ClinVar for MedGen (Select 355410) - ClinVar - NCBI

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	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 883325	NM_004004.6(GJB2):c.*550A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882688	NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)	GJB2 (A96G)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882641	NM_004004.6(GJB2):c.546G>A (p.Val182=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 882640	NM_004004.6(GJB2):c.557C>T (p.Thr186Met)	GJB2 (T186M)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +2 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 882589	NM_004004.6(GJB2):c.*236A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882542	NM_004004.6(GJB2):c.*679T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882374	NM_004004.6(GJB2):c.*52C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882321	NM_004004.6(GJB2):c.*308G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882320	NM_004004.6(GJB2):c.*385G>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 881615	NM_004004.6(GJB2):c.-170C>G	GJB2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 881104	NM_004004.6(GJB2):c.174A>G (p.Pro58=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GConflicting classifications of pathogenicity
Select item 881103	NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)	GJB2 (D66N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GConflicting classifications of pathogenicity
Select item 880907	NM_004004.6(GJB2):c.*1040A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 3A +2 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 633243	NM_004004.6(GJB2):c.510C>T (p.Asn170=)	GJB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 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 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 369056	NC_000013.11:g.20187454C>T	GJB2	Single nucleotide variant	Hearing loss, autosomal recessive +5 more	GBenign
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 311371	NM_004004.6(GJB2):c.*104A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 311370	NM_004004.6(GJB2):c.*114T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311369	NM_004004.6(GJB2):c.*168A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 311368	NM_004004.6(GJB2):c.*412A>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311367	NM_004004.6(GJB2):c.*423C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311366	NM_004004.6(GJB2):c.*482A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311365	NM_004004.6(GJB2):c.*544T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311364	NM_004004.6(GJB2):c.*598C>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311363	NM_004004.6(GJB2):c.*786G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 311362	NM_004004.6(GJB2):c.*800A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GUncertain significance
Select item 311361	NM_004004.6(GJB2):c.*931C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 311360	NM_004004.6(GJB2):c.*979A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311359	NM_004004.6(GJB2):c.*1016A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 311358	NM_004004.6(GJB2):c.*1033G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 311357	NM_004004.6(GJB2):c.*1067G>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 311356	NM_004004.6(GJB2):c.*1152G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +3 more	GBenign
Select item 311355	NM_004004.6(GJB2):c.*1197T>A	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 311354	NM_004004.6(GJB2):c.*1206T>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GUncertain significance
Select item 311353	NM_004004.6(GJB2):c.*1277T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +3 more	GBenign
Select item 311352	NM_004004.6(GJB2):c.1291_1294del	GJB2	Deletion (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GUncertain significance
Select item 265481	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	GJB2 (C169Y)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +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 228700	NM_004004.6(GJB2):c.-22-6T>C	GJB2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 195206	NM_004004.6(GJB2):c.120A>C (p.Ala40=)	GJB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	GJB2-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GPathogenic
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +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 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	Rare genetic deafness +11 more	GPathogenic
Select item 177736	NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	GJB2 (R165W)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
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 94388	NM_004004.6(GJB2):c.-15C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
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)	Mutilating keratoderma +12 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	Mutilating keratoderma +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 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	Nonsyndromic Deafness +7 more	GConflicting classifications of pathogenicity
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Mutilating keratoderma +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)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
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)	Mutilating keratoderma +9 more	GBenign/Likely benign
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	Mutilating keratoderma +10 more	GPathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 44733	NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	GJB2 (M93I)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +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)	Mutilating keratoderma +9 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	GConflicting classifications of pathogenicity
Select item 44721	NM_004004.6(GJB2):c.-6T>A	GJB2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 44717	NM_004004.6(GJB2):c.-22-12C>T	GJB2	Single nucleotide variant (intron variant)	Ichthyosis, hystrix-like, with hearing loss +5 more	GBenign
Select item 44716	NM_004004.6(GJB2):c.*3C>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44715	NM_004004.6(GJB2):c.*1C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign
Select item 36278	NM_004004.6(GJB2):c.*111C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +8 more	GBenign
Select item 36277	NM_004004.6(GJB2):c.*84T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign

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