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Autosomal Recessive Polycystic Kidney Disease

From SNPedia

Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 gene on chromosome 6 cause ARPKD; the classic presentation for ARPKD is systemic hypertension with progression to end-stage renal disease (ESRD) by the age of 15.Wikipedia

Mutations considered pathogenic for autosomal recessive polycystic kidney disease include:

rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs746471701 i6016815 c.11524C>T (p.Arg3842Ter) Ancestry v2
rs794727819 i6016630 c.10664T>A (p.Ile3555Lys)
rs137852948 i5007345 c.10658T>C (p.Ile3553Thr) 606702.0006 Ancestry v2
rs770461067 c.10637delT (p.Val3546Alafs)
rs771623148 c.10452dupT (p.Leu3485Serfs)
rs148617572 i5000048 c.10444C>T (p.Arg3482Cys) Ancestry v2
rs137852950 i5000042 c.10412T>G (p.Val3471Gly) 606702.0008 Ancestry v2
rs748863662 i6016604 c.10402A>G (p.Ile3468Val)
rs781368899 c.10219C>T (p.Gln3407Ter)
rs201082169 i5000046 c.10174C>T (p.Gln3392Ter)
rs149798764 i6016719 c.10036T>C (p.Cys3346Arg)
rs398124475 i6016851 c.10031T>G (p.Leu3344Ter) Ancestry v2
rs398124502 i5012610 c.9689delA (p.Asp3230Valfs) Ancestry v2
rs797045101 c.9559delT (p.Ser3187Leufs)
rs200511261 i5000043, i6016654 c.9530T>C (p.Ile3177Thr)
rs786204688 i6016692 c.9319C>T (p.Arg3107Ter)
rs142146981 i6016603 c.9241A>G (p.Ile3081Val)
rs137852945 i6016818 c.9053C>T (p.Ser3018Phe) 606702.0003 Ancestry v2
rs760222236 i5000045 c.8870T>C (p.Ile2957Thr)
rs398124500 i6016690 c.8824C>T (p.Arg2942Ter) Ancestry v2
rs398124496 c.8408G>A (p.Cys2803Tyr) Ancestry v2
rs398124495 i6016643 c.8407T>C (p.Cys2803Arg) Ancestry v2
rs786204241 c.8303-1G>A
rs137852947 i5007344 c.8011C>T (p.Arg2671Ter) 606702.0005 Ancestry v2
rs181208607 i6016800 c.7916C>A (p.Ser2639Ter) Ancestry v2
rs797044745 c.7719dupT (p.Met2574Tyrfs)
rs863224528 c.7560dupT (p.Ala2521Cysfs)
rs201881567 i6016642 c.7264T>G (p.Cys2422Gly)
rs794727680 c.7194G>A (p.Trp2398Ter)
rs200179145 i6016629 c.6992T>A (p.Ile2331Lys)
rs368263958 c.6499C>T (p.Gln2167Ter) Ancestry v2
rs180675584 c.5912G>A (p.Gly1971Asp)
rs746838237 c.5895dupA (p.Leu1966Thrfs)
rs771180444 c.5879_5880delCA (p.Thr1960Lysfs)
rs777999875 i6016785 c.5513A>G (p.Tyr1838Cys)
rs794727572 c.5325_5326delAG (p.Val1776Profs)
rs398124487 c.5236+1G>A Ancestry v2
rs137852946 i5900581 c.5221G>A (p.Val1741Met) 606702.0004 Ancestry v2
rs797044607 c.5023delG (p.Ala1675Profs)
rs28937907 rs28937907 c.4991C>T (p.Ser1664Phe) 606702.0002 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
rs200391019 c.4870C>T (p.Arg1624Trp)
rs727504087 c.4733delA (p.Tyr1578Phefs)
rs398124486 c.4415delGinsTATTCCCC (p.Cys1472Leufs)
rs746972457 c.3766delC (p.Gln1256Argfs)
rs398124484 c.3761_3762delCCinsG (p.Ala1254Glyfs) Ancestry v2
rs748540413 c.3747T>G (p.Cys1249Trp)
rs797044713 c.3528dupC (p.Ser1177Leufs)
rs142107837 i6016714 c.3367G>A (p.Gly1123Ser) Ancestry v2
rs786205582 c.2978A>G (p.His993Arg)
rs773136605 i6016707 c.2854G>A (p.Gly952Arg)
rs398124481 c.2827_2828delGA (p.Asp943Hisfs)
rs786204707 i6016828 c.2810G>A (p.Trp937Ter)
rs727504089 c.2725C>T (p.Arg909Ter) Ancestry v2
rs398124480 c.2452C>T (p.Gln818Ter) Ancestry v2
rs199531851 i5000044 c.2414C>T (p.Pro805Leu)
rs398124479 c.2407+1G>A Ancestry v2
rs398124478 i6016614 c.2341C>T (p.Arg781Ter) Ancestry v2
rs745770404 i6016706 c.2279G>A (p.Arg760His) Ancestry v2
rs777183511 i6016673 c.2269A>C (p.Ile757Leu)
rs786204696 i6016638 c.1880T>A (p.Met627Lys)
rs749293235 c.1830T>A (p.Tyr610Ter) Ancestry v2
rs398124477 c.1694-1G>A Ancestry v2
rs398124476 c.1602+1G>A Ancestry v2
rs137852949 i5000041, i5012612 c.1486C>T (p.Arg496Ter) 606702.0007 Ancestry v2
rs754392766 i6016687 c.1480C>T (p.Arg494Ter) Ancestry v2
rs786204749 i6016787 c.1458C>A (p.Tyr486Ter)
rs398124503 i6016808 c.982C>T (p.Arg328Ter) Ancestry v2
rs398124501 c.930delC (p.Thr311Leufs) Ancestry v2
rs794727037 c.765C>G (p.Tyr255Ter)
rs786204588 c.711_714delAATG (p.Met238Serfs)
rs398124491 c.682A>G (p.Ser228Gly) Ancestry v2
rs369925690 i5000047 c.664A>G (p.Ile222Val)
rs189345248 c.657C>T (p.Arg219Arg)
rs398124485 c.391-1G>C Ancestry v2
rs868562051 c.383delC (p.Thr128IlefsX25)
rs727504096 c.370C>T (p.Arg124Ter) Ancestry v2
rs398124483 c.353delG (p.Ser118Ilefs) Ancestry v2
rs137852944 i5012611, rs28939383 c.107C>T (p.Thr36Met) 606701.0001 Ancestry v2
rs398124498 c.85G>T (p.Glu29Ter) Ancestry v2
rs755654557 i6016737 c.50C>T (p.Ala17Val)


An additional resource beyond ClinVar for PKHD1 mutations and their association with autosomal recessive polycystic kidney disease is the RWTH-Aachen ARKPD/PKHD1 database.