ClinVar for MedGen (Select 5342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023495	NM_000289.6(PFKM):c.1062+20C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3022079	NM_000289.6(PFKM):c.1818+13C>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3021889	NM_000289.6(PFKM):c.593+12T>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3019294	NM_000289.6(PFKM):c.238-20G>A	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 3018355	NM_000289.6(PFKM):c.844-11G>T	PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 3012054	NM_000289.6(PFKM):c.1807C>A (p.Arg603=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 3010335	NM_000289.6(PFKM):c.1500+14A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3009115	NM_000289.6(PFKM):c.748-18C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3008038	NM_000289.6(PFKM):c.1791G>A (p.Glu597=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 3007855	NM_000289.6(PFKM):c.747+8C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3006600	NM_000289.6(PFKM):c.2198+9A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3005625	NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 3003829	NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)	PFKM (K456* +8 more)	Duplication (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic
Select item 3003788	NM_000289.6(PFKM):c.159+11T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3002597	NM_000289.6(PFKM):c.1080G>A (p.Lys360=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2999532	NM_000289.6(PFKM):c.593+18G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2998474	NM_000289.6(PFKM):c.765T>G (p.Ser255=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2997970	NM_000289.6(PFKM):c.1653+12T>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2996311	NM_000289.6(PFKM):c.159+16T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2995650	NM_000289.6(PFKM):c.1412+2T>C	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2995251	NM_000289.6(PFKM):c.1191+11G>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2994683	NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)	PFKM (K107N +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2994437	NM_000289.6(PFKM):c.747+7_747+12del	PFKM	Deletion (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2991874	NM_000289.6(PFKM):c.1947G>A (p.Lys649=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2991746	NM_000289.6(PFKM):c.594-13C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2991350	NM_000289.6(PFKM):c.427+17A>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2989617	NM_000289.6(PFKM):c.937-18T>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2988414	NM_000289.6(PFKM):c.428-20G>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2988413	NM_000289.6(PFKM):c.594-18T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2986320	NM_000289.6(PFKM):c.1192-12C>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2986051	NM_000289.6(PFKM):c.1412+17A>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2985745	NM_000289.6(PFKM):c.2190A>T (p.Thr730=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2982290	NM_000289.6(PFKM):c.1128-17A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2978921	NM_000289.6(PFKM):c.2007C>A (p.Thr669=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2978649	NM_000289.6(PFKM):c.594-16T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2977439	NM_000289.6(PFKM):c.2262G>A (p.Lys754=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2976089	NM_000289.6(PFKM):c.1992+13C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2972030	NM_000289.6(PFKM):c.1407T>C (p.Thr469=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2971041	NM_000289.6(PFKM):c.594-17A>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2968546	NM_000289.6(PFKM):c.1342-8C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2961356	NM_000289.6(PFKM):c.2064T>G (p.Ser688=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2954568	NM_000289.6(PFKM):c.160-16A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2921233	NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)	PFKM (R155W +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2920281	NM_000289.6(PFKM):c.1818+15A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2919328	NM_000289.6(PFKM):c.1127+10T>A	PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2919148	NM_000289.6(PFKM):c.86-14G>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2918064	NM_000289.6(PFKM):c.937-13T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2917927	NM_000289.6(PFKM):c.1392C>T (p.Gly464=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2917426	NM_000289.6(PFKM):c.1992+17A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2916405	NM_000289.6(PFKM):c.1063-5dup	PFKM	Duplication (intron variant)	Glycogen storage disease, type VII	GBenign
Select item 2913544	NM_000289.6(PFKM):c.943A>C (p.Arg315=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2912729	NM_000289.6(PFKM):c.1993-16A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2912509	NM_000289.6(PFKM):c.1412+11C>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2912223	NM_000289.6(PFKM):c.160-13A>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2911301	NM_000289.6(PFKM):c.1842A>G (p.Gln614=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2909991	NM_000289.6(PFKM):c.594-12dup	PFKM	Duplication (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2909643	NM_000289.6(PFKM):c.2092+18G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2908235	NM_000289.6(PFKM):c.593+15G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2906324	NM_000289.6(PFKM):c.1128-15T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2904871	NM_000289.6(PFKM):c.748-19A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2901901	NM_000289.6(PFKM):c.103dup (p.Arg35fs)	PFKM (R83fs +5 more)	Duplication (frameshift variant +2 more)	Glycogen storage disease, type VII	GPathogenic
Select item 2901303	NM_000289.6(PFKM):c.1412+14C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2900358	NM_000289.6(PFKM):c.2199-16C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2900191	NM_000289.6(PFKM):c.237+17T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2899564	NM_000289.6(PFKM):c.1192-11C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2898892	NM_000289.6(PFKM):c.1992+15G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2897293	NM_000289.6(PFKM):c.85+13G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2895481	NM_000289.6(PFKM):c.2313C>T (p.Thr771=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2891452	NM_000289.6(PFKM):c.156T>C (p.His52=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2890410	NM_000289.6(PFKM):c.594-19A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2890107	NM_000289.6(PFKM):c.2092+2T>C	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2889374	NM_000289.6(PFKM):c.1962C>T (p.Ser654=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2888848	NM_000289.6(PFKM):c.1062G>T (p.Val354=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2888838	NM_000289.6(PFKM):c.85+16del	PFKM	Deletion (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2888338	NM_000289.6(PFKM):c.594-17_594-16del	PFKM	Microsatellite (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2887775	NM_000289.6(PFKM):c.1342-13C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2887773	NM_000289.6(PFKM):c.238-13A>G	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2887384	NM_000289.6(PFKM):c.1412+20C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2886410	NM_000289.6(PFKM):c.1413-16A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2886248	NM_000289.6(PFKM):c.2198+9A>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2886206	NM_000289.6(PFKM):c.1654-20A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2883262	NM_000289.6(PFKM):c.1128-16T>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2882818	NM_000289.6(PFKM):c.159+14T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2880996	NM_000289.6(PFKM):c.1797C>T (p.Pro599=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2878378	NM_000289.6(PFKM):c.639-17T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2876908	NM_000289.6(PFKM):c.1063-20T>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2875751	NM_000289.6(PFKM):c.2133G>A (p.Leu711=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2875724	NM_000289.6(PFKM):c.638+1G>T	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2874727	NM_000289.6(PFKM):c.9T>C (p.His3=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2874396	NM_000289.6(PFKM):c.1818+17del	PFKM	Deletion (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2872436	NM_000289.6(PFKM):c.942C>T (p.Ser314=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2867945	NM_000289.6(PFKM):c.2046G>A (p.Lys682=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2867416	NM_000289.6(PFKM):c.2124C>G (p.Gly708=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2867404	NM_000289.6(PFKM):c.2283T>C (p.Thr761=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2866094	NM_000289.6(PFKM):c.2199-8C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2865837	NM_000289.6(PFKM):c.1653+15C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2865264	NM_000289.6(PFKM):c.768T>C (p.Arg256=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2864713	NM_000289.6(PFKM):c.639-7A>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2864165	NM_000289.6(PFKM):c.1128-2A>G	PFKM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2863235	NM_000289.6(PFKM):c.1077C>T (p.Thr359=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign

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