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_000441.2(SLC26A4):c.2319+1G>A	SLC26A4	Pathogenic/Likely pathogenic	7	107353068	107353068	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4433116
single nucleotide variant	NM_033056.4(PCDH15):c.4368-2A>T	PCDH15	Likely pathogenic	10	55583120	55583120	T	A	criteria provided, single submitter	ClinGen:CA16041354
Deletion	NM_033056.4(PCDH15):c.4368-15_4368-2del	PCDH15	Likely pathogenic	10	55583120	55583133	CTTGAAAGAAAAGAA	C	criteria provided, single submitter	ClinGen:CA16041355
single nucleotide variant	NM_001384140.1(PCDH15):c.4367+1G>A	PCDH15	Likely pathogenic	10	55587152	55587152	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041356
Deletion	NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)	PCDH15	Likely pathogenic	10	55587207	55587207	CG	C	criteria provided, single submitter	ClinGen:CA16041357
single nucleotide variant	NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55587293	55587293	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041358
Insertion	NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)	PCDH15	Likely pathogenic	10	55591079	55591080	T	TCTAC	criteria provided, single submitter	ClinGen:CA16041360
single nucleotide variant	NM_001384140.1(PCDH15):c.3983+1G>T	PCDH15	Pathogenic/Likely pathogenic	10	55600079	55600079	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5505501
Duplication	NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)	PCDH15	Likely pathogenic	10	55600173	55600174	G	GCATCT	criteria provided, single submitter	ClinGen:CA16041361
Deletion	NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)	PCDH15	Likely pathogenic	10	55626466	55626466	GA	G	criteria provided, single submitter	ClinGen:CA16041362