ClinVar for Gene (Select 5213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305902	NM_000289.6(PFKM):c.2077G>A (p.Glu693Lys)	PFKM (E651K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305901	NM_000289.6(PFKM):c.1542G>C (p.Gln514His)	PFKM (Q464H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305900	NM_000289.6(PFKM):c.2320C>T (p.Arg774Trp)	PFKM (R732W +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244373	NC_000012.11:g.(?_48238529)_(48539491_?)del	COL2A1, PFKM +3 more	Deletion	not provided	GPathogenic
Select item 3244230	NC_000012.11:g.(?_48535509)_(48538245_?)del	PFKM	Deletion	Glycogen storage disease, type VII	GPathogenic
Select item 3240112	NM_000289.6(PFKM):c.420del (p.Ala142fs)	PFKM (A113fs +6 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240111	NM_000289.6(PFKM):c.1459_1463del (p.Thr486_Lys487insTer)	PFKM	Deletion (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240109	NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)	PFKM (Q104* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240108	NM_000289.6(PFKM):c.85+1G>A	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240107	NM_000289.6(PFKM):c.1614dup (p.Ser539fs)	PFKM (S489fs +8 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240106	NM_000289.6(PFKM):c.1042del (p.Leu348fs)	PFKM (L298fs +7 more)	Deletion (frameshift variant +2 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3211591	NM_000289.6(PFKM):c.98C>T (p.Ala33Val)	PFKM (A81V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067697	NM_000289.6(PFKM):c.1035C>A (p.Arg345=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3061532	NM_000289.6(PFKM):c.485T>C (p.Val162Ala)	PFKM (V112A +6 more)	Single nucleotide variant (missense variant +1 more)	PFKM-related disorder	GUncertain significance
Select item 3059478	NM_000289.6(PFKM):c.843+5G>A	PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	PFKM-related disorder	GLikely benign
Select item 3055154	NM_000289.6(PFKM):c.1413-56G>A	PFKM	Single nucleotide variant (intron variant)	PFKM-related disorder	GLikely benign
Select item 3053121	NM_000289.6(PFKM):c.-8-4C>T	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	PFKM-related disorder	GLikely benign
Select item 3048855	NM_001354735.1(PFKM):c.205+10G>A	PFKM	Single nucleotide variant (intron variant)	PFKM-related disorder	GLikely benign
Select item 3036813	NM_001354735.1(PFKM):c.180G>T (p.Val60=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	PFKM-related disorder	GLikely benign
Select item 3032613	NM_000289.6(PFKM):c.744C>T (p.Ser248=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	PFKM-related disorder	GLikely benign
Select item 3030778	NM_000289.6(PFKM):c.1191+4C>T	PFKM	Single nucleotide variant (intron variant)	PFKM-related disorder	GLikely benign
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 (non-coding transcript 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

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