ClinVar for MedGen (Select 107772) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023582	NM_000293.3(PHKB):c.2427+952C>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3022840	NM_000293.3(PHKB):c.696A>G (p.Thr232=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3021035	NM_000293.3(PHKB):c.3144+9A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3019825	NM_000293.3(PHKB):c.906T>C (p.Tyr302=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3019656	NM_000293.3(PHKB):c.1098C>T (p.Pro366=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3018888	NM_000293.3(PHKB):c.505C>T (p.His169Tyr)	PHKB (H162Y +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 3018767	NM_000293.3(PHKB):c.2765+7A>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3017872	NM_000293.3(PHKB):c.886C>T (p.Leu296=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3017091	NM_000293.3(PHKB):c.807C>T (p.Leu269=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3016674	NM_000293.3(PHKB):c.126T>C (p.Asn42=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3016393	NM_000293.3(PHKB):c.1693-20T>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3015673	NM_000293.3(PHKB):c.2196+19C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3015627	NM_000293.3(PHKB):c.2766-14G>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3015185	NM_000293.3(PHKB):c.77-8dup	PHKB	Duplication (intron variant)	Glycogen storage disease IXb	GBenign
Select item 3014310	NM_000293.3(PHKB):c.1824T>C (p.Tyr608=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3014300	NM_000293.3(PHKB):c.405+9T>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3013862	NM_000293.3(PHKB):c.843G>A (p.Ser281=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3013343	NM_000293.3(PHKB):c.76+2545G>C	PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 3013019	NM_000293.3(PHKB):c.513+2T>A	PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 3012240	NM_000293.3(PHKB):c.2427+1052_2427+1083del	PHKB	Deletion (splice donor variant +1 more)	Glycogen storage disease IXb	GLikely pathogenic
Select item 3011614	NM_000293.3(PHKB):c.2667C>A (p.Ile889=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3010712	NM_000293.3(PHKB):c.711-12T>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3010589	NM_000293.3(PHKB):c.1204+7T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3010568	NM_000293.3(PHKB):c.1380T>C (p.Ser460=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3010522	NM_000293.3(PHKB):c.2196+18C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3010398	NM_000293.3(PHKB):c.1665G>A (p.Arg555=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3009869	NM_000293.3(PHKB):c.1881-10T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3009359	NM_000293.3(PHKB):c.1239A>C (p.Pro413=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3008626	NM_000293.3(PHKB):c.735T>C (p.Ala245=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3008339	NM_000293.3(PHKB):c.2073C>T (p.Pro691=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3007762	NM_000293.3(PHKB):c.405+7C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3004960	NM_000293.3(PHKB):c.1680C>T (p.Leu560=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3004820	NM_000293.3(PHKB):c.710+1G>T	PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 3004681	NM_000293.3(PHKB):c.1126+8A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3004470	NM_000293.3(PHKB):c.1609-2A>C	PHKB	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 3004232	NM_000293.3(PHKB):c.2256C>T (p.Gly752=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3004149	NM_000293.3(PHKB):c.167-8A>G	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003941	NM_000293.3(PHKB):c.636T>C (p.Val212=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003774	NM_000293.3(PHKB):c.594+10C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003729	NM_000293.3(PHKB):c.2337-12T>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003662	NM_000293.3(PHKB):c.2278+16T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003380	NM_000293.3(PHKB):c.405+8A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003180	NM_000293.3(PHKB):c.363C>T (p.Cys121=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3003179	NM_000293.3(PHKB):c.330G>A (p.Arg110=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3001696	NM_000293.3(PHKB):c.2427+996_2427+1000del	PHKB	Deletion (nonsense +1 more)	Glycogen storage disease IXb	GPathogenic
Select item 3001599	NM_000293.3(PHKB):c.2197-18C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 3000657	NM_000293.3(PHKB):c.2046T>C (p.Phe682=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 3000199	NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)	PHKB (Q308* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXb	GPathogenic
