C0031485[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255733	NM_000277.3(PAH):c.*19G>T	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 857071	NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)	PAH (A447T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 552907	NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	PAH (I406M)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 92731	NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	PAH (A403V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 703089	NM_000277.3(PAH):c.1161C>T (p.Tyr387=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 167413	NM_000277.3(PAH):c.1155C>G (p.Leu385=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 628	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH (T380M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 554266	NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)	PAH (K363N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 102503	NM_000277.3(PAH):c.1065+39G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120297	NM_000277.3(PAH):c.931_932del (p.Leu311fs)	PAH (L311fs)	Microsatellite (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92751	NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	LOC126861615, PAH (A300S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 589	NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	PAH (P281L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 883189	NM_000277.3(PAH):c.786C>T (p.Val262=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 610	NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	PAH (R261*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92748	NM_000277.3(PAH):c.735G>A (p.Val245=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 588	NM_000277.3(PAH):c.727C>T (p.Arg243Ter)	PAH (R243*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 167414	NM_000277.3(PAH):c.696G>A (p.Gln232=)	PAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 102784	NM_000277.3(PAH):c.688G>A (p.Val230Ile)	PAH (V230I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102766	NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	PAH (P211T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102765	NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	PAH (N207S)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102726	NM_000277.3(PAH):c.529G>A (p.Val177Met)	PAH (V177M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102723	NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	PAH (R176*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 125436	NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	PAH (R169C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102654	NM_000277.3(PAH):c.353-22C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 102648	NM_000277.3(PAH):c.305T>C (p.Ile102Thr)	PAH (I102T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 92734	NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	PAH (F55L)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia +3 more	GPathogenic/Likely pathogenic
Select item 102601	NM_000277.3(PAH):c.158G>A (p.Arg53His)	PAH (R53H)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database

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Items: 27