"PreventionGenetics, part of Exact Sciences"[submitter] AND "PKD2"[gen - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029240	NM_000297.4(PKD2):c.-3G>A	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	PKD2-related disorder	GLikely benign
Select item 903899	NM_000297.4(PKD2):c.9C>T (p.Asn3=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 1344891	NM_000297.4(PKD2):c.41del (p.Asp14fs)	LOC129992813, PKD2 (D14fs)	Deletion (frameshift variant +1 more)	PKD2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 188333	NM_000297.4(PKD2):c.70C>T (p.Pro24Ser)	LOC129992813, PKD2 (P24S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 92798	NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)	LOC129992813, PKD2 (R28P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 1036884	NM_000297.4(PKD2):c.103_104delinsAA (p.Ala35Asn)	LOC129992813, PKD2 (A35N)	Indel (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 350012	NM_000297.4(PKD2):c.154C>A (p.Leu52Met)	LOC129992813, PKD2 (L52M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1061865	NM_000297.4(PKD2):c.170A>G (p.Gln57Arg)	LOC129992813, PKD2 (Q57R)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +1 more	GUncertain significance
Select item 3029471	NM_000297.4(PKD2):c.252G>A (p.Arg84=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	PKD2-related disorder	GLikely benign
Select item 2632138	NM_000297.4(PKD2):c.253C>T (p.Gln85Ter)	LOC129992813, PKD2 (Q85*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder	GPathogenic
Select item 2151867	NM_000297.4(PKD2):c.274C>T (p.Pro92Ser)	LOC129992813, PKD2 (P92S)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +1 more	GLikely benign
Select item 193079	NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)	LOC129992813, PKD2	Microsatellite (inframe_insertion +1 more)	Polycystic kidney disease 2 +4 more	GBenign/Likely benign
Select item 434012	NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)	LOC129992813, PKD2 (G121C)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 92795	NM_000297.4(PKD2):c.420G>A (p.Gly140=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +4 more	GBenign
Select item 695221	NM_000297.4(PKD2):c.441G>A (p.Ala147=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 255794	NM_000297.4(PKD2):c.444C>T (p.Gly148=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 2634404	NM_000297.4(PKD2):c.532C>T (p.Leu178Phe)	LOC129992813, PKD2 (L178F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 92796	NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)	LOC129992813, PKD2 (A190T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 255795	NM_000297.4(PKD2):c.570G>T (p.Ala190=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 2572945	NM_000297.4(PKD2):c.596-59A>G	PKD2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255796	NM_000297.4(PKD2):c.596-16C>T	PKD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3029492	NM_000297.4(PKD2):c.763C>T (p.Gln255Ter)	PKD2 (Q255*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder	GPathogenic
Select item 287394	NM_000297.4(PKD2):c.784G>A (p.Val262Met)	PKD2 (V262M)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +4 more	GConflicting classifications of pathogenicity
Select item 1486479	NM_000297.4(PKD2):c.843G>A (p.Lys281=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 2171369	NM_000297.4(PKD2):c.844-6T>A	PKD2	Single nucleotide variant (intron variant)	PKD2-related disorder +1 more	GLikely benign
Select item 907301	NM_000297.4(PKD2):c.945G>A (p.Leu315=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 562318	NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	PKD2 (R320*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 448039	NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	PKD2 (R322W)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +4 more	GPathogenic/Likely pathogenic
Select item 802079	NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)	PKD2 (R322Q)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3030713	NM_000297.4(PKD2):c.973C>G (p.Arg325Gly)	PKD2 (R325G)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder	GUncertain significance
Select item 873387	NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)	PKD2 (R325Q)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2633236	NM_000297.4(PKD2):c.1024A>G (p.Lys342Glu)	PKD2 (K342E)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder	GUncertain significance
Select item 591467	NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly)	PKD2 (D354G)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder	GUncertain significance
Select item 2852602	NM_000297.4(PKD2):c.1071C>A (p.Pro357=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GLikely benign
Select item 350021	NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr)	PKD2 (I383T)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 2786555	NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)	PKD2 (Y391C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2633297	NM_000297.4(PKD2):c.1276T>G (p.Phe426Val)	PKD2 (F426V)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder	GUncertain significance
Select item 92792	NM_000297.4(PKD2):c.1359A>G (p.Pro453=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 805198	NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)	PKD2 (W455*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder +3 more	GPathogenic
