PKD1-AS1 (PKD1 antisense RNA 1) - Rat Genome Database

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Gene: PKD1-AS1 (PKD1 antisense RNA 1) Homo sapiens
Analyze
Symbol: PKD1-AS1
Name: PKD1 antisense RNA 1
RGD ID: 16562488
HGNC Page HGNC:56035
Description: ASSOCIATED WITH autosomal dominant polycystic kidney disease; Endometrial carcinoma; endometrial carcinoma
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC009065.2; AC009065.3; LOC105371049; novel transcript, overlapping TSC2; uncharacterized LOC105371049
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,091,436 - 2,095,017 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,091,436 - 2,095,433 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,141,437 - 2,145,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map16p13.3NCBI
CHM1_1162,141,398 - 2,144,979 (+)NCBICHM1_1
T2T-CHM13v2.0162,111,559 - 2,115,140 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:16341674  


Genomics

Variants

.
Variants in PKD1-AS1
238 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001009944.3(PKD1):c.11412-7C>T single nucleotide variant Polycystic kidney disease, adult type [RCV001286725] Chr16:2091913 [GRCh38]
Chr16:2141914 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) single nucleotide variant PKD1-related condition [RCV003898280]|Polycystic kidney disease [RCV001292345]|Polycystic kidney disease, adult type [RCV002486100]|not provided [RCV003393955] Chr16:2092487 [GRCh38]
Chr16:2142488 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly) single nucleotide variant Polycystic kidney disease [RCV001292500] Chr16:2093975 [GRCh38]
Chr16:2143976 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter) single nucleotide variant Polycystic kidney disease [RCV001292532] Chr16:2092571 [GRCh38]
Chr16:2142572 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10822-8C>G single nucleotide variant Polycystic kidney disease [RCV001292257]|Polycystic kidney disease, adult type [RCV002493536] Chr16:2093746 [GRCh38]
Chr16:2143747 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs) deletion Polycystic kidney disease [RCV001292290] Chr16:2091583 [GRCh38]
Chr16:2141584 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10821+4A>G single nucleotide variant Inborn genetic diseases [RCV003246255] Chr16:2093807 [GRCh38]
Chr16:2143808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10749C>T (p.Gly3583=) single nucleotide variant not provided [RCV000712576] Chr16:2093883 [GRCh38]
Chr16:2143884 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn) single nucleotide variant Inborn genetic diseases [RCV003277593] Chr16:2092114 [GRCh38]
Chr16:2142115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10801C>T (p.Leu3601Phe) single nucleotide variant Inborn genetic diseases [RCV003261577] Chr16:2093831 [GRCh38]
Chr16:2143832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11270-10T>G single nucleotide variant not provided [RCV003239076] Chr16:2092198 [GRCh38]
Chr16:2142199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11017-16dup duplication not provided [RCV001547006] Chr16:2093102..2093103 [GRCh38]
Chr16:2143103..2143104 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11293C>T (p.Pro3765Ser) single nucleotide variant not provided [RCV001575092] Chr16:2092165 [GRCh38]
Chr16:2142166 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11161dup (p.Glu3721fs) duplication not provided [RCV001663776] Chr16:2092587..2092588 [GRCh38]
Chr16:2142588..2142589 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) microsatellite not provided [RCV001662511]|not specified [RCV000505850] Chr16:2092183..2092184 [GRCh38]
Chr16:2142184..2142185 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10618+2T>G single nucleotide variant not provided [RCV000516379] Chr16:2094090 [GRCh38]
Chr16:2144091 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844836]|not specified [RCV000517368] Chr16:2092577 [GRCh38]
Chr16:2142578 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His) single nucleotide variant not provided [RCV000657965] Chr16:2093599 [GRCh38]
Chr16:2143600 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs) duplication not provided [RCV000712582] Chr16:2091864..2091865 [GRCh38]
Chr16:2141865..2141866 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) single nucleotide variant Polycystic kidney disease, adult type [RCV000999847]|not provided [RCV000755619]|not specified [RCV000246197] Chr16:2091795 [GRCh38]
Chr16:2141796 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) deletion PKD1-related condition [RCV003424276]|Polycystic kidney disease, adult type [RCV001001312]|not provided [RCV000681729] Chr16:2092079 [GRCh38]
Chr16:2142080 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_000296.4(PKD1):c.11534+3_11534+5dup duplication Polycystic kidney disease [RCV001291847]|Polycystic kidney disease, adult type [RCV000989447]|not provided [RCV000712583]|not specified [RCV000250913] Chr16:2091775..2091776 [GRCh38]
Chr16:2141776..2141777 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) single nucleotide variant Polycystic kidney disease [RCV000415211]|Polycystic kidney disease, adult type [RCV001195959]|not provided [RCV003311806] Chr16:2091794 [GRCh38]
Chr16:2141795 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) single nucleotide variant Polycystic kidney disease, adult type [RCV000763370]|not provided [RCV000518735] Chr16:2091865 [GRCh38]
Chr16:2141866 [GRCh37]
Chr16:16p13.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) single nucleotide variant PKD1-related condition [RCV003392341]|Polycystic kidney disease, adult type [RCV000507238]|not provided [RCV001552580] Chr16:2092491 [GRCh38]
Chr16:2142492 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) deletion Polycystic kidney disease, adult type [RCV000149768] Chr16:2091581 [GRCh38]
Chr16:2141582 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
NC_000016.10:g.2077605_2284389dup duplication Endometrial carcinoma [RCV000588521] Chr16:2077605..2284389 [GRCh38]
Chr16:2127606..2334390 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del) microsatellite not provided [RCV000788698] Chr16:2091831..2091833 [GRCh38]
Chr16:2141832..2141834 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11411+1G>C single nucleotide variant Polycystic kidney disease, adult type [RCV001095596] Chr16:2092046 [GRCh38]
Chr16:2142047 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254256]|Polycystic kidney disease [RCV001292160]|Polycystic kidney disease, adult type [RCV001095597]|not provided [RCV000788943] Chr16:2092500 [GRCh38]
Chr16:2142501 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr) single nucleotide variant Polycystic kidney disease, adult type [RCV001095630]|not provided [RCV002285440] Chr16:2093618 [GRCh38]
Chr16:2143619 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254192]|Polycystic kidney disease [RCV001291846]|Polycystic kidney disease, adult type [RCV000576428]|not provided [RCV001534862]|not specified [RCV000243834] Chr16:2094175 [GRCh38]
Chr16:2144176 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) single nucleotide variant Inborn genetic diseases [RCV002554840]|Polycystic kidney disease, adult type [RCV002489734]|not provided [RCV001091871]|not specified [RCV003235468] Chr16:2091463 [GRCh38]
Chr16:2141464 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) single nucleotide variant Polycystic kidney disease [RCV001291848]|Polycystic kidney disease, adult type [RCV000576449]|not provided [RCV001706303]|not specified [RCV000247104] Chr16:2091453 [GRCh38]
Chr16:2141454 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254231]|Polycystic kidney disease, adult type [RCV000576633]|not provided [RCV001706302]|not specified [RCV000246969] Chr16:2093864 [GRCh38]
Chr16:2143865 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11156+13G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001353767]|Polycystic kidney disease, adult type [RCV000999996]|not provided [RCV002292498]|not specified [RCV000253871] Chr16:2092941 [GRCh38]
Chr16:2142942 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp) single nucleotide variant Polycystic kidney disease, adult type [RCV001000871]|not provided [RCV000992547] Chr16:2093546 [GRCh38]
