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.208_210del (p.Ser70del)	PAH	Pathogenic	12	103288655	103288657	GAGA	G	reviewed by expert panel	ClinGen:CA229490
single nucleotide variant	NM_000277.3(PAH):c.212G>A (p.Arg71His)	PAH	Likely pathogenic	12	103288653	103288653	C	T	reviewed by expert panel	ClinGen:CA286499
single nucleotide variant	NM_000277.3(PAH):c.227A>C (p.Glu76Ala)	PAH	Pathogenic	12	103288638	103288638	T	G	criteria provided, single submitter	ClinGen:CA229492,UniProtKB:P00439#VAR_000886
single nucleotide variant	NM_000277.3(PAH):c.232G>A (p.Glu78Lys)	PAH	Likely pathogenic	12	103288633	103288633	C	T	criteria provided, single submitter	ClinGen:CA229495
single nucleotide variant	NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	PAH	Pathogenic/Likely pathogenic	12	103288624	103288624	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229497
Deletion	NM_000277.3(PAH):c.241_256del (p.Thr81fs)	PAH	Pathogenic	12	103288609	103288624	CGTTTATCCAAATGGGT	C	reviewed by expert panel	ClinGen:CA229499
single nucleotide variant	NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)	PAH	Pathogenic/Likely pathogenic	12	103288615	103288615	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229500,UniProtKB:P00439#VAR_000887
single nucleotide variant	NM_000277.3(PAH):c.265C>T (p.Pro89Ser)	PAH	Pathogenic	12	103288600	103288600	G	A	criteria provided, single submitter	ClinGen:CA229501
Duplication	NM_000277.3(PAH):c.266dup (p.Ala90fs)	PAH	Pathogenic	12	103288598	103288599	A	AG	reviewed by expert panel	ClinGen:CA229503
single nucleotide variant	NM_000277.3(PAH):c.275C>T (p.Thr92Ile)	PAH	Pathogenic	12	103288590	103288590	G	A	criteria provided, single submitter	ClinGen:CA229504,UniProtKB:P00439#VAR_000889