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
Deletion	NM_153700.2(STRC):c.2171_2174del (p.Val724fs)	STRC	Pathogenic	15	43906634	43906637	CCAAA	C	criteria provided, single submitter	ClinGen:CA253126,OMIM:606440.0002
single nucleotide variant	NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)	NLRP3	Pathogenic	1	247588067	247588067	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280958,OMIM:606416.0001
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.1055C>T (p.Ala352Val)	NLRP3	Pathogenic/Likely pathogenic	1	247587806	247587806	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116780,OMIM:606416.0004
single nucleotide variant	NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)	NLRP3	Pathogenic	1	247587529	247587529	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116784,OMIM:606416.0005
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.1058T>C (p.Leu353Pro)	NLRP3	Pathogenic	1	247587809	247587809	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280970,OMIM:606416.0010
single nucleotide variant	NM_057176.3(BSND):c.1A>T (p.Met1Leu)	BSND	Pathogenic	1	55464860	55464860	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116804,OMIM:606412.0001
single nucleotide variant	NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	BSND	Pathogenic/Likely pathogenic	1	55464881	55464881	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116806,UniProtKB:Q8WZ55#VAR_019784,OMIM:606412.0002
single nucleotide variant	NM_057176.3(BSND):c.3G>A (p.Met1Ile)	BSND	Pathogenic/Likely pathogenic	1	55464862	55464862	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116807,OMIM:606412.0005