ClinVar for MedGen (Select 120536) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299641	NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)	GJB2 (P175R)	Single nucleotide variant (missense variant)	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	GLikely pathogenic
Select item 1085833	NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +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)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GPathogenic/Likely pathogenic
Select item 599264	NM_004004.6(GJB2):c.244A>G (p.Ile82Val)	GJB2 (I82V)	Single nucleotide variant (missense variant)	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	GLikely 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)	not provided +8 more	GPathogenic/Likely 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 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)	not provided +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 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 265481	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	GJB2 (C169Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GConflicting classifications of pathogenicity
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	GLikely pathogenic FDA Recognized database
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Rare genetic deafness +11 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 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 177751	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	GJB2 (V63A)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	not provided +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)	Rare genetic deafness +9 more	GPathogenic/Likely pathogenic
Select item 44767	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2 (W3*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +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)	Mutilating keratoderma +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 1A +12 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 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 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 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 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 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)	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 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +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 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 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)	not provided +10 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)	not provided +11 more	GPathogenic/Likely 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 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 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	GJB2-related disorder +15 more	GPathogenic/Likely pathogenic
Select item 17028	NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)	GJB2 (D50Y)	Single nucleotide variant (missense variant)	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	GPathogenic
Select item 17024	NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	GJB2 (D159V)	Single nucleotide variant (missense variant)	not specified +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 17022	NM_004004.6(GJB2):c.50C>T (p.Ser17Phe)	GJB2 (S17F)	Single nucleotide variant (missense variant)	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	GPathogenic
Select item 17021	NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)	GJB2 (G12R)	Single nucleotide variant (missense variant)	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	GPathogenic
Select item 17020	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	GJB2 (D50N)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +14 more	GConflicting classifications of pathogenicity
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)	GJB2-related disorder +12 more	GPathogenic
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 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 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	not provided +13 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

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Items: 72