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_000277.3(PAH):c.722del (p.Arg241fs)	PAH	Pathogenic	12	103246713	103246713	GC	G	reviewed by expert panel	ClinVar:402236,ClinGen:CA229717
single nucleotide variant	NM_000277.3(PAH):c.724C>T (p.Leu242Phe)	PAH	Pathogenic	12	103246711	103246711	G	A	reviewed by expert panel	ClinGen:CA229718,UniProtKB:P00439#VAR_000946
single nucleotide variant	NM_000277.3(PAH):c.728G>T (p.Arg243Leu)	PAH	Likely pathogenic	12	103246707	103246707	C	A	reviewed by expert panel	ClinGen:CA229719
single nucleotide variant	NM_000277.3(PAH):c.733G>A (p.Val245Met)	PAH	Pathogenic	12	103246702	103246702	C	T	reviewed by expert panel	ClinGen:CA229722
single nucleotide variant	NM_000277.3(PAH):c.733G>C (p.Val245Leu)	PAH	Pathogenic	12	103246702	103246702	C	G	reviewed by expert panel	ClinGen:CA229724,UniProtKB:P00439#VAR_000951
single nucleotide variant	NM_000277.3(PAH):c.734T>A (p.Val245Glu)	PAH	Pathogenic	12	103246701	103246701	A	T	criteria provided, single submitter	ClinGen:CA229725,UniProtKB:P00439#VAR_000950
Deletion	NM_000277.3(PAH):c.737del (p.Ala246fs)	PAH	Pathogenic	12	103246698	103246698	AG	A	criteria provided, single submitter	ClinGen:CA229729
single nucleotide variant	NM_000277.3(PAH):c.739G>A (p.Gly247Ser)	PAH	Likely pathogenic	12	103246696	103246696	C	T	reviewed by expert panel	ClinGen:CA229730
single nucleotide variant	NM_000277.3(PAH):c.739G>C (p.Gly247Arg)	PAH	Likely pathogenic	12	103246696	103246696	C	G	reviewed by expert panel	ClinGen:CA229732
single nucleotide variant	NM_000277.3(PAH):c.740G>T (p.Gly247Val)	PAH	Pathogenic/Likely pathogenic	12	103246695	103246695	C	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P00439#VAR_000953,ClinGen:CA229736