腸性先端皮膚炎

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)	SLC39A4	Pathogenic/Likely pathogenic	8	145641385	145641385	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116339,OMIM:607059.0011
single nucleotide variant	NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	SLC39A4	Pathogenic/Likely pathogenic	8	145640679	145640679	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116329,OMIM:607059.0004
single nucleotide variant	NM_130849.4(SLC39A4):c.493C>T (p.Gln165Ter)	SLC39A4	Likely pathogenic	8	145640785	145640785	G	A	criteria provided, single submitter	ClinGen:CA16606031
single nucleotide variant	NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)	SLC39A4	Likely pathogenic	8	145639675	145639675	C	T	criteria provided, single submitter	ClinGen:CA116333,OMIM:607059.0006