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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 127

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 371162	NM_000642.3(AGL):c.64del (p.Leu22fs)	AGL (L22fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely 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 556579	NM_000642.3(AGL):c.82+1547T>C	AGL (M1T)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease type III	GLikely benign
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 551083	NM_000642.3(AGL):c.83-17_83-16del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 556310	NM_000642.2(AGL):c.84delG	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 188818	NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	AGL (Q32* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 188743	NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	AGL (R34* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 370535	NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	AGL (L35* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
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 552940	NM_000642.3(AGL):c.121G>T (p.Gly41Ter)	AGL (G41* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 371533	NM_000642.3(AGL):c.140dup (p.Tyr47Ter)	AGL (Y31* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 550913	NM_000642.3(AGL):c.219AGA[1] (p.Glu74del)	AGL (E74del +1 more)	Microsatellite (frameshift variant +2 more)	Glycogen storage disease type III	GUncertain significance
Select item 554853	NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	AGL	Deletion (frameshift variant +1 more)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 371401	NM_000642.3(AGL):c.276del (p.Gln92fs)	AGL (Q92fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 497124	NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	AGL (Q97* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 370565	NM_000642.3(AGL):c.293+1del	AGL	Deletion (splice donor variant +1 more)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 371500	NM_000642.3(AGL):c.294-1G>C	AGL	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 370199	NM_000642.3(AGL):c.348_373del (p.Ala117fs)	AGL (A101fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 552089	NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)	AGL (D141del +1 more)	Microsatellite (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 371529	NM_000642.3(AGL):c.437del (p.Arg146fs)	AGL (R130fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 370318	NM_000642.3(AGL):c.442del (p.Arg148fs)	AGL (R148fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 550726	NM_000642.3(AGL):c.460+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 550843	NM_000642.3(AGL):c.500dup (p.Leu168fs)	AGL (L168fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 197686	NM_000642.3(AGL):c.535_538del (p.Leu179fs)	AGL (L163fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550254	NM_000642.3(AGL):c.664+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 188994	NM_000642.3(AGL):c.664+3A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 370418	NM_000642.3(AGL):c.672dup (p.Ser225Ter)	AGL (S225* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
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 291327	NM_000642.3(AGL):c.847-7T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GUncertain significance
Select item 550128	NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	AGL (R285* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 555703	NM_000642.3(AGL):c.854del (p.Arg285fs)	AGL (R269fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 550103	NM_000642.3(AGL):c.958+1G>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic
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 371296	NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	AGL (H360Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554166	NM_000642.3(AGL):c.1082+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 553738	NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)	AGL (R387* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 370750	NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)	AGL (N390fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 371027	NM_000642.3(AGL):c.1185+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 553881	NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn)	AGL	Deletion (inframe_indel)	Glycogen storage disease type III	GUncertain significance
Select item 189080	NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	AGL	Deletion (nonsense +1 more)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 188999	NM_000642.3(AGL):c.1391dup (p.Asp465fs)	AGL (D449fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 370980	NM_000642.3(AGL):c.1400del (p.Pro467fs)	AGL (P451fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
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 555587	NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer)	AGL	Deletion (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 526603	NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)	AGL (D526G +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 554746	NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)	AGL (S530* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 370538	NM_000642.3(AGL):c.1597_1598del (p.Leu533fs)	AGL (L533fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 551092	NM_000642.3(AGL):c.1612-1G>C	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 557356	NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del)	AGL (I577del +4 more)	Microsatellite (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 370531	NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)	AGL (Y594* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 553133	NM_000642.3(AGL):c.1877A>G (p.His626Arg)	AGL (H626R +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 551192	NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr)	AGL (D627Y +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 553946	NM_000642.3(AGL):c.1913ATG[3] (p.Asp639_Ala640insAsp)	AGL	Microsatellite (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 370710	NM_000642.3(AGL):c.2001+2T>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 370658	NM_000642.3(AGL):c.2011_2012del (p.Val671fs)	AGL (V655fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 557763	NM_000642.3(AGL):c.2120_2121del (p.Lys707fs)	AGL (K691fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 557690	NM_000642.3(AGL):c.2158-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 556632	NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	AGL (Q725fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 371263	NM_000642.3(AGL):c.2278del (p.Ser760fs)	AGL (S744fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 188804	NM_000642.3(AGL):c.2309-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 553945	NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del)	AGL (E774del +4 more)	Microsatellite (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 551333	NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	AGL (Q820fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 371632	NM_000642.3(AGL):c.2525del (p.Pro842fs)	AGL (P842fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 371074	NM_000642.3(AGL):c.2538dup (p.Ile847fs)	AGL (I847fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 370127	NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)	AGL (Q869* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 371344	NM_000642.3(AGL):c.2681+1G>T	AGL	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 281229	NM_000642.3(AGL):c.2681+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III +2 more	GPathogenic
Select item 555271	NM_000642.3(AGL):c.2682-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 558529	NM_000642.3(AGL):c.2717_2721del (p.Gln906fs)	AGL (Q906fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 555605	NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)	AGL (L908R +5 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 555290	NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)	AGL (R910* +5 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 552586	NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs)	AGL (Y953fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 370992	NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	AGL (R977* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551550	NM_000642.3(AGL):c.2949+2dup	AGL	Duplication (splice donor variant)	Glycogen storage disease type III	GUncertain significance
Select item 554095	NM_000642.3(AGL):c.2949+2T>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 552111	NM_000642.3(AGL):c.2949+2T>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 555949	NM_000642.3(AGL):c.2950-2A>C	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 370819	NM_000642.3(AGL):c.2950-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 550339	NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del)	AGL (F993del +6 more)	Microsatellite (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 370197	NM_000642.3(AGL):c.3011del (p.Pro1004fs)	AGL (P988fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 552500	NM_000642.3(AGL):c.3083+5_3083+6del	AGL	Microsatellite (splice donor variant)	Glycogen storage disease type III	GUncertain significance
Select item 371033	NM_000642.3(AGL):c.3083+2T>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 558228	NM_000642.3(AGL):c.3191_3193dup (p.Met1064_Asp1065insVal)	AGL	Duplication (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 432008	NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	AGL (E1056fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III +2 more	GPathogenic
Select item 551403	NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)	AGL (Q1079* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 553150	NM_000642.3(AGL):c.3259+3A>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GUncertain significance
Select item 526572	NM_000642.3(AGL):c.3290G>A (p.Arg1097His)	AGL (R1097H +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 188819	NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)	AGL (W1099* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 558267	NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)	AGL (Y1101* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 556821	NM_000642.3(AGL):c.3362+1G>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 370470	NM_000642.3(AGL):c.3363-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 371194	NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter)	AGL (Y1132* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 188939	NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)	AGL (Y1148* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 550554	NM_000642.3(AGL):c.3538del (p.Ser1180fs)	AGL (S1180fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic

<< First< Prev

Page of 2