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.1133A>T (p.Asp378Val)	ALPL	Pathogenic	1	21902361	21902361	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256928,UniProtKB:P05186#VAR_006167,OMIM:171760.0009
single nucleotide variant	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL	Pathogenic	1	21900176	21900176	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256921,UniProtKB:P05186#VAR_006163,OMIM:171760.0003
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.395C>T (p.Ala132Val)	ALPL	Likely pathogenic	1	21889700	21889700	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.1324C>T (p.Gln442Ter)	ALPL	Likely pathogenic	1	21903890	21903890	C	T	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs)	ALPL	Likely pathogenic	1	21903038	21903041	CACAG	C	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.427del (p.Gln143fs)	ALPL	Likely pathogenic	1	21889730	21889730	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)	ALPL	Likely pathogenic	1	21902267	21902267	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.862+1G>A	ALPL	Likely pathogenic	1	21896868	21896868	G	A	criteria provided, single submitter	-