MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..NEPHRONOPHTHISIS 15 (OMIM:614845)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..NEPHRONOPHTHISIS 12 (OMIM:613820)
..NEPHRONOPHTHISIS 14 (OMIM:614844)
..NEPHRONOPHTHISIS 15 (OMIM:614845)
..NEPHRONOPHTHISIS 16 (OMIM:615382)
..NEPHRONOPHTHISIS 18 (OMIM:615862)
..NEPHRONOPHTHISIS 19 (OMIM:616217)
..Nephronophthisis 2 (C566582)
..NEPHRONOPHTHISIS 20 (OMIM:617271)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..NEPHRONOPHTHISIS 9 (OMIM:613824)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8702

Name:

NEPHRONOPHTHISIS 15

Definition:

Alternative IDs:

DO:DOID:0111123

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403/614845 |C13.351.968.419.403/614845

Synonyms:

NPHP15

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 614845
MeSH: 614845
OMIM: 614845;
MSeqDR :
Genes: CEP164;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000618	Blindness	HP:0040283
3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283
4	HP:0001263	Global developmental delay NAMDC: Mental retardation	HP:0040283
5	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)	HP:0040283
6	HP:0001399	Hepatic failure	HP:0040283
7	HP:0000090	Nephronophthisis
8	HP:0000639	Nystagmus	HP:0040283
9	HP:0001513	Obesity	HP:0040283
10	HP:0003812	Phenotypic variability
11	HP:0010442	Polydactyly	HP:0040283
12	HP:0000546	Retinal degeneration
13	HP:0001250	Seizures NAMDC: Seizures	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000011.9:g.(?_117209303)_(117222724_?)dup	22897	CEP164	Uncertain significance	-1	RCV001309330;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209303	117222724	-1	-
NC_000011.9:g.(?_117209303)_(117234242_?)dup	22897	CEP164	Uncertain significance	-1	RCV003119461;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209303	117234242		-
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)	22897	CEP164	Conflicting interpretations of pathogenicity	765277720	RCV001374266\|RCV003229052;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117209312	117209312	117209312	-
NM_014956.5(CEP164):c.12A>G (p.Arg4=)	22897	CEP164	Likely benign	-1	RCV002663097;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209314	117209314		-
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr)	22897	CEP164	Uncertain significance	749869599	RCV001369702;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209315	117209315	117209315	-
NM_014956.5(CEP164):c.15C>T (p.Pro5=)	22897	CEP164	Likely benign	-1	RCV002952599;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209317	117209317		-
NM_014956.5(CEP164):c.20G>A (p.Arg7His)	22897	CEP164	Uncertain significance	1413886061	RCV002027453;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209322	117209322	117209322	-
NM_014956.5(CEP164):c.28G>C (p.Asp10His)	22897	CEP164	Uncertain significance	2135058109	RCV001371412;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209330	117209330	117209330	-
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)	22897	CEP164	Pathogenic	387907309	RCV000030834;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209334	117209334	11:g.117209334A>C	ClinGen:CA130149,UniProtKB:Q9UPV0#VAR_068503,OMIM:614848.0002	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.36G>T (p.Leu12=)	22897	CEP164	Likely benign	-1	RCV003087895;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209338	117209338		-
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)	22897	CEP164	Pathogenic	-1	RCV002886398;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209341	117209342	NC_000011.9:g.117209342_117209343del	-
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly)	22897	CEP164	Uncertain significance	140963454	RCV001972918;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209352	117209352	117209352	-
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser)	22897	CEP164	Uncertain significance	770996340	RCV001996392;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209355	117209355	117209355	-
NM_014956.5(CEP164):c.67A>G (p.Ile23Val)	22897	CEP164	Uncertain significance	2135058910	RCV001951739;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209369	117209369	117209369	-
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)	22897	CEP164	Uncertain significance	1565416876	RCV000723325;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209378	117209378	NC_000011.9:g.117209378G>A	-
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys)	22897	CEP164	Uncertain significance	565845914	RCV001795509\|RCV001795510\|RCV002544330;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209381	117209381	117209381	-
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)	22897	CEP164	Uncertain significance	-1	RCV002651011;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209381	117209381	NC_000011.9:g.117209381C>G	-
NM_014956.5(CEP164):c.82+19G>C	22897	CEP164	Likely benign	-1	RCV003067049;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117209403	117209403	NC_000011.9:g.117209403G>C	-
NM_014956.5(CEP164):c.83-15T>G	22897	CEP164	Likely benign	-1	RCV003089525;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214867	117214867	NC_000011.9:g.117214867T>G	-
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp)	22897	CEP164	Uncertain significance	775902514	RCV001301468;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214899	117214899	117214899	-
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly)	22897	CEP164	Uncertain significance	775902514	RCV001968266;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214899	117214899	117214899	-
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)	22897	CEP164	Uncertain significance	760829793	RCV001301757;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214900	117214900	117214900	-
NM_014956.5(CEP164):c.112A>G (p.Ile38Val)	22897	CEP164	Uncertain significance	978689124	RCV001922647;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214911	117214911	117214911	-
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)	22897	CEP164	Uncertain significance	-1	RCV002643450;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214920	117214920	NC_000011.9:g.117214920A>G	-
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln)	22897	CEP164	Uncertain significance	2038553739	RCV001306317;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214926	117214926	117214926	-
NM_014956.5(CEP164):c.129A>G (p.Glu43=)	22897	CEP164	Likely benign	762888111	RCV002156643;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214928	117214928	117214928	-
NM_014956.5(CEP164):c.150G>A (p.Ala50=)	22897	CEP164	Likely benign	367761983	RCV000880119;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214949	117214949	11:g.117214949G>A	-
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)	22897	CEP164	Pathogenic	-1	RCV003065349;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214950	117214950	NC_000011.9:g.117214950C>T	-
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)	22897	CEP164	Uncertain significance	-1	RCV002647188;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214951	117214951	NC_000011.9:g.117214951G>A	-
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)	22897	CEP164	Uncertain significance	-1	RCV002638404;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214953	117214953	NC_000011.9:g.117214953G>C	-
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala)	22897	CEP164	Uncertain significance	541149150	RCV001966322;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214954	117214954	117214954	-
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)	22897	CEP164	Uncertain significance	-1	RCV002302087;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214959	117214959	117214959	-
NM_014956.5(CEP164):c.171A>G (p.Pro57=)	22897	CEP164	Likely benign	2038560708	RCV001429056;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214970	117214970	117214970	-
NM_014956.5(CEP164):c.183G>A (p.Glu61=)	22897	CEP164	Likely benign	745920052	RCV001476539;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214982	117214982	117214982	-
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala)	22897	CEP164	Uncertain significance	138449146	RCV001236545;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214989	117214989	11:g.117214989C>G	-
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)	22897	CEP164	Uncertain significance	-1	RCV002715874;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214990	117214990	NC_000011.9:g.117214990C>T	-
NM_014956.5(CEP164):c.192A>G (p.Pro64=)	22897	CEP164	Likely benign	-1	RCV003073669;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214991	117214991		-
NM_014956.5(CEP164):c.194+2T>C	22897	CEP164	Likely pathogenic	-1	RCV003046906;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117214995	117214995	NC_000011.9:g.117214995T>C	-
NM_014956.5(CEP164):c.194+10C>T	22897	CEP164	Likely benign	1468150420	RCV000880289;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215003	117215003	11:g.117215003C>T	-
NM_014956.5(CEP164):c.194+12G>A	22897	CEP164	Likely benign	749099996	RCV002166794;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215005	117215005	117215005	-
NM_014956.5(CEP164):c.194+13G>T	22897	CEP164	Benign	116804346	RCV000243933\|RCV001522913;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215006	117215006	11:g.117215006G>T	ClinGen:CA6294349	CN169374 not specified;
NM_014956.5(CEP164):c.194+15G>T	22897	CEP164	Conflicting interpretations of pathogenicity	1423887740	RCV002030688;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215008	117215008	117215008	-
NM_014956.5(CEP164):c.194+15G>A	22897	CEP164	Likely benign	1423887740	RCV002147232;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215008	117215008	117215008	-
NM_014956.5(CEP164):c.194+16G>T	22897	CEP164	Likely benign	574862830	RCV002096614;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215009	117215009	117215009	-
NM_014956.5(CEP164):c.194+19C>T	22897	CEP164	Likely benign	374708089	RCV002119469;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215012	117215012	117215012	-
NM_014956.5(CEP164):c.194+20_194+25del	22897	CEP164	Likely benign	-1	RCV003093748;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215012	117215017	NC_000011.9:g.117215013_117215018del	-
NM_014956.5(CEP164):c.194+20G>A	22897	CEP164	Benign	184566454	RCV001514224;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117215013	117215013	117215013	-
NM_014956.5(CEP164):c.195-10C>A	22897	CEP164	Uncertain significance	-1	RCV003054598;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222496	117222496	NC_000011.9:g.117222496C>A	-
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr)	22897	CEP164	Uncertain significance	747800943	RCV001934970;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222514	117222514	117222514	-
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)	22897	CEP164	Uncertain significance	-1	RCV003034109;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222525	117222525	NC_000011.9:g.117222525A>G	-
NM_014956.5(CEP164):c.231C>T (p.Phe77=)	22897	CEP164	Likely benign	538937913	RCV002077069;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222542	117222542	117222542	-
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)	22897	CEP164	Uncertain significance	-1	RCV002891210;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222543	117222543	NC_000011.9:g.117222543G>A	-
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly)	22897	CEP164	Uncertain significance	2039670463	RCV001977977\|RCV002573446;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117222544	117222544	117222544	-
NM_014956.5(CEP164):c.237C>T (p.Asn79=)	22897	CEP164	Likely benign	149281923	RCV001416249;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222548	117222548	11:g.117222548C>T	-
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)	22897	CEP164	Pathogenic	-1	RCV002846545;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222552	117222552	NC_000011.9:g.117222552C>T	-
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)	22897	CEP164	Uncertain significance	-1	RCV002619162\|RCV003250785;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117222579	117222579	NC_000011.9:g.117222579G>C	-
NM_014956.5(CEP164):c.272A>G (p.His91Arg)	22897	CEP164	Uncertain significance	2039675348	RCV001308497;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222583	117222583	117222583	-
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)	22897	CEP164	Uncertain significance	-1	RCV003054112;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222586	117222586	NC_000011.9:g.117222586A>G	-
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)	22897	CEP164	Likely pathogenic	373403222	RCV001195792;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222587	117222587	11:g.117222587T>G	-
NM_014956.5(CEP164):c.276T>C (p.Tyr92=)	22897	CEP164	Likely benign	373403222	RCV002075919;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222587	117222587	117222587	-
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	22897	CEP164	Likely pathogenic	387907310	RCV000030835;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222588	117222588	11:g.117222588C>T	ClinGen:CA130150,UniProtKB:Q9UPV0#VAR_068504,OMIM:614848.0003	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)	22897	CEP164	Uncertain significance	-1	RCV003081360;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222589	117222589	NC_000011.9:g.117222589G>A	-
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn)	22897	CEP164	Benign	490262	RCV000249179\|RCV001511796\|RCV001689873;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117222592	117222592	11:g.117222592G>A	ClinGen:CA6294387,UniProtKB:Q9UPV0#VAR_037511	CN169374 not specified;
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)	22897	CEP164	Uncertain significance	-1	RCV003048865;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222625	117222625	NC_000011.9:g.117222625C>T	-
NM_014956.5(CEP164):c.315T>C (p.Thr105=)	22897	CEP164	Likely benign	147988387	RCV001421117;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222626	117222626	117222626	-
NM_014956.5(CEP164):c.333G>A (p.Lys111=)	22897	CEP164	Likely benign	568554283	RCV002505273;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222644	117222644	11:g.117222644G>A	-
NM_014956.5(CEP164):c.347dup (p.Glu117fs)	22897	CEP164	Likely pathogenic	-1	RCV003338094;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222647	117222648		-
NM_014956.5(CEP164):c.347del (p.Lys116fs)	22897	CEP164	Benign	751277203	RCV001283852\|RCV001797168;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117222648	117222648	117222647	-
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu)	22897	CEP164	Uncertain significance	75301270	RCV001936100\|RCV003167305;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117222648	117222648	117222648	-
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)	22897	CEP164	Uncertain significance	77118839	RCV001327350;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222649	117222649	117222649	-
NM_014956.5(CEP164):c.339A>G (p.Lys113=)	22897	CEP164	Likely benign	1443066781	RCV002114420;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222650	117222650	117222650	-
NM_014956.5(CEP164):c.347A>T (p.Lys116Met)	22897	CEP164	Uncertain significance	867484690	RCV001867399;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222658	117222658	117222658	-
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)	22897	CEP164	Uncertain significance	-1	RCV002605109;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222666	117222666	NC_000011.9:g.117222666A>G	-
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly)	22897	CEP164	Uncertain significance	2135446465	RCV002020111;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222679	117222679	117222679	-
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly)	22897	CEP164	Uncertain significance	2135446492	RCV001980962;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222681	117222681	117222681	-
NM_014956.5(CEP164):c.381dup (p.Lys128fs)	22897	CEP164	Pathogenic/Likely pathogenic	747914869	RCV000704782\|RCV003128654;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117222685	117222686	11:g.117222685_117222686insC	-	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.381del (p.Ser129fs)	22897	CEP164	Pathogenic	-1	RCV002851384;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222686	117222686	NC_000011.9:g.117222692del	-
NM_014956.5(CEP164):c.380C>A (p.Pro127His)	22897	CEP164	Conflicting interpretations of pathogenicity	143659874	RCV000485423\|RCV001089408;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222691	117222691	11:g.117222691C>A	ClinGen:CA6294412	CN169374 not specified;
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)	22897	CEP164	Conflicting interpretations of pathogenicity	143659874	RCV000951546\|RCV001701259;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117222691	117222691	11:g.117222691C>T	-
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg)	22897	CEP164	Uncertain significance	143659874	RCV001984582;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222691	117222691	117222691	-
NM_014956.5(CEP164):c.381C>G (p.Pro127=)	22897	CEP164	Likely benign	375951540	RCV002084442;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222692	117222692	117222692	-
NM_014956.5(CEP164):c.381C>A (p.Pro127=)	22897	CEP164	Likely benign	375951540	RCV002219626;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222692	117222692	117222692	-
NM_014956.5(CEP164):c.381C>T (p.Pro127=)	22897	CEP164	Likely benign	-1	RCV002619177;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222692	117222692		-
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr)	22897	CEP164	Uncertain significance	919243922	RCV001972161\|RCV002561522;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117222697	117222697	117222697	-
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu)	22897	CEP164	Uncertain significance	1006672566	RCV001983626;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222700	117222700	117222700	-
NM_014956.5(CEP164):c.390G>A (p.Ser130=)	22897	CEP164	Likely benign	773045906	RCV002065949;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222701	117222701	11:g.117222701G>A	-
NM_014956.5(CEP164):c.393+5G>A	22897	CEP164	Uncertain significance	1230691362	RCV001948195;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117222709	117222709	117222709	-
NC_000011.9:g.(?_117232531)_(117233274_?)del	22897	CEP164	Uncertain significance	-1	RCV003119460;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232531	117233274		-
NM_014956.5(CEP164):c.394-18A>G	22897	CEP164	Uncertain significance	201463212	RCV001899236;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232533	117232533	117232533	-
NM_014956.5(CEP164):c.394-18A>C	22897	CEP164	Likely benign	201463212	RCV002135001;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232533	117232533	117232533	-
NM_014956.5(CEP164):c.394-16G>A	22897	CEP164	Likely benign	367677064	RCV002109217;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232535	117232535	117232535	-
NM_014956.5(CEP164):c.394-9G>A	22897	CEP164	Likely benign	-1	RCV002741876;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232542	117232542	NC_000011.9:g.117232542G>A	-
NM_014956.5(CEP164):c.394-7T>C	22897	CEP164	Likely benign	2135687974	RCV002196810;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232544	117232544	117232544	-
NM_014956.5(CEP164):c.394-6G>T	22897	CEP164	Likely benign	2135688046	RCV002148336;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232545	117232545	117232545	-
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly)	22897	CEP164	Benign	61746874	RCV000650289;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232552	117232552	NC_000011.9:g.117232552C>G	ClinGen:CA6294471	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.396C>T (p.Ala132=)	22897	CEP164	Likely benign	145551039	RCV001463609;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232553	117232553	11:g.117232553C>T	-
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)	22897	CEP164	Uncertain significance	-1	RCV002606805;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232569	117232569	NC_000011.9:g.117232569G>A	-
NM_014956.5(CEP164):c.418G>A (p.Val140Ile)	22897	CEP164	Uncertain significance	778310001	RCV002036862;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232575	117232575	117232575	-
NM_014956.5(CEP164):c.422A>G (p.His141Arg)	22897	CEP164	Uncertain significance	200045306	RCV002008736;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232579	117232579	117232579	-
NM_014956.5(CEP164):c.429T>C (p.Pro143=)	22897	CEP164	Likely benign	-1	RCV002646106;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232586	117232586		-
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)	22897	CEP164	Uncertain significance	-1	RCV003112860;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232597	117232597	NC_000011.9:g.117232597T>C	-
NM_014956.5(CEP164):c.444T>G (p.Ala148=)	22897	CEP164	Likely benign	2135689461	RCV002174600;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232601	117232601	117232601	-
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)	22897	CEP164	Pathogenic/Likely pathogenic	149195472	RCV001361797;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232608	117232608	117232608	-
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln)	22897	CEP164	Uncertain significance	564746056	RCV001323966;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232609	117232609	117232609	-
NM_014956.5(CEP164):c.456T>C (p.Gly152=)	22897	CEP164	Likely benign	2135689791	RCV002165657;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232613	117232613	117232613	-
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe)	22897	CEP164	Uncertain significance	375118998	RCV000179485\|RCV001852234;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232614	117232614	11:g.117232614C>T	ClinGen:CA246748	CN169374 not specified;
NM_014956.5(CEP164):c.485G>A (p.Arg162His)	22897	CEP164	Uncertain significance	139763142	RCV001345602;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232642	117232642	117232642	-
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu)	22897	CEP164	Uncertain significance	139763142	RCV001948082;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232642	117232642	117232642	-
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys)	22897	CEP164	Uncertain significance	149806421	RCV002049313;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232648	117232648	117232648	-
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)	22897	CEP164	Uncertain significance	-1	RCV002815062;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232654	117232654	NC_000011.9:g.117232654G>A	-
NM_014956.5(CEP164):c.499G>A (p.Val167Met)	22897	CEP164	Uncertain significance	748619597	RCV001226462;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232656	117232656	11:g.117232656G>A	-
NM_014956.5(CEP164):c.501G>A (p.Val167=)	22897	CEP164	Likely benign	770213078	RCV001431435;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232658	117232658	117232658	-
NM_014956.5(CEP164):c.504C>T (p.Ser168=)	22897	CEP164	Likely benign	2041032743	RCV001490794;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232661	117232661	117232661	-
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)	22897	CEP164	Uncertain significance	-1	RCV002872792;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232663	117232663	NC_000011.9:g.117232663T>C	-
NM_014956.5(CEP164):c.510G>A (p.Gly170=)	22897	CEP164	Likely benign	145771994	RCV002202663;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232667	117232667	117232667	-
NM_014956.5(CEP164):c.516A>G (p.Ser172=)	22897	CEP164	Likely benign	2135691137	RCV002162303;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232673	117232673	117232673	-
NM_014956.5(CEP164):c.519G>A (p.Val173=)	22897	CEP164	Likely benign	2135691164	RCV001506154;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232676	117232676	117232676	-
NM_014956.5(CEP164):c.522G>A (p.Glu174=)	22897	CEP164	Likely benign	-1	RCV002609617;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232679	117232679		-
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys)	22897	CEP164	Uncertain significance	774763557	RCV001348445;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232686	117232686	117232686	-
NM_014956.5(CEP164):c.530G>A (p.Arg177His)	22897	CEP164	Uncertain significance	199701600	RCV002020443;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232687	117232687	117232687	-
NM_014956.5(CEP164):c.534G>A (p.Gln178=)	22897	CEP164	Likely benign	148498531	RCV002158213;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232691	117232691	117232691	-
NM_014956.5(CEP164):c.547A>G (p.Met183Val)	22897	CEP164	Uncertain significance	749917447	RCV001306868;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232704	117232704	117232704	-
NM_014956.5(CEP164):c.547A>C (p.Met183Leu)	22897	CEP164	Uncertain significance	749917447	RCV001988053;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232704	117232704	117232704	-
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)	22897	CEP164	Uncertain significance	144206271	RCV000694786;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232705	117232705	11:g.117232705T>A	-	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.548T>C (p.Met183Thr)	22897	CEP164	Conflicting interpretations of pathogenicity	144206271	RCV001901326\|RCV003375426;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117232705	117232705	117232705	-
NM_014956.5(CEP164):c.552+1G>C	22897	CEP164	Likely pathogenic	2041038603	RCV001235812;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232710	117232710	11:g.117232710G>C	-
NM_014956.5(CEP164):c.552+8C>T	22897	CEP164	Likely benign	368573245	RCV001499412;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232717	117232717	117232717	-
