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.673C>T (p.Arg225Ter)	HMBS	Pathogenic	11	118963135	118963135	C	T	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_000190.4(HMBS):c.623_624del (p.Pro208fs)	HMBS	Pathogenic	11	118962845	118962846	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000190.4(HMBS):c.612+1G>A	HMBS	Pathogenic	11	118962237	118962237	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000190.4(HMBS):c.612G>T (p.Gln204His)	HMBS	Pathogenic	11	118962236	118962236	G	T	criteria provided, single submitter	OMIM:609806.0011
single nucleotide variant	NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)	HMBS	Pathogenic/Likely pathogenic	11	118962225	118962225	C	T	criteria provided, multiple submitters, no conflicts	OMIM:609806.0026,ClinGen:CA251820,UniProtKB:P08397#VAR_003657
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
Duplication	NM_000190.4(HMBS):c.544dup (p.Glu182fs)	HMBS	Pathogenic	11	118962166	118962167	A	AG	criteria provided, single submitter	-
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.518G>A (p.Arg173Gln)	HMBS	Pathogenic	11	118962142	118962142	G	A	criteria provided, single submitter	ClinGen:CA251797,UniProtKB:P08397#VAR_003653,OMIM:609806.0006