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.12304C>T (p.Gln4102Ter)	KMT2D	Pathogenic	12	49426184	49426184	G	A	criteria provided, single submitter	ClinGen:CA384712242
single nucleotide variant	NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426220	49426220	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384712383
single nucleotide variant	NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter)	KMT2D	Likely pathogenic	12	49426688	49426688	G	A	criteria provided, single submitter	ClinGen:CA384715238
single nucleotide variant	NM_001291415.2(KDM6A):c.2988+1G>C	KDM6A	Pathogenic	X	44936072	44936072	G	C	criteria provided, single submitter	ClinGen:CA412799348
single nucleotide variant	NM_003482.4(KMT2D):c.11749C>T (p.Gln3917Ter)	KMT2D	Pathogenic	12	49426739	49426739	G	A	criteria provided, single submitter	ClinGen:CA384715865
single nucleotide variant	NM_003482.4(KMT2D):c.10356-12G>A	KMT2D	Likely pathogenic	12	49428461	49428461	C	T	criteria provided, single submitter	ClinGen:CA645372912
Duplication	NM_003482.4(KMT2D):c.1940dup (p.Pro648fs)	KMT2D	Pathogenic	12	49445525	49445526	T	TG	criteria provided, single submitter	ClinGen:CA6548387
single nucleotide variant	NM_003482.4(KMT2D):c.14843C>G (p.Ser4948Ter)	KMT2D	Pathogenic	12	49420906	49420906	G	C	criteria provided, single submitter	ClinGen:CA384691553
single nucleotide variant	NM_003482.4(KMT2D):c.11515C>T (p.Gln3839Ter)	KMT2D	Pathogenic	12	49426973	49426973	G	A	criteria provided, single submitter	ClinGen:CA384718024
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