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.3501+1G>T	PCDH15	Likely pathogenic	10	55663002	55663002	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3122+2T>A	PCDH15	Likely pathogenic	10	55719490	55719490	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)	PCDH15	Likely pathogenic	10	55839130	55839130	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.1917+2T>C	PCDH15	Likely pathogenic	10	55892633	55892633	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.705+1G>A	PCDH15	Likely pathogenic	10	56089355	56089355	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)	PCDH15	Likely pathogenic	10	56287584	56287584	C	A	criteria provided, single submitter	-
Deletion	NM_001384140.1(PCDH15):c.139del (p.Asp47fs)	PCDH15	Pathogenic/Likely pathogenic	10	56287590	56287590	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)	PCDH15	Likely pathogenic	10	56423939	56423939	A	T	criteria provided, single submitter	-
Deletion	NM_001384140.1(PCDH15):c.323del (p.Pro108fs)	PCDH15	Likely pathogenic	10	56129031	56129031	CG	C	criteria provided, single submitter	-
Deletion	NM_001384140.1(PCDH15):c.299del (p.Gly100fs)	PCDH15	Likely pathogenic	10	56138561	56138561	TC	T	criteria provided, single submitter	-