"Ambry Genetics"[submitter] AND "PKD2"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1058615	NM_000297.4(PKD2):c.19G>A (p.Val7Met)	LOC129992813, PKD2 (V7M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1977823	NM_000297.4(PKD2):c.64C>A (p.Arg22Ser)	LOC129992813, PKD2 (R22S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1896163	NM_000297.4(PKD2):c.82C>T (p.Arg28Trp)	LOC129992813, PKD2 (R28W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1036884	NM_000297.4(PKD2):c.103_104delinsAA (p.Ala35Asn)	LOC129992813, PKD2 (A35N)	Indel (missense variant +1 more)	Autosomal dominant polycystic kidney disease +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)	Autosomal dominant polycystic kidney disease +2 more	GUncertain significance
Select item 873388	NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)	LOC129992813, PKD2 (P67fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 2564735	NM_000297.4(PKD2):c.218C>T (p.Ala73Val)	LOC129992813, PKD2 (A73V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306940	NM_000297.4(PKD2):c.226T>C (p.Ser76Pro)	LOC129992813, PKD2 (S76P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2170873	NM_000297.4(PKD2):c.233C>T (p.Pro78Leu)	LOC129992813, PKD2 (P78L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151867	NM_000297.4(PKD2):c.274C>T (p.Pro92Ser)	LOC129992813, PKD2 (P92S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2465688	NM_000297.4(PKD2):c.289G>A (p.Glu97Lys)	LOC129992813, PKD2 (E97K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2086126	NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)	LOC129992813, PKD2 (S129W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 350016	NM_000297.4(PKD2):c.403G>A (p.Gly135Ser)	LOC129992813, PKD2 (G135S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3213672	NM_000297.4(PKD2):c.427_595+78del	LOC129992813, LOC129992814 +1 more	Deletion (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1510272	NM_000297.4(PKD2):c.433C>T (p.His145Tyr)	LOC129992813, PKD2 (H145Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2365216	NM_000297.4(PKD2):c.487C>A (p.Pro163Thr)	LOC129992813, PKD2 (P163T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534436	NM_000297.4(PKD2):c.490T>A (p.Cys164Ser)	LOC129992813, PKD2 (C164S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534437	NM_000297.4(PKD2):c.503T>C (p.Val168Ala)	LOC129992813, PKD2 (V168A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 562301	NM_000297.4(PKD2):c.538dup (p.Leu180fs)	LOC129992813, PKD2 (L180fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2514777	NM_000297.4(PKD2):c.586G>C (p.Gly196Arg)	LOC129992813, PKD2 (G196R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 2397757	NM_000297.4(PKD2):c.868G>A (p.Gly290Arg)	PKD2 (G290R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805493	NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)	PKD2 (A303G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 +3 more	GPathogenic/Likely pathogenic
Select item 411870	NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	PKD2 (R325*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 873387	NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)	PKD2 (R325Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 618325	NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)	PKD2 (S332A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3306942	NM_000297.4(PKD2):c.1028A>G (p.Glu343Gly)	PKD2 (E343G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535896	NM_000297.4(PKD2):c.1034A>G (p.Tyr345Cys)	PKD2 (Y345C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 434014	NM_000297.4(PKD2):c.1094+3_1094+6del	PKD2	Deletion (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3213666	NM_000297.4(PKD2):c.1146C>G (p.Ile382Met)	PKD2 (I382M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1065574	NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala)	PKD2 (T385A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2910942	NM_000297.4(PKD2):c.1219G>A (p.Ala407Thr)	PKD2 (A407T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1429700	NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)	PKD2 (S408I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2554416	NM_000297.4(PKD2):c.1271T>C (p.Ile424Thr)	PKD2 (I424T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2170193	NM_000297.4(PKD2):c.1283T>G (p.Val428Gly)	PKD2 (V428G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 430967	NM_000297.4(PKD2):c.1319+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2245972	NM_000297.4(PKD2):c.1405T>G (p.Phe469Val)	PKD2 (F469V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213667	NM_000297.4(PKD2):c.1634T>C (p.Phe545Ser)	PKD2 (F545S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213668	NM_000297.4(PKD2):c.1679A>G (p.Asn560Ser)	PKD2 (N560S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 905847	NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)	PKD2 (K575R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2322638	NM_000297.4(PKD2):c.1824C>A (p.Phe608Leu)	PKD2 (F608L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 3213670	NM_000297.4(PKD2):c.2024T>C (p.Met675Thr)	PKD2 (M675T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397704	NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)	PKD2 (N681S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 13522	NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	PKD2 (N720fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GPathogenic
Select item 521113	NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln)	PKD2 (L729Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 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 2307181	NM_000297.4(PKD2):c.2341G>T (p.Asp781Tyr)	PKD2 (D781Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397734	NM_000297.4(PKD2):c.2343C>A (p.Asp781Glu)	PKD2 (D781E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2514775	NM_000297.4(PKD2):c.2393G>A (p.Arg798His)	PKD2 (R798H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1425804	NM_000297.4(PKD2):c.2399T>C (p.Met800Thr)	PKD2 (M800T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 1047932	NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln)	PKD2 (R803Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 805200	NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)	PKD2 (R807*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 3306938	NM_000297.4(PKD2):c.2474G>A (p.Arg825Lys)	PKD2 (R825K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306941	NM_000297.4(PKD2):c.2495G>C (p.Ser832Thr)	PKD2 (S832T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488274	NM_000297.4(PKD2):c.2539G>A (p.Asp847Asn)	PKD2 (D847N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1489732	NM_000297.4(PKD2):c.2560G>A (p.Gly854Ser)	PKD2 (G854S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 448036	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2 (R872*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 350030	NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln)	PKD2 (R907Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3213671	NM_000297.4(PKD2):c.2783G>C (p.Gly928Ala)	PKD2 (G928A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 65