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.498C>G (p.Tyr166Ter)	PAH	Pathogenic	12	103260385	103260385	G	C	reviewed by expert panel	ClinGen:CA16020801
Duplication	NM_000277.3(PAH):c.352+2dup	PAH	Likely pathogenic	12	103288510	103288511	T	TA	criteria provided, single submitter	ClinGen:CA16041560
Deletion	NM_000277.3(PAH):c.329del (p.Ser110fs)	PAH	Pathogenic/Likely pathogenic	12	103288536	103288536	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041561
single nucleotide variant	NM_000277.3(PAH):c.901C>A (p.Gln301Lys)	PAH	Pathogenic	12	103245476	103245476	G	T	criteria provided, single submitter	ClinGen:CA16606056
single nucleotide variant	NM_000277.3(PAH):c.978G>A (p.Trp326Ter)	PAH	Pathogenic	12	103238201	103238201	C	T	criteria provided, single submitter	ClinGen:CA386493515
single nucleotide variant	NM_000277.3(PAH):c.842+4A>G	PAH	Likely pathogenic	12	103246589	103246589	T	C	reviewed by expert panel	ClinGen:CA16020870
single nucleotide variant	NM_000277.3(PAH):c.934G>T (p.Gly312Cys)	PAH	Likely pathogenic	12	103240708	103240708	C	A	criteria provided, single submitter	ClinGen:CA386291684
Deletion	NC_000012.11:g.(?_103248894)_(103249130_?)del	PAH	Pathogenic	12	103248894	103249130	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.865G>A (p.Gly289Arg)	PAH	Pathogenic	12	103245512	103245512	C	T	reviewed by expert panel	ClinGen:CA386294434
single nucleotide variant	NM_000277.3(PAH):c.835C>G (p.Pro279Ala)	PAH	Pathogenic	12	103246600	103246600	G	C	criteria provided, single submitter	ClinGen:CA386294536