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.509G>A (p.Arg170Gln)	LZTR1	Pathogenic/Likely pathogenic	22	21342407	21342407	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118451
single nucleotide variant	NM_006767.4(LZTR1):c.1250A>C (p.Tyr417Ser)	LZTR1	Likely pathogenic	22	21347183	21347183	A	C	criteria provided, single submitter	ClinGen:CA16608588
Deletion	NM_006767.4(LZTR1):c.774del (p.Phe258fs)	LZTR1	Pathogenic/Likely pathogenic	22	21344795	21344795	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118607
single nucleotide variant	NM_006767.4(LZTR1):c.737A>C (p.Gln246Pro)	LZTR1	Likely pathogenic	22	21344760	21344760	A	C	criteria provided, single submitter	ClinGen:CA16043174
Duplication	NM_006767.4(LZTR1):c.27dup (p.Gln10fs)	LZTR1	Pathogenic/Likely pathogenic	22	21336680	21336681	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118264
single nucleotide variant	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1	Pathogenic/Likely pathogenic	22	21346593	21346593	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118715
single nucleotide variant	NM_006767.4(LZTR1):c.509+1G>T	LZTR1	Likely pathogenic	22	21342408	21342408	G	T	criteria provided, single submitter	ClinGen:CA10603692
single nucleotide variant	NM_006767.4(LZTR1):c.685T>G (p.Cys229Gly)	LZTR1	Likely pathogenic	22	21344708	21344708	T	G	criteria provided, single submitter	ClinGen:CA10603560
single nucleotide variant	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	LZTR1	Pathogenic	22	21345975	21345975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204980,UniProtKB:Q8N653#VAR_075660,OMIM:600574.0007
single nucleotide variant	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1	Pathogenic/Likely pathogenic	22	21344765	21344765	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358852,UniProtKB:Q8N653#VAR_075659,OMIM:600574.0008