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.211C>T (p.Arg71Cys)	ALPL	Pathogenic/Likely pathogenic	1	21887619	21887619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256920,UniProtKB:P05186#VAR_006149,OMIM:171760.0002
single nucleotide variant	NM_000478.6(ALPL):c.215T>C (p.Ile72Thr)	ALPL	Pathogenic/Likely pathogenic	1	21887623	21887623	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274142
Duplication	NM_000478.6(ALPL):c.225_228dup (p.Leu77fs)	ALPL	Pathogenic/Likely pathogenic	1	21887631	21887632	G	GGTCA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.297+2T>A	ALPL	Likely pathogenic	1	21887707	21887707	T	A	criteria provided, single submitter	ClinGen:CA16040715
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.340G>A (p.Ala114Thr)	ALPL	Pathogenic/Likely pathogenic	1	21889645	21889645	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338877136
single nucleotide variant	NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	ALPL	Pathogenic/Likely pathogenic	1	21889651	21889651	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA123348,UniProtKB:P05186#VAR_013977,OMIM:171760.0015
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
Deletion	NM_000478.6(ALPL):c.392del (p.Ser131fs)	ALPL	Pathogenic/Likely pathogenic	1	21889697	21889697	AG	A	criteria provided, multiple submitters, no conflicts	-
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	-