"PKD1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047625	NM_001009944.3(PKD1):c.*10C>G	PKD1	Single nucleotide variant (3 prime UTR variant)	PKD1-related disorder	GLikely benign
Select item 3054230	NM_001009944.3(PKD1):c.*8T>G	PKD1	Single nucleotide variant (3 prime UTR variant)	PKD1-related disorder	GLikely benign
Select item 2634127	NM_001009944.3(PKD1):c.12899C>T (p.Pro4300Leu)	PKD1 (P4299L +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2633681	NM_001009944.3(PKD1):c.12844G>T (p.Asp4282Tyr)	PKD1 (D4281Y +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 447964	NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)	PKD1 (G4256R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GBenign/Likely benign
Select item 3061238	NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter)	PKD1 (Q4246* +1 more)	Single nucleotide variant (nonsense)	PKD1-related disorder	GPathogenic
Select item 618309	NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)	PKD1 (Q4241* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GLikely pathogenic
Select item 3055707	NM_001009944.3(PKD1):c.12714G>A (p.Gln4238=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 434010	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1 (Q4238* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 3047803	NM_001009944.3(PKD1):c.12705C>T (p.Asp4235=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 2645976	NM_001009944.3(PKD1):c.12690C>T (p.Asn4230=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2446577	NM_001009944.3(PKD1):c.12679G>T (p.Asp4227Tyr)	PKD1 (D4226Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 873339	NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)	PKD1 (Q4225* +1 more)	Single nucleotide variant (nonsense)	PKD1-related disorder +2 more	GPathogenic
Select item 3037202	NM_001009944.3(PKD1):c.12660G>A (p.Glu4220=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3030354	NM_001009944.3(PKD1):c.12642C>T (p.Arg4214=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 1706224	NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)	PKD1 (R4202fs +1 more)	Deletion (frameshift variant)	PKD1-related disorder +2 more	GPathogenic
Select item 2662415	NM_001009944.3(PKD1):c.12569C>T (p.Ser4190Phe)	PKD1 (S4189F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2630104	NM_001009944.3(PKD1):c.12517C>T (p.Pro4173Ser)	PKD1 (P4172S +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 807951	NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)	PKD1 (M4157T +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 803159	NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)	PKD1 (R4154C +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3049740	NM_001009944.3(PKD1):c.12445-18C>T	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 3036006	NM_001009944.3(PKD1):c.12445-30G>A	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 3052364	NM_001009944.3(PKD1):c.12439A>G (p.Lys4147Glu)	PKD1 (K4146E +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2637229	NM_001009944.3(PKD1):c.12418_12429del (p.Trp4140_Leu4143del)	PKD1	Deletion (inframe_deletion +1 more)	PKD1-related disorder	GUncertain significance
Select item 522529	NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val)	PKD1 (G4142V +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2634008	NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)	PKD1 (L4138F +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 3032639	NM_001009944.3(PKD1):c.12407G>C (p.Arg4136Thr)	PKD1 (R4135T +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GLikely pathogenic
Select item 2499816	NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)	PKD1 (V4129del +1 more)	Microsatellite (inframe_deletion +1 more)	PKD1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2630198	NM_001009944.3(PKD1):c.12382G>T (p.Glu4128Ter)	PKD1 (E4127* +1 more)	Single nucleotide variant (nonsense)	PKD1-related disorder	GPathogenic
Select item 3031192	NM_001009944.3(PKD1):c.12336C>T (p.Ala4112=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3042848	NM_001009944.3(PKD1):c.12313A>C (p.Ile4105Leu)	PKD1 (I4104L +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GBenign/Likely benign
Select item 3044682	NM_001009944.3(PKD1):c.12297A>G (p.Leu4099=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 997207	NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036046	NM_001009944.3(PKD1):c.12237C>G (p.Ser4079=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 618294	NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder +1 more	GLikely benign
Select item 2630673	NM_001009944.3(PKD1):c.12230C>T (p.Ala4077Val)	PKD1 (A4076V +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 997228	NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3054448	NM_001009944.3(PKD1):c.12139-7C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 2631407	NM_001009944.3(PKD1):c.12138+5G>C	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GUncertain significance
Select item 3055125	NM_001009944.3(PKD1):c.12099G>A (p.Leu4033=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 994708	NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)	PKD1 (T4029I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 618299	NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2630081	NM_001009944.3(PKD1):c.12067C>G (p.Leu4023Val)	PKD1 (L4022V +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 3047365	NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3047840	NM_001009944.3(PKD1):c.12027G>A (p.Val4009=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3044268	NM_001009944.3(PKD1):c.12024C>T (p.Phe4008=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3054226	NM_001009944.3(PKD1):c.12004-36C>G	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3031139	NM_001009944.3(PKD1):c.12003+37dup	PKD1	Duplication (intron variant)	PKD1-related disorder	GLikely benign
Select item 3030333	NM_001009944.3(PKD1):c.12003+7G>A	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3024723	NM_001009944.3(PKD1):c.11989C>T (p.Leu3997=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633969	NM_001009944.3(PKD1):c.11960C>T (p.Ala3987Val)	PKD1 (A3986V +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 447960	NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)	PKD1 (A3985V +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GConflicting classifications of pathogenicity
