Related gene-specific medical variations for Gene (Select 178) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247636	NC_000001.10:g.(?_100381624)_(100382277_?)del	AGL	Deletion	Glycogen storage disease type III	GLikely pathogenic
Select item 3247634	NC_000001.10:g.(?_100329922)_(100336445_?)dup	AGL	Duplication	Glycogen storage disease type III	GUncertain significance
Select item 3247633	NC_000001.10:g.(?_100341994)_(100353684_?)del	AGL	Deletion	Glycogen storage disease type III	GPathogenic
Select item 3247632	NC_000001.10:g.(?_100327793)_(100327999_?)del	AGL	Deletion	Glycogen storage disease type III	GPathogenic
Select item 3241188	NM_000642.3(AGL):c.168_172delinsTTT (p.Phe57fs)	AGL (F41fs +1 more)	Indel (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241184	NM_000642.3(AGL):c.3971_3972del (p.Ser1323_Tyr1324insTer)	AGL	Microsatellite (frameshift variant +1 more)	Glycogen storage disease type III	GPathogenic
Select item 3241182	NM_000642.3(AGL):c.2898_2932del (p.Met966fs)	AGL (M950fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241180	NM_000642.3(AGL):c.1177C>T (p.Gln393Ter)	AGL (Q267* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 3241176	NM_000642.3(AGL):c.379_380del (p.Val127fs)	AGL (V111fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241173	NM_000642.3(AGL):c.1245dup (p.Leu416fs)	AGL (L400fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241166	NM_000642.3(AGL):c.266dup (p.Ser90fs)	AGL (S74fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241164	NM_000642.3(AGL):c.2660del (p.Ile887fs)	AGL (I871fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241161	NM_000642.3(AGL):c.4354_4355insCTAAAATAGGC (p.Leu1452fs)	AGL (L1436fs +1 more)	Insertion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241159	NM_000642.3(AGL):c.1143_1147del (p.Leu381fs)	AGL (L365fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241147	NM_000642.3(AGL):c.3136C>T (p.Gln1046Ter)	AGL (Q1030* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 3241136	NM_000642.3(AGL):c.1427C>G (p.Ser476Ter)	AGL (S350* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 3239671	NM_000642.3(AGL):c.2493T>A (p.Tyr831Ter)	AGL (Y705* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 3239668	NM_000642.3(AGL):c.1539del (p.Glu514fs)	AGL (E498fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3237523	NM_000642.3(AGL):c.4237G>C (p.Gly1413Arg)	AGL (G1287R +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 3237521	NM_000642.3(AGL):c.3947dup (p.His1316fs)	AGL (H1300fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3065055	NM_000642.3(AGL):c.3212dup (p.Asn1071fs)	AGL (N1055fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681135	NM_000642.3(AGL):c.100del (p.Arg34fs)	AGL (R18fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2681124	NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)	AGL (L420* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681115	NM_000642.3(AGL):c.3259+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681109	NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)	AGL (W380* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681096	NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)	AGL (R1053fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681086	NM_000642.3(AGL):c.3665del (p.Ala1222fs)	AGL (A1206fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2681080	NM_000642.3(AGL):c.538G>T (p.Glu180Ter)	AGL (E164* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681046	NM_000642.3(AGL):c.604del (p.Glu202fs)	AGL (E186fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681010	NM_000642.3(AGL):c.958+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2681006	NM_000642.3(AGL):c.1298_1299del (p.Pro433fs)	AGL (P417fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2681003	NM_000642.3(AGL):c.1423+1G>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic
Select item 2681000	NM_000642.3(AGL):c.3882dup (p.Arg1295fs)	AGL (R1279fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680999	NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)	AGL (Y1198* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680986	NM_000642.3(AGL):c.743G>A (p.Trp248Ter)	AGL (W122* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680982	NM_000642.3(AGL):c.1998del (p.Gln667fs)	AGL (Q651fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680976	NM_000642.3(AGL):c.809dup (p.Ile271fs)	AGL (I255fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680964	NM_000642.3(AGL):c.4255_4259+150del	AGL	Deletion (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680953	NM_000642.3(AGL):c.1284-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680952	NM_000642.3(AGL):c.3701-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680936	NM_000642.3(AGL):c.83-2A>G	AGL	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680889	NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)	AGL (Q871* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680872	NM_000642.3(AGL):c.3238del (p.Cys1080fs)	AGL (C1064fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680865	NM_000642.3(AGL):c.619del (p.Glu207fs)	AGL (E191fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680855	NM_000642.3(AGL):c.2812+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2680832	NM_000642.3(AGL):c.2034del (p.Lys679fs)	AGL (K663fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674874	NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)	AGL (D546* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674856	NM_000642.3(AGL):c.665-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674850	NM_000642.3(AGL):c.2869del (p.Cys957fs)	AGL (C941fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674831	NM_000642.3(AGL):c.296del (p.Asn99fs)	AGL (N83fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674828	NM_000642.3(AGL):c.3083+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674825	NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)	AGL	Insertion (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674823	NM_000642.3(AGL):c.2546+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic
Select item 2674810	NM_000642.3(AGL):c.193_194del (p.Leu65fs)	AGL (L49fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674807	NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT	AGL	Indel (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674803	NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)	AGL (W1371* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 2674776	NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)	AGL (E357* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674760	NM_000642.3(AGL):c.3287dup (p.Arg1097fs)	AGL (R1081fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2674753	NM_000642.3(AGL):c.3733del (p.Thr1245fs)	AGL (T1229fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674743	NM_000642.3(AGL):c.557C>G (p.Ser186Ter)	AGL (S170* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674732	NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)	AGL (S610* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 2674708	NM_000642.3(AGL):c.3745del (p.Tyr1249fs)	AGL (Y1233fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2440355	NM_000642.3(AGL):c.3787del (p.Met1263fs)	AGL (M1247fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2440278	NM_000642.3(AGL):c.1113dup (p.Asn372Ter)	AGL (N356* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 2438918	NM_000642.3(AGL):c.1735G>C (p.Glu579Gln)	AGL (E563Q +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2438917	NM_000642.3(AGL):c.3757C>T (p.Arg1253Cys)	AGL (R1237C +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1527204	GRCh37/hg19 1p21.2(chr1:100345603-100352899)	AGL	Copy number loss	not specified	GUncertain significance
Select item 1322900	NM_000642.3(AGL):c.4448del (p.Asn1483fs)	AGL (N1467fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 990716	NM_000642.3(AGL):c.921C>A (p.Asn307Lys)	AGL (N291K +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 989594	NM_000642.3(AGL):c.805A>G (p.Lys269Glu)	AGL (K253E +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 989593	NM_000642.3(AGL):c.368C>T (p.Pro123Leu)	AGL (P107L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 973526	NM_000642.3(AGL):c.2399dup (p.Asp801fs)	AGL (D785fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 973524	NM_000642.3(AGL):c.567dup (p.Arg190Ter)	AGL (R190* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 685074	GRCh37/hg19 1p21.2(chr1:100302513-100319101)x1	AGL	Copy number loss	not provided	GPathogenic
Select item 242588	NC_000001.10:g.100341011G>A	AGL (R428K +3 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1101	AGL, EcoRI FRAGMENT INS	AGL	Variation	Glycogen storage disease IIIa	GPathogenic

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Items: 76