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
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
Duplication	NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)	RRAS2	Pathogenic	11	14380343	14380344	A	ACGCCGCCCC	criteria provided, single submitter	-
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	-
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.320+1del	LZTR1	Pathogenic	22	21340186	21340186	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)	MRAS	Pathogenic	3	138091793	138091793	G	T	criteria provided, multiple submitters, no conflicts	OMIM:608435.0001
single nucleotide variant	NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)	MRAS	Pathogenic	3	138116175	138116175	C	T	criteria provided, single submitter	OMIM:608435.0002
single nucleotide variant	NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)	MRAS	Pathogenic	3	138116184	138116184	A	G	criteria provided, single submitter	OMIM:608435.0003
single nucleotide variant	NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn)	MAP2K1	Pathogenic	15	66729180	66729180	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	SOS1	Likely pathogenic	2	39241979	39241979	A	T	reviewed by expert panel	-