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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 389735	NM_000642.3(AGL):c.-76C>G	AGL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389194	NM_000642.3(AGL):c.-69+11G>C	AGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 195096	NM_000642.3(AGL):c.-10A>G	AGL	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1095	NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	AGL (Q6*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195097	NM_000642.3(AGL):c.18_19del (p.Gln6fs)	AGL (Q6fs)	Deletion (frameshift variant)	Glycogen storage disease type III +2 more	GPathogenic/Likely pathogenic
Select item 287104	NM_000642.3(AGL):c.39C>T (p.Asn13=)	AGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 291322	NM_000642.3(AGL):c.82+4A>C	AGL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 676091	NM_000642.3(AGL):c.82+85C>T	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189503	NM_000642.3(AGL):c.82+276T>C	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293606	NM_000642.3(AGL):c.82+1248del	AGL	Deletion (intron variant)	not provided	GBenign
Select item 1257514	NM_000642.3(AGL):c.82+1247_82+1248del	AGL	Deletion (intron variant)	not provided	GBenign
Select item 1193035	NM_000642.3(AGL):c.82+1354T>A	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291043	NM_000642.3(AGL):c.82+1432dup	AGL	Duplication (intron variant)	not provided	GBenign
Select item 1206245	NM_000642.3(AGL):c.82+1565T>G	AGL (I7S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1219832	NM_000642.3(AGL):c.83-386A>G	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182306	NM_000642.3(AGL):c.83-353G>C	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216675	NM_000642.3(AGL):c.83-93C>G	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510590	NM_000642.3(AGL):c.83-34A>G	AGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 256750	NM_000642.3(AGL):c.83-33C>T	AGL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 512135	NM_000642.3(AGL):c.103T>C (p.Leu35=)	AGL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 256718	NM_000642.3(AGL):c.112A>G (p.Thr38Ala)	AGL (T38A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 189045	NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	AGL (Q40* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 256726	NM_000642.3(AGL):c.207T>C (p.Asn69=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 196286	NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	AGL (Q86* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +2 more	GPathogenic/Likely pathogenic
Select item 390684	NM_000642.3(AGL):c.261A>G (p.Gln87=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 515018	NM_000642.3(AGL):c.293+3A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 678103	NM_000642.3(AGL):c.293+212C>A	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193928	NM_000642.3(AGL):c.294-122T>C	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 576547	NM_000642.3(AGL):c.341G>A (p.Arg114His)	AGL (R114H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +3 more	GUncertain significance
Select item 682374	NM_000642.3(AGL):c.366A>G (p.Leu122=)	AGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1212171	NM_000642.3(AGL):c.460+81T>G	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682710	NM_000642.3(AGL):c.460+293G>A	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682723	NM_000642.3(AGL):c.461-279A>C	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280690	NM_000642.3(AGL):c.461-271A>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181506	NM_000642.3(AGL):c.461-117G>T	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676092	NM_000642.3(AGL):c.461-53G>C	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185955	NM_000642.3(AGL):c.664+52C>T	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676094	NM_000642.3(AGL):c.664+92A>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677943	NM_000642.3(AGL):c.664+150T>C	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298041	NM_000642.3(AGL):c.665-196del	AGL	Deletion (intron variant)	not provided	GBenign
Select item 679283	NM_000642.3(AGL):c.665-168A>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294321	NM_000642.3(AGL):c.665-73A>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196968	NM_000642.3(AGL):c.665-43A>G	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256749	NM_000642.3(AGL):c.686A>G (p.Gln229Arg)	AGL (Q229R +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 370509	NM_000642.3(AGL):c.753_756del (p.Asp251fs)	AGL (D235fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 389050	NM_000642.3(AGL):c.846+14G>A	AGL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 510786	NM_000642.3(AGL):c.847-20dup	AGL	Duplication (intron variant)	not specified	GLikely benign