Chr16:2143547 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11646C>G (p.Ala3882=) single nucleotide variant not provided [RCV000996161] Chr16:2091489 [GRCh38]
Chr16:2141490 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) duplication Inborn genetic diseases [RCV000624556]|Polycystic kidney disease, adult type [RCV001281304]|not provided [RCV002473074] Chr16:2093886..2093887 [GRCh38]
Chr16:2143887..2143888 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11304C>T (p.His3768=) single nucleotide variant Polycystic kidney disease, adult type [RCV001002099] Chr16:2092154 [GRCh38]
Chr16:2142155 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter) single nucleotide variant not provided [RCV001007966] Chr16:2094122 [GRCh38]
Chr16:2144123 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) single nucleotide variant Polycystic kidney disease, adult type [RCV002493263]|not provided [RCV000712574] Chr16:2094132 [GRCh38]
Chr16:2144133 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) single nucleotide variant Polycystic kidney disease [RCV000500400]|Polycystic kidney disease, adult type [RCV001000829] Chr16:2091483 [GRCh38]
Chr16:2141484 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) single nucleotide variant PKD1-related condition [RCV003405365]|Polycystic kidney disease, adult type [RCV003446631]|not provided [RCV001172090] Chr16:2093602 [GRCh38]
Chr16:2143603 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000016.10:g.(?_2053322)_(2092208_?)del deletion Tuberous sclerosis 2 [RCV000708500] Chr16:2053322..2092208 [GRCh38]
Chr16:2103323..2142209 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=) single nucleotide variant not provided [RCV000712575] Chr16:2094108 [GRCh38]
Chr16:2144109 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs) duplication Polycystic kidney disease, adult type [RCV000505550] Chr16:2094149..2094150 [GRCh38]
Chr16:2144150..2144151 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) microsatellite Polycystic kidney disease, adult type [RCV000505620] Chr16:2092152..2092153 [GRCh38]
Chr16:2142153..2142154 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs) duplication Polycystic kidney disease, adult type [RCV001095571] Chr16:2092062..2092063 [GRCh38]
Chr16:2142063..2142064 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001095623] Chr16:2092991 [GRCh38]
Chr16:2142992 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg) single nucleotide variant Polycystic kidney disease [RCV001292182]|not specified [RCV000249608] Chr16:2092121 [GRCh38]
Chr16:2142122 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.10822-8del deletion Polycystic kidney disease [RCV001292128]|not specified [RCV000249104] Chr16:2093746 [GRCh38]
Chr16:2143747 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11538-2del deletion not specified [RCV000507772] Chr16:2091599 [GRCh38]
Chr16:2141600 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11412-3C>G single nucleotide variant not provided [RCV000712581] Chr16:2091909 [GRCh38]
Chr16:2141910 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11432G>A (p.Cys3811Tyr) single nucleotide variant not provided [RCV000788423] Chr16:2091886 [GRCh38]
Chr16:2141887 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) single nucleotide variant PKD1-related condition [RCV003411695]|not provided [RCV000757641] Chr16:2093710 [GRCh38]
Chr16:2143711 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11656C>A (p.Arg3886Ser) single nucleotide variant not provided [RCV000419831] Chr16:2091479 [GRCh38]
Chr16:2141480 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV002272343]|not provided [RCV000756519] Chr16:2093908 [GRCh38]
Chr16:2143909 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10821+1del deletion not provided [RCV000788848] Chr16:2093810 [GRCh38]
Chr16:2143811 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup) duplication not provided [RCV000413784] Chr16:2092483..2092484 [GRCh38]
Chr16:2142484..2142485 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) single nucleotide variant Polycystic kidney disease, adult type [RCV000506356]|not provided [RCV000788854] Chr16:2092954 [GRCh38]
Chr16:2142955 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11579C>T (p.Ala3860Val) single nucleotide variant not provided [RCV001249095] Chr16:2091556 [GRCh38]
Chr16:2141557 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11105A>C (p.Gln3702Pro) single nucleotide variant not provided [RCV001249164] Chr16:2093005 [GRCh38]
Chr16:2143006 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) single nucleotide variant Polycystic kidney disease [RCV001292379]|Polycystic kidney disease, adult type [RCV000576829]|not provided [RCV001573263]|not specified [RCV000254397] Chr16:2092112 [GRCh38]
Chr16:2142113 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV000449600] Chr16:2092181 [GRCh38]
Chr16:2142182 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) duplication Polycystic kidney disease, adult type [RCV001029923] Chr16:2093061..2093062 [GRCh38]
Chr16:2143062..2143063 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NC_000016.10:g.(?_2048596)_(2119398_?)del deletion Tuberous sclerosis 2 [RCV000800659] Chr16:2048596..2119398 [GRCh38]
Chr16:2098597..2169399 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) single nucleotide variant Inborn genetic diseases [RCV002527182]|PKD1-related condition [RCV003925440]|Polycystic kidney disease, adult type [RCV000764031]|not provided [RCV001796076]|not specified [RCV000500290] Chr16:2092102 [GRCh38]
Chr16:2142103 [GRCh37]
Chr16:16p13.3		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001009944.3(PKD1):c.10910C>T (p.Thr3637Met) single nucleotide variant Inborn genetic diseases [RCV003291789] Chr16:2093650 [GRCh38]
Chr16:2143651 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV000408619] Chr16:2094127 [GRCh38]
Chr16:2144128 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) single nucleotide variant Polycystic kidney disease, adult type [RCV002489471]|not provided [RCV000992554] Chr16:2091447 [GRCh38]
Chr16:2141448 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3(chr16:2084201-2092088)x3 copy number gain See cases [RCV000140346] Chr16:2084201..2092088 [GRCh38]
Chr16:2134202..2142089 [GRCh37]
Chr16:2074203..2082090 [NCBI36]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) single nucleotide variant Polycystic kidney disease [RCV001291995]|Polycystic kidney disease, adult type [RCV001283789]|not provided [RCV000681771] Chr16:2092492 [GRCh38]
Chr16:2142493 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NC_000016.10:g.(?_2081575)_(2104662_?)del deletion Tuberous sclerosis 2 [RCV000805913] Chr16:2081575..2104662 [GRCh38]
Chr16:2131576..2154663 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=) single nucleotide variant not specified [RCV000517589] Chr16:2091492 [GRCh38]
Chr16:2141493 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs) deletion not provided [RCV000681713] Chr16:2092483..2092498 [GRCh38]
Chr16:2142484..2142499 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs) deletion not provided [RCV000681737] Chr16:2093562 [GRCh38]
Chr16:2143563 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter) duplication not provided [RCV000516820] Chr16:2091564..2091565 [GRCh38]
Chr16:2141565..2141566 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11017-3C>T single nucleotide variant PKD1-related condition [RCV003935331]|Polycystic kidney disease [RCV001292440]|Polycystic kidney disease, adult type [RCV000764032]|not provided [RCV001591157]|not specified [RCV000506691] Chr16:2093096 [GRCh38]
Chr16:2143097 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_001009944.3(PKD1):c.11270-10T>A single nucleotide variant Polycystic kidney disease, adult type [RCV000735756] Chr16:2092198 [GRCh38]
Chr16:2142199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) deletion PKD1-related condition [RCV003892403]|Polycystic kidney disease, adult type [RCV000625532] Chr16:2093077 [GRCh38]
Chr16:2143078 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) single nucleotide variant Polycystic kidney disease, adult type [RCV000625633] Chr16:2091451 [GRCh38]
