"GeneDx"[submitter] AND "GJB1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 114

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	LOC126863270, LOC126863271 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 255410	NM_001097642.3(GJB1):c.-16-697G>A	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GBenign
Select item 1203086	NM_001097642.3(GJB1):c.-16-613C>T	GJB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 406227	NM_001097642.3(GJB1):c.-16-524C>G	GJB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429946	NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT	GJB1	Indel (intron variant)	not provided	GUncertain significance
Select item 217166	NM_000166.6(GJB1):c.-103C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 380606	NM_000166.6(GJB1):c.-101C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 384473	NM_000166.6(GJB1):c.-77G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign/Likely benign
Select item 246214	NM_000166.6(GJB1):c.-27C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 246014	NM_000166.6(GJB1):c.-17G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 380814	NM_000166.6(GJB1):c.-17+116C>T	GJB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1203066	NM_000166.6(GJB1):c.-16-82G>C	GJB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368624	NM_000166.6(GJB1):c.-6G>A	GJB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 418234	NM_000166.6(GJB1):c.14G>T (p.Gly5Val)	GJB1 (G5V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 637426	NM_000166.6(GJB1):c.30C>T (p.Leu10=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X +3 more	GBenign/Likely benign
Select item 21084	NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	GJB1 (R15W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic
Select item 217169	NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)	GJB1 (R15Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +3 more	GPathogenic
Select item 1693324	NM_000166.6(GJB1):c.47A>G (p.His16Arg)	GJB1 (H16R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447441	NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	GJB1 (R22*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 155726	NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)	GJB1 (S26L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic
Select item 246094	NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)	GJB1 (I28T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 653090	NM_000166.6(GJB1):c.99_103dup (p.Val35fs)	GJB1 (V35fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 245946	NM_000166.6(GJB1):c.112G>A (p.Val38Met)	GJB1 (V38M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic
Select item 216292	NM_000166.6(GJB1):c.113T>G (p.Val38Gly)	GJB1 (V38G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 245761	NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)	GJB1 (W44C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 430122	NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)	GJB1 (S50P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 234871	NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)	GJB1 (F51L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10446	NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)	GJB1 (T55I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 406232	NM_000166.6(GJB1):c.178T>C (p.Cys60Arg)	GJB1 (C60R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21081	NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	GJB1 (V63I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 237122	NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)	GJB1 (P70A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1061133	NM_000166.6(GJB1):c.215C>T (p.Ser72Phe)	GJB1 (S72F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21082	NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)	GJB1 (R75W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 217167	NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)	GJB1 (R75Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 246095	NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)	GJB1 (W77*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic
Select item 220932	NM_000166.6(GJB1):c.235C>T (p.Leu79=)	GJB1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 246096	NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)	GJB1 (Q80R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 234657	NM_000166.6(GJB1):c.241C>G (p.Leu81Val)	GJB1 (L81V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 637139	NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)	GJB1 (P87L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1328126	NM_000166.6(GJB1):c.268C>T (p.Leu90Phe)	GJB1 (L90F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +3 more	GConflicting classifications of pathogenicity
Select item 245724	NM_000166.6(GJB1):c.282C>A (p.His94Gln)	GJB1 (H94Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 10441	NM_000166.6(GJB1):c.283G>A (p.Val95Met)	GJB1 (V95M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 447430	NM_000166.6(GJB1):c.297A>G (p.Gln99=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 216038	NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)	GJB1 (E102G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +3 more	GPathogenic/Likely pathogenic
Select item 429329	NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)	GJB1 (K103E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 668257	NM_000166.6(GJB1):c.318A>G (p.Leu106=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GBenign/Likely benign
Select item 217168	NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)	GJB1 (R107W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1299490	NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)	GJB1 (R107Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 503687	NM_000166.6(GJB1):c.324dup (p.Glu109Ter)	GJB1 (E109*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 234611	NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)	GJB1 (K124N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 245904	NM_000166.6(GJB1):c.376C>T (p.His126Tyr)	GJB1 (H126Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 451657	NM_000166.6(GJB1):c.392T>G (p.Leu131Arg)	GJB1 (L131R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 245787	NM_000166.6(GJB1):c.396del (p.Trp132fs)	GJB1 (W132fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 449355	NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)	GJB1 (F141L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 10431	NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)	GJB1 (R142W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 188174	NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	GJB1 (R142Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 246133	NM_000166.6(GJB1):c.439G>A (p.Ala147Thr)	GJB1 (A147T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1702606	NM_000166.6(GJB1):c.448A>G (p.Met150Val)	GJB1 (M150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246097	NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter)	GJB1 (Y154*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic
Select item 10437	NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)	GJB1 (L156R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 447432	NM_000166.6(GJB1):c.478T>C (p.Tyr160His)	GJB1 (Y160H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 217170	NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)	GJB1 (R164W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 543920	NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)	GJB1 (R164Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +4 more	GPathogenic/Likely pathogenic
Select item 1209303	NM_000166.6(GJB1):c.493C>G (p.Leu165Val)	GJB1 (L165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368626	NM_000166.6(GJB1):c.507C>T (p.Asp169=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 567945	NM_000166.6(GJB1):c.524dup (p.Asn175fs)	GJB1 (N175fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic
Select item 423372	NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup)	GJB1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21085	NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)	GJB1 (C179Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 578250	NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)	GJB1 (F180L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 245705	NM_000166.6(GJB1):c.541G>A (p.Val181Met)	GJB1 (V181M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 234844	NM_000166.6(GJB1):c.542T>A (p.Val181Glu)	GJB1 (V181E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 216039	NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	GJB1 (R183C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +2 more	GPathogenic/Likely pathogenic
Select item 234612	NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)	GJB1 (E186*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 21086	NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	GJB1 (E186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 420023	NM_000166.6(GJB1):c.566T>G (p.Val189Gly)	GJB1 (V189G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 637602	NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)	GJB1 (C201Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 429210	NM_000166.6(GJB1):c.605T>A (p.Ile202Asn)	GJB1 (I202N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 422078	NM_000166.6(GJB1):c.610C>A (p.Leu204Ile)	GJB1 (L204I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 447439	NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)	GJB1 (E208K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic
Select item 422446	NM_000166.6(GJB1):c.626T>G (p.Val209Gly)	GJB1 (V209G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 620115	NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)	GJB1 (Y211*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 246098	NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	GJB1 (R215W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 219704	NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)	GJB1 (R215P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 637577	NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)	GJB1 (R219C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 543923	NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)	GJB1 (R220G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
Select item 10435	NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	GJB1 (R220*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 393124	NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)	GJB1 (R220Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 696007	NM_000166.6(GJB1):c.671G>A (p.Arg224His)	GJB1 (R224H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 157521	NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)	GJB1 (R230C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 10450	NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	GJB1 (F235C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +4 more	GConflicting classifications of pathogenicity
Select item 1326578	NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys)	GJB1 (Y243C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 155727	NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)	GJB1 (R264C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 379903	NM_000166.6(GJB1):c.*15C>T	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 368627	NM_000166.6(GJB1):c.*34C>A	GJB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 368628	NM_000166.6(GJB1):c.*117C>T	GJB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 368629	NM_000166.6(GJB1):c.*163G>T	GJB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2