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_002473.6(MYH9):c.3464C>T (p.Thr1155Ile)	MYH9	Pathogenic	22	36691572	36691572	G	A	criteria provided, single submitter	ClinGen:CA257093,UniProtKB:P35579#VAR_010794,OMIM:160775.0007
single nucleotide variant	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	MYH9	Pathogenic	22	36702031	36702031	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257095,UniProtKB:P35579#VAR_010792,OMIM:160775.0006
single nucleotide variant	NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	MYH9	Pathogenic/Likely pathogenic	22	36702021	36702021	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257097,UniProtKB:P35579#VAR_010793,OMIM:160775.0008
single nucleotide variant	NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	MYH9	Pathogenic/Likely pathogenic	22	36702030	36702030	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257101,UniProtKB:P35579#VAR_018311,OMIM:160775.0009
single nucleotide variant	NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	MYH9	Pathogenic/Likely pathogenic	22	36688106	36688106	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123739,UniProtKB:P35579#VAR_018316,OMIM:160775.0010
single nucleotide variant	NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	MYH9	Pathogenic/Likely pathogenic	22	36744995	36744995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257103,UniProtKB:P35579#VAR_018309,OMIM:160775.0012
single nucleotide variant	NM_014208.3(DSPP):c.135+1G>A	DSPP	Pathogenic	4	88533341	88533341	G	A	criteria provided, multiple submitters, no conflicts	OMIM:125485.0002
single nucleotide variant	NM_014208.3(DSPP):c.44C>T (p.Ala15Val)	DSPP	Pathogenic	4	88532104	88532104	C	T	criteria provided, single submitter	ClinGen:CA126930,UniProtKB:Q9NZW4#VAR_036862,OMIM:125485.0007
single nucleotide variant	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2	Pathogenic	13	20763620	20763620	A	G	reviewed by expert panel	ClinGen:CA172206,UniProtKB:P29033#VAR_002138,OMIM:121011.0001
single nucleotide variant	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2	Pathogenic	13	20763490	20763490	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341437,OMIM:121011.0002