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.11519dup (p.Ala3841fs)	KMT2D	Pathogenic	12	49426968	49426969	C	CA	criteria provided, single submitter	ClinGen:CA658797909
single nucleotide variant	NM_003482.4(KMT2D):c.2141C>A (p.Ser714Ter)	KMT2D	Pathogenic	12	49445325	49445325	G	T	criteria provided, single submitter	ClinGen:CA384668238
Duplication	NM_001291415.2(KDM6A):c.75_90dup (p.Ser31fs)	KDM6A	Likely pathogenic	X	44732871	44732872	T	TGGCGGCGGGAAAAGCG	criteria provided, single submitter	ClinGen:CA658799727
single nucleotide variant	NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter)	KDM6A	Pathogenic	X	44950028	44950028	C	A	criteria provided, single submitter	ClinGen:CA412808311
single nucleotide variant	NM_003482.4(KMT2D):c.16338+2T>C	KMT2D	Likely pathogenic	12	49416371	49416371	A	G	criteria provided, single submitter	ClinGen:CA384677297
Deletion	NM_003482.4(KMT2D):c.14700del (p.Leu4901fs)	KMT2D	Pathogenic	12	49421049	49421049	GA	G	criteria provided, single submitter	ClinGen:CA658797905
single nucleotide variant	NM_003482.4(KMT2D):c.11812C>T (p.Gln3938Ter)	KMT2D	Pathogenic	12	49426676	49426676	G	A	criteria provided, single submitter	ClinGen:CA384715136
Deletion	NM_003482.4(KMT2D):c.6594del (p.Tyr2199fs)	KMT2D	Pathogenic	12	49434959	49434959	AG	A	criteria provided, single submitter	ClinGen:CA645579714
single nucleotide variant	NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426745	49426745	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384715929
single nucleotide variant	NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly)	KMT2D	Likely pathogenic	12	49441762	49441762	A	C	criteria provided, single submitter	ClinGen:CA384649101