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.10784A>G (p.Tyr3595Cys)	KMT2D	Likely pathogenic	12	49427704	49427704	T	C	criteria provided, single submitter	ClinGen:CA384726218
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
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.10574T>C (p.Leu3525Pro)	KMT2D	Likely pathogenic	12	49428016	49428016	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384728188,OMIM:602113.0010
single nucleotide variant	NM_003482.4(KMT2D):c.840-2A>G	KMT2D	Likely pathogenic	12	49447106	49447106	T	C	criteria provided, single submitter	ClinGen:CA384680417
single nucleotide variant	NM_003482.4(KMT2D):c.15921+1G>A	KMT2D	Likely pathogenic	12	49418592	49418592	C	T	criteria provided, single submitter	ClinGen:CA384682340
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
Insertion	NM_003482.4(KMT2D):c.13378_13379insCA (p.His4460fs)	KMT2D	Likely pathogenic	12	49425109	49425110	T	TTG	criteria provided, single submitter	ClinGen:CA658683783
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