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.7066C>T (p.Gln2356Ter)	KMT2D	Pathogenic	12	49434487	49434487	G	A	criteria provided, single submitter	ClinGen:CA222105
Deletion	NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)	KMT2D	Pathogenic	12	49434958	49434958	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222100
Deletion	NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs)	KMT2D	Pathogenic	12	49436066	49436073	GGGGCTGTC	G	criteria provided, single submitter	ClinGen:CA222091
single nucleotide variant	NM_003482.4(KMT2D):c.5645-2A>G	KMT2D	Pathogenic	12	49436663	49436663	T	C	criteria provided, single submitter	ClinGen:CA222090
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
Deletion	NM_003482.4(KMT2D):c.3834_3846del (p.Ile1279fs)	KMT2D	Pathogenic	12	49443525	49443537	TGCCTCCGCTGATA	T	criteria provided, single submitter	ClinGen:CA222072
single nucleotide variant	NM_003482.4(KMT2D):c.3532C>T (p.Gln1178Ter)	KMT2D	Pathogenic	12	49443839	49443839	G	A	criteria provided, single submitter	ClinGen:CA222068
Indel	NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)	KMT2D	Pathogenic	12	49416389	49416405	TTCTCCCGCCGGTTGGC	G	criteria provided, single submitter	ClinGen:CA222046
Deletion	NM_003482.4(KMT2D):c.16109del (p.Gly5370fs)	KMT2D	Pathogenic	12	49416602	49416602	GC	G	criteria provided, single submitter	ClinGen:CA222043
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