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
Indel	NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)	KMT2D	Pathogenic	12	49416389	49416405	TTCTCCCGCCGGTTGGC	G	criteria provided, single submitter	ClinGen:CA222046
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
Deletion	NM_003482.4(KMT2D):c.3834_3846del (p.Ile1279fs)	KMT2D	Pathogenic	12	49443525	49443537	TGCCTCCGCTGATA	T	criteria provided, single submitter	ClinGen:CA222072
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.5645-2A>G	KMT2D	Pathogenic	12	49436663	49436663	T	C	criteria provided, single submitter	ClinGen:CA222090
Deletion	NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs)	KMT2D	Pathogenic	12	49436066	49436073	GGGGCTGTC	G	criteria provided, single submitter	ClinGen:CA222091
Deletion	NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)	KMT2D	Pathogenic	12	49434958	49434958	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222100
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.7140del (p.Gln2380fs)	KMT2D	Pathogenic	12	49434413	49434413	GC	G	criteria provided, single submitter	ClinGen:CA222107
Deletion	NM_003482.4(KMT2D):c.5166del (p.Ser1722fs)	KMT2D	Likely pathogenic	12	49438005	49438005	CA	C	criteria provided, single submitter	ClinGen:CA232415