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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Polycystic Kidney, Autosomal Recessive (D017044)
Child Nodes:
........Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
........Polycystic kidneys, severe infantile with tuberous sclerosis (C536328)
........Renal dysplasia diffuse cystic (C537755)
Sister Nodes:
..Arima syndrome (C537430)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Daneman Davy Mancer syndrome (C535986)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Polycystic kidney disease, type 1 (C536326)
..Polycystic Kidney, Autosomal Dominant (D016891) 3
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Potter Type III Polycystic Kidney Disease (C566792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9058

Name:

Polycystic Kidney, Autosomal Recessive

Definition:

A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.

Alternative IDs:

OMIM:263200

ParentIDs:

MESH:D007690|MESH:D030342

TreeNumbers:

C12.777.419.403.875.510 |C13.351.968.419.403.875.510 |C16.320.793

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D017044
MeSH: D017044
OMIM: 263200;

Genes: PKHD1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005564	Absence of renal corticomedullary differentiation
3	HP:0001944	Dehydration
4	HP:0000105	Enlarged kidney
5	HP:0002040	Esophageal varix
6	HP:0001407	Hepatic cysts
7	HP:0002240	Hepatomegaly
8	HP:0003811	Neonatal death	HP:0040283
9	HP:0001562	Oligohydramnios
10	HP:0001737	Pancreatic cysts
11	HP:0001405	Periportal fibrosis
12	HP:0000113	Polycystic kidney dysplasia
13	HP:0001409	Portal hypertension
14	HP:0002009	Potter facies
15	HP:0002089	Pulmonary hypoplasia
16	HP:0000107	Renal cyst
17	HP:0000083	Renal insufficiency
18	HP:0001744	Splenomegaly
19	HP:0005576	Tubulointerstitial fibrosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_138694.3(PKHD1):c.12110T>C (p.Leu4037Pro)	5314	PKHD1	Uncertain significance	199900211	RCV000198885;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51483994	51483994	NM_138694.3:c.12110T>C	NP_619639.3:p.Leu4037Pro	NC_000006.11:g.51483994A>G	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.11524C>T (p.Arg3842Ter)	5314	PKHD1	Likely pathogenic	746471701	RCV000169068;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51497504	51497504	NM_138694.3:c.11524C>T	NP_619639.3:p.Arg3842Ter	NC_000006.11:g.51497504G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.11338C>T (p.Pro3780Ser)	5314	PKHD1	Uncertain significance	41273722	RCV000197705;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51512889	51512889	NM_138694.3:c.11338C>T	NP_619639.3:p.Pro3780Ser	NC_000006.11:g.51512889G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10664T>A (p.Ile3555Lys)	5314	PKHD1	Likely pathogenic	794727819	RCV000179598;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51524260	51524260	NM_138694.3:c.10664T>A	NP_619639.3:p.Ile3555Lys	NC_000006.11:g.51524260A>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10658T>C (p.Ile3553Thr)	5314	PKHD1	Pathogenic	137852948	RCV000004329;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51524266	51524266	NM_138694.3:c.10658T>C	NP_619639.3:p.Ile3553Thr	NC_000006.11:g.51524266A>G	OMIM Allelic Variant:606702.0006	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10585G>C (p.Glu3529Gln)	5314	PKHD1	Benign;Likely benign	145184792	RCV000169285; RCV000082516;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51524339	51524339	NM_138694.3:c.10585G>C	NP_619639.3:p.Glu3529Gln	NC_000006.11:g.51524339C>G	HGMD:CM032338	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10515C>A (p.Ser3505Arg)	5314	PKHD1	Benign	139014478	RCV000204345; RCV000153702;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51524409	51524409	NM_138694.3:c.10515C>A	NP_619639.3:p.Ser3505Arg	NC_000006.11:g.51524409G>T	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10452dupT (p.Leu3485Serfs)	5314	PKHD1	Likely pathogenic	771623148	RCV000169490;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51524472	51524472	NM_138694.3:c.10452dupT	