NM_014956.5(CEP164):c.552+9G>A	22897	CEP164	Likely benign	1278586123	RCV002109428;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232718	117232718	117232718	-
NM_014956.5(CEP164):c.552+14C>G	22897	CEP164	Likely benign	754626177	RCV002108756;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232723	117232723	117232723	-
NM_014956.5(CEP164):c.552+16T>C	22897	CEP164	Likely benign	753063818	RCV002193182;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232725	117232725	117232725	-
NM_014956.5(CEP164):c.552+19G>A	22897	CEP164	Likely benign	756643754	RCV002123087;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117232728	117232728	117232728	-
NM_014956.5(CEP164):c.553-14_553-12del	22897	CEP164	Likely benign	-1	RCV003074460;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233104	117233106	NC_000011.9:g.117233106_117233108del	-
NM_014956.5(CEP164):c.553-12_688-79del	22897	CEP164	Uncertain significance	2135702447	RCV002038403;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233108	117234066	117233107	-
NM_014956.5(CEP164):c.553-11C>T	22897	CEP164	Likely benign	200692234	RCV002109648;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233109	117233109	117233109	-
NM_014956.5(CEP164):c.553-8T>C	22897	CEP164	Likely benign	2135702598	RCV001458085;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233112	117233112	117233112	-
NM_014956.5(CEP164):c.553-7T>C	22897	CEP164	Likely benign	-1	RCV002971226;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233113	117233113	NC_000011.9:g.117233113T>C	-
NM_014956.5(CEP164):c.553-1G>A	22897	CEP164	Likely pathogenic	2041099865	RCV001371877;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233119	117233119	117233119	-
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu)	22897	CEP164	Uncertain significance	1354068792	RCV001237671;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233124	117233124	11:g.117233124C>T	-
NM_014956.5(CEP164):c.564T>C (p.Gly188=)	22897	CEP164	Likely benign	2135703118	RCV001419383;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233131	117233131	117233131	-
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)	22897	CEP164	Uncertain significance	-1	RCV002998694;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233148	117233148	NC_000011.9:g.117233148A>G	-
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser)	22897	CEP164	Uncertain significance	2135703292	RCV001912182;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233150	117233150	117233150	-
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser)	22897	CEP164	Uncertain significance	2135703365	RCV001992842;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233156	117233156	117233156	-
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)	22897	CEP164	Uncertain significance	-1	RCV003029569;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233157	117233157	NC_000011.9:g.117233157G>A	-
NM_014956.5(CEP164):c.591T>C (p.Gly197=)	22897	CEP164	Likely benign	1401888374	RCV002100727;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233158	117233158	117233158	-
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)	22897	CEP164	Uncertain significance	-1	RCV003063903;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233169	117233169	NC_000011.9:g.117233169C>T	-
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly)	22897	CEP164	Uncertain significance	753078424	RCV001936256;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233181	117233181	117233181	-
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)	22897	CEP164	Uncertain significance	-1	RCV002595731;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233190	117233190	NC_000011.9:g.117233190C>T	-
NM_014956.5(CEP164):c.625C>G (p.Leu209Val)	22897	CEP164	Uncertain significance	921440647	RCV001371006;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233192	117233192	117233192	-
NM_014956.5(CEP164):c.627C>T (p.Leu209=)	22897	CEP164	Likely benign	754357397	RCV002102539;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233194	117233194	117233194	-
NM_014956.5(CEP164):c.644_646del (p.Gly215del)	22897	CEP164	Uncertain significance	759774330	RCV001328818;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233209	117233211	117233208	-
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del)	22897	CEP164	Uncertain significance	2135704436	RCV002005762;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233225	117233227	117233224	-
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg)	22897	CEP164	Uncertain significance	199924960	RCV001923764;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233245	117233245	117233245	-
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)	22897	CEP164	Uncertain significance	-1	RCV002966195;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233246	117233246	NC_000011.9:g.117233246G>A	-
NM_014956.5(CEP164):c.687G>C (p.Gln229His)	22897	CEP164	Uncertain significance	2041112988	RCV001237173;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233254	117233254	11:g.117233254G>C	-
NM_014956.5(CEP164):c.687+1G>A	22897	CEP164	Likely pathogenic	-1	RCV002676044;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233255	117233255	NC_000011.9:g.117233255G>A	-
NM_014956.5(CEP164):c.687+5T>A	22897	CEP164	Uncertain significance	-1	RCV002800951;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233259	117233259	NC_000011.9:g.117233259T>A	-
NM_014956.5(CEP164):c.687+7A>G	22897	CEP164	Uncertain significance	-1	RCV002942993;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233261	117233261	NC_000011.9:g.117233261A>G	-
NM_014956.5(CEP164):c.687+12G>A	22897	CEP164	Likely benign	-1	RCV002576216;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233266	117233266	NC_000011.9:g.117233266G>A	-
NM_014956.5(CEP164):c.687+15C>T	22897	CEP164	Benign/Likely benign	200387177	RCV002150720;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233269	117233269	117233269	-
NM_014956.5(CEP164):c.687+16T>C	22897	CEP164	Likely benign	-1	RCV002726069;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233270	117233270	NC_000011.9:g.117233270T>C	-
NM_014956.5(CEP164):c.687+19C>T	22897	CEP164	Likely benign	-1	RCV003005095;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117233273	117233273	NC_000011.9:g.117233273C>T	-
NM_014956.5(CEP164):c.688-17A>C	22897	CEP164	Likely benign	-1	RCV003061809;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234128	117234128	NC_000011.9:g.117234128A>C	-
NM_014956.5(CEP164):c.688-15C>T	22897	CEP164	Likely benign	2135722788	RCV002104095;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234130	117234130	117234130	-
NM_014956.5(CEP164):c.688-8del	22897	CEP164	Likely benign	1304697768	RCV001477379;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234137	117234137	117234136	-
NM_014956.5(CEP164):c.688-7T>C	22897	CEP164	Benign/Likely benign	539939395	RCV000960656;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234138	117234138	11:g.117234138T>C	-
NM_014956.5(CEP164):c.688-4C>T	22897	CEP164	Likely benign	-1	RCV002622620;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234141	117234141	NC_000011.9:g.117234141C>T	-
NM_014956.5(CEP164):c.688-2A>C	22897	CEP164	Likely pathogenic	370034077	RCV001372343;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234143	117234143	117234143	-
NM_014956.5(CEP164):c.693C>G (p.Val231=)	22897	CEP164	Likely benign	-1	RCV002802142;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234150	117234150		-
NM_014956.5(CEP164):c.696C>T (p.His232=)	22897	CEP164	Likely benign	201189268	RCV000953828;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234153	117234153	11:g.117234153C>T	-
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn)	22897	CEP164	Uncertain significance	755237805	RCV001910084;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234155	117234155	117234155	-
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly)	22897	CEP164	Uncertain significance	777527578	RCV001226988;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234160	117234160	11:g.117234160A>G	-
NM_014956.5(CEP164):c.705T>C (p.Ser235=)	22897	CEP164	Likely benign	1316790259	RCV001946581;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234162	117234162	117234162	-
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys)	22897	CEP164	Uncertain significance	749146317	RCV001891638;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234163	117234163	117234163	-
NM_014956.5(CEP164):c.708G>A (p.Glu236=)	22897	CEP164	Likely benign	770827539	RCV002137634;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234165	117234165	117234165	-
NM_014956.5(CEP164):c.710C>A (p.Pro237His)	22897	CEP164	Uncertain significance	567606919	RCV001959762;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234167	117234167	117234167	-
NM_014956.5(CEP164):c.714T>G (p.Leu238=)	22897	CEP164	Likely benign	745843938	RCV002179734;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234171	117234171	117234171	-
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser)	22897	CEP164	Uncertain significance	1335434297	RCV001733663;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234174	117234174	117234174	-
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)	22897	CEP164	Uncertain significance	-1	RCV002654740;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234177	117234177	NC_000011.9:g.117234177C>G	-
NM_014956.5(CEP164):c.726C>T (p.His242=)	22897	CEP164	Benign	549905287	RCV001510247;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234183	117234183	117234183	-
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)	22897	CEP164	Uncertain significance	-1	RCV003116752;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234191	117234191	NC_000011.9:g.117234191T>C	-
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer)	22897	CEP164	Pathogenic	1402460878	RCV001299006;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234200	117234201	117234200	-
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)	22897	CEP164	Uncertain significance	-1	RCV003015508;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234202	117234202	NC_000011.9:g.117234202G>T	-
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser)	22897	CEP164	Benign	146501105	RCV000556568;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234205	117234205	11:g.117234205G>A	ClinGen:CA6294575	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp)	22897	CEP164	Uncertain significance	368668415	RCV001933030;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234206	117234206	117234206	-
NM_014956.5(CEP164):c.760T>C (p.Tyr254His)	22897	CEP164	Uncertain significance	750854769	RCV001968701;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234217	117234217	117234217	-
NM_014956.5(CEP164):c.762T>C (p.Tyr254=)	22897	CEP164	Likely benign	766308731	RCV002167162;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234219	117234219	117234219	-
NM_014956.5(CEP164):c.765+1G>A	22897	CEP164	Likely pathogenic	2041251614	RCV001994202;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234223	117234223	117234223	-
NM_014956.5(CEP164):c.765+3A>T	22897	CEP164	Uncertain significance	1256710112	RCV001925605;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234225	117234225	117234225	-
NM_014956.5(CEP164):c.765+3A>G	22897	CEP164	Uncertain significance	-1	RCV003077123;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234225	117234225	NC_000011.9:g.117234225A>G	-
NM_014956.5(CEP164):c.765+4A>T	22897	CEP164	Uncertain significance	-1	RCV003077124;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234226	117234226	NC_000011.9:g.117234226A>T	-
NM_014956.5(CEP164):c.765+6A>G	22897	CEP164	Uncertain significance	2041252535	RCV002038379;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234228	117234228	117234228	-
NM_014956.5(CEP164):c.765+7_765+16del	22897	CEP164	Likely benign	-1	RCV003060832;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234229	117234238	NC_000011.9:g.117234229_117234238del	-
NM_014956.5(CEP164):c.765+8C>T	22897	CEP164	Likely benign	2041253275	RCV001497348;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234230	117234230	117234230	-
NM_014956.5(CEP164):c.765+12A>G	22897	CEP164	Likely benign	-1	RCV003078112;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234234	117234234	NC_000011.9:g.117234234A>G	-
NM_014956.5(CEP164):c.765+19A>G	22897	CEP164	Likely benign	-1	RCV002573950;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117234241	117234241	NC_000011.9:g.117234241A>G	-
NM_014956.5(CEP164):c.766-36T>A	22897	CEP164	Benign	2305826	RCV001579188\|RCV001694133;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117241760	117241760	117241760	-
NM_014956.5(CEP164):c.766-5C>T	22897	CEP164	Likely benign	-1	RCV002814882;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241791	117241791	NC_000011.9:g.117241791C>T	-
NM_014956.5(CEP164):c.766-2A>G	22897	CEP164	Likely pathogenic	2135912935	RCV002015797;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241794	117241794	117241794	-
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys)	22897	CEP164	Uncertain significance	2135912954	RCV002023785;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241800	117241800	117241800	-
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)	22897	CEP164	Uncertain significance	776372232	RCV001237837\|RCV002563900\|RCV003159194;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	11	117241809	117241809	11:g.117241809C>A	-
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del)	22897	CEP164	Uncertain significance	764638875	RCV001039964;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241824	117241826	11:g.117241824_117241826del	-
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)	22897	CEP164	Uncertain significance	-1	RCV003033741;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241833	117241833	NC_000011.9:g.117241833A>G	-
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)	22897	CEP164	Uncertain significance	1411607770	RCV000799082\|RCV003166172;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117241845	117241845	11:g.117241845A>G	-
NM_014956.5(CEP164):c.828C>T (p.Ala276=)	22897	CEP164	Benign	201125321	RCV001517715;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241858	117241858	117241858	-
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys)	22897	CEP164	Uncertain significance	772164945	RCV001308003;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241859	117241859	117241859	-
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser)	22897	CEP164	Uncertain significance	767609128	RCV001304037;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241862	117241862	117241862	-
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg)	22897	CEP164	Uncertain significance	376214075	RCV001365165\|RCV002547836;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117241863	117241863	117241863	-
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu)	22897	CEP164	Uncertain significance	376214075	RCV001978121;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241863	117241863	117241863	-
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys)	22897	CEP164	Uncertain significance	764958657	RCV001316873;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241884	117241884	117241884	-
NM_014956.5(CEP164):c.861A>C (p.Pro287=)	22897	CEP164	Likely benign	-1	RCV003015386;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241891	117241891		-
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile)	22897	CEP164	Uncertain significance	2135914534	RCV002024813;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241914	117241914	117241914	-
NM_014956.5(CEP164):c.900G>C (p.Gly300=)	22897	CEP164	Likely benign	754494197	RCV002090590;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241930	117241930	117241930	-
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)	22897	CEP164	Conflicting interpretations of pathogenicity	780849567	RCV000591592\|RCV001045186;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241931	117241931	11:g.117241931C>T	ClinGen:CA6294612	CN169374 not specified;
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)	22897	CEP164	Uncertain significance	769627423	RCV001924332;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241932	117241932	117241932	-
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg)	22897	CEP164	Uncertain significance	1281252703	RCV001227285;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241937	117241937	11:g.117241937G>A	-
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)	22897	CEP164	Uncertain significance	-1	RCV003012429;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241955	117241955	NC_000011.9:g.117241955G>A	-
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)	22897	CEP164	Uncertain significance	-1	RCV002304628;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241961	117241961	117241961	-
NM_014956.5(CEP164):c.942G>A (p.Glu314=)	22897	CEP164	Likely benign	2042169087	RCV002207940;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241972	117241972	117241972	-
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly)	22897	CEP164	Uncertain significance	144767290	RCV002036144;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241974	117241974	117241974	-
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)	22897	CEP164	Uncertain significance	-1	RCV002914103;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241977	117241977	NC_000011.9:g.117241977A>G	-
NM_014956.5(CEP164):c.948T>C (p.Asn316=)	22897	CEP164	Likely benign	-1	RCV003056288;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241978	117241978		-
NM_014956.5(CEP164):c.954G>A (p.Lys318=)	22897	CEP164	Likely benign	1311734878	RCV001494924;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241984	117241984	117241984	-
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser)	22897	CEP164	Uncertain significance	566379982	RCV001359913;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241991	117241991	117241991	-
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn)	22897	CEP164	Uncertain significance	2042170733	RCV001048186;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117241996	117241996	11:g.117241996G>C	-
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)	22897	CEP164	Uncertain significance	-1	RCV002765702;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242015	117242015	NC_000011.9:g.117242015A>T	-
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)	22897	CEP164	Uncertain significance	-1	RCV002648089;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242016	117242017	NC_000011.9:g.117242020_117242031dup	-
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)	22897	CEP164	Uncertain significance	-1	RCV002701243;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242016	117242016	NC_000011.9:g.117242016C>T	-
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)	22897	CEP164	Uncertain significance	-1	RCV002976315;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242027	117242027	NC_000011.9:g.117242027G>A	-
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)	22897	CEP164	Uncertain significance	2042173742	RCV001211368;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242031	117242031	11:g.117242031C>G	-
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala)	22897	CEP164	Uncertain significance	2042173963	RCV001318916;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242033	117242033	117242033	-
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly)	22897	CEP164	Uncertain significance	151204404	RCV001909304;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242039	117242039	117242039	-
NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)	22897	CEP164	Uncertain significance	-1	RCV002299127;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242063	117242063	117242063	-
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala)	22897	CEP164	Uncertain significance	147746626	RCV001299374;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242072	117242072	117242072	-
NM_014956.5(CEP164):c.1047G>A (p.Glu349=)	22897	CEP164	Likely benign	777528550	RCV002097545;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242077	117242077	117242077	-
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)	22897	CEP164	Uncertain significance	-1	RCV003020198;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242083	117242085	NC_000011.9:g.117242085_117242087del	-
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)	22897	CEP164	Uncertain significance	-1	RCV003086193;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242084	117242084	NC_000011.9:g.117242084G>A	-
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly)	22897	CEP164	Uncertain significance	2135917595	RCV002012586;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242088	117242088	117242088	-
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup)	22897	CEP164	Uncertain significance	2042177715	RCV001344214;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242095	117242096	117242095	-
NM_014956.5(CEP164):c.1071G>A (p.Glu357=)	22897	CEP164	Likely benign	1247651761	RCV002164264;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242101	117242101	117242101	-
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)	22897	CEP164	Uncertain significance	-1	RCV002760193;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242105	117242105	NC_000011.9:g.117242105T>C	-
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys)	22897	CEP164	Uncertain significance	2135917914	RCV001912283;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242113	117242114	117242113	-
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp)	22897	CEP164	Uncertain significance	748917124	RCV002008578;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242119	117242119	117242119	-
NM_014956.5(CEP164):c.1104A>G (p.Pro368=)	22897	CEP164	Likely benign	2042179714	RCV002147465;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242134	117242134	117242134	-
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr)	22897	CEP164	Uncertain significance	2042180668	RCV001315374;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242144	117242144	117242144	-
NM_014956.5(CEP164):c.1116T>G (p.Ala372=)	22897	CEP164	Likely benign	2042180843	RCV001492891;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242146	117242146	117242146	-
NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro)	22897	CEP164	Uncertain significance	2042181037	RCV002039232;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242147	117242147	117242147	-
NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly)	22897	CEP164	Benign	200122409	RCV001512910;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242165	117242165	11:g.117242165A>G	-
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn)	22897	CEP164	Uncertain significance	374832717	RCV001234996;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242166	117242166	11:g.117242166G>A	-
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg)	22897	CEP164	Uncertain significance	550044351	RCV001901426;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242167	117242167	117242167	-
NM_014956.5(CEP164):c.1143C>T (p.Asp381=)	22897	CEP164	Likely benign	375647094	RCV002066222;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242173	117242173	11:g.117242173C>T	-
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr)	22897	CEP164	Uncertain significance	780364658	RCV001050198;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242174	117242174	11:g.117242174G>A	-
NM_014956.5(CEP164):c.1152A>G (p.Gln384=)	22897	CEP164	Uncertain significance	368171178	RCV001055754;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242182	117242182	11:g.117242182A>G	-
NM_014956.5(CEP164):c.1152+2dup	22897	CEP164	Uncertain significance	1592221277	RCV001894853;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242183	117242184	117242183	-
NM_014956.5(CEP164):c.1152+8A>T	22897	CEP164	Likely benign	1277594291	RCV001396474;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242190	117242190	117242190	-
NM_014956.5(CEP164):c.1152+15C>T	22897	CEP164	Likely benign	2135919720	RCV002187063;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242197	117242197	117242197	-
NM_014956.5(CEP164):c.1152+16C>T	22897	CEP164	Likely benign	375703035	RCV002097932;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117242198	117242198	117242198	-
NM_014956.5(CEP164):c.1153-18G>A	22897	CEP164	Likely benign	1490620046	RCV002207428;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244449	117244449	117244449	-
NM_014956.5(CEP164):c.1153-15G>T	22897	CEP164	Likely benign	372749388	RCV002108563;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244452	117244452	117244452	-
NM_014956.5(CEP164):c.1153-15G>A	22897	CEP164	Likely benign	-1	RCV002628583;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244452	117244452	NC_000011.9:g.117244452G>A	-
NM_014956.5(CEP164):c.1153-10G>A	22897	CEP164	Likely benign	-1	RCV002999559;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244457	117244457	NC_000011.9:g.117244457G>A	-
NM_014956.5(CEP164):c.1153-4C>T	22897	CEP164	Likely benign	-1	RCV003050163;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244463	117244463	NC_000011.9:g.117244463C>T	-
NM_014956.5(CEP164):c.1155A>G (p.Glu385=)	22897	CEP164	Likely benign	1318886330	RCV002107116;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244469	117244469	117244469	-
NM_014956.5(CEP164):c.1158G>A (p.Leu386=)	22897	CEP164	Likely benign	199723361	RCV002152201;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244472	117244472	117244472	-
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys)	22897	CEP164	Uncertain significance	2135971658	RCV001997970;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244473	117244473	117244473	-
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp)	22897	CEP164	Uncertain significance	1347609515	RCV001907135;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244475	117244477	117244474	-
