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
Deletion	NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs)	MYO3A	Pathogenic/Likely pathogenic	10	26482200	26482203	TTAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5445486
single nucleotide variant	NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter)	TBC1D24	Pathogenic	16	2546768	2546768	C	T	criteria provided, single submitter	ClinGen:CA7844031
Deletion	NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)	TBC1D24	Pathogenic	16	2546320	2546320	GC	G	criteria provided, single submitter	ClinGen:CA620709056
single nucleotide variant	NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter)	MYO6	Pathogenic	6	76599832	76599832	C	A	criteria provided, single submitter	ClinGen:CA364776561
single nucleotide variant	NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	PDZD7	Pathogenic/Likely pathogenic	10	102783745	102783745	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5654447,OMIM:612971.0003
single nucleotide variant	NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)	PDZD7	Likely pathogenic	10	102781568	102781568	A	C	criteria provided, single submitter	ClinGen:CA378229536,OMIM:612971.0004
single nucleotide variant	NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)	PDZD7	Likely pathogenic	10	102777878	102777878	G	T	criteria provided, single submitter	ClinGen:CA378227926,OMIM:612971.0005
single nucleotide variant	NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)	PDZD7	Pathogenic	10	102775494	102775494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA378226987,OMIM:612971.0008
single nucleotide variant	NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)	GAB1	Pathogenic	4	144336904	144336904	G	A	criteria provided, single submitter	OMIM:604439.0001
single nucleotide variant	NM_017697.4(ESRP1):c.775C>G (p.Leu259Val)	ESRP1	Pathogenic	8	95677174	95677174	C	G	criteria provided, single submitter	OMIM:612959.0002