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	NC_000001.11:g.(?_21575723)_(21575934_?)del	ALPL	Likely pathogenic	1	21902216	21902427	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.923C>G (p.Ser308Ter)	ALPL	Pathogenic	1	21900218	21900218	C	G	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.1474del (p.Ala492fs)	ALPL	Pathogenic	1	21904037	21904037	CG	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	ALPL	Pathogenic/Likely pathogenic	1	21902409	21902410	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1142A>G (p.His381Arg)	ALPL	Pathogenic/Likely pathogenic	1	21902370	21902370	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	ALPL	Likely pathogenic	1	21889700	21889700	C	T	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	-
single nucleotide variant	NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	ALPL	Pathogenic/Likely pathogenic	1	21902399	21902399	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.963del (p.Lys322fs)	ALPL	Likely pathogenic	1	21900257	21900257	CG	C	criteria provided, single submitter	-
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	-