NM_014956.5(CEP164):c.1164T>C (p.Ile388=)	22897	CEP164	Likely benign	-1	RCV003069166;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244478	117244478		-
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile)	22897	CEP164	Uncertain significance	759452273	RCV001059363;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244490	117244490	11:g.117244490G>T	-
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)	22897	CEP164	Pathogenic	-1	RCV002938986;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244493	117244494	NC_000011.9:g.117244493_117244494delinsCT	-
NM_014956.5(CEP164):c.1191C>G (p.Leu397=)	22897	CEP164	Likely benign	763602671	RCV002126871;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244505	117244505	117244505	-
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met)	22897	CEP164	Uncertain significance	202080477	RCV001363419\|RCV003246945;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117244517	117244517	117244517	-
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)	22897	CEP164	Conflicting interpretations of pathogenicity	150314805	RCV001071532\|RCV001540314;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117244534	117244534	11:g.117244534C>T	-
NM_014956.5(CEP164):c.1226A>G (p.His409Arg)	22897	CEP164	Uncertain significance	747489061	RCV001307303;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244540	117244540	117244540	-
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp)	22897	CEP164	Uncertain significance	1394172852	RCV001900658;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244543	117244543	117244543	-
NM_014956.5(CEP164):c.1233+7T>G	22897	CEP164	Likely benign	-1	RCV003121267;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244554	117244554	NC_000011.9:g.117244554T>G	-
NM_014956.5(CEP164):c.1233+9G>A	22897	CEP164	Likely benign	1042105817	RCV002085263;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244556	117244556	117244556	-
NM_014956.5(CEP164):c.1233+18del	22897	CEP164	Likely benign	2135973306	RCV001470481;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244563	117244563	117244562	-
NM_014956.5(CEP164):c.1233+16G>A	22897	CEP164	Likely benign	-1	RCV003071823;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117244563	117244563	NC_000011.9:g.117244563G>A	-
NM_014956.5(CEP164):c.1234-16T>C	22897	CEP164	Likely benign	-1	RCV003055004;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246408	117246408	NC_000011.9:g.117246408T>C	-
NM_014956.5(CEP164):c.1234-2A>T	22897	CEP164	Likely pathogenic	-1	RCV003111940;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246422	117246422	NC_000011.9:g.117246422A>T	-
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn)	22897	CEP164	Uncertain significance	2042669971	RCV001308117;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246424	117246424	117246424	-
NM_014956.5(CEP164):c.1239C>T (p.Phe413=)	22897	CEP164	Likely benign	535461023	RCV001393555;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246429	117246429	117246429	-
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser)	22897	CEP164	Uncertain significance	2042670551	RCV001891110;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246430	117246430	117246430	-
NM_014956.5(CEP164):c.1245T>C (p.Phe415=)	22897	CEP164	Likely benign	555876739	RCV001419793;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246435	117246435	117246435	-
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys)	22897	CEP164	Uncertain significance	766713516	RCV001372077;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246436	117246436	117246436	-
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)	22897	CEP164	Uncertain significance	-1	RCV003063137;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246437	117246437	NC_000011.9:g.117246437G>A	-
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp)	22897	CEP164	Uncertain significance	575328059	RCV001299887;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246442	117246442	117246442	-
NM_014956.5(CEP164):c.1257C>T (p.Ile419=)	22897	CEP164	Likely benign	2136010416	RCV002161482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246447	117246447	117246447	-
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu)	22897	CEP164	Uncertain significance	1324951273	RCV002044672;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246449	117246449	117246449	-
NM_014956.5(CEP164):c.1260G>A (p.Ser420=)	22897	CEP164	Likely benign	-1	RCV002971966;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246450	117246450		-
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs)	22897	CEP164	Pathogenic	2042674113	RCV001536031;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246454	117246455	117246454	-
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)	22897	CEP164	Uncertain significance	-1	RCV002839520;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246456	117246456	NC_000011.9:g.117246456C>G	-
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro)	22897	CEP164	Uncertain significance	557486197	RCV001206356;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246458	117246458	11:g.117246458T>C	-
NM_014956.5(CEP164):c.1270C>T (p.Leu424=)	22897	CEP164	Likely benign	-1	RCV002617840;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246460	117246460		-
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)	22897	CEP164	Uncertain significance	-1	RCV002616695;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246463	117246463	NC_000011.9:g.117246463G>T	-
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly)	22897	CEP164	Uncertain significance	2136011109	RCV002042534;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246473	117246473	117246473	-
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe)	22897	CEP164	Uncertain significance	2042677558	RCV001295529;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246479	117246479	117246479	-
NM_014956.5(CEP164):c.1298del (p.Leu433fs)	22897	CEP164	Pathogenic	-1	RCV003076066;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246488	117246488	NC_000011.9:g.117246488del	-
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)	22897	CEP164	Uncertain significance	-1	RCV002908424;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246502	117246502	NC_000011.9:g.117246502C>T	-
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)	22897	CEP164	Uncertain significance	137987733	RCV001237254;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246503	117246503	11:g.117246503G>A	-
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu)	22897	CEP164	Uncertain significance	143370558	RCV001342889;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246506	117246506	117246506	-
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro)	22897	CEP164	Uncertain significance	143370558	RCV001994133;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246506	117246506	117246506	-
NM_014956.5(CEP164):c.1317+3G>A	22897	CEP164	Conflicting interpretations of pathogenicity	886038607	RCV000251628\|RCV001217235;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246510	117246510	NC_000011.9:g.117246510G>A	ClinGen:CA10587106	CN169374 not specified;
NM_014956.5(CEP164):c.1317+11G>A	22897	CEP164	Likely benign	370606132	RCV002111483;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246518	117246518	117246518	-
NM_014956.5(CEP164):c.1317+15G>A	22897	CEP164	Likely benign	2136012033	RCV002202061;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246522	117246522	117246522	-
NM_014956.5(CEP164):c.1317+16T>G	22897	CEP164	Likely benign	-1	RCV002648105;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117246523	117246523	NC_000011.9:g.117246523T>G	-
NM_014956.5(CEP164):c.1318-13_1319del	22897	CEP164	Likely pathogenic	-1	RCV002837941;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251315	117251329	NC_000011.9:g.117251317_117251331del	-
NM_014956.5(CEP164):c.1318-14C>T	22897	CEP164	Likely benign	1397653828	RCV002174049;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251316	117251316	117251316	-
NM_014956.5(CEP164):c.1318-9C>G	22897	CEP164	Likely benign	576006225	RCV002215142;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251321	117251321	117251321	-
NM_014956.5(CEP164):c.1320C>T (p.Ala440=)	22897	CEP164	Likely benign	145815710	RCV000951617;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251332	117251332	11:g.117251332C>T	-
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg)	22897	CEP164	Uncertain significance	138536460	RCV001870956;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251334	117251334	117251334	-
NM_014956.5(CEP164):c.1326A>G (p.Gln442=)	22897	CEP164	Likely benign	1052978293	RCV002147852;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251338	117251338	117251338	-
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val)	22897	CEP164	Uncertain significance	1213789533	RCV001298590;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251348	117251348	117251348	-
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)	22897	CEP164	Uncertain significance	-1	RCV002966312;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251355	117251355	NC_000011.9:g.117251355A>G	-
NM_014956.5(CEP164):c.1353C>T (p.Asp451=)	22897	CEP164	Likely benign	-1	RCV002712063;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251365	117251365		-
NM_014956.5(CEP164):c.1362C>T (p.Ser454=)	22897	CEP164	Likely benign	1163809267	RCV001424356;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251374	117251374	117251374	-
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly)	22897	CEP164	Uncertain significance	2136117768	RCV001996648;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251382	117251382	117251382	-
NM_014956.5(CEP164):c.1380G>A (p.Gln460=)	22897	CEP164	Likely benign	559473249	RCV002125241;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251392	117251392	117251392	-
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala)	22897	CEP164	Uncertain significance	2136118190	RCV001918884;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251409	117251409	117251409	-
NM_014956.5(CEP164):c.1399C>T (p.Leu467=)	22897	CEP164	Benign/Likely benign	528252533	RCV001512651;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251411	117251411	117251411	-
NM_014956.5(CEP164):c.1401G>A (p.Leu467=)	22897	CEP164	Likely benign	138093785	RCV001424804;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251413	117251413	117251413	-
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys)	22897	CEP164	Uncertain significance	2043218577	RCV001221163;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251414	117251414	11:g.117251414G>A	-
NM_014956.5(CEP164):c.1409+2T>C	22897	CEP164	Likely pathogenic	-1	RCV003052213;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251423	117251423	NC_000011.9:g.117251423T>C	-
NM_014956.5(CEP164):c.1409+3A>T	22897	CEP164	Uncertain significance	-1	RCV002591407;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251424	117251424	NC_000011.9:g.117251424A>T	-
NM_014956.5(CEP164):c.1409+6A>G	22897	CEP164	Uncertain significance	762497915	RCV001227717;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251427	117251427	11:g.117251427A>G	-
NM_014956.5(CEP164):c.1409+10G>A	22897	CEP164	Benign/Likely benign	199783386	RCV001336219;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251431	117251431	11:g.117251431G>A	ClinGen:CA6294732	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1409+11T>A	22897	CEP164	Likely benign	-1	RCV003110464;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251432	117251432	NC_000011.9:g.117251432T>A	-
NM_014956.5(CEP164):c.1409+15A>G	22897	CEP164	Likely benign	2136118708	RCV002129969;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251436	117251436	117251436	-
NM_014956.5(CEP164):c.1409+17G>T	22897	CEP164	Likely benign	773833785	RCV002081938;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117251438	117251438	117251438	-
NM_014956.5(CEP164):c.1410-20G>A	22897	CEP164	Likely benign	749252841	RCV001487416;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252397	117252397	117252397	-
NM_014956.5(CEP164):c.1410-12C>T	22897	CEP164	Likely benign	779681613	RCV002101794;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252405	117252405	117252405	-
NM_014956.5(CEP164):c.1410-11G>T	22897	CEP164	Likely benign	537713728	RCV001425065;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252406	117252406	117252406	-
NM_014956.5(CEP164):c.1410-11G>A	22897	CEP164	Uncertain significance	537713728	RCV001915352;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252406	117252406	117252406	-
NM_014956.5(CEP164):c.1410-2A>G	22897	CEP164	Benign	200074826	RCV001523166;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252415	117252415	117252415	-
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)	22897	CEP164	Uncertain significance	-1	RCV002589345;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252417	117252417		-
NM_014956.5(CEP164):c.1413A>G (p.Leu471=)	22897	CEP164	Likely benign	1196721000	RCV001487142;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252420	117252420	117252420	-
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser)	22897	CEP164	Uncertain significance	1481684034	RCV001246451;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252424	117252424	11:g.117252424C>T	-
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)	22897	CEP164	Uncertain significance	-1	RCV003031065;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252428	117252428	NC_000011.9:g.117252428C>T	-
NM_014956.5(CEP164):c.1430A>G (p.His477Arg)	22897	CEP164	Benign	117083334	RCV000174578\|RCV000547589;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252437	117252437	11:g.117252437A>G	ClinGen:CA201063	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1431C>T (p.His477=)	22897	CEP164	Likely benign	539441637	RCV001425666;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252438	117252438	117252438	-
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys)	22897	CEP164	Uncertain significance	1565542472	RCV001320034;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252439	117252439	117252439	-
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)	22897	CEP164	Conflicting interpretations of pathogenicity	112209873	RCV000284554\|RCV001087069;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252445	117252445	11:g.117252445C>T	ClinGen:CA6294759	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)	22897	CEP164	Uncertain significance	573209223	RCV001238908;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252446	117252446	11:g.117252446G>A	-
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter)	22897	CEP164	Pathogenic	2136139535	RCV001942109;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252451	117252451	117252451	-
NM_014956.5(CEP164):c.1452C>T (p.Pro484=)	22897	CEP164	Likely benign	373736623	RCV001424707;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252459	117252459	11:g.117252459C>T	ClinGen:CA6294761	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg)	22897	CEP164	Uncertain significance	1277555628	RCV001315483;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252461	117252461	117252461	-
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)	22897	CEP164	Uncertain significance	-1	RCV002766832;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252461	117252461	NC_000011.9:g.117252461C>T	-
NM_014956.5(CEP164):c.1457G>A (p.Arg486His)	22897	CEP164	Uncertain significance	545471229	RCV002032262;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252464	117252464	117252464	-
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val)	22897	CEP164	Uncertain significance	868163339	RCV001347621;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252473	117252473	117252473	-
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)	22897	CEP164	Uncertain significance	757278608	RCV001051266;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252481	117252481	11:g.117252481G>A	-
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln)	22897	CEP164	Uncertain significance	2136140136	RCV002028710\|RCV003303625;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117252484	117252484	117252484	-
NM_014956.5(CEP164):c.1481dup (p.Pro495fs)	22897	CEP164	Pathogenic	752518735	RCV001306862;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252486	117252487	117252486	-
NM_014956.5(CEP164):c.1479G>A (p.Glu493=)	22897	CEP164	Likely benign	778285049	RCV001505175;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252486	117252486	117252486	-
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr)	22897	CEP164	Benign	114396665	RCV000650290;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252487	117252487	NC_000011.9:g.117252487C>A	ClinGen:CA6294768	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser)	22897	CEP164	Uncertain significance	114396665	RCV001052930;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252487	117252487	11:g.117252487C>T	-
NM_014956.5(CEP164):c.1482T>C (p.Pro494=)	22897	CEP164	Benign	897836	RCV000248151\|RCV001511274\|RCV001668538;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117252489	117252489	NC_000011.9:g.117252489T>C	ClinGen:CA6294773	CN169374 not specified;
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg)	22897	CEP164	Benign	59763167	RCV000224518\|RCV001520624;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252491	117252491	11:g.117252491C>G	ClinGen:CA6294774	CN517202 not provided;
NM_014956.5(CEP164):c.1491C>T (p.Gly497=)	22897	CEP164	Likely benign	762218626	RCV001443757;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252498	117252498	117252498	-
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr)	22897	CEP164	Uncertain significance	765811586	RCV001304117;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252499	117252499	117252499	-
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)	22897	CEP164	Uncertain significance	773140295	RCV001202628;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252500	117252500	11:g.117252500C>T	-
NM_014956.5(CEP164):c.1494C>T (p.Pro498=)	22897	CEP164	Likely benign	-1	RCV002715486;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252501	117252501		-
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys)	22897	CEP164	Uncertain significance	763039493	RCV001238710;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252502	117252502	11:g.117252502G>A	-
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg)	22897	CEP164	Uncertain significance	375085754	RCV001240761;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252509	117252509	11:g.117252509A>G	-
NM_014956.5(CEP164):c.1506C>T (p.Pro502=)	22897	CEP164	Likely benign	369224299	RCV001470565;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252513	117252513	117252513	-
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys)	22897	CEP164	Uncertain significance	763864742	RCV001064503;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252514	117252514	11:g.117252514G>A	-
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val)	22897	CEP164	Uncertain significance	1293561746	RCV001874792;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252515	117252515	117252515	-
NM_014956.5(CEP164):c.1530T>C (p.Leu510=)	22897	CEP164	Likely benign	-1	RCV003074945;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252537	117252537		-
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe)	22897	CEP164	Uncertain significance	2043350919	RCV001988005;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252559	117252559	117252559	-
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)	22897	CEP164	Uncertain significance	-1	RCV002295670;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252560	117252560	117252560	-
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr)	22897	CEP164	Uncertain significance	997835172	RCV001324351;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252575	117252575	117252575	-
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe)	22897	CEP164	Uncertain significance	997835172	RCV001937807;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252575	117252575	117252575	-
NM_014956.5(CEP164):c.1569C>G (p.Ser523=)	22897	CEP164	Likely benign	747829353	RCV001415538;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252576	117252576	117252576	-
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)	22897	CEP164	Pathogenic	387907311	RCV000030836;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252580	117252580	11:g.117252580C>T	ClinGen:CA130151,OMIM:614848.0004	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg)	22897	CEP164	Uncertain significance	778958469	RCV001914091\|RCV003375446;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117252581	117252581	117252581	-
NM_014956.5(CEP164):c.1577+9G>A	22897	CEP164	Likely benign	953315440	RCV001478334;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252593	117252593	117252593	-
NM_014956.5(CEP164):c.1577+17G>A	22897	CEP164	Likely benign	1382927463	RCV001470031;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252601	117252601	117252601	-
NM_014956.5(CEP164):c.1577+19A>T	22897	CEP164	Likely benign	-1	RCV002877165;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252603	117252603	NC_000011.9:g.117252603A>T	-
NM_014956.5(CEP164):c.1577+20T>C	22897	CEP164	Likely benign	-1	RCV003027143;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117252604	117252604	NC_000011.9:g.117252604T>C	-
NC_000011.9:g.(?_117253375)_(117257939_?)del	22897	CEP164	Likely pathogenic	-1	RCV003119462;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253375	117257939		-
NM_014956.5(CEP164):c.1578-17T>G	22897	CEP164	Likely benign	2136164009	RCV002072694;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253495	117253495	117253495	-
NM_014956.5(CEP164):c.1578-6A>C	22897	CEP164	Likely benign	-1	RCV002766932;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253506	117253506	NC_000011.9:g.117253506A>C	-
NM_014956.5(CEP164):c.1578-4C>T	22897	CEP164	Likely benign	-1	RCV002875900;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253508	117253508	NC_000011.9:g.117253508C>T	-
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)	22897	CEP164	Uncertain significance	-1	RCV003108863;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253523	117253523	NC_000011.9:g.117253523C>T	-
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu)	22897	CEP164	Uncertain significance	761621131	RCV001351932;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253532	117253532	117253532	-
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr)	22897	CEP164	Uncertain significance	112527080	RCV001348180;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253541	117253541	117253541	-
NM_014956.5(CEP164):c.1608T>C (p.Cys536=)	22897	CEP164	Likely benign	750310170	RCV001405112;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253542	117253542	117253542	-
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)	22897	CEP164	Uncertain significance	758286092	RCV001069196;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253549	117253549	11:g.117253549G>C	-
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser)	22897	CEP164	Uncertain significance	758286092	RCV001959231;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253549	117253549	117253549	-
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala)	22897	CEP164	Uncertain significance	200464405	RCV002029201;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253550	117253550	117253550	-
NM_014956.5(CEP164):c.1628A>G (p.His543Arg)	22897	CEP164	Uncertain significance	780941204	RCV001892510;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253562	117253562	117253562	-
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)	22897	CEP164	Uncertain significance	-1	RCV002735731;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253571	117253571	NC_000011.9:g.117253571C>T	-
NM_014956.5(CEP164):c.1638C>G (p.Ala546=)	22897	CEP164	Likely benign	144199348	RCV001392215;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253572	117253572	117253572	-
NM_014956.5(CEP164):c.1638C>T (p.Ala546=)	22897	CEP164	Likely benign	144199348	RCV002210485;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253572	117253572	117253572	-
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys)	22897	CEP164	Benign	116343381	RCV000174774\|RCV000650287;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253573	117253573	11:g.117253573G>A	ClinGen:CA240341	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1647G>A (p.Leu549=)	22897	CEP164	Likely benign	1248770335	RCV002114882;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253581	117253581	117253581	-
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)	22897	CEP164	Uncertain significance	943322658	RCV001052018;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253600	117253600	11:g.117253600G>A	-
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu)	22897	CEP164	Uncertain significance	1053615798	RCV001314177;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253601	117253601	117253601	-
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)	22897	CEP164	Pathogenic/Likely pathogenic	749114363	RCV001946926;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253602	117253603	117253602	-
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)	22897	CEP164	Uncertain significance	-1	RCV002651097;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253603	117253603	NC_000011.9:g.117253603G>A	-
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del)	22897	CEP164	Uncertain significance	771007283	RCV001890583;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253612	117253614	117253611	-
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val)	22897	CEP164	Likely benign	144557388	RCV000953996;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253625	117253625	11:g.117253625C>T	-
