"Eurofins Ntd Llc (ga)"[submitter] AND "PHKB"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198068	NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)	PHKB (N173S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
Select item 198067	NM_000293.3(PHKB):c.555G>T (p.Met185Ile)	PHKB (M185I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 595531	NM_000293.3(PHKB):c.678A>G (p.Lys226=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
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 289493	NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)	PHKB (Q516* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281127	NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)	PHKB (Q657K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
Select item 195929	NM_000293.3(PHKB):c.2445T>C (p.Phe815=)	PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
Select item 196100	NM_000293.3(PHKB):c.2766-7G>A	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
Select item 598147	NM_000293.3(PHKB):c.2882A>T (p.Lys961Met)	PHKB (K961M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance