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.526C>T (p.Arg176Ter)	PAH	Pathogenic	12	103249094	103249094	G	A	reviewed by expert panel	ClinGen:CA275338
single nucleotide variant	NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	PAH	Pathogenic	12	103249093	103249093	C	T	reviewed by expert panel	ClinGen:CA229606
single nucleotide variant	NM_000277.3(PAH):c.527G>C (p.Arg176Pro)	PAH	Pathogenic	12	103249093	103249093	C	G	criteria provided, single submitter	UniProtKB:P00439#VAR_000914,ClinGen:CA229608
single nucleotide variant	NM_000277.3(PAH):c.529G>A (p.Val177Met)	PAH	Pathogenic	12	103249091	103249091	C	T	reviewed by expert panel	ClinGen:CA229609,UniProtKB:P00439#VAR_068002
single nucleotide variant	NM_000277.3(PAH):c.529G>C (p.Val177Leu)	PAH	Pathogenic	12	103249091	103249091	C	G	reviewed by expert panel	ClinGen:CA229610,UniProtKB:P00439#VAR_000915
single nucleotide variant	NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)	PAH	Likely pathogenic	12	103249085	103249085	A	T	reviewed by expert panel	ClinGen:CA229613
single nucleotide variant	NM_000277.3(PAH):c.535T>C (p.Tyr179His)	PAH	Likely pathogenic	12	103249085	103249085	A	G	reviewed by expert panel	ClinGen:CA229615
single nucleotide variant	NM_000277.3(PAH):c.545A>G (p.Glu182Gly)	PAH	Likely pathogenic	12	103249075	103249075	T	C	reviewed by expert panel	ClinGen:CA229617
Deletion	NM_000277.3(PAH):c.556del (p.Thr186fs)	PAH	Pathogenic	12	103249064	103249064	GT	G	reviewed by expert panel	ClinGen:CA229620
Deletion	NM_000277.3(PAH):c.558_559del (p.Trp187fs)	PAH	Pathogenic	12	103249061	103249062	CAT	C	reviewed by expert panel	ClinGen:CA229621