NM_014956.5(CEP164):c.1692G>A (p.Ala564=)	22897	CEP164	Likely benign	143512199	RCV000540600;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253626	117253626	11:g.117253626G>A	ClinGen:CA6294825	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu)	22897	CEP164	Uncertain significance	1470761164	RCV002040684;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253634	117253634	117253634	-
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile)	22897	CEP164	Uncertain significance	752334538	RCV001988450;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253637	117253637	117253637	-
NM_014956.5(CEP164):c.1704C>T (p.Thr568=)	22897	CEP164	Likely benign	755780242	RCV001493509;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253638	117253638	117253638	-
NM_014956.5(CEP164):c.1713C>G (p.Val571=)	22897	CEP164	Likely benign	-1	RCV002928562;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253647	117253647		-
NM_014956.5(CEP164):c.1716T>A (p.Ser572=)	22897	CEP164	Likely benign	2043508189	RCV001949482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253650	117253650	117253650	-
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr)	22897	CEP164	Uncertain significance	779345917	RCV001360835;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253651	117253651	117253651	-
NM_014956.5(CEP164):c.1724+1G>A	22897	CEP164	Likely pathogenic	1489883516	RCV001369400;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253659	117253659	117253659	-
NM_014956.5(CEP164):c.1724+11G>T	22897	CEP164	Likely benign	-1	RCV002810784;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253669	117253669	NC_000011.9:g.117253669G>T	-
NM_014956.5(CEP164):c.1724+15TG[2]	22897	CEP164	Likely benign	2136168451	RCV002168670;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253673	117253674	117253672	-
NM_014956.5(CEP164):c.1724+18G>A	22897	CEP164	Likely benign	763203356	RCV002193073;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117253676	117253676	117253676	-
NM_014956.5(CEP164):c.1725-13C>T	22897	CEP164	Likely benign	-1	RCV003110631;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257906	117257906	NC_000011.9:g.117257906C>T	-
NM_014956.5(CEP164):c.1725-4G>A	22897	CEP164	Likely benign	2136244171	RCV002085381;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257915	117257915	117257915	-
NM_014956.5(CEP164):c.1725-3T>C	22897	CEP164	Uncertain significance	940650344	RCV002033648;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257916	117257916	117257916	-
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)	22897	CEP164	Pathogenic	145646425	RCV000030837;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257920	117257920	11:g.117257920C>T	ClinGen:CA130153,OMIM:614848.0005	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln)	22897	CEP164	Conflicting interpretations of pathogenicity	757579833	RCV001303336\|RCV002539520;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117257921	117257921	117257921	-
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu)	22897	CEP164	Uncertain significance	757579833	RCV001347042;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257921	117257921	117257921	-
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)	22897	CEP164	Uncertain significance	-1	RCV003118721;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257927	117257927	NC_000011.9:g.117257927C>T	-
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly)	22897	CEP164	Uncertain significance	2136244485	RCV001907284;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257930	117257930	117257930	-
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr)	22897	CEP164	Uncertain significance	758890143	RCV001300901;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257932	117257932	117257932	-
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala)	22897	CEP164	Uncertain significance	865780691	RCV002013099;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257941	117257941	117257941	-
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln)	22897	CEP164	Uncertain significance	1565560519	RCV001966366;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257945	117257945	117257945	-
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe)	22897	CEP164	Uncertain significance	923498039	RCV001888714\|RCV002300617;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117257953	117257953	117257953	-
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln)	22897	CEP164	Uncertain significance	143553347	RCV001227622;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257959	117257959	11:g.117257959G>C	-
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly)	22897	CEP164	Uncertain significance	2136244992	RCV001366030;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257960	117257960	117257960	-
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)	22897	CEP164	Uncertain significance	-1	RCV003051353;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257965	117257965	NC_000011.9:g.117257965G>A	-
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)	22897	CEP164	Uncertain significance	-1	RCV002635180\|RCV002642274;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257977	117257977	NC_000011.9:g.117257977A>G	-
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr)	22897	CEP164	Uncertain significance	150956860	RCV001321318;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257986	117257986	117257986	-
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser)	22897	CEP164	Uncertain significance	150956860	RCV001344432;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117257986	117257986	117257986	-
NM_014956.5(CEP164):c.1809C>T (p.Leu603=)	22897	CEP164	Likely benign	372777703	RCV001415886;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258003	117258003	117258003	-
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys)	22897	CEP164	Uncertain significance	187622644	RCV001036851\|RCV002552467;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117258004	117258004	11:g.117258004G>A	-
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp)	22897	CEP164	Uncertain significance	1222181370	RCV001927234;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258006	117258006	117258006	-
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)	22897	CEP164	Pathogenic	-1	RCV002988558;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258013	117258013	NC_000011.9:g.117258013C>T	-
NM_014956.5(CEP164):c.1830G>C (p.Leu610=)	22897	CEP164	Likely benign	-1	RCV003038256;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258024	117258024		-
NM_014956.5(CEP164):c.1839C>T (p.Ser613=)	22897	CEP164	Likely benign	-1	RCV003081689;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258033	117258033		-
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr)	22897	CEP164	Uncertain significance	142108558	RCV001323955\|RCV002286836;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117258047	117258047	117258047	-
NM_014956.5(CEP164):c.1860A>T (p.Gln620His)	22897	CEP164	Uncertain significance	745707423	RCV001899901\|RCV002548037;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117258054	117258054	117258054	-
NM_014956.5(CEP164):c.1863G>A (p.Leu621=)	22897	CEP164	Likely benign	775253337	RCV001427864;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258057	117258057	11:g.117258057G>A	-
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp)	22897	CEP164	Uncertain significance	760666687	RCV001204440;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258058	117258058	11:g.117258058C>T	-
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln)	22897	CEP164	Uncertain significance	183392900	RCV001043059;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258059	117258059	11:g.117258059G>A	-
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)	22897	CEP164	Uncertain significance	-1	RCV002300094;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258078	117258078	117258078	-
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln)	22897	CEP164	Uncertain significance	763183525	RCV002024389;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258098	117258098	117258098	-
NM_014956.5(CEP164):c.1909C>A (p.His637Asn)	22897	CEP164	Uncertain significance	2044090246	RCV001925636;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258103	117258103	117258103	-
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys)	22897	CEP164	Uncertain significance	2044090670	RCV001352328\|RCV002547555;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117258109	117258109	117258109	-
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp)	22897	CEP164	Uncertain significance	1435675301	RCV001880298;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258117	117258117	117258117	-
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe)	22897	CEP164	Uncertain significance	2136247338	RCV001900189;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258122	117258122	117258122	-
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe)	22897	CEP164	Uncertain significance	1445485693	RCV001900336;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258124	117258124	117258124	-
NM_014956.5(CEP164):c.1934+1G>A	22897	CEP164	Likely pathogenic	951827564	RCV001352557;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258129	117258129	117258129	-
NM_014956.5(CEP164):c.1934+3C>T	22897	CEP164	Uncertain significance	369584565	RCV001057928;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258131	117258131	11:g.117258131C>T	-
NM_014956.5(CEP164):c.1934+12C>T	22897	CEP164	Likely benign	952168733	RCV002163260;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258140	117258140	117258140	-
NM_014956.5(CEP164):c.1934+14C>T	22897	CEP164	Likely benign	2136247656	RCV002076871;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117258142	117258142	117258142	-
NM_014956.5(CEP164):c.1935-20G>A	22897	CEP164	Likely benign	200518210	RCV002110940;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261473	117261473	117261473	-
NM_014956.5(CEP164):c.1935-15del	22897	CEP164	Likely benign	-1	RCV002650372;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261476	117261476	NC_000011.9:g.117261478del	-
NM_014956.5(CEP164):c.1935-14C>T	22897	CEP164	Likely benign	2044543490	RCV002087690;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261479	117261479	117261479	-
NM_014956.5(CEP164):c.1935-8C>T	22897	CEP164	Likely benign	-1	RCV002819460;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261485	117261485	NC_000011.9:g.117261485C>T	-
NM_014956.5(CEP164):c.1935-5C>G	22897	CEP164	Benign	897837	RCV000251290\|RCV001511797\|RCV001683073;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117261488	117261488	NC_000011.9:g.117261488C>G	ClinGen:CA6294911	CN169374 not specified;
NM_014956.5(CEP164):c.1947G>A (p.Glu649=)	22897	CEP164	Likely benign	-1	RCV002975569;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261505	117261505		-
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp)	22897	CEP164	Uncertain significance	145755063	RCV001991113;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261506	117261506	117261506	-
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)	22897	CEP164	Uncertain significance	-1	RCV002676287;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261507	117261507	NC_000011.9:g.117261507G>A	-
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys)	22897	CEP164	Uncertain significance	746865666	RCV001207089;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261524	117261524	11:g.117261524G>A	-
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del)	22897	CEP164	Uncertain significance	1393409770	RCV001982488;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261524	117261526	117261523	-
NM_014956.5(CEP164):c.1980C>A (p.Ala660=)	22897	CEP164	Likely benign	-1	RCV002796106;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261538	117261538		-
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp)	22897	CEP164	Uncertain significance	201175046	RCV001294304;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261539	117261539	117261539	-
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln)	22897	CEP164	Uncertain significance	781063589	RCV001053453\|RCV002553320;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117261540	117261540	11:g.117261540G>A	-
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)	22897	CEP164	Uncertain significance	-1	RCV002622822;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261548	117261548	NC_000011.9:g.117261548G>C	-
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter)	22897	CEP164	Pathogenic	2136318333	RCV001939395;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261554	117261554	117261554	-
NM_014956.5(CEP164):c.1998A>G (p.Glu666=)	22897	CEP164	Likely benign	-1	RCV002885183;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261556	117261556		-
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)	22897	CEP164	Uncertain significance	375310104	RCV001067442;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261560	117261560	11:g.117261560C>A	-
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)	22897	CEP164	Pathogenic	963142616	RCV001236565;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261578	117261578	11:g.117261578C>T	-
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln)	22897	CEP164	Likely benign	142184414	RCV000945423;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261579	117261579	11:g.117261579G>A	-
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro)	22897	CEP164	Uncertain significance	776074093	RCV001065027;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261585	117261585	11:g.117261585A>C	-
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)	22897	CEP164	Pathogenic	-1	RCV002993781;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261602	117261602	NC_000011.9:g.117261602C>T	-
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)	22897	CEP164	Uncertain significance	-1	RCV002785501;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261623	117261623	NC_000011.9:g.117261623A>G	-
NM_014956.5(CEP164):c.2066+1G>A	22897	CEP164	Likely pathogenic	1279037770	RCV002035194;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261625	117261625	117261625	-
NM_014956.5(CEP164):c.2066+4A>G	22897	CEP164	Uncertain significance	577854690	RCV001991764;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261628	117261628	117261628	-
NM_014956.5(CEP164):c.2066+9G>A	22897	CEP164	Likely benign	374648188	RCV002095818;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261633	117261633	117261633	-
NM_014956.5(CEP164):c.2066+11_2066+12del	22897	CEP164	Likely benign	-1	RCV002620950;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261635	117261636	NC_000011.9:g.117261635_117261636del	-
NM_014956.5(CEP164):c.2066+20T>C	22897	CEP164	Likely benign	2136319924	RCV002138699;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261644	117261644	117261644	-
NM_014956.5(CEP164):c.2067-16C>T	22897	CEP164	Likely benign	758674918	RCV001394775;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261699	117261699	117261699	-
NM_014956.5(CEP164):c.2067-15A>G	22897	CEP164	Likely benign	767292266	RCV002197084;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261700	117261700	117261700	-
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe)	22897	CEP164	Uncertain significance	749213655	RCV001312963;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261732	117261732	117261732	-
NM_014956.5(CEP164):c.2086C>T (p.Leu696=)	22897	CEP164	Likely benign	934960506	RCV001457057;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261734	117261734	117261734	-
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys)	22897	CEP164	Uncertain significance	1332049981	RCV001243409;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261737	117261737	11:g.117261737C>A	-
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp)	22897	CEP164	Uncertain significance	778301430	RCV001242775;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261760	117261760	11:g.117261760G>C	-
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr)	22897	CEP164	Uncertain significance	2136323032	RCV001967044;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261761	117261761	117261761	-
NM_014956.5(CEP164):c.2118A>G (p.Gln706=)	22897	CEP164	Likely benign	771918921	RCV002116663;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261766	117261766	117261766	-
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu)	22897	CEP164	Uncertain significance	780538516	RCV001343538;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261768	117261768	117261768	-
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val)	22897	CEP164	Uncertain significance	2136323172	RCV002047027;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261774	117261774	117261774	-
NM_014956.5(CEP164):c.2133G>A (p.Arg711=)	22897	CEP164	Likely benign	-1	RCV003050720;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261781	117261781		-
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile)	22897	CEP164	Uncertain significance	369322915	RCV001341092;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261801	117261801	117261801	-
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)	22897	CEP164	Uncertain significance	-1	RCV003080986;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261813	117261813	NC_000011.9:g.117261813T>C	-
NM_014956.5(CEP164):c.2184G>A (p.Glu728=)	22897	CEP164	Likely benign	-1	RCV002780810;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261832	117261832		-
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)	22897	CEP164	Uncertain significance	-1	RCV002922674;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261834	117261834	NC_000011.9:g.117261834T>G	-
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys)	22897	CEP164	Uncertain significance	2136324049	RCV001967922;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261836	117261836	117261836	-
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)	22897	CEP164	Uncertain significance	559070007	RCV001235555\|RCV002563828;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117261843	117261843	11:g.117261843C>T	-
NM_014956.5(CEP164):c.2196G>A (p.Ser732=)	22897	CEP164	Likely benign	139610925	RCV002204627;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261844	117261844	117261844	-
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly)	22897	CEP164	Uncertain significance	746693932	RCV001210038;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261846	117261846	11:g.117261846A>G	-
NM_014956.5(CEP164):c.2199G>A (p.Glu733=)	22897	CEP164	Likely benign	2136324303	RCV002207069;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261847	117261847	117261847	-
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)	22897	CEP164	Uncertain significance	-1	RCV002622571;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261849	117261849	NC_000011.9:g.117261849A>C	-
NM_014956.5(CEP164):c.2205C>T (p.Ser735=)	22897	CEP164	Benign	494553	RCV000248695\|RCV000555742\|RCV001711822;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117261853	117261853	NC_000011.9:g.117261853C>T	ClinGen:CA6294991	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys)	22897	CEP164	Uncertain significance	146053426	RCV001047271;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261854	117261854	11:g.117261854G>A	-
NM_014956.5(CEP164):c.2208G>A (p.Glu736=)	22897	CEP164	Likely benign	762963600	RCV002173231;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261856	117261856	117261856	-
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)	22897	CEP164	Pathogenic/Likely pathogenic	562932233	RCV001247354;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261857	117261857	11:g.117261857C>T	-
NM_014956.5(CEP164):c.2229A>G (p.Ala743=)	22897	CEP164	Likely benign	-1	RCV002572939;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261877	117261877		-
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)	22897	CEP164	Uncertain significance	-1	RCV003061613;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261879	117261881	NC_000011.9:g.117261881_117261883del	-
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val)	22897	CEP164	Uncertain significance	763926600	RCV001988403;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261890	117261890	117261890	-
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys)	22897	CEP164	Uncertain significance	753614257	RCV001362652;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261903	117261903	117261903	-
NM_014956.5(CEP164):c.2259G>A (p.Glu753=)	22897	CEP164	Likely benign	761803143	RCV002077497;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261907	117261907	117261907	-
NM_014956.5(CEP164):c.2268A>G (p.Glu756=)	22897	CEP164	Likely benign	750395570	RCV002142368;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261916	117261916	117261916	-
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg)	22897	CEP164	Uncertain significance	757911593	RCV001917183;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261917	117261917	117261917	-
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)	22897	CEP164	Uncertain significance	-1	RCV002653688;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261920	117261920	NC_000011.9:g.117261920G>A	-
NM_014956.5(CEP164):c.2283+1G>C	22897	CEP164	Likely pathogenic	-1	RCV003017500;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261932	117261932	NC_000011.9:g.117261932G>C	-
NM_014956.5(CEP164):c.2283+2T>C	22897	CEP164	Likely pathogenic	1459158279	RCV001055384;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261933	117261933	11:g.117261933T>C	-
NM_014956.5(CEP164):c.2283+14G>T	22897	CEP164	Likely benign	545525973	RCV002112875;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261945	117261945	117261945	-
NM_014956.5(CEP164):c.2284-18C>T	22897	CEP164	Likely benign	1423509328	RCV002096849;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262924	117262924	117262924	-
NM_014956.5(CEP164):c.2284-16C>T	22897	CEP164	Likely benign	-1	RCV002623933;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262926	117262926	NC_000011.9:g.117262926C>T	-
NM_014956.5(CEP164):c.2284-8C>G	22897	CEP164	Likely benign	761454104	RCV002210737;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262934	117262934	117262934	-
NM_014956.5(CEP164):c.2284-6C>T	22897	CEP164	Likely benign	-1	RCV002672230;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262936	117262936	NC_000011.9:g.117262936C>T	-
NM_014956.5(CEP164):c.2284-1G>A	22897	CEP164	Likely pathogenic	1391874809	RCV002038106;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262941	117262941	117262941	-
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)	22897	CEP164	Uncertain significance	-1	RCV002943749;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262948	117262948	NC_000011.9:g.117262948G>A	-
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met)	22897	CEP164	Uncertain significance	140009020	RCV001244227;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262952	117262952	11:g.117262952C>T	-
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)	22897	CEP164	Uncertain significance	-1	RCV002614839;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262961	117262961	NC_000011.9:g.117262961A>G	-
NM_014956.5(CEP164):c.2311A>G (p.Ser771Gly)	22897	CEP164	Likely benign	143601082	RCV001405525;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262969	117262969	117262969	-
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr)	22897	CEP164	Uncertain significance	1565578311	RCV001359499;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262970	117262970	117262970	-
NM_014956.5(CEP164):c.2320C>T (p.Leu774=)	22897	CEP164	Likely benign	-1	RCV002885635;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262978	117262978		-
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp)	22897	CEP164	Uncertain significance	377437628	RCV002031342;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262984	117262984	117262984	-
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)	22897	CEP164	Uncertain significance	-1	RCV003054951;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262985	117262985	NC_000011.9:g.117262985G>C	-
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)	22897	CEP164	Uncertain significance	138384561	RCV001055755\|RCV003320800;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117262997	117262997	11:g.117262997C>T	-
NM_014956.5(CEP164):c.2340A>G (p.Ser780=)	22897	CEP164	Likely benign	908435695	RCV001475256;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262998	117262998	117262998	-
NM_014956.5(CEP164):c.2341T>C (p.Leu781=)	22897	CEP164	Likely benign	-1	RCV002852653;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117262999	117262999		-
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp)	22897	CEP164	Uncertain significance	139225491	RCV001339482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263014	117263014	117263014	-
NM_014956.5(CEP164):c.2358G>A (p.Arg786=)	22897	CEP164	Likely benign	2136351691	RCV001404921;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263016	117263016	117263016	-
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)	22897	CEP164	Uncertain significance	-1	RCV002654980;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263017	117263017	NC_000011.9:g.117263017G>A	-
NM_014956.5(CEP164):c.2361+1G>A	22897	CEP164	Likely pathogenic	-1	RCV002889498;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263020	117263020	NC_000011.9:g.117263020G>A	-
NM_014956.5(CEP164):c.2361+12C>T	22897	CEP164	Likely benign	-1	RCV002848469;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263031	117263031	NC_000011.9:g.117263031C>T	-
NM_014956.5(CEP164):c.2361+15C>T	22897	CEP164	Likely benign	775505362	RCV002102604;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263034	117263034	117263034	-
NM_014956.5(CEP164):c.2361+16C>T	22897	CEP164	Likely benign	2044762724	RCV002138684;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263035	117263035	117263035	-
