ClinVar for MedGen (Select 82727) - ClinVar

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

Links from MedGen

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338645	NM_004004.6(GJB2):c.[101T>C;550C>T]	GJB2 (M34T +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 1085833	NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	GJB2	Single nucleotide variant (synonymous variant)	Knuckle pads, deafness AND leukonychia syndrome +8 more	GLikely benign
Select item 1078095	NM_004004.6(GJB2):c.195C>T (p.Tyr65=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1064972	NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)	GJB2 (G109E)	Single nucleotide variant (missense variant)	Hearing impairment +10 more	GUncertain significance
Select item 883513	NM_004004.6(GJB2):c.-1G>A	GJB2	Single nucleotide variant (5 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
Select item 882590	NM_004004.6(GJB2):c.*115A>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
Select item 644162	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2 (V193fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss +9 more	GPathogenic/Likely pathogenic
Select item 585738	NM_004004.6(GJB2):c.14C>T (p.Thr5Met)	GJB2 (T5M)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
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 550195	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	GJB2 (R32S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +8 more	GPathogenic/Likely pathogenic
Select item 499513	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2 (R32L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +9 more	GPathogenic/Likely pathogenic
Select item 449487	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2 (R216fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
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 447447	NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)	GJB2 (I196T)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GUncertain significance
Select item 447446	NM_004004.6(GJB2):c.512C>T (p.Ala171Val)	GJB2 (A171V)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 375406	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 265481	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	GJB2 (C169Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +9 more	GPathogenic
Select item 236061	NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)	GJB2 (W134R)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +8 more	GUncertain significance
Select item 225375	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	GJB2 (M195V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
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 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Ear malformation +10 more	GPathogenic/Likely pathogenic
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GPathogenic/Likely pathogenic
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Inborn genetic diseases +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 177751	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	GJB2 (V63A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GConflicting classifications of pathogenicity
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Ichthyosis, hystrix-like, with hearing loss +11 more	GPathogenic
Select item 163525	NM_004004.6(GJB2):c.-216T>G	GJB2	Single nucleotide variant	Ichthyosis, hystrix-like, with hearing loss +9 more	GBenign/Likely benign
Select item 163514	NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	GJB2 (R127C)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 44767	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2 (W3*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic/Likely pathogenic
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 44764	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	GJB2 (K221N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GUncertain significance
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +12 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign
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 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	not provided +10 more	GBenign/Likely benign
Select item 44752	NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	GJB2 (K15T)	Single nucleotide variant (missense variant)	Mutilating keratoderma +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 1B +11 more	GPathogenic/Likely pathogenic
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +9 more	GBenign/Likely benign
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 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	Rare genetic deafness +10 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)	Rare genetic deafness +9 more	GPathogenic/Likely pathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
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 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic
Select item 36278	NM_004004.6(GJB2):c.*111C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 3A +8 more	GBenign
Select item 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +11 more	GPathogenic/Likely pathogenic
Select item 17034	NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)	GJB2 (G59S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +12 more	GPathogenic
Select item 17030	NM_004004.6(GJB2):c.162C>A (p.Asn54Lys)	GJB2 (N54K)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome	GPathogenic
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 104 +14 more	GPathogenic/Likely pathogenic
Select item 17024	NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	GJB2 (D159V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GUncertain significance
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 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +14 more	GPathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
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 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GConflicting classifications of pathogenicity
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Knuckle pads, deafness AND leukonychia syndrome +11 more	GPathogenic
Select item 17005	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2 (E47*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +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 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	not provided +12 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 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 67