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.2128C>T (p.Arg710Ter)	KDM6A	Pathogenic	X	44928872	44928872	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp)	KMT2D	Pathogenic	12	49416417	49416417	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.8366+1G>T	KMT2D	Pathogenic	12	49433004	49433004	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)	KMT2D	Pathogenic	12	49427441	49427441	G	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.2579del (p.Leu860fs)	KMT2D	Pathogenic	12	49444887	49444887	CA	C	criteria provided, single submitter	-
Duplication	NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs)	KDM6A	Pathogenic	X	44929545	44929546	T	TAC	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.8229+1G>A	KMT2D	Pathogenic	12	49433217	49433217	C	T	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.15050dup (p.Thr5018fs)	KMT2D	Pathogenic	12	49420698	49420699	G	GC	criteria provided, single submitter	-
Indel	NM_003482.4(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs)	KMT2D	Pathogenic	12	49420924	49420926	GCC	AACA	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.13895dup (p.Ser4633fs)	KMT2D	Pathogenic	12	49424166	49424167	T	TG	criteria provided, single submitter	-