C2673759[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786722	NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	GJB3 (V84I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 46085	NM_024009.3(GJB3):c.579C>T (p.Gly193=)	GJB3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GBenign/Likely benign
Select item 6493	NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	GJB3 (A194T)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1 +3 more	GBenign/Likely benign
Select item 311353	NM_004004.6(GJB2):c.*1277T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 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)	Ichthyosis, hystrix-like, with hearing loss +3 more	GBenign/Likely benign
Select item 311356	NM_004004.6(GJB2):c.*1152G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 311357	NM_004004.6(GJB2):c.*1067G>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +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 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)	not provided +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)	not provided +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)	Ichthyosis, hystrix-like, with hearing loss +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 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)	Nonsyndromic genetic hearing loss +5 more	GConflicting classifications of pathogenicity
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	not provided +10 more	GBenign
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 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 882641	NM_004004.6(GJB2):c.546G>A (p.Val182=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GLikely benign
Select item 633243	NM_004004.6(GJB2):c.510C>T (p.Asn170=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 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 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 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +10 more	GBenign/Likely benign
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 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +6 more	GConflicting classifications of pathogenicity
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GBenign/Likely benign
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Hearing impairment +11 more	GPathogenic
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
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 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Nonsyndromic genetic hearing loss +5 more	GPathogenic/Likely pathogenic
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 631697	NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	GJB2 (T86R)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	GJB2-related condition +11 more	GBenign/Likely benign
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 881103	NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)	GJB2 (D66N)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 631698	NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)	GJB2 (Y65*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 881104	NM_004004.6(GJB2):c.174A>G (p.Pro58=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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
Select item 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +5 more	GBenign
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 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 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 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44724	NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	GJB2 (G4D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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 44721	NM_004004.6(GJB2):c.-6T>A	GJB2	Single nucleotide variant (5 prime UTR variant)	GJB2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 94388	NM_004004.6(GJB2):c.-15C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +5 more	GBenign/Likely benign
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 228700	NM_004004.6(GJB2):c.-22-6T>C	GJB2	Single nucleotide variant (intron variant)	Ichthyosis, hystrix-like, with hearing loss +5 more	GConflicting classifications of pathogenicity
Select item 44717	NM_004004.6(GJB2):c.-22-12C>T	GJB2	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss +5 more	GBenign
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 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 311379	NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)	GJB6 (T227M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GUncertain significance
Select item 285401	NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GConflicting classifications of pathogenicity
Select item 45507	NM_001110219.3(GJB6):c.619G>A (p.Val207Met)	GJB6 (V207M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GUncertain significance
Select item 45504	NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)	GJB6 (S199T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GBenign/Likely benign
Select item 45503	NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GConflicting classifications of pathogenicity
Select item 881194	NM_001110219.3(GJB6):c.480G>A (p.Gly160=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GBenign/Likely benign
Select item 45502	NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)	GJB6 (N159S)	Single nucleotide variant (missense variant)	GJB6-related condition +6 more	GBenign/Likely benign
Select item 311381	NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	GJB6	Single nucleotide variant (synonymous variant)	GJB6-related condition +6 more	GConflicting classifications of pathogenicity
Select item 881195	NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GBenign/Likely benign
Select item 672304	NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn)	GJB6 (D120N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GBenign/Likely benign
Select item 188490	NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)	GJB6 (N113K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GBenign/Likely benign
Select item 881662	NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)	GJB6 (V71A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GConflicting classifications of pathogenicity
Select item 196442	NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	GJB6	Single nucleotide variant (synonymous variant)	GJB6-related condition +5 more	GConflicting classifications of pathogenicity
Select item 881663	NM_001110219.3(GJB6):c.109G>A (p.Val37Met)	GJB6 (V37M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 311382	NM_001110219.3(GJB6):c.63del (p.Lys22fs)	GJB6 (K22fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GConflicting classifications of pathogenicity
Select item 311383	NM_001110219.3(GJB6):c.60C>T (p.Ile20=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GConflicting classifications of pathogenicity
Select item 724026	NM_001110219.3(GJB6):c.30C>T (p.Ile10=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45501	NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	GJB6	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 94