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
single nucleotide variant	NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)	LZTR1	Likely pathogenic	22	21344753	21344753	T	C	criteria provided, single submitter	-
Deletion	NM_006767.4(LZTR1):c.320+1del	LZTR1	Pathogenic	22	21340186	21340186	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)	LZTR1	Pathogenic	22	21342384	21342384	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_006767.4(LZTR1):c.842del (p.Pro281fs)	LZTR1	Likely pathogenic	22	21345963	21345963	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	LZTR1	Pathogenic	22	21343948	21343948	C	T	criteria provided, multiple submitters, no conflicts	OMIM:600574.0010
single nucleotide variant	NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)	LZTR1	Pathogenic/Likely pathogenic	22	21343969	21343969	G	T	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_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.597G>C (p.Leu199Phe)	LZTR1	Likely pathogenic	22	21343917	21343917	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.436T>A (p.Leu146Met)	LZTR1	Likely pathogenic	22	21342334	21342334	T	A	criteria provided, single submitter	-