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.16019G>A (p.Arg5340Gln)	KMT2D	Pathogenic/Likely pathogenic	12	49418394	49418394	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.1940del (p.Pro647fs)	KMT2D	Pathogenic/Likely pathogenic	12	49445526	49445526	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)	KMT2D	Pathogenic/Likely pathogenic	12	49445202	49445203	C	CG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)	KMT2D	Pathogenic/Likely pathogenic	12	49440414	49440415	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49437418	49437418	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)	KMT2D	Pathogenic/Likely pathogenic	12	49436873	49436876	CCTGT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.6992del (p.Leu2331fs)	KMT2D	Pathogenic/Likely pathogenic	12	49434561	49434561	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49432738	49432738	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49427489	49427489	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426019	49426019	G	A	criteria provided, multiple submitters, no conflicts	-