GJB2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369056	NC_000013.11:g.20187454C>T	GJB2	Single nucleotide variant	Mutilating keratoderma +5 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 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 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 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 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 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 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 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 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 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 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 3069173	NM_004004.6(GJB2):c.248_*825del (p.Phe83fs)	GJB2 (F83fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 311371	NM_004004.6(GJB2):c.*104A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 36277	NM_004004.6(GJB2):c.*84T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GBenign
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 989603	NM_004004.6(GJB2):c.*4A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
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 provided +5 more	GConflicting classifications of pathogenicity
Select item 2793174	NM_004004.6(GJB2):c.680A>G (p.Ter227=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585322	NM_004004.6(GJB2):c.677T>A (p.Val226Asp)	GJB2 (V226D)	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 3251914	NM_004004.6(GJB2):c.676G>A (p.Val226Ile)	GJB2 (V226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795789	NM_004004.6(GJB2):c.675A>T (p.Pro225=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1608523	NM_004004.6(GJB2):c.672G>A (p.Lys224=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	not specified +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)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GUncertain significance
Select item 585327	NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)	GJB2 (C218Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 1297639	NM_004004.6(GJB2):c.647G>T (p.Arg216Ile)	GJB2 (R216I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560671	NM_004004.6(GJB2):c.646A>C (p.Arg216=)	GJB2	Single nucleotide variant (synonymous variant)	Hearing loss	GLikely benign
Select item 1090000	NM_004004.6(GJB2):c.645T>C (p.Ile215=)	GJB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 449487	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2 (R216fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2839828	NM_004004.6(GJB2):c.641T>G (p.Leu214Arg)	GJB2 (L214R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2894871	NM_004004.6(GJB2):c.630_634del (p.Cys211fs)	GJB2 (C211fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	GJB2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 975153	NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)	GJB2 (C211Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 447449	NM_004004.6(GJB2):c.628T>C (p.Leu210=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1454400	NM_004004.6(GJB2):c.624del (p.Glu209fs)	GJB2 (E209fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1119265	NM_004004.6(GJB2):c.621C>T (p.Val207=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 2766665	NM_004004.6(GJB2):c.612G>T (p.Leu204=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532558	NM_004004.6(GJB2):c.609C>T (p.Ile203=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 +9 more	GBenign
Select item 2994400	NM_004004.6(GJB2):c.607A>C (p.Ile203Leu)	GJB2 (I203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131267	NM_004004.6(GJB2):c.606C>T (p.Cys202=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627447	NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)	GJB2 (C202*)	Duplication (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +1 more	GPathogenic/Likely pathogenic
Select item 17018	NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)	GJB2 (C202F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137452	NM_004004.6(GJB2):c.604T>C (p.Cys202Arg)	GJB2 (C202R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1131979	NM_004004.6(GJB2):c.600A>C (p.Gly200=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447448	NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)	GJB2	Indel	not provided	GPathogenic
Select item 44761	NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG	GJB2	Indel	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 225222	NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	GJB2 (G200R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +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 1663871	NM_004004.6(GJB2):c.597T>A (p.Ser199=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530354	NM_004004.6(GJB2):c.597T>C (p.Ser199=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2744457	NM_004004.6(GJB2):c.595T>C (p.Ser199Pro)	GJB2 (S199P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2087433	NM_004004.6(GJB2):c.595T>G (p.Ser199Ala)	GJB2 (S199A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1968560	NM_004004.6(GJB2):c.594G>A (p.Val198=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298565	NM_004004.6(GJB2):c.592G>A (p.Val198Met)	GJB2 (V198M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2643668	NM_004004.6(GJB2):c.588T>C (p.Ile196=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1479826	NM_004004.6(GJB2):c.585G>T (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1334161	NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 438621	NM_004004.6(GJB2):c.585G>A (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438620	NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	GJB2 (M195T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 1966753	NM_004004.6(GJB2):c.583A>T (p.Met195Leu)	GJB2 (M195L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 195207	NM_004004.6(GJB2):c.582C>T (p.Phe194=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2089753	NM_004004.6(GJB2):c.576A>C (p.Thr192=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 371768	NM_004004.6(GJB2):c.575_576del (p.Thr192fs)	GJB2 (T192fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic/Likely pathogenic
Select item 2853623	NM_004004.6(GJB2):c.568_571del (p.Val190fs)	GJB2 (V190fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2743481	NM_004004.6(GJB2):c.570C>T (p.Val190=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 978418	NM_004004.6(GJB2):c.569T>A (p.Val190Asp)	GJB2 (V190D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 2879418	NM_004004.6(GJB2):c.567T>C (p.Thr189=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252256	NM_004004.6(GJB2):c.566C>G (p.Thr189Ser)	GJB2 (T189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44759	NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)	GJB2 (T189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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