NP_619639.3:p.Leu3485Serfs	NC_000006.11:g.51524472dupA	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10444C>T (p.Arg3482Cys)	5314	PKHD1	Likely pathogenic	148617572	RCV000169255;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51524480	51524480	NM_138694.3:c.10444C>T	NP_619639.3:p.Arg3482Cys	NC_000006.11:g.51524480G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10412T>G (p.Val3471Gly)	5314	PKHD1	Pathogenic	137852950	RCV000004331;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51524512	51524512	NM_138694.3:c.10412T>G	NP_619639.3:p.Val3471Gly	NC_000006.11:g.51524512A>C	OMIM Allelic Variant:606702.0008	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10219C>T (p.Gln3407Ter)	5314	PKHD1	Pathogenic	781368899	RCV000179595;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51524705	51524705	NM_138694.3:c.10219C>T	NP_619639.3:p.Gln3407Ter	NC_000006.11:g.51524705G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10036T>C (p.Cys3346Arg)	5314	PKHD1	Uncertain significance	149798764	RCV000195797; RCV000179584;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51609303	51609303	NM_138694.3:c.10036T>C	NP_619639.3:p.Cys3346Arg	NC_000006.11:g.51609303A>G	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.10031T>G (p.Leu3344Ter)	5314	PKHD1	Pathogenic	398124475	RCV000179585; RCV000082514;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51609308	51609308	NM_138694.3:c.10031T>G	NP_619639.3:p.Leu3344Ter	NC_000006.11:g.51609308A>C	HGMD:CM054821	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9866G>T (p.Ser3289Ile)	5314	PKHD1	Likely benign;Uncertain significance	148932323	RCV000169100; RCV000153703;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51611651	51611651	NM_138694.3:c.9866G>T	NP_619639.3:p.Ser3289Ile	NC_000006.11:g.51611651C>A	HGMD:CM051184	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9788T>C (p.Val3263Ala)	5314	PKHD1	Uncertain significance	146519878	RCV000196023; RCV000153705;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51612626	51612626	NM_138694.3:c.9788T>C	NP_619639.3:p.Val3263Ala	NC_000006.11:g.51612626A>G	HGMD:CM052349	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9719G>T (p.Arg3240Leu)	5314	PKHD1	Likely pathogenic;Uncertain significance	146649803	RCV000200664; RCV000153706;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51612695	51612695	NM_138694.3:c.9719G>T	NP_619639.3:p.Arg3240Leu	NC_000006.11:g.51612695C>A	HGMD:CM051181	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9689delA (p.Asp3230Valfs)	5314	PKHD1	Pathogenic	398124502	RCV000179217; RCV000082594;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51612725	51612725	NM_138694.3:c.9689delA	NP_619639.3:p.Asp3230Valfs	NC_000006.11:g.51612725delT	HGMD:CD032488	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9577G>A (p.Val3193Ile)	5314	PKHD1	Benign	35445653	RCV000204043;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51612837	51612837	NM_138694.3:c.9577G>A	NP_619639.3:p.Val3193Ile	NC_000006.11:g.51612837C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9559delT (p.Ser3187Leufs)	5314	PKHD1	Pathogenic	797045101	RCV000190615;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51612855	51612855	NM_138694.3:c.9559delT	NP_619639.3:p.Ser3187Leufs		-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9492C>T (p.Ser3164=)	5314	PKHD1	Benign;Likely benign	17752991	RCV000169283; RCV000082593;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51612922	51612922	NM_138694.3:c.9492C>T	NP_619639.3:p.Ser3164=	NC_000006.11:g.51612922G>A	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9415G>T (p.Asp3139Tyr)	5314	PKHD1	Benign;Likely benign	45503297	RCV000169053; RCV000153707;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51612999	51612999	NM_138694.3:c.9415G>T	NP_619639.3:p.Asp3139Tyr	NC_000006.11:g.51612999C>A	HGMD:CM020960	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9319C>T (p.Arg3107Ter)	5314	PKHD1	Likely pathogenic;Pathogenic	786204688	RCV000169496;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51613095	51613095	