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.224A>T (p.Asp75Val)	PAH	Likely pathogenic	12	103288641	103288641	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.694C>G (p.Gln232Glu)	PAH	Likely pathogenic	12	103248926	103248926	G	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.697T>A (p.Phe233Ile)	PAH	Pathogenic	12	103248923	103248923	A	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.712A>G (p.Thr238Ala)	PAH	Likely pathogenic	12	103246723	103246723	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.773T>C (p.Leu258Pro)	PAH	Likely pathogenic	12	103246662	103246662	A	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.788T>C (p.Phe263Ser)	PAH	Pathogenic	12	103246647	103246647	A	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)	PAH	Likely pathogenic	12	103246632	103246632	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.813T>G (p.His271Gln)	PAH	Likely pathogenic	12	103246622	103246622	A	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.859C>G (p.Leu287Val)	PAH	Likely pathogenic	12	103245518	103245518	G	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1216A>G (p.Ile406Val)	PAH	Likely pathogenic	12	103234277	103234277	T	C	reviewed by expert panel	-