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
Duplication	NM_000277.3(PAH):c.610dup (p.Tyr204fs)	PAH	Pathogenic/Likely pathogenic	12	103249009	103249010	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	PAH	Pathogenic/Likely pathogenic	12	103245467	103245467	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000277.3(PAH):c.913-2A>C	PAH	Pathogenic/Likely pathogenic	12	103240731	103240731	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000277.3(PAH):c.329del (p.Ser110fs)	PAH	Pathogenic/Likely pathogenic	12	103288536	103288536	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041561
Deletion	NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	PAH	Pathogenic/Likely pathogenic	12	103248955	103248956	ATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229678
single nucleotide variant	NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	PAH	Pathogenic/Likely pathogenic	12	103248988	103248988	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267667
single nucleotide variant	NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	PAH	Pathogenic/Likely pathogenic	12	103288682	103288682	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267644
single nucleotide variant	NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	PAH	Pathogenic/Likely pathogenic	12	103240678	103240678	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229875,UniProtKB:P00439#VAR_000999
single nucleotide variant	NM_000277.3(PAH):c.941C>A (p.Pro314His)	PAH	Pathogenic/Likely pathogenic	12	103240701	103240701	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229867,UniProtKB:P00439#VAR_000997
single nucleotide variant	NM_000277.3(PAH):c.940C>A (p.Pro314Thr)	PAH	Pathogenic/Likely pathogenic	12	103240702	103240702	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229863