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_004004.6(GJB2):c.19C>T (p.Gln7Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763702	20763702	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261641
single nucleotide variant	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	GJB2	Pathogenic	13	20763720	20763720	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198806
single nucleotide variant	NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	GJB2	Likely pathogenic	13	20763494	20763494	A	G	reviewed by expert panel	ClinGen:CA134953
single nucleotide variant	NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	GJB2	Pathogenic/Likely pathogenic	13	20763442	20763442	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA134957,UniProtKB:P29033#VAR_023609
single nucleotide variant	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2	Pathogenic/Likely pathogenic	13	20763438	20763438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA172220,UniProtKB:P29033#VAR_002144
Deletion	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2	Pathogenic	13	20763421	20763422	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261643
Deletion	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2	Pathogenic/Likely pathogenic	13	20763395	20763408	CCCCTTGATGAACTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA172223,OMIM:121011.0034
Deletion	NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	GJB2	Pathogenic/Likely pathogenic	13	20763653	20763690	GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261644
single nucleotide variant	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	GJB2	Likely pathogenic	13	20763687	20763687	C	A	reviewed by expert panel	ClinGen:CA172224
single nucleotide variant	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2	Pathogenic/Likely pathogenic	13	20763356	20763356	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172230