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.2141C>A (p.Ser714Ter)	KMT2D	Pathogenic	12	49445325	49445325	G	T	criteria provided, single submitter	ClinGen:CA384668238
Deletion	NM_003482.4(KMT2D):c.2164del (p.Glu722fs)	KMT2D	Pathogenic	12	49445302	49445302	TC	T	criteria provided, single submitter	ClinGen:CA16619543
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.2317dup (p.Gln773fs)	KMT2D	Pathogenic	12	49445148	49445149	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.2317C>T (p.Gln773Ter)	KMT2D	Pathogenic	12	49445149	49445149	G	A	criteria provided, single submitter	ClinGen:CA6548289
Deletion	NM_003482.4(KMT2D):c.2533del (p.Arg845fs)	KMT2D	Pathogenic	12	49444933	49444933	CG	C	criteria provided, single submitter	ClinGen:CA658797903
single nucleotide variant	NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter)	KMT2D	Likely pathogenic	12	49444920	49444920	G	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.2578_2579del (p.Leu860fs)	KMT2D	Likely pathogenic	12	49444887	49444888	CAG	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.2579del (p.Leu860fs)	KMT2D	Pathogenic	12	49444887	49444887	CA	C	criteria provided, single submitter	-
Indel	NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs)	KMT2D	Pathogenic	12	49444841	49444842	AG	TTTTGGCCT	criteria provided, single submitter	ClinGen:CA658797902