Select item 2999523	NM_000293.3(PHKB):c.76+2533A>C	PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2999472	NM_000293.3(PHKB):c.1069-9C>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2998666	NM_000293.3(PHKB):c.1971+19G>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2998565	NM_000293.3(PHKB):c.76+10G>T	PHKB, LOC130058947	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2997866	NM_000293.3(PHKB):c.2427+962C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2997601	NM_000293.3(PHKB):c.1265del (p.Asn422fs)	PHKB (N415fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease IXb	GPathogenic
Select item 2996186	NM_000293.3(PHKB):c.1693-9C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2996059	NM_000293.3(PHKB):c.711-10T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2995896	NM_000293.3(PHKB):c.1459-17del	PHKB	Deletion (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2995400	NM_000293.3(PHKB):c.1609-7C>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2995172	NM_000293.3(PHKB):c.76+2584C>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2995153	NM_000293.3(PHKB):c.1693-4A>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2994019	NM_000293.3(PHKB):c.513+17C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993900	NM_000293.3(PHKB):c.1788T>C (p.Asp596=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993819	NM_000293.3(PHKB):c.2550G>A (p.Gln850=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993710	NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)	PHKB (Y412* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXb	GPathogenic
Select item 2993472	NM_000293.3(PHKB):c.2790C>T (p.Ile930=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993468	NM_000293.3(PHKB):c.513+11A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993382	NM_000293.3(PHKB):c.1929A>G (p.Lys643=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993317	NM_000293.3(PHKB):c.2336+19G>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2993284	NM_000293.3(PHKB):c.306-15A>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2991878	NM_000293.3(PHKB):c.2982G>A (p.Gln994=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2991786	NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)	PHKB (E166* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXb	GPathogenic
Select item 2991405	NM_000293.3(PHKB):c.1126+11T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2990056	NM_000293.3(PHKB):c.1515-17A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2989661	NM_000293.3(PHKB):c.3213G>A (p.Lys1071=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2989471	NM_000293.3(PHKB):c.1609-14C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2989321	NM_000293.3(PHKB):c.1126+2T>C	PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 2989278	NM_000293.3(PHKB):c.871-7C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2989249	NM_000293.3(PHKB):c.76+2527T>A	PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2989242	NM_000293.3(PHKB):c.3144+11A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2989079	NM_000293.3(PHKB):c.2427+990G>A	PHKB (S780N +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2988412	NM_000293.3(PHKB):c.1650T>A (p.Ser550=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2987447	NM_000293.3(PHKB):c.2856G>T (p.Thr952=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2987446	NM_000293.3(PHKB):c.1458+20C>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2986919	NM_000293.3(PHKB):c.2766-5T>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2986068	NM_000293.3(PHKB):c.871-20C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2985737	NM_000293.3(PHKB):c.1204+16T>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2984288	NM_000293.3(PHKB):c.1428A>G (p.Gln476=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2983871	NM_000293.3(PHKB):c.279G>A (p.Gly93=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2983294	NM_000293.3(PHKB):c.2278+11A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2981722	NM_000293.3(PHKB):c.514-12T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2978404	NM_000293.3(PHKB):c.594+9T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2977015	NM_000293.3(PHKB):c.710+14T>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2976359	NM_000293.3(PHKB):c.2427+947G>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2974387	NM_000293.3(PHKB):c.2278+1G>A	PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 2973983	NM_000293.3(PHKB):c.3144+17_3144+18insCT	PHKB	Insertion (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2973007	NM_000293.3(PHKB):c.2631-14C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2971051	NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser)	PHKB (P696S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2970452	NM_000293.3(PHKB):c.2331A>G (p.Lys777=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2969585	NM_000293.3(PHKB):c.1126+1GTAA[3]	PHKB	Microsatellite (splice donor variant)	Glycogen storage disease IXb	GLikely benign
Select item 2968864	NM_000293.3(PHKB):c.2778C>T (p.Asn926=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign

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