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.33+1G>A	HMBS	Pathogenic	11	118955777	118955777	G	A	criteria provided, single submitter	OMIM:609806.0001
single nucleotide variant	NM_000190.4(HMBS):c.77G>A (p.Arg26His)	HMBS	Pathogenic	11	118959008	118959008	G	A	criteria provided, single submitter	UniProtKB:P08397#VAR_003639,OMIM:609806.0015,ClinGen:CA251791
single nucleotide variant	NM_000190.4(HMBS):c.33+1G>T	HMBS	Pathogenic	11	118955777	118955777	G	T	criteria provided, single submitter	OMIM:609806.0003
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.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.518G>A (p.Arg173Gln)	HMBS	Pathogenic	11	118962142	118962142	G	A	criteria provided, single submitter	ClinGen:CA251797,UniProtKB:P08397#VAR_003653,OMIM:609806.0006
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.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.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
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