ClinVar for MedGen (Select 461191) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075694	NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)	PKD1 (R2191C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3075684	NM_001009944.3(PKD1):c.5863_5865del (p.His1955del)	PKD1 (H1955del)	Deletion (inframe_deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068690	NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)	PKD1 (S3975I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068418	NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs)	PKD1 (Q3435fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068412	NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)	PKD1 (A3281P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068391	NM_001009944.3(PKD1):c.512T>A (p.Leu171Ter)	PKD1 (L171*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068381	NM_001009944.3(PKD1):c.9185_9188dup (p.Phe3064fs)	PKD1 (F3064fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068377	NM_001009944.3(PKD1):c.12144_12145del (p.Ser4049fs)	PKD1 (S4048fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068369	NM_001009944.3(PKD1):c.11002_11003dup (p.Gly3669fs)	PKD1, PKD1-AS1 (G3668fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068363	NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)	PKD1 (T596N)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068361	NM_001009944.3(PKD1):c.10846_10847dup (p.Leu3617fs)	PKD1, PKD1-AS1 (L3616fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068351	NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs)	PKD1 (E2635fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068344	NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)	PKD1, PKD1-AS1 (L3556R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068342	NM_001009944.3(PKD1):c.6346_6352del (p.Arg2116fs)	PKD1 (R2116fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068328	NM_001009944.3(PKD1):c.2850del (p.Leu950_Val951insTer)	PKD1	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068323	NM_001009944.3(PKD1):c.1606+2T>G	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068294	NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs)	PKD1 (R2001fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3067987	NM_001009944.3(PKD1):c.9058G>A (p.Glu3020Lys)	PKD1 (E3020K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3067897	NM_001009944.3(PKD1):c.10441dup (p.Val3481fs)	PKD1 (V3480fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3066385	NM_001009944.3(PKD1):c.2948A>G (p.Asn983Ser)	PKD1 (N983S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066374	NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)	PKD1, PKD1-AS1 (G3573R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066360	NM_001009944.3(PKD1):c.5615T>G (p.Val1872Gly)	PKD1 (V1872G)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066346	NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)	PKD1 (R4137H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066344	NM_001009944.3(PKD1):c.2966_2970del (p.Ala989fs)	PKD1 (A989fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066337	NM_001009944.3(PKD1):c.215+1G>T	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066321	NM_001009944.3(PKD1):c.11650del (p.Ser3884fs)	PKD1, PKD1-AS1 (S3883fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066307	NM_001009944.3(PKD1):c.771dup (p.Thr258fs)	PKD1 (T258fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066306	NM_001009944.3(PKD1):c.1202-10C>A	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066301	NM_001009944.3(PKD1):c.10615_10618+1del	PKD1, PKD1-AS1	Deletion (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066292	NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs)	PKD1 (Q3435fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066291	NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)	PKD1, PKD1-AS1 (R3699C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066287	NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys)	PKD1 (W2187C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066271	NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)	PKD1 (Y3017D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066270	NM_001009944.3(PKD1):c.10961_10982del (p.Leu3654fs)	PKD1, PKD1-AS1 (L3653fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066264	NM_001009944.3(PKD1):c.899dup (p.Thr301fs)	PKD1 (T301fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066262	NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser)	PKD1 (F1919S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066257	NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del)	PKD1	Deletion (inframe deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066239	NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys)	PKD1, PKD1-AS1 (E3852K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066238	NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)	PKD1 (R3269W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066235	NM_001009944.3(PKD1):c.782del (p.Gly261fs)	PKD1 (G261fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066233	NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)	PKD1, PKD1-AS1 (A3880D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066221	NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe)	PKD1	Duplication (inframe insertion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066212	NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg)	PKD1 (L373R)	Indel (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066207	NM_001009944.3(PKD1):c.3586_3587del (p.Thr1196fs)	PKD1 (T1196fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066205	NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs)	PKD1, PKD1-AS1 (T3717fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066202	NM_001009944.3(PKD1):c.3764del (p.Gly1255fs)	PKD1 (G1255fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066198	NM_001009944.3(PKD1):c.10261_10264del (p.Pro3421fs)	PKD1 (P3420fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066195	NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs)	PKD1 (S4190fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066194	NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu)	PKD1 (V2064E)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066174	NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del)	PKD1	Deletion (inframe deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066166	NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser)	PKD1, PKD1-AS1 (I3716S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066163	NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp)	PKD1 (V3215D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066159	NM_001009944.3(PKD1):c.4308_4339del (p.Asp1437fs)	PKD1 (D1437fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066147	NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)	PKD1 (H2998P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066144	NM_001009944.3(PKD1):c.11023del (p.Leu3675fs)	PKD1, PKD1-AS1 (L3674fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066139	NM_001009944.3(PKD1):c.3162-3C>G	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066130	NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)	PKD1 (H1093D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066114	NM_001009944.3(PKD1):c.9417del (p.Ile3140fs)	PKD1 (I3140fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066110	NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro)	PKD1 (L444P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066097	NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser)	PKD1 (C51S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066096	NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)	PKD1 (C3284Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066094	NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp)	PKD1 (Y953D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066089	NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr)	PKD1 (F4154Y +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3065856	NM_001009944.3(PKD1):c.7075del (p.Arg2359fs)	PKD1 (R2359fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3065804	NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys)	PKD1 (S2372C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3065794	NM_001009944.3(PKD1):c.5462C>T (p.Ser1821Phe)	PKD1 (S1821F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3065430	NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs)	PKD1 (D552fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3065372	NM_001009944.3(PKD1):c.340T>G (p.Leu114Val)	PKD1 (L114V)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3065371	NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter)	PKD1 (Y828*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3065082	NM_001009944.3(PKD1):c.1312dup (p.Ala438fs)	PKD1 (A438fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3064745	NM_001009944.3(PKD1):c.5744C>T (p.Ser1915Leu)	PKD1 (S1915L)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely benign
Select item 3064446	NM_001009944.3(PKD1):c.11717G>A (p.Cys3906Tyr)	PKD1 (C3905Y +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3064111	NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)	PKD1 (Q3440* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3063587	NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln)	PKD1 (H3137Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3063582	NM_001009944.3(PKD1):c.3992G>A (p.Gly1331Glu)	PKD1 (G1331E)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3062015	NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)	PKD1 (G2970fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3061918	NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)	PKD1 (N2832fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3061891	NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)	PKD1 (E2184fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3061888	NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys)	PKD1 (E3252K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3061875	NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)	PKD1	Deletion (inframe_deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3061867	NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)	PKD1 (S1452F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3061844	NM_001009944.3(PKD1):c.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro)	PKD1	Indel (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3024074	NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)	PKD1 (W1826*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2920658	NM_001009944.3(PKD1):c.3161+5G>C	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2692345	NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)	PKD1 (G3177D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2692344	NM_001009944.3(PKD1):c.11412-7_11468del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2692338	NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)	PKD1 (W2187C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2692331	NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys)	PKD1 (W139C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2692315	NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)	PKD1 (A1315D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2692309	NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)	PKD1 (Y4126* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 2692306	NM_001009944.3(PKD1):c.10822-30_10852del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2691382	NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)	PKD1 (Q4004* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
Select item 2691272	NM_001009944.3(PKD1):c.7209_7209+1delinsTT	PKD1	Indel (splice donor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2691271	NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs)	PKD1 (L3930fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2691270	NM_001009944.3(PKD1):c.4264del (p.Ala1422fs)	PKD1 (A1422fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2691269	NM_001009944.3(PKD1):c.4651del (p.Leu1551fs)	PKD1 (L1551fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2691266	NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)	PKD1-AS1, PKD1 (H3788fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2691265	NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs)	PKD1 (L899fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2691264	NM_001009944.3(PKD1):c.9397G>T (p.Gly3133Cys)	PKD1 (G3133C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2691263	NM_001009944.3(PKD1):c.11959G>A (p.Ala3987Thr)	PKD1 (A3986T +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance

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