ClinVar for Gene (Select 2548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367095	NM_000152.5(GAA):c.3G>T (p.Met1Ile)	GAA (M1I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3366759	NM_000152.5(GAA):c.380G>A (p.Cys127Tyr)	GAA (C127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366619	NM_000152.5(GAA):c.1913G>A (p.Gly638Glu)	GAA (G638E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
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 3346941	NM_000152.5(GAA):c.2800-15CT[2]	GAA	Microsatellite (intron variant)	GAA-related disorder	GUncertain significance
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 3339806	NM_000152.5(GAA):c.971C>A (p.Pro324Gln)	GAA (P324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339774	NM_000152.5(GAA):c.1904A>G (p.Asn635Ser)	GAA (N635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339456	NM_000152.5(GAA):c.1835A>G (p.His612Arg)	GAA (H612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339100	NM_000152.5(GAA):c.1905C>G (p.Asn635Lys)	GAA (N635K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3338327	NM_000152.5(GAA):c.729C>A (p.Asp243Glu)	GAA (D243E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 3337132	NM_000152.5(GAA):c.1243A>G (p.Thr415Ala)	GAA (T415A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3280343	NM_000152.5(GAA):c.2834A>G (p.Glu945Gly)	GAA (E945G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3280342	NM_000152.5(GAA):c.963C>T (p.Val321=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3280341	NM_000152.5(GAA):c.1717A>G (p.Asn573Asp)	GAA (N573D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3280339	NM_000152.5(GAA):c.2467A>C (p.Ile823Leu)	GAA (I823L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3280338	NM_000152.5(GAA):c.1476C>T (p.Asn492=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3280337	NM_000152.5(GAA):c.2853G>T (p.Trp951Cys)	GAA (W951C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
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 3241647	NM_000152.5(GAA):c.1437G>C (p.Lys479Asn)	GAA (K479N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 3235261	NM_000152.5(GAA):c.1703A>G (p.His568Arg)	GAA (H568R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 3235260	NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del)	GAA	Deletion (inframe_deletion)	Glycogen storage disease, type II	GPathogenic
Select item 3233834	NM_000152.5(GAA):c.1961C>T (p.Ser654Leu)	GAA (S654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230476	NM_000152.5(GAA):c.493C>T (p.Leu165=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230475	NM_000152.5(GAA):c.2724C>T (p.Gly908=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230474	NM_000152.5(GAA):c.2548G>C (p.Gly850Arg)	GAA (G850R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230473	NM_000152.5(GAA):c.2267T>C (p.Leu756Pro)	GAA (L756P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230472	NM_000152.5(GAA):c.1803G>C (p.Ser601=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230470	NM_000152.5(GAA):c.1157A>G (p.Gln386Arg)	GAA (Q386R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230469	NM_000152.5(GAA):c.1104C>T (p.Gly368=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3068848	NM_000152.5(GAA):c.1075+6G>T	GAA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 3054685	NM_000152.5(GAA):c.1888+11A>C	GAA	Single nucleotide variant (intron variant)	GAA-related disorder	GLikely benign
Select item 3054203	NM_000152.5(GAA):c.1888+8C>G	GAA	Single nucleotide variant (intron variant)	GAA-related disorder	GLikely benign
Select item 3051987	NM_000152.5(GAA):c.-32-17G>A	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3036847	NM_000152.5(GAA):c.858+7_858+8insAGCG	GAA	Insertion (intron variant)	GAA-related disorder	GLikely benign
Select item 3036795	NM_000152.5(GAA):c.-44G>A	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	GAA-related disorder	GLikely benign
Select item 3032870	NM_000152.5(GAA):c.1770T>C (p.Ala590=)	GAA	Single nucleotide variant (synonymous variant)	GAA-related disorder	GLikely benign
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 3029652	NM_000152.5(GAA):c.2647-27C>T	GAA	Single nucleotide variant (intron variant)	GAA-related disorder	GLikely benign
Select item 3023657	NM_000152.5(GAA):c.2040+9G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3022881	NM_000152.5(GAA):c.1341C>T (p.Ser447=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3021496	NM_000152.5(GAA):c.318C>A (p.Arg106=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3019921	NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)	GAA (S735C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 3019686	NM_000152.5(GAA):c.156_157del (p.His53fs)	GAA (H53fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic
Select item 3019030	NM_000152.5(GAA):c.2041-15C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3017435	NM_000152.5(GAA):c.1551+11C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3017425	NM_000152.5(GAA):c.1908G>C (p.Leu636=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3016835	NM_000152.5(GAA):c.2193C>T (p.Phe731=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3016481	NM_000152.5(GAA):c.693-20G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3015813	NM_000152.5(GAA):c.2304C>G (p.Pro768=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3014117	NM_000152.5(GAA):c.381C>T (p.Cys127=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3013998	NM_000152.5(GAA):c.693-11C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3013378	NM_000152.5(GAA):c.482C>A (p.Pro161His)	GAA (P161H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 3013254	NM_000152.5(GAA):c.105C>T (p.Phe35=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3010207	NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)	GAA (G651fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GPathogenic
Select item 3009778	NM_000152.5(GAA):c.2646+19C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3007591	NM_000152.5(GAA):c.546+12_546+17dup	GAA	Duplication (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 3005805	NM_000152.5(GAA):c.2004C>T (p.Tyr668=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3005252	NM_000152.5(GAA):c.2800-20T>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2999837	NM_000152.5(GAA):c.419A>T (p.Asn140Ile)	GAA (N140I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 2999404	NM_000152.5(GAA):c.1552-16A>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2998469	NM_000152.5(GAA):c.2007C>T (p.Pro669=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2997028	NM_000152.5(GAA):c.2040+18G>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2996917	NM_000152.5(GAA):c.1552-7C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2995006	NM_000152.5(GAA):c.2647-12T>C	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2988036	NM_000152.5(GAA):c.1194+10G>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2982827	NM_000152.5(GAA):c.693-15G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2982456	NM_000152.5(GAA):c.2121C>T (p.Pro707=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2982282	NM_000152.5(GAA):c.692+17G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2982273	NM_000152.5(GAA):c.2019C>T (p.Asn673=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2981854	NM_000152.5(GAA):c.1636+19T>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2980932	NM_000152.5(GAA):c.2821C>T (p.Leu941=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2978021	NM_000152.5(GAA):c.2040+18G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2977375	NM_000152.5(GAA):c.1195-17C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2977309	NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)	GAA (L552F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2976296	NM_000152.5(GAA):c.29A>T (p.His10Leu)	GAA (H10L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 2976098	NM_000152.5(GAA):c.2799+12C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 2975220	NM_000152.5(GAA):c.341A>G (p.Lys114Arg)	GAA (K114R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance

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