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.1474del (p.Ala492fs)	ALPL	Pathogenic	1	21904037	21904037	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)	ALPL	Pathogenic	1	21900289	21900289	G	T	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.18del (p.Val7fs)	ALPL	Pathogenic	1	21880592	21880592	TA	T	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.360_361del (p.Val121fs)	ALPL	Pathogenic	1	21889663	21889664	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA666466
single nucleotide variant	NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	ALPL	Pathogenic	1	21894616	21894616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666577
single nucleotide variant	NM_000478.6(ALPL):c.997+2T>G	ALPL	Pathogenic	1	21900294	21900294	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040720
single nucleotide variant	NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	ALPL	Pathogenic	1	21896819	21896819	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256936,OMIM:171760.0023
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.648+1G>A	ALPL	Pathogenic	1	21890710	21890710	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212949,OMIM:171760.0016
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