PKD2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300507	NC_000004.12:g.88007383G>C	PKD2	Single nucleotide variant	not provided	GLikely benign
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 838483	NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)	PKD2 (G199S)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 1072849	NM_000297.4(PKD2):c.595+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 811939	NM_000297.4(PKD2):c.595+1G>C	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 1068903	NM_000297.4(PKD2):c.595+2T>C	PKD2	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 2753634	NM_000297.4(PKD2):c.595+3A>G	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 635504	NM_000297.4(PKD2):c.595+3A>T	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 2152539	NM_000297.4(PKD2):c.595+11G>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2696248	NM_000297.4(PKD2):c.595+13G>A	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 440151	NM_000297.4(PKD2):c.595+15C>T	PKD2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3015186	NM_000297.4(PKD2):c.595+16C>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1223009	NM_000297.4(PKD2):c.595+207T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189726	NM_000297.4(PKD2):c.596-281C>T	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220161	NM_000297.4(PKD2):c.596-116dup	PKD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1235231	NM_000297.4(PKD2):c.596-116del	PKD2	Deletion (intron variant)	not provided	GBenign
Select item 1241510	NM_000297.4(PKD2):c.596-87T>A	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572945	NM_000297.4(PKD2):c.596-59A>G	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 255796	NM_000297.4(PKD2):c.596-16C>T	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +3 more	GBenign
Select item 2506174	NM_000297.4(PKD2):c.596-12_599del	PKD2	Deletion (splice acceptor variant)	Polycystic kidney disease 2	GPathogenic
Select item 3336193	NM_000297.4(PKD2):c.596-3A>G	PKD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 586315	NM_000297.4(PKD2):c.596-1G>T	PKD2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1255694	NM_000297.4(PKD2):c.605del (p.Gly202fs)	PKD2 (G202fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 873375	NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)	PKD2 (W201*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 448038	NM_000297.4(PKD2):c.603G>A (p.Trp201Ter)	PKD2 (W201*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3213673	NM_000297.4(PKD2):c.605G>A (p.Gly202Glu)	PKD2 (G202E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193658	NM_000297.4(PKD2):c.608C>G (p.Thr203Arg)	PKD2 (T203R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2167528	NM_000297.4(PKD2):c.608C>T (p.Thr203Ile)	PKD2 (T203I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 423763	NM_000297.4(PKD2):c.614T>A (p.Leu205His)	PKD2 (L205H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2083740	NM_000297.4(PKD2):c.617T>C (p.Met206Thr)	PKD2 (M206T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1255555	NM_000297.4(PKD2):c.620A>G (p.Glu207Gly)	PKD2 (E207G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 746213	NM_000297.4(PKD2):c.621G>A (p.Glu207=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 997401	NM_000297.4(PKD2):c.642_643dup (p.Lys215fs)	PKD2 (K215fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 543947	NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	PKD2 (R213*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic
Select item 2894632	NM_000297.4(PKD2):c.638G>A (p.Arg213Gln)	PKD2 (R213Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1458862	NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)	PKD2 (E214*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2040469	NM_000297.4(PKD2):c.646T>A (p.Tyr216Asn)	PKD2 (Y216N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
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 811885	NM_000297.4(PKD2):c.654_655del (p.Ser219fs)	PKD2 (S219fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2745107	NM_000297.4(PKD2):c.655A>C (p.Ser219Arg)	PKD2 (S219R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2103554	NM_000297.4(PKD2):c.655_661del (p.Ser219fs)	PKD2 (S219fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1906411	NM_000297.4(PKD2):c.655A>G (p.Ser219Gly)	PKD2 (S219G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 997106	NM_000297.4(PKD2):c.662del (p.Leu221fs)	PKD2 (L221fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 434013	NM_000297.4(PKD2):c.670del (p.Leu224fs)	PKD2 (L224fs)	Deletion (frameshift variant +1 more)	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 2662709	NM_000297.4(PKD2):c.681C>A (p.Tyr227Ter)	PKD2 (Y227*)	Single nucleotide variant (nonsense +1 more)	not provided	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 397597	NM_000297.4(PKD2):c.691dup (p.Leu231fs)	PKD2 (L231fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 13520	NM_000297.4(PKD2):c.693dup (p.Ile232fs)	PKD2 (I232fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 829966	NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)	PKD2	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
