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.1504T>A (p.Ser502Thr)	PTPN11	Pathogenic	12	112926884	112926884	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA180739,OMIM:176876.0007
single nucleotide variant	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11	Pathogenic	12	112888172	112888172	A	G	reviewed by expert panel	ClinGen:CA220146,UniProtKB:Q06124#VAR_015606,OMIM:176876.0008
single nucleotide variant	NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	PTPN11	Pathogenic	12	112915455	112915455	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA204408,UniProtKB:Q06124#VAR_015616,OMIM:176876.0012
single nucleotide variant	NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)	PTPN11	Pathogenic	12	112888211	112888211	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123041,UniProtKB:Q06124#VAR_016001,OMIM:176876.0015
single nucleotide variant	NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	PTPN11	Pathogenic	12	112888211	112888211	A	C	criteria provided, single submitter	ClinGen:CA123047,UniProtKB:Q06124#VAR_015998,OMIM:176876.0017
single nucleotide variant	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11	Pathogenic	12	112888220	112888220	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA235322,UniProtKB:Q06124#VAR_015611,OMIM:176876.0018
single nucleotide variant	NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	PTPN11	Pathogenic	12	112926248	112926248	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261534,OMIM:176876.0020
single nucleotide variant	NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	PTPN11	Pathogenic	12	112926258	112926258	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220131,OMIM:176876.0021
single nucleotide variant	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	PTPN11	Pathogenic	12	112926909	112926909	A	C	reviewed by expert panel	ClinGen:CA256758,OMIM:176876.0022
single nucleotide variant	NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	PTPN11	Pathogenic/Likely pathogenic	12	112926909	112926909	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256761,OMIM:176876.0023