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.5269C>T (p.Arg1757Ter)	KMT2D	Pathogenic	12	49437701	49437701	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384634832
single nucleotide variant	NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter)	KMT2D	Pathogenic	12	49441775	49441775	G	T	criteria provided, single submitter	ClinGen:CA384649236
Duplication	NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs)	KMT2D	Pathogenic	12	49447829	49447830	C	CCG	criteria provided, single submitter	ClinGen:CA645372914
single nucleotide variant	NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe)	KMT2D	Likely pathogenic	12	49448734	49448734	G	A	criteria provided, single submitter	ClinGen:CA384690291
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.8841_8844del (p.His2947fs)	KMT2D	Pathogenic	12	49432295	49432298	TTGGA	T	criteria provided, single submitter	ClinGen:CA658653804
single nucleotide variant	NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys)	KMT2D	Likely pathogenic	12	49416063	49416063	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384676632
single nucleotide variant	NM_003482.4(KMT2D):c.15854C>G (p.Pro5285Arg)	KMT2D	Likely pathogenic	12	49418660	49418660	G	C	criteria provided, single submitter	ClinGen:CA384683061
single nucleotide variant	NM_003482.4(KMT2D):c.14194C>T (p.Gln4732Ter)	KMT2D	Pathogenic	12	49422901	49422901	G	A	criteria provided, single submitter	ClinGen:CA384697188
single nucleotide variant	NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro)	KMT2D	Likely pathogenic	12	49428016	49428016	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384728188,OMIM:602113.0010