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.14189G>A (p.Trp4730Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49422906	49422906	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.11422del (p.Ala3808fs)	KMT2D	Pathogenic/Likely pathogenic	12	49427066	49427066	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797911
single nucleotide variant	NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49416133	49416133	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384677189
single nucleotide variant	NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426745	49426745	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384715929
single nucleotide variant	NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49421036	49421036	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384692093
single nucleotide variant	NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49433388	49433388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384745548
single nucleotide variant	NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426220	49426220	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384712383
Deletion	NM_003482.4(KMT2D):c.1143del (p.Thr382fs)	KMT2D	Pathogenic/Likely pathogenic	12	49446462	49446462	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619544
single nucleotide variant	NM_003482.4(KMT2D):c.14075+1G>A	KMT2D	Pathogenic/Likely pathogenic	12	49423183	49423183	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654764
single nucleotide variant	NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)	KMT2D	Pathogenic/Likely pathogenic	12	49420288	49420288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605587,UniProtKB:O14686#VAR_074253