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.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.673C>A (p.Pro225Thr)	PAH	Pathogenic	12	103248947	103248947	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229685,UniProtKB:P00439#VAR_000937
single nucleotide variant	NM_000277.3(PAH):c.673C>G (p.Pro225Ala)	PAH	Likely pathogenic	12	103248947	103248947	G	C	reviewed by expert panel	ClinGen:CA229686
single nucleotide variant	NM_000277.3(PAH):c.676C>T (p.Gln226Ter)	PAH	Likely pathogenic	12	103248944	103248944	G	A	reviewed by expert panel	ClinGen:CA229689
single nucleotide variant	NM_000277.3(PAH):c.678G>C (p.Gln226His)	PAH	Pathogenic	12	103248942	103248942	C	G	criteria provided, single submitter	ClinGen:CA229691,UniProtKB:P00439#VAR_068003
single nucleotide variant	NM_000277.3(PAH):c.688G>A (p.Val230Ile)	PAH	Likely pathogenic	12	103248932	103248932	C	T	reviewed by expert panel	ClinGen:CA286506,UniProtKB:P00439#VAR_000938
single nucleotide variant	NM_000277.3(PAH):c.691T>C (p.Ser231Pro)	PAH	Pathogenic	12	103248929	103248929	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229694,UniProtKB:P00439#VAR_000939
single nucleotide variant	NM_000277.3(PAH):c.692C>T (p.Ser231Phe)	PAH	Pathogenic	12	103248928	103248928	G	A	criteria provided, single submitter	ClinGen:CA229695,UniProtKB:P00439#VAR_009244
single nucleotide variant	NM_000277.3(PAH):c.694C>T (p.Gln232Ter)	PAH	Pathogenic	12	103248926	103248926	G	A	reviewed by expert panel	ClinGen:CA229696
single nucleotide variant	NM_000277.3(PAH):c.699C>A (p.Phe233Leu)	PAH	Pathogenic	12	103248921	103248921	G	T	reviewed by expert panel	ClinGen:CA229699,UniProtKB:P00439#VAR_000940