遺伝性ポルフィリン症

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
single nucleotide variant	NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)	HMBS	Pathogenic/Likely pathogenic	11	118962141	118962141	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)	HMBS	Pathogenic/Likely pathogenic	11	118962124	118962124	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251795,UniProtKB:P08397#VAR_003651,OMIM:609806.0005
single nucleotide variant	NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)	HMBS	Pathogenic	11	118962123	118962123	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251813,UniProtKB:P08397#VAR_003652,OMIM:609806.0013
single nucleotide variant	NM_000190.4(HMBS):c.499-1G>A	HMBS	Pathogenic	11	118962122	118962122	G	A	criteria provided, single submitter	OMIM:609806.0024
single nucleotide variant	NM_000190.4(HMBS):c.457C>T (p.Gln153Ter)	HMBS	Pathogenic	11	118960934	118960934	C	T	criteria provided, single submitter	-
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
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.346C>T (p.Arg116Trp)	HMBS	Pathogenic	11	118960701	118960701	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251793,UniProtKB:P08397#VAR_003647,OMIM:609806.0004
single nucleotide variant	NM_000190.4(HMBS):c.345-1G>A	HMBS	Pathogenic	11	118960699	118960699	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)	HMBS	Pathogenic/Likely pathogenic	11	118960457	118960457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251822,UniProtKB:P08397#VAR_003645,OMIM:609806.0023