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.505C>T (p.Arg169Cys)	PAH	Likely pathogenic	12	103260378	103260378	G	A	reviewed by expert panel	ClinGen:CA267693
Deletion	NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	PAH	Pathogenic/Likely pathogenic	12	103248955	103248956	ATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229678
Indel	NM_000277.3(PAH):c.168_168+1delinsAA	PAH	Likely pathogenic	12	103306568	103306569	CC	TT	reviewed by expert panel	ClinGen:CA273936
Deletion	NM_000277.3(PAH):c.357del (p.Trp120fs)	PAH	Pathogenic	12	103271324	103271324	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275242
single nucleotide variant	NM_000277.3(PAH):c.1065+1G>T	PAH	Likely pathogenic	12	103238113	103238113	C	A	reviewed by expert panel	-
Inversion	NM_000277.3(PAH):c.734_735inv (p.Val245Ala)	PAH	Pathogenic	12	103246700	103246701	CA	TG	criteria provided, single submitter	ClinGen:CA312809
single nucleotide variant	NM_000277.3(PAH):c.615G>C (p.Glu205Asp)	PAH	Pathogenic	12	103249005	103249005	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.2T>C (p.Met1Thr)	PAH	Likely pathogenic	12	103310907	103310907	A	G	reviewed by expert panel	ClinGen:CA312807
single nucleotide variant	NM_000277.3(PAH):c.836C>T (p.Pro279Leu)	PAH	Pathogenic	12	103246599	103246599	G	A	criteria provided, single submitter	ClinGen:CA275939
single nucleotide variant	NM_000277.3(PAH):c.242C>A (p.Thr81Asn)	PAH	Likely pathogenic	12	103288623	103288623	G	T	reviewed by expert panel	ClinGen:CA275937