"Ambry Genetics"[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 162852	NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 890468	NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)	CCDC40, GAA (R1071H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GUncertain significance
Select item 95880	NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)	CCDC40, GAA (V1114M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 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 283494	NM_000152.5(GAA):c.-2C>T	GAA	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1629636	NM_000152.5(GAA):c.21C>T (p.Pro7=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 657111	NM_000152.5(GAA):c.55G>A (p.Val19Met)	GAA (V19M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 1389670	NM_000152.5(GAA):c.69C>A (p.Thr23=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 570091	NM_000152.5(GAA):c.77T>G (p.Leu26Arg)	GAA (L26R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 2625360	NM_000152.5(GAA):c.81G>A (p.Leu27=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1652835	NM_000152.5(GAA):c.99T>C (p.His33=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2201259	NM_000152.5(GAA):c.117C>T (p.Pro39=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 2620001	NM_000152.5(GAA):c.144C>A (p.Val48=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1440715	NM_000152.5(GAA):c.144C>T (p.Val48=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 456386	NM_000152.5(GAA):c.183C>T (p.Ser61=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1150748	NM_000152.5(GAA):c.231A>G (p.Ala77=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
Select item 1649130	NM_000152.5(GAA):c.234G>T (p.Val78=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 753262	NM_000152.5(GAA):c.246C>T (p.Cys82=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 724812	NM_000152.5(GAA):c.252C>T (p.Val84=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 1544664	NM_000152.5(GAA):c.255C>G (p.Pro85=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 456413	NM_000152.5(GAA):c.270C>T (p.Phe90=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1113142	NM_000152.5(GAA):c.276C>T (p.Cys92=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
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 1730056	NM_000152.5(GAA):c.330C>T (p.Tyr110=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 645805	NM_000152.5(GAA):c.347G>T (p.Gly116Val)	GAA (G116V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 283496	NM_000152.5(GAA):c.351G>A (p.Leu117=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1576003	NM_000152.5(GAA):c.372G>A (p.Gln124=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 1581105	NM_000152.5(GAA):c.384C>T (p.Phe128=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 1125666	NM_000152.5(GAA):c.408C>T (p.Tyr136=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 1575401	NM_000152.5(GAA):c.450C>G (p.Ala150=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 3230476	NM_000152.5(GAA):c.493C>T (p.Leu165=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1744882	NM_000152.5(GAA):c.502C>A (p.Arg168=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 1745469	NM_000152.5(GAA):c.511G>C (p.Val171Leu)	GAA (V171L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745602	NM_000152.5(GAA):c.513G>C (p.Val171=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1160582	NM_000152.5(GAA):c.543C>T (p.Phe181=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely 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 512791	NM_000152.5(GAA):c.573C>T (p.Tyr191=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1639416	NM_000152.5(GAA):c.594G>T (p.Pro198=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1117967	NM_000152.5(GAA):c.594G>A (p.Pro198=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1104659	NM_000152.5(GAA):c.603C>T (p.His201=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1669697	NM_000152.5(GAA):c.609G>A (p.Arg203=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 456424	NM_000152.5(GAA):c.618C>T (p.Ser206=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 796583	NM_000152.5(GAA):c.654C>T (p.Phe218=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 255365	NM_000152.5(GAA):c.658G>T (p.Val220Leu)	GAA (V220L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
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 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 188476	NM_000152.5(GAA):c.676C>G (p.Leu226Val)	GAA (L226V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 1140594	NM_000152.5(GAA):c.681C>T (p.Asp227=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
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 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 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 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 456433	NM_000152.5(GAA):c.715C>T (p.Leu239=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 2710997	NM_000152.5(GAA):c.742C>T (p.Leu248=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 509666	NM_000152.5(GAA):c.762G>A (p.Ser254=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
Select item 515070	NM_000152.5(GAA):c.780C>T (p.Leu260=)	GAA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1763158	NM_000152.5(GAA):c.837G>T (p.Trp279Cys)	GAA (W279C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 719943	NM_000152.5(GAA):c.855C>A (p.Pro285=)	GAA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 385251	NM_000152.5(GAA):c.867G>A (p.Ala289=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
Select item 255368	NM_000152.5(GAA):c.876C>T (p.Tyr292=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 456443	NM_000152.5(GAA):c.909C>T (p.Asp303=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 966907	NM_000152.5(GAA):c.912C>T (p.Gly304=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 658653	NM_000152.5(GAA):c.918G>A (p.Ser306=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 456444	NM_000152.5(GAA):c.922C>T (p.His308Tyr)	GAA (H308Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3280342	NM_000152.5(GAA):c.963C>T (p.Val321=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 382672	NM_000152.5(GAA):c.972G>A (p.Pro324=)	GAA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1731020	NM_000152.5(GAA):c.1011G>A (p.Leu337=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1137099	NM_000152.5(GAA):c.1044G>A (p.Lys348=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1775202	NM_000152.5(GAA):c.1045A>G (p.Ser349Gly)	GAA (S349G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 597962	NM_000152.5(GAA):c.1047C>T (p.Ser349=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 783175	NM_000152.5(GAA):c.1068C>T (p.Asp356=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 188479	NM_000152.5(GAA):c.1069G>T (p.Val357Phe)	GAA (V357F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 501028	NM_000152.5(GAA):c.1083G>A (p.Pro361=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1121224	NM_000152.5(GAA):c.1095A>G (p.Pro365=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign

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