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
Deletion	NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)	PCDH15	Likely pathogenic	10	55616947	55616950	TTCTA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3374-1G>T	PCDH15	Likely pathogenic	10	55663131	55663131	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3123-1G>A	PCDH15	Likely pathogenic	10	55700736	55700736	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.2869-1G>T	PCDH15	Likely pathogenic	10	55721653	55721653	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.2091+2T>C	PCDH15	Likely pathogenic	10	55839089	55839089	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.1997+1G>T	PCDH15	Likely pathogenic	10	55849743	55849743	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.1305+1G>C	PCDH15	Likely pathogenic	10	55955442	55955442	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)	PCDH15	Likely pathogenic	10	56089414	56089414	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)	PCDH15	Pathogenic/Likely pathogenic	10	56138586	56138586	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384140.1(PCDH15):c.158-2A>T	PCDH15	Likely pathogenic	10	56138704	56138704	T	A	criteria provided, multiple submitters, no conflicts	-