遺伝性難聴 - MGenReviews

遺伝性難聴

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_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)	NLRP3	Pathogenic/Likely pathogenic	1	247599355	247599355	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA281318
single nucleotide variant	NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala)	NLRP3	Likely pathogenic	1	247593000	247593000	G	C	criteria provided, single submitter	ClinGen:CA281314
single nucleotide variant	NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg)	NLRP3	Likely pathogenic	1	247588727	247588727	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)	NLRP3	Likely pathogenic	1	247588631	247588631	A	G	criteria provided, single submitter	ClinGen:CA280966,OMIM:606416.0003
single nucleotide variant	NM_001243133.2(NLRP3):c.1783A>G (p.Ser595Gly)	NLRP3	Likely pathogenic	1	247588534	247588534	A	G	criteria provided, single submitter	ClinGen:CA345557805
single nucleotide variant	NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys)	NLRP3	Pathogenic	1	247588460	247588460	A	G	criteria provided, single submitter	ClinGen:CA281262
single nucleotide variant	NM_001243133.2(NLRP3):c.1705G>A (p.Gly569Arg)	NLRP3	Pathogenic	1	247588456	247588456	G	A	criteria provided, single submitter	ClinGen:CA10577233,UniProtKB:Q96P20#VAR_014107
single nucleotide variant	NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys)	NLRP3	Pathogenic/Likely pathogenic	1	247588450	247588450	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281254
single nucleotide variant	NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys)	NLRP3	Likely pathogenic	1	247588324	247588324	G	A	criteria provided, single submitter	ClinGen:CA281234
single nucleotide variant	NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys)	NLRP3	Pathogenic	1	247588319	247588319	T	G	criteria provided, single submitter	ClinGen:CA281225