フェニルケトン尿症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000277.3(PAH):c.929C>T (p.Ser310Phe)	PAH	Pathogenic/Likely pathogenic	12	103240713	103240713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229855,UniProtKB:P00439#VAR_000995
single nucleotide variant	NM_000277.3(PAH):c.926C>A (p.Ala309Asp)	PAH	Pathogenic/Likely pathogenic	12	103240716	103240716	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229853,UniProtKB:P00439#VAR_000993
single nucleotide variant	NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	PAH	Pathogenic/Likely pathogenic	12	103245533	103245533	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229817,UniProtKB:P00439#VAR_000982
single nucleotide variant	NM_000277.3(PAH):c.842+5G>A	PAH	Pathogenic/Likely pathogenic	12	103246588	103246588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229815
single nucleotide variant	NM_000277.3(PAH):c.775G>A (p.Ala259Thr)	PAH	Pathogenic/Likely pathogenic	12	103246660	103246660	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229755,UniProtKB:P00439#VAR_000962
single nucleotide variant	NM_000277.3(PAH):c.740G>T (p.Gly247Val)	PAH	Pathogenic/Likely pathogenic	12	103246695	103246695	C	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P00439#VAR_000953,ClinGen:CA229736
single nucleotide variant	NM_000277.3(PAH):c.722G>T (p.Arg241Leu)	PAH	Pathogenic/Likely pathogenic	12	103246713	103246713	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229716,UniProtKB:P00439#VAR_000945
single nucleotide variant	NM_000277.3(PAH):c.671T>C (p.Ile224Thr)	PAH	Pathogenic/Likely pathogenic	12	103248949	103248949	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229682
single nucleotide variant	NM_000277.3(PAH):c.482T>C (p.Phe161Ser)	PAH	Pathogenic/Likely pathogenic	12	103260401	103260401	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229575,UniProtKB:P00439#VAR_000904
single nucleotide variant	NM_000277.3(PAH):c.442-5C>G	PAH	Pathogenic/Likely pathogenic	12	103260446	103260446	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA286504