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.303del (p.Ser102fs)	KMT2D	Pathogenic	12	49448408	49448408	TC	T	criteria provided, single submitter	ClinGen:CA276944
single nucleotide variant	NM_003482.4(KMT2D):c.400+1G>C	KMT2D	Pathogenic	12	49448310	49448310	C	G	criteria provided, single submitter	ClinGen:CA271633
single nucleotide variant	NM_003482.4(KMT2D):c.401-3A>G	KMT2D	Pathogenic	12	49448202	49448202	T	C	criteria provided, single submitter	ClinGen:CA10603275
single nucleotide variant	NM_003482.4(KMT2D):c.401-2A>T	KMT2D	Pathogenic	12	49448201	49448201	T	A	criteria provided, single submitter	ClinGen:CA384687590
single nucleotide variant	NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter)	KMT2D	Likely pathogenic	12	49448177	49448177	C	T	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs)	KMT2D	Pathogenic	12	49447829	49447830	C	CCG	criteria provided, single submitter	ClinGen:CA645372914
Deletion	NM_003482.4(KMT2D):c.702del (p.Pro235fs)	KMT2D	Likely pathogenic	12	49447396	49447396	GC	G	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.709del (p.Glu237fs)	KMT2D	Pathogenic	12	49447389	49447389	TC	T	criteria provided, single submitter	ClinGen:CA16619545
Deletion	NM_003482.4(KMT2D):c.713del (p.Leu238fs)	KMT2D	Pathogenic	12	49447385	49447385	CA	C	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.836dup (p.Cys279fs)	KMT2D	Pathogenic	12	49447261	49447262	G	GC	criteria provided, single submitter	ClinGen:CA277409