Chr16:2141452 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) single nucleotide variant Polycystic kidney disease, adult type [RCV000519385] Chr16:2092107 [GRCh38]
Chr16:2142108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) single nucleotide variant Polycystic kidney disease, adult type [RCV001095556] Chr16:2091521 [GRCh38]
Chr16:2141522 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser) single nucleotide variant Polycystic kidney disease, adult type [RCV001248763] Chr16:2093734 [GRCh38]
Chr16:2143735 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter) single nucleotide variant not provided [RCV003237145] Chr16:2093718 [GRCh38]
Chr16:2143719 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) duplication Polycystic kidney disease, adult type [RCV002488401]|not provided [RCV001575466] Chr16:2092112..2092113 [GRCh38]
Chr16:2142113..2142114 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs) duplication Polycystic kidney disease, adult type [RCV000625661] Chr16:2092972..2092973 [GRCh38]
Chr16:2142973..2142974 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) microsatellite Polycystic kidney disease, adult type [RCV000505664] Chr16:2093916..2093917 [GRCh38]
Chr16:2143917..2143918 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10946C>A (p.Pro3649His) single nucleotide variant Polycystic kidney disease, adult type [RCV001095550] Chr16:2093614 [GRCh38]
Chr16:2143615 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001095552]|not provided [RCV000992553] Chr16:2091793 [GRCh38]
Chr16:2141794 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs) duplication Polycystic kidney disease, adult type [RCV001095579] Chr16:2092145..2092146 [GRCh38]
Chr16:2142146..2142147 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs) deletion PKD1-related condition [RCV003413908]|Polycystic kidney disease, adult type [RCV001095634] Chr16:2091864 [GRCh38]
Chr16:2141865 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) single nucleotide variant Polycystic kidney disease, adult type [RCV002503929]|not provided [RCV000712580]|not specified [RCV000244044] Chr16:2092142 [GRCh38]
Chr16:2142143 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844834]|not provided [RCV001729620]|not specified [RCV000506256] Chr16:2094013 [GRCh38]
Chr16:2144014 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter) single nucleotide variant not provided [RCV000756524] Chr16:2094170 [GRCh38]
Chr16:2144171 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter) single nucleotide variant not provided [RCV000788386] Chr16:2092988 [GRCh38]
Chr16:2142989 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh38/hg38 16p13.3(chr16:2089647-2096105)x1 copy number loss See cases [RCV000051997] Chr16:2089647..2096105 [GRCh38]
Chr16:2139648..2146106 [GRCh37]
Chr16:2079649..2086107 [NCBI36]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254285]|Polycystic kidney disease [RCV001291844]|Polycystic kidney disease, adult type [RCV000677315]|not provided [RCV001706301]|not specified [RCV000246477] Chr16:2094181 [GRCh38]
Chr16:2144182 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter) single nucleotide variant Polycystic kidney disease [RCV000678452] Chr16:2092534 [GRCh38]
Chr16:2142535 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10619-1G>A single nucleotide variant Polycystic kidney disease [RCV000678453] Chr16:2094014 [GRCh38]
Chr16:2144015 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11538-2A>C single nucleotide variant Polycystic kidney disease, adult type [RCV002470438] Chr16:2091599 [GRCh38]
Chr16:2141600 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) duplication Polycystic kidney disease, adult type [RCV002251037]|not provided [RCV002473360] Chr16:2091474..2091475 [GRCh38]
Chr16:2141475..2141476 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11017-25A>G single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003229571]|Polycystic kidney disease, adult type [RCV002471290] Chr16:2093118 [GRCh38]
Chr16:2143119 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu) single nucleotide variant not provided [RCV002469737] Chr16:2093836 [GRCh38]
Chr16:2143837 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV002471386] Chr16:2093587 [GRCh38]
Chr16:2143588 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) deletion Polycystic kidney disease, adult type [RCV001535893] Chr16:2094194 [GRCh38]
Chr16:2144195 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10773C>T (p.Ser3591=) single nucleotide variant not specified [RCV001663775] Chr16:2093859 [GRCh38]
Chr16:2143860 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) single nucleotide variant PKD1-related condition [RCV003405744]|Polycystic kidney disease, adult type [RCV002477876]|not provided [RCV001658933] Chr16:2091580 [GRCh38]
Chr16:2141581 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) microsatellite Autosomal dominant polycystic kidney disease [RCV000499512]|Polycystic kidney disease, adult type [RCV001002255]|not provided [RCV001837938] Chr16:2093917..2093922 [GRCh38]
Chr16:2143918..2143923 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV000408841] Chr16:2093815 [GRCh38]
Chr16:2143816 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NC_000016.10:g.2092048_2092049dup duplication Polycystic kidney disease, adult type [RCV000995839] Chr16:2092045..2092046 [GRCh38]
Chr16:2142046..2142047 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro) single nucleotide variant PKD1-related condition [RCV003392729]|Polycystic kidney disease, adult type [RCV001001131] Chr16:2093657 [GRCh38]
Chr16:2143658 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11156+36C>T single nucleotide variant Polycystic kidney disease, adult type [RCV001001275] Chr16:2092918 [GRCh38]
Chr16:2142919 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu) single nucleotide variant Polycystic kidney disease, adult type [RCV001001347] Chr16:2091868 [GRCh38]
Chr16:2141869 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp) single nucleotide variant not provided [RCV000712578] Chr16:2093621 [GRCh38]
Chr16:2143622 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10822-14C>T single nucleotide variant Polycystic kidney disease [RCV001292381]|Polycystic kidney disease, adult type [RCV000999834]|not specified [RCV000244335] Chr16:2093752 [GRCh38]
Chr16:2143753 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11538-11C>T single nucleotide variant Polycystic kidney disease [RCV001292272]|Polycystic kidney disease, adult type [RCV001001790]|not provided [RCV001731462]|not specified [RCV000245054] Chr16:2091608 [GRCh38]
Chr16:2141609 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs) deletion Polycystic kidney disease, adult type [RCV000578150] Chr16:2092144 [GRCh38]
Chr16:2142145 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3 copy number gain See cases [RCV000135695] Chr16:1850978..2116369 [GRCh38]
Chr16:1900979..2166370 [GRCh37]
Chr16:1840980..2106371 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001095607]|not provided [RCV002473195] Chr16:2092115 [GRCh38]
Chr16:2142116 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11156+1G>C single nucleotide variant Polycystic kidney disease, adult type [RCV000786889] Chr16:2092953 [GRCh38]
Chr16:2142954 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11412-2A>C single nucleotide variant Polycystic kidney disease, adult type [RCV003319363]|not provided [RCV000517682] Chr16:2091908 [GRCh38]
Chr16:2141909 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) duplication Polycystic kidney disease, adult type [RCV000519491]|not provided [RCV001249096] Chr16:2092113..2092114 [GRCh38]
Chr16:2142114..2142115 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs) deletion Polycystic kidney disease, adult type [RCV001174550] Chr16:2092145..2092164 [GRCh38]
Chr16:2142146..2142165 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) single nucleotide variant Polycystic kidney disease [RCV001292342]|Polycystic kidney disease, adult type [RCV000989448]|not provided [RCV000756516] Chr16:2093954 [GRCh38]
Chr16:2143955 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11399C>G (p.Pro3800Arg) single nucleotide variant not provided [RCV001249168] Chr16:2092059 [GRCh38]
