"Juno Genomics, Hangzhou Juno Genomics, Inc"[submitter] AND "PKD1"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 974402	NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)	PKD1 (Q4124* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335851	NM_001009944.3(PKD1):c.12273G>A (p.Trp4091Ter)	PKD1 (W4090* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 2506952	NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)	PKD1 (L4089fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
Select item 3335838	NM_001009944.3(PKD1):c.12252_12253del (p.Leu4085fs)	PKD1 (L4085fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335862	NM_001009944.3(PKD1):c.12237dup (p.Trp4080fs)	PKD1 (W4080fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2572645	NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)	PKD1 (S4071fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
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 636627	NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	PKD1 (R4021* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 434006	NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	PKD1 (Q4004* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 3335835	NM_001009944.3(PKD1):c.11814del (p.Trp3939fs)	PKD1 (W3939fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335840	NM_001009944.3(PKD1):c.11716dup (p.Cys3906fs)	PKD1 (C3905fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335833	NM_001009944.3(PKD1):c.11711C>A (p.Ser3904Ter)	PKD1 (S3904* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335883	NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)	PKD1, PKD1-AS1 (L3862fs +1 more)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335867	NM_001009944.3(PKD1):c.11441_11459dup (p.Val3820_Gln3821insTer)	PKD1, PKD1-AS1	Duplication (nonsense +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 562287	NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	PKD1, PKD1-AS1 (T3793fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 3335879	NM_001009944.3(PKD1):c.11352_11355del (p.Trp3785fs)	PKD1, PKD1-AS1 (W3784fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335857	NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)	PKD1, PKD1-AS1 (W3785* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 488405	NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)	PKD1, PKD1-AS1 (A3772fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335881	NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)	PKD1, PKD1-AS1 (D3761fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1255683	NM_001009944.3(PKD1):c.11270-1G>A	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
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 3037303	NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)	PKD1, PKD1-AS1 (L3655fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335846	NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)	PKD1, PKD1-AS1 (W3603fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2632584	NM_001009944.3(PKD1):c.10619-2A>G	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	PKD1-related disorder +1 more	GPathogenic
Select item 3335873	NM_001009944.3(PKD1):c.10594dup (p.Gln3532fs)	PKD1-AS1, PKD1 (Q3531fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1077162	NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)	PKD1, PKD1-AS1 (E3508fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 3335845	NM_001009944.3(PKD1):c.10524_10525insT (p.Glu3509Ter)	PKD1, PKD1-AS1 (E3508* +1 more)	Insertion (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1179066	NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)	PKD1, PKD1-AS1 (E3505fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335865	NM_001009944.3(PKD1):c.10405+1G>T	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335853	NM_001009944.3(PKD1):c.10260_10279delinsAGCAGGT (p.Trp3420_Pro3427delinsTer)	PKD1	Indel (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335829	NM_001009944.3(PKD1):c.10012dup (p.Leu3338fs)	PKD1 (L3338fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335880	NM_001009944.3(PKD1):c.9964dup (p.Thr3322fs)	PKD1 (T3322fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335864	NM_001009944.3(PKD1):c.9924-10_9924dup	PKD1	Duplication (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 562331	NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)	PKD1 (S3305fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
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 2328900	NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)	PKD1 (Q3114*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 3335842	NM_001009944.3(PKD1):c.9098del (p.Leu3033fs)	PKD1 (L3033fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335888	NM_001009944.3(PKD1):c.8842_8843del (p.Ser2948fs)	PKD1 (S2948fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335844	NM_001009944.3(PKD1):c.8803_8806del (p.Ser2935fs)	PKD1 (S2935fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335866	NM_001009944.3(PKD1):c.8792-2A>G	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335849	NM_001009944.3(PKD1):c.8747del (p.Pro2916fs)	PKD1 (P2916fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335834	NM_001009944.3(PKD1):c.8646G>A (p.Trp2882Ter)	PKD1 (W2882*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335870	NM_001009944.3(PKD1):c.8502del (p.Phe2836fs)	PKD1 (F2836fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2619414	NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)	PKD1 (E2810*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 3335836	NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)	PKD1 (S2788*)	Single nucleotide variant (nonsense)	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 3335819	NM_001009944.3(PKD1):c.8290_8293dup (p.Arg2765fs)	PKD1 (R2765fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335821	NM_001009944.3(PKD1):c.8201del (p.Pro2734fs)	PKD1 (P2734fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335884	NM_001009944.3(PKD1):c.8158dup (p.Thr2720fs)	PKD1 (T2720fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335887	NM_001009944.3(PKD1):c.8152_8156del (p.Asn2718fs)	PKD1 (N2718fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 873361	NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)	PKD1 (Q2670*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335876	NM_001009944.3(PKD1):c.7761G>A (p.Trp2587Ter)	PKD1 (W2587*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335869	NM_001009944.3(PKD1):c.7703+1G>A	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335885	NM_001009944.3(PKD1):c.7485C>A (p.Cys2495Ter)	PKD1 (C2495*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335831	NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)	PKD1 (S2475fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335848	NM_001009944.3(PKD1):c.7401dup (p.Asn2468fs)	PKD1 (N2468fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 562262	NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	PKD1 (R2430*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3335852	NM_001009944.3(PKD1):c.7241del (p.Thr2414fs)	PKD1 (T2414fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 447999	NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)	PKD1 (Q2376*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 433976	NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)	PKD1 (V2334fs)	Microsatellite (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
Select item 972870	NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)	PKD1 (A2332fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 3335875	NM_001009944.3(PKD1):c.6808_6811del (p.Asp2270fs)	PKD1 (D2270fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335839	NM_001009944.3(PKD1):c.6804G>A (p.Trp2268Ter)	PKD1 (W2268*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 2499381	NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)	PKD1 (E2254fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 618317	NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)	PKD1 (Q2246*)	Single nucleotide variant (nonsense)	PKD1-related disorder +2 more	GPathogenic
Select item 1335200	NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)	PKD1 (S2244fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 586288	NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)	PKD1 (Q2243fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 3335830	NM_001009944.3(PKD1):c.6629_6644dup (p.Leu2216fs)	PKD1 (L2216fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 440136	NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)	PKD1 (C2195fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 997154	NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)	PKD1 (T2192fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3335882	NM_001009944.3(PKD1):c.6549_6550del (p.Glu2184fs)	PKD1 (E2184fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 451918	NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)	PKD1 (E2184*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 3335874	NM_001009944.3(PKD1):c.6540del (p.Tyr2181fs)	PKD1 (Y2181fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335871	NM_001009944.3(PKD1):c.6469del (p.Leu2157fs)	PKD1 (L2157fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 873330	NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)	PKD1 (Q2123*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335855	NM_001009944.3(PKD1):c.6341_6344del (p.Ser2113_Tyr2114insTer)	PKD1	Deletion (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335858	NM_001009944.3(PKD1):c.6261_6262del (p.Arg2088fs)	PKD1 (R2088fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335832	NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)	PKD1 (Q2078*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 433970	NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)	PKD1 (Q2067*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3335868	NM_001009944.3(PKD1):c.6090del (p.Val2031fs)	PKD1 (V2031fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 8207	NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)	PKD1 (Q1922*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335820	NM_001009944.3(PKD1):c.5644_5645del (p.Thr1882fs)	PKD1 (T1882fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2429377	NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)	PKD1 (W1839*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335841	NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)	PKD1 (Q1828*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 447985	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1 (R1672fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 3335826	NM_001009944.3(PKD1):c.4896dup (p.Glu1633fs)	PKD1 (E1633fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335856	NM_001009944.3(PKD1):c.4625_4626del (p.Val1542fs)	PKD1 (V1542fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335843	NM_001009944.3(PKD1):c.4534G>T (p.Glu1512Ter)	PKD1 (E1512*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335863	NM_001009944.3(PKD1):c.4220dup (p.Phe1408fs)	PKD1 (F1408fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 374102	NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)	PKD1 (Q1174*)	Single nucleotide variant (nonsense)	Polycystic kidney disease +4 more	GPathogenic
Select item 873333	NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)	PKD1 (Q1117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3335860	NM_001009944.3(PKD1):c.3217_3218insTTCGG (p.Glu1073fs)	PKD1 (E1073fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335877	NM_001009944.3(PKD1):c.2732_2753dup (p.Arg919fs)	PKD1 (R919fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335823	NM_001009944.3(PKD1):c.2684C>G (p.Ser895Ter)	PKD1 (S895*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 974444	NM_001009944.3(PKD1):c.2659del (p.Trp887fs)	PKD1 (W887fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 636861	NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)	PKD1 (V873fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 8206	NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	PKD1 (L845S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 3335837	NM_001009944.3(PKD1):c.2401_2410dup (p.Asn804fs)	PKD1 (N804fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335828	NM_001009944.3(PKD1):c.2232del (p.Ala745fs)	PKD1 (A745fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic

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