"Counsyl"[submitter] AND "GJB2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 555720	NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)	GJB2 (P225L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 550390	NM_004004.6(GJB2):c.668_671del (p.Lys223fs)	GJB2 (K223fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 44765	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	GJB2 (K224Q)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GUncertain significance
Select item 551242	NM_004004.6(GJB2):c.665C>A (p.Ser222Ter)	GJB2 (S222*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 44764	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	GJB2 (K221N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GUncertain significance
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 449487	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2 (R216fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	GJB2-related condition +3 more	GPathogenic/Likely pathogenic
Select item 225222	NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	GJB2 (G200R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188973	NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	GJB2 (G200*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	GJB2-related condition +9 more	GPathogenic/Likely pathogenic
Select item 225375	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	GJB2 (M195V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 371768	NM_004004.6(GJB2):c.575_576del (p.Thr192fs)	GJB2 (T192fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 44760	NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	GJB2 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance FDA Recognized database
Select item 371691	NM_004004.6(GJB2):c.564_565del (p.Lys188fs)	GJB2 (K188fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GPathogenic/Likely pathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GConflicting classifications of pathogenicity
Select item 550847	NM_004004.6(GJB2):c.535G>C (p.Asp179His)	GJB2 (D179H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550961	NM_004004.6(GJB2):c.533T>C (p.Val178Ala)	GJB2 (V178A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557805	NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	GJB2 (W172R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 371755	NM_004004.6(GJB2):c.514del (p.Trp172fs)	GJB2 (W172fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic/Likely pathogenic
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Ear malformation +11 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 177736	NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	GJB2 (R165W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 556456	NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)	GJB2	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +8 more	GConflicting classifications of pathogenicity
Select item 17024	NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	GJB2 (D159V)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +9 more	GUncertain significance
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 44751	NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)	GJB2 (A149T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 371709	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	GJB2 (E147K)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 17017	NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	GJB2 (R143Q)	Single nucleotide variant (missense variant)	not provided +2 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 553209	NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)	GJB2 (S139C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 225223	NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	GJB2 (E129*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195204	NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	GJB2 (R127L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 44744	NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	GJB2 (Q124*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic
Select item 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
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 554454	NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)	GJB2	Duplication (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 21385	NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	GJB2 (S113R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Ichthyosis, hystrix-like, with hearing loss +10 more	GPathogenic/Likely pathogenic
Select item 553587	NM_004004.6(GJB2):c.331A>G (p.Ile111Val)	GJB2 (I111V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GUncertain significance
Select item 556762	NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)	GJB2 (E110fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 551991	NM_004004.6(GJB2):c.318C>A (p.Phe106Leu)	GJB2 (F106L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 79317	NM_004004.6(GJB2):c.312G>A (p.Arg104=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely benign
Select item 556293	NM_004004.6(GJB2):c.301_303del (p.Glu101del)	GJB2 (E101del)	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Ichthyosis, hystrix-like, with hearing loss +9 more	GPathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic/Likely pathogenic
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 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 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +14 more	GConflicting classifications of pathogenicity
Select item 557527	NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)	GJB2 (A88G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 553341	NM_004004.6(GJB2):c.257C>T (p.Thr86Met)	GJB2 (T86M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 550473	NM_004004.6(GJB2):c.257del (p.Thr86fs)	GJB2 (T86fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely 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 17036	NM_004004.6(GJB2):c.250G>A (p.Val84Met)	GJB2 (V84M)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 188756	NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	GJB2 (I82M)	Single nucleotide variant (missense variant)	not provided +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 551879	NM_004004.6(GJB2):c.239dup (p.Leu81fs)	GJB2 (L81fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GPathogenic/Likely pathogenic
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 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 549949	NM_004004.6(GJB2):c.236T>C (p.Leu79Pro)	GJB2 (L79P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
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 189176	NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +13 more	GPathogenic
Select item 555857	NM_004004.6(GJB2):c.212T>C (p.Ile71Thr)	GJB2 (I71T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 284906	NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	GJB2 (G59fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 447443	NM_004004.6(GJB2):c.187G>T (p.Val63Leu)	GJB2 (V63L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GConflicting classifications of pathogenicity
Select item 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 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 552416	NM_004004.6(GJB2):c.157T>C (p.Cys53Arg)	GJB2 (C53R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 554857	NM_004004.6(GJB2):c.154G>C (p.Val52Leu)	GJB2 (V52L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 372771	NM_004004.6(GJB2):c.146C>T (p.Ala49Val)	GJB2 (A49V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GConflicting classifications of pathogenicity
Select item 371728	NM_004004.6(GJB2):c.134del (p.Gly45fs)	GJB2 (G45fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +1 more	GLikely pathogenic
Select item 17033	NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	GJB2 (G45E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556575	NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	GJB2 (G45R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GConflicting classifications of pathogenicity
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 549983	NM_004004.6(GJB2):c.130_131del (p.Trp44fs)	GJB2 (W44fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Ichthyosis, hystrix-like, with hearing loss +9 more	GPathogenic/Likely pathogenic
Select item 188925	NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)	GJB2 (A40G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 499513	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2 (R32L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 44766	NM_004004.6(GJB2):c.95G>A (p.Arg32His)	GJB2 (R32H)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic
Select item 550195	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	GJB2 (R32S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 188758	NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	GJB2 (R32C)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 556318	NM_004004.6(GJB2):c.88A>G (p.Ile30Val)	GJB2 (I30V)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 554744	NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 44738	NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	GJB2 (G11fs)	Deletion	GJB2-related condition +4 more	GPathogenic/Likely pathogenic
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 371766	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	GJB2 (I20T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 558543	NM_004004.6(GJB2):c.49_50del (p.Ser17fs)	GJB2 (S17fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 44752	NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	GJB2 (K15T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2