Chr16:2142060 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11412-2dup duplication not provided [RCV000788659] Chr16:2091907..2091908 [GRCh38]
Chr16:2141908..2141909 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs) duplication not provided [RCV000788850] Chr16:2091571..2091572 [GRCh38]
Chr16:2141572..2141573 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10524del (p.Glu3509fs) deletion not provided [RCV001249132] Chr16:2094186 [GRCh38]
Chr16:2144187 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) deletion Polycystic kidney disease, adult type [RCV000625533] Chr16:2091571..2091572 [GRCh38]
Chr16:2141572..2141573 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs) deletion Polycystic kidney disease, adult type [RCV000625558] Chr16:2093973 [GRCh38]
Chr16:2143974 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_2048596)_(2106697_?)del deletion Tuberous sclerosis 2 [RCV000708278] Chr16:2048596..2106697 [GRCh38]
Chr16:2098597..2156698 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_2055382)_(2119398_?)del deletion Tuberous sclerosis 2 [RCV000708429] Chr16:2055382..2119398 [GRCh38]
Chr16:2105383..2169399 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro) single nucleotide variant Polycystic kidney disease, adult type [RCV001000719] Chr16:2092500 [GRCh38]
Chr16:2142501 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs) deletion Polycystic kidney disease, adult type [RCV001001349] Chr16:2091473..2091486 [GRCh38]
Chr16:2141474..2141487 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10821+1G>A single nucleotide variant Polycystic kidney disease, adult type [RCV001002146] Chr16:2093810 [GRCh38]
Chr16:2143811 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11103_11104delinsCT (p.Gln3702Ter) indel Polycystic kidney disease, adult type [RCV001001092] Chr16:2093006..2093007 [GRCh38]
Chr16:2143007..2143008 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs) deletion not provided [RCV000756495] Chr16:2094125..2094158 [GRCh38]
Chr16:2144126..2144159 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11017-10C>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003229566]|Polycystic kidney disease [RCV001292441]|Polycystic kidney disease, adult type [RCV002497287]|not provided [RCV000992548] Chr16:2093103 [GRCh38]
Chr16:2143104 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11156+5G>A single nucleotide variant not provided [RCV000992549] Chr16:2092949 [GRCh38]
Chr16:2142950 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:2089462-2092132)x1 copy number loss See cases [RCV000051976] Chr16:2089462..2092132 [GRCh38]
Chr16:2139463..2142133 [GRCh37]
Chr16:2079464..2082134 [NCBI36]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11538-4G>T single nucleotide variant PKD1-related condition [RCV003891864]|Polycystic kidney disease, adult type [RCV002494719] Chr16:2091601 [GRCh38]
Chr16:2141602 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) single nucleotide variant Polycystic kidney disease, adult type [RCV002494720]|not provided [RCV000712584]|not specified [RCV000242311] Chr16:2091558 [GRCh38]
Chr16:2141559 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) single nucleotide variant PKD1-related condition [RCV003979911]|Polycystic kidney disease [RCV001292046]|not provided [RCV000755617]|not specified [RCV000506740] Chr16:2093545 [GRCh38]
Chr16:2143546 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His) single nucleotide variant not specified [RCV000506779] Chr16:2093011 [GRCh38]
Chr16:2143012 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs) deletion not provided [RCV000516599] Chr16:2093033..2093052 [GRCh38]
Chr16:2143034..2143053 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln) single nucleotide variant not provided [RCV000782195] Chr16:2093620 [GRCh38]
Chr16:2143621 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2086173)_(2112493_?)del deletion Tuberous sclerosis 2 [RCV000644423] Chr16:2086173..2112493 [GRCh38]
Chr16:2136174..2162494 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) single nucleotide variant Polycystic kidney disease, adult type [RCV002505512]|not provided [RCV000996162] Chr16:2093828 [GRCh38]
Chr16:2143829 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11199C>T (p.Pro3733=) single nucleotide variant not provided [RCV000992551] Chr16:2092550 [GRCh38]
Chr16:2142551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) single nucleotide variant Polycystic kidney disease [RCV001291845]|not provided [RCV001731547]|not specified [RCV000252033] Chr16:2094179 [GRCh38]
Chr16:2144180 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11538-10C>T single nucleotide variant not specified [RCV000253261] Chr16:2091607 [GRCh38]
Chr16:2141608 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) single nucleotide variant Polycystic kidney disease [RCV000501425]|Polycystic kidney disease, adult type [RCV002248738] Chr16:2091857 [GRCh38]
Chr16:2141858 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) single nucleotide variant not specified [RCV000506976] Chr16:2091529 [GRCh38]
Chr16:2141530 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) single nucleotide variant Polycystic kidney disease, adult type [RCV002496969]|not provided [RCV003389811]|not specified [RCV000507483] Chr16:2093688 [GRCh38]
Chr16:2143689 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11213A>G (p.Asn3738Ser) single nucleotide variant not specified [RCV000516589] Chr16:2092536 [GRCh38]
Chr16:2142537 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2079012)_(2092208_?)del deletion Tuberous sclerosis 2 [RCV000707792] Chr16:2079012..2092208 [GRCh38]
Chr16:2129013..2142209 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) single nucleotide variant Polycystic kidney disease, adult type [RCV000505551] Chr16:2093812 [GRCh38]
Chr16:2143813 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV000505553] Chr16:2093032 [GRCh38]
Chr16:2143033 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.10890G>A (p.Leu3630=) single nucleotide variant not provided [RCV000712577] Chr16:2093670 [GRCh38]
Chr16:2143671 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11258G>C (p.Arg3753Pro) single nucleotide variant not provided [RCV000992552] Chr16:2092491 [GRCh38]
Chr16:2142492 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV002490886]|not provided [RCV000518508] Chr16:2092573 [GRCh38]
Chr16:2142574 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) single nucleotide variant not provided [RCV000788222] Chr16:2092068 [GRCh38]
Chr16:2142069 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10687C>T (p.Leu3563=) single nucleotide variant not provided [RCV000757643] Chr16:2093945 [GRCh38]
Chr16:2143946 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) deletion Polycystic kidney disease, adult type [RCV002477742]|not provided [RCV000757632] Chr16:2092543..2092549 [GRCh38]
Chr16:2142544..2142550 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) deletion Polycystic kidney disease, adult type [RCV000008680] Chr16:2092486..2092500 [GRCh38]
Chr16:2142487..2142501 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV000008682]|not provided [RCV002293410] Chr16:2091806 [GRCh38]
Chr16:2141807 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV000008684] Chr16:2091861 [GRCh38]
Chr16:2141862 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10821G>C (p.Lys3607Asn) single nucleotide variant Polycystic kidney disease, adult type [RCV001253347] Chr16:2093811 [GRCh38]
Chr16:2143812 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11016+42_11016+43del deletion Autosomal dominant polycystic kidney disease [RCV001254238] Chr16:2093501..2093502 [GRCh38]
Chr16:2143502..2143503 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11269+128C>T single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254191] Chr16:2092352 [GRCh38]
Chr16:2142353 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254250] Chr16:2091596 [GRCh38]
Chr16:2141597 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001251488] Chr16:2091442 [GRCh38]
Chr16:2141443 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys) single nucleotide variant Polycystic kidney disease, adult type [RCV001251489] Chr16:2093822 [GRCh38]
