C3149841[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586251	NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)	PKD1 (N4295K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994714	NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +1 more	GLikely benign
Select item 447966	NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)	PKD1 (R4275Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GUncertain significance
Select item 618821	NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)	PKD1 (R4275W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 811062	NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 447964	NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)	PKD1 (G4256R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 434010	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1 (Q4238* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 8198	NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	PKD1 (R4227* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 256921	NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 805147	NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	PKD1 (R4149C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256919	NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)	PKD1 (V4146I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 256918	NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 256917	NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 256915	NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val)	PKD1 (A4059V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 256914	NM_001009944.3(PKD1):c.12139-5C>T	PKD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 440084	NM_001009944.3(PKD1):c.12138+22del	PKD1	Deletion (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign
Select item 256913	NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val)	PKD1 (I4045V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 8196	NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	PKD1 (Q4041* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 994708	NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)	PKD1 (T4029I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 447961	NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)	PKD1 (Q4010* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 256912	NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 256911	NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 447960	NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)	PKD1 (A3985V +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 447959	NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)	PKD1 (Q3981* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 256909	NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 805143	NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 256908	NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 1256435	NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)	PKD1, PKD1-AS1 (R3891H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1687355	NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)	PKD1, PKD1-AS1 (F3887fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 256907	NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 256903	NM_001009944.3(PKD1):c.11537+3_11537+5dup	PKD1-AS1, PKD1	Duplication	not specified +2 more	GBenign/Likely benign
Select item 805142	NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)	PKD1, PKD1-AS1 (W3842* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 256902	NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 447952	NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)	PKD1, PKD1-AS1 (G3817D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447951	NM_001009944.3(PKD1):c.11412-2A>C	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 994703	NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 256901	NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 873379	NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)	PKD1, PKD1-AS1 (Y3780* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 256899	NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 447949	NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	PKD1, PKD1-AS1 (W3725R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 447948	NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)	PKD1, PKD1-AS1 (W3723C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 805137	NM_001009944.3(PKD1):c.11017-10C>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 805136	NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp)	PKD1, PKD1-AS1 (R3671W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 256894	NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 521541	NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)	PKD1, PKD1-AS1 (V3583fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 586240	NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 256893	NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val)	PKD1, PKD1-AS1 (A3512V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 805135	NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile)	PKD1 (L3476I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 256890	NM_001009944.3(PKD1):c.10406-4C>T	PKD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 805134	NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)	PKD1 (S3465L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 994663	NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1256432	NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)	PKD1 (W3419* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 811137	NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)	PKD1 (P3411S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 586238	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Deletion (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1256431	NM_001009944.3(PKD1):c.10161C>T (p.His3387=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +1 more	GLikely benign
Select item 433998	NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +1 more	GBenign
Select item 447944	NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 447943	NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)	PKD1 (R3348Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GUncertain significance
Select item 994661	NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)	PKD1 (V3336I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805197	NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)	PKD1 (V3297M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 873402	NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	PKD1 (L3287del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805195	NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)	PKD1 (R3274C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 586309	NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 257044	NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 805194	NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)	PKD1 (H3174P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 440135	NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)	PKD1 (I3167F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 586308	NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)	PKD1 (R3152W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GUncertain significance
Select item 994719	NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)	PKD1 (V3138L)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 448027	NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	PKD1 (T3135M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257042	NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 993683	NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp)	PKD1 (R3105W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 562246	NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)	PKD1 (A3082fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 805190	NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 994679	NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 586305	NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)	PKD1 (Y2991*)	Duplication (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 257036	NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 994677	NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 257031	NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 257030	NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp)	PKD1 (E2966D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 599089	NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)	PKD1 (S2958*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 638007	NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)	PKD1 (G2919fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 257028	NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)	PKD1 (V2905I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 441260	NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)	PKD1 (Q2902*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 562271	NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)	PKD1 (Q2900*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 803162	NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])	PKD1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257026	NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 423287	NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His)	PKD1 (R2888H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257025	NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg)	PKD1 (W2882R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 586304	NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 438716	NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr)	PKD1 (A2871T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257020	NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 994675	NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys)	PKD1 (E2810K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 448017	NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)	PKD1 (P2790L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 257018	NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 994674	NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)	PKD1 (N2770fs)	Indel (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 431938	NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)	PKD1 (V2768M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 1256450	NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His)	PKD1 (R2767H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 183257	NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	PKD1 (R2765C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GConflicting classifications of pathogenicity

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