"PreventionGenetics, part of Exact Sciences"[submitter] AND "PHKB"[gen - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 511596	NM_000293.3(PHKB):c.-8G>C	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	PHKB-related disorder +1 more	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 1166692	NM_000293.3(PHKB):c.76+2537G>A	PHKB (V9I)	Single nucleotide variant (missense variant +1 more)	PHKB-related disorder +1 more	GBenign
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 511197	NM_000293.3(PHKB):c.258C>T (p.Asp86=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	PHKB-related disorder +2 more	GLikely benign
Select item 257177	NM_000293.3(PHKB):c.305+11G>T	LOC112449713, PHKB	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 257178	NM_000293.3(PHKB):c.318T>C (p.Asp106=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GBenign
Select item 319333	NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)	PHKB (D134N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 319336	NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)	PHKB (Y167C +1 more)	Single nucleotide variant (missense variant)	PHKB-related disorder +3 more	GBenign/Likely benign
Select item 198068	NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)	PHKB (N173S +1 more)	Single nucleotide variant (missense variant)	PHKB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 516456	NM_000293.3(PHKB):c.574A>G (p.Ile192Val)	PHKB (I192V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +3 more	GConflicting classifications of pathogenicity
Select item 257179	NM_000293.3(PHKB):c.775-6G>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb +1 more	GBenign
Select item 257170	NM_000293.3(PHKB):c.1127-14A>G	PHKB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1333370	NM_000293.3(PHKB):c.1127-2A>G	PHKB	Single nucleotide variant (splice acceptor variant)	PHKB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 257171	NM_000293.3(PHKB):c.1363+13G>T	PHKB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 194467	NM_000293.3(PHKB):c.1459-9G>T	PHKB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 731875	NM_000293.3(PHKB):c.1574C>A (p.Pro525His)	PHKB (P518H +1 more)	Single nucleotide variant (missense variant)	PHKB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3053585	NM_000293.3(PHKB):c.1609-20_1609-5del	PHKB	Deletion (intron variant)	PHKB-related disorder	GLikely benign
Select item 391812	NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)	PHKB (M587L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +2 more	GConflicting classifications of pathogenicity
Select item 257172	NM_000293.3(PHKB):c.1803G>A (p.Ala601=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GLikely benign
Select item 257173	NM_000293.3(PHKB):c.1881-52_1881-49del	PHKB	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 281127	NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)	PHKB (Q657K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +3 more	GConflicting classifications of pathogenicity
Select item 1974331	NM_000293.3(PHKB):c.1992G>A (p.Val664=)	PHKB	Single nucleotide variant (synonymous variant)	PHKB-related disorder +1 more	GLikely benign
Select item 595727	NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)	PHKB (K692R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +2 more	GConflicting classifications of pathogenicity
Select item 257174	NM_000293.3(PHKB):c.2244C>G (p.Leu748=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GBenign
Select item 785532	NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)	PHKB (V755I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GLikely benign
Select item 257175	NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)	PHKB (Y763C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GBenign/Likely benign
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 3052640	NM_000293.3(PHKB):c.2427+964dup	PHKB	Duplication (intron variant)	PHKB-related disorder	GLikely benign
Select item 516791	NM_000293.3(PHKB):c.2427+964del	PHKB	Deletion (intron variant)	Glycogen storage disease IXb +2 more	GLikely benign
Select item 3029539	NM_000293.3(PHKB):c.2427+1006A>G	PHKB	Single nucleotide variant (synonymous variant +1 more)	PHKB-related disorder	GLikely benign
Select item 257176	NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del)	PHKB (E813del +1 more)	Microsatellite (inframe_deletion)	Glycogen storage disease IXb +3 more	GBenign/Likely benign
Select item 714701	NM_000293.3(PHKB):c.2532G>A (p.Glu844=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GBenign/Likely benign
Select item 2637056	NM_000293.3(PHKB):c.2896-1G>T	PHKB	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXb +1 more	GPathogenic
Select item 2142418	NM_000293.3(PHKB):c.2985C>T (p.Tyr995=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GLikely benign
Select item 2634850	NM_000293.3(PHKB):c.3124del (p.Arg1041_Leu1042insTer)	PHKB	Deletion (nonsense)	PHKB-related disorder	GPathogenic

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Items: 36