ClinVar for PubMed (Select 10527663) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556660	NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)	PAH (Y206*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102887	NM_000277.3(PAH):c.899C>T (p.Ala300Val)	LOC126861615, PAH (A300V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102862	NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	PAH (T278N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102830	NM_000277.3(PAH):c.770G>T (p.Gly257Val)	PAH (G257V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102801	NM_000277.3(PAH):c.718T>G (p.Phe240Val)	PAH (F240V)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102786	NM_000277.3(PAH):c.691T>C (p.Ser231Pro)	PAH (S231P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 102768	NM_000277.3(PAH):c.635T>C (p.Leu212Pro)	PAH (L212P)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102752	NM_000277.3(PAH):c.601C>T (p.His201Tyr)	PAH (H201Y)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102737	NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	PAH (W187C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102716	NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	PAH (G171R)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102667	NM_000277.3(PAH):c.434A>T (p.Asp145Val)	PAH (D145V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102637	NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	PAH (T81P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 102528	NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	PAH (T372S)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 627	NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	PAH (L98S)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database