Related gene-specific medical variations for Gene (Select 2548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362299	NM_000152.5(GAA):c.1111_1115delinsCCACTGGGG (p.Phe371fs)	GAA (F371fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3361331	NM_000152.5(GAA):c.1281G>T (p.Met427Ile)	GAA (M427I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361330	NM_000152.5(GAA):c.1221C>A (p.Tyr407Ter)	GAA (Y407*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3344666	NM_000152.5(GAA):c.-292C>A	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	GAA-related disorder	GLikely benign
Select item 3242838	NC_000017.10:g.(?_78092582)_(78096154_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3242837	NC_000017.10:g.(?_78090799)_(78093893_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3242836	NC_000017.10:g.(?_78082476)_(78090745_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3242835	NC_000017.10:g.(?_78079696)_(78082725_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3242834	NC_000017.10:g.(?_78091379)_(78093130_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3242833	NC_000017.10:g.(?_78090747)_(78093130_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3242830	NC_000017.10:g.(?_78086381)_(78091497_?)del	GAA	Deletion	Glycogen storage disease, type II	GLikely pathogenic
Select item 3242829	NC_000017.10:g.(?_78086997)_(78087185_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 3241657	NM_000152.5(GAA):c.2483del	GAA	Deletion (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3241656	NM_000152.5(GAA):c.1621_1622del (p.Pro541fs)	GAA (P541fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3241655	NM_000152.5(GAA):c.1996dup (p.Ala666fs)	GAA (A666fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic
Select item 3241654	NM_000152.5(GAA):c.2812del (p.Cys938fs)	GAA (C938fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3241653	NM_000152.5(GAA):c.1707C>G (p.Tyr569Ter)	GAA (Y569*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3241652	NM_000152.5(GAA):c.1327-58_1352del	GAA	Deletion (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
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 3241649	NM_000152.5(GAA):c.2331+2_2331+3del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3241648	NM_000152.5(GAA):c.955+1del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3241645	NM_000152.5(GAA):c.1930del (p.Ala644fs)	GAA (A644fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3068124	NM_000152.5(GAA):c.1616A>G (p.Glu539Gly)	GAA (E539G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 3065656	NM_000152.5(GAA):c.1559A>T (p.Asn520Ile)	GAA (N520I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 3030825	NM_000152.5(GAA):c.-311G>C	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	GAA-related disorder	GLikely benign
Select item 2690604	NM_000152.5(GAA):c.2369_2370delinsGTGA (p.Pro790fs)	GAA (P790fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2690603	NM_000152.5(GAA):c.1944_1946delinsAA (p.Phe649fs)	GAA (F649fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2689097	NM_000152.5(GAA):c.1109G>A (p.Gly370Asp)	GAA (G370D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689096	NM_000152.5(GAA):c.806T>C (p.Leu269Pro)	GAA (L269P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689095	NM_000152.5(GAA):c.389C>G (p.Pro130Arg)	GAA (P130R)	Single nucleotide variant (missense variant)	not provided	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 2675791	NM_000152.5(GAA):c.2331+4A>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675789	NM_000152.5(GAA):c.2331+1G>A	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GPathogenic
Select item 2675788	NM_000152.5(GAA):c.1494del (p.Trp498fs)	GAA (W498fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
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 2675786	NM_000152.5(GAA):c.2122dup (p.His708fs)	GAA (H708fs)	Duplication (frameshift 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 2675784	NM_000152.5(GAA):c.465dup (p.Thr156fs)	GAA (T156fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675782	NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)	GAA (N882fs)	Insertion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
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 2675779	NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)	GAA	Deletion (nonsense)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675778	NM_000152.5(GAA):c.2476del (p.Leu826fs)	GAA (L826fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675777	NM_000152.5(GAA):c.2701del (p.Leu901fs)	GAA (L901fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675776	NM_000152.5(GAA):c.2189+2T>A	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675775	NM_000152.5(GAA):c.2672del (p.Arg891fs)	GAA (R891fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
