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_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)	PTPN11	Pathogenic	12	112926851	112926851	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261543
single nucleotide variant	NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	PTPN11	Pathogenic/Likely pathogenic	12	112926852	112926852	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261546
single nucleotide variant	NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	PTPN11	Pathogenic/Likely pathogenic	12	112926852	112926852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273407
single nucleotide variant	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	PTPN11	Pathogenic	12	112926872	112926872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273451
single nucleotide variant	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	PTPN11	Pathogenic	12	112926873	112926873	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273434
single nucleotide variant	NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	PTPN11	Pathogenic	12	112926882	112926882	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261549
single nucleotide variant	NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)	PTPN11	Pathogenic	12	112926884	112926884	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273454
single nucleotide variant	NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	PTPN11	Pathogenic	12	112926885	112926885	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261552
single nucleotide variant	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	PTPN11	Pathogenic	12	112926887	112926887	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273459
single nucleotide variant	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	PTPN11	Pathogenic	12	112926887	112926887	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220137