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_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)	CDH23	Likely pathogenic	10	73553289	73553289	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253328,OMIM:605516.0006
single nucleotide variant	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	SLC26A4	Likely pathogenic	7	107329499	107329499	T	C	reviewed by expert panel	ClinGen:CA253316,UniProtKB:O43511#VAR_021656,OMIM:605646.0031
Deletion	NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del)	WFS1	Likely pathogenic	4	6302902	6302910	CCACCGAGGT	C	criteria provided, single submitter	OMIM:606201.0008
single nucleotide variant	NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)	NLRP3	Likely pathogenic	1	247588631	247588631	A	G	criteria provided, single submitter	ClinGen:CA280966,OMIM:606416.0003
single nucleotide variant	NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)	SLC17A8	Likely pathogenic	12	100790151	100790151	C	T	criteria provided, single submitter	ClinGen:CA252550,UniProtKB:Q8NDX2#VAR_054130,OMIM:607557.0001
Deletion	NM_182548.4(LHFPL5):c.649+1del	LHFPL5	Likely pathogenic	6	35782559	35782559	CG	C	criteria provided, single submitter	OMIM:609427.0003
single nucleotide variant	NM_001038603.3(MARVELD2):c.1183-1G>A	MARVELD2	Likely pathogenic	5	68728353	68728353	G	A	criteria provided, single submitter	OMIM:610572.0001