NM_014956.5(CEP164):c.2362-15C>T	22897	CEP164	Benign/Likely benign	201819583	RCV001520076;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263197	117263197	117263197	-
NM_014956.5(CEP164):c.2362-10dup	22897	CEP164	Uncertain significance	1565579377	RCV001911568;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263197	117263198	117263197	-
NM_014956.5(CEP164):c.2362-14G>A	22897	CEP164	Uncertain significance	1035815151	RCV001888599;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263198	117263198	117263198	-
NM_014956.5(CEP164):c.2362G>A (p.Val788Met)	22897	CEP164	Uncertain significance	2044795731	RCV001035489;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263212	117263212	11:g.117263212G>A	-
NM_014956.5(CEP164):c.2367C>G (p.Val789=)	22897	CEP164	Likely benign	747171653	RCV001482837;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263217	117263217	117263217	-
NM_014956.5(CEP164):c.2367C>T (p.Val789=)	22897	CEP164	Likely benign	747171653	RCV002090672;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263217	117263217	117263217	-
NM_014956.5(CEP164):c.2376C>T (p.Leu792=)	22897	CEP164	Likely benign	2044797581	RCV002203992;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263226	117263226	117263226	-
NM_014956.5(CEP164):c.2379G>A (p.Gln793=)	22897	CEP164	Likely benign	190692742	RCV001417014;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263229	117263229	117263229	-
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val)	22897	CEP164	Uncertain significance	555087707	RCV001921176;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263264	117263264	117263264	-
NM_014956.5(CEP164):c.2418G>A (p.Gln806=)	22897	CEP164	Likely benign	759540777	RCV002163017;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263268	117263268	117263268	-
NM_014956.5(CEP164):c.2427G>A (p.Lys809=)	22897	CEP164	Likely benign	201002987	RCV000529641;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263277	117263277	NC_000011.9:g.117263277G>A	ClinGen:CA6295062	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)	22897	CEP164	Uncertain significance	-1	RCV002731099;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263281	117263281	NC_000011.9:g.117263281C>T	-
NM_014956.5(CEP164):c.2448C>T (p.His816=)	22897	CEP164	Likely benign	183208808	RCV001503898;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263298	117263298	117263298	-
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)	22897	CEP164	Uncertain significance	-1	RCV003009783;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263301	117263301	NC_000011.9:g.117263301A>C	-
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala)	22897	CEP164	Uncertain significance	750842640	RCV001314704;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263314	117263314	117263314	-
NM_014956.5(CEP164):c.2466T>C (p.Ser822=)	22897	CEP164	Benign/Likely benign	563608251	RCV000902850;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263316	117263316	11:g.117263316T>C	-
NM_014956.5(CEP164):c.2466T>G (p.Ser822=)	22897	CEP164	Likely benign	563608251	RCV002157547;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263316	117263316	117263316	-
NM_014956.5(CEP164):c.2469T>C (p.Tyr823=)	22897	CEP164	Likely benign	779997647	RCV002117333;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263319	117263319	117263319	-
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)	22897	CEP164	Uncertain significance	-1	RCV002819991;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263322	117263322	NC_000011.9:g.117263322C>A	-
NM_014956.5(CEP164):c.2473G>A (p.Val825Met)	22897	CEP164	Uncertain significance	373870559	RCV002043044;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263323	117263323	117263323	-
NM_014956.5(CEP164):c.2478T>G (p.Ala826=)	22897	CEP164	Likely benign	2136360090	RCV002159434;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263328	117263328	117263328	-
NM_014956.5(CEP164):c.2490C>G (p.His830Gln)	22897	CEP164	Uncertain significance	532278621	RCV001343898;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263340	117263340	117263340	-
NM_014956.5(CEP164):c.2490C>T (p.His830=)	22897	CEP164	Likely benign	-1	RCV003072612;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263340	117263340		-
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys)	22897	CEP164	Uncertain significance	977065085	RCV001944413;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263341	117263341	117263341	-
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)	22897	CEP164	Uncertain significance	-1	RCV002746340;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263342	117263342	NC_000011.9:g.117263342A>G	-
NM_014956.5(CEP164):c.2493+1G>A	22897	CEP164	Likely pathogenic	778819060	RCV000701490;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263344	117263344	11:g.117263344G>A	-	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2493+8C>T	22897	CEP164	Likely benign	-1	RCV003083539;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263351	117263351	NC_000011.9:g.117263351C>T	-
NM_014956.5(CEP164):c.2493+16T>C	22897	CEP164	Likely benign	772114437	RCV002179051;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263359	117263359	117263359	-
NM_014956.5(CEP164):c.2494-9C>T	22897	CEP164	Likely benign	373873905	RCV001425164;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263711	117263711	117263711	-
NM_014956.5(CEP164):c.2494-3C>T	22897	CEP164	Uncertain significance	763312597	RCV001058270;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263717	117263717	11:g.117263717C>T	-
NM_014956.5(CEP164):c.2505C>T (p.Leu835=)	22897	CEP164	Likely benign	1368347260	RCV001438826;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263731	117263731	117263731	-
NM_014956.5(CEP164):c.2506C>T (p.Leu836=)	22897	CEP164	Likely benign	2044887722	RCV002125694;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263732	117263732	117263732	-
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)	22897	CEP164	Pathogenic/Likely pathogenic	774951398	RCV001934553;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263735	117263735	117263735	-
NM_014956.5(CEP164):c.2509C>A (p.Arg837=)	22897	CEP164	Likely benign	-1	RCV003049545;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263735	117263735		-
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp)	22897	CEP164	Uncertain significance	1395693893	RCV001976385;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263740	117263740	117263740	-
NM_014956.5(CEP164):c.2517G>A (p.Lys839=)	22897	CEP164	Likely benign	760170526	RCV001401258;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263743	117263743	117263743	-
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)	22897	CEP164	Uncertain significance	-1	RCV002927437;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263744	117263744	NC_000011.9:g.117263744C>T	-
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)	22897	CEP164	Uncertain significance	-1	RCV003026063;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263744	117263744	NC_000011.9:g.117263744C>A	-
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu)	22897	CEP164	Conflicting interpretations of pathogenicity	201901144	RCV000883215\|RCV002539315;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117263745	117263745	11:g.117263745G>T	-
NM_014956.5(CEP164):c.2519G>A (p.Arg840His)	22897	CEP164	Uncertain significance	201901144	RCV001227522\|RCV001773516\|RCV003163771;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	11	117263745	117263745	11:g.117263745G>A	-
NM_014956.5(CEP164):c.2527G>A (p.Val843Met)	22897	CEP164	Uncertain significance	566117718	RCV001352334;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263753	117263753	117263753	-
NM_014956.5(CEP164):c.2529G>T (p.Val843=)	22897	CEP164	Likely benign	-1	RCV002736679;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263755	117263755		-
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)	22897	CEP164	Uncertain significance	-1	RCV002597676;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263756	117263756	NC_000011.9:g.117263756G>A	-
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)	22897	CEP164	Pathogenic	-1	RCV002645766;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263758	117263759	NC_000011.9:g.117263761_117263762dup	-
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)	22897	CEP164	Uncertain significance	-1	RCV003047541;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263760	117263761	NC_000011.9:g.117263760_117263761delinsAA	-
NM_014956.5(CEP164):c.2541T>C (p.His847=)	22897	CEP164	Likely benign	947190507	RCV001412382;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263767	117263767	117263767	-
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)	22897	CEP164	Uncertain significance	-1	RCV003108822;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263787	117263787	NC_000011.9:g.117263787T>C	-
NM_014956.5(CEP164):c.2562del (p.Met854fs)	22897	CEP164	Likely pathogenic	1565582604	RCV000785135;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263788	117263788	11:g.117263788_117263788del	-
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)	22897	CEP164	Uncertain significance	-1	RCV002811063;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263800	117263800	NC_000011.9:g.117263800C>A	-
NM_014956.5(CEP164):c.2583G>A (p.Val861=)	22897	CEP164	Likely benign	747640551	RCV001467194;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263809	117263809	117263809	-
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr)	22897	CEP164	Uncertain significance	371143032	RCV001323719;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263811	117263811	117263811	-
NM_014956.5(CEP164):c.2601G>A (p.Glu867=)	22897	CEP164	Likely benign	-1	RCV003052095;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263827	117263827		-
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)	22897	CEP164	Uncertain significance	774896440	RCV001232351;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263831	117263831	11:g.117263831T>C	-
NM_014956.5(CEP164):c.2607T>C (p.Tyr869=)	22897	CEP164	Likely benign	-1	RCV002574915;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263833	117263833		-
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)	22897	CEP164	Uncertain significance	-1	RCV002582858;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263835	117263835	NC_000011.9:g.117263835A>C	-
NM_014956.5(CEP164):c.2613T>C (p.Ala871=)	22897	CEP164	Likely benign	768196435	RCV002206874;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263839	117263839	117263839	-
NM_014956.5(CEP164):c.2616+1G>A	22897	CEP164	Likely pathogenic	2136378484	RCV002039923;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263843	117263843	117263843	-
NM_014956.5(CEP164):c.2616+5C>G	22897	CEP164	Uncertain significance	2136378582	RCV001368824;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263847	117263847	117263847	-
NM_014956.5(CEP164):c.2616+11C>T	22897	CEP164	Likely benign	-1	RCV002863282;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263853	117263853	NC_000011.9:g.117263853C>T	-
NM_014956.5(CEP164):c.2616+16C>A	22897	CEP164	Likely benign	-1	RCV002796650;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263858	117263858	NC_000011.9:g.117263858C>A	-
NM_014956.5(CEP164):c.2616+18C>T	22897	CEP164	Likely benign	754039492	RCV001965340;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117263860	117263860	117263860	-
NM_014956.5(CEP164):c.2617-18G>A	22897	CEP164	Likely benign	199987090	RCV001459506;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265048	117265048	117265048	-
NM_014956.5(CEP164):c.2617-17G>T	22897	CEP164	Likely benign	-1	RCV002582009;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265049	117265049	NC_000011.9:g.117265049G>T	-
NM_014956.5(CEP164):c.2617-13A>G	22897	CEP164	Likely benign	372968944	RCV001450183;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265053	117265053	117265053	-
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val)	22897	CEP164	Uncertain significance	2045131646	RCV001234980;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265067	117265067	11:g.117265067A>T	-
NM_014956.5(CEP164):c.2620A>C (p.Arg874=)	22897	CEP164	Likely benign	-1	RCV002828263;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265069	117265069		-
NM_014956.5(CEP164):c.2625G>A (p.Lys875=)	22897	CEP164	Likely benign	953747200	RCV002201496;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265074	117265074	117265074	-
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg)	22897	CEP164	Uncertain significance	752659513	RCV001338080\|RCV002546834;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117265076	117265076	117265076	-
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)	22897	CEP164	Uncertain significance	986338516	RCV001214479;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265078	117265078	11:g.117265078C>T	-
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln)	22897	CEP164	Uncertain significance	756048473	RCV001893423;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265079	117265079	117265079	-
NM_014956.5(CEP164):c.2631G>A (p.Arg877=)	22897	CEP164	Likely benign	1339335729	RCV001446771;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265080	117265080	117265080	-
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)	22897	CEP164	Uncertain significance	-1	RCV002711374;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265086	117265086	NC_000011.9:g.117265086G>C	-
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)	22897	CEP164	Uncertain significance	-1	RCV003086948;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265093	117265093	NC_000011.9:g.117265093G>C	-
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)	22897	CEP164	Uncertain significance	-1	RCV002637099;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265097	117265097	NC_000011.9:g.117265097A>C	-
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)	22897	CEP164	Uncertain significance	-1	RCV002586512;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265100	117265100	NC_000011.9:g.117265100T>G	-
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)	22897	CEP164	Uncertain significance	-1	RCV003001910;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265100	117265100	NC_000011.9:g.117265100T>C	-
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn)	22897	CEP164	Uncertain significance	753347841	RCV001338839;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265103	117265103	117265103	-
NM_014956.5(CEP164):c.2655C>T (p.Thr885=)	22897	CEP164	Benign/Likely benign	61737637	RCV000253465\|RCV000650291;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265104	117265104	NC_000011.9:g.117265104C>T	ClinGen:CA6295175	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg)	22897	CEP164	Uncertain significance	377597884	RCV001216328;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265105	117265105	11:g.117265105G>A	-
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter)	22897	CEP164	Pathogenic	377597884	RCV001314234;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265105	117265105	117265105	-
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val)	22897	CEP164	Uncertain significance	142044303	RCV000484217\|RCV001071865;	N	MedGen:CN517202\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265111	117265111	11:g.117265111C>G	ClinGen:CA6295177	CN169374 not specified;
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys)	22897	CEP164	Uncertain significance	772514202	RCV002043788;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265117	117265117	117265117	-
NM_014956.5(CEP164):c.2669G>A (p.Arg890His)	22897	CEP164	Uncertain significance	368178224	RCV001207572;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265118	117265118	11:g.117265118G>A	-
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)	22897	CEP164	Uncertain significance	-1	RCV002300848\|RCV003097872;	N	MedGen:CN517202\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265133	117265133	117265133	-
NM_014956.5(CEP164):c.2685T>C (p.His895=)	22897	CEP164	Likely benign	2136419237	RCV001442881;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265134	117265134	117265134	-
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs)	22897	CEP164	Pathogenic	1317765862	RCV001903908;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265135	117265138	117265134	-
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)	22897	CEP164	Pathogenic/Likely pathogenic	764893412	RCV000692933;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265138	117265138	NC_000011.9:g.117265138C>T	-	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln)	22897	CEP164	Uncertain significance	1387200155	RCV001927422;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265139	117265139	117265139	-
NM_014956.5(CEP164):c.2697G>A (p.Leu899=)	22897	CEP164	Likely benign	-1	RCV002837631;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265146	117265146		-
NM_014956.5(CEP164):c.2704G>A (p.Val902Met)	22897	CEP164	Uncertain significance	144279354	RCV001240210;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265153	117265153	11:g.117265153G>A	-
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)	22897	CEP164	Uncertain significance	-1	RCV002843156;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265170	117265170	NC_000011.9:g.117265170C>G	-
NM_014956.5(CEP164):c.2724G>A (p.Lys908=)	22897	CEP164	Likely benign	-1	RCV003065389;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265173	117265173		-
NM_014956.5(CEP164):c.2726G>A (p.Arg909His)	22897	CEP164	Uncertain significance	530932318	RCV001373540;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265175	117265175	117265175	-
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)	22897	CEP164	Uncertain significance	-1	RCV002998695;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265180	117265180	NC_000011.9:g.117265180G>C	-
NM_014956.5(CEP164):c.2736C>T (p.Asp912=)	22897	CEP164	Likely benign	368860298	RCV002108024;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265185	117265185	117265185	-
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly)	22897	CEP164	Uncertain significance	541217768	RCV001236609\|RCV002563867;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117265189	117265189	11:g.117265189C>G	-
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp)	22897	CEP164	Uncertain significance	541217768	RCV001338641;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265189	117265189	117265189	-
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu)	22897	CEP164	Uncertain significance	550799764	RCV001238163;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265190	117265190	11:g.117265190G>T	-
NM_014956.5(CEP164):c.2744G>A (p.Arg915His)	22897	CEP164	Conflicting interpretations of pathogenicity	147802563	RCV000905924\|RCV002537594;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117265193	117265193	11:g.117265193G>A	-
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp)	22897	CEP164	Uncertain significance	1055666351	RCV001346377;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265195	117265195	117265195	-
NM_014956.5(CEP164):c.2746C>A (p.Arg916=)	22897	CEP164	Uncertain significance	1055666351	RCV001980115;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265195	117265195	117265195	-
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro)	22897	CEP164	Uncertain significance	748681315	RCV001894878;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265196	117265196	117265196	-
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)	22897	CEP164	Uncertain significance	-1	RCV003115008;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265196	117265196	NC_000011.9:g.117265196G>A	-
NM_014956.5(CEP164):c.2754G>A (p.Arg918=)	22897	CEP164	Likely benign	-1	RCV002775333;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265203	117265203		-
NM_014956.5(CEP164):c.2760+1G>T	22897	CEP164	Likely pathogenic	1269878493	RCV001318691;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265210	117265210	117265210	-
NM_014956.5(CEP164):c.2760+10C>T	22897	CEP164	Likely benign	1441985433	RCV001479213;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265219	117265219	11:g.117265219C>T	-
NM_014956.5(CEP164):c.2760+18G>T	22897	CEP164	Likely benign	-1	RCV002612000;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265227	117265227	NC_000011.9:g.117265227G>T	-
NM_014956.5(CEP164):c.2760+19G>C	22897	CEP164	Likely benign	-1	RCV002654300;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265228	117265228	NC_000011.9:g.117265228G>C	-
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)	22897	CEP164	Uncertain significance	-1	RCV003050716;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265636	117265636	NC_000011.9:g.117265636G>A	-
NM_014956.5(CEP164):c.2769G>A (p.Lys923=)	22897	CEP164	Likely benign	758053625	RCV002144668;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265644	117265644	117265644	-
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)	22897	CEP164	Uncertain significance	-1	RCV003065301\|RCV003081313;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117265644	117265644	NC_000011.9:g.117265644G>C	-
NM_014956.5(CEP164):c.2772C>G (p.Leu924=)	22897	CEP164	Benign/Likely benign	117473319	RCV000245248\|RCV000625375\|RCV001706350;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117265647	117265647	NC_000011.9:g.117265647C>G	ClinGen:CA6295216	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2776G>C (p.Asp926His)	22897	CEP164	Uncertain significance	751259435	RCV001977368;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265651	117265651	117265651	-
NM_014956.5(CEP164):c.2781A>G (p.Leu927=)	22897	CEP164	Likely benign	-1	RCV002631840;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265656	117265656		-
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)	22897	CEP164	Uncertain significance	143446218	RCV000794939\|RCV002536989;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117265659	117265659	11:g.117265659G>T	-
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)	22897	CEP164	Uncertain significance	-1	RCV002750275;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265662	117265662	NC_000011.9:g.117265662G>C	-
NM_014956.5(CEP164):c.2793T>G (p.Leu931=)	22897	CEP164	Likely benign	-1	RCV003018572;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265668	117265668		-
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)	22897	CEP164	Uncertain significance	-1	RCV003067541;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265676	117265676	NC_000011.9:g.117265676G>A	-
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu)	22897	CEP164	Uncertain significance	958659489	RCV001938652;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265687	117265687	117265687	-
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly)	22897	CEP164	Uncertain significance	374045323	RCV001297721;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265688	117265688	117265688	-
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr)	22897	CEP164	Uncertain significance	749310077	RCV002047953;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265697	117265697	117265697	-
NM_014956.5(CEP164):c.2834_2844+13dup	22897	CEP164	Uncertain significance	765251449	RCV002013428;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265703	117265704	117265703	-
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)	22897	CEP164	Pathogenic	-1	RCV003025895;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265711	117265711	NC_000011.9:g.117265711G>T	-
NM_014956.5(CEP164):c.2844+5G>C	22897	CEP164	Conflicting interpretations of pathogenicity	2136434803	RCV002034827\|RCV002049734;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117265724	117265724	117265724	-
NM_014956.5(CEP164):c.2844+8A>G	22897	CEP164	Likely benign	142545580	RCV000539669;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265727	117265727	NC_000011.9:g.117265727A>G	ClinGen:CA6295228	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.2844+13C>T	22897	CEP164	Likely benign	-1	RCV002886200;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265732	117265732	NC_000011.9:g.117265732C>T	-
NM_014956.5(CEP164):c.2844+20C>T	22897	CEP164	Likely benign	-1	RCV002829593;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265739	117265739	NC_000011.9:g.117265739C>T	-
NM_014956.5(CEP164):c.2845-15T>C	22897	CEP164	Likely benign	757233980	RCV002088435;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265824	117265824	117265824	-
NM_014956.5(CEP164):c.2845-9C>G	22897	CEP164	Likely benign	-1	RCV003073496;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265830	117265830	NC_000011.9:g.117265830C>G	-
NM_014956.5(CEP164):c.2845-6T>G	22897	CEP164	Likely benign	201515694	RCV000952665;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265833	117265833	11:g.117265833T>G	-
NM_014956.5(CEP164):c.2850G>A (p.Glu950=)	22897	CEP164	Likely benign	942030231	RCV002145306;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265844	117265844	117265844	-
NM_014956.5(CEP164):c.2853C>T (p.Thr951=)	22897	CEP164	Likely benign	140641176	RCV001435409;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265847	117265847	117265847	-
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)	22897	CEP164	Uncertain significance	773981726	RCV001998359;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265848	117265848	117265848	-
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp)	22897	CEP164	Uncertain significance	767099855	RCV001221794;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265851	117265851	11:g.117265851C>T	-
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln)	22897	CEP164	Uncertain significance	184333345	RCV001039154;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265852	117265852	11:g.117265852G>A	-
