ヌーナン症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1785+1G>A	LZTR1	Pathogenic/Likely pathogenic	22	21349017	21349017	G	A	criteria provided, multiple submitters, no conflicts	-
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
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
single nucleotide variant	NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)	LZTR1	Pathogenic	22	21350360	21350360	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA410779953
Insertion	NM_006767.4(LZTR1):c.348_349insT (p.Pro117fs)	LZTR1	Likely pathogenic	22	21341820	21341821	C	CT	criteria provided, single submitter	ClinGen:CA658799493
single nucleotide variant	NM_006767.4(LZTR1):c.1149+1G>A	LZTR1	Pathogenic/Likely pathogenic	22	21346659	21346659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322328053
Deletion	NM_006767.4(LZTR1):c.1005_1012del (p.Glu336fs)	LZTR1	Pathogenic/Likely pathogenic	22	21346512	21346519	GGCTGAAGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118694
Deletion	NM_006767.4(LZTR1):c.438del (p.Lys147fs)	LZTR1	Likely pathogenic	22	21342336	21342336	TG	T	criteria provided, single submitter	ClinGen:CA658658905
single nucleotide variant	NM_006767.4(LZTR1):c.431C>A (p.Ser144Tyr)	LZTR1	Likely pathogenic	22	21342329	21342329	C	A	criteria provided, single submitter	ClinGen:CA410779734
Duplication	NM_006767.4(LZTR1):c.1317_1323dup (p.Phe442fs)	LZTR1	Likely pathogenic	22	21348004	21348005	G	GAGCCGCC	criteria provided, single submitter	ClinGen:CA645369794