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.12715C>T (p.Gln4239Ter)	KMT2D	Pathogenic	12	49425773	49425773	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter)	KMT2D	Pathogenic	12	49426517	49426517	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter)	KMT2D	Pathogenic	12	49426520	49426520	G	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.9947del (p.Gly3316fs)	KMT2D	Pathogenic	12	49431192	49431192	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter)	KMT2D	Pathogenic	12	49432186	49432186	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter)	KMT2D	Pathogenic	12	49433247	49433247	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter)	KMT2D	Pathogenic	12	49433509	49433509	G	A	criteria provided, single submitter	-
Indel	NM_003482.4(KMT2D):c.7183_7214delinsACT (p.Cys2395fs)	KMT2D	Pathogenic	12	49434339	49434370	GAGGGCAGTGAGCGAGGGGGCAGAGCACAGCA	AGT	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.6991dup (p.Leu2331fs)	KMT2D	Pathogenic	12	49434561	49434562	A	AG	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.6508del (p.Gln2170fs)	KMT2D	Pathogenic	12	49435045	49435045	TG	T	criteria provided, single submitter	-