低ホスファターゼ症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.87G>A (p.Trp29Ter)	ALPL	Likely pathogenic	1	21887144	21887144	G	A	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.18del (p.Val7fs)	ALPL	Pathogenic	1	21880592	21880592	TA	T	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.205_212del (p.Ala69fs)	ALPL	Likely pathogenic	1	21887611	21887618	ACGGCTGCC	A	criteria provided, single submitter	ClinGen:CA658795411
Duplication	NM_000478.6(ALPL):c.1171dup (p.Arg391fs)	ALPL	Pathogenic/Likely pathogenic	1	21902393	21902394	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA666743
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
Deletion	NM_000478.6(ALPL):c.360_361del (p.Val121fs)	ALPL	Pathogenic	1	21889663	21889664	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA666466
single nucleotide variant	NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)	ALPL	Pathogenic/Likely pathogenic	1	21889645	21889645	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338877136
Deletion	NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)	ALPL	Likely pathogenic	1	21904124	21904125	CCT	C	criteria provided, single submitter	ClinGen:CA658656892
Deletion	NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer)	ALPL	Likely pathogenic	1	21889608	21889608	AC	A	criteria provided, single submitter	ClinGen:CA658653731
single nucleotide variant	NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	ALPL	Pathogenic/Likely pathogenic	1	21903969	21903969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA666842