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.840-2A>G	KMT2D	Likely pathogenic	12	49447106	49447106	T	C	criteria provided, single submitter	ClinGen:CA384680417
Deletion	NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer)	KMT2D	Pathogenic	12	49446999	49446999	TC	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1143del (p.Thr382fs)	KMT2D	Pathogenic/Likely pathogenic	12	49446462	49446462	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619544
single nucleotide variant	NM_003482.4(KMT2D):c.1259-2A>G	KMT2D	Pathogenic	12	49446209	49446209	T	C	criteria provided, single submitter	ClinGen:CA16607303
Deletion	NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer)	KMT2D	Pathogenic/Likely pathogenic	12	49446166	49446166	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603270
Duplication	NM_003482.4(KMT2D):c.1300dup (p.Leu434fs)	KMT2D	Pathogenic	12	49446165	49446166	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA222011
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.1329_1332del (p.Pro444fs)	KMT2D	Pathogenic/Likely pathogenic	12	49446134	49446137	CAGGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271589
Deletion	NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs)	KMT2D	Pathogenic	12	49446120	49446121	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658152
Deletion	NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs)	KMT2D	Pathogenic	12	49445995	49445998	TCCTC	T	criteria provided, single submitter	-