"Ambry Genetics"[submitter] AND "PHKB"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2198378	NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)	LOC130058947, PHKB (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 1949886	NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)	LOC130058947, PHKB (R21P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2306042	NM_000293.3(PHKB):c.134T>C (p.Leu45Pro)	PHKB (L38P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1001419	NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)	LOC112449713, PHKB (A89G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183980	NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)	PHKB (R103Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2257471	NM_000293.3(PHKB):c.437C>T (p.Thr146Ile)	PHKB (T146I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287502	NM_000293.3(PHKB):c.455T>C (p.Val152Ala)	PHKB (V152A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016905	NM_000293.3(PHKB):c.604A>G (p.Ile202Val)	PHKB (I195V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2460625	NM_000293.3(PHKB):c.707C>T (p.Ser236Leu)	PHKB (S236L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1481841	NM_000293.3(PHKB):c.718G>A (p.Gly240Ser)	PHKB (G233S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 319341	NM_000293.3(PHKB):c.781T>G (p.Ser261Ala)	PHKB (S261A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2342524	NM_000293.3(PHKB):c.878A>C (p.Asp293Ala)	PHKB (D286A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1426325	NM_000293.3(PHKB):c.942C>A (p.Ser314Arg)	PHKB (S307R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2068763	NM_000293.3(PHKB):c.1031A>T (p.Asp344Val)	PHKB (D337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022192	NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)	PHKB (R422Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 1494883	NM_000293.3(PHKB):c.1307G>A (p.Arg436His)	PHKB (R429H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060577	NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro)	PHKB (L433P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2155022	NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)	PHKB (Y463C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2051157	NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys)	PHKB (R470C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2384354	NM_000293.3(PHKB):c.1486C>T (p.His496Tyr)	PHKB (H489Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559010	NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)	PHKB (I500T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2147485	NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys)	PHKB (Y513C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 884922	NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)	PHKB (N537S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +2 more	GUncertain significance
Select item 2266524	NM_000293.3(PHKB):c.1643G>A (p.Gly548Glu)	PHKB (G548E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543429	NM_000293.3(PHKB):c.1649C>G (p.Ser550Cys)	PHKB (S543C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899907	NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu)	PHKB (K564E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1343464	NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)	PHKB (D574N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2458674	NM_000293.3(PHKB):c.1840C>T (p.Arg614Cys)	PHKB (R607C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072667	NM_000293.3(PHKB):c.1841G>A (p.Arg614His)	PHKB (R607H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2299892	NM_000293.3(PHKB):c.1855G>T (p.Val619Phe)	PHKB (V612F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041820	NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp)	PHKB (R615W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2233692	NM_000293.3(PHKB):c.2165A>G (p.Lys722Arg)	PHKB (K722R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243349	NM_000293.3(PHKB):c.2175C>A (p.His725Gln)	PHKB (H725Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305867	NM_000293.3(PHKB):c.2351A>G (p.Tyr784Cys)	PHKB (Y784C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516208	NM_000293.3(PHKB):c.2386A>G (p.Ile796Val)	PHKB (I796V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479134	NM_000293.3(PHKB):c.2464A>T (p.Ile822Phe)	PHKB (I815F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478899	NM_000293.3(PHKB):c.2464A>G (p.Ile822Val)	PHKB (I822V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479631	NM_000293.3(PHKB):c.2489T>G (p.Val830Gly)	PHKB (V830G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193617	NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser)	PHKB (N856S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2237230	NM_000293.3(PHKB):c.2771G>C (p.Trp924Ser)	PHKB (W917S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229193	NM_000293.3(PHKB):c.2781G>T (p.Arg927Ser)	PHKB (R927S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336272	NM_000293.3(PHKB):c.2921T>C (p.Met974Thr)	PHKB (M967T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 839029	NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)	PHKB (V999I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2307837	NM_000293.3(PHKB):c.3085A>G (p.Lys1029Glu)	PHKB (K1022E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149799	NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp)	PHKB (N1086D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance

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Items: 45