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_022124.5(CDH23):c.(?_3716)_(4146_?)del	CDH23	Pathogenic	10	73491744	73494038	na	na	criteria provided, single submitter	-
Deletion	NM_000260.3(MYO7A):c.(?_6355)_(6648_?)del	MYO7A	Pathogenic	11	76923997	76925741	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001393500.2(TOMT):c.259+4A>C	LRTOMT	Likely pathogenic	11	71817260	71817260	A	C	criteria provided, single submitter	ClinGen:CA273655,OMIM:612414.0001
Deletion	NM_138691.3(TMC1):c.22del (p.Ile8fs)	TMC1	Pathogenic	9	75303628	75303628	CA	C	criteria provided, single submitter	ClinGen:CA273572
single nucleotide variant	NM_022124.6(CDH23):c.7873-2A>T	CDH23	Pathogenic	10	73565561	73565561	A	T	criteria provided, single submitter	ClinGen:CA273133
single nucleotide variant	NM_005422.4(TECTA):c.6155G>A (p.Cys2052Tyr)	TECTA	Likely pathogenic	11	121058696	121058696	G	A	criteria provided, single submitter	ClinGen:CA273240
single nucleotide variant	NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	PCDH15	Pathogenic	10	55849814	55849814	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273444
single nucleotide variant	NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	MYO7A	Pathogenic/Likely pathogenic	11	76901883	76901883	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278722
single nucleotide variant	NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)	MYO7A	Pathogenic/Likely pathogenic	11	76903150	76903150	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA180657,UniProtKB:Q13402#VAR_027309
single nucleotide variant	NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro)	MYO7A	Likely pathogenic	11	76915258	76915258	A	C	criteria provided, single submitter	ClinGen:CA278738