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.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.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
Duplication	NM_000190.4(HMBS):c.891dup (p.Thr298fs)	HMBS	Likely pathogenic	11	118963709	118963710	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000190.4(HMBS):c.299T>C (p.Leu100Pro)	HMBS	Likely pathogenic	11	118960425	118960425	T	C	criteria provided, single submitter	-
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.518G>A (p.Arg173Gln)	HMBS	Pathogenic	11	118962142	118962142	G	A	criteria provided, single submitter	ClinGen:CA251797,UniProtKB:P08397#VAR_003653,OMIM:609806.0006