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_013296.5(GPSM2):c.1393C>T (p.Gln465Ter)	GPSM2	Likely pathogenic	1	109461364	109461364	C	T	criteria provided, single submitter	ClinGen:CA341471364
Deletion	NM_004004.6(GJB2):c.85_87del (p.Phe29del)	GJB2	Likely pathogenic	13	20763634	20763636	TGAA	T	criteria provided, single submitter	ClinGen:CA658653811
single nucleotide variant	NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp)	PRPS1	Pathogenic/Likely pathogenic	X	106888462	106888462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413811807
single nucleotide variant	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1	Likely pathogenic	X	106888516	106888516	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413812308
Deletion	NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs)	CDH23	Pathogenic	10	73450297	73450301	TACTCC	T	criteria provided, single submitter	ClinGen:CA658656065
single nucleotide variant	NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter)	OTOF	Pathogenic	2	26684631	26684631	G	C	criteria provided, single submitter	ClinGen:CA346131386
Deletion	NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs)	OTOF	Pathogenic	2	26702469	26702488	GGGGCCGAGGCCGCTGGGGCC	G	criteria provided, single submitter	ClinGen:CA658655641
single nucleotide variant	NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter)	OTOF	Pathogenic	2	26705431	26705431	A	T	criteria provided, single submitter	ClinGen:CA346135844
single nucleotide variant	NM_194248.3(OTOF):c.897+5G>A	OTOF	Pathogenic	2	26717805	26717805	C	T	criteria provided, single submitter	ClinGen:CA658655645
single nucleotide variant	NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)	SLC26A4	Pathogenic	7	107302168	107302168	A	G	criteria provided, single submitter	ClinGen:CA368844992