フェニルケトン尿症

小児・神経疾患

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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.707-1G>A	PAH	Pathogenic	12	103246729	103246729	C	T	reviewed by expert panel	ClinGen:CA229703
single nucleotide variant	NM_000277.3(PAH):c.707-2A>G	PAH	Pathogenic	12	103246730	103246730	T	C	reviewed by expert panel	ClinGen:CA229704
single nucleotide variant	NM_000277.3(PAH):c.712A>C (p.Thr238Pro)	PAH	Likely pathogenic	12	103246723	103246723	T	G	reviewed by expert panel	ClinGen:CA229705,UniProtKB:P00439#VAR_000941
single nucleotide variant	NM_000277.3(PAH):c.716G>A (p.Gly239Asp)	PAH	Pathogenic	12	103246719	103246719	C	T	criteria provided, single submitter	ClinGen:CA229707
single nucleotide variant	NM_000277.3(PAH):c.716G>C (p.Gly239Ala)	PAH	Likely pathogenic	12	103246719	103246719	C	G	criteria provided, single submitter	ClinGen:CA229709
single nucleotide variant	NM_000277.3(PAH):c.716G>T (p.Gly239Val)	PAH	Likely pathogenic	12	103246719	103246719	C	A	reviewed by expert panel	ClinGen:CA229711
single nucleotide variant	NM_000277.3(PAH):c.719T>C (p.Phe240Ser)	PAH	Likely pathogenic	12	103246716	103246716	A	G	reviewed by expert panel	ClinGen:CA229715,UniProtKB:P00439#VAR_011572
single nucleotide variant	NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	PAH	Pathogenic	12	103246714	103246714	G	A	reviewed by expert panel	ClinGen:CA273357,UniProtKB:P00439#VAR_000943
single nucleotide variant	NM_000277.3(PAH):c.722G>A (p.Arg241His)	PAH	Pathogenic	12	103246713	103246713	C	T	reviewed by expert panel	ClinGen:CA286507,UniProtKB:P00439#VAR_000944
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