AGL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 146798	GRCh38/hg38 1p21.2(chr1:99515860-100031916)x3	AGL, FRRS1 +13 more	Copy number gain	See cases	GLikely benign
Select item 291320	NM_000642.2(AGL):c.-208C>T	AGL	Single nucleotide variant (genic upstream transcript variant)	Glycogen storage disease type III	GUncertain significance
Select item 291321	NM_000642.2(AGL):c.-134C>G	AGL	Single nucleotide variant (genic upstream transcript variant)	Glycogen storage disease type III	GUncertain significance
Select item 874956	NM_000642.3(AGL):c.-104C>T	AGL	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease type III	GUncertain significance
Select item 874957	NM_000642.3(AGL):c.-95A>G	AGL	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease type III	GUncertain significance
Select item 874958	NM_000642.3(AGL):c.-82A>G	AGL	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease type III	GUncertain significance
Select item 389735	NM_000642.3(AGL):c.-76C>G	AGL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 631557	NM_000642.3(AGL):c.-69+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GUncertain significance
Select item 389194	NM_000642.3(AGL):c.-69+11G>C	AGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 584350	NC_000001.10:g.(?_100316579)_(100387227_?)dup	AGL	Duplication	Glycogen storage disease type III	GUncertain significance
Select item 195096	NM_000642.3(AGL):c.-10A>G	AGL	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 551795	NM_000642.3(AGL):c.3G>C (p.Met1Ile)	AGL (M1I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 1020831	NM_000642.3(AGL):c.4G>A (p.Gly2Arg)	AGL (G2R)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 3020092	NM_000642.3(AGL):c.6A>C (p.Gly2=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2888767	NM_000642.3(AGL):c.6A>G (p.Gly2=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1430557	NM_000642.3(AGL):c.8A>G (p.His3Arg)	AGL (H3R)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 971151	NM_000642.3(AGL):c.11G>A (p.Ser4Asn)	AGL (S4N)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1115753	NM_000642.3(AGL):c.12T>C (p.Ser4=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1141380	NM_000642.3(AGL):c.18G>A (p.Gln6=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 557911	NM_000642.3(AGL):c.22del (p.Arg8fs)	AGL (R8fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 370924	NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	AGL (R8*)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 976686	NM_000642.3(AGL):c.24_25del (p.Ile9fs)	AGL (I9fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 663206	NM_000642.3(AGL):c.25A>G (p.Ile9Val)	AGL (I9V)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2139098	NM_000642.3(AGL):c.30A>G (p.Leu10=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 456483	NM_000642.3(AGL):c.30A>T (p.Leu10Phe)	AGL (L10F)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1451136	NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)	AGL (N13fs)	Insertion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 287104	NM_000642.3(AGL):c.39C>T (p.Asn13=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1369367	NM_000642.3(AGL):c.40G>A (p.Glu14Lys)	AGL (E14K)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2121513	NM_000642.3(AGL):c.50A>G (p.Lys17Arg)	AGL (K17R)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2000419	NM_000642.3(AGL):c.51A>G (p.Lys17=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1151180	NM_000642.3(AGL):c.52C>T (p.Leu18=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2883444	NM_000642.3(AGL):c.54G>A (p.Leu18=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1444695	NM_000642.3(AGL):c.55del (p.Glu19fs)	AGL (E19fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2009042	NM_000642.3(AGL):c.60G>A (p.Lys20=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 861734	NM_000642.3(AGL):c.60G>C (p.Lys20Asn)	AGL (K20N)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 371162	NM_000642.3(AGL):c.64del (p.Leu22fs)	AGL (L22fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 1399786	NM_000642.3(AGL):c.64C>G (p.Leu22Val)	AGL (L22V)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1024138	NM_000642.3(AGL):c.64C>T (p.Leu22Phe)	AGL (L22F)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2132499	NM_000642.3(AGL):c.66C>T (p.Leu22=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1134830	NM_000642.3(AGL):c.66C>G (p.Leu22=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1429217	NM_000642.3(AGL):c.68T>A (p.Phe23Tyr)	AGL (F23Y)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 