ClinVar for MedGen (Select 468559) - ClinVar

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Items: 45

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25010641.	NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter) GRCh37: Chr16:47727362 GRCh38: Chr16:47693451	PHKB	Q940, Q947	Glycogen phosphorylase kinase deficiency	Pathogenic (Mar 7, 2023)	criteria provided, single submitter
Select item 24458692.	NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp) GRCh37: Chr16:30768034 GRCh38: Chr16:30756713	PHKG2	R309W	Glycogen phosphorylase kinase deficiency	Likely pathogenic (Feb 16, 2023)	criteria provided, single submitter
Select item 24291393.	NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del GRCh37: Chr16:47623014-47644736	PHKB		Glycogen phosphorylase kinase deficiency	Likely pathogenic (Jan 18, 2023)	criteria provided, single submitter
Select item 18048724.	NM_002637.4(PHKA1):c.3244-155_3618del GRCh37: ChrX:71800906-71804307 GRCh38: ChrX:72581056-72584457	PHKA1		Glycogen phosphorylase kinase deficiency	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 18046735.	NM_000293.3(PHKB):c.76+1G>C GRCh37: Chr16:47495338 GRCh38: Chr16:47461427	PHKB		Glycogen phosphorylase kinase deficiency	Likely pathogenic (Nov 8, 2022)	criteria provided, single submitter
Select item 18046716.	NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter) GRCh37: Chr16:47703321 GRCh38: Chr16:47669410	PHKB	R868, R875	Glycogen phosphorylase kinase deficiency	Likely pathogenic (Nov 8, 2022)	criteria provided, single submitter
Select item 17233857.	NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del GRCh37: Chr16:47495338-47549431	PHKB		Glycogen phosphorylase kinase deficiency	Likely pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 16985398.	NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg) GRCh37: ChrX:18924924 GRCh38: ChrX:18906806	PHKA2	P869R	Glycogen phosphorylase kinase deficiency	Likely pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 14241359.	NM_000293.3(PHKB):c.2427+965A>C GRCh37: Chr16:47699851 GRCh38: Chr16:47665940	PHKB		Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb	Pathogenic/Likely pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132898610.	NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del GRCh37: Chr16:47495338-47614205	PHKB		Glycogen phosphorylase kinase deficiency	Likely pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 132145611.	NM_000292.3(PHKA2):c.3058-1G>A GRCh37: ChrX:18917345 GRCh38: ChrX:18899227	PHKA2		Glycogen phosphorylase kinase deficiency	Likely pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 65385612.	NM_002637.4(PHKA1):c.2527-1G>T GRCh37: ChrX:71829554 GRCh38: ChrX:72609704	PHKA1		Glycogen storage disease IXd, Glycogen phosphorylase kinase deficiency	Likely pathogenic (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62052613.	NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) GRCh37: Chr16:47697635 GRCh38: Chr16:47663724	PHKB	Q776, Q769	Glycogen phosphorylase kinase deficiency, not provided, Glycogen storage disease IXb	Pathogenic/Likely pathogenic (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44094414.	NM_000292.3(PHKA2):c.2137+5G>A GRCh37: ChrX:18936794 GRCh38: ChrX:18918676	PHKA2		not provided	Uncertain significance (Oct 30, 2019)	criteria provided, single submitter
Select item 42694015.	NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) GRCh37: Chr16:47536903 GRCh38: Chr16:47502992	PHKB	R103, R96	Glycogen phosphorylase kinase deficiency, not provided	Pathogenic/Likely pathogenic (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36863816.	NM_002637.4(PHKA1):c.*625CT[2] GRCh37: ChrX:71800222-71800223 GRCh38: ChrX:72580372-72580373	PHKA1		Glycogen phosphorylase kinase deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36863517.	NM_002637.4(PHKA1):c.*1241GT[11] GRCh37: ChrX:71799588-71799589 GRCh38: ChrX:72579738-72579739	PHKA1		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36863418.	NM_002637.4(PHKA1):c.*1241GT[14] GRCh37: ChrX:71799587-71799588 GRCh38: ChrX:72579737-72579738	PHKA1		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36863319.	NM_002637.4(PHKA1):c.*1241GT[13] GRCh37: ChrX:71799587-71799588 GRCh38: ChrX:72579737-72579738	PHKA1		Glycogen phosphorylase kinase deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31938420.	NM_000293.3(PHKB):c.