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.15061C>T (p.Arg5021Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49420688	49420688	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234164
Deletion	NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)	KMT2D	Pathogenic/Likely pathogenic	12	49441848	49441849	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA222075
single nucleotide variant	NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)	KMT2D	Pathogenic/Likely pathogenic	12	49420108	49420108	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222037,UniProtKB:O14686#VAR_063832
Deletion	NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)	KMT2D	Pathogenic/Likely pathogenic	12	49425456	49425456	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222012
single nucleotide variant	NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426796	49426796	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221995
single nucleotide variant	NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	KMT2D	Pathogenic/Likely pathogenic	12	49420213	49420213	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254197,UniProtKB:O14686#VAR_063831,OMIM:602113.0001
single nucleotide variant	NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	KDM6A	Pathogenic	X	44969369	44969369	C	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.713del (p.Leu238fs)	KMT2D	Pathogenic	12	49447385	49447385	CA	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs)	KMT2D	Pathogenic	12	49445995	49445998	TCCTC	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)	KMT2D	Pathogenic	12	49445937	49445937	G	C	criteria provided, single submitter	-