ClinVar for MedGen (Select 461191) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374738	NM_001009944.3(PKD1):c.1830C>G (p.Tyr610Ter)	PKD1 (Y610*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3374712	NM_001009944.3(PKD1):c.4012dup (p.Thr1338fs)	PKD1 (T1338fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3374704	NM_001009944.3(PKD1):c.71_81del (p.Gly24fs)	PKD1 (G24fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3370347	NM_001009944.3(PKD1):c.2985+3del	PKD1	Deletion (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3370323	NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)	PKD1 (V2122E)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3367122	NM_001009944.3(PKD1):c.4670G>T (p.Arg1557Leu)	PKD1 (R1557L)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3367002	NM_001009944.3(PKD1):c.7864-3_7896del	PKD1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3367001	NM_001009944.3(PKD1):c.1620_1621del (p.Ala541fs)	PKD1 (A541fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3366630	NC_000016.9:g.(2160720_2160721)_(2164927_2165378)del	PKD1	Deletion	Polycystic kidney disease, adult type	GPathogenic
Select item 3366483	NC_000016.9:g.(?_2138708)_(2150568_2152061)del	MIR1225, PKD1 +1 more	Deletion	Polycystic kidney disease, adult type	GPathogenic
Select item 3362764	NM_001009944.3(PKD1):c.9148G>A (p.Ala3050Thr)	PKD1 (A3050T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3362697	NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)	PKD1 (V529I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3362662	NM_001009944.3(PKD1):c.4049C>A (p.Thr1350Lys)	PKD1 (T1350K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3362522	NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)	PKD1 (W1752*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3362499	NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)	PKD1 (W1839*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3359043	NM_001009944.3:c.(9201+1_9398-1)_(10050+1_10051-1)del	PKD1	Deletion	Polycystic kidney disease, adult type	GUncertain significance
Select item 3359024	NM_001009944.3(PKD1):c.9530dup (p.Gly3177_Ser3178insTer)	PKD1	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3342293	NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)	PKD1 (Y2114H)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3342288	NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)	PKD1 (W18R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3342269	NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)	PKD1 (V49G)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3342264	NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)	PKD1 (A1041fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3342252	NM_001009944.3(PKD1):c.899_914del (p.Val300fs)	PKD1 (V300fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3341427	NM_001009944.3(PKD1):c.6185A>G (p.Gln2062Arg)	PKD1 (Q2062R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3341087	NM_001009944.3(PKD1):c.1606+5G>T	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3340486	NM_001009944.3(PKD1):c.11693_11702dup (p.Leu3902fs)	MIR1225, PKD1 +2 more (L3901fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338630	NM_001009944.3(PKD1):c.12178dup (p.Gln4060fs)	PKD1 (Q4059fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338586	NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)	PKD1 (W762*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3338413	NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)	PKD1 (V1611F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338408	NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)	PKD1 (H719R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338404	NM_001009944.3(PKD1):c.3294_3295+5del	PKD1	Deletion (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338401	NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)	PKD1 (F3258fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338380	NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338379	NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)	PKD1 (D3166fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338377	NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)	PKD1	Single nucleotide variant (stop lost)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338374	NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)	PKD1 (Q3198P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3335929	NM_001009944.3(PKD1):c.11412-2A>G	MIR1225, PKD1 +2 more	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3335888	NM_001009944.3(PKD1):c.8842_8843del (p.Ser2948fs)	PKD1 (S2948fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335887	NM_001009944.3(PKD1):c.8152_8156del (p.Asn2718fs)	PKD1 (N2718fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335886	NM_001009944.3(PKD1):c.1442_1445dup (p.Gln483fs)	PKD1 (Q483fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335885	NM_001009944.3(PKD1):c.7485C>A (p.Cys2495Ter)	PKD1 (C2495*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335884	NM_001009944.3(PKD1):c.8158dup (p.Thr2720fs)	PKD1 (T2720fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335883	NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)	PKD1, PKD1-AS1 (L3862fs +1 more)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335882	NM_001009944.3(PKD1):c.6549_6550del (p.Glu2184fs)	PKD1 (E2184fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335881	NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)	PKD1, PKD1-AS1 (D3761fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335880	NM_001009944.3(PKD1):c.9964dup (p.Thr3322fs)	PKD1 (T3322fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335879	NM_001009944.3(PKD1):c.11352_11355del (p.Trp3785fs)	PKD1, PKD1-AS1 (W3784fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335878	NM_001009944.3(PKD1):c.393_394del (p.Cys131fs)	PKD1 (C131fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335877	NM_001009944.3(PKD1):c.2732_2753dup (p.Arg919fs)	PKD1 (R919fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335876	NM_001009944.3(PKD1):c.7761G>A (p.Trp2587Ter)	PKD1 (W2587*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335875	NM_001009944.3(PKD1):c.6808_6811del (p.Asp2270fs)	