ヌーナン症候群

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_006767.4(LZTR1):c.150_151del (p.Val51fs)	LZTR1	Pathogenic/Likely pathogenic	22	21336810	21336811	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA513488675
Deletion	NM_006767.4(LZTR1):c.1030del (p.Ser344fs)	LZTR1	Pathogenic/Likely pathogenic	22	21346538	21346538	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799496
single nucleotide variant	NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)	RAF1	Likely pathogenic	3	12627249	12627249	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.1785+1G>A	LZTR1	Pathogenic/Likely pathogenic	22	21349017	21349017	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006767.4(LZTR1):c.436T>A (p.Leu146Met)	LZTR1	Likely pathogenic	22	21342334	21342334	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.597G>C (p.Leu199Phe)	LZTR1	Likely pathogenic	22	21343917	21343917	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002709.3(PPP1CB):c.255C>A (p.Asn85Lys)	PPP1CB	Likely pathogenic	2	29001745	29001745	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)	LZTR1	Pathogenic	22	21348001	21348001	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter)	LZTR1	Pathogenic	22	21348266	21348266	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)	RIT1	Likely pathogenic	1	155874526	155874526	C	T	criteria provided, single submitter	-