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.2231_2232del (p.Gln744fs)	KDM6A	Pathogenic	X	44928975	44928976	CAG	C	criteria provided, single submitter	ClinGen:CA658799729
Duplication	NM_001291415.2(KDM6A):c.2306dup (p.Ser770fs)	KDM6A	Pathogenic	X	44929049	44929050	G	GA	criteria provided, single submitter	ClinGen:CA10603484
single nucleotide variant	NM_001291415.2(KDM6A):c.2356A>G (p.Thr786Ala)	KDM6A	Likely pathogenic	X	44929100	44929100	A	G	criteria provided, single submitter	ClinGen:CA10392500
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
Deletion	NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs)	KDM6A	Pathogenic	X	44929362	44929363	TCA	T	criteria provided, single submitter	ClinGen:CA658799730
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
Duplication	NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs)	KDM6A	Pathogenic	X	44929545	44929546	T	TAC	criteria provided, single submitter	-
Duplication	NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs)	KDM6A	Pathogenic	X	44936066	44936067	A	AT	criteria provided, single submitter	ClinGen:CA10603729
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>C	KDM6A	Pathogenic	X	44936072	44936072	G	C	criteria provided, single submitter	ClinGen:CA412799348