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.533A>G (p.Glu178Gly)	PAH	Pathogenic	12	103249087	103249087	T	C	reviewed by expert panel	ClinGen:CA273110,UniProtKB:P00439#VAR_000916
single nucleotide variant	NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	PAH	Pathogenic	12	103248982	103248982	A	G	reviewed by expert panel	ClinGen:CA273109,UniProtKB:P00439#VAR_000930
single nucleotide variant	NM_000277.3(PAH):c.841C>T (p.Pro281Ser)	PAH	Likely pathogenic	12	103246594	103246594	G	A	reviewed by expert panel	ClinGen:CA220587
single nucleotide variant	NM_000277.3(PAH):c.890G>A (p.Arg297His)	PAH	Pathogenic	12	103245487	103245487	C	T	reviewed by expert panel	ClinGen:CA220590,UniProtKB:P00439#VAR_000986
single nucleotide variant	NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	PAH	Pathogenic	12	103245479	103245479	C	A	reviewed by expert panel	ClinGen:CA273108,UniProtKB:P00439#VAR_000988
single nucleotide variant	NM_000277.3(PAH):c.912+1G>A	PAH	Pathogenic	12	103245464	103245464	C	T	reviewed by expert panel	ClinGen:CA220591
single nucleotide variant	NM_000277.3(PAH):c.926C>T (p.Ala309Val)	PAH	Pathogenic	12	103240716	103240716	G	A	reviewed by expert panel	ClinGen:CA220592,UniProtKB:P00439#VAR_000994
single nucleotide variant	NM_000277.3(PAH):c.955G>T (p.Glu319Ter)	PAH	Pathogenic	12	103240687	103240687	C	A	criteria provided, single submitter	ClinGen:CA266811
single nucleotide variant	NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	PAH	Likely pathogenic	12	103238205	103238205	T	C	reviewed by expert panel	ClinGen:CA220593,UniProtKB:P00439#VAR_009245
single nucleotide variant	NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)	PAH	Pathogenic	12	103238173	103238173	G	A	reviewed by expert panel	ClinGen:CA229264