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.1172G>C (p.Ser391Thr)	PAH	Likely pathogenic	12	103237451	103237451	C	G	reviewed by expert panel	ClinGen:CA357240
single nucleotide variant	NM_000277.3(PAH):c.320A>G (p.His107Arg)	PAH	Pathogenic	12	103288545	103288545	T	C	reviewed by expert panel	ClinGen:CA354151
single nucleotide variant	NM_000277.3(PAH):c.110T>C (p.Leu37Pro)	PAH	Likely pathogenic	12	103306627	103306627	A	G	reviewed by expert panel	ClinGen:CA357242
single nucleotide variant	NM_000277.3(PAH):c.1315+1G>T	PAH	Likely pathogenic	12	103234177	103234177	C	A	reviewed by expert panel	ClinGen:CA16020993
Duplication	NM_000277.3(PAH):c.1298dup (p.Leu433fs)	PAH	Likely pathogenic	12	103234194	103234195	C	CA	criteria provided, single submitter	ClinGen:CA16041557
single nucleotide variant	NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)	PAH	Likely pathogenic	12	103234211	103234211	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041558
single nucleotide variant	NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)	PAH	Pathogenic	12	103237476	103237476	G	A	reviewed by expert panel	ClinGen:CA16020949
single nucleotide variant	NM_000277.3(PAH):c.992T>C (p.Phe331Ser)	PAH	Likely pathogenic	12	103238187	103238187	A	G	criteria provided, single submitter	ClinGen:CA16020915
Deletion	NM_000277.3(PAH):c.790del (p.His264fs)	PAH	Likely pathogenic	12	103246645	103246645	TG	T	criteria provided, single submitter	ClinGen:CA16041559
Deletion	NM_000277.3(PAH):c.745del (p.Leu249fs)	PAH	Pathogenic	12	103246690	103246690	AG	A	reviewed by expert panel	ClinGen:CA16020850