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.1711C>T (p.Arg571Ter)	KDM6A	Pathogenic	X	44922694	44922694	C	T	criteria provided, single submitter	ClinGen:CA130685,OMIM:300128.0003
Deletion	NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs)	KDM6A	Pathogenic	X	44929412	44929415	CACAA	C	criteria provided, single submitter	ClinGen:CA199644,OMIM:300128.0006
Deletion	NM_001291415.2(KDM6A):c.1699del (p.Val567fs)	KDM6A	Pathogenic	X	44922682	44922682	AG	A	criteria provided, single submitter	ClinGen:CA206658
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.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.3991C>T (p.Arg1331Ter)	KDM6A	Pathogenic/Likely pathogenic	X	44950066	44950066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278963
Deletion	NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs)	KDM6A	Pathogenic	X	44929224	44929227	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588786
Duplication	NM_001291415.2(KDM6A):c.2306dup (p.Ser770fs)	KDM6A	Pathogenic	X	44929049	44929050	G	GA	criteria provided, single submitter	ClinGen:CA10603484
Duplication	NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs)	KDM6A	Pathogenic	X	44936066	44936067	A	AT	criteria provided, single submitter	ClinGen:CA10603729
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