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_001243133.2(NLRP3):c.785T>G (p.Val262Gly)	NLRP3	Likely pathogenic	1	247587536	247587536	T	G	criteria provided, single submitter	ClinGen:CA281363
single nucleotide variant	NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)	NLRP3	Pathogenic	1	247587529	247587529	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116784,OMIM:606416.0005
single nucleotide variant	NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr)	NLRP3	Likely pathogenic	1	247587266	247587266	T	C	criteria provided, single submitter	ClinGen:CA281331
single nucleotide variant	NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)	NLRP3	Likely pathogenic	1	247582157	247582157	G	C	criteria provided, single submitter	ClinGen:CA1494741,OMIM:606416.0012
single nucleotide variant	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	PJVK	Pathogenic	2	179320876	179320876	C	T	criteria provided, multiple submitters, no conflicts	OMIM:610219.0001,ClinGen:CA251743,UniProtKB:Q0ZLH3#VAR_027388
Deletion	NM_001042702.5(PJVK):c.515_516del (p.Ser172fs)	PJVK	Pathogenic	2	179320843	179320844	GTC	G	criteria provided, single submitter	ClinGen:CA658795963
single nucleotide variant	NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)	PJVK	Pathogenic/Likely pathogenic	2	179320828	179320828	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251745,OMIM:610219.0004
single nucleotide variant	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	PJVK	Pathogenic	2	179319253	179319253	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002241.5(KCNJ10):c.-1+1G>T	KCNJ10	Likely pathogenic	1	160039811	160039811	C	A	criteria provided, single submitter	ClinGen:CA315277
single nucleotide variant	NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	KCNJ10	Likely pathogenic	1	160012130	160012130	G	A	criteria provided, single submitter	ClinGen:CA129068,OMIM:602208.0010