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_022124.6(CDH23):c.7921G>C (p.Asp2641His)	CDH23	Likely pathogenic	10	73565611	73565611	G	C	criteria provided, single submitter	ClinGen:CA261803
single nucleotide variant	NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter)	CDH23	Pathogenic	10	73569635	73569635	C	A	criteria provided, single submitter	ClinGen:CA261805
Deletion	NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)	CDH23	Pathogenic	10	73572640	73572643	CCAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261807
single nucleotide variant	NM_001256317.3(TMPRSS3):c.1025G>A (p.Gly342Glu)	TMPRSS3	Likely pathogenic	21	43800249	43800249	C	T	criteria provided, single submitter	ClinGen:CA261808
single nucleotide variant	NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	TMPRSS3	Pathogenic/Likely pathogenic	21	43795896	43795896	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261810,UniProtKB:P57727#VAR_013496
single nucleotide variant	NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	TMPRSS3	Pathogenic/Likely pathogenic	21	43808545	43808545	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261815
single nucleotide variant	NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His)	TMPRSS3	Likely pathogenic	21	43803277	43803277	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261818
single nucleotide variant	NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)	TMPRSS3	Pathogenic/Likely pathogenic	21	43802210	43802210	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261820
Deletion	NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)	PCDH15	Pathogenic/Likely pathogenic	10	56424007	56424007	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261842,OMIM:605514.0008
single nucleotide variant	NM_001384140.1(PCDH15):c.1998-2A>G	PCDH15	Pathogenic/Likely pathogenic	10	55839186	55839186	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261843