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.3019_3020del (p.Ser1007fs)	KMT2D	Likely pathogenic	12	49444351	49444352	GGA	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter)	KMT2D	Likely pathogenic	12	49444552	49444552	G	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.2578_2579del (p.Leu860fs)	KMT2D	Likely pathogenic	12	49444887	49444888	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter)	KMT2D	Likely pathogenic	12	49444920	49444920	G	T	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)	KMT2D	Pathogenic/Likely pathogenic	12	49445202	49445203	C	CG	criteria provided, multiple submitters, no conflicts	-
Indel	NM_003482.4(KMT2D):c.2110_2113delinsTC (p.Asp704fs)	KMT2D	Likely pathogenic	12	49445353	49445356	AGTC	GA	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1940del (p.Pro647fs)	KMT2D	Pathogenic/Likely pathogenic	12	49445526	49445526	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.1301del (p.Leu434fs)	KMT2D	Pathogenic	12	49446165	49446165	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.702del (p.Pro235fs)	KMT2D	Likely pathogenic	12	49447396	49447396	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter)	KMT2D	Likely pathogenic	12	49448177	49448177	C	T	criteria provided, single submitter	-