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.4214A>G (p.His1405Arg)	KMT2D	Likely pathogenic	12	49441770	49441770	T	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.8214del (p.Phe2739fs)	KMT2D	Pathogenic	12	49433233	49433233	AG	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.12878_12893del (p.Pro4293fs)	KMT2D	Pathogenic	12	49425595	49425610	TGTAGATAAGGCTCCTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter)	KMT2D	Pathogenic	12	49421661	49421661	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.4262G>A (p.Gly1421Asp)	KMT2D	Likely pathogenic	12	49440548	49440548	C	T	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.1769dup (p.Met590fs)	KMT2D	Likely pathogenic	12	49445696	49445697	C	CA	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer)	KMT2D	Pathogenic	12	49446999	49446999	TC	T	criteria provided, single submitter	-
Duplication	NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs)	KDM6A	Likely pathogenic	X	44966717	44966718	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)	KMT2D	Pathogenic	12	49418395	49418395	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.12778C>T (p.Gln4260Ter)	KMT2D	Pathogenic	12	49425710	49425710	G	A	criteria provided, single submitter	-