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.977G>A (p.Gly326Glu)	NLRP3	Pathogenic	1	247587728	247587728	G	A	criteria provided, single submitter	ClinGen:CA281443
single nucleotide variant	NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)	NLRP3	Pathogenic	1	247587682	247587682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281423
single nucleotide variant	NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val)	NLRP3	Pathogenic	1	247587671	247587671	G	T	criteria provided, single submitter	ClinGen:CA281415
single nucleotide variant	NM_001243133.2(NLRP3):c.919G>C (p.Gly307Arg)	NLRP3	Likely pathogenic	1	247587670	247587670	G	C	criteria provided, single submitter	ClinGen:CA16603604
single nucleotide variant	NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro)	NLRP3	Pathogenic/Likely pathogenic	1	247587665	247587665	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281403
single nucleotide variant	NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys)	NLRP3	Pathogenic	1	247587661	247587661	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281399
single nucleotide variant	NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly)	NLRP3	Pathogenic	1	247587659	247587659	A	G	criteria provided, single submitter	ClinGen:CA281395
single nucleotide variant	NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)	NLRP3	Pathogenic	1	247587658	247587658	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116796,OMIM:606416.0008
single nucleotide variant	NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp)	NLRP3	Pathogenic/Likely pathogenic	1	247587653	247587653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281387
single nucleotide variant	NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val)	NLRP3	Likely pathogenic	1	247587541	247587541	C	G	criteria provided, single submitter	ClinGen:CA281367