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.165T>G (p.Phe55Leu)	PAH	Pathogenic/Likely pathogenic	12	103306572	103306572	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273114,UniProtKB:P00439#VAR_000879
Deletion	NM_000277.3(PAH):c.165del (p.Phe55fs)	PAH	Pathogenic	12	103306572	103306572	CA	C	reviewed by expert panel	ClinGen:CA251540,OMIM:612349.0037
Indel	NM_000277.3(PAH):c.168_168+1delinsAA	PAH	Likely pathogenic	12	103306568	103306569	CC	TT	reviewed by expert panel	ClinGen:CA273936
single nucleotide variant	NM_000277.3(PAH):c.168G>T (p.Glu56Asp)	PAH	Pathogenic	12	103306569	103306569	C	A	reviewed by expert panel	ClinGen:CA229459,UniProtKB:P00439#VAR_000880
single nucleotide variant	NM_000277.3(PAH):c.168+1G>A	PAH	Pathogenic	12	103306568	103306568	C	T	reviewed by expert panel	ClinGen:CA229452
single nucleotide variant	NM_000277.3(PAH):c.168+5G>C	PAH	Pathogenic	12	103306564	103306564	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229454
single nucleotide variant	NM_000277.3(PAH):c.168+5G>A	PAH	Likely pathogenic	12	103306564	103306564	C	T	reviewed by expert panel	ClinGen:CA229453
single nucleotide variant	NM_000277.3(PAH):c.169-13T>G	PAH	Likely pathogenic	12	103288709	103288709	A	C	reviewed by expert panel	ClinGen:CA229460
single nucleotide variant	NM_000277.3(PAH):c.169-2A>G	PAH	Pathogenic	12	103288698	103288698	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.169G>T (p.Glu57Ter)	PAH	Pathogenic	12	103288696	103288696	C	A	reviewed by expert panel	ClinGen:CA267642