Chr16:2143823 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254303]|Polycystic kidney disease, adult type [RCV002499446]|not provided [RCV001549420]|not specified [RCV001288320] Chr16:2092082 [GRCh38]
Chr16:2142083 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) duplication Polycystic kidney disease, adult type [RCV001265655] Chr16:2093038..2093039 [GRCh38]
Chr16:2143039..2143040 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs) deletion Polycystic kidney disease [RCV001292378] Chr16:2093899 [GRCh38]
Chr16:2143900 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11156+4C>T single nucleotide variant Polycystic kidney disease [RCV001292460] Chr16:2092950 [GRCh38]
Chr16:2142951 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) duplication Polycystic kidney disease, adult type [RCV001536126] Chr16:2092112..2092113 [GRCh38]
Chr16:2142113..2142114 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=) single nucleotide variant PKD1-related condition [RCV003953629]|Polycystic kidney disease [RCV001292517]|not provided [RCV001288322] Chr16:2091546 [GRCh38]
Chr16:2141547 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV001281306] Chr16:2093614 [GRCh38]
Chr16:2143615 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001281312] Chr16:2091861 [GRCh38]
Chr16:2141862 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) single nucleotide variant Polycystic kidney disease, adult type [RCV002495990]|not provided [RCV001663777]|not specified [RCV002241573] Chr16:2091460 [GRCh38]
Chr16:2141461 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11411+18C>T single nucleotide variant Polycystic kidney disease, adult type [RCV001286429] Chr16:2092029 [GRCh38]
Chr16:2142030 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs) deletion not provided [RCV001288275] Chr16:2092114 [GRCh38]
Chr16:2142115 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) single nucleotide variant PKD1-related condition [RCV003918828]|Polycystic kidney disease, adult type [RCV002499504]|not provided [RCV001546819]|not specified [RCV001288321] Chr16:2092070 [GRCh38]
Chr16:2142071 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) microsatellite Polycystic kidney disease, adult type [RCV001280827] Chr16:2092090..2092091 [GRCh38]
Chr16:2142091..2142092 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val) single nucleotide variant PKD1-related condition [RCV003963183]|not provided [RCV001288271] Chr16:2094136 [GRCh38]
Chr16:2144137 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11017-47_11022del deletion Polycystic kidney disease, adult type [RCV001280879] Chr16:2093088..2093140 [GRCh38]
Chr16:2143089..2143141 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs) duplication Polycystic kidney disease, adult type [RCV001281311] Chr16:2091891..2091892 [GRCh38]
Chr16:2141892..2141893 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del) deletion Polycystic kidney disease, adult type [RCV001281308] Chr16:2092115..2092117 [GRCh38]
Chr16:2142116..2142118 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11412-7C>G single nucleotide variant Polycystic kidney disease [RCV001291999] Chr16:2091913 [GRCh38]
Chr16:2141914 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11156+12_11156+13delinsAA indel Polycystic kidney disease [RCV001292375] Chr16:2092941..2092942 [GRCh38]
Chr16:2142942..2142943 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs) insertion Polycystic kidney disease [RCV001292533] Chr16:2092144..2092145 [GRCh38]
Chr16:2142145..2142146 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11538-10C>A single nucleotide variant Polycystic kidney disease [RCV001292226] Chr16:2091607 [GRCh38]
Chr16:2141608 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His) single nucleotide variant Polycystic kidney disease [RCV001292397] Chr16:2093989 [GRCh38]
Chr16:2143990 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10922C>T (p.Ala3641Val) single nucleotide variant Polycystic kidney disease, adult type [RCV001332650] Chr16:2093638 [GRCh38]
Chr16:2143639 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11157-9C>G single nucleotide variant Polycystic kidney disease, adult type [RCV001335527] Chr16:2092601 [GRCh38]
Chr16:2142602 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11355G>T (p.Trp3785Cys) single nucleotide variant not provided [RCV001288319] Chr16:2092103 [GRCh38]
Chr16:2142104 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10822-4C>G single nucleotide variant not provided [RCV001288272] Chr16:2093742 [GRCh38]
Chr16:2143743 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) deletion not provided [RCV001288274] Chr16:2092113..2092118 [GRCh38]
Chr16:2142114..2142119 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV001281303] Chr16:2093938 [GRCh38]
Chr16:2143939 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10822-1G>C single nucleotide variant Polycystic kidney disease, adult type [RCV001281305] Chr16:2093739 [GRCh38]
Chr16:2143740 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly) single nucleotide variant Polycystic kidney disease, adult type [RCV001281310] Chr16:2091902 [GRCh38]
Chr16:2141903 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) single nucleotide variant Polycystic kidney disease, adult type [RCV002504573]|not provided [RCV001354832] Chr16:2092111 [GRCh38]
Chr16:2142112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg) single nucleotide variant Polycystic kidney disease [RCV001292063] Chr16:2092048 [GRCh38]
Chr16:2142049 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10966C>T (p.Leu3656=) single nucleotide variant Polycystic kidney disease [RCV001292100] Chr16:2093594 [GRCh38]
Chr16:2143595 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs) deletion Polycystic kidney disease [RCV001292130] Chr16:2092070 [GRCh38]
Chr16:2142071 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10619-12_10619-11del microsatellite Polycystic kidney disease [RCV001292172] Chr16:2094024..2094025 [GRCh38]
Chr16:2144025..2144026 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11263C>T (p.Gln3755Ter) single nucleotide variant not provided [RCV001311421] Chr16:2092486 [GRCh38]
Chr16:2142487 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001536122] Chr16:2091578 [GRCh38]
Chr16:2141579 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys) single nucleotide variant not provided [RCV001288273] Chr16:2093627 [GRCh38]
Chr16:2143628 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs) insertion Polycystic kidney disease, adult type [RCV001281147] Chr16:2091506..2091507 [GRCh38]
Chr16:2141507..2141508 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) single nucleotide variant PKD1-related condition [RCV003953682]|Polycystic kidney disease, adult type [RCV002486480]|not provided [RCV001355910] Chr16:2093978 [GRCh38]
Chr16:2143979 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001009944.3(PKD1):c.11157-1G>A single nucleotide variant Polycystic kidney disease [RCV001292150] Chr16:2092593 [GRCh38]
Chr16:2142594 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp) single nucleotide variant Polycystic kidney disease [RCV001292218] Chr16:2092507 [GRCh38]
Chr16:2142508 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val) single nucleotide variant Inborn genetic diseases [RCV002538409]|Polycystic kidney disease [RCV001292222] Chr16:2091508 [GRCh38]
Chr16:2141509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met) single nucleotide variant Polycystic kidney disease [RCV001292398] Chr16:2093906 [GRCh38]
Chr16:2143907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs) duplication Polycystic kidney disease, adult type [RCV001335528] Chr16:2091563..2091564 [GRCh38]
Chr16:2141564..2141565 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=) single nucleotide variant Polycystic kidney disease [RCV001292512]|not specified [RCV001288323] Chr16:2091519 [GRCh38]
Chr16:2141520 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11537+17C>T single nucleotide variant Polycystic kidney disease, adult type [RCV001286261] Chr16:2091764 [GRCh38]
Chr16:2141765 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) single nucleotide variant Polycystic kidney disease, adult type [RCV001280899]|not provided [RCV003166614] Chr16:2093609 [GRCh38]
