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.5135_5136del (p.Lys1712fs)	KMT2D	Likely pathogenic	12	49438035	49438036	CCT	C	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.5058dup (p.Arg1687fs)	KMT2D	Likely pathogenic	12	49438210	49438211	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter)	KMT2D	Likely pathogenic	12	49438728	49438728	C	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.4710del (p.Glu1571fs)	KMT2D	Likely pathogenic	12	49439734	49439734	CT	C	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)	KMT2D	Pathogenic/Likely pathogenic	12	49440414	49440415	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.4379del (p.Pro1460fs)	KMT2D	Pathogenic	12	49440431	49440431	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=)	KMT2D	Likely pathogenic	12	49442442	49442442	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro)	KMT2D	Likely pathogenic	12	49442443	49442443	T	G	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.3789_3790del (p.Leu1264fs)	KMT2D	Likely pathogenic	12	49443581	49443582	AGT	A	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.3649dup (p.Ser1217fs)	KMT2D	Likely pathogenic	12	49443721	49443722	C	CT	criteria provided, single submitter	-