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
Duplication	NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)	SLC26A4	Pathogenic	7	107350514	107350515	A	AGCTGG	criteria provided, single submitter	ClinGen:CA658656001,OMIM:605646.0015
single nucleotide variant	NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly)	CDH23	Pathogenic	10	73442277	73442277	A	G	criteria provided, single submitter	ClinGen:CA377132590
single nucleotide variant	NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala)	CDH23	Pathogenic	10	73537468	73537468	A	C	criteria provided, single submitter	ClinGen:CA377139986
single nucleotide variant	NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)	CDH23	Pathogenic	10	73538025	73538025	A	C	criteria provided, single submitter	ClinGen:CA377141156
single nucleotide variant	NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	CDH23	Pathogenic	10	73550924	73550924	C	T	reviewed by expert panel	ClinGen:CA5545996
Deletion	NM_022124.6(CDH23):c.6667del (p.Leu2223fs)	CDH23	Pathogenic	10	73553351	73553351	GC	G	criteria provided, single submitter	ClinGen:CA658656075
single nucleotide variant	NM_022124.6(CDH23):c.6712+1G>A	CDH23	Pathogenic	10	73553398	73553398	G	A	criteria provided, single submitter	ClinGen:CA377155633
single nucleotide variant	NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)	CDH23	Pathogenic	10	73559336	73559336	G	A	criteria provided, single submitter	ClinGen:CA377159510
Deletion	NM_022124.6(CDH23):c.9129del (p.Asn3044fs)	CDH23	Pathogenic	10	73571122	73571122	CG	C	criteria provided, single submitter	ClinGen:CA658656069
Indel	NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)	GJB2	Pathogenic	13	20763121	20763129	na	na	criteria provided, single submitter	-