ClinVar for MedGen (Select 6641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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
Select item 2909067	NM_000642.3(AGL):c.3259+18A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2909059	NM_000642.3(AGL):c.3192_3197delinsTTCACCTA (p.Met1064fs)	AGL (M1064fs +1 more)	Indel (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2908980	NM_000642.3(AGL):c.3588+20T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2906321	NM_000642.3(AGL):c.1185+7C>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2905957	NM_000642.3(AGL):c.2919G>A (p.Arg973=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2905782	NM_000642.3(AGL):c.3701-14_3701-10del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2905604	NM_000642.3(AGL):c.3259+13G>T	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2905272	NM_000642.3(AGL):c.2434-19T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2903851	NM_000642.3(AGL):c.2498A>C (p.Gln833Pro)	AGL (Q707P +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2899763	NM_000642.3(AGL):c.3836+14T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2899362	NM_000642.3(AGL):c.4260-18A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2899051	NM_000642.3(AGL):c.4259+15A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2898760	NM_000642.3(AGL):c.460+24del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GBenign
Select item 2897757	NM_000642.3(AGL):c.1736-14G>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2897619	NM_000642.3(AGL):c.2001+11A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 2897454	NM_000642.3(AGL):c.2493T>C (p.Tyr831=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2893902	NM_000642.3(AGL):c.2196A>C (p.Val732=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2892866	NM_000642.3(AGL):c.2790C>T (p.Ala930=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 2891903	NM_000642.3(AGL):c.1413_1416del (p.Phe471fs)	AGL (F455fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2891504	NM_000642.3(AGL):c.2167_2179del (p.Asp723fs)	AGL (D707fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2890512	NM_000642.3(AGL):c.1822T>G (p.Cys608Gly)	AGL (C482G +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2888810	NM_000642.3(AGL):c.2433+18C>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GLikely benign

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