List of variants in gene PKD1 reported as uncertain significance by MVZ Medizinische Genetik Mainz

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)	rs767435117	0.00004
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)	rs980803513	0.00003
NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)	rs1321320963	0.00001
NM_001009944.3(PKD1):c.7065G>A (p.Thr2355=)	rs573444508	0.00001
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)	rs2544688515
NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)	rs2544651770
NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)	rs2544651044
NM_001009944.3(PKD1):c.10771T>C (p.Ser3591Pro)	rs2544650348
NM_001009944.3(PKD1):c.10802T>G (p.Leu3601Arg)	rs2544649965
NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)	rs2544647097
NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)	rs758831274
NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser)	rs2544637950
NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg)	rs2544877658
NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro)	rs2544632089
NM_001009944.3(PKD1):c.11270-4del
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
NM_001009944.3(PKD1):c.11532C>A (p.Asp3844Glu)
NM_001009944.3(PKD1):c.11546C>A (p.Ala3849Asp)
NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys)	rs2091580237
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)	rs2544614386
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)	rs2544598854
NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly)	rs2544597374
NM_001009944.3(PKD1):c.1202-10C>A	rs529554291
NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys)	rs757297994
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr)	rs2544876485
NM_001009944.3(PKD1):c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)	rs2544584568
NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr)	rs2544581051
NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser)	rs2544581051
NM_001009944.3(PKD1):c.1282_1296del (p.Ala428_Ala432del)	rs2544876125
NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)
NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)
NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro)	rs2544875911
NM_001009944.3(PKD1):c.1386-3C>G
NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)
NM_001009944.3(PKD1):c.1501C>T (p.His501Tyr)	rs2544872195
NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser)	rs2151858256
NM_001009944.3(PKD1):c.1564T>G (p.Cys522Gly)	rs2544871836
NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)	rs2544866152
NM_001009944.3(PKD1):c.2097G>C (p.Ser699=)	rs2544860109
NM_001009944.3(PKD1):c.215+672G>A
NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg)	rs754490344
NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)
NM_001009944.3(PKD1):c.2853+5G>C	rs1287693928
NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp)	rs2544845376
NM_001009944.3(PKD1):c.2948A>G (p.Asn983Ser)	rs753961474
NM_001009944.3(PKD1):c.2985+3del
NM_001009944.3(PKD1):c.3141_3158dup (p.Ala1052_Phe1053insLeuAlaValGluValAla)
NM_001009944.3(PKD1):c.3161T>C (p.Leu1054Pro)	rs2544840969
NM_001009944.3(PKD1):c.3162-3C>G	rs2544837768
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)	rs146352591
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)	rs2544828142
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)	rs762953714
NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del)	rs2544824510
NM_001009944.3(PKD1):c.4457T>C (p.Leu1486Pro)
NM_001009944.3(PKD1):c.4493A>G (p.Tyr1498Cys)	rs2544821178
NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)
NM_001009944.3(PKD1):c.4838C>A (p.Ala1613Asp)
NM_001009944.3(PKD1):c.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro)	rs2544814037
NM_001009944.3(PKD1):c.5249A>G (p.Tyr1750Cys)
NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)	rs1475056804
NM_001009944.3(PKD1):c.5509T>G (p.Trp1837Gly)
NM_001009944.3(PKD1):c.5615T>G (p.Val1872Gly)	rs2544811105
NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser)	rs2544809840
NM_001009944.3(PKD1):c.5839GTG[1] (p.Val1948del)	rs2544808543
NM_001009944.3(PKD1):c.6011A>G (p.Tyr2004Cys)	rs2544806761
NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del)	rs2092436949
NM_001009944.3(PKD1):c.6131A>T (p.Asn2044Ile)
NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu)	rs2544804974
NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)
NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)
NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe)	rs2544803389
NM_001009944.3(PKD1):c.6383A>G (p.Asn2128Ser)	rs2544803461
NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys)	rs867422468
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)	rs867422468
NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro)	rs751540966
NM_001009944.3(PKD1):c.6640C>T (p.Pro2214Ser)	rs1567191971
NM_001009944.3(PKD1):c.6700G>T (p.Val2234Leu)	rs762322536
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly)	rs2544785366
NM_001009944.3(PKD1):c.7271C>A (p.Thr2424Lys)
NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)
NM_001009944.3(PKD1):c.8272_8283del (p.Ala2758_Arg2761del)	rs2544746064
NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=)	rs2544745305
NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)	rs2544743677
NM_001009944.3(PKD1):c.8776T>C (p.Tyr2926His)
NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)
NM_001009944.3(PKD1):c.8978T>G (p.Leu2993Arg)	rs1555450487
NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)	rs2092140615
NM_001009944.3(PKD1):c.9038C>T (p.Ser3013Phe)	rs2544733576
NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)	rs2544733483
NM_001009944.3(PKD1):c.9201+5G>C
NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu)	rs2544729964
NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)	rs2544717733
NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)
NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp)	rs2544715688
NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys)	rs2544713808
NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)	rs1210319842
NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)	rs2544712909

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