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.11755C>T (p.Gln3919Ter)	KMT2D	Pathogenic	12	49426733	49426733	G	A	criteria provided, single submitter	ClinGen:CA384715774
single nucleotide variant	NM_003482.4(KMT2D):c.4237-2A>G	KMT2D	Likely pathogenic	12	49440575	49440575	T	C	criteria provided, single submitter	ClinGen:CA384647697
single nucleotide variant	NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)	KDM6A	Pathogenic	X	44938468	44938468	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412801240
Insertion	NM_003482.4(KMT2D):c.13378_13379insCA (p.His4460fs)	KMT2D	Likely pathogenic	12	49425109	49425110	T	TTG	criteria provided, single submitter	ClinGen:CA658683783
Duplication	NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs)	KMT2D	Pathogenic	12	49427394	49427395	G	GC	criteria provided, single submitter	ClinGen:CA658683785
single nucleotide variant	NM_003482.4(KMT2D):c.15785-10T>G	KMT2D	Likely pathogenic	12	49418739	49418739	A	C	criteria provided, single submitter	ClinGen:CA658683788
single nucleotide variant	NM_003482.4(KMT2D):c.12730C>T (p.Gln4244Ter)	KMT2D	Pathogenic	12	49425758	49425758	G	A	criteria provided, single submitter	ClinGen:CA384709599
single nucleotide variant	NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter)	KMT2D	Pathogenic	12	49425821	49425821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384709963
single nucleotide variant	NM_003482.4(KMT2D):c.6664C>T (p.Gln2222Ter)	KMT2D	Pathogenic	12	49434889	49434889	G	A	criteria provided, single submitter	ClinGen:CA384750127
single nucleotide variant	NM_001291415.2(KDM6A):c.398T>G (p.Leu133Ter)	KDM6A	Pathogenic	X	44870219	44870219	T	G	criteria provided, single submitter	ClinGen:CA413022096