PHKB[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2186488	NM_000293.3(PHKB):c.76+18G>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2154543	NM_000293.3(PHKB):c.76+20C>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 2835332	NM_000293.3(PHKB):c.76+2530T>G	PHKB (D6E)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GLikely benign
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 1166692	NM_000293.3(PHKB):c.76+2537G>A	PHKB (V9I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GBenign
Select item 2729905	NM_000293.3(PHKB):c.76+2542T>C	PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2733752	NM_000293.3(PHKB):c.76+2544C>T	PHKB (P11L)	Single nucleotide variant (missense variant +1 more)	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 2185539	NM_000293.3(PHKB):c.76+2551C>T	PHKB	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2872136	NM_000293.3(PHKB):c.76+2562G>C	PHKB (R17T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2739754	NM_000293.3(PHKB):c.76+2568G>A	PHKB	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 1901785	NM_000293.3(PHKB):c.76+2574G>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2918232	NM_000293.3(PHKB):c.76+2575T>G	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 2191773	NM_000293.3(PHKB):c.76+2585C>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2846835	NM_000293.3(PHKB):c.76+2586A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2702896	NM_000293.3(PHKB):c.77-18T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2782802	NM_000293.3(PHKB):c.77-17T>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 2756797	NM_000293.3(PHKB):c.77-8T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 319327	NM_000293.3(PHKB):c.77-7del	PHKB	Deletion (intron variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
Select item 2902677	NM_000293.3(PHKB):c.77-1G>A	PHKB	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 2697311	NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)	PHKB (S20* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXb	GPathogenic
Select item 1978388	NM_000293.3(PHKB):c.80C>T (p.Ser27Leu)	PHKB (S27L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2789445	NM_000293.3(PHKB):c.81A>C (p.Ser27=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2841102	NM_000293.3(PHKB):c.93del (p.Ser34fs)	PHKB (S27fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease IXb	GPathogenic
Select item 1917353	NM_000293.3(PHKB):c.100A>G (p.Ser34Gly)	PHKB (S34G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1971285	NM_000293.3(PHKB):c.105T>C (p.Ile35=)	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 +1 more	GLikely benign
Select item 2917608	NM_000293.3(PHKB):c.126del (p.Asn42fs)	PHKB (N42fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease IXb	GPathogenic
Select item 2694652	NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)	PHKB (E36* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXb	GPathogenic
Select item 3212231	NM_000293.3(PHKB):c.133C>G (p.Leu45Val)	PHKB (L45V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306042	NM_000293.3(PHKB):c.134T>C (p.Leu45Pro)	PHKB (L38P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 493180	NM_000293.3(PHKB):c.134T>A (p.Leu45His)	PHKB (L45H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1643136	NM_000293.3(PHKB):c.306-15A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2121608	NM_000293.3(PHKB):c.306-4C>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 13619	NM_000293.3(PHKB):c.306-2A>G	PHKB	Single nucleotide variant (splice acceptor variant)	Glycogen phosphorylase kinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2762646	NM_000293.3(PHKB):c.307C>A (p.Arg103=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 426940	NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)	PHKB (R103* +1 more)	Single nucleotide variant (nonsense)	Glycogen phosphorylase kinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2183980	NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)	PHKB (R103Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 1715461	NM_000293.3(PHKB):c.308G>T (p.Arg103Leu)	PHKB (R103L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 257178	NM_000293.3(PHKB):c.318T>C (p.Asp106=)	PHKB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2160208	NM_000293.3(PHKB):c.320A>G (p.Asp107Gly)	PHKB (D100G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 514273	NM_000293.3(PHKB):c.321C>T (p.Asp107=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	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 3026105	NM_000293.3(PHKB):c.333C>A (p.Thr111=)	PHKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953419	NM_000293.3(PHKB):c.337G>A (p.Glu113Lys)	PHKB (E106K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2035718	NM_000293.3(PHKB):c.341dup (p.Glu115fs)	PHKB (E115fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease IXb	GPathogenic
Select item 13622	NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)	PHKB (A118P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 959062	NM_000293.3(PHKB):c.365T>C (p.Met122Thr)	PHKB (M122T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2692944	NM_000293.3(PHKB):c.369_370del (p.Gly124fs)	PHKB (G117fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease IXb	GPathogenic
Select item 319331	NM_000293.3(PHKB):c.370G>C (p.Gly124Arg)	PHKB (G124R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2164539	NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn)	PHKB (Y120N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2758752	NM_000293.3(PHKB):c.381C>T (p.Tyr127=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 1466704	NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys)	PHKB (Y129C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 319332	NM_000293.3(PHKB):c.391C>T (p.Arg131Cys)	PHKB (R131C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GLikely benign
Select item 2059141	NM_000293.3(PHKB):c.399C>T (p.Ala133=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 319333	NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)	PHKB (D134N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
Select item 2671631	NM_000293.3(PHKB):c.405+1G>T	PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
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 3003380	NM_000293.3(PHKB):c.405+8A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 1054771	NM_000293.3(PHKB):c.405+8_405+10del	PHKB	Deletion (intron variant)	Glycogen storage disease IXb	GUncertain significance
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 2898344	NM_000293.3(PHKB):c.405+9T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2866297	NM_000293.3(PHKB):c.405+10T>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2756923	NM_000293.3(PHKB):c.405+11G>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2863947	NM_000293.3(PHKB):c.405+14G>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 1928913	NM_000293.3(PHKB):c.405+15T>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2828697	NM_000293.3(PHKB):c.405+16G>T	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2188313	NM_000293.3(PHKB):c.405+19G>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 1329547	NM_000293.3(PHKB):c.406-90T>C	PHKB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805521	NM_000293.3(PHKB):c.406-14A>G	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2133177	NM_000293.3(PHKB):c.406G>A (p.Val136Ile)	PHKB (V129I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 319334	NM_000293.3(PHKB):c.430C>T (p.Arg144Cys)	PHKB (R144C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 1353133	NM_000293.3(PHKB):c.431G>A (p.Arg144His)	PHKB (R144H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2875542	NM_000293.3(PHKB):c.432C>T (p.Arg144=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 659474	NM_000293.3(PHKB):c.436A>G (p.Thr146Ala)	PHKB (T139A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2257471	NM_000293.3(PHKB):c.437C>T (p.Thr146Ile)	PHKB (T146I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2133695	NM_000293.3(PHKB):c.438A>G (p.Thr146=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2767912	NM_000293.3(PHKB):c.441A>T (p.Thr147=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 1973338	NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr)	PHKB (C141Y +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2888348	NM_000293.3(PHKB):c.444T>C (p.Cys148=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 884838	NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)	PHKB (L149F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1590017	NM_000293.3(PHKB):c.447T>C (p.Leu149=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2287502	NM_000293.3(PHKB):c.455T>C (p.Val152Ala)	PHKB (V152A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201725	NM_000293.3(PHKB):c.470C>T (p.Thr157Ile)	PHKB (T150I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2904390	NM_000293.3(PHKB):c.474A>G (p.Gly158=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 319335	NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)	PHKB (Y164C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GConflicting classifications of pathogenicity
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 2683363	NM_000293.3(PHKB):c.496G>A (p.Glu166Lys)	PHKB (E159K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 319336	NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)	PHKB (Y167C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2646491	NM_000293.3(PHKB):c.504T>G (p.Gly168=)	PHKB	Single nucleotide variant (synonymous variant)	not provided	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 3013019	NM_000293.3(PHKB):c.513+2T>A	PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
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 2693542	NM_000293.3(PHKB):c.513+14A>T	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

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