NM_138694.3:c.9319C>T	NP_619639.3:p.Arg3107Ter	NC_000006.11:g.51613095G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.9053C>T (p.Ser3018Phe)	5314	PKHD1	Pathogenic	137852945	RCV000004326;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51613361	51613361	NM_138694.3:c.9053C>T	NP_619639.3:p.Ser3018Phe	NC_000006.11:g.51613361G>A	OMIM Allelic Variant:606702.0003	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8824C>T (p.Arg2942Ter)	5314	PKHD1	Likely pathogenic;Pathogenic	398124500	RCV000169555; RCV000082589;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51618125	51618125	NM_138694.3:c.8824C>T	NP_619639.3:p.Arg2942Ter	NC_000006.11:g.51618125G>A	HGMD:CM100553	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8606C>A (p.Thr2869Lys)	5314	PKHD1	Benign;Likely benign	142522748	RCV000169042; RCV000082586;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51637536	51637536	NM_138694.3:c.8606C>A	NP_619639.3:p.Thr2869Lys	NC_000006.11:g.51637536G>T	HGMD:CM032328	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8581A>G (p.Ser2861Gly)	5314	PKHD1	Benign	150925674	RCV000197457;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51637561	51637561	NM_138694.3:c.8581A>G	NP_619639.3:p.Ser2861Gly	NC_000006.11:g.51637561T>C	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8521A>G (p.Met2841Val)	5314	PKHD1	Benign;Likely benign	113562492	RCV000169052; RCV000179159;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51640639	51640639	NM_138694.3:c.8521A>G	NP_619639.3:p.Met2841Val	NC_000006.11:g.51640639T>C	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8408G>A (p.Cys2803Tyr)	5314	PKHD1	Likely pathogenic	398124496	RCV000179136; RCV000082583;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51656066	51656066	NM_138694.3:c.8408G>A	NP_619639.3:p.Cys2803Tyr	NC_000006.11:g.51656066C>T	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8407T>C (p.Cys2803Arg)	5314	PKHD1	Likely pathogenic	398124495	RCV000179135; RCV000082582;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51656067	51656067	NM_138694.3:c.8407T>C	NP_619639.3:p.Cys2803Arg	NC_000006.11:g.51656067A>G	HGMD:CM100412	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8303-1G>A	5314	PKHD1	Pathogenic	786204241	RCV000168405;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51656172	51656172	NM_138694.3:c.8303-1G>A		NC_000006.11:g.51656172C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.8011C>T (p.Arg2671Ter)	5314	PKHD1	Pathogenic	137852947	RCV000004328;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51712669	51712669	NM_138694.3:c.8011C>T	NP_619639.3:p.Arg2671Ter	NC_000006.11:g.51712669G>A	OMIM Allelic Variant:606702.0005	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7921A>G (p.Thr2641Ala)	5314	PKHD1	Benign;Likely benign	7766366	RCV000169040; RCV000082576;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51712759	51712759	NM_138694.3:c.7921A>G	NP_619639.3:p.Thr2641Ala	NC_000006.11:g.51712759T>C	HGMD:CM034276	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7916C>A (p.Ser2639Ter)	5314	PKHD1	Likely pathogenic	181208607	RCV000169564;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51712764	51712764	NM_138694.3:c.7916C>A	NP_619639.3:p.Ser2639Ter	NC_000006.11:g.51712764G>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7912-5T>G	5314	PKHD1	Likely benign;Uncertain significance	371510537	RCV000206771; RCV000082575;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51712773	51712773	NM_138694.3:c.7912-5T>G		NC_000006.11:g.51712773A>C	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7719dupT (p.Met2574Tyrfs)	5314	PKHD1	Pathogenic	797044745	RCV000178675;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51732675	51732675	NM_138694.3:c.7719dupT	NP_619639.3:p.Met2574Tyrfs	NC_000006.11:g.51732675dupA	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7560dupT (p.Ala2521Cysfs)	5314	PKHD1	Pathogenic	863224528	RCV000200756;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51732834	51732834	NM_138694.3:c.7560dupT	NP_619639.3:p.Ala2521Cysfs	NC_000006.11:g.51732834dupA	