C2751306[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1179063	NM_000297.4(PKD2):c.110del (p.Gly37fs)	LOC129992813, PKD2 (G37fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 659676	NM_000297.4(PKD2):c.109G>A (p.Gly37Ser)	LOC129992813, PKD2 (G37S)	Single nucleotide variant (missense variant +1 more)	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 1447608	NM_000297.4(PKD2):c.251G>A (p.Arg84Gln)	LOC129992813, PKD2 (R84Q)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +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 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 1334079	NM_000297.4(PKD2):c.485C>T (p.Pro162Leu)	LOC129992813, PKD2 (P162L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 350017	NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr)	LOC129992813, PKD2 (D172Y)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 997216	NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)	LOC129992813, PKD2 (W189*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
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 643620	NM_000297.4(PKD2):c.587G>C (p.Gly196Ala)	LOC129992813, PKD2 (G196A)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	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 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 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 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 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 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
Select item 1111461	NM_000297.4(PKD2):c.783C>T (p.Pro261=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign
Select item 374198	NM_000297.4(PKD2):c.817_818del (p.Leu273fs)	PKD2 (L273fs)	Microsatellite (frameshift variant +1 more)	Elevated systolic blood pressure +3 more	GPathogenic
Select item 997217	NM_000297.4(PKD2):c.843+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 1328405	NM_000297.4(PKD2):c.916C>G (p.Arg306Gly)	PKD2 (R306G)	Single nucleotide variant (missense variant +1 more)	Multiple renal cysts +2 more	GUncertain significance
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 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 1070067	NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)	PKD2 (E340*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 635524	NM_000297.4(PKD2):c.1047dup (p.Val350fs)	PKD2 (V350fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
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 569586	NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln)	PKD2 (R361Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GLikely benign
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 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 13517	NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)	PKD2 (W380*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 764323	NM_000297.4(PKD2):c.1146C>A (p.Ile382=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +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 907303	NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu)	PKD2 (A384E)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	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 907304	NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln)	PKD2 (R417Q)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 957537	NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser)	PKD2 (A421S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 937837	NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr)	PKD2 (A421T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
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 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 13521	NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	PKD2 (R464*)	Single nucleotide variant (nonsense +1 more)	not provided +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 974543	NM_000297.4(PKD2):c.1445del (p.Phe482fs)	PKD2 (F482fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
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 905846	NM_000297.4(PKD2):c.1573A>C (p.Asn525His)	PKD2 (N525H)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 997138	NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)	PKD2 (Q537*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 1568424	NM_000297.4(PKD2):c.1617G>A (p.Leu539=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign
Select item 543950	NM_000297.4(PKD2):c.1617G>C (p.Leu539=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +2 more	GBenign/Likely benign
Select item 1356754	NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro)	PKD2 (A552P)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 636631	NM_000297.4(PKD2):c.1668dup (p.Gln557fs)	PKD2 (Q557fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 997234	NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)	PKD2 (W570L)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 997114	NM_000297.4(PKD2):c.1716+2T>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 1153523	NM_000297.4(PKD2):c.1717-7C>T	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +1 more	GLikely benign
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 997109	NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)	PKD2 (F605del)	Microsatellite (inframe_deletion +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 1177418	NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)	PKD2 (Q613*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 448033	NM_000297.4(PKD2):c.1898+5G>A	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1059419	NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn)	PKD2 (D643N)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1494209	NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp)	PKD2 (L656W)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 837907	NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)	PKD2 (T663I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2 +2 more	GUncertain significance
Select item 477626	NM_000297.4(PKD2):c.2019+1G>A	PKD2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449307	NM_000297.4(PKD2):c.2020-1_2020del	PKD2	Deletion (splice acceptor variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 618323	NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)	PKD2 (S701fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic
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 440145	NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile)	PKD2 (L715I)	Single nucleotide variant (missense variant +1 more)	not specified +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 440144	NM_000297.4(PKD2):c.2159del (p.Asn720fs)	PKD2 (N720fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1170795	NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)	PKD2 (V722L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
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 636481	NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp)	PKD2 (R730W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1345047	NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser)	PKD2 (G734S)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 586313	NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)	PKD2 (L736S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GUncertain significance
Select item 448034	NM_000297.4(PKD2):c.2240+1G>A	PKD2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 562263	NM_000297.4(PKD2):c.2241-2A>G	PKD2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 811796	NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)	PKD2 (K748*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 562296	NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)	PKD2 (Y762*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
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 1049779	NM_000297.4(PKD2):c.2318A>G (p.His773Arg)	PKD2 (H773R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1023555	NM_000297.4(PKD2):c.2358+5G>A	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 997283	NM_000297.4(PKD2):c.2391A>C (p.Pro797=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign
Select item 618326	NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)	PKD2 (R798C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GUncertain significance
Select item 618321	NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	PKD2 (R803*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
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 220091	NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)	PKD2 (R807Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 811857	NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn)	PKD2 (D817N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1336016	NM_000297.4(PKD2):c.2460C>T (p.Ser820=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 1357246	NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro)	PKD2 (S831P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1105905	NM_000297.4(PKD2):c.2499C>T (p.Gly833=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GLikely benign
Select item 1255684	NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)	PKD2 (Y836*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 543948	NM_000297.4(PKD2):c.2523-7C>T	PKD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 586314	NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)	PKD2	Deletion (nonsense +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 523770	NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	PKD2 (R845*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 1160996	NM_000297.4(PKD2):c.2583C>T (p.Asp861=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign

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