*1311dup GRCh37: Chr16:47734578-47734579 GRCh38: Chr16:47700667-47700668	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31938121.	NM_000293.3(PHKB):c.*1001del GRCh37: Chr16:47734278 GRCh38: Chr16:47700367	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31938022.	NM_000293.3(PHKB):c.*1000del GRCh37: Chr16:47734260 GRCh38: Chr16:47700349	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31937923.	NM_000293.3(PHKB):c.*982del GRCh37: Chr16:47734259 GRCh38: Chr16:47700348	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31937524.	NM_000293.3(PHKB):c.*610TA[1] GRCh37: Chr16:47733886-47733887 GRCh38: Chr16:47699975-47699976	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31937225.	NM_000293.3(PHKB):c.358_360del GRCh37: Chr16:47733634-47733636 GRCh38: Chr16:47699723-47699725	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31936426.	NM_000293.3(PHKB):c.3144+32_3144+34dup GRCh37: Chr16:47732512-47732513 GRCh38: Chr16:47698601-47698602	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31936327.	NM_000293.3(PHKB):c.3144+34dup GRCh37: Chr16:47732512-47732513 GRCh38: Chr16:47698601-47698602	PHKB		Glycogen phosphorylase kinase deficiency, not provided	Benign (Jun 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31936228.	NM_000293.3(PHKB):c.3144+12_3144+13insT GRCh37: Chr16:47732511-47732512 GRCh38: Chr16:47698600-47698601	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31936129.	NM_000293.3(PHKB):c.3144+12dup GRCh37: Chr16:47732510-47732511 GRCh38: Chr16:47698599-47698600	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31932830.	NM_000293.3(PHKB):c.204C>T (p.Thr68=) GRCh37: Chr16:47533704 GRCh38: Chr16:47499793	LOC112449713, PHKB		Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 31932731.	NM_000293.3(PHKB):c.77-7del GRCh37: Chr16:47531303 GRCh38: Chr16:47497392	PHKB		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31895232.	NM_001014979.3(CFAP119):c.236+113A>G GRCh37: Chr16:30772406 GRCh38: Chr16:30761085	CFAP119, LOC126862330, PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31895133.	NM_001014979.3(CFAP119):c.236+222T>C GRCh37: Chr16:30772297 GRCh38: Chr16:30760976	CFAP119, LOC126862330, PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31895034.	NM_001014979.3(CFAP119):c.512C>T (p.Thr171Ile) GRCh37: Chr16:30771003 GRCh38: Chr16:30759682	CFAP119, PHKG2	T171I	Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31894935.	NM_001014979.3(CFAP119):c.540+18A>G GRCh37: Chr16:30770957 GRCh38: Chr16:30759636	CFAP119, PHKG2		Glycogen phosphorylase kinase deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31894836.	NM_001014979.3(CFAP119):c.658-4C>T GRCh37: Chr16:30770572 GRCh38: Chr16:30759251	CFAP119, PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31894737.	NM_001014979.3(CFAP119):c.818-578G>A GRCh37: Chr16:30769553 GRCh38: Chr16:30758232	CFAP119, PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31894638.	NM_001014979.3(CFAP119):c.818-289T>C GRCh37: Chr16:30769264 GRCh38: Chr16:30757943	CFAP119, PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31894539.	NM_001014979.3(CFAP119):c.818-33C>T GRCh37: Chr16:30769008 GRCh38: Chr16:30757687	CFAP119, PHKG2		Glycogen phosphorylase kinase deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31894440.	NM_001014979.3(CFAP119):c.829G>A (p.Val277Ile) GRCh37: Chr16:30768964 GRCh38: Chr16:30757643	CFAP119, PHKG2	V277I	Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31894341.	NM_000294.3(PHKG2):c.*211C>T GRCh37: Chr16:30768629 GRCh38: Chr16:30757308	PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31893942.	NM_000294.3(PHKG2):c.556+4_556+5dup GRCh37: Chr16:30764880-30764881 GRCh38: Chr16:30753559-30753560	PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31893243.	NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) GRCh37: Chr16:30760224 GRCh38: Chr16:30748903	PHKG2	D28V	Glycogen storage disease IXc, Glycogen phosphorylase kinase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31892944.	NM_000294.3(PHKG2):c.-70C>T GRCh37: Chr16:30759760 GRCh38: Chr16:30748439	PHKG2		Glycogen phosphorylase kinase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 25717645.	NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) GRCh37: Chr16:47703150-47703152 GRCh38: Chr16:47669239-47669241	PHKB	E813del, E820del	Glycogen phosphorylase kinase deficiency, not specified, not provided, Glycogen storage disease IXb	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 45