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_016356.5(DCDC2):c.942del (p.Gly315fs)	DCDC2	Pathogenic/Likely pathogenic	6	24205311	24205311	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796725
Deletion	NM_004817.4(TJP2):c.1451del (p.Pro484fs)	TJP2	Pathogenic	9	71843023	71843023	AC	A	criteria provided, single submitter	ClinGen:CA658797210
Duplication	NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)	PCDH15	Pathogenic	10	55719566	55719567	C	CATCACAGG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001384140.1(PCDH15):c.706-3_717del	PCDH15	Pathogenic/Likely pathogenic	10	56077190	56077204	TTTGGGCACGGTCCTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5506603
single nucleotide variant	NM_153676.4(USH1C):c.2226+2T>C	USH1C	Likely pathogenic	11	17523484	17523484	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA379803801
single nucleotide variant	NM_001854.4(COL11A1):c.4032+1G>A	COL11A1	Pathogenic/Likely pathogenic	1	103379192	103379192	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341160263
single nucleotide variant	NM_016356.5(DCDC2):c.294-2A>G	DCDC2	Pathogenic	6	24353853	24353853	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA363278507
single nucleotide variant	NM_004817.4(TJP2):c.1780+1G>T	TJP2	Pathogenic	9	71849464	71849464	G	T	criteria provided, single submitter	ClinGen:CA373532242
Insertion	NM_001854.4(COL11A1):c.2485_2486insAAG (p.Ser828_Gly829insGlu)	COL11A1	Likely pathogenic	1	103453205	103453206	C	CCTT	criteria provided, single submitter	ClinGen:CA658795495
single nucleotide variant	NM_001854.4(COL11A1):c.2808+1G>A	COL11A1	Pathogenic	1	103440385	103440385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341161925