ClinVar for Gene (Select 178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3238941	NM_000642.3(AGL):c.1643C>T (p.Pro548Leu)	AGL (P422L +4 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
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 3236358	NM_000642.3(AGL):c.1788T>A (p.Tyr596Ter)	AGL (Y470* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 3095953	NM_000642.3(AGL):c.895T>A (p.Trp299Arg)	AGL (W173R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095948	NM_000642.3(AGL):c.838C>T (p.His280Tyr)	AGL (H154Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095929	NM_000642.3(AGL):c.559A>G (p.Arg187Gly)	AGL (R61G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095921	NM_000642.3(AGL):c.509G>C (p.Arg170Thr)	AGL (R170T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095893	NM_000642.3(AGL):c.4175T>G (p.Phe1392Cys)	AGL (F1266C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095842	NM_000642.3(AGL):c.3443A>G (p.Tyr1148Cys)	AGL (Y1022C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095828	NM_000642.3(AGL):c.3415C>G (p.Leu1139Val)	AGL (L1071V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095794	NM_000642.3(AGL):c.2860C>A (p.His954Asn)	AGL (H886N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095791	NM_000642.3(AGL):c.2705C>T (p.Ala902Val)	AGL (A834V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095768	NM_000642.3(AGL):c.2353A>G (p.Asn785Asp)	AGL (N659D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095760	NM_000642.3(AGL):c.2177A>G (p.Asp726Gly)	AGL (D658G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3061504	NM_000642.3(AGL):c.2546+5G>A	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3061304	NM_000642.3(AGL):c.3072G>A (p.Lys1024=)	AGL	Single nucleotide variant (synonymous variant)	AGL-related disorder	GLikely benign
Select item 3057337	NM_000642.3(AGL):c.1082+26AAT[2]	AGL	Microsatellite (intron variant)	AGL-related disorder	GLikely benign
Select item 3050823	NM_000642.3(AGL):c.3259+36C>T	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3048207	NM_000642.3(AGL):c.82+1542G>A	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3042632	NM_000642.3(AGL):c.3259+29T>C	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3039248	NM_000642.3(AGL):c.3259+25A>G	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3038565	NM_000642.3(AGL):c.1082+75A>G	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3036526	NM_000642.3(AGL):c.82+1544G>A	AGL	Single nucleotide variant (intron variant)	AGL-related disorder	GLikely benign
Select item 3029614	NM_000642.3(AGL):c.1082+30_1082+35del	AGL	Microsatellite (intron variant)	AGL-related disorder	GLikely benign
Select item 3026934	NM_000642.3(AGL):c.2714del (p.Asn905fs)	AGL (N889fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3023591	NM_000642.3(AGL):c.3259+20G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3023357	NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)	AGL (R591* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
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 3019216	NM_000642.3(AGL):c.1887G>A (p.Glu629=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 3018838	NM_000642.3(AGL):c.2681+20T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3018190	NM_000642.3(AGL):c.1002G>T (p.Thr334=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 3016382	NM_000642.3(AGL):c.959-16C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3014940	NM_000642.3(AGL):c.2308+20G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3013413	NM_000642.3(AGL):c.3950-8T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3009716	NM_000642.3(AGL):c.808G>T (p.Gly270Ter)	AGL (G254* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 3009528	NM_000642.3(AGL):c.2547-9C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3007648	NM_000642.3(AGL):c.1029G>A (p.Arg343=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 3007206	NM_000642.3(AGL):c.3589-18C>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3006532	NM_000642.3(AGL):c.4482-13T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3002870	NM_000642.3(AGL):c.3588+19A>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 3002346	NM_000642.3(AGL):c.1521A>G (p.Ala507=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 3001716	NM_000642.3(AGL):c.3510T>C (p.Asn1170=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 3001398	NM_000642.3(AGL):c.2308+2T>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 2999888	NM_000642.3(AGL):c.3588+8T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2998824	NM_000642.3(AGL):c.402T>C (p.Ala134=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2998593	NM_000642.3(AGL):c.3362+15A>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2994810	NM_000642.3(AGL):c.4347+13T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2991719	NM_000642.3(AGL):c.1077A>G (p.Pro359=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2990937	NM_000642.3(AGL):c.3260-5G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2989864	NM_000642.3(AGL):c.2812+13A>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2989328	NM_000642.3(AGL):c.2433+15C>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2988971	NM_000642.3(AGL):c.249T>C (p.Leu83=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2988285	NM_000642.3(AGL):c.294-8dup	AGL	Duplication (intron variant)	Glycogen storage disease type III	GBenign
Select item 2987919	NM_000642.3(AGL):c.4024del (p.Ser1342fs)	AGL (S1326fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2983774	NM_000642.3(AGL):c.3701-5T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2982775	NM_000642.3(AGL):c.1082+12G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2982583	NM_000642.3(AGL):c.3589-20A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2981416	NM_000642.3(AGL):c.2434-11T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2981106	NM_000642.3(AGL):c.4259+11A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2980399	NM_000642.3(AGL):c.3589-16A>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2979880	NM_000642.3(AGL):c.4596A>G (p.Leu1532=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2979035	NM_000642.3(AGL):c.1656A>G (p.Val552=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2978752	NM_000642.3(AGL):c.460+15C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2978664	NM_000642.3(AGL):c.2700T>G (p.Thr900=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2977868	NM_000642.3(AGL):c.1083-9C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2977298	NM_000642.3(AGL):c.2813-20A>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2974647	NM_000642.3(AGL):c.4431T>C (p.Thr1477=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2974372	NM_000642.3(AGL):c.2157+11A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2972734	NM_000642.3(AGL):c.4162-20T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2972655	NM_000642.3(AGL):c.2568A>G (p.Ala856=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2971823	NM_000642.3(AGL):c.1423+19C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2971790	NM_000642.3(AGL):c.3837-14T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2971168	NM_000642.3(AGL):c.293+15T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2970582	NM_000642.3(AGL):c.141T>C (p.Tyr47=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2969879	NM_000642.3(AGL):c.4161+13T>C	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 2968056	NM_000642.3(AGL):c.1900-13T>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2968055	NM_000642.3(AGL):c.847-12G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2966589	NM_000642.3(AGL):c.4348-17T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2965043	NM_000642.3(AGL):c.4482-16C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2963563	NM_000642.3(AGL):c.1320C>T (p.Ser440=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2961323	NM_000642.3(AGL):c.2158-17T>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2959227	NM_000642.3(AGL):c.4260-25_4260-15del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2957127	NM_000642.3(AGL):c.847-15_847-14del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign

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