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.15467A>G (p.Tyr5156Cys)	KMT2D	Likely pathogenic	12	49420282	49420282	T	C	criteria provided, single submitter	ClinGen:CA16606292
single nucleotide variant	NM_003482.4(KMT2D):c.16012T>C (p.Cys5338Arg)	KMT2D	Likely pathogenic	12	49418401	49418401	A	G	criteria provided, single submitter	ClinGen:CA16606557
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_001291415.2(KDM6A):c.3835T>C (p.Trp1279Arg)	KDM6A	Likely pathogenic	X	44949118	44949118	T	C	criteria provided, single submitter	ClinGen:CA16621408
single nucleotide variant	NM_003482.4(KMT2D):c.49+2T>A	KMT2D	Likely pathogenic	12	49449057	49449057	A	T	criteria provided, single submitter	ClinGen:CA384691171
single nucleotide variant	NM_001291415.2(KDM6A):c.748+1G>A	KDM6A	Likely pathogenic	X	44911048	44911048	G	A	criteria provided, single submitter	ClinGen:CA412778803
Insertion	NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs)	KMT2D	Likely pathogenic	12	49418593	49418594	T	TA	criteria provided, single submitter	ClinGen:CA658683787
single nucleotide variant	NM_003482.4(KMT2D):c.14515+1G>T	KMT2D	Likely pathogenic	12	49421791	49421791	C	A	criteria provided, single submitter	ClinGen:CA384694833
single nucleotide variant	NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter)	KMT2D	Likely pathogenic	12	49426688	49426688	G	A	criteria provided, single submitter	ClinGen:CA384715238
single nucleotide variant	NM_003482.4(KMT2D):c.10356-12G>A	KMT2D	Likely pathogenic	12	49428461	49428461	C	T	criteria provided, single submitter	ClinGen:CA645372912