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.842+3G>C	PAH	Likely pathogenic	12	103246590	103246590	C	G	reviewed by expert panel	ClinGen:CA229814
single nucleotide variant	NM_000277.3(PAH):c.842+5G>A	PAH	Pathogenic/Likely pathogenic	12	103246588	103246588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229815
single nucleotide variant	NM_000277.3(PAH):c.843-2A>T	PAH	Pathogenic	12	103245536	103245536	T	A	reviewed by expert panel	ClinGen:CA229816
single nucleotide variant	NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	PAH	Pathogenic/Likely pathogenic	12	103245533	103245533	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229817,UniProtKB:P00439#VAR_000982
single nucleotide variant	NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	PAH	Pathogenic	12	103245532	103245532	T	C	criteria provided, single submitter	ClinGen:CA229818
single nucleotide variant	NM_000277.3(PAH):c.847A>T (p.Ile283Phe)	PAH	Pathogenic	12	103245530	103245530	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229820,UniProtKB:P00439#VAR_000983
single nucleotide variant	NM_000277.3(PAH):c.848T>A (p.Ile283Asn)	PAH	Pathogenic	12	103245529	103245529	A	T	reviewed by expert panel	ClinGen:CA229821,UniProtKB:P00439#VAR_000984
single nucleotide variant	NM_000277.3(PAH):c.850T>C (p.Cys284Arg)	PAH	Likely pathogenic	12	103245527	103245527	A	G	reviewed by expert panel	ClinGen:CA229822
single nucleotide variant	NM_000277.3(PAH):c.856G>A (p.Glu286Lys)	PAH	Pathogenic	12	103245521	103245521	C	T	reviewed by expert panel	ClinGen:CA229826
single nucleotide variant	NM_000277.3(PAH):c.865G>C (p.Gly289Arg)	PAH	Pathogenic	12	103245512	103245512	C	G	reviewed by expert panel	ClinGen:CA229830