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
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
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
single nucleotide variant	NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)	KMT2D	Likely pathogenic	12	49416064	49416064	T	A	criteria provided, single submitter	ClinGen:CA271610
single nucleotide variant	NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter)	KMT2D	Pathogenic	12	49418470	49418470	G	A	criteria provided, single submitter	ClinGen:CA271608
single nucleotide variant	NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter)	KMT2D	Pathogenic	12	49418670	49418670	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271606
single nucleotide variant	NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter)	KMT2D	Pathogenic	12	49418723	49418723	C	T	criteria provided, single submitter	ClinGen:CA271604
single nucleotide variant	NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)	KMT2D	Pathogenic	12	49420554	49420554	C	T	criteria provided, single submitter	ClinGen:CA271598
single nucleotide variant	NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49420688	49420688	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234164
Deletion	NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs)	KMT2D	Pathogenic/Likely pathogenic	12	49424065	49424066	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271595
single nucleotide variant	NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)	KMT2D	Pathogenic	12	49424741	49424741	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271593