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_004817.4(TJP2):c.1697T>A (p.Leu566Ter)	TJP2	Pathogenic	9	71849380	71849380	T	A	criteria provided, single submitter	ClinGen:CA10604153
single nucleotide variant	NM_001854.4(COL11A1):c.3168+1G>T	COL11A1	Pathogenic	1	103427421	103427421	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604524
Deletion	NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del)	COL11A1	Likely pathogenic	1	103379216	103379227	TCACCCTTGTCAC	T	criteria provided, single submitter	ClinGen:CA10604533
Deletion	NM_017433.5(MYO3A):c.3447_3448del (p.Arg1150fs)	MYO3A	Pathogenic	10	26462639	26462640	GAA	G	criteria provided, single submitter	ClinGen:CA5445271
Deletion	NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	GJB2	Pathogenic	13	20763530	20763545	GCACACGTTCTTGCAGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904305
Deletion	NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107330639	107330639	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605055
single nucleotide variant	NM_001145026.2(PTPRQ):c.5390-1G>T	PTPRQ	Pathogenic	12	81013932	81013932	G	T	criteria provided, single submitter	ClinGen:CA10605280
single nucleotide variant	NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)	LOXHD1	Pathogenic	18	44181420	44181420	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605528
single nucleotide variant	NM_001384474.1(LOXHD1):c.4376-2A>G	LOXHD1	Pathogenic/Likely pathogenic	18	44109296	44109296	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605732
single nucleotide variant	NM_017433.5(MYO3A):c.2506-1G>A	MYO3A	Pathogenic/Likely pathogenic	10	26436358	26436358	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5444987