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 2198597	NM_000297.4(PKD2):c.696A>C (p.Ile232=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1029780	NM_000297.4(PKD2):c.697G>A (p.Val233Ile)	PKD2 (V233I)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2195138	NM_000297.4(PKD2):c.699C>T (p.Val233=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GBenign
Select item 2154841	NM_000297.4(PKD2):c.705C>T (p.Cys235=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
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 972824	NM_000297.4(PKD2):c.709+1G>T	PKD2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 92797	NM_000297.4(PKD2):c.709+1G>A	PKD2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3346745	NM_000297.4(PKD2):c.709+4A>T	PKD2	Single nucleotide variant (intron variant)	PKD2-related disorder	GUncertain significance
Select item 972867	NM_000297.4(PKD2):c.709+6T>G	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2177138	NM_000297.4(PKD2):c.709+9A>C	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1593110	NM_000297.4(PKD2):c.709+17C>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1218016	NM_000297.4(PKD2):c.709+300G>T	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654936	NM_000297.4(PKD2):c.710-4539T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810912	NM_000297.4(PKD2):c.710-29G>A	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +1 more	GBenign/Likely benign
Select item 1613169	NM_000297.4(PKD2):c.710-11C>A	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2579852	NM_000297.4(PKD2):c.710-10T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 997245	NM_000297.4(PKD2):c.710-10T>G	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 2178793	NM_000297.4(PKD2):c.710-7G>A	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 636619	NM_000297.4(PKD2):c.710-6T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 997336	NM_000297.4(PKD2):c.710-3C>G	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease	GUncertain significance
Select item 1285124	NM_000297.4(PKD2):c.710-2A>G	PKD2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1255534	NM_000297.4(PKD2):c.710-1G>A	PKD2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 997268	NM_000297.4(PKD2):c.711G>C (p.Leu237Phe)	PKD2 (L237F)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 1713649	NM_000297.4(PKD2):c.713C>T (p.Thr238Ile)	PKD2 (T238I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1614832	NM_000297.4(PKD2):c.717C>T (p.Tyr239=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 636657	NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)	PKD2 (Y239*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 2193727	NM_000297.4(PKD2):c.718G>A (p.Gly240Ser)	PKD2 (G240S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2179471	NM_000297.4(PKD2):c.721A>G (p.Met241Val)	PKD2 (M241V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1045997	NM_000297.4(PKD2):c.724A>G (p.Met242Val)	PKD2 (M242V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 3306939	NM_000297.4(PKD2):c.728G>A (p.Ser243Asn)	PKD2 (S243N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 994727	NM_000297.4(PKD2):c.733A>C (p.Asn245His)	PKD2 (N245H)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 2706214	NM_000297.4(PKD2):c.735T>G (p.Asn245Lys)	PKD2 (N245K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 350019	NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys)	PKD2 (Y247C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 811568	NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)	PKD2 (Y247*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 2906165	NM_000297.4(PKD2):c.743A>G (p.Tyr248Cys)	PKD2 (Y248C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
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 873389	NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter)	PKD2 (Y248*)	Single nucleotide variant (nonsense +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 440148	NM_000297.4(PKD2):c.749C>G (p.Thr250Ser)	PKD2 (T250S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2883114	NM_000297.4(PKD2):c.750C>T (p.Thr250=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2963653	NM_000297.4(PKD2):c.751C>T (p.Arg251Trp)	PKD2 (R251W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
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 967129	NM_000297.4(PKD2):c.752G>A (p.Arg251Gln)	PKD2 (R251Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1896140	NM_000297.4(PKD2):c.764A>C (p.Gln255Pro)	PKD2 (Q255P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	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 1172839	NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)	PKD2 (L258P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1355746	NM_000297.4(PKD2):c.776A>C (p.Asp259Ala)	PKD2 (D259A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1256458	NM_000297.4(PKD2):c.783dup (p.Val262fs)	PKD2 (V262fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic/Likely pathogenic

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