5257[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 150305	GRCh38/hg38 16q12.1(chr16:47193875-47612192)x1	ITFG1, LOC112449713 +4 more	Copy number loss	See cases	GUncertain significance
Select item 154127	GRCh38/hg38 16q12.1(chr16:47224376-47628637)x1	ITFG1, LOC112449713 +4 more	Copy number loss	See cases	GLikely benign
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 154519	GRCh38/hg38 16q12.1(chr16:47320682-47525728)x1	ITFG1, LOC112449713 +3 more	Copy number loss	See cases	GUncertain significance
Select item 384782	NM_000293.2(PHKB):c.-45A>G	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511596	NM_000293.3(PHKB):c.-8G>C	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	PHKB-related condition +1 more	GLikely benign
Select item 2197517	NM_000293.3(PHKB):c.1A>G (p.Met1Val)	LOC130058947, PHKB (M1V)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2809172	NM_000293.3(PHKB):c.6G>C (p.Ala2=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2097794	NM_000293.3(PHKB):c.10del (p.Ala4fs)	LOC130058947, PHKB (A4fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 2075807	NM_000293.3(PHKB):c.6G>T (p.Ala2=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 887974	NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)	LOC130058947, PHKB (G3A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2044921	NM_000293.3(PHKB):c.12G>C (p.Ala4=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 1356277	NM_000293.3(PHKB):c.14C>T (p.Ala5Val)	LOC130058947, PHKB (A5V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 2063999	NM_000293.3(PHKB):c.16G>A (p.Gly6Arg)	LOC130058947, PHKB (G6R)	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 2725892	NM_000293.3(PHKB):c.18A>T (p.Gly6=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2163239	NM_000293.3(PHKB):c.21C>T (p.Leu7=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 731639	NM_000293.3(PHKB):c.24G>A (p.Thr8=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2198378	NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)	LOC130058947, PHKB (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2903350	NM_000293.3(PHKB):c.27A>C (p.Ala9=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2186950	NM_000293.3(PHKB):c.27A>G (p.Ala9=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 887975	NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)	LOC130058947, PHKB (E10D)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GConflicting classifications of pathogenicity
Select item 1436858	NM_000293.3(PHKB):c.31G>A (p.Val11Met)	LOC130058947, PHKB (V11M)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 2844967	NM_000293.3(PHKB):c.38G>A (p.Trp13Ter)	LOC130058947, PHKB (W13*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 530957	NM_000293.3(PHKB):c.39G>A (p.Trp13Ter)	LOC130058947, PHKB (W13*)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1948402	NM_000293.3(PHKB):c.42G>A (p.Lys14=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2898934	NM_000293.3(PHKB):c.45C>T (p.Val15=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 1949886	NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)	LOC130058947, PHKB (R21P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2834089	NM_000293.3(PHKB):c.66C>T (p.Thr22=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2791519	NM_000293.3(PHKB):c.72C>T (p.Arg24=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 1804673	NM_000293.3(PHKB):c.76+1G>C	LOC130058947, PHKB	Single nucleotide variant (splice donor variant)	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 632254	NM_000293.3(PHKB):c.76+2T>C	LOC130058947, PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2800029	NM_000293.3(PHKB):c.76+4T>G	LOC130058947, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2796462	NM_000293.3(PHKB):c.76+8T>A	LOC130058947, 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 2180032	NM_000293.3(PHKB):c.76+15G>T	LOC130058947, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
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 (intron 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)	PHKB-related condition +1 more	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 (synonymous 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 221521	GRCh38/hg38 16q12.1(chr16:47497444-48230506)x1	ABCC11, ABCC12 +14 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
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 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 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)	Glycogen storage disease IXb +1 more	GUncertain significance
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 1913061	NM_000293.3(PHKB):c.167-8A>T	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 1949460	NM_000293.3(PHKB):c.167-4G>T	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2715371	NC_000016.10:g.47499755GTCAA[1]	LOC112449713, PHKB	Microsatellite	Glycogen storage disease IXb	GPathogenic
Select item 2866098	NM_000293.3(PHKB):c.174A>T (p.Ser58=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2065727	NM_000293.3(PHKB):c.178T>G (p.Leu60Val)	LOC112449713, PHKB (L53V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2876751	NM_000293.3(PHKB):c.180G>A (p.Leu60=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 887976	NM_000293.3(PHKB):c.185T>C (p.Leu62Pro)	LOC112449713, PHKB (L55P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2199136	NM_000293.3(PHKB):c.186G>C (p.Leu62=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2195662	NM_000293.3(PHKB):c.186G>A (p.Leu62=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 1309593	NM_000293.3(PHKB):c.191A>G (p.Gln64Arg)	LOC112449713, PHKB (Q57R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861719	NM_000293.3(PHKB):c.198A>C (p.Pro66=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 522767	NM_000293.3(PHKB):c.203C>T (p.Thr68Ile)	LOC112449713, PHKB (T68I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2162571	NM_000293.3(PHKB):c.204C>G (p.Thr68=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 319328	NM_000293.3(PHKB):c.204C>T (p.Thr68=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen phosphorylase kinase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1939992	NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)	LOC112449713, PHKB (G62S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2181428	NM_000293.3(PHKB):c.211T>G (p.Phe71Val)	LOC112449713, PHKB (F64V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1982736	NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)	PHKB, LOC112449713 (T66A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2101368	NM_000293.3(PHKB):c.219T>C (p.Thr73=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2696578	NM_000293.3(PHKB):c.225A>C (p.Thr75=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2152456	NM_000293.3(PHKB):c.228C>T (p.Cys76=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 1346469	NM_000293.3(PHKB):c.229G>A (p.Gly77Ser)	LOC112449713, PHKB (G70S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2860680	NM_000293.3(PHKB):c.234T>C (p.Gly78=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 319329	NM_000293.3(PHKB):c.239A>G (p.Gln80Arg)	LOC112449713, PHKB (Q80R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance

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