Select item 3038395	NM_001009944.3(PKD1):c.11883C>G (p.Arg3961=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 930339	NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp)	PKD1 (G3956D +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 3039918	NM_001009944.3(PKD1):c.11848C>T (p.Leu3950=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3054185	NM_001009944.3(PKD1):c.11814G>A (p.Arg3938=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 2631621	NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs)	PKD1 (W3935fs +1 more)	Duplication (frameshift variant)	PKD1-related disorder	GPathogenic
Select item 2634604	NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)	PKD1 (E3924* +1 more)	Single nucleotide variant (nonsense)	PKD1-related disorder	GPathogenic
Select item 2633352	NM_001009944.3(PKD1):c.11748G>A (p.Val3916=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GUncertain significance
Select item 3031879	NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs)	PKD1 (F3909fs +1 more)	Deletion (frameshift variant)	PKD1-related disorder	GPathogenic
Select item 447955	NM_001009944.3(PKD1):c.11713-2A>G	PKD1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 3042015	NM_001009944.3(PKD1):c.11713-5C>A	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3032225	NM_001009944.3(PKD1):c.11713-10C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3055201	NM_001009944.3(PKD1):c.11713-11G>A	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3042028	NM_001009944.3(PKD1):c.11713-12C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3043234	NM_001009944.3(PKD1):c.11713-16A>C	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3032192	NM_001009944.3(PKD1):c.11713-23C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3029718	NM_001009944.3(PKD1):c.11713-26_11713-25insCTCT	PKD1	Insertion (intron variant)	PKD1-related disorder	GLikely benign
Select item 3029649	NM_001009944.3(PKD1):c.11713-26C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3055211	NM_001009944.3(PKD1):c.11713-27C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 3037516	NM_001009944.3(PKD1):c.11713-63_11713-30dup	PKD1	Duplication (intron variant)	PKD1-related disorder	GBenign
Select item 3055513	NM_001009944.3(PKD1):c.11713-97_11713-30del	PKD1	Deletion (intron variant)	PKD1-related disorder	GBenign
Select item 3032343	NM_001009944.3(PKD1):c.11677C>T (p.Leu3893Phe)	PKD1, PKD1-AS1 (L3892F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GUncertain significance
Select item 2629773	NM_001009944.3(PKD1):c.11677C>G (p.Leu3893Val)	PKD1, PKD1-AS1 (L3892V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GUncertain significance
Select item 3047488	NM_001009944.3(PKD1):c.11592C>T (p.His3864=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 994704	NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2633061	NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer)	PKD1, PKD1-AS1	Deletion (non-coding transcript variant +1 more)	PKD1-related disorder	GPathogenic
Select item 1254751	NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)	PKD1, PKD1-AS1 (L3851P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 3042176	NM_001009944.3(PKD1):c.11541C>T (p.Ser3847=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 256906	NM_001009944.3(PKD1):c.11538-4G>T	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder +1 more	GLikely benign
Select item 3054822	NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 873401	NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs)	PKD1, PKD1-AS1 (Y3818fs +1 more)	Deletion (frameshift variant)	PKD1-related disorder +1 more	GPathogenic
Select item 3061316	NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)	PKD1, PKD1-AS1 (G3808D +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2630565	NM_001009944.3(PKD1):c.11425G>C (p.Gly3809Arg)	PKD1, PKD1-AS1 (G3808R +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2629028	NM_001009944.3(PKD1):c.11396C>T (p.Ala3799Val)	PKD1, PKD1-AS1 (A3798V +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 994703	NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3031590	NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)	PKD1, PKD1-AS1 (A3795fs +1 more)	Duplication (frameshift variant)	PKD1-related disorder	GPathogenic
Select item 562287	NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	PKD1, PKD1-AS1 (T3793fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 434002	NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)	PKD1, PKD1-AS1 (E3786Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2631604	NM_001009944.3(PKD1):c.11270-25_11316del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	PKD1-related disorder	GPathogenic
Select item 997301	NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)	PKD1-AS1, PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 440120	NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	PKD1, PKD1-AS1 (R3752Q +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1803270	NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)	PKD1, PKD1-AS1 (R3752G +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GLikely pathogenic
Select item 2631710	NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp)	PKD1, PKD1-AS1 (R3749W +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2632243	NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs)	PKD1, PKD1-AS1 (P3745fs +1 more)	Duplication (frameshift variant)	PKD1-related disorder	GPathogenic
Select item 3031847	NM_001009944.3(PKD1):c.11205C>G (p.Val3735=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 3046984	NM_001009944.3(PKD1):c.11139C>T (p.Ala3713=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 2631708	NM_001009944.3(PKD1):c.11099_11101dup (p.Arg3700_Leu3701insArg)	PKD1, PKD1-AS1	Duplication (non-coding transcript variant +2 more)	PKD1-related disorder	GUncertain significance
Select item 2631176	NM_001009944.3(PKD1):c.11036T>A (p.Leu3679His)	PKD1, PKD1-AS1 (L3678H +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 522396	NM_001009944.3(PKD1):c.11033del (p.Met3678fs)	PKD1, PKD1-AS1 (M3677fs +1 more)	Deletion (frameshift variant)	PKD1-related disorder	GPathogenic

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