ClinVar for MedGen (Select 337919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020764	NM_016203.4(PRKAG2):c.755-10T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 3020501	NM_016203.4(PRKAG2):c.396A>G (p.Lys132=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 3019079	NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3017697	NM_016203.4(PRKAG2):c.1107-17A>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 3014801	NM_016203.4(PRKAG2):c.1051+17G>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 3001875	NM_016203.4(PRKAG2):c.1005+13A>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2995664	NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)	PRKAG2 (M45K +1 more)	Single nucleotide variant (missense variant +2 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2989616	NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)	PRKAG2 (R61L +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2980887	NM_016203.4(PRKAG2):c.585T>G (p.Ser195=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2978657	NM_016203.4(PRKAG2):c.904C>A (p.Arg302=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2969880	NM_016203.4(PRKAG2):c.207G>C (p.Pro69=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2965973	NM_016203.4(PRKAG2):c.1051+14G>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2963199	NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)	PRKAG2 (V252L +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2962839	NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)	PRKAG2 (S15F)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2962419	NM_016203.4(PRKAG2):c.273A>T (p.Ala91=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2959849	NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)	LOC129999660, PRKAG2 (A134D +5 more)	Single nucleotide variant (missense variant +2 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2954934	NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)	LOC129999660, PRKAG2 (P193S +5 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2918435	NM_016203.4(PRKAG2):c.466+11G>C	PRKAG2 (L115F)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2917862	NM_016203.4(PRKAG2):c.1005+12C>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2914045	NM_016203.4(PRKAG2):c.1425A>G (p.Lys475=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2913265	NM_016203.4(PRKAG2):c.1399+18T>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2911346	NM_016203.4(PRKAG2):c.754+18G>A	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2908183	NM_016203.4(PRKAG2):c.1006-19A>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2906220	NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)	PRKAG2 (D250G +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2903485	NM_016203.4(PRKAG2):c.1106+14T>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2902216	NM_016203.4(PRKAG2):c.593del (p.Pro198fs)	PRKAG2 (P154fs +3 more)	Deletion (frameshift variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2901911	NM_016203.4(PRKAG2):c.1383T>G (p.Pro461=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2896427	NM_016203.4(PRKAG2):c.1197T>C (p.Leu399=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2891262	NM_016203.4(PRKAG2):c.1234-18C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2891027	NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)	LOC129999660, PRKAG2 (D250N +6 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2890268	NM_016203.4(PRKAG2):c.947-19A>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2887711	NM_016203.4(PRKAG2):c.231C>T (p.Phe77=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2885891	NM_016203.4(PRKAG2):c.1678+11G>T	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2884553	NM_016203.4(PRKAG2):c.864+20A>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2875309	NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)	PRKAG2 (I436V +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2871420	NM_016203.4(PRKAG2):c.684+19G>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2862488	NM_016203.4(PRKAG2):c.492A>G (p.Ser164=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2862263	NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)	PRKAG2 (I188R +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2862203	NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)	PRKAG2 (F43L)	Single nucleotide variant (missense variant +2 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2859319	NM_016203.4(PRKAG2):c.1006-4G>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2857346	NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)	PRKAG2 (M20T +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2855624	NM_016203.4(PRKAG2):c.1107-10TC[4]	PRKAG2	Microsatellite (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2854084	NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)	PRKAG2 (L111P +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2850629	NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)	PRKAG2 (L129F +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2850506	NM_016203.4(PRKAG2):c.1707G>A (p.Glu569=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2850462	NM_016203.4(PRKAG2):c.466+18T>C	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2850387	NM_016203.4(PRKAG2):c.1051+6C>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2840945	NM_016203.4(PRKAG2):c.1399+8T>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2839374	NM_016203.4(PRKAG2):c.467-41_467-18del	PRKAG2	Deletion (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2825334	NM_016203.4(PRKAG2):c.947-15A>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2816775	NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)	PRKAG2 (I282M +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2816450	NM_016203.4(PRKAG2):c.1594C>T (p.Leu532=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2813666	NM_016203.4(PRKAG2):c.946+9T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2812180	NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)	PRKAG2 (D5N +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2810484	NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)	PRKAG2 (N271H +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2804348	NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)	PRKAG2 (I333T +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2797498	NM_016203.4(PRKAG2):c.381C>T (p.Phe127=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2794470	NM_016203.4(PRKAG2):c.1051+10_1051+11del	PRKAG2	Deletion (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2787204	NM_016203.4(PRKAG2):c.864+19C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2784203	NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)	PRKAG2 (P320L +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2782676	NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2780127	NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)	PRKAG2 (F323V +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2778829	NM_016203.4(PRKAG2):c.1200C>G (p.Thr400=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2775515	NM_016203.4(PRKAG2):c.114+13034A>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2774170	NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)	PRKAG2 (S118C +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2772437	NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)	PRKAG2 (I199V +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2771181	NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)	PRKAG2 (Q111E +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2763895	NM_016203.4(PRKAG2):c.685-20_685-18dup	LOC129999660, PRKAG2	Duplication (5 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2755935	NM_016203.4(PRKAG2):c.1437+11T>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2754210	NM_016203.4(PRKAG2):c.388del (p.Ser130fs)	PRKAG2 (S130fs +1 more)	Deletion (frameshift variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2753217	NM_016203.4(PRKAG2):c.947-18T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2751699	NM_016203.4(PRKAG2):c.1584+3G>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2749962	NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)	PRKAG2 (P44L +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2749296	NM_016203.4(PRKAG2):c.755-19T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2747274	NM_016203.4(PRKAG2):c.1464T>C (p.Asn488=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2745337	NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)	PRKAG2 (K194fs +13 more)	Deletion (frameshift variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2744034	NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)	PRKAG2 (Q187* +13 more)	Single nucleotide variant (nonsense)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2741044	NM_016203.4(PRKAG2):c.946+10G>A	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2739941	NM_016203.4(PRKAG2):c.310A>G (p.Thr104Ala)	PRKAG2 (T60A +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2735110	NM_016203.4(PRKAG2):c.47G>C (p.Ser16Thr)	PRKAG2 (S16T)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2735109	NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)	PRKAG2 (E265K +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GPathogenic
Select item 2732783	NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)	PRKAG2 (R139Q +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2732758	NM_016203.4(PRKAG2):c.879C>T (p.Phe293=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2732583	NM_016203.4(PRKAG2):c.1400-18T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2731486	NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)	PRKAG2 (K205R +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2731407	NM_016203.4(PRKAG2):c.1233+17G>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2726292	NM_016203.4(PRKAG2):c.946+15C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2726135	NM_016203.4(PRKAG2):c.186+4A>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2725345	NM_016203.4(PRKAG2):c.467-16G>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2723771	NM_016203.4(PRKAG2):c.115-9C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2718669	NM_016203.4(PRKAG2):c.1551G>A (p.Leu517=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2717916	NM_016203.4(PRKAG2):c.1678+18G>T	PRKAG2 (D325Y +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2716916	NM_016203.4(PRKAG2):c.754+17C>T	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2712100	NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)	LOC129999660, PRKAG2 (E143K +6 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2707772	NM_016203.4(PRKAG2):c.755-18T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2702177	NM_016203.4(PRKAG2):c.754+10C>A	LOC129999660, PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2702176	NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)	PRKAG2 (E9K +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2698986	NM_016203.4(PRKAG2):c.1678+18G>A	PRKAG2 (D325N +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2697890	NM_016203.4(PRKAG2):c.1437+6T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2696759	NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)	PRKAG2 (D271A +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance

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