5261[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	RUSF1-DT, SETD1A +136 more	Copy number gain	See cases	GPathogenic
Select item 1270428	NC_000016.10:g.30748227C>T	LOC130058864, PHKG2	Single nucleotide variant	not provided	GBenign
Select item 885327	NM_000294.2(PHKG2):c.-162C>T	LOC130058864, PHKG2	Single nucleotide variant	Glycogen storage disease IXc	GUncertain significance
Select item 886234	NM_000294.2(PHKG2):c.-118G>A	LOC130058864, PHKG2	Single nucleotide variant	Glycogen storage disease IXc	GUncertain significance
Select item 318927	NM_000294.2(PHKG2):c.-114T>C	LOC130058864, PHKG2	Single nucleotide variant	not provided +1 more	GBenign
Select item 318928	NM_000294.2(PHKG2):c.-106G>A	LOC130058864, PHKG2	Single nucleotide variant	Glycogen storage disease IXc	GUncertain significance
Select item 886235	NM_000294.3(PHKG2):c.-76G>C	LOC130058864, PHKG2	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease IXc	GUncertain significance
Select item 318929	NM_000294.3(PHKG2):c.-70C>T	LOC130058864, PHKG2	Single nucleotide variant (5 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 506781	NM_000294.3(PHKG2):c.-28G>A	PHKG2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 318930	NM_000294.3(PHKG2):c.-28G>T	PHKG2	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease IXc +1 more	GConflicting classifications of pathogenicity
Select item 389747	NM_000294.3(PHKG2):c.-21C>G	PHKG2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 886236	NM_000294.3(PHKG2):c.-3A>G	PHKG2	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease IXc	GUncertain significance
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 2971621	NM_000294.3(PHKG2):c.7C>T (p.Leu3=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
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 2330165	NM_000294.3(PHKG2):c.13G>A (p.Val5Met)	PHKG2 (V5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2724503	NM_000294.3(PHKG2):c.21G>C (p.Pro7=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 318931	NM_000294.3(PHKG2):c.21G>A (p.Pro7=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GConflicting classifications of pathogenicity
Select item 947470	NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)	PHKG2 (E8*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXc	GPathogenic
Select item 2778243	NM_000294.3(PHKG2):c.24G>A (p.Glu8=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 255784	NM_000294.3(PHKG2):c.36C>T (p.Pro12=)	PHKG2	Single nucleotide variant (synonymous variant)	not specified	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 3003691	NM_000294.3(PHKG2):c.51C>T (p.Ala17=)	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 646983	NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)	PHKG2 (Y24C)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
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 2862845	NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)	PHKG2 (Y24*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXc	GPathogenic
Select item 318932	NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)	PHKG2 (D28V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc +1 more	GUncertain significance
Select item 318933	NM_000294.3(PHKG2):c.95+11G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GConflicting classifications of pathogenicity
Select item 2769191	NM_000294.3(PHKG2):c.95+12G>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 2750455	NM_000294.3(PHKG2):c.95+12G>A	PHKG2	Single nucleotide variant (intron 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 1326713	NM_000294.3(PHKG2):c.95+85GGT[13]	PHKG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1325917	NM_000294.3(PHKG2):c.95+122_95+178del	PHKG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1258051	NM_000294.3(PHKG2):c.95+128_95+178del	PHKG2	Deletion (intron variant)	not provided	GBenign
Select item 1235770	NM_000294.3(PHKG2):c.95+128G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271542	NM_000294.3(PHKG2):c.95+131G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243135	NM_000294.3(PHKG2):c.95+134G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224202	NM_000294.3(PHKG2):c.95+137G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245320	NM_000294.3(PHKG2):c.95+140G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201830	NM_000294.3(PHKG2):c.95+143G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257070	NM_000294.3(PHKG2):c.95+146G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216812	NM_000294.3(PHKG2):c.95+149G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246868	NM_000294.3(PHKG2):c.95+173G>C	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274002	NM_000294.3(PHKG2):c.95+191C>G	PHKG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2780896	NM_000294.3(PHKG2):c.96-18A>G	PHKG2	Single nucleotide variant (intron 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 2860114	NM_000294.3(PHKG2):c.96-12C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 1066974	NM_000294.3(PHKG2):c.96-11G>A	PHKG2	Single nucleotide variant (intron variant)	PHKG2-related condition +1 more	GPathogenic/Likely pathogenic
