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.1046C>A (p.Ser349Ter)	PAH	Likely pathogenic	12	103238133	103238133	G	T	reviewed by expert panel	ClinGen:CA229300
Duplication	NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)	PAH	Likely pathogenic	12	103238131	103238132	A	ATGAC	reviewed by expert panel	ClinGen:CA229303
single nucleotide variant	NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)	PAH	Likely pathogenic	12	103238131	103238131	A	T	reviewed by expert panel	ClinGen:CA229304,UniProtKB:P00439#VAR_001015
single nucleotide variant	NM_000277.3(PAH):c.1054G>C (p.Gly352Arg)	PAH	Likely pathogenic	12	103238125	103238125	C	G	reviewed by expert panel	ClinGen:CA229307
single nucleotide variant	NM_000277.3(PAH):c.1065+1G>A	PAH	Likely pathogenic	12	103238113	103238113	C	T	reviewed by expert panel	ClinGen:CA229315
single nucleotide variant	NM_000277.3(PAH):c.1066-14C>G	PAH	Likely pathogenic	12	103237571	103237571	G	C	reviewed by expert panel	ClinGen:CA229321
single nucleotide variant	NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)	PAH	Likely pathogenic	12	103237554	103237554	A	C	reviewed by expert panel	ClinGen:CA229329,UniProtKB:P00439#VAR_011575
single nucleotide variant	NM_000277.3(PAH):c.1097C>A (p.Pro366His)	PAH	Likely pathogenic	12	103237526	103237526	G	T	reviewed by expert panel	ClinGen:CA229341,UniProtKB:P00439#VAR_001019
single nucleotide variant	NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	PAH	Likely pathogenic	12	103237509	103237509	T	A	reviewed by expert panel	ClinGen:CA229350,UniProtKB:P00439#VAR_001020
single nucleotide variant	NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)	PAH	Likely pathogenic	12	103237506	103237506	C	T	reviewed by expert panel	ClinGen:CA229351