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_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	POU3F4	Likely pathogenic	X	82764332	82764332	A	G	criteria provided, single submitter	ClinGen:CA255977,OMIM:300039.0005
single nucleotide variant	NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	PRPS1	Likely pathogenic	X	106884169	106884169	T	C	criteria provided, single submitter	ClinGen:CA340960,UniProtKB:P60891#VAR_036942,OMIM:311850.0010
single nucleotide variant	NM_002764.4(PRPS1):c.547G>C (p.Asp183His)	PRPS1	Likely pathogenic	X	106888423	106888423	G	C	criteria provided, single submitter	ClinGen:CA254935,UniProtKB:P60891#VAR_004164,OMIM:311850.0002
single nucleotide variant	NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1	Likely pathogenic	X	106884166	106884166	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254933,UniProtKB:P60891#VAR_004163,OMIM:311850.0001
single nucleotide variant	NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)	KCNJ10	Likely pathogenic	1	160012094	160012094	C	G	criteria provided, single submitter	ClinGen:CA118814,UniProtKB:P78508#VAR_063060,OMIM:602208.0007
single nucleotide variant	NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)	TECTA	Likely pathogenic	11	121008357	121008357	T	A	criteria provided, single submitter	ClinGen:CA254067,UniProtKB:O75443#VAR_018970,OMIM:602574.0004
Deletion	NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)	MYO15A	Likely pathogenic	17	18082164	18082164	CA	C	criteria provided, multiple submitters, no conflicts	OMIM:602666.0012
single nucleotide variant	NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)	MYO15A	Likely pathogenic	17	18049249	18049249	A	T	reviewed by expert panel	ClinGen:CA254013,UniProtKB:Q9UKN7#VAR_010304,OMIM:602666.0001
single nucleotide variant	NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)	OTOF	Likely pathogenic	2	26705309	26705309	A	G	criteria provided, single submitter	ClinGen:CA117973,UniProtKB:Q9HC10#VAR_032229,OMIM:603681.0011
single nucleotide variant	NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)	TMPRSS3	Likely pathogenic	21	43795961	43795961	G	A	criteria provided, single submitter	ClinGen:CA253353,UniProtKB:P57727#VAR_011679,OMIM:605511.0004