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.874C>T (p.Gln292Ter)	HMBS	Pathogenic/Likely pathogenic	11	118963693	118963693	C	T	criteria provided, multiple submitters, no conflicts	-
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.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.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.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.612+1G>A	HMBS	Pathogenic	11	118962237	118962237	G	A	criteria provided, single submitter	-
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.719A>G (p.Asp240Gly)	HMBS	Pathogenic	11	118963181	118963181	A	G	criteria provided, single submitter	-
Deletion	NM_000190.4(HMBS):c.716del (p.His239fs)	HMBS	Pathogenic	11	118963178	118963178	CA	C	criteria provided, single submitter	-
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	-