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.1581+1G>T	KDM6A	Likely pathogenic	X	44920665	44920665	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.1015C>T (p.Gln339Ter)	KDM6A	Pathogenic	X	44918532	44918532	C	T	criteria provided, single submitter	ClinGen:CA412782016
single nucleotide variant	NM_001291415.2(KDM6A):c.748+1G>A	KDM6A	Likely pathogenic	X	44911048	44911048	G	A	criteria provided, single submitter	ClinGen:CA412778803
single nucleotide variant	NM_001291415.2(KDM6A):c.398T>G (p.Leu133Ter)	KDM6A	Pathogenic	X	44870219	44870219	T	G	criteria provided, single submitter	ClinGen:CA413022096
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
Duplication	NM_001291415.2(KDM6A):c.75_90dup (p.Ser31fs)	KDM6A	Likely pathogenic	X	44732871	44732872	T	TGGCGGCGGGAAAAGCG	criteria provided, single submitter	ClinGen:CA658799727
Deletion	NM_001291415.2(KDM6A):c.62del (p.Glu21fs)	KDM6A	Likely pathogenic	X	44732859	44732859	GA	G	criteria provided, single submitter	-