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
Deletion	NM_003482.4(KMT2D):c.13884del (p.Thr4629fs)	KMT2D	Pathogenic	12	49424178	49424178	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590099
single nucleotide variant	NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter)	KMT2D	Pathogenic	12	49426718	49426718	G	A	criteria provided, single submitter	ClinGen:CA10602722
Deletion	NM_003482.4(KMT2D):c.16469_16472del (p.Lys5490fs)	KMT2D	Pathogenic	12	49415875	49415878	CTCTT	C	criteria provided, single submitter	ClinGen:CA10603161
Deletion	NM_003482.4(KMT2D):c.5139del (p.Pro1714fs)	KMT2D	Pathogenic	12	49438032	49438032	GC	G	criteria provided, single submitter	ClinGen:CA10603163
Indel	NM_003482.4(KMT2D):c.15708_15717delinsTA (p.Gly5237fs)	KMT2D	Pathogenic	12	49420032	49420041	CGGCCGCCCG	TA	criteria provided, single submitter	ClinGen:CA10603199
Deletion	NM_003482.4(KMT2D):c.9367del (p.Glu3123fs)	KMT2D	Pathogenic	12	49431772	49431772	TC	T	criteria provided, single submitter	ClinGen:CA10603268
Deletion	NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer)	KMT2D	Pathogenic/Likely pathogenic	12	49446166	49446166	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603270
single nucleotide variant	NM_003482.4(KMT2D):c.401-3A>G	KMT2D	Pathogenic	12	49448202	49448202	T	C	criteria provided, single submitter	ClinGen:CA10603275
single nucleotide variant	NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	KMT2D	Pathogenic	12	49415846	49415846	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603301
single nucleotide variant	NM_003482.4(KMT2D):c.16184G>A (p.Trp5395Ter)	KMT2D	Pathogenic	12	49416527	49416527	C	T	criteria provided, single submitter	ClinGen:CA10603303