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.669_698del (p.Glu223_Leu232del)	HMBS	Pathogenic	11	118963127	118963156	GTGGAAGTGCGAGCCAAGGACCAGGACATCT	G	criteria provided, single submitter	ClinGen:CA658797819
Deletion	NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)	HMBS	Pathogenic	11	118963984	118964038	ATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCC	A	criteria provided, single submitter	-
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.76C>T (p.Arg26Cys)	HMBS	Pathogenic	11	118959007	118959007	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000190.4(HMBS):c.77G>T (p.Arg26Leu)	HMBS	Pathogenic	11	118959008	118959008	G	T	criteria provided, single submitter	-
Deletion	NM_000190.4(HMBS):c.168_169del (p.Met56fs)	HMBS	Pathogenic	11	118959798	118959799	ATG	A	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	-
Deletion	NM_000190.4(HMBS):c.323del (p.Phe108fs)	HMBS	Pathogenic	11	118960448	118960448	CT	C	criteria provided, single submitter	-
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.517C>T (p.Arg173Trp)	HMBS	Pathogenic/Likely pathogenic	11	118962141	118962141	C	T	criteria provided, multiple submitters, no conflicts	-