"GeneDx"[submitter] AND "PKD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 1300507	NC_000004.12:g.88007383G>C	PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 1684060	NC_000004.12:g.88007437G>A	LOC129992813, PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 1300458	NC_000004.12:g.88007613G>A	LOC129992813, PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 350007	NM_000297.4(PKD2):c.-82G>C	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign
Select item 2078491	NM_000297.4(PKD2):c.2T>A (p.Met1Lys)	LOC129992813, PKD2 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1810101	NM_000297.4(PKD2):c.11C>A (p.Ser4Tyr)	LOC129992813, PKD2 (S4Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2574209	NM_000297.4(PKD2):c.136C>T (p.Leu46Phe)	LOC129992813, PKD2 (L46F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1435552	NM_000297.4(PKD2):c.196G>C (p.Asp66His)	LOC129992813, PKD2 (D66H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 477627	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	LOC129992813, PKD2 (A69fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 1313310	NM_000297.4(PKD2):c.256G>A (p.Ala86Thr)	LOC129992813, PKD2 (A86T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 193079	NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)	LOC129992813, PKD2	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1314508	NM_000297.4(PKD2):c.290AGG[4] (p.Glu101_Glu102del)	LOC129992813, PKD2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 350014	NM_000297.4(PKD2):c.356G>A (p.Arg119His)	LOC129992813, PKD2 (R119H)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
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 92795	NM_000297.4(PKD2):c.420G>A (p.Gly140=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 639450	NM_000297.4(PKD2):c.473del (p.Glu158fs)	LOC129992813, PKD2 (E158fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 448037	NM_000297.4(PKD2):c.514del (p.Asp172fs)	LOC129992813, PKD2 (D172fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 702927	NM_000297.4(PKD2):c.531C>T (p.His177=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92796	NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)	LOC129992813, PKD2 (A190T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 255795	NM_000297.4(PKD2):c.570G>T (p.Ala190=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely 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 1186819	NM_000297.4(PKD2):c.595+175G>A	LOC129992814, PKD2	Single nucleotide variant (intron variant)	not provided	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 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 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 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 2662709	NM_000297.4(PKD2):c.681C>A (p.Tyr227Ter)	PKD2 (Y227*)	Single nucleotide variant (nonsense +1 more)	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 1218016	NM_000297.4(PKD2):c.709+300G>T	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2579852	NM_000297.4(PKD2):c.710-10T>C	PKD2	Single nucleotide variant (intron variant)	not provided	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 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 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 2579499	NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)	PKD2 (T260N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573979	NM_000297.4(PKD2):c.832G>T (p.Asp278Tyr)	PKD2 (D278Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304582	NM_000297.4(PKD2):c.838T>C (p.Trp280Arg)	PKD2 (W280R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1486479	NM_000297.4(PKD2):c.843G>A (p.Lys281=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976810	NM_000297.4(PKD2):c.843+57T>C	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 1212853	NM_000297.4(PKD2):c.843+116A>G	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290426	NM_000297.4(PKD2):c.843+218C>A	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440143	NM_000297.4(PKD2):c.844-22G>A	PKD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3338794	NM_000297.4(PKD2):c.876C>G (p.Tyr292Ter)	PKD2 (Y292*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 220406	NM_000297.4(PKD2):c.901A>G (p.Thr301Ala)	PKD2 (T301A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2579450	NM_000297.4(PKD2):c.915C>A (p.Asn305Lys)	PKD2 (N305K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 397507	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2 (R306*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic
Select item 1179073	NM_000297.4(PKD2):c.952dup (p.Val318fs)	PKD2 (V318fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 562318	NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	PKD2 (R320*)	Single nucleotide variant (nonsense +1 more)	PKD2-related disorder +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 +3 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)	not provided +1 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 1700726	NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)	PKD2 (C331Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3372874	NM_000297.4(PKD2):c.1003del (p.Gln335fs)	PKD2 (Q335fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3368044	NM_000297.4(PKD2):c.1029G>T (p.Glu343Asp)	PKD2 (E343D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801105	NM_000297.4(PKD2):c.1043A>G (p.Tyr348Cys)	PKD2 (Y348C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 477621	NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)	PKD2 (E353K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 636770	NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	PKD2 (R361*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2506720	NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)	PKD2 (G363*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3368259	NM_000297.4(PKD2):c.1094C>T (p.Ala365Val)	PKD2 (A365V)	Single nucleotide variant (missense variant +1 more)	not provided	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 280008	NM_000297.4(PKD2):c.1094+1G>A	PKD2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 976811	NM_000297.4(PKD2):c.1094+92A>G	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 1234483	NM_000297.4(PKD2):c.1094+269G>C	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224857	NM_000297.4(PKD2):c.1094+308T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281549	NM_000297.4(PKD2):c.1094+315G>C	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294499	NM_000297.4(PKD2):c.1094+324T>A	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340688	NM_000297.4(PKD2):c.1095-5A>G	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338795	NM_000297.4(PKD2):c.1128TAG[1] (p.Ser378del)	PKD2 (S378del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 1806806	NM_000297.4(PKD2):c.1140G>A (p.Trp380Ter)	PKD2 (W380*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3340733	NM_000297.4(PKD2):c.1171T>G (p.Tyr391Asp)	PKD2 (Y391D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 562248	NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	PKD2 (R417*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 972821	NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)	PKD2 (R420G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 1305395	NM_000297.4(PKD2):c.1319+5G>A	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1207541	NM_000297.4(PKD2):c.1319+158G>A	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188652	NM_000297.4(PKD2):c.1320-196A>T	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811865	NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)	PKD2 (R440S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1807328	NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)	PKD2 (L442F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 636955	NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)	PKD2 (G450D)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 350022	NM_000297.4(PKD2):c.1354A>G (p.Ile452Val)	PKD2 (I452V)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GBenign/Likely benign
Select item 92792	NM_000297.4(PKD2):c.1359A>G (p.Pro453=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 1461086	NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys)	PKD2 (Y465C)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Autosomal dominant polycystic kidney disease +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 +1 more	GUncertain significance
Select item 562283	NM_000297.4(PKD2):c.1548+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2 +2 more	GPathogenic/Likely pathogenic
Select item 1218842	NM_000297.4(PKD2):c.1548+242T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181522	NM_000297.4(PKD2):c.1548+314dup	PKD2	Duplication (intron variant)	not provided	GBenign
Select item 1296820	NM_000297.4(PKD2):c.1548+321A>G	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268990	NM_000297.4(PKD2):c.1549-137T>C	PKD2	Single nucleotide variant (intron variant)	not provided	GBenign

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