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.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
Deletion	NC_000012.12:g.(?_102855126)_(102855342_?)del	PAH	Pathogenic	12	103248904	103249120	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_102917061)_(102917140_?)del	PAH	Pathogenic	12	103310839	103310918	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.799C>T (p.Gln267Ter)	PAH	Pathogenic	12	103246636	103246636	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1316-1G>A	PAH	Pathogenic	12	103232997	103232997	C	T	reviewed by expert panel	-
Deletion	NM_000277.3(PAH):c.346_347del (p.Asp116fs)	PAH	Pathogenic	12	103288518	103288519	GTC	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1200-2A>C	PAH	Pathogenic	12	103234295	103234295	T	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.32T>A (p.Leu11Ter)	PAH	Pathogenic	12	103310877	103310877	A	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.590T>A (p.Leu197Ter)	PAH	Pathogenic	12	103249030	103249030	A	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.697T>A (p.Phe233Ile)	PAH	Pathogenic	12	103248923	103248923	A	T	reviewed by expert panel	-