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.15079C>T (p.Arg5027Ter)	KMT2D	Pathogenic	12	49420670	49420670	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277305
single nucleotide variant	NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter)	KMT2D	Pathogenic	12	49426643	49426643	G	A	criteria provided, single submitter	ClinGen:CA277249
Deletion	NM_003482.4(KMT2D):c.9540del (p.Glu3181fs)	KMT2D	Pathogenic	12	49431599	49431599	CA	C	criteria provided, single submitter	ClinGen:CA277308
Duplication	NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs)	KMT2D	Pathogenic	12	49432663	49432664	C	CTGCTGTTGCCTGTTGTTGCTGCCACAGTTGT	criteria provided, single submitter	ClinGen:CA277089
Deletion	NM_003482.4(KMT2D):c.6172del (p.Ala2058fs)	KMT2D	Pathogenic	12	49435711	49435711	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277116
Duplication	NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs)	KMT2D	Pathogenic	12	49435711	49435712	C	CT	criteria provided, single submitter	ClinGen:CA277432
Duplication	NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs)	KMT2D	Pathogenic	12	49438287	49438288	T	TC	criteria provided, single submitter	ClinGen:CA277217
Deletion	NM_003482.4(KMT2D):c.3591del (p.Thr1198fs)	KMT2D	Pathogenic	12	49443780	49443780	TG	T	criteria provided, single submitter	ClinGen:CA277379
Duplication	NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs)	KMT2D	Pathogenic	12	49443785	49443786	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA277167
Insertion	NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs)	KMT2D	Pathogenic	12	49444416	49444417	T	TA	criteria provided, single submitter	ClinGen:CA277178