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu)	22897	CEP164	Uncertain significance	1217613639	RCV001067353;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265860	117265860	11:g.117265860A>G	-
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu)	22897	CEP164	Uncertain significance	757822725	RCV001037780;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265864	117265864	11:g.117265864A>T	-
NM_014956.5(CEP164):c.2884G>A (p.Val962Met)	22897	CEP164	Uncertain significance	750570669	RCV001324957;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265878	117265878	117265878	-
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)	22897	CEP164	Uncertain significance	-1	RCV003031066;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265878	117265879	NC_000011.9:g.117265878_117265879delinsAA	-
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup)	22897	CEP164	Uncertain significance	2045276879	RCV001338701;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265879	117265880	117265879	-
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly)	22897	CEP164	Uncertain significance	2045276386	RCV001993435;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265879	117265879	117265879	-
NM_014956.5(CEP164):c.2889G>T (p.Gln963His)	22897	CEP164	Uncertain significance	2045277340	RCV001209475;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265883	117265883	11:g.117265883G>T	-
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)	22897	CEP164	Uncertain significance	-1	RCV003055103;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265883	117265883	NC_000011.9:g.117265883G>C	-
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg)	22897	CEP164	Uncertain significance	1416554475	RCV001369246;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265900	117265900	117265900	-
NM_014956.5(CEP164):c.2913G>A (p.Glu971=)	22897	CEP164	Uncertain significance	2136439892	RCV001960482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265907	117265907	117265907	-
NM_014956.5(CEP164):c.2913+4T>G	22897	CEP164	Uncertain significance	-1	RCV003115465;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265911	117265911	NC_000011.9:g.117265911T>G	-
NM_014956.5(CEP164):c.2913+10C>T	22897	CEP164	Likely benign	1221685717	RCV001484315;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265917	117265917	11:g.117265917C>T	-
NM_014956.5(CEP164):c.2913+20C>T	22897	CEP164	Likely benign	-1	RCV002580080;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117265927	117265927	NC_000011.9:g.117265927C>T	-
NM_014956.5(CEP164):c.2914-20A>G	22897	CEP164	Likely benign	201736952	RCV002083792;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266243	117266243	117266243	-
NM_014956.5(CEP164):c.2914-13C>T	22897	CEP164	Likely benign	370773217	RCV001494937;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266250	117266250	117266250	-
NM_014956.5(CEP164):c.2914-9T>G	22897	CEP164	Likely benign	201787792	RCV001401131;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266254	117266254	117266254	-
NM_014956.5(CEP164):c.2914-6C>T	22897	CEP164	Likely benign	-1	RCV002596276;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266257	117266257	NC_000011.9:g.117266257C>T	-
NM_014956.5(CEP164):c.2914-5C>T	22897	CEP164	Likely benign	2136450157	RCV001432166;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266258	117266258	117266258	-
NM_014956.5(CEP164):c.2914-1G>C	22897	CEP164	Likely pathogenic	-1	RCV002800166;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266262	117266262	NC_000011.9:g.117266262G>C	-
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala)	22897	CEP164	Conflicting interpretations of pathogenicity	56699807	RCV000878300\|RCV002536792;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117266269	117266269	11:g.117266269A>G	-
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile)	22897	CEP164	Uncertain significance	150451678	RCV001324583\|RCV002546115;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117266270	117266270	117266270	-
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val)	22897	CEP164	Uncertain significance	778872289	RCV001932105;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266273	117266273	117266273	-
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)	22897	CEP164	Uncertain significance	-1	RCV003053968;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266273	117266273	NC_000011.9:g.117266273C>A	-
NM_014956.5(CEP164):c.2937G>A (p.Gln979=)	22897	CEP164	Likely benign	2136450553	RCV002075069;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266286	117266286	117266286	-
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs)	22897	CEP164	Pathogenic	2136450623	RCV001948653;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266290	117266291	117266289	-
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp)	22897	CEP164	Uncertain significance	112958115	RCV001316715\|RCV002543703;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117266292	117266292	117266292	-
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr)	22897	CEP164	Uncertain significance	1251181865	RCV001238909;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266296	117266296	11:g.117266296G>A	-
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser)	22897	CEP164	Benign	2305830	RCV000253896\|RCV001511536\|RCV001597015;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117266312	117266312	NC_000011.9:g.117266312C>G	ClinGen:CA6295292,UniProtKB:Q9UPV0#VAR_037512	CN169374 not specified;
NM_014956.5(CEP164):c.2965C>A (p.His989Asn)	22897	CEP164	Uncertain significance	2045329063	RCV001298745;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266314	117266314	117266314	-
NM_014956.5(CEP164):c.2970G>A (p.Leu990=)	22897	CEP164	Likely benign	-1	RCV002574482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266319	117266319		-
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala)	22897	CEP164	Uncertain significance	200571532	RCV001240532;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266326	117266326	11:g.117266326T>G	-
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)	22897	CEP164	Uncertain significance	-1	RCV002583788;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266336	117266336	NC_000011.9:g.117266336A>G	-
NM_014956.5(CEP164):c.2988G>T (p.Gln996His)	22897	CEP164	Uncertain significance	1565593444	RCV001979286;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266337	117266337	117266337	-
NM_014956.5(CEP164):c.2991C>T (p.Leu997=)	22897	CEP164	Likely benign	765549940	RCV002076043;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266340	117266340	117266340	-
NM_014956.5(CEP164):c.2991C>G (p.Leu997=)	22897	CEP164	Likely benign	-1	RCV003017648;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266340	117266340		-
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)	22897	CEP164	Pathogenic/Likely pathogenic	1323529877	RCV001280877;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266341	117266341	11:g.117266341C>T	-
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)	22897	CEP164	Uncertain significance	-1	RCV002895632;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266342	117266342	NC_000011.9:g.117266342G>C	-
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)	22897	CEP164	Pathogenic	-1	RCV003033007;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266345	117266345	NC_000011.9:g.117266347del	-
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val)	22897	CEP164	Uncertain significance	199637319	RCV000493085\|RCV000625376\|RCV001821416;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN169374	11	117266350	117266350	11:g.117266350C>G	ClinGen:CA6295299	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val)	22897	CEP164	Uncertain significance	2136452126	RCV002050658;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266354	117266354	117266354	-
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)	22897	CEP164	Uncertain significance	-1	RCV003020784;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266356	117266356	NC_000011.9:g.117266356G>C	-
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=)	22897	CEP164	Likely benign	368609037	RCV001433630;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266361	117266361	117266361	-
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys)	22897	CEP164	Likely benign	115387935	RCV000952663;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266368	117266368	11:g.117266368C>T	-
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly)	22897	CEP164	Uncertain significance	115387935	RCV001920122;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266368	117266368	117266368	-
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His)	22897	CEP164	Uncertain significance	372292887	RCV001920249;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266369	117266369	117266369	-
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)	22897	CEP164	Uncertain significance	-1	RCV003034058;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266370	117266370		-
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)	22897	CEP164	Conflicting interpretations of pathogenicity	138868323	RCV000952062\|RCV003318652;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117266381	117266381	11:g.117266381T>C	-
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln)	22897	CEP164	Uncertain significance	138868323	RCV001361914;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266381	117266381	117266381	-
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)	22897	CEP164	Pathogenic	-1	RCV002572714;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266386	117266387	NC_000011.9:g.117266388_117266389dup	-
NM_014956.5(CEP164):c.3039C>G (p.Ser1013=)	22897	CEP164	Likely benign	778620459	RCV001441567;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266388	117266388	117266388	-
NM_014956.5(CEP164):c.3042A>G (p.Gln1014=)	22897	CEP164	Likely benign	149350006	RCV001454617;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266391	117266391	117266391	-
NM_014956.5(CEP164):c.3045G>A (p.Val1015=)	22897	CEP164	Likely benign	201873800	RCV001447871;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266394	117266394	117266394	-
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)	22897	CEP164	Uncertain significance	-1	RCV002632282;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266399	117266399	NC_000011.9:g.117266399T>G	-
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter)	22897	CEP164	Pathogenic	746453731	RCV001879106\|RCV003154207;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117266404	117266404	117266404	-
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)	22897	CEP164	Uncertain significance	-1	RCV002303257;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266406	117266406	117266406	-
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr)	22897	CEP164	Uncertain significance	1316999665	RCV002002793;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266407	117266407	117266407	-
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His)	22897	CEP164	Uncertain significance	1281977880	RCV001301899;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266418	117266418	117266418	-
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)	22897	CEP164	Uncertain significance	-1	RCV003021970;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266419	117266419	NC_000011.9:g.117266419C>G	-
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu)	22897	CEP164	Uncertain significance	2045343660	RCV001208423;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266436	117266436	11:g.117266436C>G	-
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr)	22897	CEP164	Uncertain significance	2045343883	RCV001339758;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266438	117266438	117266438	-
NM_014956.5(CEP164):c.3089+5C>T	22897	CEP164	Uncertain significance	-1	RCV002851047;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266443	117266443	NC_000011.9:g.117266443C>T	-
NM_014956.5(CEP164):c.3089+6G>A	22897	CEP164	Uncertain significance	374896228	RCV001343991;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266444	117266444	117266444	-
NM_014956.5(CEP164):c.3089+11C>A	22897	CEP164	Likely benign	773782390	RCV002130152;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266449	117266449	117266449	-
NM_014956.5(CEP164):c.3089+16T>C	22897	CEP164	Likely benign	-1	RCV003067037;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266454	117266454	NC_000011.9:g.117266454T>C	-
NM_014956.5(CEP164):c.3089+19A>C	22897	CEP164	Likely benign	-1	RCV002725352;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266457	117266457	NC_000011.9:g.117266457A>C	-
NM_014956.5(CEP164):c.3090-16A>C	22897	CEP164	Benign	693147	RCV000245701\|RCV001511275\|RCV001640551;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117266754	117266754	NC_000011.9:g.117266754A>C	ClinGen:CA6295340	CN169374 not specified;
NM_014956.5(CEP164):c.3093C>T (p.Ser1031=)	22897	CEP164	Likely benign	766181500	RCV001440644;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266773	117266773	117266773	-
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)	22897	CEP164	Uncertain significance	-1	RCV002731449;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266783	117266783	NC_000011.9:g.117266783G>A	-
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val)	22897	CEP164	Uncertain significance	1264586687	RCV000554542;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266787	117266787	11:g.117266787C>T	ClinGen:CA382732821	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter)	22897	CEP164	Pathogenic	2136466034	RCV001883864;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266789	117266789	117266789	-
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)	22897	CEP164	Uncertain significance	-1	RCV002832992;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266804	117266804	NC_000011.9:g.117266804C>G	-
NM_014956.5(CEP164):c.3126G>A (p.Leu1042=)	22897	CEP164	Likely benign	-1	RCV002861420;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266806	117266806		-
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln)	22897	CEP164	Uncertain significance	752093126	RCV001238699;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266813	117266813	11:g.117266813G>C	-
NM_014956.5(CEP164):c.3144T>A (p.Val1048=)	22897	CEP164	Likely benign	886038608	RCV000251246\|RCV002518642;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266824	117266824	11:g.117266824T>A	ClinGen:CA10587107	CN169374 not specified;
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=)	22897	CEP164	Benign/Likely benign	575735586	RCV001509923;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266827	117266827	117266827	-
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys)	22897	CEP164	Uncertain significance	2045422580	RCV001298539;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266833	117266833	117266833	-
NM_014956.5(CEP164):c.3159T>G (p.Ala1053=)	22897	CEP164	Likely benign	2045422912	RCV002072686;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266839	117266839	117266839	-
NM_014956.5(CEP164):c.3162C>T (p.Ser1054=)	22897	CEP164	Likely benign	777528751	RCV002092776;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266842	117266842	117266842	-
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser)	22897	CEP164	Uncertain significance	2136466815	RCV002017445;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266843	117266843	117266843	-
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln)	22897	CEP164	Uncertain significance	748972612	RCV001345491;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266852	117266852	117266852	-
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe)	22897	CEP164	Uncertain significance	2136467124	RCV001878886;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266861	117266861	117266861	-
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=)	22897	CEP164	Likely benign	144700973	RCV001459058;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266863	117266863	117266863	-
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr)	22897	CEP164	Uncertain significance	2136467201	RCV002040533;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266864	117266864	117266864	-
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr)	22897	CEP164	Uncertain significance	148477756	RCV002034410;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266868	117266868	117266868	-
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)	22897	CEP164	Pathogenic	-1	RCV003085651;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266872	117266872	NC_000011.9:g.117266873del	-
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe)	22897	CEP164	Uncertain significance	142722515	RCV001888336;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266886	117266886	117266886	-
NM_014956.5(CEP164):c.3216+20_3216+33del	22897	CEP164	Benign/Likely benign	200103555	RCV000529850;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266902	117266915	11:g.117266902_117266915del	ClinGen:CA6295361	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3216+10G>C	22897	CEP164	Likely benign	768750499	RCV001497392;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117266906	117266906	117266906	-
NM_014956.5(CEP164):c.3217-19T>C	22897	CEP164	Likely benign	-1	RCV003061597;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267247	117267247	NC_000011.9:g.117267247T>C	-
NM_014956.5(CEP164):c.3217-18T>C	22897	CEP164	Likely benign	1474346753	RCV002184704;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267248	117267248	117267248	-
NM_014956.5(CEP164):c.3217-12A>G	22897	CEP164	Likely benign	779406287	RCV001315248;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267254	117267254	117267254	-
NM_014956.5(CEP164):c.3217-8G>A	22897	CEP164	Likely benign	374823549	RCV001445771;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267258	117267258	117267258	-
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=)	22897	CEP164	Benign/Likely benign	144421639	RCV000878169\|RCV001081490;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267274	117267274	11:g.117267274C>T	-
NM_014956.5(CEP164):c.3234G>A (p.Val1078=)	22897	CEP164	Likely benign	929056136	RCV002542189;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267283	117267283	11:g.117267283G>A	-
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del)	22897	CEP164	Uncertain significance	749738679	RCV002042802;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267283	117267285	117267282	-
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys)	22897	CEP164	Uncertain significance	2136482246	RCV001977935;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267285	117267285	117267285	-
NM_014956.5(CEP164):c.3237T>G (p.Ser1079=)	22897	CEP164	Likely benign	780381724	RCV002114219;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267286	117267286	117267286	-
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)	22897	CEP164	Uncertain significance	-1	RCV003117104;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267288	117267288	NC_000011.9:g.117267288C>G	-
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe)	22897	CEP164	Uncertain significance	201488532	RCV001884785;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267291	117267291	117267291	-
NM_014956.5(CEP164):c.3246C>T (p.Leu1082=)	22897	CEP164	Likely benign	201698235	RCV001401466;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267295	117267295	117267295	-
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn)	22897	CEP164	Uncertain significance	562234273	RCV001347091;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267303	117267303	117267303	-
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln)	22897	CEP164	Uncertain significance	911561261	RCV002036603;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267308	117267308	117267308	-
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn)	22897	CEP164	Uncertain significance	760736423	RCV001913666;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267311	117267311	117267311	-
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His)	22897	CEP164	Uncertain significance	140470210	RCV001905163;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267317	117267317	117267317	-
NM_014956.5(CEP164):c.3278+5G>A	22897	CEP164	Uncertain significance	1382315277	RCV001372955;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267332	117267332	117267332	-
NM_014956.5(CEP164):c.3278+5_3278+8del	22897	CEP164	Uncertain significance	929035130	RCV002013078;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267332	117267335	117267331	-
NM_014956.5(CEP164):c.3278+11A>G	22897	CEP164	Likely benign	761420267	RCV002163962;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267338	117267338	117267338	-
NM_014956.5(CEP164):c.3278+12T>C	22897	CEP164	Likely benign	2136483935	RCV002090167;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267339	117267339	117267339	-
NM_014956.5(CEP164):c.3278+15C>A	22897	CEP164	Likely benign	2045507329	RCV001434322;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267342	117267342	117267342	-
NM_014956.5(CEP164):c.3278+16C>G	22897	CEP164	Likely benign	900461612	RCV002129568;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267343	117267343	117267343	-
NM_014956.5(CEP164):c.3279-20C>T	22897	CEP164	Likely benign	375870273	RCV002205156;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267787	117267787	117267787	-
NM_014956.5(CEP164):c.3279-12C>T	22897	CEP164	Likely benign	749577674	RCV002161667;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267795	117267795	117267795	-
NM_014956.5(CEP164):c.3279-8_3279-3del	22897	CEP164	Likely benign	2136498231	RCV002164560;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267795	117267800	117267794	-
NM_014956.5(CEP164):c.3279-12C>A	22897	CEP164	Likely benign	-1	RCV002745517;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267795	117267795	NC_000011.9:g.117267795C>A	-
NM_014956.5(CEP164):c.3279-8T>C	22897	CEP164	Likely benign	771735947	RCV002190319;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267799	117267799	117267799	-
NM_014956.5(CEP164):c.3279-7G>T	22897	CEP164	Likely benign	-1	RCV002575638;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267800	117267800	NC_000011.9:g.117267800G>T	-
NM_014956.5(CEP164):c.3279-5T>C	22897	CEP164	Likely benign	768653923	RCV001504123;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267802	117267802	117267802	-
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=)	22897	CEP164	Uncertain significance	766038184	RCV001204622;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267807	117267807	11:g.117267807C>T	-
NM_014956.5(CEP164):c.3285C>T (p.Ser1095=)	22897	CEP164	Likely benign	-1	RCV002886186;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267813	117267813		-
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr)	22897	CEP164	Uncertain significance	764825500	RCV001071702;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267817	117267817	11:g.117267817C>T	-
NM_014956.5(CEP164):c.3297C>G (p.Val1099=)	22897	CEP164	Likely benign	-1	RCV003074848;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267825	117267825		-
NM_014956.5(CEP164):c.3303C>T (p.His1101=)	22897	CEP164	Likely benign	2136499348	RCV001443278;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267831	117267831	117267831	-
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe)	22897	CEP164	Uncertain significance	1307328675	RCV001960265;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267832	117267832	117267832	-
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val)	22897	CEP164	Uncertain significance	751866377	RCV001870096;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267842	117267842	117267842	-
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)	22897	CEP164	Uncertain significance	-1	RCV003060744;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267850	117267850	NC_000011.9:g.117267850G>T	-
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)	22897	CEP164	Conflicting interpretations of pathogenicity	61740738	RCV000950908\|RCV002546023\|RCV003151232;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	11	117267860	117267860	11:g.117267860G>A	-
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn)	22897	CEP164	Uncertain significance	1182752473	RCV001370505;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267863	117267863	117267863	-
NM_014956.5(CEP164):c.3336T>C (p.Ser1112=)	22897	CEP164	Likely benign	-1	RCV002926665;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267864	117267864		-
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)	22897	CEP164	Uncertain significance	-1	RCV002694825;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267867	117267867		-
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)	22897	CEP164	Uncertain significance	-1	RCV002582859;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267869	117267869	NC_000011.9:g.117267869A>T	-
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala)	22897	CEP164	Uncertain significance	1455570319	RCV001933805;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267881	117267881	117267881	-
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)	22897	CEP164	Uncertain significance	-1	RCV003073822;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267883	117267884	NC_000011.9:g.117267883_117267884inv	-
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg)	22897	CEP164	Benign	573455	RCV000243054\|RCV001511276\|RCV001711714;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117267884	117267884	NC_000011.9:g.117267884A>G	ClinGen:CA6295427,UniProtKB:Q9UPV0#VAR_037513	CN169374 not specified;
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)	22897	CEP164	Uncertain significance	-1	RCV003008131;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267889	117267889	NC_000011.9:g.117267889A>G	-
