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
Duplication	NM_003482.4(KMT2D):c.836dup (p.Cys279fs)	KMT2D	Pathogenic	12	49447261	49447262	G	GC	criteria provided, single submitter	ClinGen:CA277409
Deletion	NM_003482.4(KMT2D):c.303del (p.Ser102fs)	KMT2D	Pathogenic	12	49448408	49448408	TC	T	criteria provided, single submitter	ClinGen:CA276944
Deletion	NM_001291415.2(KDM6A):c.1699del (p.Val567fs)	KDM6A	Pathogenic	X	44922682	44922682	AG	A	criteria provided, single submitter	ClinGen:CA206658
Duplication	NM_001291415.2(KDM6A):c.2988+2dup	KDM6A	Likely pathogenic	X	44936072	44936073	G	GT	criteria provided, single submitter	ClinGen:CA209510
single nucleotide variant	NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)	KDM6A	Likely pathogenic	X	44949074	44949074	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA206562
single nucleotide variant	NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)	KMT2D	Pathogenic	12	49427213	49427213	G	A	criteria provided, single submitter	ClinGen:CA279042
single nucleotide variant	NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)	KDM6A	Pathogenic/Likely pathogenic	X	44950066	44950066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278963
single nucleotide variant	NM_003482.4(KMT2D):c.10252G>T (p.Glu3418Ter)	KMT2D	Pathogenic	12	49428698	49428698	C	A	criteria provided, single submitter	ClinGen:CA384730029
Deletion	NM_003482.4(KMT2D):c.1634del (p.Leu545fs)	KMT2D	Pathogenic	12	49445832	49445832	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588551
Deletion	NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs)	KDM6A	Pathogenic	X	44929224	44929227	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588786