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.9595del (p.Ser3199fs)	KMT2D	Likely pathogenic	12	49431544	49431544	CT	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.9417del (p.Lys3140fs)	KMT2D	Likely pathogenic	12	49431722	49431722	TG	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.8952del (p.Lys2985fs)	KMT2D	Likely pathogenic	12	49432187	49432187	TC	T	criteria provided, single submitter	-
Indel	NM_003482.4(KMT2D):c.8859_8861delinsCA (p.Lys2953fs)	KMT2D	Likely pathogenic	12	49432278	49432280	CCC	TG	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter)	KMT2D	Likely pathogenic	12	49432623	49432623	G	C	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.8474_8477dup (p.Thr2827fs)	KMT2D	Likely pathogenic	12	49432661	49432662	T	TGCTG	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49432738	49432738	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.8350_8351del (p.Met2784fs)	KMT2D	Likely pathogenic	12	49433020	49433021	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter)	KMT2D	Pathogenic	12	49433620	49433620	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003482.4(KMT2D):c.7479dup (p.Phe2494fs)	KMT2D	Likely pathogenic	12	49434073	49434074	A	AC	criteria provided, single submitter	-