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.1825del (p.Ser609fs)	KMT2D	Pathogenic	12	49445641	49445641	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)	KMT2D	Pathogenic	12	49445937	49445937	G	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs)	KMT2D	Pathogenic	12	49445995	49445998	TCCTC	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.713del (p.Leu238fs)	KMT2D	Pathogenic	12	49447385	49447385	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.5868-1G>A	KMT2D	Likely pathogenic	12	49436114	49436114	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.14076-2A>C	KMT2D	Likely pathogenic	12	49423021	49423021	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.5319+1G>A	KMT2D	Likely pathogenic	12	49437650	49437650	C	T	criteria provided, single submitter	-