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.15143G>A (p.Arg5048His)	KMT2D	Pathogenic/Likely pathogenic	12	49420606	49420606	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603305,UniProtKB:O14686#VAR_074251
Deletion	NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer)	KMT2D	Pathogenic/Likely pathogenic	12	49446166	49446166	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603270
single nucleotide variant	NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)	KDM6A	Pathogenic/Likely pathogenic	X	44950066	44950066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278963
Deletion	NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)	KMT2D	Pathogenic/Likely pathogenic	12	49446134	49446137	CAGGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271589
single nucleotide variant	NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49433394	49433394	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271659
Deletion	NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs)	KMT2D	Pathogenic/Likely pathogenic	12	49433272	49433276	TGCTGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271661
single nucleotide variant	NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49432396	49432396	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271664
single nucleotide variant	NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49427198	49427198	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271570
Deletion	NM_003482.4(KMT2D):c.12896del (p.Gly4299fs)	KMT2D	Pathogenic/Likely pathogenic	12	49425592	49425592	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271583
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