ClinVar for PubMed (Select 17666888) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2894871	NM_004004.6(GJB2):c.630_634del (p.Cys211fs)	GJB2 (C211fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2691671	NM_004004.6(GJB2):c.557C>A (p.Thr186Lys)	GJB2 (T186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581406	NM_004004.6(GJB2):c.191G>A (p.Cys64Tyr)	GJB2 (C64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2137457	NM_004004.6(GJB2):c.328del (p.Glu110fs)	GJB2 (E110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1806861	NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)	GJB2 (E47K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1458345	NM_004004.6(GJB2):c.402del (p.Trp133_Trp134insTer)	GJB2	Deletion (nonsense)	not provided	GPathogenic
Select item 1384271	NM_004004.6(GJB2):c.208C>G (p.Pro70Ala)	GJB2 (P70A)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1339579	NM_004004.6(GJB2):c.161A>G (p.Asn54Ser)	GJB2 (N54S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1185804	NM_004004.6(GJB2):c.104T>G (p.Ile35Ser)	GJB2 (I35S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1073145	NM_004004.6(GJB2):c.41dup (p.Asn14fs)	GJB2 (N14fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1068780	NM_004004.6(GJB2):c.53_63del (p.Thr18fs)	GJB2 (T18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 997856	NM_004004.6(GJB2):c.-12C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 632210	NM_004004.6(GJB2):c.37G>A (p.Val13Met)	GJB2 (V13M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 553568	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	GJB2 (A78fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic/Likely pathogenic
Select item 551851	NM_004004.6(GJB2):c.278T>C (p.Met93Thr)	GJB2 (M93T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 536989	NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)	GJB6 (C211G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GUncertain significance
Select item 496215	NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)	GJB2 (G59R)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome	GPathogenic
Select item 496214	NM_004004.6(GJB2):c.11del (p.Gly4fs)	GJB2 (G4fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 449490	NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	GJB2 (V37A)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 449488	NM_004004.6(GJB2):c.488T>C (p.Met163Thr)	GJB2 (M163T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 447450	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	GJB2 (V226G)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 447444	NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)	GJB2 (E120K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 438618	NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)	GJB2 (D159N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 438615	NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	GJB2 (I20M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GConflicting classifications of pathogenicity
Select item 429984	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	GJB2 (K188R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 371685	NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)	GJB2 (Q80*)	Single nucleotide variant (nonsense)	Nonsyndromic Deafness +3 more	GPathogenic/Likely pathogenic
Select item 311372	NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	GJB2 (L81V)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 267367	NM_004004.5(GJB2):c.[134G>A;408C>A]	GJB2 (G45E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 228264	NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)	GJB2 (G130A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GConflicting classifications of pathogenicity
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
Select item 189092	NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	GJB2 (Y136*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Rare genetic deafness +10 more	GPathogenic/Likely pathogenic
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 188758	NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	GJB2 (R32C)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 177736	NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	GJB2 (R165W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 177735	NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	GJB2 (Q80P)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 167134	NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GPathogenic/Likely pathogenic
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 158604	NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	GJB2 (L36P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 94391	NM_004004.6(GJB2):c.187G>A (p.Val63Met)	GJB2 (V63M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 44765	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	GJB2 (K224Q)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +12 more	GPathogenic/Likely pathogenic
Select item 44758	NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	GJB2 (A171T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GConflicting classifications of pathogenicity
Select item 44757	NM_004004.6(GJB2):c.499G>A (p.Val167Met)	GJB2 (V167M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44756	NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)	GJB2 (K168R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44753	NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	GJB2 (Y152*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 44752	NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	GJB2 (K15T)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GConflicting classifications of pathogenicity
Select item 44747	NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)	GJB2 (E129K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 44744	NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	GJB2 (Q124*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	not specified +6 more	GPathogenic/Likely pathogenic
Select item 44740	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	GJB2 (G12C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 44733	NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	GJB2 (M93I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
Select item 44731	NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	GJB2 (L76P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 44729	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	GJB2 (M1V)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
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 44722	NM_004004.6(GJB2):c.101T>G (p.Met34Arg)	GJB2 (M34R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 44721	NM_004004.6(GJB2):c.-6T>A	GJB2	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44715	NM_004004.6(GJB2):c.*1C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic genetic hearing loss +5 more	GConflicting classifications of pathogenicity
Select item 29662	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2 (R184Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +6 more	GPathogenic/Likely pathogenic
Select item 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GPathogenic/Likely pathogenic
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +12 more	GPathogenic
Select item 17017	NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	GJB2 (R143Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic/Likely pathogenic
Select item 17011	NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	GJB2 (R75W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +10 more	GConflicting classifications of pathogenicity
Select item 13395	NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)	PRNP (P102L)	Single nucleotide variant (missense variant +1 more)	Spongiform encephalopathy with neuropsychiatric features +3 more	GPathogenic

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Items: 76