NPHP1 (nephrocystin 1) - Rat Genome Database
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Gene: NPHP1 (nephrocystin 1) Homo sapiens
Analyze
Symbol: NPHP1
Name: nephrocystin 1
RGD ID: 1317734
HGNC Page HGNC
Description: Involved in positive regulation of bicellular tight junction assembly. Localizes to cell-cell junction and motile cilium. Implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ97602; JBTS4; juvenile nephronophthisis 1 protein; nephrocystin-1; nephronophthisis 1 (juvenile); NPH1; SLSN1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,122,311 - 110,205,066 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,123,348 - 110,205,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,880,913 - 110,962,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,237,177 - 110,319,883 (-)NCBINCBI36hg18NCBI36
Build 342110,292,999 - 110,319,969NCBI
Celera2104,844,788 - 104,926,515 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2104,021,273 - 104,102,972 (-)NCBIHuRef
CHM1_12110,885,220 - 110,966,946 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biparietal narrowing  (IAGP)
Cataract  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Cryptorchidism  (IAGP)
Delayed gross motor development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elongated superior cerebellar peduncle  (IAGP)
Encephalocele  (IAGP)
Feeding difficulties  (IAGP)
Finger syndactyly  (IAGP)
Gait disturbance  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Heterogeneous  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hypertension  (IAGP)
Hypogonadism  (IAGP)
Hypometric saccades  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hyposthenuria  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Long face  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Molar tooth sign on MRI  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Muscular hypotonia  (IAGP)
Nephronophthisis  (IAGP)
Nephropathy  (IAGP)
Nephrotic syndrome  (IAGP)
Neurological speech impairment  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oculomotor apraxia  (IAGP)
Pigmentary retinopathy  (IAGP)
Polydipsia  (IAGP)
Polymicrogyria  (IAGP)
Polyuria  (IAGP)
Postaxial hand polydactyly  (IAGP)
Premature ovarian insufficiency  (IAGP)
Progressive visual loss  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Renal corticomedullary cysts  (IAGP)
Renal insufficiency  (IAGP)
Renal tubular atrophy  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Thickened superior cerebellar peduncle  (IAGP)
Tremor  (IAGP)
Tubular basement membrane disintegration  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
References

Additional References at PubMed
PMID:7806215   PMID:8125298   PMID:8852662   PMID:9326933   PMID:9361039   PMID:9587065   PMID:9856524   PMID:10665934   PMID:10712196   PMID:10739664   PMID:10839884   PMID:11493697  
PMID:12006559   PMID:12205563   PMID:12244321   PMID:12477932   PMID:12872122   PMID:12872123   PMID:15138899   PMID:15489334   PMID:15661758   PMID:16308564   PMID:16374509   PMID:16713569  
PMID:16724659   PMID:16782989   PMID:16885411   PMID:16900087   PMID:16964398   PMID:17207965   PMID:17513324   PMID:18054307   PMID:18477472   PMID:18512082   PMID:18633336   PMID:19718658  
PMID:19755384   PMID:20301500   PMID:20301743   PMID:20424473   PMID:20856870   PMID:20981449   PMID:21068128   PMID:21309750   PMID:21357692   PMID:21565611   PMID:21633164   PMID:21873635  
PMID:22523277   PMID:22701722   PMID:22743096   PMID:22745667   PMID:22863007   PMID:23532844   PMID:23683649   PMID:25401970   PMID:25825872   PMID:25851290   PMID:26037636   PMID:26198798  
PMID:26638075   PMID:26641089   PMID:27173435   PMID:27316287   PMID:27336129   PMID:27503909   PMID:28514442   PMID:29654215   PMID:29786190   PMID:29949740   PMID:31096956   PMID:32306954  


Genomics

Comparative Map Data
NPHP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,122,311 - 110,205,066 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,123,348 - 110,205,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,880,913 - 110,962,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,237,177 - 110,319,883 (-)NCBINCBI36hg18NCBI36
