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.1315+1G>A	PAH	Pathogenic	12	103234177	103234177	C	T	reviewed by expert panel	ClinGen:CA251522,OMIM:612349.0001
single nucleotide variant	NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	PAH	Pathogenic	12	103234271	103234271	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_001035,OMIM:612349.0002,ClinGen:CA251523
single nucleotide variant	NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	PAH	Pathogenic	12	103240710	103240710	A	G	reviewed by expert panel	ClinGen:CA251524,UniProtKB:P00439#VAR_000996,OMIM:612349.0003
single nucleotide variant	NM_000277.3(PAH):c.977G>A (p.Trp326Ter)	PAH	Pathogenic	12	103238202	103238202	C	T	reviewed by expert panel	ClinGen:CA229887,OMIM:612349.0015
single nucleotide variant	NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	PAH	Pathogenic	12	103246597	103246597	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251525,UniProtKB:P00439#VAR_000980,OMIM:612349.0004
single nucleotide variant	NM_000277.3(PAH):c.331C>T (p.Arg111Ter)	PAH	Pathogenic	12	103288534	103288534	G	A	reviewed by expert panel	ClinGen:CA251526,OMIM:612349.0005
single nucleotide variant	NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	PAH	Pathogenic	12	103246653	103246653	C	T	reviewed by expert panel	ClinGen:CA251528,UniProtKB:P00439#VAR_000965,OMIM:612349.0006
single nucleotide variant	NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	PAH	Pathogenic/Likely pathogenic	12	103288604	103288604	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114359,UniProtKB:P00439#VAR_000888,OMIM:612349.0057
single nucleotide variant	NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	PAH	Pathogenic	12	103246681	103246681	G	A	reviewed by expert panel	ClinGen:CA251529,UniProtKB:P00439#VAR_000958,OMIM:612349.0007,ClinVar:217885
single nucleotide variant	NM_000277.3(PAH):c.1A>G (p.Met1Val)	PAH	Pathogenic	12	103310908	103310908	T	C	reviewed by expert panel	ClinGen:CA114360,OMIM:612349.0009