Select item 255786	NM_000294.3(PHKG2):c.96-10G>T	PHKG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 887237	NM_000294.3(PHKG2):c.96-7C>G	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GConflicting classifications of pathogenicity
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 2819917	NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)	PHKG2 (V38D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
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 2865280	NM_000294.3(PHKG2):c.114C>T (p.Val38=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 871894	NM_000294.3(PHKG2):c.115C>T (p.Arg39Cys)	PHKG2 (R39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143166	NM_000294.3(PHKG2):c.116G>A (p.Arg39His)	PHKG2 (R39H)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 2179049	NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)	PHKG2 (V42I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 943254	NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)	PHKG2 (H43Y)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 13628	NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)	PHKG2 (R44*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2265145	NM_000294.3(PHKG2):c.137C>T (p.Thr46Ile)	PHKG2 (T46I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 887238	NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)	PHKG2 (G47S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 2714768	NM_000294.3(PHKG2):c.144C>T (p.His48=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 1435560	NM_000294.3(PHKG2):c.152C>T (p.Ala51Val)	PHKG2 (A51V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 1537649	NM_000294.3(PHKG2):c.153G>A (p.Ala51=)	PHKG2	Single nucleotide variant (synonymous variant)	PHKG2-related condition +1 more	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 947469	NM_000294.3(PHKG2):c.158_160del (p.Lys53del)	PHKG2 (K53del)	Deletion (inframe_deletion)	Glycogen storage disease IXc	GUncertain significance
Select item 3065968	NM_000294.3(PHKG2):c.166del (p.Glu56fs)	PHKG2 (E56fs)	Deletion (frameshift variant)	Glycogen storage disease IXc	GLikely pathogenic
Select item 255781	NM_000294.3(PHKG2):c.174A>T (p.Thr58=)	PHKG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2568987	NM_000294.3(PHKG2):c.175G>A (p.Ala59Thr)	PHKG2 (A59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2826823	NM_000294.3(PHKG2):c.180G>A (p.Glu60=)	PHKG2	Single nucleotide variant (synonymous 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 762507	NM_000294.3(PHKG2):c.192T>C (p.Pro64=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2771007	NM_000294.3(PHKG2):c.199C>T (p.Leu67=)	PHKG2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXc	GLikely benign
Select item 2671939	NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)	PHKG2 (R71Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 538170	NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys)	PHKG2 (E72K)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 583309	NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)	PHKG2 (R75Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 1453300	NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter)	PHKG2 (R76*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXc	GPathogenic
Select item 647411	NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)	PHKG2 (R76Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998117	NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	PHKG2 (E77K)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GConflicting classifications of pathogenicity
Select item 1714535	NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)	PHKG2 (H79Y)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 662397	NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)	PHKG2 (R82C)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 2146144	NM_000294.3(PHKG2):c.245G>A (p.Arg82His)	PHKG2 (R82H)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 566399	NM_000294.3(PHKG2):c.250del (p.Val84fs)	PHKG2 (V84fs)	Deletion (frameshift variant)	Glycogen storage disease IXc	GPathogenic
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 538171	NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)	PHKG2 (A85T)	Single nucleotide variant (missense variant)	not provided +1 more	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 781205	NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)	PHKG2 (G86S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc +1 more	GConflicting classifications of pathogenicity
Select item 13625	NM_000294.3(PHKG2):c.265dup (p.His89fs)	PHKG2 (H89fs)	Duplication (frameshift variant)	Glycogen storage disease IXc	GPathogenic
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 939224	NM_000294.3(PHKG2):c.271+6G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GUncertain significance
Select item 2739110	NM_000294.3(PHKG2):c.271+12T>C	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign
Select item 318934	NM_000294.3(PHKG2):c.271+14C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GConflicting classifications of pathogenicity
Select item 2990166	NM_000294.3(PHKG2):c.271+19C>T	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GLikely benign

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