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.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.16412+1G>T	KMT2D	Pathogenic	12	49416062	49416062	C	A	criteria provided, single submitter	ClinGen:CA275317
single nucleotide variant	NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)	KMT2D	Likely pathogenic	12	49415934	49415934	C	A	criteria provided, single submitter	ClinGen:CA271613
Deletion	NM_003482.4(KMT2D):c.16437del (p.Asn5480fs)	KMT2D	Pathogenic	12	49415910	49415910	TA	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs)	KMT2D	Pathogenic	12	49415906	49415909	CAGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271615
Deletion	NM_003482.4(KMT2D):c.16469_16472del (p.Lys5490fs)	KMT2D	Pathogenic	12	49415875	49415878	CTCTT	C	criteria provided, single submitter	ClinGen:CA10603161
Deletion	NM_003482.4(KMT2D):c.16470del (p.Glu5491fs)	KMT2D	Likely pathogenic	12	49415877	49415877	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	KMT2D	Pathogenic	12	49415846	49415846	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603301
single nucleotide variant	NM_003482.4(KMT2D):c.16522-1G>A	KMT2D	Pathogenic	12	49415656	49415656	C	T	criteria provided, single submitter	ClinGen:CA16606629
single nucleotide variant	NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	KDM6A	Pathogenic	X	44969369	44969369	C	T	criteria provided, single submitter	-