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.133del (p.Ser45fs)	KMT2D	Pathogenic	12	49448726	49448726	CT	C	criteria provided, single submitter	ClinGen:CA273348
single nucleotide variant	NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe)	KMT2D	Likely pathogenic	12	49448734	49448734	G	A	criteria provided, single submitter	ClinGen:CA384690291
single nucleotide variant	NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter)	KMT2D	Likely pathogenic	12	49448789	49448789	C	A	criteria provided, single submitter	ClinGen:CA384690933
single nucleotide variant	NM_003482.4(KMT2D):c.50-1G>T	KMT2D	Likely pathogenic	12	49448810	49448810	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.49+2T>A	KMT2D	Likely pathogenic	12	49449057	49449057	A	T	criteria provided, single submitter	ClinGen:CA384691171
Deletion	NM_003482.4(KMT2D):c.49+1del	KMT2D	Likely pathogenic	12	49449058	49449058	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.2T>C (p.Met1Thr)	KMT2D	Likely pathogenic	12	49449106	49449106	A	G	criteria provided, single submitter	ClinGen:CA16603307