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.593_614del (p.Tyr198fs)	PAH	Pathogenic	12	103249006	103249027	CTCATAGCAAGCATGGGTTTTAT	C	reviewed by expert panel	ClinGen:CA229639
Duplication	NM_000277.3(PAH):c.598dup (p.Thr200fs)	PAH	Pathogenic	12	103249021	103249022	G	GT	reviewed by expert panel	ClinGen:CA229640
single nucleotide variant	NM_000277.3(PAH):c.60+5G>T	PAH	Pathogenic	12	103310844	103310844	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274903
single nucleotide variant	NM_000277.3(PAH):c.601C>T (p.His201Tyr)	PAH	Likely pathogenic	12	103249019	103249019	G	A	reviewed by expert panel	ClinGen:CA229643,UniProtKB:P00439#VAR_000923
single nucleotide variant	NM_000277.3(PAH):c.602A>G (p.His201Arg)	PAH	Likely pathogenic	12	103249018	103249018	T	C	criteria provided, single submitter	ClinGen:CA229644,UniProtKB:P00439#VAR_000922
single nucleotide variant	NM_000277.3(PAH):c.608G>A (p.Cys203Tyr)	PAH	Likely pathogenic	12	103249012	103249012	C	T	reviewed by expert panel	ClinGen:CA229645
single nucleotide variant	NM_000277.3(PAH):c.609C>G (p.Cys203Trp)	PAH	Likely pathogenic	12	103249011	103249011	G	C	reviewed by expert panel	ClinGen:CA229647
single nucleotide variant	NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)	PAH	Pathogenic	12	103249008	103249008	A	C	reviewed by expert panel	ClinGen:CA229654
single nucleotide variant	NM_000277.3(PAH):c.613G>A (p.Glu205Lys)	PAH	Likely pathogenic	12	103249007	103249007	C	T	reviewed by expert panel	ClinGen:CA229656
single nucleotide variant	NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)	PAH	Likely pathogenic	12	103249003	103249003	T	C	reviewed by expert panel	ClinGen:CA229660