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.745C>T (p.Leu249Phe)	PAH	Pathogenic	12	103246690	103246690	G	A	reviewed by expert panel	ClinGen:CA273356,UniProtKB:P00439#VAR_000955
single nucleotide variant	NM_000277.3(PAH):c.746T>A (p.Leu249His)	PAH	Likely pathogenic	12	103246689	103246689	A	T	reviewed by expert panel	ClinGen:CA229740
single nucleotide variant	NM_000277.3(PAH):c.754C>G (p.Arg252Gly)	PAH	Pathogenic	12	103246681	103246681	G	C	reviewed by expert panel	ClinGen:CA229742,UniProtKB:P00439#VAR_000956
single nucleotide variant	NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	PAH	Pathogenic	12	103246680	103246680	C	T	reviewed by expert panel	ClinGen:CA229743,UniProtKB:P00439#VAR_000957
single nucleotide variant	NM_000277.3(PAH):c.770G>T (p.Gly257Val)	PAH	Pathogenic	12	103246665	103246665	C	A	reviewed by expert panel	ClinGen:CA229753
single nucleotide variant	NM_000277.3(PAH):c.775G>A (p.Ala259Thr)	PAH	Pathogenic/Likely pathogenic	12	103246660	103246660	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229755,UniProtKB:P00439#VAR_000962
single nucleotide variant	NM_000277.3(PAH):c.782G>C (p.Arg261Pro)	PAH	Pathogenic	12	103246653	103246653	C	G	reviewed by expert panel	ClinGen:CA229759,UniProtKB:P00439#VAR_000964
single nucleotide variant	NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)	PAH	Likely pathogenic	12	103246641	103246641	C	T	reviewed by expert panel	ClinGen:CA229763
single nucleotide variant	NM_000277.3(PAH):c.799C>G (p.Gln267Glu)	PAH	Pathogenic	12	103246636	103246636	G	C	reviewed by expert panel	ClinGen:CA229769
single nucleotide variant	NM_000277.3(PAH):c.801G>C (p.Gln267His)	PAH	Likely pathogenic	12	103246634	103246634	C	G	reviewed by expert panel	ClinGen:CA229771