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_004086.3(COCH):c.292C>T (p.Arg98Ter)	COCH	Likely pathogenic	14	31348069	31348069	C	T	criteria provided, single submitter	ClinGen:CA7142993,OMIM:603196.0010
single nucleotide variant	NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)	WFS1	Pathogenic/Likely pathogenic	4	6303711	6303711	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839638
Indel	NM_080680.3(COL11A2):c.339_340delinsG (p.Leu114fs)	COL11A2	Pathogenic	6	33156858	33156859	GG	C	criteria provided, single submitter	ClinGen:CA645372818
single nucleotide variant	NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter)	COL11A2	Pathogenic	6	33157139	33157139	G	A	criteria provided, single submitter	ClinGen:CA363613163
single nucleotide variant	NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter)	TJP2	Likely pathogenic	9	71861671	71861671	C	T	criteria provided, single submitter	ClinGen:CA373536508
Duplication	NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)	PCDH15	Pathogenic/Likely pathogenic	10	55583016	55583017	A	AATAGTATT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5505273
single nucleotide variant	NM_001378609.3(OTOGL):c.1890-1G>T	OTOGL	Likely pathogenic	12	80655748	80655748	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6700612
Duplication	NM_001378609.3(OTOGL):c.3760dup (p.Tyr1254fs)	OTOGL	Likely pathogenic	12	80712444	80712445	A	AT	criteria provided, single submitter	ClinGen:CA606197365
single nucleotide variant	NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)	OTOGL	Pathogenic/Likely pathogenic	12	80747146	80747146	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6701718
single nucleotide variant	NM_001145026.2(PTPRQ):c.163+5G>A	PTPRQ	Likely pathogenic	12	80838634	80838634	G	A	criteria provided, single submitter	ClinGen:CA606204256