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7194G>A (p.Trp2398Ter)	5314	PKHD1	Pathogenic	794727680	RCV000178588;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51750686	51750686	NM_138694.3:c.7194G>A	NP_619639.3:p.Trp2398Ter	NC_000006.11:g.51750686C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.7110-7T>A	5314	PKHD1	Benign	113034899	RCV000205026; RCV000178589;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51750777	51750777	NM_138694.3:c.7110-7T>A		NC_000006.11:g.51750777A>T	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.6996G>A (p.Glu2332=)	5314	PKHD1	Uncertain significance	775831255	RCV000206564;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51768395	51768395	NM_138694.3:c.6996G>A	NP_619639.3:p.Glu2332=	NC_000006.11:g.51768395C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys)	5314	PKHD1	Likely pathogenic	200179145	RCV000169149;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51768399	51768399	NM_138694.3:c.6992T>A	NP_619639.3:p.Ile2331Lys	NC_000006.11:g.51768399A>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.6854G>A (p.Gly2285Glu)	5314	PKHD1	Uncertain significance	142526715	RCV000178511;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51768795	51768795	NM_138694.3:c.6854G>A	NP_619639.3:p.Gly2285Glu	NC_000006.11:g.51768795C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.6499C>T (p.Gln2167Ter)	5314	PKHD1	Pathogenic	368263958	RCV000178448; RCV000153713;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51774264	51774264	NM_138694.3:c.6499C>T	NP_619639.3:p.Gln2167Ter	NC_000006.11:g.51774264G>A	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5895dupA (p.Leu1966Thrfs)	5314	PKHD1	Pathogenic	746838237	RCV000177889; RCV000153714;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51824681	51824681	NM_138694.3:c.5895dupA	NP_619639.3:p.Leu1966Thrfs	NC_000006.11:g.51824681dupT	HGMD:CI020613	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5879_5880delCA (p.Thr1960Lysfs)	5314	PKHD1	Pathogenic	771180444	RCV000177891;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51824696	51824697	NM_138694.3:c.5879_5880delCA	NP_619639.3:p.Thr1960Lysfs	NC_000006.11:g.51824696_51824697delTG	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5725C>T (p.Arg1909Trp)	5314	PKHD1	Benign;Likely benign	115338476	RCV000169055; RCV000082561;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51875133	51875133	NM_138694.3:c.5725C>T	NP_619639.3:p.Arg1909Trp	NC_000006.11:g.51875133G>A	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5642C>A (p.Ser1881Tyr)	5314	PKHD1	Uncertain significance	864622533	RCV000204036;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51875216	51875216	NM_138694.3:c.5642C>A	NP_619639.3:p.Ser1881Tyr	NC_000006.11:g.51875216G>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5587G>T (p.Gly1863Cys)	5314	PKHD1	Uncertain significance	776275341	RCV000205421;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51882221	51882221	NM_138694.3:c.5587G>T	NP_619639.3:p.Gly1863Cys	NC_000006.11:g.51882221C>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5325_5326delAG (p.Val1776Profs)	5314	PKHD1	Pathogenic	794727572	RCV000177755;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51887653	51887654	NM_138694.3:c.5325_5326delAG	NP_619639.3:p.Val1776Profs	NC_000006.11:g.51887653_51887654delCT	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5236+1G>A	5314	PKHD1	Pathogenic	398124487	RCV000177669; RCV000082556;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51889371	51889371	NM_138694.3:c.5236+1G>A		NC_000006.11:g.51889371C>T	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.5221G>A (p.Val1741Met)	5314	PKHD1	Pathogenic;Uncertain significance	137852946	RCV000004327; RCV000153715;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51889387	51889387	NM_138694.3:c.5221G>A	NP_619639.3:p.Val1741Met	NC_000006.11:g.51889387C>T	HGMD:CM020495,OMIM Allelic Variant:606702.0004	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.4991C>T (p.Ser1664Phe)	5314	PKHD1	Pathogenic	28937907	