GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PAH M1Iinsufficiently evaluated pathogenicunknown

(1740 web hits)

PAH M1Vinsufficiently evaluated pathogenicunknown

(551 web hits)

PAH F39Linsufficiently evaluated pathogenic, f=0.000unknown

(163 web hits)

PAH G46Sinsufficiently evaluated pathogenicunknown

(69 web hits)

PAH A47Vinsufficiently evaluated pathogenicunknown

(32 web hits)

PAH L48Sinsufficiently evaluated pathogenic, f=0.000unknown

(290 web hits)

PAH I65Tinsufficiently evaluated pathogenic, f=0.000unknown

(360 web hits)

PAH E76Ginsufficiently evaluated pathogenicunknown

(28 web hits)

PAH S87Rinsufficiently evaluated pathogenicunknown

(25 web hits)

PAH I97Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
var-GS19026-1100-36-ASM
PAH L98Sinsufficiently evaluated pathogenicunknown

(19 web hits)

PAH R111Xinsufficiently evaluated pathogenicunknown

The PAH-R111X allele is found in clinical cases of phenylketonuria (PKU) identified by newborn screening among patients of Asian descent. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia.

(152 web hits)

PAH R158Qinsufficiently evaluated pathogenic, f=0.000unknown

The PAH-R158Q allele was identified in a patient with phenylketonuria. The effect of this allele on enzyme function was demonstrated in a mammalian cell assay system. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia.

(272 web hits)

PAH N167Sinsufficiently evaluated pathogenic, f=0.005recessive

This variant was implicated in Phenylketonuria after it was seen in a heterozygous fashion in one individual.

(5 web hits)

var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM
PAH R169Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PAH R176Qinsufficiently evaluated pathogenicrecessive

Hyperphenylalaninemia

(6 web hits)

PAH R176Linsufficiently evaluated pathogenic, f=0.000unknown

(31 web hits)

PAH Y204Cinsufficiently evaluated pathogenicunknown

(59 web hits)

PAH E221Ginsufficiently evaluated pathogenicunknown

(5 web hits)

PAH R243Qinsufficiently evaluated pathogenicunknown

(201 web hits)

PAH R243Xinsufficiently evaluated pathogenicunknown

(112 web hits)

PAH P244Linsufficiently evaluated pathogenicunknown

(48 web hits)

PAH V245Auncertain pathogenic, f=0.001recessive

This variant was found in combination with some other PAH variants in a few Danish cases of hyperphenylalaninemia. The mildly elevated phenylalanine levels of these cases are generally considered benign, dietary intervention is not usually recommended.

(88 web hits)

CGI sample GS00253-DNA_G01_200_37
PAH R252Winsufficiently evaluated pathogenic, f=0.000unknown

(188 web hits)

PAH L255Sinsufficiently evaluated pathogenicunknown

(38 web hits)

PAH A259Vinsufficiently evaluated pathogenicunknown

(34 web hits)

PAH R261Qinsufficiently evaluated pathogenic, f=0.000unknown

Expression analysis in mammalian cells shows the PAH-R261Q allele to have no effect on the enzymatic function of PAH. Deficiency of this enzyme is associated with phenylketonuria (PKU).

(511 web hits)

PAH R261Xinsufficiently evaluated pathogenicunknown

(108 web hits)

PAH G272Xinsufficiently evaluated pathogenicunknown

(125 web hits)

PAH S273Finsufficiently evaluated pathogenicunknown

(15 web hits)

PAH K274Einsufficiently evaluated not reviewed, f=0.005unknown var-GS18504-1100-36-ASM (hom)
PAH Y277Dinsufficiently evaluated pathogenicunknown

(50 web hits)

PAH E280Kinsufficiently evaluated pathogenic, f=0.000unknown

(115 web hits)

PAH P281Linsufficiently evaluated pathogenic, f=0.000unknown

(262 web hits)

PAH F299Cinsufficiently evaluated pathogenic, f=0.000unknown

(45 web hits)

PAH I306Vinsufficiently evaluated pathogenicunknown

(30 web hits)

PAH L311Pinsufficiently evaluated pathogenicunknown

(37 web hits)

PAH A322Ginsufficiently evaluated pathogenicunknown

(13 web hits)

PAH W326Xinsufficiently evaluated pathogenicunknown

(22 web hits)

PAH L333Finsufficiently evaluated pathogenicunknown

(26 web hits)

PAH S349Rinsufficiently evaluated pathogenicunknown
PAH S349Pinsufficiently evaluated pathogenicunknown

(81 web hits)

PAH Y356Xinsufficiently evaluated pathogenicunknown

(124 web hits)

PAH S359Xinsufficiently evaluated pathogenicunknown

(10 web hits)

PAH T380Minsufficiently evaluated pathogenic, f=0.000unknown

(36 web hits)

PAH V388Minsufficiently evaluated pathogenic, f=0.000unknown

(253 web hits)

PAH E390Ginsufficiently evaluated pathogenic, f=0.000unknown

(251 web hits)

PAH A403Vpathogenicrecessive

Reported to cause phenylketonuria, as recorded in ClinVar by three different genetic testing groups (Emory Genetics Lab, Counsyl, and Partners LMM): http://www.ncbi.nlm.nih.gov/clinvar/RCV000150075/ This effect seems to be well-supported in literature, e.g. Daniele et al 2007 (PMID: 17096675) report this variant accounting for 11.6% of disease-causing variants in patients studied in Southern Italy.

PAH P407Linsufficiently evaluated pathogenicunknown

(9 web hits)

PAH R408Qinsufficiently evaluated pathogenicunknown

(144 web hits)

PAH R408Winsufficiently evaluated pathogenic, f=0.001unknown

The PAH-R408W allele is commonly found in clinical cases of phenylketonuria (PKU) identified by newborn screening. This allele makes up about 20% of mutant PAH alleles found in clinical cases of PKU in eastern Europe. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia.

(701 web hits)

PAH R413Pinsufficiently evaluated pathogenicunknown

(177 web hits)

PAH Y414Cpathogenic, f=0.000recessive

This recessive variant has reduced PAH enzyme activity. It is associated with mild PKU (especially when compound heterozygous with more deleterious PAH mutations) and mild hyperphenylalaninemia.

(420 web hits)

PAH D415Ninsufficiently evaluated pathogenicunknown

(83 web hits)

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Total results: 54

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