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys)	22897	CEP164	Benign/Likely benign	149875085	RCV000224764\|RCV001087832;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267892	117267892	11:g.117267892C>T	ClinGen:CA6295429	CN517202 not provided;
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His)	22897	CEP164	Likely benign	144910893	RCV000952661;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267893	117267893	11:g.117267893G>A	-
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro)	22897	CEP164	Uncertain significance	144910893	RCV001071033;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267893	117267893	11:g.117267893G>C	-
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr)	22897	CEP164	Uncertain significance	527615343	RCV001052011;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267899	117267899	11:g.117267899T>C	-
NM_014956.5(CEP164):c.3373C>A (p.Arg1125=)	22897	CEP164	Likely benign	372830445	RCV002220786;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267901	117267901	117267901	-
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)	22897	CEP164	Uncertain significance	-1	RCV002953531;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267901	117267901	NC_000011.9:g.117267901C>T	-
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)	22897	CEP164	Uncertain significance	-1	RCV003060683;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267907	117267907	NC_000011.9:g.117267907C>G	-
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln)	22897	CEP164	Uncertain significance	753895198	RCV001317927;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267908	117267908	117267908	-
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu)	22897	CEP164	Uncertain significance	753895198	RCV002006436;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267908	117267908	117267908	-
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu)	22897	CEP164	Uncertain significance	2136502331	RCV001935220;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267910	117267910	117267910	-
NM_014956.5(CEP164):c.3387A>G (p.Thr1129=)	22897	CEP164	Likely benign	2136502466	RCV002184526;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267915	117267915	117267915	-
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro)	22897	CEP164	Uncertain significance	1317065002	RCV001337741;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267920	117267920	117267920	-
NM_014956.5(CEP164):c.3396A>G (p.Lys1132=)	22897	CEP164	Likely benign	-1	RCV002643689;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267924	117267924		-
NM_014956.5(CEP164):c.3402C>T (p.Ala1134=)	22897	CEP164	Likely benign	779234423	RCV001399896;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267930	117267930	117267930	-
NM_014956.5(CEP164):c.3411T>C (p.His1137=)	22897	CEP164	Likely benign	2045591121	RCV002110081;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267939	117267939	117267939	-
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys)	22897	CEP164	Uncertain significance	374437787	RCV001241928;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267943	117267943	11:g.117267943C>T	-
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His)	22897	CEP164	Uncertain significance	143802594	RCV001240764;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267944	117267944	11:g.117267944G>A	-
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu)	22897	CEP164	Uncertain significance	143802594	RCV001359140;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267944	117267944	117267944	-
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)	22897	CEP164	Uncertain significance	-1	RCV002961952;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267955	117267955	NC_000011.9:g.117267955G>C	-
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly)	22897	CEP164	Uncertain significance	2136503745	RCV001909750;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267958	117267958	117267958	-
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val)	22897	CEP164	Uncertain significance	770370539	RCV001067888;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267962	117267962	11:g.117267962C>T	-
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=)	22897	CEP164	Likely benign	149964584	RCV001439434;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267963	117267963	117267963	-
NM_014956.5(CEP164):c.3435G>T (p.Ala1145=)	22897	CEP164	Likely benign	149964584	RCV002150061;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267963	117267963	117267963	-
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)	22897	CEP164	Likely pathogenic	-1	RCV002510410;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267965	117267965	NC_000011.9:g.117267965del	-
NM_014956.5(CEP164):c.3459A>G (p.Pro1153=)	22897	CEP164	Likely benign	1168571708	RCV002170911;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267987	117267987	117267987	-
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)	22897	CEP164	Uncertain significance	-1	RCV003110719;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267991	117267991	NC_000011.9:g.117267991A>G	-
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn)	22897	CEP164	Uncertain significance	1341181625	RCV001940966;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267992	117267992	117267992	-
NM_014956.5(CEP164):c.3471C>A (p.Ala1157=)	22897	CEP164	Likely benign	1045099586	RCV001450956;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267999	117267999	117267999	-
NM_014956.5(CEP164):c.3471C>T (p.Ala1157=)	22897	CEP164	Likely benign	-1	RCV003079284;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117267999	117267999		-
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr)	22897	CEP164	Uncertain significance	375136293	RCV001926650;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268010	117268010	117268010	-
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile)	22897	CEP164	Uncertain significance	757309937	RCV001044280;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268011	117268011	11:g.117268011G>A	-
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser)	22897	CEP164	Benign	138487235	RCV000959750;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268012	117268012	11:g.117268012C>A	-
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys)	22897	CEP164	Uncertain significance	138487235	RCV001205717;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268012	117268012	11:g.117268012C>T	-
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His)	22897	CEP164	Uncertain significance	758759503	RCV001203995;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268013	117268013	11:g.117268013G>A	-
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro)	22897	CEP164	Uncertain significance	747917840	RCV002004394;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268022	117268022	117268022	-
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln)	22897	CEP164	Conflicting interpretations of pathogenicity	61745877	RCV000878351\|RCV003344115;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117268024	117268024	11:g.117268024G>C	-
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)	22897	CEP164	Uncertain significance	-1	RCV002842501;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268027	117268027	NC_000011.9:g.117268027A>G	-
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn)	22897	CEP164	Uncertain significance	2136505455	RCV002026788;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268029	117268029	117268029	-
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)	22897	CEP164	Uncertain significance	-1	RCV002993521;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268029	117268029	NC_000011.9:g.117268029G>T	-
NM_014956.5(CEP164):c.3501+4A>G	22897	CEP164	Uncertain significance	1180692184	RCV001210922;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268033	117268033	11:g.117268033A>G	-
NM_014956.5(CEP164):c.3501+7A>G	22897	CEP164	Likely benign	569367999	RCV001415526;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268036	117268036	117268036	-
NM_014956.5(CEP164):c.3501+8G>A	22897	CEP164	Likely benign	568399224	RCV002204942;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117268037	117268037	117268037	-
GRCh37/hg19 11q23.3(chr11:117278620-117284002)	22897	CEP164	Likely pathogenic	-1	RCV001536128;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278620	117284002	-1	-
NM_014956.5(CEP164):c.3502-6C>T	22897	CEP164	Likely benign	-1	RCV002833029;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278635	117278635	NC_000011.9:g.117278635C>T	-
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala)	22897	CEP164	Uncertain significance	535589696	RCV001242452;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278644	117278644	11:g.117278644A>G	-
NM_014956.5(CEP164):c.3510G>A (p.Arg1170=)	22897	CEP164	Likely benign	2136879549	RCV002073555;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278649	117278649	117278649	-
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu)	22897	CEP164	Uncertain significance	746686807	RCV001034813;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278658	117278658	11:g.117278658T>A	-
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)	22897	CEP164	Uncertain significance	-1	RCV003093442;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278669	117278669	NC_000011.9:g.117278669C>T	-
NM_014956.5(CEP164):c.3531G>A (p.Ser1177=)	22897	CEP164	Likely benign	776927406	RCV002080432;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278670	117278670	117278670	-
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val)	22897	CEP164	Uncertain significance	772378117	RCV001906965;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278674	117278674	117278674	-
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp)	22897	CEP164	Uncertain significance	557730163	RCV001304042;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278677	117278677	117278677	-
NM_014956.5(CEP164):c.3538C>A (p.Arg1180=)	22897	CEP164	Likely benign	557730163	RCV002210458;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278677	117278677	117278677	-
NM_014956.5(CEP164):c.3543A>G (p.Lys1181=)	22897	CEP164	Likely benign	-1	RCV002610283;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278682	117278682		-
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp)	22897	CEP164	Uncertain significance	2136880769	RCV001979039;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278684	117278684	117278684	-
NM_014956.5(CEP164):c.3546C>G (p.Gly1182=)	22897	CEP164	Likely benign	1412204537	RCV002099056;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278685	117278685	117278685	-
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=)	22897	CEP164	Benign/Likely benign	138861857	RCV000952662;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278695	117278695	11:g.117278695C>T	-
NM_014956.5(CEP164):c.3558G>A (p.Leu1186=)	22897	CEP164	Likely benign	1295395116	RCV002120447;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278697	117278697	117278697	-
NC_000011.9:g.(?_117278705)_(117284975_?)del	22897	CEP164	Uncertain significance	-1	RCV003119463;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278705	117284975		-
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)	22897	CEP164	Uncertain significance	-1	RCV002629648;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278710	117278710	NC_000011.9:g.117278710G>A	-
NM_014956.5(CEP164):c.3586T>C (p.Leu1196=)	22897	CEP164	Likely benign	759744930	RCV001443123;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278725	117278725	117278725	-
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)	22897	CEP164	Uncertain significance	-1	RCV002937851;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278726	117278726	NC_000011.9:g.117278726T>C	-
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val)	22897	CEP164	Uncertain significance	2046909808	RCV001053822;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278744	117278744	11:g.117278744A>T	-
NM_014956.5(CEP164):c.3609+2_3609+5dup	22897	CEP164	Uncertain significance	-1	RCV002838520;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278749	117278750	NC_000011.9:g.117278750_117278753dup	-
NM_014956.5(CEP164):c.3609+3G>A	22897	CEP164	Uncertain significance	148009946	RCV001227150;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278751	117278751	11:g.117278751G>A	-
NM_014956.5(CEP164):c.3609+4C>T	22897	CEP164	Uncertain significance	-1	RCV003088131;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278752	117278752	NC_000011.9:g.117278752C>T	-
NM_014956.5(CEP164):c.3609+9C>G	22897	CEP164	Uncertain significance	-1	RCV002801879;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117278757	117278757	NC_000011.9:g.117278757C>G	-
NM_014956.5(CEP164):c.3610-13C>T	22897	CEP164	Likely benign	-1	RCV002776181;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279593	117279593	NC_000011.9:g.117279593C>T	-
NM_014956.5(CEP164):c.3610-5C>T	22897	CEP164	Likely benign	-1	RCV002999509;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279601	117279601	NC_000011.9:g.117279601C>T	-
NM_014956.5(CEP164):c.3610-4A>G	22897	CEP164	Likely benign	111915712	RCV001439470;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279602	117279602	11:g.117279602A>G	-
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)	22897	CEP164	Uncertain significance	-1	RCV002591764;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279609	117279609	NC_000011.9:g.117279609T>G	-
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe)	22897	CEP164	Uncertain significance	2047007327	RCV001209874;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279634	117279634	11:g.117279634C>T	-
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu)	22897	CEP164	Uncertain significance	1431305580	RCV001231995;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279642	117279642	11:g.117279642A>G	-
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg)	22897	CEP164	Uncertain significance	2047009414	RCV001304030;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279646	117279646	117279646	-
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser)	22897	CEP164	Uncertain significance	1565634414	RCV001296515;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279648	117279648	117279648	-
NM_014956.5(CEP164):c.3663C>T (p.Phe1221=)	22897	CEP164	Likely benign	150819563	RCV002147008;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279659	117279659	117279659	-
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)	22897	CEP164	Uncertain significance	-1	RCV002623995\|RCV003227086;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117279660	117279660	NC_000011.9:g.117279660G>A	-
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr)	22897	CEP164	Uncertain significance	1190524819	RCV001212708;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279673	117279673	11:g.117279673T>C	-
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly)	22897	CEP164	Uncertain significance	765899402	RCV001342222;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279676	117279676	117279676	-
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=)	22897	CEP164	Likely benign	371592315	RCV001480468;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279677	117279677	117279677	-
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)	22897	CEP164	Pathogenic	-1	RCV002914731;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279679	117279680	NC_000011.9:g.117279681dup	-
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn)	22897	CEP164	Uncertain significance	950631722	RCV001234741;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279688	117279688	11:g.117279688G>A	-
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln)	22897	CEP164	Uncertain significance	1179932970	RCV001305087;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279699	117279699	117279699	-
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys)	22897	CEP164	Uncertain significance	375184395	RCV001049495;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279703	117279703	11:g.117279703C>G	-
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs)	22897	CEP164	Pathogenic	2047013877	RCV001939502;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279704	117279705	117279703	-
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=)	22897	CEP164	Likely benign	1457505922	RCV002137664;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279704	117279704	117279704	-
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)	22897	CEP164	Uncertain significance	-1	RCV003074941;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279707	117279707	NC_000011.9:g.117279707T>A	-
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu)	22897	CEP164	Benign/Likely benign	61995733	RCV000246204\|RCV000544753\|RCV002285296;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117279712	117279712	NC_000011.9:g.117279712C>T	ClinGen:CA6295539	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=)	22897	CEP164	Likely benign	149567170	RCV000559284;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279713	117279713	11:g.117279713G>A	ClinGen:CA6295540	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser)	22897	CEP164	Uncertain significance	745898523	RCV001205014;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279714	117279714	11:g.117279714C>T	-
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His)	22897	CEP164	Uncertain significance	775665636	RCV001884540;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279721	117279721	117279721	-
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys)	22897	CEP164	Uncertain significance	2047016520	RCV001201637;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279723	117279723	11:g.117279723G>A	-
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)	22897	CEP164	Pathogenic	-1	RCV002756788;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279728	117279728	NC_000011.9:g.117279728G>A	-
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp)	22897	CEP164	Uncertain significance	369446103	RCV001327111;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279732	117279732	117279732	-
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln)	22897	CEP164	Uncertain significance	147208889	RCV001984684;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279733	117279733	117279733	-
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)	22897	CEP164	Pathogenic/Likely pathogenic	140611214	RCV001069563\|RCV002067727;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117279735	117279735	11:g.117279735C>T	-
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His)	22897	CEP164	Uncertain significance	963921685	RCV001040311;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279737	117279737	11:g.117279737G>T	-
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)	22897	CEP164	Uncertain significance	-1	RCV002949182;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279741	117279741	NC_000011.9:g.117279741A>G	-
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser)	22897	CEP164	Uncertain significance	1458226426	RCV001299167;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279743	117279743	117279743	-
NM_014956.5(CEP164):c.3748+2T>C	22897	CEP164	Likely pathogenic	-1	RCV003052846;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279746	117279746	NC_000011.9:g.117279746T>C	-
NM_014956.5(CEP164):c.3748+7G>A	22897	CEP164	Likely benign	767096820	RCV001479312;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279751	117279751	117279751	-
NM_014956.5(CEP164):c.3748+7G>C	22897	CEP164	Likely benign	767096820	RCV002130739;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279751	117279751	117279751	-
NM_014956.5(CEP164):c.3748+11G>A	22897	CEP164	Likely benign	-1	RCV002580081;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279755	117279755	NC_000011.9:g.117279755G>A	-
NM_014956.5(CEP164):c.3748+17C>A	22897	CEP164	Likely benign	373984666	RCV002207585;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279761	117279761	117279761	-
NM_014956.5(CEP164):c.3748+17C>T	22897	CEP164	Likely benign	373984666	RCV002213482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117279761	117279761	117279761	-
NM_014956.5(CEP164):c.3749-15C>T	22897	CEP164	Likely benign	370837032	RCV002154199;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280319	117280319	117280319	-
NM_014956.5(CEP164):c.3749-8del	22897	CEP164	Benign	2047095365	RCV002184805;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280323	117280323	117280322	-
NM_014956.5(CEP164):c.3749-5_3761dup	22897	CEP164	Uncertain significance	2136932910	RCV001361339;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280328	117280329	117280328	-
NM_014956.5(CEP164):c.3749-4T>C	22897	CEP164	Likely benign	1198441378	RCV001405272;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280330	117280330	117280330	-
NM_014956.5(CEP164):c.3749-2A>G	22897	CEP164	Likely pathogenic	1482717760	RCV001319267;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280332	117280332	117280332	-
NM_014956.5(CEP164):c.3750C>T (p.Ile1250=)	22897	CEP164	Likely benign	-1	RCV002725257;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280335	117280335		-
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn)	22897	CEP164	Uncertain significance	1270766012	RCV001346581\|RCV002547454;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280336	117280336	117280336	-
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)	22897	CEP164	Uncertain significance	-1	RCV003013980;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280336	117280336	NC_000011.9:g.117280336G>T	-
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile)	22897	CEP164	Uncertain significance	147414766	RCV001217243;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280349	117280349	11:g.117280349G>T	-
NM_014956.5(CEP164):c.3768C>T (p.Leu1256=)	22897	CEP164	Likely benign	779372158	RCV001429855;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280353	117280353	117280353	-
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del)	22897	CEP164	Uncertain significance	752854208	RCV001373317;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280355	117280357	117280354	-
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)	22897	CEP164	Uncertain significance	-1	RCV002805262;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280355	117280355	NC_000011.9:g.117280355C>T	-
NM_014956.5(CEP164):c.3771C>T (p.Thr1257=)	22897	CEP164	Likely benign	-1	RCV003072283;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280356	117280356		-
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe)	22897	CEP164	Benign	148424362	RCV000945766;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280358	117280358	11:g.117280358C>T	-
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys)	22897	CEP164	Uncertain significance	780550729	RCV001215198;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280360	117280360	11:g.117280360C>T	-
NM_014956.5(CEP164):c.3786C>T (p.His1262=)	22897	CEP164	Likely benign	373372717	RCV000878586;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280371	117280371	11:g.117280371C>T	-
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg)	22897	CEP164	Uncertain significance	748443825	RCV002019288;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280372	117280372	117280372	-
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)	22897	CEP164	Uncertain significance	-1	RCV003108843;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280372	117280372	NC_000011.9:g.117280372G>A	-
NM_014956.5(CEP164):c.3789G>A (p.Gly1263=)	22897	CEP164	Likely benign	-1	RCV003090296;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280374	117280374		-
NM_014956.5(CEP164):c.3798C>T (p.His1266=)	22897	CEP164	Likely benign	-1	RCV002581578;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280383	117280383		-
NM_014956.5(CEP164):c.3801C>T (p.Ser1267=)	22897	CEP164	Likely benign	2136934357	RCV001495551;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280386	117280386	117280386	-
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp)	22897	CEP164	Uncertain significance	142578192	RCV001876677;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280390	117280390	117280390	-
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln)	22897	CEP164	Likely benign	150963269	RCV000533183;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280391	117280391	NC_000011.9:g.117280391G>A	ClinGen:CA6295589	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)	22897	CEP164	Uncertain significance	-1	RCV002298987;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280394	117280394	117280394	-
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe)	22897	CEP164	Uncertain significance	2047109121	RCV001990364;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280426	117280426	117280426	-
NM_014956.5(CEP164):c.3843C>T (p.Ile1281=)	22897	CEP164	Likely benign	2136935341	RCV002199685;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280428	117280428	117280428	-
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu)	22897	CEP164	Uncertain significance	758693012	RCV001044561\|RCV002552558;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280451	117280451	11:g.117280451C>T	-
NM_014956.5(CEP164):c.3867G>A (p.Ser1289=)	22897	CEP164	Likely benign	752083526	RCV001394885;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280452	117280452	117280452	-
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu)	22897	CEP164	Uncertain significance	377394847	RCV001762787\|RCV001882816;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280454	117280454	117280454	-
NM_014956.5(CEP164):c.3870G>A (p.Pro1290=)	22897	CEP164	Likely benign	-1	RCV002716774;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280455	117280455		-
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)	22897	CEP164	Uncertain significance	-1	RCV002944256;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280457	117280457	NC_000011.9:g.117280457C>T	-
