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_001384474.1(LOXHD1):c.4741-1G>A	LOXHD1	Pathogenic/Likely pathogenic	18	44104565	44104565	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607590
single nucleotide variant	NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln)	ACTG1	Likely pathogenic	17	79478379	79478379	T	G	criteria provided, single submitter	ClinGen:CA16607875
single nucleotide variant	NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)	TBC1D24	Pathogenic	16	2546270	2546270	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608135
single nucleotide variant	NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)	TBC1D24	Likely pathogenic	16	2546470	2546470	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608138
single nucleotide variant	NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)	TMPRSS3	Pathogenic/Likely pathogenic	21	43809044	43809044	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10042685
Duplication	NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup	TJP2	Pathogenic	9	71833276	71861605	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)	TJP2	Likely pathogenic	9	71841091	71841091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609394
Deletion	NM_000260.4(MYO7A):c.565_566del (p.Val189fs)	MYO7A	Pathogenic	11	76867800	76867801	GGT	G	criteria provided, single submitter	ClinGen:CA16609395
single nucleotide variant	NM_000260.4(MYO7A):c.849+5G>A	MYO7A	Likely pathogenic	11	76868443	76868443	G	A	criteria provided, single submitter	ClinGen:CA16609450
Deletion	NM_144672.4(OTOA):c.828del (p.Ser277fs)	OTOA	Pathogenic/Likely pathogenic	16	21709183	21709183	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7952431