Chr16:2143610 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV001280900] Chr16:2092083 [GRCh38]
Chr16:2142084 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10764G>T (p.Trp3588Cys) single nucleotide variant not provided [RCV001354448] Chr16:2093868 [GRCh38]
Chr16:2143869 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=) single nucleotide variant Polycystic kidney disease [RCV001292039] Chr16:2094174 [GRCh38]
Chr16:2144175 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10619-13del deletion Polycystic kidney disease [RCV001292288]|Polycystic kidney disease, adult type [RCV002499528] Chr16:2094026 [GRCh38]
Chr16:2144027 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter) single nucleotide variant Polycystic kidney disease [RCV001292359]|not provided [RCV003106184] Chr16:2093907 [GRCh38]
Chr16:2143908 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11292C>A (p.Gly3764=) single nucleotide variant Polycystic kidney disease [RCV001292434] Chr16:2092166 [GRCh38]
Chr16:2142167 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) microsatellite Polycystic kidney disease, adult type [RCV001391301]|not provided [RCV002305608] Chr16:2094182..2094183 [GRCh38]
Chr16:2144183..2144184 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11537+2T>A single nucleotide variant Polycystic kidney disease, adult type [RCV001536123] Chr16:2091779 [GRCh38]
Chr16:2141780 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs) deletion Polycystic kidney disease, adult type [RCV001506979] Chr16:2092159..2092169 [GRCh38]
Chr16:2142160..2142170 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) duplication Polycystic kidney disease, adult type [RCV001726706] Chr16:2094168..2094169 [GRCh38]
Chr16:2144169..2144170 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) single nucleotide variant Polycystic kidney disease, adult type [RCV002489791]|not provided [RCV001755200] Chr16:2092506 [GRCh38]
Chr16:2142507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.1851807_2093151del deletion Tuberous sclerosis 2 [RCV001257345] Chr16:1851807..2093151 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10524dup (p.Glu3509fs) duplication not provided [RCV002244417] Chr16:2094185..2094186 [GRCh38]
Chr16:2144186..2144187 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs) deletion Polycystic kidney disease, adult type [RCV001731130] Chr16:2091474 [GRCh38]
Chr16:2141475 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs) duplication Polycystic kidney disease, adult type [RCV002273903] Chr16:2093905..2093906 [GRCh38]
Chr16:2143906..2143907 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11621del (p.Pro3874fs) deletion not provided [RCV002254093] Chr16:2091514 [GRCh38]
Chr16:2141515 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10774A>C (p.Ser3592Arg) single nucleotide variant See cases [RCV002252508] Chr16:2093858 [GRCh38]
Chr16:2143859 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV002477920]|not provided [RCV001754397] Chr16:2091529 [GRCh38]
Chr16:2141530 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11214C>G (p.Asn3738Lys) single nucleotide variant not provided [RCV001771330] Chr16:2092535 [GRCh38]
Chr16:2142536 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) single nucleotide variant Polycystic kidney disease, adult type [RCV002506780]|not provided [RCV001767767] Chr16:2092591 [GRCh38]
Chr16:2142592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) single nucleotide variant Polycystic kidney disease, adult type [RCV001801282]|not provided [RCV003227993] Chr16:2093860 [GRCh38]
Chr16:2143861 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11110G>C (p.Ala3704Pro) single nucleotide variant not provided [RCV001763921] Chr16:2093000 [GRCh38]
Chr16:2143001 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11207A>G (p.His3736Arg) single nucleotide variant not provided [RCV001773076] Chr16:2092542 [GRCh38]
Chr16:2142543 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11087G>A (p.Gly3696Glu) single nucleotide variant not provided [RCV001769226] Chr16:2093023 [GRCh38]
Chr16:2143024 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10819A>G (p.Lys3607Glu) single nucleotide variant not provided [RCV001763700] Chr16:2093813 [GRCh38]
Chr16:2143814 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) single nucleotide variant Polycystic kidney disease, adult type [RCV002478016]|not provided [RCV001786639] Chr16:2093080 [GRCh38]
Chr16:2143081 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs) deletion Polycystic kidney disease, adult type [RCV001795810] Chr16:2091865 [GRCh38]
Chr16:2141866 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11412-6C>T single nucleotide variant Inborn genetic diseases [RCV002541297]|Polycystic kidney disease, adult type [RCV002503282]|not provided [RCV001795766] Chr16:2091912 [GRCh38]
Chr16:2141913 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11156+1G>T single nucleotide variant Polycystic kidney disease, adult type [RCV002489837]|not provided [RCV001795728] Chr16:2092953 [GRCh38]
Chr16:2142954 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) microsatellite Polycystic kidney disease, adult type [RCV002478047]|not provided [RCV001816165] Chr16:2091442..2091443 [GRCh38]
Chr16:2141443..2141444 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10978G>A (p.Glu3660Lys) single nucleotide variant not provided [RCV001758417] Chr16:2093582 [GRCh38]
Chr16:2143583 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11156+2T>C single nucleotide variant Enlarged kidney [RCV001807676] Chr16:2092952 [GRCh38]
Chr16:2142953 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11261T>C (p.Leu3754Pro) single nucleotide variant Polycystic kidney disease, adult type [RCV001823448] Chr16:2092488 [GRCh38]
Chr16:2142489 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11016+1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844980] Chr16:2093543 [GRCh38]
Chr16:2143544 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001845002] Chr16:2091788 [GRCh38]
Chr16:2141789 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) deletion Polycystic kidney disease, adult type [RCV001782635] Chr16:2093884 [GRCh38]
Chr16:2143885 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001009944.3(PKD1):c.11270-1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001845012] Chr16:2092189 [GRCh38]
Chr16:2142190 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11178G>C (p.Trp3726Cys) single nucleotide variant not provided [RCV001837113] Chr16:2092571 [GRCh38]
Chr16:2142572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11155C>T (p.Arg3719Trp) single nucleotide variant Polycystic kidney disease, adult type [RCV002052123] Chr16:2092955 [GRCh38]
Chr16:2142956 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001845003]|Polycystic kidney disease, adult type [RCV002477881] Chr16:2091866 [GRCh38]
Chr16:2141867 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs) insertion Polycystic kidney disease, adult type [RCV002250238] Chr16:2094163..2094164 [GRCh38]
Chr16:2144164..2144165 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter) single nucleotide variant not provided [RCV002244351] Chr16:2092074 [GRCh38]
Chr16:2142075 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11501T>G (p.Leu3834Arg) single nucleotide variant not provided [RCV003123223] Chr16:2091817 [GRCh38]
Chr16:2141818 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs) deletion Polycystic kidney disease, adult type [RCV003120360] Chr16:2091838..2091851 [GRCh38]
Chr16:2141839..2141852 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln) single nucleotide variant not specified [RCV002248101] Chr16:2092509 [GRCh38]
Chr16:2142510 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10822-2A>G single nucleotide variant Polycystic kidney disease, adult type [RCV002273904] Chr16:2093740 [GRCh38]
Chr16:2143741 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) deletion Polycystic kidney disease, adult type [RCV002273027] Chr16:2091512 [GRCh38]
Chr16:2141513 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11246T>C (p.Leu3749Pro) single nucleotide variant not provided [RCV003149423] Chr16:2092503 [GRCh38]