RCV000004325;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51889617	51889617	NM_138694.3:c.4991C>T	NP_619639.3:p.Ser1664Phe	NC_000006.11:g.51889617G>A	OMIM Allelic Variant:606702.0002	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp)	5314	PKHD1	Likely pathogenic;Pathogenic	200391019	RCV000168407;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51889738	51889738	NM_138694.3:c.4870C>T	NP_619639.3:p.Arg1624Trp	NC_000006.11:g.51889738G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.4733delA (p.Tyr1578Phefs)	5314	PKHD1	Pathogenic	727504087	RCV000177668; RCV000153716;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51889875	51889875	NM_138694.3:c.4733delA	NP_619639.3:p.Tyr1578Phefs	NC_000006.11:g.51889875delT	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.4415delGinsTATTCCCC (p.Cys1472Leufs)	5314	PKHD1	Pathogenic	398124486	RCV000177670; RCV000082554;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51890193	51890193	NM_138694.3:c.4415delGinsTATTCCCC	NP_619639.3:p.Cys1472Leufs	NC_000006.11:g.51890193delCinsGGGGAATA	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.4035C>A (p.Gly1345=)	5314	PKHD1	Benign	140791735	RCV000206497; RCV000177672;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51890573	51890573	NM_138694.3:c.4035C>A	NP_619639.3:p.Gly1345=	NC_000006.11:g.51890573G>T	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.3890C>T (p.Ala1297Val)	5314	PKHD1	Uncertain significance	747436583	RCV000167990;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51890718	51890718	NM_138694.3:c.3890C>T	NP_619639.3:p.Ala1297Val	NC_000006.11:g.51890718G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.3766delC (p.Gln1256Argfs)	5314	PKHD1	Likely pathogenic	746972457	RCV000169060;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51890842	51890842	NM_138694.3:c.3766delC	NP_619639.3:p.Gln1256Argfs	NC_000006.11:g.51890842delG	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.3761_3762delCCinsG (p.Ala1254Glyfs)	5314	PKHD1	Likely pathogenic;Pathogenic	398124484	RCV000169008; RCV000082548;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51890846	51890847	NM_138694.3:c.3761_3762delCCinsG	NP_619639.3:p.Ala1254Glyfs	NC_000006.11:g.51890846_51890847delGGinsC	HGMD:CX021043	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.3528dupC (p.Ser1177Leufs)	5314	PKHD1	Pathogenic	797044713	RCV000177479;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51892986	51892986	NM_138694.3:c.3528dupC	NP_619639.3:p.Ser1177Leufs	NC_000006.11:g.51892986dupG	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.3407A>G (p.Tyr1136Cys)	5314	PKHD1	Benign;Likely benign	41273726	RCV000168029; RCV000153718;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51893107	51893107	NM_138694.3:c.3407A>G	NP_619639.3:p.Tyr1136Cys	NC_000006.11:g.51893107T>C	HGMD:CM051142	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.3367G>A (p.Gly1123Ser)	5314	PKHD1	Likely pathogenic	142107837	RCV000169334;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51893147	51893147	NM_138694.3:c.3367G>A	NP_619639.3:p.Gly1123Ser	NC_000006.11:g.51893147C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2854G>A (p.Gly952Arg)	5314	PKHD1	Pathogenic	773136605	RCV000176777;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51907900	51907900	NM_138694.3:c.2854G>A	NP_619639.3:p.Gly952Arg	NC_000006.11:g.51907900C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2827_2828delGA (p.Asp943Hisfs)	5314	PKHD1	Pathogenic	398124481	RCV000176775; RCV000082542;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51907926	51907927	NM_138694.3:c.2827_2828delGA	NP_619639.3:p.Asp943Hisfs	NC_000006.11:g.51907926_51907927delTC	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2810G>A (p.Trp937Ter)	5314	PKHD1	Likely pathogenic	786204707	RCV000169522;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51908434	51908434	NM_138694.3:c.2810G>A	NP_619639.3:p.Trp937Ter	NC_000006.11:g.51908434C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2726G>A (p.Arg909Gln)	5314	PKHD1	Likely benign	201753421	RCV000197522;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51908518	