ヘモクロマトーシス

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_000410.4(HFE):c.848A>C (p.Gln283Pro)	HFE	Pathogenic/Likely pathogenic	6	26093144	26093144	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280949,UniProtKB:Q30201#VAR_037304,OMIM:613609.0011
single nucleotide variant	NM_000410.4(HFE):c.502G>T (p.Glu168Ter)	HFE	Pathogenic	6	26091703	26091703	G	T	criteria provided, single submitter	ClinGen:CA346923
single nucleotide variant	NM_000410.4(HFE):c.892G>T (p.Glu298Ter)	HFE	Pathogenic/Likely pathogenic	6	26093188	26093188	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3666754
Deletion	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE	Pathogenic/Likely pathogenic	6	26091747	26091748	ACC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3666670
single nucleotide variant	NM_001200.4(BMP2):c.79G>T (p.Glu27Ter)	BMP2	Likely pathogenic	20	6750852	6750852	G	T	criteria provided, single submitter	ClinGen:CA408260194,OMIM:112261.0003
single nucleotide variant	NM_001200.4(BMP2):c.987C>A (p.Cys329Ter)	BMP2	Likely pathogenic	20	6759532	6759532	C	A	criteria provided, single submitter	ClinGen:CA408259569,OMIM:112261.0006
Deletion	NM_000410.4(HFE):c.762del (p.Asp255fs)	HFE	Pathogenic	6	26093056	26093056	TA	T	criteria provided, single submitter	ClinGen:CA658796729
single nucleotide variant	NM_001200.4(BMP2):c.43C>T (p.Gln15Ter)	BMP2	Pathogenic	20	6750816	6750816	C	T	criteria provided, single submitter	-
Indel	NM_000410.4(HFE):c.77-2_78delinsTGGAGTC	HFE	Likely pathogenic	6	26091067	26091070	AGGT	TGGAGTC	criteria provided, single submitter	-