ClinVar for PubMed (Select 15070423) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644162	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2 (V193fs)	Deletion (frameshift variant)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GPathogenic/Likely pathogenic
Select item 284906	NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	GJB2 (G59fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 227385	NM_004004.6(GJB2):c.78C>T (p.Thr26=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic
Select item 177819	NM_004004.5(GJB2):c.[79G>A;341A>G]	GJB2 (V27I +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign/Likely benign
Select item 158605	NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 44766	NM_004004.6(GJB2):c.95G>A (p.Arg32His)	GJB2 (R32H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +12 more	GPathogenic/Likely pathogenic
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GBenign/Likely benign
Select item 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +5 more	GBenign/Likely benign
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GBenign/Likely benign
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GBenign/Likely benign
Select item 44730	NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys)	GJB2 (Y68C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 44724	NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	GJB2 (G4D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +5 more	GBenign
Select item 36277	NM_004004.6(GJB2):c.*84T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +3 more	GBenign
Select item 21389	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	GJB2 (S19T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17023	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2 (V37I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Nonsyndromic genetic hearing loss +11 more	GPathogenic
Select item 17005	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2 (E47*)	Single nucleotide variant (nonsense)	Hearing impairment +11 more	GPathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

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Items: 27