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_001614.5(ACTG1):c.847A>G (p.Met283Val)	ACTG1	Likely pathogenic	17	79478090	79478090	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys)	ACTG1	Likely pathogenic	17	79479015	79479015	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp)	ACTG1	Likely pathogenic	17	79477842	79477842	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	AIFM1	Pathogenic	X	129270060	129270060	C	T	criteria provided, single submitter	ClinGen:CA175068,UniProtKB:O95831#VAR_076214,OMIM:300169.0007
single nucleotide variant	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1	Pathogenic/Likely pathogenic	X	129270061	129270061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA175066,UniProtKB:O95831#VAR_076215,OMIM:300169.0006
single nucleotide variant	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	AIFM1	Likely pathogenic	X	129270141	129270141	A	C	criteria provided, single submitter	ClinGen:CA322395
single nucleotide variant	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1	Likely pathogenic	X	129267384	129267384	C	T	criteria provided, single submitter	ClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003
single nucleotide variant	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1	Pathogenic/Likely pathogenic	X	129271109	129271109	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043577,OMIM:300169.0015
single nucleotide variant	NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser)	AIFM1	Likely pathogenic	X	129281495	129281495	A	G	criteria provided, single submitter	ClinGen:CA414587939
single nucleotide variant	NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	AIFM1	Likely pathogenic	X	129270121	129270121	G	T	criteria provided, single submitter	ClinGen:CA414575358