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_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)	LHFPL5	Pathogenic	6	35773693	35773693	GC	G	criteria provided, single submitter	OMIM:609427.0001
Deletion	NM_182548.4(LHFPL5):c.649+1del	LHFPL5	Likely pathogenic	6	35782559	35782559	CG	C	criteria provided, single submitter	OMIM:609427.0003
single nucleotide variant	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)	GPSM2	Pathogenic	1	109440214	109440214	C	T	criteria provided, single submitter	OMIM:609245.0001,ClinGen:CA115212
single nucleotide variant	NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)	WHRN	Pathogenic	9	117166262	117166262	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252404,OMIM:607928.0001
single nucleotide variant	NM_004817.4(TJP2):c.143T>C (p.Val48Ala)	TJP2	Pathogenic	9	71831283	71831283	T	C	criteria provided, single submitter	ClinGen:CA115861,UniProtKB:Q9UDY2#VAR_016004,OMIM:607709.0001
single nucleotide variant	NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)	SLC17A8	Likely pathogenic	12	100790151	100790151	C	T	criteria provided, single submitter	ClinGen:CA252550,UniProtKB:Q8NDX2#VAR_054130,OMIM:607557.0001
single nucleotide variant	NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	TMIE	Pathogenic/Likely pathogenic	3	46750654	46750654	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252746,UniProtKB:Q8NEW7#VAR_021525,OMIM:607237.0003
single nucleotide variant	NM_144672.4(OTOA):c.1320+2T>C	OTOA	Pathogenic	16	21721426	21721426	T	C	criteria provided, single submitter	OMIM:607038.0001
single nucleotide variant	NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)	TMC1	Pathogenic/Likely pathogenic	9	75431077	75431077	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253001,UniProtKB:Q8TDI8#VAR_014125,OMIM:606706.0001
single nucleotide variant	NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	TMC1	Pathogenic	9	75309494	75309494	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253002,OMIM:606706.0002