C0017921[trait identifier] AND "Baylor Genetics"[submitter] - 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 371622	NM_000152.5(GAA):c.-32-3C>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 2675792	NM_000152.5(GAA):c.84dup (p.His29fs)	GAA (H29fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 426593	NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	GAA (R40*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 2675787	NM_000152.5(GAA):c.133del (p.Ser45fs)	GAA (S45fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 370124	NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	GAA (Q57*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 371302	NM_000152.5(GAA):c.236_246del (p.Pro79fs)	GAA (P79fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 282842	NM_000152.5(GAA):c.258dup (p.Asn87fs)	GAA (N87fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 551592	NM_000152.5(GAA):c.258del (p.Asn87fs)	GAA (N87fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic 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 654482	NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	GAA (C92*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 1073996	NM_000152.5(GAA):c.282del (p.Asp95fs)	GAA (D95fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 92483	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA (C103G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 2675760	NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)	GAA (C108Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1068640	NM_000152.5(GAA):c.340_341insT (p.Lys114fs)	GAA (K114fs)	Insertion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 526523	NM_000152.5(GAA):c.342del (p.Lys114fs)	GAA (K114fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188996	NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	GAA (Q115*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1454364	NM_000152.5(GAA):c.355G>T (p.Gly119Ter)	GAA (G119*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 1369778	NM_000152.5(GAA):c.361C>T (p.Gln121Ter)	GAA (Q121*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 189059	NM_000152.5(GAA):c.365del (p.Met122fs)	GAA (M122fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 2675781	NM_000152.5(GAA):c.371_381del (p.Gln124fs)	GAA (Q124fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 938008	NM_000152.5(GAA):c.378G>A (p.Trp126Ter)	GAA (W126*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic
Select item 552747	NM_000152.5(GAA):c.379_380del (p.Cys127fs)	GAA (C127fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 2675757	NM_000152.5(GAA):c.389del (p.Pro130fs)	GAA (P130fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675758	NM_000152.5(GAA):c.396dup (p.Tyr133fs)	GAA (Y133fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 554096	NM_000152.5(GAA):c.437del (p.Met146fs)	GAA (M146fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 2675784	NM_000152.5(GAA):c.465dup (p.Thr156fs)	GAA (T156fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 596146	NM_000152.5(GAA):c.482_483del (p.Pro161fs)	GAA (P161fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 2675779	NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)	GAA	Deletion (nonsense)	Glycogen storage disease, type II	GLikely pathogenic
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 1322973	NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)	GAA	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 370637	NM_000152.5(GAA):c.546G>T (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 281056	NM_000152.5(GAA):c.546G>C (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280955	NM_000152.5(GAA):c.546G>A (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 3241650	NM_000152.5(GAA):c.546+1G>T	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GPathogenic
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 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 370276	NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	GAA (Y191*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189065	NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	GAA (G219R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189188	NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	GAA (R224W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 664582	NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	GAA (R224Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 553874	NM_000152.5(GAA):c.692+2T>C	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 526532	NM_000152.5(GAA):c.692+5G>T	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 4035	NM_000152.5(GAA):c.710C>T (p.Ala237Val)	GAA (A237V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 972791	NM_000152.5(GAA):c.743T>C (p.Leu248Pro)	GAA (L248P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 188880	NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)	GAA (Y256fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 188806	NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	GAA (E262K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 556117	NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	GAA (P266S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 1895435	NM_000152.5(GAA):c.844G>C (p.Asp282His)	GAA (D282H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
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 225114	NM_000152.5(GAA):c.854C>G (p.Pro285Arg)	GAA (P285R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2675780	NM_000152.5(GAA):c.858+1G>A	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1485821	NM_000152.5(GAA):c.859-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 2675770	NM_000152.5(GAA):c.873_874del (p.Tyr292fs)	GAA (Y292fs)	Microsatellite (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 956209	NM_000152.5(GAA):c.871C>T (p.Leu291Phe)	GAA (L291F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370577	NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	GAA (Y292C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 4036	NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	GAA (G293R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 180144	NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	GAA (L299P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 188797	NM_000152.5(GAA):c.925G>A (p.Gly309Arg)	GAA (G309R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 558700	NM_000152.5(GAA):c.953T>A (p.Met318Lys)	GAA (M318K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 4021	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	GAA (M318T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 3241648	NM_000152.5(GAA):c.955+1del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 431990	NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	GAA (P324L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 550355	NM_000152.5(GAA):c.989G>A (p.Trp330Ter)	GAA (W330*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 843318	NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)	GAA (G334S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
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 188841	NM_000152.5(GAA):c.1051del (p.Val351fs)	GAA (V351fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 284093	NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)	GAA (L355P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 2675762	NM_000152.5(GAA):c.1075+1G>T	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675773	NM_000152.5(GAA):c.1075+2T>C	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 370278	NM_000152.5(GAA):c.1076-22T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370173	NM_000152.5(GAA):c.1076-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 403712	NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	GAA (P361L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 555820	NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	GAA (W367R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 579993	NM_000152.5(GAA):c.1114C>T (p.His372Tyr)	GAA (H372Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 370483	NM_000152.5(GAA):c.1115A>T (p.His372Leu)	GAA (H372L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675753	NM_000152.5(GAA):c.1117del (p.Leu373fs)	GAA (L373fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
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 283230	NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	GAA (R375L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 189041	NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	GAA (W376fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370263	NM_000152.5(GAA):c.1143del (p.Ala382fs)	GAA (A382fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 371457	NM_000152.5(GAA):c.1193del (p.Leu398fs)	GAA (L398fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 2675774	NM_000152.5(GAA):c.1194+2T>G	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 198393	NM_000152.5(GAA):c.1194+3G>C	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 842290	NM_000152.5(GAA):c.1195-2A>C	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675785	NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)	GAA (W402*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic
Select item 657348	NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	GAA (D404N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 959950	NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)	GAA (D404G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 189082	NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	GAA (R437C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 371305	NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	GAA (M439K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 3241652	NM_000152.5(GAA):c.1327-58_1352del	GAA	Deletion (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic

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