"Baylor Genetics"[submitter] AND "LOC126861615"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92752	NM_000277.3(PAH):c.912+1G>A	LOC126861615, PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102892	NM_000277.3(PAH):c.912G>A (p.Gln304=)	PAH, LOC126861615	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 558132	NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	LOC126861615, PAH (Q304*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102888	NM_000277.3(PAH):c.907del (p.Ser303fs)	LOC126861615, PAH (S303fs)	Deletion (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 613	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	LOC126861615, PAH (F299C)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic
Select item 92750	NM_000277.3(PAH):c.890G>A (p.Arg297His)	LOC126861615, PAH (R297H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102885	NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	LOC126861615, PAH (R297C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 458082	NM_000277.3(PAH):c.865G>A (p.Gly289Arg)	LOC126861615, PAH (G289R)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102880	NM_000277.3(PAH):c.856G>A (p.Glu286Lys)	PAH, LOC126861615 (E286K)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102877	NM_000277.3(PAH):c.848T>A (p.Ile283Asn)	LOC126861615, PAH (I283N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102876	NM_000277.3(PAH):c.847A>T (p.Ile283Phe)	LOC126861615, PAH (I283F)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic
Select item 102875	NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	LOC126861615, PAH (D282G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 102874	NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	LOC126861615, PAH (D282N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 984532	NM_000277.3(PAH):c.843-5T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database