Build 342110,292,999 - 110,319,969NCBI
Celera2104,844,788 - 104,926,515 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2104,021,273 - 104,102,972 (-)NCBIHuRef
CHM1_12110,885,220 - 110,966,946 (-)NCBICHM1_1
Nphp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,582,652 - 127,630,833 (-)NCBIGRCm39mm39
GRCm382127,740,732 - 127,788,913 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,740,732 - 127,788,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv372127,566,468 - 127,614,590 (-)NCBIGRCm37mm9NCBIm37
MGSCv362127,432,171 - 127,480,295 (-)NCBImm8
Celera2128,973,360 - 129,021,982 (-)NCBICelera
Cytogenetic Map2F1NCBI
Nphp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.03120,316,048 - 120,370,089 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3120,316,047 - 120,373,500 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03126,960,471 - 127,017,986 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43115,263,821 - 115,322,901 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13115,169,392 - 115,225,028 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBICelera
Cytogenetic Map3q36NCBI
Nphp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554703,260,557 - 3,307,797 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554703,261,455 - 3,305,989 (+)NCBIChiLan1.0ChiLan1.0
NPHP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A111,625,267 - 111,706,205 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,625,267 - 111,706,205 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A91,520,612 - 91,602,187 (+)NCBIMhudiblu_PPA_v0panPan3
NPHP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1735,076,636 - 35,136,425 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11735,076,527 - 35,136,674 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
NPHP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl346,281,570 - 46,377,273 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1346,316,864 - 46,378,279 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2347,952,796 - 48,013,146 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPHP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,520,573 - 13,589,980 (-)NCBI
ChlSab1.1 Ensembl1413,520,541 - 13,589,146 (-)Ensembl
Nphp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247491,725,515 - 1,779,787 (+)NCBI

Position Markers
WI-22078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372110,942,460 - 110,942,713UniSTSGRCh37
GRCh3710104,240,665 - 104,241,875UniSTSGRCh37
Build 362110,299,749 - 110,300,002RGDNCBI36
Celera1097,981,567 - 97,982,777UniSTS
Celera2104,864,714 - 104,864,967RGD
Cytogenetic Map2q13UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,874,511 - 97,875,721UniSTS
HuRef2104,082,792 - 104,083,045UniSTS
GeneMap99-GB4 RH Map10488.42UniSTS
Whitehead-RH Map10578.7UniSTS
NCBI RH Map101122.0UniSTS
RH47050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,240,142 - 104,240,269UniSTSGRCh37
GRCh372110,943,112 - 110,943,256UniSTSGRCh37
Build 362110,300,401 - 110,300,545RGDNCBI36
Celera2104,864,171 - 104,864,315RGD
Celera1097,981,044 - 97,981,171UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q13UniSTS
HuRef2104,083,444 - 104,083,588UniSTS
HuRef1097,873,988 - 97,874,115UniSTS
GDB:451658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,239,365 - 104,239,477UniSTSGRCh37
GRCh372110,943,928 - 110,944,040UniSTSGRCh37
Build 362110,301,217 - 110,301,329RGDNCBI36
Celera2104,863,387 - 104,863,499RGD
Celera1097,980,267 - 97,980,379UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef2104,084,260 - 104,084,372UniSTS
HuRef1097,873,211 - 97,873,323UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1809
Count of miRNA genes:792
Interacting mature miRNAs:905
Transcripts:ENST00000316534, ENST00000355301, ENST00000393272, ENST00000417665, ENST00000418527, ENST00000422492, ENST00000445609, ENST00000449600, ENST00000461707, ENST00000493051, ENST00000496524
