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_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter)	TRIOBP	Pathogenic	22	38119758	38119758	C	T	criteria provided, single submitter	ClinGen:CA10223544
single nucleotide variant	NM_004208.4(AIFM1):c.710A>T (p.Asp237Val)	AIFM1	Likely pathogenic	X	129274579	129274579	T	A	criteria provided, single submitter	ClinGen:CA414583508
Deletion	NC_000016.10:g.(?_2496129)_(2500978_?)del	TBC1D24	Pathogenic	16	2546130	2550979	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	TBC1D24	Pathogenic	16	2546265	2546265	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7843924
single nucleotide variant	NM_001614.5(ACTG1):c.457A>G (p.Met153Val)	ACTG1	Likely pathogenic	17	79478559	79478559	T	C	criteria provided, single submitter	ClinGen:CA401461116
single nucleotide variant	NM_001001331.4(ATP2B2):c.2136+1G>A	ATP2B2	Pathogenic/Likely pathogenic	3	10400374	10400374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351780194
single nucleotide variant	NM_004526.4(MCM2):c.1901-1G>C	MCM2	Likely pathogenic	3	127336811	127336811	G	C	criteria provided, single submitter	ClinGen:CA354392501
single nucleotide variant	NM_080680.3(COL11A2):c.2583+1G>A	COL11A2	Likely pathogenic	6	33141649	33141649	C	T	criteria provided, single submitter	ClinGen:CA363642862
single nucleotide variant	NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter)	COL11A2	Likely pathogenic	6	33156216	33156216	G	A	criteria provided, single submitter	ClinGen:CA3751643
single nucleotide variant	NM_004817.4(TJP2):c.1056+2T>C	TJP2	Likely pathogenic	9	71840325	71840325	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373530379