Select item 633687	NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)	PKD2 (F482V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GUncertain significance
Select item 219481	NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)	PKD2 (F482C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1391484	NM_000297.4(PKD2):c.1459T>C (p.Tyr487His)	PKD2 (Y487H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3031001	NM_000297.4(PKD2):c.1508del (p.Phe503fs)	PKD2 (F503fs)	Deletion (frameshift variant +1 more)	PKD2-related disorder	GPathogenic
Select item 3032179	NM_000297.4(PKD2):c.1548_1548+2del	PKD2	Deletion (splice donor variant)	PKD2-related disorder	GLikely pathogenic
Select item 255789	NM_000297.4(PKD2):c.1548+9G>C	PKD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 255790	NM_000297.4(PKD2):c.1549-4T>C	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 543950	NM_000297.4(PKD2):c.1617G>C (p.Leu539=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 448032	NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)	PKD2 (F558fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3031974	NM_000297.4(PKD2):c.1781C>A (p.Ala594Asp)	PKD2 (A594D)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder	GUncertain significance
Select item 255791	NM_000297.4(PKD2):c.1830G>A (p.Ala610=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 1177418	NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)	PKD2 (Q613*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic/Likely pathogenic
Select item 2010145	NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)	PKD2 (Q622*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 255792	NM_000297.4(PKD2):c.1869C>G (p.Val623=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GLikely benign
Select item 3029892	NM_000297.4(PKD2):c.1899-10A>C	PKD2	Single nucleotide variant (intron variant)	PKD2-related disorder	GLikely benign
Select item 3029449	NM_000297.4(PKD2):c.1899-4A>C	PKD2	Single nucleotide variant (intron variant)	PKD2-related disorder	GLikely benign
Select item 1160688	NM_000297.4(PKD2):c.1959T>C (p.Asn653=)	PKD2	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +1 more	GLikely benign
Select item 837907	NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)	PKD2 (T663I)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GUncertain significance
Select item 477626	NM_000297.4(PKD2):c.2019+1G>A	PKD2	Single nucleotide variant (splice donor variant)	PKD2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 3054526	NM_000297.4(PKD2):c.2118+8A>G	PKD2	Single nucleotide variant (intron variant)	PKD2-related disorder	GLikely benign
Select item 440144	NM_000297.4(PKD2):c.2159del (p.Asn720fs)	PKD2 (N720fs)	Deletion (frameshift variant +1 more)	PKD2-related disorder +3 more	GPathogenic
Select item 3033060	NM_000297.4(PKD2):c.2163C>T (p.Thr721=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	PKD2-related disorder	GLikely benign
Select item 2631256	NM_000297.4(PKD2):c.2210del (p.Asn737fs)	PKD2 (N737fs)	Deletion (frameshift variant +1 more)	PKD2-related disorder	GPathogenic
Select item 448035	NM_000297.4(PKD2):c.2286C>T (p.Tyr762=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 2874337	NM_000297.4(PKD2):c.2340C>T (p.Asp780=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 350029	NM_000297.4(PKD2):c.2388A>G (p.Leu796=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 997283	NM_000297.4(PKD2):c.2391A>C (p.Pro797=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	PKD2-related disorder +2 more	GLikely benign
Select item 618326	NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)	PKD2 (R798C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GUncertain significance
Select item 219985	NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	PKD2 (M800L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 220091	NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)	PKD2 (R807Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 2630962	NM_000297.4(PKD2):c.2435_2436del (p.Asp811_Ser812insTer)	PKD2	Microsatellite (nonsense +1 more)	PKD2-related disorder	GPathogenic
Select item 1336016	NM_000297.4(PKD2):c.2460C>T (p.Ser820=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +3 more	GBenign/Likely benign
Select item 1255684	NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)	PKD2 (Y836*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder +1 more	GPathogenic
Select item 3042242	NM_000297.4(PKD2):c.2548dup (p.Glu850fs)	PKD2 (E850fs)	Duplication (frameshift variant +1 more)	PKD2-related disorder	GPathogenic
Select item 2633018	NM_000297.4(PKD2):c.2570T>C (p.Val857Ala)	PKD2 (V857A)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder	GUncertain significance
Select item 255793	NM_000297.4(PKD2):c.2586C>T (p.Ala862=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GLikely benign
Select item 636982	NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)	PKD2 (L867P)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2721731	NM_000297.4(PKD2):c.2671-3dup	PKD2	Duplication (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 2631209	NM_000297.4(PKD2):c.2770C>T (p.Gln924Ter)	PKD2 (Q924*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder	GPathogenic
Select item 350031	NM_000297.4(PKD2):c.2814A>G (p.Gln938=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 194468	NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)	PKD2 (S949C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity

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Items: 80