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.436T>A (p.Leu146Met)	LZTR1	Likely pathogenic	22	21342334	21342334	T	A	criteria provided, single submitter	-
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
Insertion	NM_006767.4(LZTR1):c.348_349insT (p.Pro117fs)	LZTR1	Likely pathogenic	22	21341820	21341821	C	CT	criteria provided, single submitter	ClinGen:CA658799493
Deletion	NM_006767.4(LZTR1):c.320+1del	LZTR1	Pathogenic	22	21340186	21340186	AG	A	criteria provided, single submitter	-
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.27del (p.Gln10fs)	LZTR1	Pathogenic	22	21336681	21336681	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170538,OMIM:600574.0004
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_012250.6(RRAS2):c.68G>T (p.Gly23Val)	RRAS2	Pathogenic	11	14380349	14380349	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)	RRAS2	Pathogenic	11	14380343	14380344	A	ACGCCGCCCC	criteria provided, single submitter	-
Duplication	NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	RRAS2	Pathogenic	11	14380338	14380339	T	TGCCCACGCC	criteria provided, multiple submitters, no conflicts	OMIM:600098.0003