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.875C>T (p.Pro292Leu)	PAH	Likely pathogenic	12	103245502	103245502	G	A	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.1102G>A (p.Glu368Lys)	PAH	Likely pathogenic	12	103237521	103237521	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	PAH	Likely pathogenic	12	103237514	103237514	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	PAH	Likely pathogenic	12	103234189	103234189	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)	PAH	Likely pathogenic	12	103260422	103260422	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.136G>C (p.Gly46Arg)	PAH	Likely pathogenic	12	103306601	103306601	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.224A>G (p.Asp75Gly)	PAH	Likely pathogenic	12	103288641	103288641	T	C	reviewed by expert panel	-