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.618C>G (p.Tyr206Ter)	PAH	Pathogenic	12	103249002	103249002	G	C	reviewed by expert panel	ClinGen:CA229662
single nucleotide variant	NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	PAH	Likely pathogenic	12	103249000	103249000	T	C	reviewed by expert panel	ClinGen:CA229665,UniProtKB:P00439#VAR_000927
single nucleotide variant	NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	PAH	Pathogenic	12	103248989	103248989	G	T	reviewed by expert panel	ClinGen:CA229666,UniProtKB:P00439#VAR_000928
Deletion	NM_000277.3(PAH):c.632del (p.Pro211fs)	PAH	Pathogenic	12	103248988	103248988	TG	T	reviewed by expert panel	ClinGen:CA229667
single nucleotide variant	NM_000277.3(PAH):c.635T>C (p.Leu212Pro)	PAH	Likely pathogenic	12	103248985	103248985	A	G	reviewed by expert panel	ClinGen:CA229668,UniProtKB:P00439#VAR_000929
single nucleotide variant	NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)	PAH	Pathogenic	12	103248972	103248972	G	C	reviewed by expert panel	ClinGen:CA229669
single nucleotide variant	NM_000277.3(PAH):c.649T>G (p.Cys217Gly)	PAH	Likely pathogenic	12	103248971	103248971	A	C	reviewed by expert panel	ClinGen:CA229673,UniProtKB:P00439#VAR_000931
single nucleotide variant	NM_000277.3(PAH):c.653G>T (p.Gly218Val)	PAH	Pathogenic	12	103248967	103248967	C	A	reviewed by expert panel	ClinGen:CA229676,UniProtKB:P00439#VAR_000932
single nucleotide variant	NM_000277.3(PAH):c.665A>G (p.Asp222Gly)	PAH	Likely pathogenic	12	103248955	103248955	T	C	reviewed by expert panel	ClinGen:CA229679
single nucleotide variant	NM_000277.3(PAH):c.665A>T (p.Asp222Val)	PAH	Likely pathogenic	12	103248955	103248955	T	A	reviewed by expert panel	ClinGen:CA229681,UniProtKB:P00439#VAR_000934