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.1054G>T (p.Gly352Cys)	PAH	Pathogenic/Likely pathogenic	12	103238125	103238125	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229309
Deletion	NM_000277.3(PAH):c.1055del (p.Gly352fs)	PAH	Pathogenic	12	103238124	103238124	AC	A	reviewed by expert panel	ClinGen:CA229311
Deletion	NM_000277.3(PAH):c.1056del (p.Glu353fs)	PAH	Pathogenic	12	103238123	103238123	CA	C	reviewed by expert panel	ClinGen:CA229312
single nucleotide variant	NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)	PAH	Pathogenic	12	103238116	103238116	G	A	criteria provided, single submitter	ClinGen:CA229313
single nucleotide variant	NM_000277.3(PAH):c.1065+1G>A	PAH	Likely pathogenic	12	103238113	103238113	C	T	reviewed by expert panel	ClinGen:CA229315
single nucleotide variant	NM_000277.3(PAH):c.1066-14C>G	PAH	Likely pathogenic	12	103237571	103237571	G	C	reviewed by expert panel	ClinGen:CA229321
single nucleotide variant	NM_000277.3(PAH):c.1066-1G>A	PAH	Pathogenic	12	103237558	103237558	C	T	reviewed by expert panel	ClinGen:CA229322
single nucleotide variant	NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)	PAH	Likely pathogenic	12	103237554	103237554	A	C	reviewed by expert panel	ClinGen:CA229329,UniProtKB:P00439#VAR_011575
single nucleotide variant	NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)	PAH	Pathogenic	12	103237539	103237539	G	T	criteria provided, single submitter	ClinGen:CA229332,UniProtKB:P00439#VAR_001016
Deletion	NM_000277.3(PAH):c.1089del (p.Lys363fs)	PAH	Pathogenic	12	103237534	103237534	GC	G	reviewed by expert panel	ClinGen:CA229336