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.1249T>C (p.Tyr417His)	PAH	Pathogenic	12	103234244	103234244	A	G	criteria provided, single submitter	ClinGen:CA229417,UniProtKB:P00439#VAR_068008
single nucleotide variant	NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)	PAH	Likely pathogenic	12	103234246	103234246	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)	PAH	Pathogenic	12	103234250	103234250	C	T	reviewed by expert panel	OMIM:612349.0043,ClinGen:CA114364,UniProtKB:P00439#VAR_001039
single nucleotide variant	NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	PAH	Pathogenic	12	103234252	103234252	T	C	reviewed by expert panel	ClinGen:CA114362,UniProtKB:P00439#VAR_001038,OMIM:612349.0017
single nucleotide variant	NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)	PAH	Pathogenic	12	103234255	103234255	C	G	reviewed by expert panel	ClinGen:CA229414,UniProtKB:P00439#VAR_001036,OMIM:612349.0016
single nucleotide variant	NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)	PAH	Pathogenic	12	103234256	103234256	G	T	criteria provided, single submitter	ClinGen:CA229411,UniProtKB:P00439#VAR_001037
single nucleotide variant	NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)	PAH	Likely pathogenic	12	103234261	103234261	G	T	reviewed by expert panel	ClinGen:CA229409
single nucleotide variant	NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)	PAH	Likely pathogenic	12	103234264	103234264	A	C	reviewed by expert panel	ClinGen:CA229406
single nucleotide variant	NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	PAH	Pathogenic	12	103234270	103234270	C	T	reviewed by expert panel	UniProtKB:P00439#VAR_001034,OMIM:612349.0038,ClinGen:CA229404
single nucleotide variant	NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	PAH	Pathogenic	12	103234271	103234271	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_001035,OMIM:612349.0002,ClinGen:CA251523