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
Deletion	NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)	HMBS	Pathogenic	11	118963984	118964038	ATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000190.4(HMBS):c.913-1G>A	HMBS	Pathogenic	11	118963819	118963819	G	A	criteria provided, single submitter	OMIM:609806.0036
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.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.849G>A (p.Trp283Ter)	HMBS	Pathogenic	11	118963668	118963668	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251840,OMIM:609806.0043
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.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.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	-