ClinVar for MedGen (Select 442699) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338388	NM_000297.4(PKD2):c.778_779dup (p.Val262fs)	PKD2 (V262fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3338385	NM_000297.4(PKD2):c.592C>T (p.Arg198Ter)	LOC129992813, PKD2 (R198*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3256862	NM_000297.4(PKD2):c.2241-1G>A	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 2	GPathogenic
Select item 3255043	NM_000297.4(PKD2):c.2534G>A (p.Arg845Gln)	PKD2 (R845Q)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3255042	NM_000297.4(PKD2):c.1242G>A (p.Trp414Ter)	PKD2 (W414*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3255041	NM_000297.4(PKD2):c.783del (p.Val262fs)	PKD2 (V262fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3255040	NM_000297.4(PKD2):c.2085_2087delinsGG (p.Ala696fs)	PKD2 (A696fs)	Indel (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3255039	NM_000297.4(PKD2):c.2528dup (p.Arg844fs)	PKD2 (R844fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3255007	NM_000297.4(PKD2):c.566G>A (p.Trp189Ter)	LOC129992813, PKD2 (W189*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3254865	NM_000297.4(PKD2):c.997A>T (p.Ile333Phe)	PKD2 (I333F)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3254864	NM_000297.4(PKD2):c.1376del (p.Pro459fs)	PKD2 (P459fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3254863	NM_000297.4(PKD2):c.652A>T (p.Lys218Ter)	PKD2 (K218*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3254862	NM_000297.4(PKD2):c.744C>G (p.Tyr248Ter)	PKD2 (Y248*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3254861	NM_000297.4(PKD2):c.1671G>C (p.Gln557His)	PKD2 (Q557H)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3254859	NM_000297.4(PKD2):c.1853_1858del (p.Val618_Phe619del)	PKD2	Deletion (inframe_deletion +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3254858	NM_000297.4(PKD2):c.772del (p.Phe257_Leu258insTer)	PKD2	Deletion (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3251683	NM_000297.4(PKD2):c.1888C>T (p.Gln630Ter)	PKD2 (Q630*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3248537	NM_000297.4(PKD2):c.210_211del (p.Ala71fs)	LOC129992813, PKD2 (A71fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3242224	NM_000297.4(PKD2):c.748_781delinsT (p.Thr250_Pro261delinsSer)	PKD2	Indel (inframe_indel +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3242054	NM_000297.4(PKD2):c.2117A>T (p.Lys706Met)	PKD2 (K706M)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3236808	NM_000297.4(PKD2):c.1027G>T (p.Glu343Ter)	PKD2 (E343*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3236267	NM_000297.4(PKD2):c.1116del (p.Asp373fs)	PKD2 (D373fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3236209	NM_000297.4(PKD2):c.1711del (p.Ile571fs)	PKD2 (I571fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3236202	NM_000297.4(PKD2):c.1217_1223del (p.Val406fs)	PKD2 (V406fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3236190	NM_000297.4(PKD2):c.1162_1180del (p.Gly388fs)	PKD2 (G388fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3236149	NM_000297.4(PKD2):c.983_984del (p.Asn328fs)	PKD2 (N328fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3236060	NM_000297.4(PKD2):c.1010T>A (p.Leu337Ter)	PKD2 (L337*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3236028	NM_000297.4(PKD2):c.1169G>C (p.Gly390Ala)	PKD2 (G390A)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3235981	NM_000297.4(PKD2):c.354del (p.Trp118fs)	LOC129992813, PKD2 (W118fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235975	NM_000297.4(PKD2):c.2532dup (p.Arg845fs)	PKD2 (R845fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235961	NM_000297.4(PKD2):c.1432A>T (p.Ile478Phe)	PKD2 (I478F)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3235228	NM_000297.4(PKD2):c.548del (p.Gln183fs)	LOC129992813, PKD2 (Q183fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235202	NM_000297.4(PKD2):c.595G>C (p.Gly199Arg)	PKD2 (G199R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3235194	NM_000297.4(PKD2):c.423_430dup (p.Tyr144fs)	LOC129992813, PKD2 (Y144fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235148	NM_000297.4(PKD2):c.325G>T (p.Gly109Ter)	LOC129992813, PKD2 (G109*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3234092	NM_000297.4(PKD2):c.2457_2481del (p.Asp819fs)	PKD2 (D819fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3234085	NM_000297.4(PKD2):c.695_696del (p.Ile232fs)	PKD2 (I232fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3068410	NM_000297.4(PKD2):c.1096T>A (p.Trp366Arg)	PKD2 (W366R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3068402	NM_000297.4(PKD2):c.709+1G>C	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 3068396	NM_000297.4(PKD2):c.2062A>T (p.Lys688Ter)	PKD2 (K688*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3066387	NM_000297.4(PKD2):c.843+3A>G	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3066375	NM_000297.4(PKD2):c.1934del (p.Asn645fs)	PKD2 (N645fs)	Deletion (frameshift variant)	Polycystic kidney disease 2	GPathogenic
Select item 3066326	NM_000297.4(PKD2):c.2393_2396del (p.Arg798fs)	PKD2 (R798fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3066226	NM_000297.4(PKD2):c.1704del (p.Phe568fs)	PKD2 (F568fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3066128	NM_000297.4(PKD2):c.1395T>A (p.Tyr465Ter)	PKD2 (Y465*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3064871	NM_000297.4(PKD2):c.2118+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3064869	NM_000297.4(PKD2):c.2118+1G>T	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3062310	NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)	PKD2 (K784fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3061900	NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)	LOC129992813, PKD2	Duplication (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3024183	NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)	PKD2 (C344L)	Indel (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2826111	NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)	PKD2 (A615T)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 2691268	NM_000297.4(PKD2):c.1645dup (p.Glu549fs)	PKD2 (E549fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 