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.6496C>T (p.Gln2166Ter)	KMT2D	Pathogenic	12	49435057	49435057	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter)	KMT2D	Pathogenic	12	49435769	49435769	C	T	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.5199_5206dup (p.Pro1736fs)	KMT2D	Pathogenic	12	49437763	49437764	G	GGCAGGTCA	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.4525_4528del (p.Ile1509fs)	KMT2D	Pathogenic	12	49440098	49440101	CAGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.4400del (p.Gly1467fs)	KMT2D	Pathogenic	12	49440410	49440410	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter)	KMT2D	Pathogenic	12	49443583	49443583	G	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1825del (p.Ser609fs)	KMT2D	Pathogenic	12	49445641	49445641	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)	KMT2D	Pathogenic	12	49445937	49445937	G	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs)	KMT2D	Pathogenic	12	49445995	49445998	TCCTC	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.713del (p.Leu238fs)	KMT2D	Pathogenic	12	49447385	49447385	CA	C	criteria provided, single submitter	-