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.62del (p.Glu21fs)	KDM6A	Likely pathogenic	X	44732859	44732859	GA	G	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.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.2988+1G>A	KDM6A	Pathogenic	X	44936072	44936072	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412799350
Deletion	NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs)	KDM6A	Pathogenic	X	44929362	44929363	TCA	T	criteria provided, single submitter	ClinGen:CA658799730
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
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.2231_2232del (p.Gln744fs)	KDM6A	Pathogenic	X	44928975	44928976	CAG	C	criteria provided, single submitter	ClinGen:CA658799729
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
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