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
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.1316-1G>A	PAH	Pathogenic	12	103232997	103232997	C	T	reviewed by expert panel	-
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.1123C>G (p.Gln375Glu)	PAH	Likely pathogenic	12	103237500	103237500	G	C	reviewed by expert panel	-
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.516G>T (p.Gln172His)	PAH	Likely pathogenic	12	103249104	103249104	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.223G>A (p.Asp75Asn)	PAH	Likely pathogenic	12	103288642	103288642	C	T	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_102917061)_(102917140_?)del	PAH	Pathogenic	12	103310839	103310918	na	na	criteria provided, single submitter	-
Deletion	NM_000277.3(PAH):c.1066-10_1070del	PAH	Likely pathogenic	12	103237553	103237567	GCAGTACTGTAGGCCC	G	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_102855126)_(102855342_?)del	PAH	Pathogenic	12	103248904	103249120	na	na	criteria provided, single submitter	-