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 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 2675772	NM_000152.5(GAA):c.2723del (p.Gly908fs)	GAA (G908fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675771	NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)	GAA	Indel (frameshift variant)	Glycogen storage disease, type II	GLikely 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 2675769	NM_000152.5(GAA):c.2331+1G>C	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675768	NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)	GAA (R672fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675767	NM_000152.5(GAA):c.1407del (p.Asn470fs)	GAA (N470fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675766	NM_000152.5(GAA):c.1438-1G>A	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675765	NM_000152.5(GAA):c.2332-1G>A	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675764	NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)	GAA (L574P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675763	NM_000152.5(GAA):c.1924G>T (p.Val642Phe)	GAA (V642F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
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 2675761	NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)	GAA (R600L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
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 2675759	NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)	GAA (P768R)	Single nucleotide variant (missense 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 2675757	NM_000152.5(GAA):c.389del (p.Pro130fs)	GAA (P130fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2675756	NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)	GAA (R672L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 2675755	NM_000152.5(GAA):c.1798del (p.Arg600fs)	GAA (R600fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely 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 2675752	NM_000152.5(GAA):c.2799+2C>G	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2441626	NM_000152.5(GAA):c.522G>T (p.Glu174Asp)	GAA (E174D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441625	NM_000152.5(GAA):c.2020C>T (p.His674Tyr)	GAA (H674Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441623	NM_000152.5(GAA):c.1960T>G (p.Ser654Ala)	GAA (S654A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441620	NM_000152.5(GAA):c.556C>T (p.Pro186Ser)	GAA (P186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441619	NM_000152.5(GAA):c.272A>G (p.Asp91Gly)	GAA (D91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441617	NM_000152.5(GAA):c.1706A>G (p.Tyr569Cys)	GAA (Y569C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441616	NM_000152.5(GAA):c.1379A>G (p.Glu460Gly)	GAA (E460G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441615	NM_000152.5(GAA):c.2848A>T (p.Ser950Cys)	GAA (S950C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441612	NM_000152.5(GAA):c.1571A>C (p.Asn524Thr)	GAA (N524T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441611	NM_000152.5(GAA):c.2563G>A (p.Gly855Arg)	GAA (G855R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441608	NM_000152.5(GAA):c.2234T>G (p.Leu745Arg)	GAA (L745R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441607	NM_000152.5(GAA):c.2635C>G (p.Leu879Val)	GAA (L879V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441606	NM_000152.5(GAA):c.2095C>T (p.Leu699Phe)	GAA (L699F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441605	NM_000152.5(GAA):c.1304G>T (p.Gly435Val)	GAA (G435V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440386	NM_000152.5(GAA):c.1552-2A>C	GAA	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2440380	NM_000152.5(GAA):c.1541del (p.Gly514fs)	GAA (G514fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2440376	NM_000152.5(GAA):c.2477del (p.Leu826fs)	GAA (L826fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2440365	NM_000152.5(GAA):c.1961C>G (p.Ser654Ter)	GAA (S654*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2431983	NM_000152.5(GAA):c.804G>C (p.Met268Ile)	GAA (M268I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431979	NM_000152.5(GAA):c.2189+614T>C	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2431978	NM_000152.5(GAA):c.1637-40G>A	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2431977	NM_000152.5(GAA):c.611C>T (p.Ala204Val)	GAA (A204V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431976	NM_000152.5(GAA):c.2200G>A (p.Asp734Asn)	GAA (D734N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431975	NM_000152.5(GAA):c.2189+4A>G	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2431974	NM_000152.5(GAA):c.2557G>C (p.Ala853Pro)	GAA (A853P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431972	NM_000152.5(GAA):c.506T>C (p.Leu169Pro)	GAA (L169P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431971	NM_000152.5(GAA):c.713C>T (p.Pro238Leu)	GAA (P238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431970	NM_000152.5(GAA):c.1076-10T>A	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2431969	NM_000152.5(GAA):c.829A>G (p.Thr277Ala)	GAA (T277A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431967	NM_000152.5(GAA):c.1931C>A (p.Ala644Asp)	GAA (A644D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431966	NM_000152.5(GAA):c.2093C>A (p.Ala698Asp)	GAA (A698D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431964	NM_000152.5(GAA):c.257C>A (p.Pro86His)	GAA (P86H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431963	NM_000152.5(GAA):c.1244C>T (p.Thr415Met)	GAA (T415M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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