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.892G>A (p.Glu298Lys)	ALPL	Pathogenic/Likely pathogenic	1	21900187	21900187	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256926,UniProtKB:P05186#VAR_025928,OMIM:171760.0020
single nucleotide variant	NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)	ALPL	Pathogenic/Likely pathogenic	1	21900186	21900186	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274381
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
single nucleotide variant	NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)	ALPL	Pathogenic/Likely pathogenic	1	21900166	21900166	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273965,UniProtKB:P05186#VAR_013989
single nucleotide variant	NM_000478.6(ALPL):c.862+1G>A	ALPL	Likely pathogenic	1	21896868	21896868	G	A	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.841del (p.His281fs)	ALPL	Likely pathogenic	1	21896842	21896842	AC	A	criteria provided, single submitter	ClinGen:CA16040718
single nucleotide variant	NM_000478.6(ALPL):c.815G>A (p.Arg272His)	ALPL	Pathogenic/Likely pathogenic	1	21896820	21896820	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666626
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.809G>A (p.Trp270Ter)	ALPL	Pathogenic/Likely pathogenic	1	21896814	21896814	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274277
single nucleotide variant	NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)	ALPL	Pathogenic/Likely pathogenic	1	21894739	21894739	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273908