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_004817.4(TJP2):c.1992-2A>G	TJP2	Pathogenic	9	71851863	71851863	A	G	criteria provided, single submitter	ClinGen:CA251342,OMIM:607709.0005
single nucleotide variant	NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser)	PRPS1	Pathogenic	X	106884162	106884162	G	T	criteria provided, single submitter	ClinGen:CA270656,OMIM:311850.0021
single nucleotide variant	NM_002764.4(PRPS1):c.343A>G (p.Met115Val)	PRPS1	Pathogenic	X	106884168	106884168	A	G	criteria provided, single submitter	ClinGen:CA270659,OMIM:311850.0022
single nucleotide variant	NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)	PRPS1	Pathogenic	X	106893230	106893230	G	T	criteria provided, single submitter	ClinGen:CA270662,OMIM:311850.0023
single nucleotide variant	NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)	P2RX2	Pathogenic	12	133198121	133198121	G	C	criteria provided, single submitter	ClinGen:CA170681,UniProtKB:Q9UBL9#VAR_070688,OMIM:600844.0002
single nucleotide variant	NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His)	GRHL2	Likely pathogenic	8	102631860	102631860	T	C	criteria provided, single submitter	ClinGen:CA170787,UniProtKB:Q6ISB3#VAR_071989,OMIM:608576.0003
Deletion	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2	Pathogenic/Likely pathogenic	13	20763071	20763074	ATATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172239
single nucleotide variant	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2	Pathogenic/Likely pathogenic	13	20763423	20763423	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172221
single nucleotide variant	NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)	GJB2	Pathogenic	13	20763563	20763563	C	T	criteria provided, single submitter	ClinGen:CA172215
single nucleotide variant	NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	GJB2	Pathogenic	13	20763589	20763589	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA172211