C3149841[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806056	NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)	PKD1 (R4292Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 993934	NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)	PKD1 (Q4240* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
Select item 434010	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1 (Q4238* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 562326	NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	PKD1 (Q4231* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 1699315	NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs)	PKD1 (E4219fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806035	NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)	PKD1 (V4198fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1678551	NM_001009944.3(PKD1):c.12445-17_12445-3del	MIR1225, PKD1	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 975069	NM_001009944.3(PKD1):c.12444+1G>A	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 1805401	NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)	PKD1 (A4111P +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805872	NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)	PKD1 (T4068A +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
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 +2 more	GUncertain significance
Select item 1805440	NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)	PKD1 (R4020fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 636627	NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	PKD1 (R4021* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 523384	NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	PKD1 (W4012* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 434006	NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	PKD1 (Q4004* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1805366	NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)	PKD1	Deletion (inframe_deletion +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 975070	NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys)	PKD1 (R3987C +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1806306	NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)	PKD1 (Q3978* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806208	NM_001009944.3(PKD1):c.11713-3C>A	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 975082	NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)	PKD1, PKD1-AS1 (S3897* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 1699170	NM_001009944.3(PKD1):c.11623del (p.Ala3875fs)	PKD1, PKD1-AS1 (A3874fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806154	NM_001009944.3(PKD1):c.11538-2A>C	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 1804909	NM_001009944.3(PKD1):c.11411+5G>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 440120	NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	PKD1, PKD1-AS1 (R3752Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1800458	NM_001009944.3(PKD1):c.11017-25A>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GLikely pathogenic
Select item 1699193	NM_001009944.3(PKD1):c.11017-25A>C	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 1804968	NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)	PKD1, PKD1-AS1 (K3657R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1806303	NM_001009944.3(PKD1):c.10822-3C>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 975083	NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys)	PKD1, PKD1-AS1 (E3603K +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1805485	NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)	PKD1, PKD1-AS1 (S3594R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1324915	NM_001009944.3(PKD1):c.10748del (p.Gly3583fs)	PKD1, PKD1-AS1 (G3582fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 618307	NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)	PKD1, PKD1-AS1 (W3574* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 369676	NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)	PKD1, PKD1-AS1 (W3528* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1699199	NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs)	PKD1 (T3486fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1699349	NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)	PKD1 (S3427fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 586238	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Deletion (intron variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 1699368	NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe)	PKD1 (L3381F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1800461	NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)	PKD1 (S3373*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1699188	NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter)	PKD1 (Q3363*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1805181	NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)	PKD1 (Y3337fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806367	NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)	PKD1 (L3292fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 192320	NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	PKD1 (R3277C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 975068	NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys)	PKD1 (R3272C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1179072	NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)	PKD1 (L3229fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 426300	NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala)	PKD1 (F3212A)	Indel (missense variant)	not specified +1 more	GUncertain significance
Select item 1805310	NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)	PKD1	Deletion (inframe_deletion +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805369	NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)	PKD1 (D3187del)	Deletion (inframe_deletion +1 more)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1806190	NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)	PKD1 (D3187Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 997099	NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)	PKD1 (T3134I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805914	NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)	PKD1 (W3128*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 930406	NM_001009944.3(PKD1):c.9202-16G>A	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
Select item 1805090	NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)	PKD1 (E3035del)	Microsatellite (inframe_deletion +1 more)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1805890	NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)	PKD1 (Y3017*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806019	NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)	PKD1 (G2931S)	Single nucleotide variant (missense variant)	PKD1-related condition +1 more	GUncertain significance
Select item 1805143	NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)	PKD1 (Q2923H)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 1805005	NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)	PKD1 (G2919E)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805462	NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)	PKD1 (W2882*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1800459	NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)	PKD1 (Q2824R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 997298	NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met)	PKD1 (V2782M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1806070	NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)	PKD1 (E2780fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	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 871751	NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	PKD1 (R2767C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1526113	NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	PKD1	Duplication (inframe_insertion)	Polycystic kidney disease, adult type	GConflicting classifications of pathogenicity
Select item 183257	NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	PKD1 (R2765C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 976837	NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)	PKD1 (M2764T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 976839	NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)	PKD1 (M2760T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 1806304	NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)	PKD1 (L2759P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805372	NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)	PKD1 (T2756I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely benign
Select item 1805309	NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)	PKD1 (L2691R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 586300	NM_001009944.3(PKD1):c.8017-2_8017-1del	PKD1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 1805212	NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)	PKD1 (L2650P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 930958	NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)	PKD1 (I2646T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 871752	NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	PKD1 (R2643C)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1805151	NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)	PKD1	Deletion (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 974503	NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)	PKD1 (Q2606*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 972850	NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)	PKD1 (E2548*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 208710	NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	PKD1 (R2516C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1806194	NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)	PKD1 (R2464C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805213	NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)	PKD1 (A2461T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1805880	NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)	PKD1 (E2442K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1330251	NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met)	PKD1 (V2437M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254605	NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	PKD1 (T2424M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 975091	NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs)	PKD1 (E2380fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806192	NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)	PKD1 (S2372fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 618799	NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	PKD1 (C2370R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 1805906	NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)	PKD1 (F2338C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 972839	NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)	PKD1 (Y2336*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 803165	NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)	PKD1 (P2293L)	Single nucleotide variant (missense variant)	PKD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1699499	NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter)	PKD1 (Y2265*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1805099	NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)	PKD1 (A2171D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 503677	NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	PKD1 (F2133del)	Microsatellite (inframe_deletion)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 1699028	NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)	PKD1 (N2128D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1806287	NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)	PKD1 (F2096fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 975067	NM_001009944.3(PKD1):c.6137del (p.Leu2046fs)	PKD1 (L2046fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 447992	NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)	PKD1 (A2042T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 1805449	NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)	PKD1 (Q2039fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 997368	NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)	PKD1 (A1926fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1806271	NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)	PKD1 (R1920H)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 447985	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1 (R1672fs)	Deletion (frameshift variant)	Polycystic liver disease 1 +3 more	GPathogenic
Select item 1806297	NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)	PKD1 (Y1643fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic

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