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.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
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.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.250G>T (p.Asp84Tyr)	PAH	Pathogenic/Likely pathogenic	12	103288615	103288615	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229500,UniProtKB:P00439#VAR_000887
single nucleotide variant	NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	PAH	Pathogenic/Likely pathogenic	12	103288624	103288624	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229497
Duplication	NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)	PAH	Pathogenic/Likely pathogenic	12	103232956	103232957	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA229438
single nucleotide variant	NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	PAH	Pathogenic/Likely pathogenic	12	103234192	103234192	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229427
single nucleotide variant	NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)	PAH	Pathogenic/Likely pathogenic	12	103234274	103234274	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229400,UniProtKB:P00439#VAR_011576
single nucleotide variant	NM_000277.3(PAH):c.1199+17G>A	PAH	Pathogenic/Likely pathogenic	12	103237407	103237407	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229384
single nucleotide variant	NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	PAH	Pathogenic/Likely pathogenic	12	103237439	103237439	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA286498,UniProtKB:P00439#VAR_001030