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2 3 497 1 161 161 283 6 405 299 3 159 1
Low 2326 2173 856 255 790 98 4184 1978 3395 382 1041 1302 171 1 1203 2622 2 2
Below cutoff 110 736 369 364 1065 363 12 57 56 31 14 12 1 1 7 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI433852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX571745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH878608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB454094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316534   ⟹   ENSP00000313169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,122,311 - 110,205,042 (-)Ensembl
RefSeq Acc Id: ENST00000355301   ⟹   ENSP00000347452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,708 - 110,204,972 (-)Ensembl
RefSeq Acc Id: ENST00000393272   ⟹   ENSP00000376953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,336 - 110,205,066 (-)Ensembl
RefSeq Acc Id: ENST00000417665   ⟹   ENSP00000402176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,708 - 110,204,995 (-)Ensembl
RefSeq Acc Id: ENST00000418527   ⟹   ENSP00000412351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,178,041 - 110,204,999 (-)Ensembl
RefSeq Acc Id: ENST00000422492   ⟹   ENSP00000392562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,125,399 - 110,129,259 (-)Ensembl
RefSeq Acc Id: ENST00000445609   ⟹   ENSP00000389879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,348 - 110,205,013 (-)Ensembl
RefSeq Acc Id: ENST00000449600   ⟹   ENSP00000406453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,178,754 - 110,204,961 (-)Ensembl
RefSeq Acc Id: ENST00000461707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,588 - 110,205,001 (-)Ensembl
RefSeq Acc Id: ENST00000493051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,128,952 - 110,144,548 (-)Ensembl
RefSeq Acc Id: ENST00000496524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,348 - 110,205,017 (-)Ensembl
RefSeq Acc Id: ENST00000674677   ⟹   ENSP00000502265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,409 - 110,201,494 (-)Ensembl
RefSeq Acc Id: ENST00000675067   ⟹   ENSP00000502817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,438 - 110,204,988 (-)Ensembl
RefSeq Acc Id: ENST00000675294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,409 - 110,133,577 (-)Ensembl
RefSeq Acc Id: ENST00000675356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,438 - 110,205,007 (-)Ensembl
RefSeq Acc Id: ENST00000675632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,438 - 110,150,588 (-)Ensembl
RefSeq Acc Id: ENST00000675752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,585 - 110,204,983 (-)Ensembl
RefSeq Acc Id: ENST00000676028   ⟹   ENSP00000502639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,438 - 110,204,989 (-)Ensembl
RefSeq Acc Id: ENST00000676053   ⟹   ENSP00000502475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,438 - 110,204,988 (-)Ensembl
RefSeq Acc Id: ENST00000676091   ⟹   ENSP00000502528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,708 - 110,168,454 (-)Ensembl
RefSeq Acc Id: ENST00000676165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,438 - 110,205,007 (-)Ensembl
RefSeq Acc Id: ENST00000676258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,123,880 - 110,204,983 (-)Ensembl
RefSeq Acc Id: NM_000272   ⟹   NP_000263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)ENTREZGENE
GRCh372110,880,913 - 110,962,639 (-)NCBI
Build 362110,237,177 - 110,319,883 (-)NCBI Archive
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001128178   ⟹   NP_001121650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)NCBI
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001128179   ⟹   NP_001121651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)NCBI
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374256   ⟹   NP_001361185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
RefSeq Acc Id: NM_001374257   ⟹   NP_001361186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
RefSeq Acc Id: NM_207181   ⟹   NP_997064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)ENTREZGENE