NM_014956.5(CEP164):c.3873G>A (p.Pro1291=)	22897	CEP164	Likely benign	777863291	RCV001466654;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280458	117280458	117280458	-
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)	22897	CEP164	Uncertain significance	-1	RCV003067963;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280460	117280460	NC_000011.9:g.117280460C>T	-
NM_014956.5(CEP164):c.3876G>A (p.Pro1292=)	22897	CEP164	Likely benign	1319957926	RCV001457577;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280461	117280461	117280461	-
NM_014956.5(CEP164):c.3882C>T (p.Leu1294=)	22897	CEP164	Likely benign	768274034	RCV001445520;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280467	117280467	117280467	-
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr)	22897	CEP164	Uncertain significance	370793843	RCV002003467;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280468	117280468	117280468	-
NM_014956.5(CEP164):c.3888C>T (p.Ser1296=)	22897	CEP164	Likely benign	2047118133	RCV001952729;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280473	117280473	117280473	-
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)	22897	CEP164	Uncertain significance	-1	RCV002994224;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280484	117280484	NC_000011.9:g.117280484A>G	-
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)	22897	CEP164	Uncertain significance	201430651	RCV001229800\|RCV002563731;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280489	117280489	11:g.117280489C>T	-
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp)	22897	CEP164	Uncertain significance	139444171	RCV001317087\|RCV002543714;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280495	117280495	117280495	-
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)	22897	CEP164	Uncertain significance	-1	RCV002735882;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280496	117280496	NC_000011.9:g.117280496G>A	-
NM_014956.5(CEP164):c.3912G>A (p.Arg1304=)	22897	CEP164	Likely benign	146634951	RCV001479586;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280497	117280497	117280497	-
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3])	22897	CEP164	Uncertain significance	1555159397	RCV001955249;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280508	117280509	117280508	-
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=)	22897	CEP164	Benign	115051850	RCV000250933\|RCV000543808\|RCV001651203;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117280512	117280512	NC_000011.9:g.117280512C>T	ClinGen:CA6295620	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu)	22897	CEP164	Uncertain significance	145100782	RCV001309678;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280514	117280514	117280514	-
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro)	22897	CEP164	Benign	756182128	RCV000877771;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280516	117280516	11:g.117280516A>C	-
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser)	22897	CEP164	Benign	61743854	RCV000241919\|RCV000558627\|RCV001610689;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:CN517202	11	117280517	117280517	11:g.117280517C>G	ClinGen:CA6295623	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro)	22897	CEP164	Benign	758240656	RCV000877772;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280522	117280522	11:g.117280522A>C	-
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys)	22897	CEP164	Uncertain significance	1171979946	RCV001044751;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280529	117280529	11:g.117280529A>G	-
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr)	22897	CEP164	Uncertain significance	769207410	RCV001900865;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280540	117280540	117280540	-
NM_014956.5(CEP164):c.3975A>G (p.Ser1325=)	22897	CEP164	Likely benign	-1	RCV003110396;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280560	117280560		-
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met)	22897	CEP164	Uncertain significance	774641136	RCV001933072;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280574	117280574	117280574	-
NM_014956.5(CEP164):c.3990G>A (p.Thr1330=)	22897	CEP164	Likely benign	-1	RCV002619951;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280575	117280575		-
NM_014956.5(CEP164):c.3993C>G (p.Ser1331=)	22897	CEP164	Likely benign	768029564	RCV002122571;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280578	117280578	117280578	-
NM_014956.5(CEP164):c.3996C>T (p.Thr1332=)	22897	CEP164	Likely benign	199648719	RCV002172959;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280581	117280581	117280581	-
NM_014956.5(CEP164):c.3999A>G (p.Gln1333=)	22897	CEP164	Benign	201718007	RCV001516590;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280584	117280584	117280584	-
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)	22897	CEP164	Pathogenic	-1	RCV002623216;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280586	117280586	NC_000011.9:g.117280586G>A	-
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs)	22897	CEP164	Uncertain significance	2136940605	RCV001976113;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280594	117280595	117280594	-
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro)	22897	CEP164	Uncertain significance	2136940823	RCV002035919;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280604	117280604	117280604	-
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg)	22897	CEP164	Uncertain significance	781132728	RCV002045034\|RCV002642146;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280606	117280606	117280606	-
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)	22897	CEP164	Uncertain significance	-1	RCV002740954;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280607	117280607	NC_000011.9:g.117280607G>A	-
NM_014956.5(CEP164):c.4023G>A (p.Gly1341=)	22897	CEP164	Likely benign	748085058	RCV001490692;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280608	117280608	117280608	-
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser)	22897	CEP164	Uncertain significance	769315243	RCV001986829;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280609	117280609	117280609	-
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu)	22897	CEP164	Uncertain significance	531161184	RCV001052762;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280610	117280610	11:g.117280610C>T	-
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly)	22897	CEP164	Uncertain significance	748810265	RCV001978436\|RCV002592622;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280612	117280612	117280612	-
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro)	22897	CEP164	Uncertain significance	774024619	RCV001890704;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280621	117280621	117280621	-
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys)	22897	CEP164	Uncertain significance	2136941463	RCV002009474;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280622	117280622	117280622	-
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)	22897	CEP164	Uncertain significance	-1	RCV003032774;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280622	117280622	NC_000011.9:g.117280622C>T	-
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)	22897	CEP164	Uncertain significance	-1	RCV002917874;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280637	117280637	NC_000011.9:g.117280637C>T	-
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=)	22897	CEP164	Benign	373842310	RCV000536790;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280638	117280638	11:g.117280638G>A	ClinGen:CA6295655	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.4059C>T (p.Asp1353=)	22897	CEP164	Likely benign	-1	RCV003066728;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280644	117280644		-
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)	22897	CEP164	Uncertain significance	200520898	RCV000690597\|RCV001328050\|RCV002544882;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655\|MeSH:D030342,MedGen:C0950123	11	117280645	117280645	11:g.117280645G>A	-	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)	22897	CEP164	Uncertain significance	-1	RCV002624163;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280648	117280648	NC_000011.9:g.117280648T>C	-
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys)	22897	CEP164	Uncertain significance	753906680	RCV001304171;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280666	117280666	117280666	-
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro)	22897	CEP164	Uncertain significance	148987415	RCV001307666;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280667	117280667	117280667	-
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)	22897	CEP164	Uncertain significance	-1	RCV002904623\|RCV002904624;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280667	117280667	NC_000011.9:g.117280667G>A	-
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu)	22897	CEP164	Uncertain significance	377401620	RCV001071191\|RCV002554620;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117280669	117280669	11:g.117280669A>G	-
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg)	22897	CEP164	Uncertain significance	1338246093	RCV001909871;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280670	117280670	117280670	-
NM_014956.5(CEP164):c.4086G>A (p.Lys1362=)	22897	CEP164	Likely benign	200916484	RCV001494136;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280671	117280671	117280671	-
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr)	22897	CEP164	Uncertain significance	143693029	RCV001305053;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280676	117280676	117280676	-
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala)	22897	CEP164	Uncertain significance	1360828180	RCV001231501;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280681	117280681	11:g.117280681T>G	-
NM_014956.5(CEP164):c.4096+1G>C	22897	CEP164	Likely pathogenic	-1	RCV002700573;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280682	117280682	NC_000011.9:g.117280682G>C	-
NM_014956.5(CEP164):c.4096+15G>A	22897	CEP164	Likely benign	200690593	RCV001890324;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280696	117280696	117280696	-
NM_014956.5(CEP164):c.4096+17G>A	22897	CEP164	Likely benign	-1	RCV002680944;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280698	117280698	NC_000011.9:g.117280698G>A	-
NM_014956.5(CEP164):c.4096+18C>T	22897	CEP164	Likely benign	533863973	RCV002206938;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280699	117280699	117280699	-
NM_014956.5(CEP164):c.4096+19G>A	22897	CEP164	Benign	-1	RCV002871216;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117280700	117280700	NC_000011.9:g.117280700G>A	-
NM_014956.5(CEP164):c.4097-18G>C	22897	CEP164	Likely benign	2136968340	RCV002106758;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281526	117281526	117281526	-
NM_014956.5(CEP164):c.4097-13C>T	22897	CEP164	Likely benign	-1	RCV002695951;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281531	117281531	NC_000011.9:g.117281531C>T	-
NM_014956.5(CEP164):c.4097-9C>T	22897	CEP164	Likely benign	1362686273	RCV001435041;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281535	117281535	117281535	-
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)	22897	CEP164	Uncertain significance	-1	RCV002851783;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281546	117281546	NC_000011.9:g.117281546G>A	-
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)	22897	CEP164	Uncertain significance	-1	RCV003024895;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281547	117281547	NC_000011.9:g.117281547G>T	-
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr)	22897	CEP164	Uncertain significance	180911439	RCV001982140;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281550	117281550	117281550	-
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=)	22897	CEP164	Likely benign	371631049	RCV002091445;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281551	117281551	117281551	-
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu)	22897	CEP164	Conflicting interpretations of pathogenicity	148116542	RCV001939846\|RCV003401871;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117281553	117281553	117281553	-
NM_014956.5(CEP164):c.4107G>A (p.Pro1369=)	22897	CEP164	Likely benign	774656364	RCV001398861;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281554	117281554	117281554	-
NM_014956.5(CEP164):c.4113C>T (p.Leu1371=)	22897	CEP164	Likely benign	998316543	RCV001490800;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281560	117281560	117281560	-
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=)	22897	CEP164	Benign	73016324	RCV000246707\|RCV000551697\|RCV001683074;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117281566	117281566	NC_000011.9:g.117281566C>T	ClinGen:CA6295712	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys)	22897	CEP164	Uncertain significance	73016324	RCV001362060;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281566	117281566	117281566	-
NM_014956.5(CEP164):c.4122C>T (p.Ser1374=)	22897	CEP164	Likely benign	-1	RCV002621856;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281569	117281569		-
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala)	22897	CEP164	Uncertain significance	757246851	RCV001366054\|RCV002547844;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MeSH:D030342,MedGen:C0950123	11	117281570	117281570	117281570	-
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)	22897	CEP164	Uncertain significance	-1	RCV002856586;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281576	117281576	NC_000011.9:g.117281576C>G	-
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu)	22897	CEP164	Uncertain significance	146456836	RCV001363763;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281577	117281577	117281577	-
NM_014956.5(CEP164):c.4131G>A (p.Pro1377=)	22897	CEP164	Likely benign	141080271	RCV001500068;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281578	117281578	117281578	-
NM_014956.5(CEP164):c.4131G>T (p.Pro1377=)	22897	CEP164	Likely benign	141080271	RCV002137289;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281578	117281578	117281578	-
NM_014956.5(CEP164):c.4137G>A (p.Glu1379=)	22897	CEP164	Likely benign	2136970360	RCV001436591;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281584	117281584	117281584	-
NM_014956.5(CEP164):c.4140C>T (p.Ser1380=)	22897	CEP164	Likely benign	746720978	RCV001055121;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281587	117281587	11:g.117281587C>T	-
NM_014956.5(CEP164):c.4144C>T (p.Leu1382=)	22897	CEP164	Likely benign	142927104	RCV001201782;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281591	117281591	11:g.117281591C>T	-
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala)	22897	CEP164	Uncertain significance	913817059	RCV001323133;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281595	117281595	117281595	-
NM_014956.5(CEP164):c.4152C>T (p.Tyr1384=)	22897	CEP164	Likely benign	-1	RCV003086788;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281599	117281599		-
NM_014956.5(CEP164):c.4163+3_4163+6del	22897	CEP164	Uncertain significance	2047273023	RCV001322618;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281613	117281616	117281612	-
NM_014956.5(CEP164):c.4163+6C>T	22897	CEP164	Uncertain significance	576293282	RCV001065050;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281616	117281616	11:g.117281616C>T	-
NM_014956.5(CEP164):c.4163+13G>C	22897	CEP164	Likely benign	981960517	RCV002088117;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281623	117281623	117281623	-
NM_014956.5(CEP164):c.4163+14G>A	22897	CEP164	Likely benign	-1	RCV002574436;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281624	117281624	NC_000011.9:g.117281624G>A	-
NM_014956.5(CEP164):c.4163+16G>T	22897	CEP164	Likely benign	2136971795	RCV002078979;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117281626	117281626	117281626	-
NM_014956.5(CEP164):c.4164-17C>T	22897	CEP164	Likely benign	-1	RCV002899504;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282494	117282494	NC_000011.9:g.117282494C>T	-
NM_014956.5(CEP164):c.4164-12C>T	22897	CEP164	Likely benign	1003217826	RCV002143677;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282499	117282499	117282499	-
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg)	22897	CEP164	Uncertain significance	1274336690	RCV001325528;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282519	117282519	117282519	-
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp)	22897	CEP164	Uncertain significance	769676851	RCV002001445;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282521	117282521	117282521	-
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln)	22897	CEP164	Uncertain significance	772989312	RCV001064978;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282522	117282522	11:g.117282522G>A	-
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro)	22897	CEP164	Uncertain significance	772989312	RCV001972203;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282522	117282522	117282522	-
NM_014956.5(CEP164):c.4180C>T (p.Leu1394=)	22897	CEP164	Likely benign	895081745	RCV001466057;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282527	117282527	117282527	-
NM_014956.5(CEP164):c.4203C>T (p.Val1401=)	22897	CEP164	Likely benign	-1	RCV002903482;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282550	117282550		-
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)	22897	CEP164	Uncertain significance	-1	RCV002939017;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282556	117282556	NC_000011.9:g.117282556G>C	-
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val)	22897	CEP164	Uncertain significance	191488031	RCV001042324;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282558	117282558	11:g.117282558C>T	-
NM_014956.5(CEP164):c.4212G>C (p.Ala1404=)	22897	CEP164	Likely benign	369998799	RCV001474623;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282559	117282559	117282559	-
NM_014956.5(CEP164):c.4224C>T (p.Thr1408=)	22897	CEP164	Likely benign	1423587348	RCV002177982;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282571	117282571	117282571	-
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)	22897	CEP164	Conflicting interpretations of pathogenicity	147398904	RCV000689495\|RCV000723949\|RCV001074449\|RCV002248506;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:000	11	117282575	117282575	11:g.117282575C>T	ClinGen:CA6295761	C3541853 614845 Nephronophthisis 15;
NM_014956.5(CEP164):c.4233C>A (p.Gly1411=)	22897	CEP164	Likely benign	779295738	RCV002207960;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282580	117282580	117282580	-
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)	22897	CEP164	Uncertain significance	-1	RCV003023456;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282584	117282585	NC_000011.9:g.117282584_117282585delinsTA	-
NM_014956.5(CEP164):c.4248C>T (p.Asn1416=)	22897	CEP164	Likely benign	1367798627	RCV002182851;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282595	117282595	117282595	-
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp)	22897	CEP164	Uncertain significance	745904143	RCV002012694;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282596	117282596	117282596	-
NM_014956.5(CEP164):c.4249C>A (p.Arg1417=)	22897	CEP164	Likely benign	745904143	RCV002182941;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282596	117282596	117282596	-
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln)	22897	CEP164	Uncertain significance	560527787	RCV001303297;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282597	117282597	117282597	-
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro)	22897	CEP164	Uncertain significance	560527787	RCV001348943;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282597	117282597	117282597	-
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly)	22897	CEP164	Uncertain significance	2137001261	RCV001913367\|RCV002307789;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117282599	117282599	117282599	-
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs)	22897	CEP164	Uncertain significance	2047398079	RCV001962579;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282601	117282602	117282601	-
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)	22897	CEP164	Uncertain significance	-1	RCV002715646;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282604	117282604	NC_000011.9:g.117282604G>T	-
NM_014956.5(CEP164):c.4260G>T (p.Leu1420=)	22897	CEP164	Likely benign	-1	RCV002926611;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282607	117282607		-
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)	22897	CEP164	Uncertain significance	-1	RCV002629951;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282608	117282609	NC_000011.9:g.117282611_117282612insTGGTAAC	-
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His)	22897	CEP164	Likely benign	74653460	RCV000917544\|RCV001700506;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156\|MedGen:C3661900	11	117282612	117282612	11:g.117282612G>A	-
NM_014956.5(CEP164):c.4284G>A (p.Arg1428=)	22897	CEP164	Likely benign	774452782	RCV002181591;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282631	117282631	117282631	-
NM_014956.5(CEP164):c.4286+1G>T	22897	CEP164	Pathogenic	2047400808	RCV001280878;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282634	117282634	11:g.117282634G>T	-
NM_014956.5(CEP164):c.4287-11C>T	22897	CEP164	Likely benign	199682751	RCV002121102;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282777	117282777	117282777	-
NM_014956.5(CEP164):c.4287-6G>A	22897	CEP164	Uncertain significance	2137006602	RCV001976566;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282782	117282782	117282782	-
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)	22897	CEP164	Uncertain significance	-1	RCV002918564;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282789	117282789	NC_000011.9:g.117282789C>T	-
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)	22897	CEP164	Conflicting interpretations of pathogenicity	756288878	RCV001535914;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282790	117282791	117282789	-
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=)	22897	CEP164	Benign	522885	RCV000251466\|RCV001511277;	N	MedGen:CN169374\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282800	117282800	NC_000011.9:g.117282800G>T	ClinGen:CA6295797	CN169374 not specified;
NM_014956.5(CEP164):c.4299G>C (p.Ser1433=)	22897	CEP164	Likely benign	-1	RCV003074869;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282800	117282800		-
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)	22897	CEP164	Uncertain significance	-1	RCV002296797;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282804	117282804	117282804	-
NM_014956.5(CEP164):c.4308C>G (p.Pro1436=)	22897	CEP164	Likely benign	-1	RCV002588968;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282809	117282809		-
NM_014956.5(CEP164):c.4323T>C (p.Thr1441=)	22897	CEP164	Likely benign	992995160	RCV001445144;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282824	117282824	117282824	-
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)	22897	CEP164	Uncertain significance	143919649	RCV001055918;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282831	117282831	11:g.117282831C>G	-
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)	22897	CEP164	Uncertain significance	-1	RCV002918461;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282840	117282840	NC_000011.9:g.117282840C>G	-
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg)	22897	CEP164	Uncertain significance	370039438	RCV001043953;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282856	117282856	11:g.117282856A>G	-
NM_014956.5(CEP164):c.4356C>T (p.His1452=)	22897	CEP164	Likely benign	-1	RCV002795066;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282857	117282857		-
NM_014956.5(CEP164):c.4362A>G (p.Arg1454=)	22897	CEP164	Likely benign	-1	RCV003047785;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282863	117282863		-
NM_014956.5(CEP164):c.4371G>A (p.Val1457=)	22897	CEP164	Likely benign	781453124	RCV002122606;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282872	117282872	117282872	-
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)	22897	CEP164	Uncertain significance	-1	RCV002755827;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282874	117282874	NC_000011.9:g.117282874A>C	-
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys)	22897	CEP164	Uncertain significance	148650653	RCV001948738;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282876	117282876	117282876	-
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His)	22897	CEP164	Uncertain significance	2137008848	RCV002012376;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282877	117282877	117282877	-
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg)	22897	CEP164	Pathogenic	1565649749	RCV000030833;	N	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117282882	117282882	NC_000011.9:g.117282882T>C	OMIM:614848.0001	C3541853 614845 Nephronophthisis 15;
NC_000011.9:g.(?_117261473)_(117342771_?)dup	-1	CEP164;DSCAML1	Uncertain significance	-1	RCV001922972\|RCV001943077;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	117261473	117342771	-1	-
NC_000011.9:g.(?_116660844)_(117870356_?)del	-1	covers 19 genes, none of which curated to show dos	Uncertain significance	-1	RCV003109683\|RCV003119459;	N	MedGen:C3661900\|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845, Orphanet:3156	11	116660844	117870356		-

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