Autosomal Recessive Polycystic Kidney Disease

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, Ancestry v2c, Ancestry v2d
rs794727819	i6016630	c.10664T>A (p.Ile3555Lys)		Ancestry v2c, Ancestry v2d
rs137852948	i5007345	c.10658T>C (p.Ile3553Thr)	606702.0006	Ancestry v2, Ancestry v2c, Ancestry v2d
rs770461067		c.10637delT (p.Val3546Alafs)		Ancestry v2c, Ancestry v2d
rs771623148		c.10452dupT (p.Leu3485Serfs)		Ancestry v2c, Ancestry v2d
rs148617572	i5000048	c.10444C>T (p.Arg3482Cys)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs137852950	i5000042	c.10412T>G (p.Val3471Gly)	606702.0008	Ancestry v2, Ancestry v2c, Ancestry v2d
rs748863662	i6016604	c.10402A>G (p.Ile3468Val)
rs781368899		c.10219C>T (p.Gln3407Ter)		23andMe v5, Ancestry v2c, Ancestry v2d
rs201082169	i5000046	c.10174C>T (p.Gln3392Ter)
rs149798764	i6016719	c.10036T>C (p.Cys3346Arg)
rs398124475	i6016851	c.10031T>G (p.Leu3344Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs398124502	i5012610	c.9689delA (p.Asp3230Valfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs797045101		c.9559delT (p.Ser3187Leufs)		23andMe v5, Ancestry v2c, Ancestry v2d
rs200511261	i5000043, i6016654	c.9530T>C (p.Ile3177Thr)		Ancestry v2c, Ancestry v2d
rs786204688	i6016692	c.9319C>T (p.Arg3107Ter)		Ancestry v2c, Ancestry v2d
rs142146981	i6016603	c.9241A>G (p.Ile3081Val)
rs137852945	i6016818	c.9053C>T (p.Ser3018Phe)	606702.0003	Ancestry v2, Ancestry v2c, Ancestry v2d
rs760222236	i5000045	c.8870T>C (p.Ile2957Thr)		Ancestry v2c, Ancestry v2d
rs398124500	i6016690	c.8824C>T (p.Arg2942Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs398124496		c.8408G>A (p.Cys2803Tyr)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs398124495	i6016643	c.8407T>C (p.Cys2803Arg)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs786204241		c.8303-1G>A		23andMe v5, Ancestry v2c, Ancestry v2d
rs137852947	i5007344	c.8011C>T (p.Arg2671Ter)	606702.0005	Ancestry v2, Ancestry v2c, Ancestry v2d
rs181208607	i6016800	c.7916C>A (p.Ser2639Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs797044745		c.7719dupT (p.Met2574Tyrfs)		23andMe v5, Ancestry v2c, Ancestry v2d
rs863224528		c.7560dupT (p.Ala2521Cysfs)		23andMe v5, Ancestry v2c, Ancestry v2d
rs201881567	i6016642	c.7264T>G (p.Cys2422Gly)
rs794727680		c.7194G>A (p.Trp2398Ter)		23andMe v5, Ancestry v2c, Ancestry v2d
rs200179145	i6016629	c.6992T>A (p.Ile2331Lys)		Ancestry v2c, Ancestry v2d
rs368263958		c.6499C>T (p.Gln2167Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs180675584		c.5912G>A (p.Gly1971Asp)		23andMe v5, Ancestry v2c, Ancestry v2d
rs746838237		c.5895dupA (p.Leu1966Thrfs)		Ancestry v2c, Ancestry v2d
rs771180444		c.5879_5880delCA (p.Thr1960Lysfs)		Ancestry v2c, Ancestry v2d
rs777999875	i6016785	c.5513A>G (p.Tyr1838Cys)		Ancestry v2c, Ancestry v2d
rs794727572		c.5325_5326delAG (p.Val1776Profs)		23andMe v5, Ancestry v2d
rs398124487		c.5236+1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs137852946	i5900581	c.5221G>A (p.Val1741Met)	606702.0004	Ancestry v2, Ancestry v2c, Ancestry v2d
rs797044607		c.5023delG (p.Ala1675Profs)		23andMe v5, Ancestry v2c, Ancestry v2d
rs28937907	rs28937907	c.4991C>T (p.Ser1664Phe)	606702.0002	23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, 23andMe v1, 23andMe v2, Ancestry v2d
rs200391019		c.4870C>T (p.Arg1624Trp)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs727504087		c.4733delA (p.Tyr1578Phefs)
rs398124486		c.4415delGinsTATTCCCC (p.Cys1472Leufs)		23andMe v5
rs746972457		c.3766delC (p.Gln1256Argfs)		Ancestry v2d
rs398124484		c.3761_3762delCCinsG (p.Ala1254Glyfs)		Ancestry v2, Ancestry v2d
rs748540413		c.3747T>G (p.Cys1249Trp)
rs797044713		c.3528dupC (p.Ser1177Leufs)		23andMe v5, Ancestry v2c, Ancestry v2d
rs142107837	i6016714	c.3367G>A (p.Gly1123Ser)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs786205582		c.2978A>G (p.His993Arg)		23andMe v5, Ancestry v2c, Ancestry v2d
rs773136605	i6016707	c.2854G>A (p.Gly952Arg)		Ancestry v2c, Ancestry v2d
rs398124481		c.2827_2828delGA (p.Asp943Hisfs)
rs786204707	i6016828	c.2810G>A (p.Trp937Ter)		Ancestry v2d
rs727504089		c.2725C>T (p.Arg909Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs398124480		c.2452C>T (p.Gln818Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs199531851	i5000044	c.2414C>T (p.Pro805Leu)		Ancestry v2c, Ancestry v2d
rs398124479		c.2407+1G>A		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs398124478	i6016614	c.2341C>T (p.Arg781Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs745770404	i6016706	c.2279G>A (p.Arg760His)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs777183511	i6016673	c.2269A>C (p.Ile757Leu)
rs786204696	i6016638	c.1880T>A (p.Met627Lys)		Ancestry v2c, Ancestry v2d
rs749293235		c.1830T>A (p.Tyr610Ter)		Ancestry v2, Ancestry v2d
rs398124477		c.1694-1G>A		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs398124476		c.1602+1G>A		Ancestry v2, 23andMe v5, Ancestry v2d
rs137852949	i5000041, i5012612	c.1486C>T (p.Arg496Ter)	606702.0007	Ancestry v2, Ancestry v2c, Ancestry v2d
rs754392766	i6016687	c.1480C>T (p.Arg494Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs786204749	i6016787	c.1458C>A (p.Tyr486Ter)		Ancestry v2c, Ancestry v2d
rs398124503	i6016808	c.982C>T (p.Arg328Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs398124501		c.930delC (p.Thr311Leufs)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs794727037		c.765C>G (p.Tyr255Ter)		Ancestry v2d
rs786204588		c.711_714delAATG (p.Met238Serfs)		Ancestry v2c, Ancestry v2d
rs398124491		c.682A>G (p.Ser228Gly)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs369925690	i5000047	c.664A>G (p.Ile222Val)		Ancestry v2c, Ancestry v2d
rs189345248		c.657C>T (p.Arg219Arg)
rs398124485		c.391-1G>C		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs868562051		c.383delC (p.Thr128IlefsX25)
rs727504096		c.370C>T (p.Arg124Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs398124483		c.353delG (p.Ser118Ilefs)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs137852944	i5012611, rs28939383	c.107C>T (p.Thr36Met)	606701.0001	Ancestry v2, Ancestry v2c, Ancestry v2d
rs398124498		c.85G>T (p.Glu29Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
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.