761402	NM_000642.3(AGL):c.69C>T (p.Phe23=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 966323	NM_000642.3(AGL):c.71G>T (p.Arg24Ile)	AGL (R24I)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 860664	NM_000642.3(AGL):c.71G>C (p.Arg24Thr)	AGL (R24T)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1685508	NM_000642.3(AGL):c.74_75del (p.Leu25fs)	AGL (L25fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 1142321	NM_000642.3(AGL):c.75T>G (p.Leu25=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2061718	NM_000642.3(AGL):c.76G>C (p.Glu26Gln)	AGL (E26Q)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 456513	NM_000642.3(AGL):c.78A>G (p.Glu26=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2699402	NM_000642.3(AGL):c.82+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2112761	NM_000642.3(AGL):c.82+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 555731	NM_000642.3(AGL):c.82+1G>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2746426	NM_000642.3(AGL):c.82+2T>G	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 291322	NM_000642.3(AGL):c.82+4A>C	AGL	Single nucleotide variant (intron variant)	AGL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1509248	NM_000642.3(AGL):c.82+6T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GUncertain significance
Select item 2083487	NM_000642.3(AGL):c.82+7A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2708965	NM_000642.3(AGL):c.82+8G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2194318	NM_000642.3(AGL):c.82+11A>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2714115	NM_000642.3(AGL):c.82+16_82+20del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2704772	NM_000642.3(AGL):c.82+14T>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2969427	NM_000642.3(AGL):c.82+17T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 1578881	NM_000642.3(AGL):c.82+18T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2866563	NM_000642.3(AGL):c.82+20G>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
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 3048207	NM_000642.3(AGL):c.82+1542G>A	AGL	Single nucleotide variant (intron variant)	AGL-related condition	GLikely benign
Select item 3036526	NM_000642.3(AGL):c.82+1544G>A	AGL	Single nucleotide variant (intron variant)	AGL-related condition	GLikely benign
Select item 556579	NM_000642.3(AGL):c.82+1547T>C	AGL (M1T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease type III	GLikely benign
Select item 1206245	NM_000642.3(AGL):c.82+1565T>G	AGL (I7S)	Single nucleotide variant (missense variant +1 more)	AGL-related condition +2 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)	Glycogen storage disease type III +1 more	GBenign
Select item 556800	NM_000642.3(AGL):c.83-29G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 552363	NM_000642.3(AGL):c.83-24del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 554059	NM_000642.3(AGL):c.83-19del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2869427	NM_000642.3(AGL):c.83-17A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 551083	NM_000642.3(AGL):c.83-17_83-16del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 1958189	NM_000642.3(AGL):c.83-15G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2068161	NM_000642.3(AGL):c.83-13G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2838809	NM_000642.3(AGL):c.83-7dup	AGL	Duplication (intron variant)	Glycogen storage disease type III	GBenign
Select item 2823546	NM_000642.3(AGL):c.83-11T>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2680936	NM_000642.3(AGL):c.83-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 556310	NM_000642.2(AGL):c.84delG	AGL	Deletion	Glycogen storage disease type III	GLikely pathogenic
Select item 1057423	NM_000642.3(AGL):c.83G>A (p.Gly28Glu)	AGL (G12E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1454342	NM_000642.3(AGL):c.84G>A (p.Gly28=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1136321	NM_000642.3(AGL):c.87T>C (p.Tyr29=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 1055503	NM_000642.3(AGL):c.88G>A (p.Glu30Lys)	AGL (E14K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2166791	NM_000642.3(AGL):c.89A>G (p.Glu30Gly)	AGL (E14G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1564929	NM_000642.3(AGL):c.90G>A (p.Glu30=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 1546442	NM_000642.3(AGL):c.90_91delinsAT (p.Glu30_Leu31=)	AGL	Indel (synonymous variant)	Glycogen storage disease type III	GLikely benign

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