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_005633.4(SOS1):c.2197A>T (p.Ile733Phe)	SOS1	Pathogenic/Likely pathogenic	2	39239460	39239460	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA297205,UniProtKB:Q07889#VAR_030440
single nucleotide variant	NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)	SOS1	Pathogenic	2	39234309	39234309	C	T	reviewed by expert panel	ClinGen:CA261734,UniProtKB:Q07889#VAR_030441
single nucleotide variant	NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	MAP2K1	Pathogenic/Likely pathogenic	15	66729163	66729163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279996
Indel	NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val)	MAP2K1	Pathogenic	15	66729175	66729176	GC	TT	criteria provided, single submitter	ClinGen:CA296125
single nucleotide variant	NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	MAP2K1	Likely pathogenic	15	66729180	66729180	T	C	reviewed by expert panel	ClinGen:CA279999
single nucleotide variant	NM_002755.4(MAP2K1):c.730T>G (p.Ser244Ala)	MAP2K1	Likely pathogenic	15	66777364	66777364	T	G	criteria provided, single submitter	ClinGen:CA296122
single nucleotide variant	NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	MAP2K1	Likely pathogenic	15	66727453	66727453	A	C	reviewed by expert panel	ClinGen:CA134595
single nucleotide variant	NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	MAP2K1	Pathogenic	15	66727483	66727483	G	A	reviewed by expert panel	ClinGen:CA180743
single nucleotide variant	NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)	PTPN11	Pathogenic/Likely pathogenic	12	112888162	112888162	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA215448
single nucleotide variant	NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	BRAF	Pathogenic	7	140453134	140453134	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA215454,UniProtKB:P15056#VAR_058629