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.1301C>A (p.Ala434Asp)	PAH	Pathogenic/Likely pathogenic	12	103234192	103234192	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229427
Duplication	NM_000277.3(PAH):c.1298dup (p.Leu433fs)	PAH	Likely pathogenic	12	103234194	103234195	C	CA	criteria provided, single submitter	ClinGen:CA16041557
Deletion	NM_000277.3(PAH):c.1293_1294del (p.Lys431fs)	PAH	Likely pathogenic	12	103234199	103234200	ATC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)	PAH	Likely pathogenic	12	103234204	103234204	A	G	reviewed by expert panel	ClinGen:CA229426,UniProtKB:P00439#VAR_001041
single nucleotide variant	NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)	PAH	Likely pathogenic	12	103234208	103234208	G	T	reviewed by expert panel	-
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.1262T>C (p.Ile421Thr)	PAH	Likely pathogenic	12	103234231	103234231	A	G	reviewed by expert panel	ClinGen:CA229420
single nucleotide variant	NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)	PAH	Likely pathogenic	12	103234231	103234231	A	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	PAH	Pathogenic	12	103234237	103234237	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)	PAH	Pathogenic	12	103234241	103234241	T	G	reviewed by expert panel	ClinGen:CA229418,UniProtKB:P00439#VAR_001040