GRCh372110,880,913 - 110,962,639 (-)NCBI
Build 362110,292,914 - 110,319,883 (-)NCBI Archive
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263676   ⟹   XP_005263733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,011 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263677   ⟹   XP_005263734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,011 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263678   ⟹   XP_005263735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,011 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712551   ⟹   XP_006712614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,011 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712552   ⟹   XP_006712615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,147,940 - 110,205,011 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511244   ⟹   XP_011509546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,974 - 110,205,011 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121651   ⟸   NM_001128179
- Peptide Label: isoform 4
- UniProtKB: O15259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121650   ⟸   NM_001128178
- Peptide Label: isoform 3
- UniProtKB: O15259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997064   ⟸   NM_207181
- Peptide Label: isoform 2
- UniProtKB: O15259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000263   ⟸   NM_000272
- Peptide Label: isoform 1
- UniProtKB: O15259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263734   ⟸   XM_005263677
- Peptide Label: isoform X4
- UniProtKB: C9JNM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263733   ⟸   XM_005263676
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005263735   ⟸   XM_005263678
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006712614   ⟸   XM_006712551
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006712615   ⟸   XM_006712552
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011509546   ⟸   XM_011511244
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001361185   ⟸   NM_001374256
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001361186   ⟸   NM_001374257
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000402176   ⟸   ENST00000417665
RefSeq Acc Id: ENSP00000412351   ⟸   ENST00000418527
RefSeq Acc Id: ENSP00000389879   ⟸   ENST00000445609
RefSeq Acc Id: ENSP00000376953   ⟸   ENST00000393272
RefSeq Acc Id: ENSP00000347452   ⟸   ENST00000355301
RefSeq Acc Id: ENSP00000313169   ⟸   ENST00000316534
RefSeq Acc Id: ENSP00000406453   ⟸   ENST00000449600
RefSeq Acc Id: ENSP00000392562   ⟸   ENST00000422492
RefSeq Acc Id: ENSP00000502265   ⟸   ENST00000674677
RefSeq Acc Id: ENSP00000502817   ⟸   ENST00000675067
RefSeq Acc Id: ENSP00000502528   ⟸   ENST00000676091
RefSeq Acc Id: ENSP00000502475   ⟸   ENST00000676053
RefSeq Acc Id: ENSP00000502639   ⟸   ENST00000676028
Protein Domains
SH3

Promoters
RGD ID:6861316
Promoter ID:EPDNEW_H3823
Type:initiation region
Name:NPHP1_1
Description:nephrocystin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,204,992 - 110,205,052EPDNEW
RGD ID:6797885
Promoter ID:HG_KWN:34414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355301,   NM_001128178,   OTTHUMT00000253919,   OTTHUMT00000253920,   OTTHUMT00000338098,   OTTHUMT00000338099,   OTTHUMT00000338100,   OTTHUMT00000338101,   OTTHUMT00000338102,   UC002TFP.2,   UC010FJV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362110,319,694 - 110,320,194 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000272.4(NPHP1):c.438T>C (p.Asn146=) single nucleotide variant Joubert syndrome 4 [RCV001135998]|Nephronophthisis 1 [RCV001132631]|Nephronophthisis [RCV000527910]|Senior-Loken syndrome 1 [RCV001132630] Chr2:110169890 [GRCh38]
Chr2:110927467 [GRCh37]
Chr2:2q13
benign|likely benign
NM_000272.4(NPHP1):c.1884+1G>T single nucleotide variant Nephronophthisis 1 [RCV000003682] Chr2:110129185 [GRCh38]
Chr2:110886762 [GRCh37]
Chr2:2q13
pathogenic
NPHP1, IVS14, 1-BP DEL, G, +1 deletion Nephronophthisis 1 [RCV000003683] Chr2:2q13 pathogenic
