歌舞伎症候群 - MGenReviews

歌舞伎症候群

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_001291415.2(KDM6A):c.398T>G (p.Leu133Ter)	KDM6A	Pathogenic	X	44870219	44870219	T	G	criteria provided, single submitter	ClinGen:CA413022096
single nucleotide variant	NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)	KDM6A	Pathogenic	X	44938468	44938468	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412801240
single nucleotide variant	NM_001291415.2(KDM6A):c.2988+1G>C	KDM6A	Pathogenic	X	44936072	44936072	G	C	criteria provided, single submitter	ClinGen:CA412799348
single nucleotide variant	NM_001291415.2(KDM6A):c.748+1G>A	KDM6A	Likely pathogenic	X	44911048	44911048	G	A	criteria provided, single submitter	ClinGen:CA412778803
Deletion	NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs)	KDM6A	Pathogenic	X	44966753	44966756	GAACC	G	criteria provided, single submitter	ClinGen:CA16621409
single nucleotide variant	NM_001291415.2(KDM6A):c.3835T>C (p.Trp1279Arg)	KDM6A	Likely pathogenic	X	44949118	44949118	T	C	criteria provided, single submitter	ClinGen:CA16621408
single nucleotide variant	NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe)	KDM6A	Likely pathogenic	X	44949037	44949037	C	T	criteria provided, single submitter	ClinGen:CA16609406
single nucleotide variant	NM_001291415.2(KDM6A):c.2356A>G (p.Thr786Ala)	KDM6A	Likely pathogenic	X	44929100	44929100	A	G	criteria provided, single submitter	ClinGen:CA10392500
single nucleotide variant	NM_001291415.2(KDM6A):c.151G>T (p.Gly51Ter)	KDM6A	Pathogenic	X	44732948	44732948	G	T	criteria provided, single submitter	ClinGen:CA10605565
Duplication	NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs)	KDM6A	Pathogenic	X	44936066	44936067	A	AT	criteria provided, single submitter	ClinGen:CA10603729