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_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter)	KMT2D	Pathogenic	12	49428020	49428020	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln)	KMT2D	Likely pathogenic	12	49440451	49440451	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter)	KMT2D	Pathogenic	12	49426607	49426607	G	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.8478_8488del (p.Thr2827fs)	KMT2D	Pathogenic	12	49432651	49432661	CGCATGGAGGTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter)	KMT2D	Pathogenic	12	49437707	49437707	G	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.3903del (p.Lys1301fs)	KMT2D	Pathogenic	12	49443468	49443468	GT	G	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.2317dup (p.Gln773fs)	KMT2D	Pathogenic	12	49445148	49445149	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3094+2T>C	KDM6A	Likely pathogenic	X	44937752	44937752	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp)	KDM6A	Pathogenic	X	44949994	44949994	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter)	KMT2D	Pathogenic	12	49435983	49435983	G	A	criteria provided, single submitter	-