ClinVar for MedGen (Select 6641) - ClinVar - NCBI

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	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 3247631	NC_000001.10:g.(?_100316599)_(100459317_?)del	AGL, SLC35A3	Deletion	Glycogen storage disease type III +1 more	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 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 3065542	NM_006796.3(AFG3L2):c.1586C>T (p.Ala529Val)	AFG3L2 (A529V)	Single nucleotide variant (missense 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 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
Select item 2957080	NM_000642.3(AGL):c.2079T>C (p.Asn693=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2955110	NM_000642.3(AGL):c.1735+17G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2920559	NM_000642.3(AGL):c.3949+13T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2919247	NM_000642.3(AGL):c.3362+20G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2918733	NM_000642.3(AGL):c.3836+16T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2918089	NM_000642.3(AGL):c.293+7C>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2917432	NM_000642.3(AGL):c.440_441del (p.Leu147fs)	AGL (L147fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2916747	NM_000642.3(AGL):c.2490A>G (p.Glu830=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2916107	NM_000642.3(AGL):c.3363-7G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2915973	NM_000642.3(AGL):c.847-17C>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2915431	NM_000642.3(AGL):c.4161+15T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2915339	NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)	AGL (Q327* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 2913710	NM_000642.3(AGL):c.2917C>A (p.Arg973=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2912277	NM_000642.3(AGL):c.1832C>A (p.Pro611His)	AGL (P543H +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2910697	NM_000642.3(AGL):c.3550C>A (p.Pro1184Thr)	AGL (P1116T +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2910124	NM_000642.3(AGL):c.206dup (p.Asn69fs)	AGL (N69fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2909401	NM_000642.3(AGL):c.1587C>T (p.His529=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign

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