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.668G>A (p.Arg223Gln)	ALPL	Pathogenic	1	21894616	21894616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666577
Deletion	NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs)	ALPL	Likely pathogenic	1	21904091	21904110	AGGCCCCCTGCTGCTCGCGCT	A	criteria provided, single submitter	ClinGen:CA16040724
single nucleotide variant	NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter)	ALPL	Likely pathogenic	1	21903992	21903992	G	T	criteria provided, single submitter	ClinGen:CA16040723
single nucleotide variant	NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	ALPL	Pathogenic/Likely pathogenic	1	21903929	21903929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666834
single nucleotide variant	NM_000478.6(ALPL):c.1144G>A (p.Val382Ile)	ALPL	Pathogenic/Likely pathogenic	1	21902372	21902372	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666741
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
Deletion	NM_000478.6(ALPL):c.903del (p.Asn302fs)	ALPL	Likely pathogenic	1	21900197	21900197	AG	A	criteria provided, single submitter	ClinGen:CA666672
Deletion	NM_000478.6(ALPL):c.841del (p.His281fs)	ALPL	Likely pathogenic	1	21896842	21896842	AC	A	criteria provided, single submitter	ClinGen:CA16040718
Duplication	NM_000478.6(ALPL):c.662dup (p.Gly222fs)	ALPL	Pathogenic/Likely pathogenic	1	21894604	21894605	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040717