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_000277.2(PAH):c.1200-1delG	PAH	Likely pathogenic	12	103234293	103234293	TC	T	reviewed by expert panel	ClinGen:CA229394
single nucleotide variant	NM_000277.3(PAH):c.1200-8G>A	PAH	Likely pathogenic	12	103234301	103234301	C	T	reviewed by expert panel	ClinGen:CA229395
single nucleotide variant	NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)	PAH	Likely pathogenic	12	103234276	103234276	A	G	reviewed by expert panel	ClinGen:CA229398
single nucleotide variant	NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)	PAH	Pathogenic/Likely pathogenic	12	103234274	103234274	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229400,UniProtKB:P00439#VAR_011576
single nucleotide variant	NM_000277.3(PAH):c.121C>T (p.Leu41Phe)	PAH	Pathogenic	12	103306616	103306616	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_000873,ClinGen:CA229401
single nucleotide variant	NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)	PAH	Likely pathogenic	12	103234264	103234264	A	C	reviewed by expert panel	ClinGen:CA229406
single nucleotide variant	NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)	PAH	Likely pathogenic	12	103234261	103234261	G	T	reviewed by expert panel	ClinGen:CA229409
single nucleotide variant	NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)	PAH	Pathogenic	12	103234256	103234256	G	T	criteria provided, single submitter	ClinGen:CA229411,UniProtKB:P00439#VAR_001037
single nucleotide variant	NM_000277.3(PAH):c.1249T>C (p.Tyr417His)	PAH	Pathogenic	12	103234244	103234244	A	G	criteria provided, single submitter	ClinGen:CA229417,UniProtKB:P00439#VAR_068008
single nucleotide variant	NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)	PAH	Pathogenic	12	103234241	103234241	T	G	reviewed by expert panel	ClinGen:CA229418,UniProtKB:P00439#VAR_001040