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.3754C>T (p.Leu1252Phe)	KDM6A	Likely pathogenic	X	44949037	44949037	C	T	criteria provided, single submitter	ClinGen:CA16609406
single nucleotide variant	NM_003482.4(KMT2D):c.12661C>T (p.Gln4221Ter)	KMT2D	Pathogenic	12	49425827	49425827	G	A	criteria provided, single submitter	ClinGen:CA16609417
Deletion	NM_003482.4(KMT2D):c.13652_13660del (p.Leu4551_Gln4554delinsTer)	KMT2D	Pathogenic	12	49424687	49424695	TGTTTCAGCA	T	criteria provided, single submitter	ClinGen:CA16619534
Duplication	NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs)	KMT2D	Pathogenic	12	49431536	49431537	C	CA	criteria provided, single submitter	ClinGen:CA16619536
Deletion	NM_003482.4(KMT2D):c.9099del (p.Asn3034fs)	KMT2D	Pathogenic	12	49432040	49432040	TG	T	criteria provided, single submitter	ClinGen:CA16619537
Deletion	NM_003482.4(KMT2D):c.5278_5279del (p.Lys1760fs)	KMT2D	Pathogenic	12	49437691	49437692	CTT	C	criteria provided, single submitter	ClinGen:CA16619539
single nucleotide variant	NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr)	KMT2D	Pathogenic	12	49441836	49441836	C	T	criteria provided, single submitter	ClinGen:CA16619540
Deletion	NM_003482.4(KMT2D):c.3730del (p.Val1244fs)	KMT2D	Pathogenic	12	49443641	49443641	AC	A	criteria provided, single submitter	ClinGen:CA16619541
Deletion	NM_003482.4(KMT2D):c.2713del (p.Glu905fs)	KMT2D	Pathogenic	12	49444753	49444753	TC	T	criteria provided, single submitter	ClinGen:CA16619542
Deletion	NM_003482.4(KMT2D):c.2164del (p.Glu722fs)	KMT2D	Pathogenic	12	49445302	49445302	TC	T	criteria provided, single submitter	ClinGen:CA16619543