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.805A>C (p.Ile269Leu)	PAH	Pathogenic	12	103246630	103246630	T	G	reviewed by expert panel	ClinGen:CA229775,UniProtKB:P00439#VAR_000969
single nucleotide variant	NM_000277.3(PAH):c.806T>A (p.Ile269Asn)	PAH	Likely pathogenic	12	103246629	103246629	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229776
Deletion	NM_000277.3(PAH):c.806del (p.Ile269fs)	PAH	Pathogenic	12	103246629	103246629	GA	G	reviewed by expert panel	ClinGen:CA229778
single nucleotide variant	NM_000277.3(PAH):c.809G>A (p.Arg270Lys)	PAH	Pathogenic	12	103246626	103246626	C	T	reviewed by expert panel	ClinGen:CA229781,UniProtKB:P00439#VAR_000970
single nucleotide variant	NM_000277.3(PAH):c.810A>T (p.Arg270Ser)	PAH	Pathogenic	12	103246625	103246625	T	A	criteria provided, single submitter	ClinGen:CA229782,UniProtKB:P00439#VAR_000971
single nucleotide variant	NM_000277.3(PAH):c.812A>G (p.His271Arg)	PAH	Likely pathogenic	12	103246623	103246623	T	C	reviewed by expert panel	ClinGen:CA286508
Deletion	NM_000277.3(PAH):c.822_832del (p.Lys274fs)	PAH	Pathogenic	12	103246603	103246613	GTATACATGGGC	G	reviewed by expert panel	ClinGen:CA229788
single nucleotide variant	NM_000277.3(PAH):c.823C>T (p.Pro275Ser)	PAH	Pathogenic	12	103246612	103246612	G	A	reviewed by expert panel	ClinGen:CA229789
single nucleotide variant	NM_000277.3(PAH):c.824C>G (p.Pro275Arg)	PAH	Likely pathogenic	12	103246611	103246611	G	C	reviewed by expert panel	ClinGen:CA229791
single nucleotide variant	NM_000277.3(PAH):c.824C>T (p.Pro275Leu)	PAH	Pathogenic	12	103246611	103246611	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_068004,ClinGen:CA229793