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.7C>T (p.Arg3Ter)	PCDH15	Pathogenic/Likely pathogenic	10	56424016	56424016	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253340,OMIM:605514.0002
Deletion	NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)	PCDH15	Pathogenic	10	55973706	55973706	CA	C	criteria provided, multiple submitters, no conflicts	OMIM:605514.0003,ClinGen:CA253342
single nucleotide variant	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15	Pathogenic	10	56077174	56077174	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253343,OMIM:605514.0004
single nucleotide variant	NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	PCDH15	Pathogenic/Likely pathogenic	10	56128954	56128954	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253346,UniProtKB:Q96QU1#VAR_024035,OMIM:605514.0007
single nucleotide variant	NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)	PCDH15	Pathogenic	10	55849801	55849801	G	C	criteria provided, single submitter	ClinGen:CA253347,OMIM:605514.0009
single nucleotide variant	NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)	TMPRSS3	Pathogenic	21	43803171	43803171	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253351,UniProtKB:P57727#VAR_011678,OMIM:605511.0003
single nucleotide variant	NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)	TMPRSS3	Likely pathogenic	21	43795961	43795961	G	A	criteria provided, single submitter	ClinGen:CA253353,UniProtKB:P57727#VAR_011679,OMIM:605511.0004
Deletion	NM_153676.4(USH1C):c.497-2del	USH1C	Pathogenic	11	17548589	17548589	CT	C	criteria provided, single submitter	OMIM:605242.0001
Duplication	NM_153676.4(USH1C):c.238dup (p.Arg80fs)	USH1C	Pathogenic	11	17552955	17552956	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA340348,OMIM:605242.0002
single nucleotide variant	NM_153676.4(USH1C):c.216G>A (p.Val72=)	USH1C	Pathogenic	11	17552978	17552978	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340349,OMIM:605242.0004