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.826A>G (p.Met276Val)	PAH	Likely pathogenic	12	103246609	103246609	T	C	reviewed by expert panel	ClinGen:CA229794,UniProtKB:P00439#VAR_000975
single nucleotide variant	NM_000277.3(PAH):c.827T>A (p.Met276Lys)	PAH	Likely pathogenic	12	103246608	103246608	A	T	reviewed by expert panel	ClinGen:CA229795
single nucleotide variant	NM_000277.3(PAH):c.827T>G (p.Met276Arg)	PAH	Likely pathogenic	12	103246608	103246608	A	C	reviewed by expert panel	ClinGen:CA229797
single nucleotide variant	NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)	PAH	Pathogenic	12	103246605	103246605	T	C	reviewed by expert panel	ClinGen:CA229800,UniProtKB:P00439#VAR_000976
single nucleotide variant	NM_000277.3(PAH):c.832A>G (p.Thr278Ala)	PAH	Likely pathogenic	12	103246603	103246603	T	C	reviewed by expert panel	ClinGen:CA229801,UniProtKB:P00439#VAR_000978
single nucleotide variant	NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	PAH	Pathogenic	12	103246602	103246602	G	T	reviewed by expert panel	ClinGen:CA229802,UniProtKB:P00439#VAR_000979
single nucleotide variant	NM_000277.3(PAH):c.833C>T (p.Thr278Ile)	PAH	Pathogenic	12	103246602	103246602	G	A	reviewed by expert panel	ClinGen:CA229803
single nucleotide variant	NM_000277.3(PAH):c.838G>C (p.Glu280Gln)	PAH	Likely pathogenic	12	103246597	103246597	C	G	criteria provided, single submitter	ClinGen:CA229805
single nucleotide variant	NM_000277.3(PAH):c.839A>G (p.Glu280Gly)	PAH	Pathogenic	12	103246596	103246596	T	C	criteria provided, single submitter	ClinGen:CA229808
single nucleotide variant	NM_000277.3(PAH):c.842+1G>T	PAH	Pathogenic	12	103246592	103246592	C	A	reviewed by expert panel	ClinGen:CA229812