51908518	NM_138694.3:c.2726G>A	NP_619639.3:p.Arg909Gln	NC_000006.11:g.51908518C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2725C>T (p.Arg909Ter)	5314	PKHD1	Pathogenic	727504089	RCV000176696; RCV000153720;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51908519	51908519	NM_138694.3:c.2725C>T	NP_619639.3:p.Arg909Ter	NC_000006.11:g.51908519G>A	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2452C>T (p.Gln818Ter)	5314	PKHD1	Pathogenic	398124480	RCV000176504; RCV000082540;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51910942	51910942	NM_138694.3:c.2452C>T	NP_619639.3:p.Gln818Ter	NC_000006.11:g.51910942G>A	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2407+1G>A	5314	PKHD1	Pathogenic	398124479	RCV000176434; RCV000082539;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51913289	51913289	NM_138694.3:c.2407+1G>A		NC_000006.11:g.51913289C>T	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2341C>T (p.Arg781Ter)	5314	PKHD1	Pathogenic	398124478	RCV000176433; RCV000082537;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51913356	51913356	NM_138694.3:c.2341C>T	NP_619639.3:p.Arg781Ter	NC_000006.11:g.51913356G>A	HGMD:CM051135	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2279G>A (p.Arg760His)	5314	PKHD1	Likely pathogenic	745770404	RCV000169230;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51914955	51914955	NM_138694.3:c.2279G>A	NP_619639.3:p.Arg760His	NC_000006.11:g.51914955C>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.2027C>G (p.Pro676Arg)	5314	PKHD1	Benign;Likely benign	115045643	RCV000169044; RCV000082533;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51917987	51917987	NM_138694.3:c.2027C>G	NP_619639.3:p.Pro676Arg	NC_000006.11:g.51917987G>C	HGMD:CM051133	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1880T>A (p.Met627Lys)	5314	PKHD1	Pathogenic	786204696	RCV000169507;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51918920	51918920	NM_138694.3:c.1880T>A	NP_619639.3:p.Met627Lys	NC_000006.11:g.51918920A>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1877A>G (p.Lys626Arg)	5314	PKHD1	Benign	117122807	RCV000169041; RCV000176125;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51918923	51918923	NM_138694.3:c.1877A>G	NP_619639.3:p.Lys626Arg	NC_000006.11:g.51918923T>C	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1830T>A (p.Tyr610Ter)	5314	PKHD1	Likely pathogenic	749293235	RCV000169512;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51920391	51920391	NM_138694.3:c.1830T>A	NP_619639.3:p.Tyr610Ter	NC_000006.11:g.51920391A>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1694-1G>A	5314	PKHD1	Pathogenic	398124477	RCV000175488; RCV000082530;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51920528	51920528	NM_138694.3:c.1694-1G>A		NC_000006.11:g.51920528C>T	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1602+1G>A	5314	PKHD1	Pathogenic	398124476	RCV000175244; RCV000082529;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51921687	51921687	NM_138694.3:c.1602+1G>A		NC_000006.11:g.51921687C>T	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1486C>T (p.Arg496Ter)	5314	PKHD1	Pathogenic	137852949	RCV000004330;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51923147	51923147	NM_138694.3:c.1486C>T	NP_619639.3:p.Arg496Ter	NC_000006.11:g.51923147G>A	OMIM Allelic Variant:606702.0007	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1480C>T (p.Arg494Ter)	5314	PKHD1	Likely pathogenic	754392766	RCV000169415;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51923153	51923153	NM_138694.3:c.1480C>T	NP_619639.3:p.Arg494Ter	NC_000006.11:g.51923153G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1458C>A (p.Tyr486Ter)	5314	PKHD1	Likely pathogenic	786204749	RCV000169599;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51923175	51923175	NM_138694.3:c.1458C>A	NP_619639.3:p.Tyr486Ter	NC_000006.11:g.51923175G>T	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1185T>C (p.Asp395=)	5314	PKHD1	Benign	1896976	