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
Duplication	NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)	PCDH15	Pathogenic/Likely pathogenic	10	55663062	55663063	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5505668
Deletion	NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)	PCDH15	Likely pathogenic	10	55698607	55698607	CA	C	criteria provided, single submitter	ClinGen:CA16041363
Deletion	NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)	PCDH15	Likely pathogenic	10	55700647	55700647	AT	A	criteria provided, single submitter	ClinGen:CA16041364
Deletion	NM_001384140.1(PCDH15):c.3082del (p.His1028fs)	PCDH15	Pathogenic/Likely pathogenic	10	55719532	55719532	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041365
Deletion	NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)	PCDH15	Likely pathogenic	10	55719591	55719591	AG	A	criteria provided, single submitter	ClinGen:CA16041366
Deletion	NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)	PCDH15	Pathogenic/Likely pathogenic	10	55755452	55755452	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5505917
single nucleotide variant	NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55755492	55755492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041367
single nucleotide variant	NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55780079	55780079	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041368
Duplication	NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)	PCDH15	Likely pathogenic	10	55782690	55782691	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5506020
Duplication	NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)	PCDH15	Pathogenic/Likely pathogenic	10	55782758	55782759	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5506029