ClinVar for MedGen (Select 442778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065968	NM_000294.3(PHKG2):c.166del (p.Glu56fs)	PHKG2 (E56fs)	Deletion (frameshift variant)	Glycogen storage disease IXc	GLikely pathogenic
Select item 3065817	NM_000294.3(PHKG2):c.348dup (p.Asp117Ter)	PHKG2 (D117*)	Duplication (nonsense)	Glycogen storage disease IXc	GUncertain significance
Select item 3023073	NM_000294.3(PHKG2):c.928-20C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3022900	NM_000294.3(PHKG2):c.177T>C (p.Ala59=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 3022885	NM_000294.3(PHKG2):c.1191T>C (p.Thr397=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 3022767	NM_000294.3(PHKG2):c.468C>T (p.Pro156=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 3019341	NM_000294.3(PHKG2):c.543C>A (p.Gly181=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 3014769	NM_000294.3(PHKG2):c.1032G>T (p.Arg344=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 3013760	NM_000294.3(PHKG2):c.556+14G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3013652	NM_000294.3(PHKG2):c.648-4C>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3013402	NM_000294.3(PHKG2):c.557-20T>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3010838	NM_000294.3(PHKG2):c.114C>G (p.Val38=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 3008427	NM_000294.3(PHKG2):c.327-7C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3006233	NM_000294.3(PHKG2):c.801+13T>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3005863	NM_000294.3(PHKG2):c.392+19G>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 3003691	NM_000294.3(PHKG2):c.51C>T (p.Ala17=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 3000582	NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)	PHKG2 (Q284*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXc	GPathogenic
Select item 3000014	NM_000294.3(PHKG2):c.9G>A (p.Leu3=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2999338	NM_000294.3(PHKG2):c.272-9T>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2995156	NM_000294.3(PHKG2):c.276C>T (p.Thr92=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2994354	NM_000294.3(PHKG2):c.928-5C>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2992004	NM_000294.3(PHKG2):c.369G>T (p.Val123=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2991672	NM_000294.3(PHKG2):c.1113G>A (p.Ala371=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2990166	NM_000294.3(PHKG2):c.271+19C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2987840	NM_000294.3(PHKG2):c.802-11G>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2986377	NM_000294.3(PHKG2):c.1074C>T (p.Tyr358=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2984186	NM_000294.3(PHKG2):c.48C>T (p.Ala16=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2983828	NM_000294.3(PHKG2):c.831G>A (p.Glu277=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2979560	NM_000294.3(PHKG2):c.705C>T (p.His235=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2978320	NM_000294.3(PHKG2):c.6G>T (p.Thr2=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2977447	NM_000294.3(PHKG2):c.1149C>G (p.Pro383=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2975698	NM_000294.3(PHKG2):c.928-16C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2971621	NM_000294.3(PHKG2):c.7C>T (p.Leu3=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2970534	NM_000294.3(PHKG2):c.1134C>T (p.Pro378=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2969765	NM_000294.3(PHKG2):c.927+19G>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2969442	NM_000294.3(PHKG2):c.720G>A (p.Leu240=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2963764	NM_000294.3(PHKG2):c.879T>C (p.Arg293=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2963433	NM_000294.3(PHKG2):c.1095G>A (p.Gly365=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2963228	NM_000294.3(PHKG2):c.802-10T>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2962605	NM_000294.3(PHKG2):c.531C>T (p.His177=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2958925	NM_000294.3(PHKG2):c.95+15A>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2957819	NM_000294.3(PHKG2):c.1215G>A (p.Leu405=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2956233	NM_000294.3(PHKG2):c.392+7G>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2955078	NM_000294.3(PHKG2):c.273C>T (p.Ile91=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2919939	NM_000294.3(PHKG2):c.801+14G>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2919481	NM_000294.3(PHKG2):c.1206G>T (p.Val402=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2918875	NM_000294.3(PHKG2):c.1008G>T (p.Leu336=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2918335	NM_000294.3(PHKG2):c.264C>G (p.Pro88=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2916926	NM_000294.3(PHKG2):c.357C>G (p.Leu119=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2916757	NM_000294.3(PHKG2):c.642C>T (p.Val214=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2914643	NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)	PHKG2 (V38I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 2914631	NM_000294.3(PHKG2):c.255C>T (p.Ala85=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2913762	NM_000294.3(PHKG2):c.252C>T (p.Val84=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2909917	NM_000294.3(PHKG2):c.801+7G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2909144	NM_000294.3(PHKG2):c.786C>T (p.Ser262=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2907432	NM_000294.3(PHKG2):c.519G>T (p.Gly173=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2905350	NM_000294.3(PHKG2):c.801+20del	PHKG2	Deletion (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2904692	NM_000294.3(PHKG2):c.928-13C>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2903475	NM_000294.3(PHKG2):c.18G>T (p.Gly6=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2903425	NM_000294.3(PHKG2):c.1053C>T (p.Asp351=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2901330	NM_000294.3(PHKG2):c.855C>A (p.Ala285=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2897816	NM_000294.3(PHKG2):c.392+13C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2893493	NM_000294.3(PHKG2):c.454C>A (p.Arg152=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2893026	NM_000294.3(PHKG2):c.928-13C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2891478	NM_000294.3(PHKG2):c.1002T>C (p.Asn334=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2887272	NM_000294.3(PHKG2):c.948G>C (p.Leu316=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2884777	NM_000294.3(PHKG2):c.801+17A>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2884232	NM_000294.3(PHKG2):c.918G>A (p.Gln306=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2883222	NM_000294.3(PHKG2):c.96-14T>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2882266	NM_000294.3(PHKG2):c.576G>A (p.Gly192=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2881349	NM_000294.3(PHKG2):c.802-13G>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2880473	NM_000294.3(PHKG2):c.272-15T>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2880345	NM_000294.3(PHKG2):c.594C>T (p.Ile198=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2879157	NM_000294.3(PHKG2):c.1044C>T (p.His348=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2878607	NM_000294.3(PHKG2):c.627C>T (p.Gly209=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2877606	NM_000294.3(PHKG2):c.326+15G>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2877506	NM_000294.3(PHKG2):c.72C>T (p.Tyr24=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2875347	NM_000294.3(PHKG2):c.867C>G (p.Pro289=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2870719	NM_000294.3(PHKG2):c.813G>A (p.Leu271=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2868351	NM_000294.3(PHKG2):c.1170G>A (p.Glu390=)	PHKG2	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXc	GLikely benign
Select item 2865280	NM_000294.3(PHKG2):c.114C>T (p.Val38=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2864711	NM_000294.3(PHKG2):c.138T>G (p.Thr46=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2862845	NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)	PHKG2 (Y24*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXc	GPathogenic
Select item 2860425	NM_000294.3(PHKG2):c.492T>C (p.Asn164=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2860114	NM_000294.3(PHKG2):c.96-12C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2855817	NM_000294.3(PHKG2):c.327-17G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2854909	NM_000294.3(PHKG2):c.756C>T (p.Phe252=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2849142	NM_000294.3(PHKG2):c.801+15A>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2848537	NM_000294.3(PHKG2):c.801+11G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2848054	NM_000294.3(PHKG2):c.647+20C>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2846915	NM_000294.3(PHKG2):c.272-18C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2843422	NM_000294.3(PHKG2):c.993G>A (p.Leu331=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2838470	NM_000294.3(PHKG2):c.556+18C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2834807	NM_000294.3(PHKG2):c.189T>C (p.Ser63=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2834443	NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)	PHKG2 (K18fs)	Deletion (frameshift variant)	Glycogen storage disease IXc	GPathogenic
Select item 2832986	NM_000294.3(PHKG2):c.927+15A>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2832978	NM_000294.3(PHKG2):c.156G>A (p.Val52=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2830491	NM_000294.3(PHKG2):c.1017C>T (p.Asp339=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2828458	NM_000294.3(PHKG2):c.459T>C (p.Asp153=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2826899	NM_000294.3(PHKG2):c.336G>A (p.Lys112=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign

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