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.15143G>A (p.Arg5048His)	KMT2D	Pathogenic/Likely pathogenic	12	49420606	49420606	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603305,UniProtKB:O14686#VAR_074251
single nucleotide variant	NM_003482.4(KMT2D):c.13999+1G>A	KMT2D	Pathogenic	12	49424062	49424062	C	T	criteria provided, single submitter	ClinGen:CA10603307
Duplication	NM_003482.4(KMT2D):c.8650dup (p.Val2884fs)	KMT2D	Pathogenic	12	49432488	49432489	A	AC	criteria provided, single submitter	ClinGen:CA10603309
single nucleotide variant	NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter)	KMT2D	Pathogenic	12	49436599	49436599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603310
single nucleotide variant	NM_003482.4(KMT2D):c.4693+1G>T	KMT2D	Pathogenic	12	49439847	49439847	C	A	criteria provided, single submitter	ClinGen:CA10603312
Duplication	NM_001291415.2(KDM6A):c.2306dup (p.Ser770fs)	KDM6A	Pathogenic	X	44929049	44929050	G	GA	criteria provided, single submitter	ClinGen:CA10603484
Duplication	NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs)	KDM6A	Pathogenic	X	44936066	44936067	A	AT	criteria provided, single submitter	ClinGen:CA10603729
single nucleotide variant	NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter)	KMT2D	Pathogenic	12	49426775	49426775	G	A	criteria provided, single submitter	ClinGen:CA10603992
Deletion	NM_003482.4(KMT2D):c.1966del (p.Leu656fs)	KMT2D	Pathogenic	12	49445500	49445500	AG	A	criteria provided, single submitter	ClinGen:CA10604033
Deletion	NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs)	KMT2D	Pathogenic	12	49432097	49432098	CCA	C	criteria provided, single submitter	ClinGen:CA10605294