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
Deletion	NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)	KMT2D	Pathogenic/Likely pathogenic	12	49446134	49446137	CAGGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271589
single nucleotide variant	NM_003482.4(KMT2D):c.400+1G>C	KMT2D	Pathogenic	12	49448310	49448310	C	G	criteria provided, single submitter	ClinGen:CA271633
single nucleotide variant	NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter)	KMT2D	Pathogenic	12	49448455	49448455	C	A	criteria provided, single submitter	ClinGen:CA271622
single nucleotide variant	NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)	KMT2D	Pathogenic	12	49420493	49420493	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234162
single nucleotide variant	NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)	KMT2D	Pathogenic	12	49443617	49443617	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234183
single nucleotide variant	NM_003482.4(KMT2D):c.4009G>T (p.Glu1337Ter)	KMT2D	Pathogenic	12	49442899	49442899	C	A	criteria provided, single submitter	ClinGen:CA234180
single nucleotide variant	NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter)	KMT2D	Pathogenic	12	49432651	49432651	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234172
single nucleotide variant	NM_003482.4(KMT2D):c.2797+1G>A	KMT2D	Pathogenic	12	49444668	49444668	C	T	criteria provided, single submitter	ClinGen:CA234185
Deletion	NM_003482.4(KMT2D):c.133del (p.Ser45fs)	KMT2D	Pathogenic	12	49448726	49448726	CT	C	criteria provided, single submitter	ClinGen:CA273348
single nucleotide variant	NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)	KMT2D	Pathogenic	12	49431178	49431178	G	A	criteria provided, single submitter	ClinGen:CA274862