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.5104C>T (p.Arg1702Ter)	KMT2D	Pathogenic	12	49438067	49438067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605492
single nucleotide variant	NM_001291415.2(KDM6A):c.151G>T (p.Gly51Ter)	KDM6A	Pathogenic	X	44732948	44732948	G	T	criteria provided, single submitter	ClinGen:CA10605565
Duplication	NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs)	KMT2D	Pathogenic	12	49433909	49433910	C	CT	criteria provided, single submitter	ClinGen:CA10605585
single nucleotide variant	NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)	KMT2D	Pathogenic/Likely pathogenic	12	49420288	49420288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605587,UniProtKB:O14686#VAR_074253
Deletion	NM_003482.4(KMT2D):c.13324del (p.Ala4442fs)	KMT2D	Pathogenic	12	49425164	49425164	GC	G	criteria provided, single submitter	ClinGen:CA10605598
single nucleotide variant	NM_003482.4(KMT2D):c.14075+1G>A	KMT2D	Pathogenic/Likely pathogenic	12	49423183	49423183	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654764
single nucleotide variant	NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	KMT2D	Pathogenic	12	49425644	49425644	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042794
single nucleotide variant	NM_003482.4(KMT2D):c.8366+1G>A	KMT2D	Pathogenic	12	49433004	49433004	C	T	criteria provided, single submitter	ClinGen:CA16042799
single nucleotide variant	NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter)	KMT2D	Pathogenic	12	49434142	49434142	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042800
Deletion	NM_003482.4(KMT2D):c.8696del (p.Gly2899fs)	KMT2D	Pathogenic	12	49432443	49432443	GC	G	criteria provided, single submitter	ClinGen:CA16042899