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_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55892637	55892637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041369
Deletion	NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)	PCDH15	Pathogenic/Likely pathogenic	10	55892719	55892722	TTTGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041370
single nucleotide variant	NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)	PCDH15	Likely pathogenic	10	55892746	55892746	A	C	criteria provided, single submitter	ClinGen:CA16041371
single nucleotide variant	NM_001384140.1(PCDH15):c.1785-2A>C	PCDH15	Likely pathogenic	10	55892769	55892769	T	G	criteria provided, single submitter	ClinGen:CA16041372
Deletion	NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)	PCDH15	Likely pathogenic	10	55912873	55912874	GGA	G	criteria provided, single submitter	ClinGen:CA16041373
single nucleotide variant	NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55912907	55912907	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5506283
Deletion	NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)	PCDH15	Pathogenic/Likely pathogenic	10	55913017	55913017	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041374
single nucleotide variant	NM_001384140.1(PCDH15):c.1305+1G>A	PCDH15	Likely pathogenic	10	55955442	55955442	C	T	criteria provided, single submitter	ClinGen:CA16041375
single nucleotide variant	NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55973788	55973788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5506515
Duplication	NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)	PCDH15	Likely pathogenic	10	55996666	55996667	G	GT	criteria provided, single submitter	ClinGen:CA16041376