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
Duplication	NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs)	KMT2D	Likely pathogenic	12	49434071	49434072	G	GA	criteria provided, single submitter	ClinGen:CA274867
Deletion	NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs)	KDM6A	Pathogenic	X	44929412	44929415	CACAA	C	criteria provided, single submitter	ClinGen:CA199644,OMIM:300128.0006
Indel	NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs)	KMT2D	Pathogenic	12	49444718	49444719	CG	GGATGGCTCAGCT	criteria provided, single submitter	ClinGen:CA274934
Duplication	NM_003482.4(KMT2D):c.3582dup (p.Thr1195fs)	KMT2D	Pathogenic	12	49443788	49443789	T	TG	criteria provided, single submitter	ClinGen:CA274956
Duplication	NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs)	KMT2D	Pathogenic	12	49441815	49441816	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA275008
single nucleotide variant	NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter)	KMT2D	Pathogenic	12	49440545	49440545	C	T	criteria provided, single submitter	ClinGen:CA275024
single nucleotide variant	NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter)	KMT2D	Pathogenic	12	49440141	49440141	G	C	criteria provided, single submitter	ClinGen:CA275033
single nucleotide variant	NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter)	KMT2D	Pathogenic	12	49438040	49438040	T	A	criteria provided, single submitter	ClinGen:CA275102
Deletion	NM_003482.4(KMT2D):c.5423del (p.Gly1808fs)	KMT2D	Pathogenic	12	49437462	49437462	TC	T	criteria provided, single submitter	ClinGen:CA275116
single nucleotide variant	NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter)	KMT2D	Pathogenic	12	49436629	49436629	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275138