Chr16:2142504 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10964del (p.Phe3655fs) deletion not provided [RCV003232022] Chr16:2093596 [GRCh38]
Chr16:2143597 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs) duplication Polycystic kidney disease, adult type [RCV002273905] Chr16:2092990..2092991 [GRCh38]
Chr16:2142991..2142992 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10700C>T (p.Ala3567Val) single nucleotide variant not provided [RCV002262500] Chr16:2093932 [GRCh38]
Chr16:2143933 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11017-25A>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003229570]|Polycystic kidney disease, adult type [RCV002273050] Chr16:2093118 [GRCh38]
Chr16:2143119 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001009944.3(PKD1):c.11135G>A (p.Arg3712Gln) single nucleotide variant Inborn genetic diseases [RCV003164400]|not provided [RCV002275752] Chr16:2092975 [GRCh38]
Chr16:2142976 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu) single nucleotide variant not provided [RCV002276391] Chr16:2092551 [GRCh38]
Chr16:2142552 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2047157_2220112del deletion Tuberous sclerosis 2 [RCV002267195] Chr16:2047157..2220112 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11116A>G (p.Lys3706Glu) single nucleotide variant Polycystic kidney disease, adult type [RCV002272704] Chr16:2092994 [GRCh38]
Chr16:2142995 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.1903155_2093402del deletion Tuberous sclerosis 2 [RCV002267197] Chr16:1903155..2093402 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter) single nucleotide variant not provided [RCV002273370] Chr16:2093974 [GRCh38]
Chr16:2143975 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11341_11346dup (p.Asp3782_Val3783insTyrAsp) duplication not provided [RCV002260786] Chr16:2092111..2092112 [GRCh38]
Chr16:2142112..2142113 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2066081_2241220del deletion Tuberous sclerosis 2 [RCV002267196] Chr16:2066081..2241220 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11623G>A (p.Ala3875Thr) single nucleotide variant Inborn genetic diseases [RCV003299980] Chr16:2091512 [GRCh38]
Chr16:2141513 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly) single nucleotide variant PKD1-related condition [RCV003984264]|Polycystic kidney disease, adult type [RCV002466940] Chr16:2092492 [GRCh38]
Chr16:2142493 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu) single nucleotide variant not provided [RCV002475275] Chr16:2091822 [GRCh38]
Chr16:2141823 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg) single nucleotide variant Polycystic kidney disease, adult type [RCV002471903] Chr16:2093847 [GRCh38]
Chr16:2143848 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11411+5G>A single nucleotide variant Polycystic kidney disease, adult type [RCV002471327] Chr16:2092042 [GRCh38]
Chr16:2142043 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val) single nucleotide variant not provided [RCV002475256] Chr16:2093600 [GRCh38]
Chr16:2143601 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11471del (p.Gly3824fs) deletion not provided [RCV002475262] Chr16:2091847 [GRCh38]
Chr16:2141848 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10822-3C>G single nucleotide variant Polycystic kidney disease, adult type [RCV002470587] Chr16:2093741 [GRCh38]
Chr16:2143742 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu) single nucleotide variant PKD1-related condition [RCV003418443]|not provided [RCV002300701] Chr16:2093980 [GRCh38]
Chr16:2143981 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11399C>T (p.Pro3800Leu) single nucleotide variant not provided [RCV002305900] Chr16:2092059 [GRCh38]
Chr16:2142060 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10663G>A (p.Ala3555Thr) single nucleotide variant not provided [RCV002305926] Chr16:2093969 [GRCh38]
Chr16:2143970 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro) single nucleotide variant Polycystic kidney disease, adult type [RCV002306251] Chr16:2091478 [GRCh38]
Chr16:2141479 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11254G>A (p.Val3752Met) single nucleotide variant Inborn genetic diseases [RCV002902128] Chr16:2092495 [GRCh38]
Chr16:2142496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11449G>A (p.Gly3817Arg) single nucleotide variant Inborn genetic diseases [RCV002848796] Chr16:2091869 [GRCh38]
Chr16:2141870 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11665G>T (p.Ala3889Ser) single nucleotide variant Inborn genetic diseases [RCV002924772] Chr16:2091470 [GRCh38]
Chr16:2141471 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs) deletion Inborn genetic diseases [RCV002763540] Chr16:2092116..2092159 [GRCh38]
Chr16:2142117..2142160 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10924C>A (p.Arg3642Ser) single nucleotide variant Inborn genetic diseases [RCV002893392] Chr16:2093636 [GRCh38]
Chr16:2143637 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10569C>A (p.Ser3523Arg) single nucleotide variant Inborn genetic diseases [RCV002850382] Chr16:2094141 [GRCh38]
Chr16:2144142 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10604G>C (p.Arg3535Thr) single nucleotide variant Inborn genetic diseases [RCV002874508] Chr16:2094106 [GRCh38]
Chr16:2144107 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11153C>T (p.Thr3718Met) single nucleotide variant Inborn genetic diseases [RCV002944848] Chr16:2092957 [GRCh38]
Chr16:2142958 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val) single nucleotide variant not specified [RCV003155756] Chr16:2094109 [GRCh38]
Chr16:2144110 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10764G>A (p.Trp3588Ter) single nucleotide variant not provided [RCV003225558] Chr16:2093868 [GRCh38]
Chr16:2143869 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter) single nucleotide variant Polycystic kidney disease, adult type [RCV003142374] Chr16:2091895 [GRCh38]
Chr16:2141896 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11600T>A (p.Val3867Asp) single nucleotide variant not provided [RCV003223919] Chr16:2091535 [GRCh38]
Chr16:2141536 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=) single nucleotide variant not provided [RCV003219021] Chr16:2093553 [GRCh38]
Chr16:2143554 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter) single nucleotide variant not provided [RCV003319620] Chr16:2092073 [GRCh38]
Chr16:2142074 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs) deletion Polycystic kidney disease, adult type [RCV003324649] Chr16:2091489..2091502 [GRCh38]
Chr16:2141490..2141503 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs) microsatellite Polycystic kidney disease, adult type [RCV003324603] Chr16:2091829..2091830 [GRCh38]
Chr16:2141830..2141831 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs) deletion Polycystic kidney disease, adult type [RCV003324627] Chr16:2092137..2092143 [GRCh38]
Chr16:2142138..2142144 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11404C>A (p.Leu3802Met) single nucleotide variant Inborn genetic diseases [RCV003265822] Chr16:2092054 [GRCh38]
Chr16:2142055 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser) single nucleotide variant Inborn genetic diseases [RCV003285019] Chr16:2094002 [GRCh38]
Chr16:2144003 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp) single nucleotide variant PKD1-related condition [RCV003397484] Chr16:2092501 [GRCh38]
Chr16:2142502 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10530G>A (p.Thr3510=) single nucleotide variant Inborn genetic diseases [RCV003354336] Chr16:2094180 [GRCh38]
Chr16:2144181 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11654T>G (p.Val3885Gly) single nucleotide variant not provided [RCV003395238] Chr16:2091481 [GRCh38]
Chr16:2141482 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11538-32C>T single nucleotide variant not provided [RCV003395239] Chr16:2091629 [GRCh38]
Chr16:2141630 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11319A>G (p.Ala3773=) single nucleotide variant not provided [RCV003395242] Chr16:2092139 [GRCh38]
