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.15536G>A (p.Arg5179His)	KMT2D	Pathogenic/Likely pathogenic	12	49420213	49420213	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254197,UniProtKB:O14686#VAR_063831,OMIM:602113.0001
single nucleotide variant	NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)	KMT2D	Pathogenic	12	49416115	49416115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254200,OMIM:602113.0003
single nucleotide variant	NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)	KDM6A	Pathogenic	X	44922694	44922694	C	T	criteria provided, single submitter	ClinGen:CA130685,OMIM:300128.0003
Indel	NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs)	KMT2D	Pathogenic	12	49427961	49427967	ACACAGA	CGTGACTTGCG	criteria provided, single submitter	ClinGen:CA221980
single nucleotide variant	NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=)	KMT2D	Likely pathogenic	12	49427850	49427850	C	T	criteria provided, single submitter	ClinGen:CA221981
single nucleotide variant	NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter)	KMT2D	Pathogenic	12	49427669	49427669	G	A	criteria provided, single submitter	ClinGen:CA221983
single nucleotide variant	NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter)	KMT2D	Pathogenic	12	49427654	49427654	G	A	criteria provided, single submitter	ClinGen:CA221985
single nucleotide variant	NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter)	KMT2D	Pathogenic	12	49427339	49427339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221990
Deletion	NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs)	KMT2D	Pathogenic	12	49427286	49427287	GCA	G	criteria provided, single submitter	ClinGen:CA221994
single nucleotide variant	NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426796	49426796	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221995