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_006912.6(RIT1):c.245T>G (p.Phe82Cys)	RIT1	Pathogenic	1	155874286	155874286	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042308
single nucleotide variant	NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)	SOS1	Likely pathogenic	2	39249915	39249915	T	A	reviewed by expert panel	ClinGen:CA16042455
single nucleotide variant	NM_002880.4(RAF1):c.433A>C (p.Thr145Pro)	RAF1	Likely pathogenic	3	12650413	12650413	T	G	criteria provided, single submitter	ClinGen:CA16042457
single nucleotide variant	NM_005633.4(SOS1):c.1316A>C (p.Gln439Pro)	SOS1	Likely pathogenic	2	39250253	39250253	T	G	criteria provided, single submitter	ClinGen:CA16042458
single nucleotide variant	NM_005633.4(SOS1):c.1859A>G (p.Asp620Gly)	SOS1	Likely pathogenic	2	39241987	39241987	T	C	criteria provided, single submitter	ClinGen:CA16042483
single nucleotide variant	NM_004333.6(BRAF):c.1765A>C (p.Thr589Pro)	BRAF	Likely pathogenic	7	140453170	140453170	T	G	criteria provided, single submitter	ClinGen:CA16042558
single nucleotide variant	NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg)	BRAF	Likely pathogenic	7	140476832	140476832	A	C	criteria provided, single submitter	ClinGen:CA16042565
single nucleotide variant	NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)	BRAF	Pathogenic	7	140481418	140481418	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042578
Indel	NM_002834.5(PTPN11):c.180_181delinsAA (p.Asp61Asn)	PTPN11	Pathogenic	12	112888164	112888165	TG	AA	criteria provided, single submitter	ClinGen:CA16042833
Indel	NM_002834.5(PTPN11):c.188_189delinsGC (p.Tyr63Cys)	PTPN11	Pathogenic	12	112888172	112888173	AT	GC	criteria provided, single submitter	ClinGen:CA16042834