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.3740C>T (p.Pro1247Leu)	KDM6A	Likely pathogenic	X	44949023	44949023	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	KDM6A	Pathogenic	X	44969369	44969369	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.5868-1G>A	KMT2D	Likely pathogenic	12	49436114	49436114	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.14076-2A>C	KMT2D	Likely pathogenic	12	49423021	49423021	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.5319+1G>A	KMT2D	Likely pathogenic	12	49437650	49437650	C	T	criteria provided, single submitter	-
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.3300+1G>A	KDM6A	Likely pathogenic	X	44938597	44938597	G	A	criteria provided, single submitter	-