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_002880.4(RAF1):c.1457A>G (p.Asp486Gly)	RAF1	Pathogenic/Likely pathogenic	3	12627259	12627259	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261610,UniProtKB:P04049#VAR_037816
single nucleotide variant	NM_005633.4(SOS1):c.253T>A (p.Trp85Arg)	SOS1	Pathogenic	2	39285906	39285906	A	T	criteria provided, single submitter	ClinGen:CA297298
single nucleotide variant	NM_005633.4(SOS1):c.253T>C (p.Trp85Arg)	SOS1	Pathogenic	2	39285906	39285906	A	G	criteria provided, single submitter	ClinGen:CA346373979
single nucleotide variant	NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)	SOS1	Pathogenic	2	39285837	39285837	C	T	reviewed by expert panel	ClinGen:CA261739,UniProtKB:Q07889#VAR_030423
single nucleotide variant	NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	SOS1	Pathogenic	2	39283845	39283845	T	C	reviewed by expert panel	ClinGen:CA235342,UniProtKB:Q07889#VAR_066034
single nucleotide variant	NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	SOS1	Pathogenic	2	39278343	39278343	A	G	reviewed by expert panel	ClinGen:CA235344,UniProtKB:Q07889#VAR_064504
single nucleotide variant	NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)	SOS1	Pathogenic	2	39250272	39250272	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA235348,UniProtKB:Q07889#VAR_030429
single nucleotide variant	NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)	SOS1	Pathogenic	2	39250269	39250269	C	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_005633.4(SOS1):c.1300_1301delinsAA (p.Gly434Lys)	SOS1	Pathogenic	2	39250268	39250269	CC	TT	criteria provided, single submitter	ClinGen:CA297278
single nucleotide variant	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1	Pathogenic/Likely pathogenic	2	39250269	39250269	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261717,UniProtKB:Q07889#VAR_030430