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.8059C>T (p.Arg2687Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49433388	49433388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384745548
Deletion	NM_003482.4(KMT2D):c.7325del (p.Pro2442fs)	KMT2D	Pathogenic	12	49434228	49434228	AG	A	criteria provided, single submitter	ClinGen:CA658658143
Indel	NM_003482.4(KMT2D):c.3900_3906+1delinsGAAACAGT	KMT2D	Pathogenic	12	49443464	49443471	CCTGTTTG	ACTGTTTC	criteria provided, single submitter	ClinGen:CA658658147
Deletion	NM_003482.4(KMT2D):c.3109_3110del (p.Ser1037fs)	KMT2D	Pathogenic	12	49444261	49444262	GGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658148
single nucleotide variant	NM_003482.4(KMT2D):c.401-2A>T	KMT2D	Pathogenic	12	49448201	49448201	T	A	criteria provided, single submitter	ClinGen:CA384687590
Duplication	NM_003482.4(KMT2D):c.303dup (p.Ser102fs)	KMT2D	Pathogenic	12	49448407	49448408	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658153
single nucleotide variant	NM_003482.4(KMT2D):c.14688C>A (p.Tyr4896Ter)	KMT2D	Pathogenic	12	49421061	49421061	G	T	criteria provided, single submitter	ClinGen:CA384692235
Duplication	NM_003482.4(KMT2D):c.13833_13837dup (p.Lys4613fs)	KMT2D	Pathogenic	12	49424385	49424386	T	TTGGTA	criteria provided, single submitter	ClinGen:CA658658151
single nucleotide variant	NM_003482.4(KMT2D):c.12019C>T (p.Gln4007Ter)	KMT2D	Pathogenic	12	49426469	49426469	G	A	criteria provided, single submitter	ClinGen:CA384713293
Duplication	NM_003482.4(KMT2D):c.8207_8210dup (p.Pro2738fs)	KMT2D	Pathogenic	12	49433236	49433237	G	GGTCT	criteria provided, single submitter	ClinGen:CA658656292