"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PHKB"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380388	NM_000293.3(PHKB):c.23C>T (p.Thr8Met)	LOC130058947, PHKB (T8M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 +1 more	GUncertain significance
Select item 257178	NM_000293.3(PHKB):c.318T>C (p.Asp106=)	PHKB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 319333	NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)	PHKB (D134N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GConflicting classifications of pathogenicity
Select item 659474	NM_000293.3(PHKB):c.436A>G (p.Thr146Ala)	PHKB (T139A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683363	NM_000293.3(PHKB):c.496G>A (p.Glu166Lys)	PHKB (E159K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 516456	NM_000293.3(PHKB):c.574A>G (p.Ile192Val)	PHKB (I192V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 559008	NM_000293.3(PHKB):c.710+31dup	PHKB	Duplication (intron variant)	not provided	GLikely benign
Select item 1426856	NM_000293.3(PHKB):c.754T>C (p.Phe252Leu)	PHKB (F252L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 257179	NM_000293.3(PHKB):c.775-6G>C	PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb +2 more	GBenign
Select item 886774	NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)	PHKB (P291S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 319343	NM_000293.3(PHKB):c.932T>C (p.Val311Ala)	PHKB (V311A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GConflicting classifications of pathogenicity
Select item 838928	NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)	PHKB (I374V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683364	NM_000293.3(PHKB):c.1363G>C (p.Ala455Pro)	PHKB (A448P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257171	NM_000293.3(PHKB):c.1363+13G>T	PHKB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 559009	NM_000293.3(PHKB):c.1364-30C>T	PHKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559010	NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)	PHKB (I500T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 731875	NM_000293.3(PHKB):c.1574C>A (p.Pro525His)	PHKB (P518H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1343464	NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)	PHKB (D574N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 559011	NM_000293.3(PHKB):c.1971+29A>G	PHKB	Single nucleotide variant (intron variant)	not provided	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 +1 more	GConflicting classifications of pathogenicity
Select item 257174	NM_000293.3(PHKB):c.2244C>G (p.Leu748=)	PHKB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 785532	NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)	PHKB (V755I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257175	NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)	PHKB (Y763C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 817385	NM_000293.3(PHKB):c.2457del (p.Glu820fs)	PHKB (E813fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 319357	NM_000293.3(PHKB):c.2459A>T (p.Glu820Val)	PHKB (E820V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 967935	NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)	PHKB (P865A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 1513113	NM_000293.3(PHKB):c.2818G>A (p.Gly940Arg)	PHKB (G933R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 3380389	NM_000293.3(PHKB):c.2922G>A (p.Met974Ile)	PHKB (M967I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 319360	NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)	PHKB (R1041W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 559012	NM_000293.3(PHKB):c.3145-25C>G	PHKB	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 34