NM_000272.4(NPHP1):c.80T>A (p.Leu27Ter) single nucleotide variant Nephronophthisis 1 [RCV000003684]|Nephronophthisis [RCV000234828] Chr2:110201484 [GRCh38]
Chr2:110959061 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.1027G>A (p.Gly343Arg) single nucleotide variant NPHP1-Related Disorders [RCV000778560]|Nephronophthisis 1 [RCV000003685]|Nephronophthisis [RCV000537800]|not provided [RCV000520742] Chr2:110163048 [GRCh38]
Chr2:110920625 [GRCh37]
Chr2:2q13
pathogenic
NPHP1, DEL deletion Joubert syndrome 4 [RCV000003688]|Nephronophthisis 1 [RCV000003686]|Senior-Loken syndrome 1 [RCV000003687] Chr2:2q13 pathogenic
NM_000272.4(NPHP1):c.1226G>A (p.Arg409His) single nucleotide variant Nephronophthisis [RCV001228193]|not provided [RCV000728281] Chr2:110160152 [GRCh38]
Chr2:110917729 [GRCh37]
Chr2:2q13
uncertain significance
Single allele duplication Nephronophthisis [RCV000545391] Chr2:110123771..110204988 [GRCh38]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110321480)x1 copy number loss See cases [RCV000133908] Chr2:110104900..110321480 [GRCh38]
Chr2:110862477..111079057 [GRCh37]
Chr2:110219766..110513555 [NCBI36]
Chr2:2q13
benign
NC_000002.11:g.110922735A>AA single nucleotide variant not specified [RCV000728486] Chr2:110165157..110165158 [GRCh38]
Chr2:110922735 [GRCh37]
Chr2:2q13
likely benign
NM_000272.4(NPHP1):c.1117G>A (p.Gly373Ser) single nucleotide variant not provided [RCV000728782] Chr2:110161608 [GRCh38]
Chr2:110919185 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1264A>G (p.Ile422Val) single nucleotide variant not provided [RCV000729398] Chr2:110150244 [GRCh38]
Chr2:110907821 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1587A>G (p.Ile529Met) single nucleotide variant Nephronophthisis [RCV000638098]|not provided [RCV000594034] Chr2:110144503 [GRCh38]
Chr2:110902080 [GRCh37]
Chr2:2q13
uncertain significance
Single allele deletion Nephronophthisis 1 [RCV000529276] Chr2:110095383..110217525 [GRCh38]
Chr2:110852960..110975102 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.1698-10del deletion Nephronophthisis [RCV001088070]|not provided [RCV000733585] Chr2:110131801 [GRCh38]
Chr2:110889378 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) single nucleotide variant Nephronophthisis [RCV001211948] Chr2:110123943 [GRCh38]
Chr2:110881520 [GRCh37]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000050264] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0 copy number loss See cases [RCV000133583] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
pathogenic|benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104900-110201550)x3 copy number gain See cases [RCV000050451] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain Autism [RCV000050514]|See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025659-110207160)x1 copy number loss See cases [RCV000050358] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025659-110371270)x0 copy number loss See cases [RCV000051262] Chr2:110025659..110371270 [GRCh38]
Chr2:110783236..111128847 [GRCh37]
Chr2:110140525..110563384 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q13(chr2:109936618-110452159)x1 copy number loss See cases [RCV000053606] Chr2:109936618..110452159 [GRCh38]
Chr2:110694195..111209736 [GRCh37]
Chr2:110051484..110644273 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110212693)x1 copy number loss See cases [RCV000053607] Chr2:110084138..110212693 [GRCh38]
Chr2:110841715..110970270 [GRCh37]
Chr2:110199004..110327559 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110611314)x1 copy number loss See cases [RCV000053608] Chr2:110084138..110611314 [GRCh38]
Chr2:110841715..111368891 [GRCh37]
Chr2:110199004..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084194-110212693)x1 copy number loss See cases [RCV000053609] Chr2:110084194..110212693 [GRCh38]
Chr2:110841771..110970270 [GRCh37]
Chr2:110199060..110327559 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110095383-110211318)x1 copy number loss See cases [RCV000053610] Chr2:110095383..110211318 [GRCh38]
Chr2:110852960..110968895 [GRCh37]
Chr2:110210249..110326184 [NCBI36]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.793A>T (p.Asn265Tyr) single nucleotide variant not specified [RCV000117828] Chr2:110164666 [GRCh38]
Chr2:110922243 [GRCh37]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.1184dup (p.Leu396fs) duplication Nephronophthisis [RCV001204206]|not provided [RCV000401101] Chr2:110160193..110160194 [GRCh38]
Chr2:110917770..110917771 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.133A>C (p.Ile45Leu) single nucleotide variant Nephronophthisis [RCV000861944]|not specified [RCV000078488] Chr2:110201431 [GRCh38]
Chr2:110959008 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000272.4(NPHP1):c.1755T>C (p.Tyr585=) single nucleotide variant not provided [RCV000078489] Chr2:110131734 [GRCh38]
Chr2:110889311 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) single nucleotide variant Joubert syndrome 4 [RCV000313743]|Nephronophthisis 1 [RCV001094567]|Nephronophthisis [RCV000400518]|Senior-Loken syndrome 1 [RCV000367290]|not specified [RCV000078490] Chr2:110165126 [GRCh38]
Chr2:110922703 [GRCh37]
Chr2:2q13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000272.4(NPHP1):c.773C>T (p.Ala258Val) single nucleotide variant Nephronophthisis [RCV001243180]|not provided [RCV000078491] Chr2:110164686 [GRCh38]
Chr2:110922263 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) single nucleotide variant Joubert syndrome 4 [RCV000385350]|Nephronophthisis 1 [RCV001094559]|Nephronophthisis [RCV000293377]|Senior-Loken syndrome 1 [RCV000350672]|not specified [RCV000117829] Chr2:110201449 [GRCh38]
Chr2:110959026 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) single nucleotide variant Joubert syndrome 1 [RCV000986793]|Joubert syndrome 4 [RCV000345710]|Mental retardation, X-linked 102 [RCV001258231]|Nephronophthisis 1 [RCV001094569]|Nephronophthisis [RCV000205933]|Senior-Loken syndrome 1 [RCV000307224]|not specified [RCV000117830] Chr2:110204955 [GRCh38]
Chr2:110962532 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) single nucleotide variant Joubert syndrome 4 [RCV000394096]|Nephronophthisis 1 [RCV001094553]|Nephronophthisis [RCV000278419]|Senior-Loken syndrome 1 [RCV000341366]|not specified [RCV000117831] Chr2:110164649 [GRCh38]
Chr2:110922226 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000272.4(NPHP1):c.940-17G>A single nucleotide variant not specified [RCV000180481] Chr2:110163152 [GRCh38]
Chr2:110920729 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) single nucleotide variant Joubert syndrome 4 [RCV000328453]|Nephronophthisis 1 [RCV001094597]|Nephronophthisis [RCV000376065]|Senior-Loken syndrome 1 [RCV000283997]|not specified [RCV000180121] Chr2:110164629 [GRCh38]
Chr2:110922206 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q13(chr2:110104900-110207160)x1 copy number loss See cases [RCV000050930] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
NM_000272.3(NPHP1):c.625-3dup duplication Joubert syndrome 4 [RCV000490473]|Leber congenital amaurosis [RCV000144477]|not specified [RCV000728486] Chr2:110165157..110165158 [GRCh38]
Chr2:110922740 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_000272.4(NPHP1):c.1109C>G (p.Ala370Gly) single nucleotide variant not provided [RCV000173661] Chr2:110161616 [GRCh38]
Chr2:110919193 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) single nucleotide variant Joubert syndrome 4 [RCV000305677]|Nephronophthisis 1 [RCV001094562]|Nephronophthisis [RCV000353470]|Senior-Loken syndrome 1 [RCV000390136]|not provided [RCV000173662] Chr2:110161690 [GRCh38]
Chr2:110919267 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.1080A>G (p.Gln360=) single nucleotide variant not provided [RCV000173663] Chr2:110161645 [GRCh38]
Chr2:110919222 [GRCh37]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:110025659-110207160)x3 copy number gain See cases [RCV000133827] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.1154T>C (p.Ile385Thr) single nucleotide variant not provided [RCV000173990] Chr2:110160224 [GRCh38]