PKD1 (D2270fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335874	NM_001009944.3(PKD1):c.6540del (p.Tyr2181fs)	PKD1 (Y2181fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335873	NM_001009944.3(PKD1):c.10594dup (p.Gln3532fs)	PKD1-AS1, PKD1 (Q3531fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335872	NM_001009944.3(PKD1):c.1606+1G>T	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335871	NM_001009944.3(PKD1):c.6469del (p.Leu2157fs)	PKD1 (L2157fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335870	NM_001009944.3(PKD1):c.8502del (p.Phe2836fs)	PKD1 (F2836fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335869	NM_001009944.3(PKD1):c.7703+1G>A	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335868	NM_001009944.3(PKD1):c.6090del (p.Val2031fs)	PKD1 (V2031fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335867	NM_001009944.3(PKD1):c.11441_11459dup (p.Val3820_Gln3821insTer)	PKD1, PKD1-AS1	Duplication (nonsense +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335866	NM_001009944.3(PKD1):c.8792-2A>G	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335865	NM_001009944.3(PKD1):c.10405+1G>T	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335864	NM_001009944.3(PKD1):c.9924-10_9924dup	PKD1	Duplication (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335863	NM_001009944.3(PKD1):c.4220dup (p.Phe1408fs)	PKD1 (F1408fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335862	NM_001009944.3(PKD1):c.12237dup (p.Trp4080fs)	PKD1 (W4080fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335861	NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)	PKD1 (W646*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335860	NM_001009944.3(PKD1):c.3217_3218insTTCGG (p.Glu1073fs)	PKD1 (E1073fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335859	NM_001009944.3(PKD1):c.1528_1546del (p.Arg510fs)	PKD1 (R510fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335858	NM_001009944.3(PKD1):c.6261_6262del (p.Arg2088fs)	PKD1 (R2088fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335857	NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)	PKD1, PKD1-AS1 (W3785* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335856	NM_001009944.3(PKD1):c.4625_4626del (p.Val1542fs)	PKD1 (V1542fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335855	NM_001009944.3(PKD1):c.6341_6344del (p.Ser2113_Tyr2114insTer)	PKD1	Deletion (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335854	NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)	PKD1 (Q453*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335853	NM_001009944.3(PKD1):c.10260_10279delinsAGCAGGT (p.Trp3420_Pro3427delinsTer)	PKD1	Indel (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335852	NM_001009944.3(PKD1):c.7241del (p.Thr2414fs)	PKD1 (T2414fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335851	NM_001009944.3(PKD1):c.12273G>A (p.Trp4091Ter)	PKD1 (W4090* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335850	NM_001009944.3(PKD1):c.1658_1667dup (p.Leu557fs)	PKD1 (L557fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335849	NM_001009944.3(PKD1):c.8747del (p.Pro2916fs)	PKD1 (P2916fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335848	NM_001009944.3(PKD1):c.7401dup (p.Asn2468fs)	PKD1 (N2468fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335847	NM_001009944.3(PKD1):c.160_166dup (p.Leu56fs)	PKD1 (L56fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335846	NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)	PKD1, PKD1-AS1 (W3603fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335845	NM_001009944.3(PKD1):c.10524_10525insT (p.Glu3509Ter)	PKD1, PKD1-AS1 (E3508* +1 more)	Insertion (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335844	NM_001009944.3(PKD1):c.8803_8806del (p.Ser2935fs)	PKD1 (S2935fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335843	NM_001009944.3(PKD1):c.4534G>T (p.Glu1512Ter)	PKD1 (E1512*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335842	NM_001009944.3(PKD1):c.9098del (p.Leu3033fs)	PKD1 (L3033fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335841	NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)	PKD1 (Q1828*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335840	NM_001009944.3(PKD1):c.11716dup (p.Cys3906fs)	PKD1 (C3905fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335839	NM_001009944.3(PKD1):c.6804G>A (p.Trp2268Ter)	PKD1 (W2268*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335838	NM_001009944.3(PKD1):c.12252_12253del (p.Leu4085fs)	PKD1 (L4085fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335837	NM_001009944.3(PKD1):c.2401_2410dup (p.Asn804fs)	PKD1 (N804fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335836	NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)	PKD1 (S2788*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335835	NM_001009944.3(PKD1):c.11814del (p.Trp3939fs)	PKD1 (W3939fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335834	NM_001009944.3(PKD1):c.8646G>A (p.Trp2882Ter)	PKD1 (W2882*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335833	NM_001009944.3(PKD1):c.11711C>A (p.Ser3904Ter)	PKD1 (S3904* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335832	NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)	PKD1 (Q2078*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335831	NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)	PKD1 (S2475fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335830	NM_001009944.3(PKD1):c.6629_6644dup (p.Leu2216fs)	PKD1 (L2216fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335829	NM_001009944.3(PKD1):c.10012dup (p.Leu3338fs)	PKD1 (L3338fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335828	NM_001009944.3(PKD1):c.2232del (p.Ala745fs)	PKD1 (A745fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335827	NM_001009944.3(PKD1):c.1684C>T (p.Gln562Ter)	PKD1 (Q562*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335826	NM_001009944.3(PKD1):c.4896dup (p.Glu1633fs)	PKD1 (E1633fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335825	NM_001009944.3(PKD1):c.2210del (p.Gly737fs)	PKD1 (G737fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic

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