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.283A>T (p.Ile95Phe)	PAH	Pathogenic/Likely pathogenic	12	103288582	103288582	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229507
single nucleotide variant	NM_000277.3(PAH):c.2T>G (p.Met1Arg)	PAH	Pathogenic	12	103310907	103310907	A	C	reviewed by expert panel	ClinGen:CA229509
single nucleotide variant	NM_000277.3(PAH):c.305T>C (p.Ile102Thr)	PAH	Pathogenic/Likely pathogenic	12	103288560	103288560	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229511
single nucleotide variant	NM_000277.3(PAH):c.311C>A (p.Ala104Asp)	PAH	Pathogenic	12	103288554	103288554	G	T	reviewed by expert panel	ClinGen:CA229515,UniProtKB:P00439#VAR_000892
single nucleotide variant	NM_000277.3(PAH):c.329C>T (p.Ser110Leu)	PAH	Likely pathogenic	12	103288536	103288536	G	A	reviewed by expert panel	ClinGen:CA229516
single nucleotide variant	NM_000277.3(PAH):c.352+1G>A	PAH	Likely pathogenic	12	103288512	103288512	C	T	reviewed by expert panel	ClinGen:CA229519
single nucleotide variant	NM_000277.3(PAH):c.353-6T>A	PAH	Pathogenic	12	103271334	103271334	A	T	reviewed by expert panel	ClinGen:CA229521
single nucleotide variant	NM_000277.3(PAH):c.359G>A (p.Trp120Ter)	PAH	Pathogenic	12	103271322	103271322	C	T	reviewed by expert panel	ClinGen:CA229522
single nucleotide variant	NM_000277.3(PAH):c.365C>A (p.Pro122Gln)	PAH	Pathogenic	12	103271316	103271316	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229524
single nucleotide variant	NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)	PAH	Pathogenic/Likely pathogenic	12	103271296	103271296	C	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P00439#VAR_000894,ClinGen:CA286503