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.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.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.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.891C>A (p.Tyr297Ter)	ALPL	Pathogenic/Likely pathogenic	1	21900186	21900186	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274381
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.61+2T>G	ALPL	Likely pathogenic	1	21880637	21880637	T	G	criteria provided, single submitter	ClinGen:CA666363
single nucleotide variant	NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)	ALPL	Pathogenic/Likely pathogenic	1	21887145	21887145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040712
Deletion	NM_000478.6(ALPL):c.114del (p.Lys38fs)	ALPL	Likely pathogenic	1	21887169	21887169	GA	G	criteria provided, single submitter	ClinGen:CA16040713
Deletion	NM_000478.6(ALPL):c.129del (p.Gln44fs)	ALPL	Pathogenic/Likely pathogenic	1	21887185	21887185	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA666403
single nucleotide variant	NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)	ALPL	Pathogenic/Likely pathogenic	1	21887187	21887187	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040714