Select item 385974	NM_000642.3(AGL):c.854G>A (p.Arg285Gln)	AGL (R285Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 198432	NM_000642.3(AGL):c.894C>T (p.Leu298=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1313526	NM_000642.3(AGL):c.895T>G (p.Trp299Gly)	AGL (W283G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 390560	NM_000642.3(AGL):c.954A>G (p.Thr318=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 1250984	NM_000642.3(AGL):c.958+200C>T	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682724	NM_000642.3(AGL):c.959-300T>C	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267460	NM_000642.3(AGL):c.959-170A>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420596	NM_000642.3(AGL):c.959-61_959-60insTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG	AGL	Insertion (intron variant)	not specified	GLikely benign
Select item 380578	NM_000642.3(AGL):c.959-53A>T	AGL	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1180950	NM_000642.3(AGL):c.959-19_959-18insATCTTTTCTTTCTTTTA	AGL	Insertion (intron variant)	not provided	GLikely benign
Select item 256751	NM_000642.3(AGL):c.959-18G>A	AGL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 507752	NM_000642.3(AGL):c.959-15T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 456516	NM_000642.3(AGL):c.968G>A (p.Arg323Gln)	AGL (R323Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 429532	NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	AGL (R343W +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 445557	NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	AGL (R343Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 510738	NM_000642.3(AGL):c.1062A>G (p.Leu354=)	AGL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 509467	NM_000642.3(AGL):c.1082+4T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 1186854	NM_000642.3(AGL):c.1082+76_1082+78del	AGL	Deletion (intron variant)	not provided	GLikely benign
Select item 1207716	NM_000642.3(AGL):c.1082+88G>A	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273518	NM_000642.3(AGL):c.1083-162A>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216273	NM_000642.3(AGL):c.1083-120G>C	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256719	NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	AGL (K385N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 199034	NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)	AGL (R387Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 256720	NM_000642.3(AGL):c.1185+15T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +2 more	GBenign
Select item 1106	NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	AGL (R408* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 456451	NM_000642.3(AGL):c.1226T>G (p.Leu409Arg)	AGL (L409R +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 1197146	NM_000642.3(AGL):c.1284-325C>T	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 456453	NM_000642.3(AGL):c.1284-4A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 256721	NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)	AGL (S440F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1723804	NM_000642.3(AGL):c.1324G>C (p.Glu442Gln)	AGL (E426Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042856	NM_000642.3(AGL):c.1388T>A (p.Met463Lys)	AGL (M463K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389650	NM_000642.3(AGL):c.1423+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 1294319	NM_000642.3(AGL):c.1423+74C>T	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211863	NM_000642.3(AGL):c.1423+124G>T	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198215	NM_000642.3(AGL):c.1424-164T>A	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294317	NM_000642.3(AGL):c.1424-124T>A	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256722	NM_000642.3(AGL):c.1424-44A>G	AGL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256723	NM_000642.3(AGL):c.1481G>A (p.Arg494His)	AGL (R494H +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 456456	NM_000642.3(AGL):c.1602C>T (p.His534=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GBenign/Likely benign
Select item 1255130	NM_000642.3(AGL):c.1612-338AATA[7]	AGL	Microsatellite (intron variant)	not provided	GBenign
Select item 1208142	NM_000642.3(AGL):c.1612-236TTC[2]	AGL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1294318	NM_000642.3(AGL):c.1612-70C>G	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256724	NM_000642.3(AGL):c.1612-24C>A	AGL	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 392136	NM_000642.3(AGL):c.1612-10C>G	AGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1263775	NM_000642.3(AGL):c.1736-213C>T	AGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291333	NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	AGL (H587Y +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 456459	NM_000642.3(AGL):c.1810T>G (p.Phe604Val)	AGL (F604V +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 382454	NM_000642.3(AGL):c.1875G>T (p.Thr625=)	AGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289630	NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)	AGL (E629K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456460	NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)	AGL (I632T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 384584	NM_000642.3(AGL):c.1900-6T>C	AGL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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