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.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.15104G>C (p.Cys5035Ser)	KMT2D	Likely pathogenic	12	49420645	49420645	C	G	criteria provided, single submitter	ClinGen:CA222025
Deletion	NM_003482.4(KMT2D):c.5166del (p.Ser1722fs)	KMT2D	Likely pathogenic	12	49438005	49438005	CA	C	criteria provided, single submitter	ClinGen:CA232415
single nucleotide variant	NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)	KMT2D	Likely pathogenic	12	49415934	49415934	C	A	criteria provided, single submitter	ClinGen:CA271613
single nucleotide variant	NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)	KMT2D	Likely pathogenic	12	49416064	49416064	T	A	criteria provided, single submitter	ClinGen:CA271610
Duplication	NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs)	KMT2D	Likely pathogenic	12	49434071	49434072	G	GA	criteria provided, single submitter	ClinGen:CA274867
Duplication	NM_001291415.2(KDM6A):c.2988+2dup	KDM6A	Likely pathogenic	X	44936072	44936073	G	GT	criteria provided, single submitter	ClinGen:CA209510
single nucleotide variant	NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)	KDM6A	Likely pathogenic	X	44949074	44949074	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA206562
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
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