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
Deletion	NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs)	KDM6A	Pathogenic	X	44966753	44966756	GAACC	G	criteria provided, single submitter	ClinGen:CA16621409
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.4060C>T (p.Gln1354Ter)	KDM6A	Pathogenic	X	44966680	44966680	C	T	criteria provided, single submitter	-
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
single nucleotide variant	NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter)	KDM6A	Pathogenic	X	44950028	44950028	C	A	criteria provided, single submitter	ClinGen:CA412808311
single nucleotide variant	NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter)	KDM6A	Likely pathogenic	X	44950000	44950000	G	T	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.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.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.3754C>T (p.Leu1252Phe)	KDM6A	Likely pathogenic	X	44949037	44949037	C	T	criteria provided, single submitter	ClinGen:CA16609406