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.3740C>T (p.Pro1247Leu)	KDM6A	Likely pathogenic	X	44949023	44949023	C	T	criteria provided, single submitter	-
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
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.3300+1G>A	KDM6A	Likely pathogenic	X	44938597	44938597	G	A	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.3094+2T>C	KDM6A	Likely pathogenic	X	44937752	44937752	T	C	criteria provided, single submitter	-
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.2988+1G>A	KDM6A	Pathogenic	X	44936072	44936072	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412799350
single nucleotide variant	NM_001291415.2(KDM6A):c.2988+1G>C	KDM6A	Pathogenic	X	44936072	44936072	G	C	criteria provided, single submitter	ClinGen:CA412799348
Duplication	NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs)	KDM6A	Pathogenic	X	44936066	44936067	A	AT	criteria provided, single submitter	ClinGen:CA10603729