"GeneDx"[submitter] AND "GAA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
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 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 325752	NM_017950.4(CCDC40):c.*149T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type II +3 more	GBenign
Select item 325753	NM_017950.4(CCDC40):c.*186A>C	GAA, CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 325758	NM_017950.4(CCDC40):c.*265C>T	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 1178197	NC_000017.11:g.80101429C>T	GAA, LOC130061897	Single nucleotide variant	not provided	GBenign
Select item 1196474	NC_000017.11:g.80101448G>C	GAA, LOC130061897	Single nucleotide variant	not provided	GLikely benign
Select item 1342753	NC_000017.11:g.80101562C>T	GAA, LOC130061897	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 325767	NM_000152.5(GAA):c.-338C>G	LOC130061897, CCDC40 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 514097	NM_000152.5(GAA):c.-317C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 325768	NM_000152.5(GAA):c.-312C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 509412	NM_000152.5(GAA):c.-284G>A	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 325769	NM_000152.5(GAA):c.-260G>C	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 325771	NM_000152.5(GAA):c.-178G>A	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 384414	NM_000152.5(GAA):c.-116C>T	GAA	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 506864	NM_000152.5(GAA):c.-104C>T	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 669043	NM_000152.5(GAA):c.-103G>A	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 891115	NM_000152.5(GAA):c.-75C>G	CCDC40, GAA	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 15 +2 more	GLikely benign
Select item 389474	NM_000152.5(GAA):c.-37A>G	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 507758	NM_000152.5(GAA):c.-33+17C>T	GAA	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1237434	NM_000152.5(GAA):c.-33+219G>C	GAA, LOC130061898	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 677625	NM_000152.5(GAA):c.-32-181C>T	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196494	NM_000152.5(GAA):c.-32-84G>A	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1312131	NM_000152.5(GAA):c.-32-5C>G	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 507529	NM_000152.5(GAA):c.-32-5C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 382800	NM_000152.5(GAA):c.-32-4G>A	GAA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 671936	NM_000152.5(GAA):c.-18T>A	GAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 672170	NM_000152.5(GAA):c.-9T>C	GAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 255362	NM_000152.5(GAA):c.32G>A (p.Arg11Gln)	GAA (R11Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 456423	NM_000152.5(GAA):c.49G>A (p.Ala17Thr)	GAA (A17T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 391853	NM_000152.5(GAA):c.59C>G (p.Ser20Cys)	GAA (S20C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 512288	NM_000152.5(GAA):c.108G>C (p.Leu36=)	GAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 579061	NM_000152.5(GAA):c.109C>G (p.Leu37Val)	GAA (L37V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
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 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 2441614	NM_000152.5(GAA):c.158A>G (p.His53Arg)	GAA (H53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 325775	NM_000152.5(GAA):c.197G>A (p.Arg66Gln)	GAA (R66Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
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 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 573784	NM_000152.5(GAA):c.250G>A (p.Val84Ile)	GAA (V84I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
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 282138	NM_000152.5(GAA):c.258C>A (p.Pro86=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 1022970	NM_000152.5(GAA):c.261C>G (p.Asn87Lys)	GAA (N87K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456412	NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	GAA (R89C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance 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 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 456417	NM_000152.5(GAA):c.277G>A (p.Ala93Thr)	GAA (A93T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 568474	NM_000152.5(GAA):c.286A>G (p.Lys96Glu)	GAA (K96E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 386720	NM_000152.5(GAA):c.297C>G (p.Thr99=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 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 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 284483	NM_000152.5(GAA):c.362A>G (p.Gln121Arg)	GAA (Q121R)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 283495	NM_000152.5(GAA):c.368G>A (p.Gly123Glu)	GAA (G123E)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GBenign/Likely 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 1314667	NM_000152.5(GAA):c.454C>G (p.Leu152Val)	GAA (L152V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310552	NM_000152.5(GAA):c.472A>G (p.Thr158Ala)	GAA (T158A)	Single nucleotide variant (missense variant)	not provided +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 842132	NM_000152.5(GAA):c.502C>T (p.Arg168Trp)	GAA (R168W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310553	NM_000152.5(GAA):c.503G>T (p.Arg168Leu)	GAA (R168L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1199276	NM_000152.5(GAA):c.545C>T (p.Thr182Met)	GAA (T182M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499380	NM_000152.5(GAA):c.545C>G (p.Thr182Arg)	GAA (T182R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
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 281750	NM_000152.5(GAA):c.546+18G>A	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1218680	NM_000152.5(GAA):c.546+176C>T	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680590	NM_000152.5(GAA):c.546+293G>A	GAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680260	NM_000152.5(GAA):c.547-243C>G	GAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680263	NM_000152.5(GAA):c.547-238T>C	GAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707354	NM_000152.5(GAA):c.547-176TCC[2]	GAA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 972815	NM_000152.5(GAA):c.547-67C>G	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255363	NM_000152.5(GAA):c.547-39T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +2 more	GBenign
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 1309104	NM_000152.5(GAA):c.549C>G (p.Ile183Met)	GAA (I183M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 1309106	NM_000152.5(GAA):c.560C>G (p.Ala187Gly)	GAA (A187G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 645336	NM_000152.5(GAA):c.568C>T (p.Arg190Cys)	GAA (R190C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
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 1052736	NM_000152.5(GAA):c.574G>A (p.Glu192Lys)	GAA (E192K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286219	NM_000152.5(GAA):c.576G>C (p.Glu192Asp)	GAA (E192D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 386960	NM_000152.5(GAA):c.607C>T (p.Arg203Trp)	GAA (R203W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
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 652721	NM_000152.5(GAA):c.631G>A (p.Val211Met)	GAA (V211M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 645053	NM_000152.5(GAA):c.643G>A (p.Glu215Lys)	GAA (E215K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
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 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 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

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