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.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.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.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.977G>A (p.Gly326Glu)	NLRP3	Pathogenic	1	247587728	247587728	G	A	criteria provided, single submitter	ClinGen:CA281443
single nucleotide variant	NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile)	ACTG1	Likely pathogenic	17	79478418	79478418	A	T	criteria provided, single submitter	ClinGen:CA213201
single nucleotide variant	NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)	TBC1D24	Pathogenic	16	2546682	2546682	C	T	criteria provided, single submitter	ClinGen:CA156356,UniProtKB:Q9ULP9#VAR_072107,OMIM:613577.0014
single nucleotide variant	NM_000441.2(SLC26A4):c.765+3A>C	SLC26A4	Likely pathogenic	7	107315557	107315557	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269902
Deletion	NM_194248.3(OTOF):c.1172del (p.Lys391fs)	OTOF	Likely pathogenic	2	26707375	26707375	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269913
single nucleotide variant	NM_194248.3(OTOF):c.897+1G>T	OTOF	Likely pathogenic	2	26717809	26717809	C	A	criteria provided, single submitter	ClinGen:CA269914
Deletion	NM_004817.4(TJP2):c.766_769del (p.Ala256fs)	TJP2	Pathogenic	9	71836226	71836229	GGCCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251339,OMIM:607709.0002