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
Duplication	NM_001291415.2(KDM6A):c.2988+2dup	KDM6A	Likely pathogenic	X	44936072	44936073	G	GT	criteria provided, single submitter	ClinGen:CA209510
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.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.3300+1G>A	KDM6A	Likely pathogenic	X	44938597	44938597	G	A	criteria provided, single submitter	-
Deletion	NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs)	KDM6A	Pathogenic	X	44941859	44941862	CAGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799731
single nucleotide variant	NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)	KDM6A	Likely pathogenic	X	44945134	44945134	G	A	criteria provided, single submitter	ClinGen:CA412804999
single nucleotide variant	NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)	KDM6A	Likely pathogenic	X	44949023	44949023	C	T	criteria provided, single submitter	-
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.3791A>G (p.Gln1264Arg)	KDM6A	Likely pathogenic	X	44949074	44949074	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA206562
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