フェニルケトン尿症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.884C>G (p.Ser295Ter)	PAH	Pathogenic	12	103245493	103245493	G	C	reviewed by expert panel	ClinGen:CA229834
single nucleotide variant	NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	PAH	Likely pathogenic	12	103245488	103245488	G	A	reviewed by expert panel	ClinGen:CA229836,UniProtKB:P00439#VAR_000985
single nucleotide variant	NM_000277.3(PAH):c.899C>T (p.Ala300Val)	PAH	Likely pathogenic	12	103245478	103245478	G	A	reviewed by expert panel	ClinGen:CA229839,UniProtKB:P00439#VAR_000989
Deletion	NM_000277.3(PAH):c.907del (p.Ser303fs)	PAH	Pathogenic	12	103245470	103245470	GA	G	reviewed by expert panel	ClinGen:CA229840
single nucleotide variant	NM_000277.3(PAH):c.907T>C (p.Ser303Pro)	PAH	Likely pathogenic	12	103245470	103245470	A	G	reviewed by expert panel	ClinGen:CA229841,UniProtKB:P00439#VAR_000990
single nucleotide variant	NM_000277.3(PAH):c.907T>G (p.Ser303Ala)	PAH	Likely pathogenic	12	103245470	103245470	A	C	reviewed by expert panel	ClinGen:CA229842
single nucleotide variant	NM_000277.3(PAH):c.911A>G (p.Gln304Arg)	PAH	Likely pathogenic	12	103245466	103245466	T	C	reviewed by expert panel	ClinGen:CA229844,UniProtKB:P00439#VAR_000991
single nucleotide variant	NM_000277.3(PAH):c.912G>A (p.Gln304=)	PAH	Likely pathogenic	12	103245465	103245465	C	T	reviewed by expert panel	ClinGen:CA229845
single nucleotide variant	NM_000277.3(PAH):c.913-7A>G	PAH	Likely pathogenic	12	103240736	103240736	T	C	reviewed by expert panel	ClinGen:CA229848
single nucleotide variant	NM_000277.3(PAH):c.926C>A (p.Ala309Asp)	PAH	Pathogenic/Likely pathogenic	12	103240716	103240716	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229853,UniProtKB:P00439#VAR_000993