歌舞伎症候群 - MGenReviews

歌舞伎症候群

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_001291415.2(KDM6A):c.3300+1G>A	KDM6A	Likely pathogenic	X	44938597	44938597	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.1581+1G>T	KDM6A	Likely pathogenic	X	44920665	44920665	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	KDM6A	Pathogenic	X	44969369	44969369	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)	KDM6A	Likely pathogenic	X	44949023	44949023	C	T	criteria provided, single submitter	-
Duplication	NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs)	KDM6A	Pathogenic	X	44929545	44929546	T	TAC	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)	KDM6A	Pathogenic	X	44928872	44928872	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs)	KDM6A	Likely pathogenic	X	44966717	44966718	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp)	KDM6A	Pathogenic	X	44949994	44949994	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3094+2T>C	KDM6A	Likely pathogenic	X	44937752	44937752	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter)	KDM6A	Likely pathogenic	X	44950000	44950000	G	T	criteria provided, single submitter	-