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_033109.5(PNPT1):c.760C>A (p.Gln254Lys)	PNPT1	Pathogenic	2	55900134	55900134	G	T	criteria provided, single submitter	ClinGen:CA10586244,OMIM:610316.0013
copy number loss	GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1	TMC1	Pathogenic	9	75161655	75429310	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp)	COL11A1	Pathogenic	1	103471870	103471870	C	T	criteria provided, single submitter	ClinGen:CA10588265
single nucleotide variant	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	GJB2	Pathogenic	13	20763215	20763215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904251,UniProtKB:P29033#VAR_009968
Duplication	NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)	SLC26A4	Pathogenic	7	107330580	107330581	C	CT	criteria provided, single submitter	ClinGen:CA645372448
Duplication	NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)	TJP2	Pathogenic	9	71836028	71836029	G	GACCTC	criteria provided, single submitter	ClinGen:CA10603037
single nucleotide variant	NM_024678.6(NARS2):c.822+2T>G	NARS2	Pathogenic	11	78204107	78204107	A	C	criteria provided, single submitter	ClinGen:CA10603276
single nucleotide variant	NM_001614.5(ACTG1):c.863A>G (p.Asp288Gly)	ACTG1	Likely pathogenic	17	79478074	79478074	T	C	criteria provided, single submitter	ClinGen:CA10603415
single nucleotide variant	NM_001614.5(ACTG1):c.131T>A (p.Met44Lys)	ACTG1	Likely pathogenic	17	79479161	79479161	A	T	criteria provided, single submitter	ClinGen:CA10603616
single nucleotide variant	NM_016239.4(MYO15A):c.3866+1G>A	MYO15A	Pathogenic/Likely pathogenic	17	18029771	18029771	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604141