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
Indel	NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)	ALPL	Pathogenic/Likely pathogenic	1	21889705	21889706	AC	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA274069
single nucleotide variant	NM_000478.6(ALPL):c.407G>A (p.Arg136His)	ALPL	Pathogenic/Likely pathogenic	1	21889712	21889712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256932,UniProtKB:P05186#VAR_006152,OMIM:171760.0013
Deletion	NM_000478.6(ALPL):c.427del (p.Gln143fs)	ALPL	Likely pathogenic	1	21889730	21889730	AC	A	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.522del (p.Ser175fs)	ALPL	Pathogenic/Likely pathogenic	1	21890579	21890579	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666519
single nucleotide variant	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL	Pathogenic/Likely pathogenic	1	21890587	21890587	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256935,UniProtKB:P05186#VAR_011083,OMIM:171760.0022
single nucleotide variant	NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	ALPL	Pathogenic/Likely pathogenic	1	21890596	21890596	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256919,UniProtKB:P05186#VAR_006156,OMIM:171760.0001
single nucleotide variant	NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	ALPL	Pathogenic/Likely pathogenic	1	21890603	21890603	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273974,UniProtKB:P05186#VAR_013982
single nucleotide variant	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL	Pathogenic/Likely pathogenic	1	21890632	21890632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256927,UniProtKB:P05186#VAR_006158,OMIM:171760.0008
single nucleotide variant	NM_000478.6(ALPL):c.648+1G>A	ALPL	Pathogenic	1	21890710	21890710	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212949,OMIM:171760.0016
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