ClinVar for MedGen (Select 468559) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691280	NC_000023.10:g.71800926_(71804153_71812953)del	PHKA1	Deletion	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 2501064	NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)	PHKB (Q940* +1 more)	Single nucleotide variant (nonsense)	Glycogen phosphorylase kinase deficiency +1 more	GPathogenic
Select item 2445869	NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)	PHKG2 (R309W)	Single nucleotide variant (missense variant)	Glycogen phosphorylase kinase deficiency +2 more	GLikely pathogenic
Select item 2429139	NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del	PHKB	Deletion	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 1804872	NM_002637.4(PHKA1):c.3244-155_3618del	PHKA1	Deletion (splice acceptor variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
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 1804671	NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)	PHKB (R868* +1 more)	Single nucleotide variant (nonsense)	Glycogen phosphorylase kinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1723385	NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del	PHKB	Deletion	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 1698539	NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg)	PHKA2 (P869R)	Single nucleotide variant (missense variant)	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 1424135	NM_000293.3(PHKB):c.2427+965A>C	PHKB	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease IXb +1 more	GPathogenic/Likely pathogenic
Select item 1328986	NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del	PHKB	Deletion	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 1321456	NM_000292.3(PHKA2):c.3058-1G>A	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 1013871	NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	PHKA2 (R2G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 653856	NM_002637.4(PHKA1):c.2527-1G>T	PHKA1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXd +1 more	GLikely pathogenic
Select item 620526	NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)	PHKB (Q776* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXb +3 more	GPathogenic/Likely pathogenic
Select item 578746	NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)	PHKA1 (R298*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXd +1 more	GPathogenic
Select item 452732	NM_002637.4(PHKA1):c.2606+1G>A	PHKA1	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXd +2 more	GPathogenic/Likely pathogenic
Select item 440944	NM_000292.3(PHKA2):c.2137+5G>A	PHKA2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 368638	NM_002637.4(PHKA1):c.*625CT[2]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GBenign
Select item 368635	NM_002637.4(PHKA1):c.*1241GT[11]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 368634	NM_002637.4(PHKA1):c.*1241GT[14]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 368633	NM_002637.4(PHKA1):c.*1241GT[13]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GBenign
Select item 319384	NM_000293.3(PHKB):c.*1311dup	PHKB	Duplication (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319381	NM_000293.3(PHKB):c.*1001del	PHKB	Deletion (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319380	NM_000293.3(PHKB):c.*1000del	PHKB	Deletion (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319379	NM_000293.3(PHKB):c.*982del	PHKB	Deletion (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319375	NM_000293.3(PHKB):c.*610TA[1]	PHKB	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319372	NM_000293.3(PHKB):c.358_360del	PHKB	Deletion (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319364	NM_000293.3(PHKB):c.3144+32_3144+34dup	PHKB	Duplication (intron variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319363	NM_000293.3(PHKB):c.3144+34dup	PHKB	Duplication (intron variant)	Glycogen phosphorylase kinase deficiency +1 more	GBenign
Select item 319362	NM_000293.3(PHKB):c.3144+12_3144+13insT	PHKB	Insertion (intron variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319361	NM_000293.3(PHKB):c.3144+12dup	PHKB	Duplication (intron variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 319328	NM_000293.3(PHKB):c.204C>T (p.Thr68=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	PHKB-related disorder +2 more	GConflicting classifications of pathogenicity
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 318952	NM_001014979.3(CFAP119):c.236+113A>G	CFAP119, LOC126862330 +1 more	Single nucleotide variant (intron variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318951	NM_001014979.3(CFAP119):c.236+222T>C	CFAP119, LOC126862330 +1 more	Single nucleotide variant (intron variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318950	NM_001014979.3(CFAP119):c.512C>T (p.Thr171Ile)	CFAP119, PHKG2 (T171I)	Single nucleotide variant (3 prime UTR variant +2 more)	Glycogen phosphorylase kinase deficiency +1 more	GUncertain significance
Select item 318949	NM_001014979.3(CFAP119):c.540+18A>G	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely benign
Select item 318948	NM_001014979.3(CFAP119):c.658-4C>T	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318947	NM_001014979.3(CFAP119):c.818-578G>A	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318946	NM_001014979.3(CFAP119):c.818-289T>C	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318945	NM_001014979.3(CFAP119):c.818-33C>T	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely benign
Select item 318944	NM_001014979.3(CFAP119):c.829G>A (p.Val277Ile)	CFAP119, PHKG2 (V277I)	Single nucleotide variant (3 prime UTR variant +2 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318943	NM_000294.3(PHKG2):c.*211C>T	PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318939	NM_000294.3(PHKG2):c.556+4_556+5dup	PHKG2	Duplication (intron variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318932	NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)	PHKG2 (D28V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc +2 more	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 257176	NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del)	PHKB (E813del +1 more)	Microsatellite (inframe_deletion)	Glycogen phosphorylase kinase deficiency +3 more	GBenign/Likely benign
Select item 13620	NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)	PHKB (Y419* +1 more)	Single nucleotide variant (nonsense)	Glycogen phosphorylase kinase deficiency +1 more	GPathogenic
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

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Items: 51