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.1033G>T (p.Ala345Ser)	PAH	Pathogenic	12	103238146	103238146	C	A	reviewed by expert panel	ClinGen:CA286497,UniProtKB:P00439#VAR_001009
Deletion	NM_000277.3(PAH):c.1038del (p.Leu347fs)	PAH	Pathogenic	12	103238141	103238141	GC	G	reviewed by expert panel	ClinGen:CA229295
Deletion	NM_000277.3(PAH):c.1043_1053del (p.Leu348fs)	PAH	Pathogenic	12	103238126	103238136	CAAAGGATGACA	C	reviewed by expert panel	ClinGen:CA229297
single nucleotide variant	NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)	PAH	Pathogenic	12	103238134	103238134	A	C	criteria provided, single submitter	ClinGen:CA229298
single nucleotide variant	NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)	PAH	Likely pathogenic	12	103238133	103238133	G	T	reviewed by expert panel	ClinGen:CA229300
single nucleotide variant	NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)	PAH	Pathogenic	12	103238133	103238133	G	A	criteria provided, single submitter	ClinGen:CA229302,UniProtKB:P00439#VAR_001013
Duplication	NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)	PAH	Likely pathogenic	12	103238131	103238132	A	ATGAC	reviewed by expert panel	ClinGen:CA229303
single nucleotide variant	NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)	PAH	Likely pathogenic	12	103238131	103238131	A	T	reviewed by expert panel	ClinGen:CA229304,UniProtKB:P00439#VAR_001015
single nucleotide variant	NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)	PAH	Pathogenic	12	103238130	103238130	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229305
single nucleotide variant	NM_000277.3(PAH):c.1054G>C (p.Gly352Arg)	PAH	Likely pathogenic	12	103238125	103238125	C	G	reviewed by expert panel	ClinGen:CA229307