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.11944C>T (p.Arg3982Ter)	KMT2D	Pathogenic	12	49426544	49426544	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384713842
Duplication	NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs)	KMT2D	Pathogenic	12	49426930	49426931	A	ACCAGCCTGTGT	criteria provided, single submitter	ClinGen:CA658797908
single nucleotide variant	NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)	KMT2D	Pathogenic	12	49435258	49435258	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384751452,OMIM:602113.0005
Deletion	NM_003482.4(KMT2D):c.4941del (p.Asp1648fs)	KMT2D	Pathogenic	12	49438549	49438549	CG	C	criteria provided, single submitter	ClinGen:CA658797901
single nucleotide variant	NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter)	KMT2D	Pathogenic	12	49440141	49440141	G	T	criteria provided, single submitter	ClinGen:CA236614816
single nucleotide variant	NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr)	KMT2D	Likely pathogenic	12	49440530	49440530	C	T	criteria provided, single submitter	ClinGen:CA384647468
single nucleotide variant	NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter)	KMT2D	Likely pathogenic	12	49448789	49448789	C	A	criteria provided, single submitter	ClinGen:CA384690933
single nucleotide variant	NM_001291415.2(KDM6A):c.1015C>T (p.Gln339Ter)	KDM6A	Pathogenic	X	44918532	44918532	C	T	criteria provided, single submitter	ClinGen:CA412782016
Deletion	NM_001291415.2(KDM6A):c.2231_2232del (p.Gln744fs)	KDM6A	Pathogenic	X	44928975	44928976	CAG	C	criteria provided, single submitter	ClinGen:CA658799729
single nucleotide variant	NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)	KMT2D	Pathogenic	12	49424405	49424405	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384701705