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
Deletion	NM_000478.6(ALPL):c.46_49del (p.Asn16fs)	ALPL	Pathogenic/Likely pathogenic	1	21880617	21880620	TACTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040711
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.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.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
single nucleotide variant	NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	ALPL	Pathogenic/Likely pathogenic	1	21894615	21894615	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274235,UniProtKB:P05186#VAR_013986
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
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.215T>C (p.Ile72Thr)	ALPL	Pathogenic/Likely pathogenic	1	21887623	21887623	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274142
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