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.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.6670_6674del (p.Gly2224fs)	KMT2D	Pathogenic	12	49434879	49434883	TTCCCC	T	criteria provided, single submitter	ClinGen:CA271652
single nucleotide variant	NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)	KMT2D	Pathogenic	12	49435757	49435757	G	T	criteria provided, single submitter	ClinGen:CA271648
Deletion	NM_003482.4(KMT2D):c.6086del (p.Pro2029fs)	KMT2D	Pathogenic	12	49435895	49435895	AG	A	criteria provided, single submitter	ClinGen:CA271647
Deletion	NM_003482.4(KMT2D):c.4739del (p.Pro1580fs)	KMT2D	Pathogenic	12	49439705	49439705	TG	T	criteria provided, single submitter	ClinGen:CA271646
Deletion	NM_003482.4(KMT2D):c.4221del (p.Cys1408fs)	KMT2D	Pathogenic	12	49441763	49441763	AG	A	criteria provided, single submitter	ClinGen:CA271640
Deletion	NM_003482.4(KMT2D):c.3695del (p.Pro1232fs)	KMT2D	Pathogenic	12	49443676	49443676	CG	C	criteria provided, single submitter	ClinGen:CA271630
single nucleotide variant	NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter)	KMT2D	Pathogenic	12	49443818	49443818	G	A	criteria provided, single submitter	ClinGen:CA271628
single nucleotide variant	NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter)	KMT2D	Pathogenic	12	49444250	49444250	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271626
single nucleotide variant	NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter)	KMT2D	Pathogenic	12	49445653	49445653	C	A	criteria provided, single submitter	ClinGen:CA271618