遺伝性ポルフィリン症

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_000190.4(HMBS):c.530T>G (p.Leu177Arg)	HMBS	Pathogenic	11	118962154	118962154	T	G	criteria provided, single submitter	OMIM:609806.0025,ClinGen:CA251824,UniProtKB:P08397#VAR_003655
single nucleotide variant	NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)	HMBS	Likely pathogenic	11	118963201	118963201	T	C	criteria provided, single submitter	UniProtKB:P08397#VAR_003664,OMIM:609806.0029,ClinGen:CA251828
single nucleotide variant	NM_000190.4(HMBS):c.913-1G>A	HMBS	Pathogenic	11	118963819	118963819	G	A	criteria provided, single submitter	OMIM:609806.0036
single nucleotide variant	NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)	HMBS	Pathogenic	11	118962869	118962869	G	A	criteria provided, single submitter	ClinGen:CA251838,UniProtKB:P08397#VAR_011015,OMIM:609806.0038
single nucleotide variant	NM_000190.4(HMBS):c.849G>A (p.Trp283Ter)	HMBS	Pathogenic	11	118963668	118963668	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251840,OMIM:609806.0043
single nucleotide variant	NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)	HMBS	Pathogenic	11	118960922	118960922	C	T	criteria provided, multiple submitters, no conflicts	OMIM:609806.0046,ClinGen:CA251845
single nucleotide variant	NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)	HMBS	Pathogenic	11	118962207	118962207	C	T	criteria provided, single submitter	ClinGen:CA272877,UniProtKB:P08397#VAR_003656
Deletion	NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)	HMBS	Pathogenic	11	118960753	118960753	AC	A	criteria provided, single submitter	ClinGen:CA16043455
single nucleotide variant	NM_000190.4(HMBS):c.799G>A (p.Val267Met)	HMBS	Likely pathogenic	11	118963495	118963495	G	A	criteria provided, single submitter	ClinGen:CA16606875
single nucleotide variant	NM_000190.4(HMBS):c.104C>T (p.Thr35Met)	HMBS	Likely pathogenic	11	118959361	118959361	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229593101