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_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	STRC	Pathogenic/Likely pathogenic	15	43896948	43896948	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7528170
single nucleotide variant	NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter)	LOXHD1	Pathogenic	18	44190752	44190752	C	T	criteria provided, single submitter	ClinGen:CA402386738
single nucleotide variant	NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp)	COL11A1	Likely pathogenic	1	103354295	103354295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341212411
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_031475.3(ESPN):c.292C>T (p.Gln98Ter)	ESPN	Likely pathogenic	1	6485307	6485307	C	T	criteria provided, single submitter	ClinGen:CA338084433
single nucleotide variant	NM_031475.3(ESPN):c.1464+1G>A	ESPN	Likely pathogenic	1	6505996	6505996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA560228
single nucleotide variant	NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)	WFS1	Likely pathogenic	4	6303671	6303671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839622
single nucleotide variant	NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter)	WFS1	Pathogenic/Likely pathogenic	4	6304122	6304122	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356179417
Deletion	NM_001038603.3(MARVELD2):c.595del (p.Val199fs)	MARVELD2	Likely pathogenic	5	68715806	68715806	TG	T	criteria provided, single submitter	ClinGen:CA658657448
Deletion	NM_022124.6(CDH23):c.6682del (p.Glu2228fs)	CDH23	Pathogenic	10	73553366	73553366	AG	A	criteria provided, single submitter	ClinGen:CA658656076