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
single nucleotide variant	NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)	ALPL	Likely pathogenic	1	21902267	21902267	C	T	criteria provided, single submitter	-
Duplication	NM_000478.6(ALPL):c.1017dup (p.His340fs)	ALPL	Pathogenic/Likely pathogenic	1	21902242	21902243	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL	Pathogenic/Likely pathogenic	1	21902229	21902229	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256929,UniProtKB:P05186#VAR_006166,OMIM:171760.0010
single nucleotide variant	NM_000478.6(ALPL):c.998-2A>G	ALPL	Likely pathogenic	1	21902224	21902224	A	G	criteria provided, single submitter	ClinGen:CA16040721
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.994G>T (p.Glu332Ter)	ALPL	Pathogenic	1	21900289	21900289	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL	Pathogenic/Likely pathogenic	1	21900274	21900274	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256930,UniProtKB:P05186#VAR_006165,OMIM:171760.0011
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.923C>G (p.Ser308Ter)	ALPL	Pathogenic	1	21900218	21900218	C	G	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.903del (p.Asn302fs)	ALPL	Likely pathogenic	1	21900197	21900197	AG	A	criteria provided, single submitter	ClinGen:CA666672