Chr16:2142140 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu) single nucleotide variant Inborn genetic diseases [RCV003349789] Chr16:2092111 [GRCh38]
Chr16:2142112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10822-30_10852del deletion Polycystic kidney disease, adult type [RCV003494503] Chr16:2093708..2093768 [GRCh38]
Chr16:2143709..2143769 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11412-7_11468del deletion Polycystic kidney disease, adult type [RCV003494541] Chr16:2091850..2091913 [GRCh38]
Chr16:2141851..2141914 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11099_11101dup (p.Arg3700_Leu3701insArg) duplication PKD1-related condition [RCV003397482] Chr16:2093008..2093009 [GRCh38]
Chr16:2143009..2143010 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp) microsatellite Polycystic kidney disease, adult type [RCV003484540] Chr16:2092110..2092111 [GRCh38]
Chr16:2142111..2142112 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs) duplication PKD1-related condition [RCV003406072] Chr16:2092513..2092514 [GRCh38]
Chr16:2142514..2142515 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11397G>A (p.Ala3799=) single nucleotide variant not provided [RCV003395241] Chr16:2092061 [GRCh38]
Chr16:2142062 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11425G>C (p.Gly3809Arg) single nucleotide variant PKD1-related condition [RCV003402411] Chr16:2091893 [GRCh38]
Chr16:2141894 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11270-25_11316del deletion PKD1-related condition [RCV003397380] Chr16:2092142..2092213 [GRCh38]
Chr16:2142143..2142214 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp) single nucleotide variant PKD1-related condition [RCV003418912] Chr16:2093656 [GRCh38]
Chr16:2143657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11689C>T (p.Leu3897Phe) single nucleotide variant not provided [RCV003395237] Chr16:2091446 [GRCh38]
Chr16:2141447 [GRCh37]
Chr16:16p13.3		 benign
NM_001009944.3(PKD1):c.11187C>A (p.His3729Gln) single nucleotide variant not provided [RCV003395243] Chr16:2092562 [GRCh38]
Chr16:2142563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer) deletion PKD1-related condition [RCV003408415] Chr16:2091578..2091583 [GRCh38]
Chr16:2141579..2141584 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10619-2A>G single nucleotide variant PKD1-related condition [RCV003416872] Chr16:2094015 [GRCh38]
Chr16:2144016 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11385G>T (p.Trp3795Cys) single nucleotide variant not provided [RCV003443443] Chr16:2092073 [GRCh38]
Chr16:2142074 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11396C>T (p.Ala3799Val) single nucleotide variant PKD1-related condition [RCV003399792] Chr16:2092062 [GRCh38]
Chr16:2142063 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu) single nucleotide variant PKD1-related condition [RCV003406199] Chr16:2093689 [GRCh38]
Chr16:2143690 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11677C>G (p.Leu3893Val) single nucleotide variant PKD1-related condition [RCV003399875] Chr16:2091458 [GRCh38]
Chr16:2141459 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10969G>A (p.Ala3657Thr) single nucleotide variant PKD1-related condition [RCV003400169] Chr16:2093591 [GRCh38]
Chr16:2143592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11406G>A (p.Leu3802=) single nucleotide variant not provided [RCV003395240] Chr16:2092052 [GRCh38]
Chr16:2142053 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11036T>A (p.Leu3679His) single nucleotide variant PKD1-related condition [RCV003404473] Chr16:2093074 [GRCh38]
Chr16:2143075 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs) duplication Polycystic kidney disease, adult type [RCV003486481] Chr16:2092091..2092092 [GRCh38]
Chr16:2142092..2142093 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro) single nucleotide variant Polycystic kidney disease, adult type [RCV003486477] Chr16:2091799 [GRCh38]
Chr16:2141800 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10690C>T (p.Leu3564Phe) single nucleotide variant PKD1-related condition [RCV003896302] Chr16:2093942 [GRCh38]
Chr16:2143943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.10990G>A (p.Val3664Ile) single nucleotide variant PKD1-related condition [RCV003982651] Chr16:2093570 [GRCh38]
Chr16:2143571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11017-6C>G single nucleotide variant PKD1-related condition [RCV003983632] Chr16:2093099 [GRCh38]
Chr16:2143100 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11592C>T (p.His3864=) single nucleotide variant PKD1-related condition [RCV003934727] Chr16:2091543 [GRCh38]
Chr16:2141544 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=) single nucleotide variant PKD1-related condition [RCV003969701] Chr16:2091845 [GRCh38]
Chr16:2141846 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11541C>T (p.Ser3847=) single nucleotide variant PKD1-related condition [RCV003924435] Chr16:2091594 [GRCh38]
Chr16:2141595 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11677C>T (p.Leu3893Phe) single nucleotide variant PKD1-related condition [RCV003902034] Chr16:2091458 [GRCh38]
Chr16:2141459 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp) single nucleotide variant PKD1-related condition [RCV003983324] Chr16:2091892 [GRCh38]
Chr16:2141893 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs) duplication PKD1-related condition [RCV003897180] Chr16:2092071..2092072 [GRCh38]
Chr16:2142072..2142073 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs) deletion PKD1-related condition [RCV003914259] Chr16:2093594 [GRCh38]
Chr16:2143595 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001009944.3(PKD1):c.10692C>T (p.Leu3564=) single nucleotide variant PKD1-related condition [RCV003944225] Chr16:2093940 [GRCh38]
Chr16:2143941 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11205C>G (p.Val3735=) single nucleotide variant PKD1-related condition [RCV003899586] Chr16:2092544 [GRCh38]
Chr16:2142545 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11139C>T (p.Ala3713=) single nucleotide variant PKD1-related condition [RCV003946906] Chr16:2092971 [GRCh38]
Chr16:2142972 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001009944.3(PKD1):c.11411+4A>G single nucleotide variant Polycystic kidney disease, adult type [RCV003326195] Chr16:2092043 [GRCh38]
Chr16:2142044 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:860
Count of miRNA genes:560
Interacting mature miRNAs:653
Transcripts:ENST00000384982, ENST00000563284, ENST00000570072
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 201 148 42 6 10 8 16 5 404 6 108 42 1 15
Low 2176 1764 1386 452 828 293 3900 1628 2589 334 1304 1447 167 1064 2441 2
Below cutoff 50 645 258 140 472 139 402 527 623 74 33 102 2 129 307 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000563284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,091,539 - 2,095,433 (+)Ensembl
RefSeq Acc Id: ENST00000570072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,091,436 - 2,095,017 (+)Ensembl
RefSeq Acc Id: NR_135175
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,091,436 - 2,095,017 (+)NCBI
T2T-CHM13v2.0162,111,559 - 2,115,140 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC PKD1-AS1 COSMIC
Ensembl Genes ENSG00000259933 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000570072 ENTREZGENE
GTEx ENSG00000259933 GTEx
HGNC ID HGNC:56035 ENTREZGENE
Human Proteome Map PKD1-AS1 Human Proteome Map
NCBI Gene LOC105371049 ENTREZGENE
RNAcentral URS00001AB7B8 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-12-13 PKD1-AS1  PKD1 antisense RNA 1  AC009065.2  novel transcript, overlapping TSC2  Symbol and/or name change 19259463 PROVISIONAL
2020-08-20 AC009065.2  novel transcript, overlapping TSC2  AC009065.3  novel transcript, overlapping TSC2  Symbol and/or name change 19259462 PROVISIONAL
2020-06-25 AC009065.3  novel transcript, overlapping TSC2  LOC105371049  uncharacterized LOC105371049  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC105371049  uncharacterized LOC105371049  AC009065.3  novel transcript, overlapping TSC2  Symbol and/or name change 5135510 APPROVED
2020-02-07 AC009065.3  novel transcript, overlapping TSC2  AC009065.2  novel transcript, overlapping TSC2  Symbol and/or name change 19259462 PROVISIONAL