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.1529C>G (p.Ser510Ter)	KMT2D	Pathogenic	12	49445937	49445937	G	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1634del (p.Leu545fs)	KMT2D	Pathogenic	12	49445832	49445832	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588551
Duplication	NM_003482.4(KMT2D):c.1769dup (p.Met590fs)	KMT2D	Likely pathogenic	12	49445696	49445697	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter)	KMT2D	Pathogenic	12	49445653	49445653	C	A	criteria provided, single submitter	ClinGen:CA271618
Deletion	NM_003482.4(KMT2D):c.1825del (p.Ser609fs)	KMT2D	Pathogenic	12	49445641	49445641	GA	G	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.1845dup (p.Pro616fs)	KMT2D	Pathogenic	12	49445620	49445621	G	GA	criteria provided, single submitter	ClinGen:CA658653806
Deletion	NM_003482.4(KMT2D):c.1940del (p.Pro647fs)	KMT2D	Pathogenic/Likely pathogenic	12	49445526	49445526	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003482.4(KMT2D):c.1940dup (p.Pro648fs)	KMT2D	Pathogenic	12	49445525	49445526	T	TG	criteria provided, single submitter	ClinGen:CA6548387
Deletion	NM_003482.4(KMT2D):c.1966del (p.Leu656fs)	KMT2D	Pathogenic	12	49445500	49445500	AG	A	criteria provided, single submitter	ClinGen:CA10604033
Indel	NM_003482.4(KMT2D):c.2110_2113delinsTC (p.Asp704fs)	KMT2D	Likely pathogenic	12	49445353	49445356	AGTC	GA	criteria provided, single submitter	-