低ホスファターゼ症

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
Deletion	NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)	ALPL	Pathogenic/Likely pathogenic	1	21904117	21904132	TCTACCCCCTGAGCGTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)	ALPL	Likely pathogenic	1	21904124	21904125	CCT	C	criteria provided, single submitter	ClinGen:CA658656892
Deletion	NM_000478.6(ALPL):c.1559del (p.Leu520fs)	ALPL	Pathogenic	1	21904125	21904125	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256931,OMIM:171760.0012
Deletion	NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs)	ALPL	Likely pathogenic	1	21904091	21904110	AGGCCCCCTGCTGCTCGCGCT	A	criteria provided, single submitter	ClinGen:CA16040724
Deletion	NM_000478.6(ALPL):c.1474del (p.Ala492fs)	ALPL	Pathogenic	1	21904037	21904037	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	ALPL	Pathogenic/Likely pathogenic	1	21904037	21904037	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter)	ALPL	Likely pathogenic	1	21903992	21903992	G	T	criteria provided, single submitter	ClinGen:CA16040723
single nucleotide variant	NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	ALPL	Pathogenic/Likely pathogenic	1	21903969	21903969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA666842
single nucleotide variant	NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)	ALPL	Pathogenic	1	21903932	21903932	G	A	criteria provided, single submitter	ClinGen:CA256934,UniProtKB:P05186#VAR_011091,OMIM:171760.0019
single nucleotide variant	NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	ALPL	Pathogenic/Likely pathogenic	1	21903929	21903929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666834