遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.563T>C (p.Ile188Thr)	SLC26A4	Pathogenic/Likely pathogenic	7	107314756	107314756	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000441.2(SLC26A4):c.919-19_932del	SLC26A4	Likely pathogenic	7	107323879	107323911	AACATCTTTTGTTTTATTTCAGACGATAATTGCT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	SLC26A4	Pathogenic/Likely pathogenic	7	107334921	107334921	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1707+2T>C	SLC26A4	Likely pathogenic	7	107340622	107340622	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)	SLC26A4	Pathogenic	7	107350527	107350527	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.2235+2T>C	SLC26A4	Likely pathogenic	7	107350646	107350646	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)	PCDH15	Likely pathogenic	10	55587285	55587286	G	GTCTT	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.4211+1G>A	PCDH15	Likely pathogenic	10	55588324	55588324	C	T	criteria provided, single submitter	-
Duplication	NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)	PCDH15	Likely pathogenic	10	55616942	55616943	G	GATCTTCT	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3502-2A>G	PCDH15	Likely pathogenic	10	55626619	55626619	T	C	criteria provided, single submitter	-