RCV000169626; RCV000082524;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN169374	6	51924774	51924774	NM_138694.3:c.1185T>C	NP_619639.3:p.Asp395=	NC_000006.11:g.51924774A>G	-	CN169374 not specified; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.1063G>T (p.Val355Phe)	5314	PKHD1	Uncertain significance	864622679	RCV000204348;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51927372	51927372	NM_138694.3:c.1063G>T	NP_619639.3:p.Val355Phe	NC_000006.11:g.51927372C>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.982C>T (p.Arg328Ter)	5314	PKHD1	Pathogenic	398124503	RCV000174804; RCV000082595;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51927453	51927453	NM_138694.3:c.982C>T	NP_619639.3:p.Arg328Ter	NC_000006.11:g.51927453G>A	HGMD:CM032306	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.930delC (p.Thr311Leufs)	5314	PKHD1	Pathogenic	398124501	RCV000174614; RCV000082592;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51929799	51929799	NM_138694.3:c.930delC	NP_619639.3:p.Thr311Leufs	NC_000006.11:g.51929799delG	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.888A>T (p.Pro296=)	5314	PKHD1	Benign	76012218	RCV000206381;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51929841	51929841	NM_138694.3:c.888A>T	NP_619639.3:p.Pro296=	NC_000006.11:g.51929841T>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.765C>G (p.Tyr255Ter)	5314	PKHD1	Pathogenic	794727037	RCV000174176;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51934268	51934268	NM_138694.3:c.765C>G	NP_619639.3:p.Tyr255Ter	NC_000006.11:g.51934268G>C	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.711_714delAATG (p.Met238Serfs)	5314	PKHD1	Likely pathogenic	786204588	RCV000169335;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51934319	51934322	NM_138694.3:c.711_714delAATG	NP_619639.3:p.Met238Serfs	NC_000006.11:g.51934319_51934322delCATT	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.682A>G (p.Ser228Gly)	5314	PKHD1	Likely pathogenic	398124491	RCV000173921; RCV000082568;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51935229	51935229	NM_138694.3:c.682A>G	NP_619639.3:p.Ser228Gly	NC_000006.11:g.51935229T>C	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.391-1G>C	5314	PKHD1	Pathogenic	398124485	RCV000179552; RCV000082550;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51941132	51941132	NM_138694.3:c.391-1G>C		NC_000006.11:g.51941132C>G	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.370C>T (p.Arg124Ter)	5314	PKHD1	Pathogenic	727504096	RCV000179011; RCV000153728;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51944718	51944718	NM_138694.3:c.370C>T	NP_619639.3:p.Arg124Ter	NC_000006.11:g.51944718G>A	HGMD:CM051118	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.353delG (p.Ser118Ilefs)	5314	PKHD1	Pathogenic	398124483	RCV000179010; RCV000082547;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51944735	51944735	NM_138694.3:c.353delG	NP_619639.3:p.Ser118Ilefs	NC_000006.11:g.51944735delC	HGMD:CD041171	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.208C>T (p.Pro70Ser)	5314	PKHD1	Uncertain significance	781485593	RCV000204332;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003	6	51947263	51947263	NM_138694.3:c.208C>T	NP_619639.3:p.Pro70Ser	NC_000006.11:g.51947263G>A	-	C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met)	5314	PKHD1	Pathogenic;protective	137852944	RCV000004324; RCV000023566; RCV000082517;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:C3149111; MedGen:CN221809	6	51947999	51947999	NM_138694.3:c.107C>T	NP_619639.3:p.Thr36Met	NC_000006.11:g.51947999G>A	HGMD:CM020490,OMIM Allelic Variant:606702.0001	C3149111 Colorectal cancer, protection against; CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type
NM_138694.3(PKHD1):c.85G>T (p.Glu29Ter)	5314	PKHD1	Pathogenic	398124498	RCV000177400; RCV000082585;	N	MedGen:C0085548,OMIM:263200,ORPHA:731,SNOMED CT:28770003; MedGen:CN221809	6	51948021	51948021	NM_138694.3:c.85G>T	NP_619639.3:p.Glu29Ter	NC_000006.11:g.51948021C>A	-	CN221809 not provided; C0085548 263200 Polycystic kidney disease, infantile type