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 506761	NM_000152.5(GAA):c.692+17G>C	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GBenign/Likely benign
Select item 2577230	NM_000152.5(GAA):c.710C>A (p.Ala237Glu)	GAA (A237E)	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 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 2683630	NM_000152.5(GAA):c.742del (p.Leu248fs)	GAA (L248fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 960212	NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)	GAA (Y256C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693710	NM_000152.5(GAA):c.795T>A (p.Ser265Arg)	GAA (S265R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 283894	NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	GAA (R281W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 92489	NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	GAA	Insertion (intron variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
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 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 288431	NM_000152.5(GAA):c.913G>A (p.Gly305Arg)	GAA (G305R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 188478	NM_000152.5(GAA):c.915G>A (p.Gly305=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 92490	NM_000152.5(GAA):c.921A>T (p.Ala307=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92491	NM_000152.5(GAA):c.955+12G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 555998	NM_000152.5(GAA):c.1048G>A (p.Val350Met)	GAA (V350M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 1176696	NM_000152.5(GAA):c.1069G>A (p.Val357Ile)	GAA (V357I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92460	NM_000152.5(GAA):c.1075+13C>T	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 572725	NM_000152.5(GAA):c.1124G>A (p.Arg375His)	GAA (R375H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 92461	NM_000152.5(GAA):c.1203G>A (p.Gln401=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 2155070	NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)	GAA (R437S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456374	NM_000152.5(GAA):c.1310G>A (p.Arg437His)	GAA (R437H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 281299	NM_000152.5(GAA):c.1320G>T (p.Met440Ile)	GAA (M440I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 92462	NM_000152.5(GAA):c.1327-18A>G	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 714463	NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)	GAA (S449L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 92463	NM_000152.5(GAA):c.1374C>T (p.Tyr458=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GBenign
Select item 325788	NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)	GAA (R463Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2675790	NM_000152.5(GAA):c.1396dup (p.Val466fs)	GAA (V466fs)	Duplication (frameshift variant)	Glycogen storage disease, type II +1 more	GPathogenic
Select item 92464	NM_000152.5(GAA):c.1438-19G>C	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 189007	NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	GAA (W481R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 439746	NM_000152.5(GAA):c.1504A>G (p.Met502Val)	GAA (M502V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 429690	NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)	GAA (F512L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 960182	NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)	GAA (D513N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 92466	NM_000152.5(GAA):c.1581G>A (p.Arg527=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 999403	NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)	GAA (G532C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287414	NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)	GAA (N536S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450358	NM_000152.5(GAA):c.1630G>A (p.Val544Met)	GAA (V544M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 92468	NM_000152.5(GAA):c.1754+12G>A	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 380511	NM_000152.5(GAA):c.1755-18T>C	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 282242	NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	GAA (A610T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 286469	NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	GAA (T614M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 167113	NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	GAA (T614K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 422879	NM_000152.5(GAA):c.1888+10_1888+11insC	GAA	Insertion (intron variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 255357	NM_000152.5(GAA):c.1888+21G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1348299	NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)	GAA (N635D)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 255358	NM_000152.5(GAA):c.1920T>G (p.Pro640=)	GAA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4029	NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	GAA (D645E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 558604	NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	GAA (R660C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92470	NM_000152.5(GAA):c.2040+20A>G	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1163110	NM_000152.5(GAA):c.2057G>A (p.Ser686Asn)	GAA (S686N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4030	NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	GAA (E689K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign; other
Select item 456391	NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)	GAA (T711R)	Indel (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 92473	NM_000152.5(GAA):c.2133A>G (p.Thr711=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 281232	NM_000152.5(GAA):c.2152G>A (p.Val718Ile)	GAA (V718I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 286435	NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)	GAA (A719S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194458	NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	GAA (A719E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598200	NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)	GAA (T722S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 558779	NM_000152.5(GAA):c.2190-29G>A	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265160	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	GAA (W746C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 574387	NM_000152.5(GAA):c.2331G>A (p.Thr777=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 92474	NM_000152.5(GAA):c.2331+20G>A	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255359	NM_000152.5(GAA):c.2331+24T>C	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 286317	NM_000152.5(GAA):c.2332-10C>G	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456400	NM_000152.5(GAA):c.2332-1G>C	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II +1 more	GLikely pathogenic
Select item 92476	NM_000152.5(GAA):c.2338G>A (p.Val780Ile)	GAA (V780I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 167115	NM_000152.5(GAA):c.2400C>T (p.Ser800=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92477	NM_000152.5(GAA):c.2446G>A (p.Val816Ile)	GAA (V816I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 456403	NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)	GAA (R819Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 92478	NM_000152.5(GAA):c.2481+16G>A	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92481	NM_000152.5(GAA):c.2553G>A (p.Gly851=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 4034	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	GAA (R854*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 281751	NM_000152.5(GAA):c.2580C>T (p.Asp860=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 555277	NM_000152.5(GAA):c.2647-20T>G	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 526526	NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)	GAA (G920S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92482	NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)	GAA (T927I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database

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