2683951	NM_000297.4(PKD2):c.316del (p.Glu106fs)	LOC129992813, PKD2 (E106fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2683948	NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)	PKD2 (F598fs)	Indel (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2664070	NM_000297.4(PKD2):c.2358+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 2582760	NM_000297.4(PKD2):c.1904C>G (p.Thr635Ser)	PKD2 (T635S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 2581162	NM_000297.4(PKD2):c.1185G>C (p.Leu395Phe)	PKD2 (L395F)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2577454	NM_000297.4(PKD2):c.2814del (p.Gln938fs)	PKD2 (Q938fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2577414	NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter)	PKD2 (Y684*)	Duplication (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2575893	NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)	PKD2 (S377R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2506492	NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)	PKD2	Duplication (inframe_insertion +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 2506174	NM_000297.4(PKD2):c.596-12_599del	PKD2	Deletion (splice acceptor variant)	Polycystic kidney disease 2	GPathogenic
Select item 2502825	NM_000297.4(PKD2):c.2014C>G (p.Leu672Val)	PKD2 (L672V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 2445831	NM_000297.4(PKD2):c.1095-1G>T	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 2444048	NM_000297.4(PKD2):c.1026del (p.Glu343fs)	PKD2 (E343fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 2434877	NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)	PKD2 (D815G)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2434876	NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal)	PKD2	Deletion (inframe_indel +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2431601	NM_000297.4(PKD2):c.2178dup (p.Glu727fs)	PKD2 (E727fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 2086126	NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)	LOC129992813, PKD2 (S129W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2010145	NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)	PKD2 (Q622*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1878240	NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del	PKD2	Deletion	Polycystic kidney disease 2	GLikely pathogenic
Select item 1806275	NM_000297.4(PKD2):c.2522+1G>T	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 1805493	NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)	PKD2 (A303G)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GUncertain significance
Select item 1805173	NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)	PKD2 (L597R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 1804994	NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)	PKD2 (R827del)	Deletion (inframe_deletion +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 1710374	NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)	PKD2 (Y684fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1705707	NM_000297.4(PKD2):c.690del (p.Leu231fs)	PKD2 (L231fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 1705606	NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)	PKD2 (S701*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 1699920	NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter)	PKD2 (Y684*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 1699919	NM_000297.4(PKD2):c.1094+1del	PKD2	Deletion (splice donor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 1699918	NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer)	PKD2	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 1699915	NC_000004.12:g.(?_88928831)_(88996847_?)del	FAM13A, PKD2	Deletion	Polycystic kidney disease 2	GPathogenic
Select item 1699910	NM_000297.4(PKD2):c.2517del (p.Gln840fs)	PKD2 (Q840fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 1699622	NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter)	PKD2 (R654*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 2 +2 more	GPathogenic
Select item 1699258	NM_000297.4(PKD2):c.1197del (p.Glu400fs)	PKD2 (E400fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 1582089	NM_000297.4(PKD2):c.1092C>T (p.Thr364=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign
Select item 1568424	NM_000297.4(PKD2):c.1617G>A (p.Leu539=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GLikely benign
Select item 1540042	NM_000297.4(PKD2):c.2118+19C>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GLikely benign
Select item 1525846	NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys)	PKD2 (R910C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1512925	NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe)	PKD2 (I925F)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 1511136	NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn)	PKD2 (D919N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1506561	NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys)	PKD2 (E772K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GUncertain significance
Select item 1494209	NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp)	PKD2 (L656W)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 1479551	NM_000297.4(PKD2):c.235C>T (p.Leu79Phe)	LOC129992813, PKD2 (L79F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1461086	NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys)	PKD2 (Y465C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GUncertain significance
Select item 1458862	NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)	PKD2 (E214*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 1447608	NM_000297.4(PKD2):c.251G>A (p.Arg84Gln)	LOC129992813, PKD2 (R84Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1413894	NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)	PKD2 (Q456*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 1409191	NM_000297.4(PKD2):c.2428G>A (p.Asp810Asn)	PKD2 (D810N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1406344	NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr)	PKD2 (I644T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2 +1 more	GUncertain significance

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