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.12406C>T (p.Gln4136Ter)	KMT2D	Pathogenic	12	49426082	49426082	G	A	criteria provided, single submitter	ClinGen:CA222003
single nucleotide variant	NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter)	KMT2D	Pathogenic	12	49426058	49426058	G	A	criteria provided, single submitter	ClinGen:CA222005
Duplication	NM_003482.4(KMT2D):c.1300dup (p.Leu434fs)	KMT2D	Pathogenic	12	49446165	49446166	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA222011
Deletion	NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)	KMT2D	Pathogenic/Likely pathogenic	12	49425456	49425456	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222012
Duplication	NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter)	KMT2D	Pathogenic	12	49421648	49421649	C	CA	criteria provided, single submitter	ClinGen:CA222019
single nucleotide variant	NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)	KMT2D	Pathogenic	12	49421039	49421039	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA222020
Duplication	NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs)	KMT2D	Pathogenic	12	49420718	49420719	C	CT	criteria provided, single submitter	ClinGen:CA222022
single nucleotide variant	NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser)	KMT2D	Likely pathogenic	12	49420645	49420645	C	G	criteria provided, single submitter	ClinGen:CA222025
single nucleotide variant	NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)	KMT2D	Pathogenic/Likely pathogenic	12	49420108	49420108	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222037,UniProtKB:O14686#VAR_063832
Deletion	NM_003482.4(KMT2D):c.16109del (p.Gly5370fs)	KMT2D	Pathogenic	12	49416602	49416602	GC	G	criteria provided, single submitter	ClinGen:CA222043