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_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9	Pathogenic/Likely pathogenic	22	36701983	36701983	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002473.6(MYH9):c.2668del (p.Gln890fs)	MYH9	Likely pathogenic	22	36697067	36697067	TG	T	criteria provided, single submitter	-
Deletion	NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs)	MYH9	Pathogenic	22	36678818	36678827	GGCAGGTCCCC	G	criteria provided, single submitter	-
Deletion	NM_002473.6(MYH9):c.5800del (p.Met1934fs)	MYH9	Likely pathogenic	22	36678797	36678797	AT	A	criteria provided, single submitter	-
Deletion	NM_002473.6(MYH9):c.5808del (p.Gly1938fs)	MYH9	Likely pathogenic	22	36678789	36678789	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter)	TRIOBP	Pathogenic	22	38121531	38121531	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)	TRIOBP	Pathogenic/Likely pathogenic	22	38120496	38120496	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs)	TRIOBP	Pathogenic	22	38122040	38122086	ACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCT	A	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)	MYH9	Likely pathogenic	22	36712671	36712671	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9	Likely pathogenic	22	36688105	36688105	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323590385