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_001291415.2(KDM6A):c.2356A>G (p.Thr786Ala)	KDM6A	Likely pathogenic	X	44929100	44929100	A	G	criteria provided, single submitter	ClinGen:CA10392500
Deletion	NM_003482.4(KMT2D):c.2994del (p.Pro998_Met999insTer)	KMT2D	Pathogenic	12	49444377	49444377	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044400
single nucleotide variant	NM_003482.4(KMT2D):c.2T>C (p.Met1Thr)	KMT2D	Likely pathogenic	12	49449106	49449106	A	G	criteria provided, single submitter	ClinGen:CA16603307
single nucleotide variant	NM_003482.4(KMT2D):c.15467A>G (p.Tyr5156Cys)	KMT2D	Likely pathogenic	12	49420282	49420282	T	C	criteria provided, single submitter	ClinGen:CA16606292
single nucleotide variant	NM_003482.4(KMT2D):c.4271G>C (p.Cys1424Ser)	KMT2D	Pathogenic	12	49440539	49440539	C	G	criteria provided, single submitter	ClinGen:CA16606294
single nucleotide variant	NM_003482.4(KMT2D):c.16012T>C (p.Cys5338Arg)	KMT2D	Likely pathogenic	12	49418401	49418401	A	G	criteria provided, single submitter	ClinGen:CA16606557
single nucleotide variant	NM_003482.4(KMT2D):c.5319+1G>T	KMT2D	Pathogenic	12	49437650	49437650	C	A	criteria provided, single submitter	ClinGen:CA16606559
single nucleotide variant	NM_003482.4(KMT2D):c.16522-1G>A	KMT2D	Pathogenic	12	49415656	49415656	C	T	criteria provided, single submitter	ClinGen:CA16606629
single nucleotide variant	NM_003482.4(KMT2D):c.2317C>T (p.Gln773Ter)	KMT2D	Pathogenic	12	49445149	49445149	G	A	criteria provided, single submitter	ClinGen:CA6548289
single nucleotide variant	NM_003482.4(KMT2D):c.1259-2A>G	KMT2D	Pathogenic	12	49446209	49446209	T	C	criteria provided, single submitter	ClinGen:CA16607303