Chr2:110917801 [GRCh37]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.1438-4C>T single nucleotide variant Joubert syndrome 4 [RCV001128802]|Nephronophthisis 1 [RCV001128804]|Nephronophthisis [RCV000230927]|Senior-Loken syndrome 1 [RCV001128803]|not specified [RCV000174670] Chr2:110146839 [GRCh38]
Chr2:110904416 [GRCh37]
Chr2:2q13
benign|likely benign|uncertain significance
GRCh38/hg38 2q13(chr2:109623720-110207160)x1 copy number loss See cases [RCV000133772] Chr2:109623720..110207160 [GRCh38]
Chr2:110381297..110964737 [GRCh37]
Chr2:109738586..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x3 copy number gain See cases [RCV000134229] Chr2:110104900..110209066 [GRCh38]
Chr2:110862477..110966643 [GRCh37]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x1 copy number loss See cases [RCV000134230] Chr2:110104900..110209066 [GRCh38]
Chr2:110862477..110966643 [GRCh37]
Chr2:110219766..110323932 [NCBI36]
Chr2:2q13
benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110076063-110257869)x3 copy number gain See cases [RCV000134234] Chr2:110076063..110257869 [GRCh38]
Chr2:110833640..111015446 [GRCh37]
Chr2:110190929..110348650 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:109959903-110360538)x3 copy number gain See cases [RCV000134235] Chr2:109959903..110360538 [GRCh38]
Chr2:110717480..111118115 [GRCh37]
Chr2:110074769..110552653 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104897-110207198)x3 copy number gain See cases [RCV000134039] Chr2:110104897..110207198 [GRCh38]
Chr2:110862474..110964775 [GRCh37]
Chr2:110219763..110322064 [NCBI36]
Chr2:2q13
conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104897-110207198)x1 copy number loss See cases [RCV000134041] Chr2:110104897..110207198 [GRCh38]
Chr2:110862474..110964775 [GRCh37]
Chr2:110219763..110322064 [NCBI36]
Chr2:2q13
benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110123094-110207198)x3 copy number gain See cases [RCV000134122] Chr2:110123094..110207198 [GRCh38]
Chr2:110880671..110964775 [GRCh37]
Chr2:110237960..110322064 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104897-110321488)x1 copy number loss See cases [RCV000134789] Chr2:110104897..110321488 [GRCh38]
Chr2:110862474..111079065 [GRCh37]
Chr2:110219763..110513563 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025674-110321488)x3 copy number gain See cases [RCV000134815] Chr2:110025674..110321488 [GRCh38]
Chr2:110783251..111079065 [GRCh37]
Chr2:110140540..110513563 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x1 copy number loss See cases [RCV000135500] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x3 copy number gain See cases [RCV000135509] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x1 copy number loss See cases [RCV000135460] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13
conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110025459-110207301)x3 copy number gain See cases [RCV000135422] Chr2:110025459..110207301 [GRCh38]
Chr2:110783036..110964878 [GRCh37]
Chr2:110140325..110322167 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025681-110576905)x1 copy number loss See cases [RCV000136417] Chr2:110025681..110576905 [GRCh38]
Chr2:110783258..111334482 [GRCh37]
Chr2:110140547..110811832 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110143816-110222824)x1 copy number loss See cases [RCV000135890] Chr2:110143816..110222824 [GRCh38]
Chr2:110901393..110980401 [GRCh37]
Chr2:110258682..110337690 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110123660-110207160)x3 copy number gain See cases [RCV000137047] Chr2:110123660..110207160 [GRCh38]
Chr2:110881237..110964737 [GRCh37]
Chr2:110238526..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:109975055-110576905)x3 copy number gain See cases [RCV000137971] Chr2:109975055..110576905 [GRCh38]
Chr2:110732632..111334482 [GRCh37]
Chr2:110089921..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q13(chr2:109975072-110207198)x3 copy number gain See cases [RCV000138513] Chr2:109975072..110207198 [GRCh38]
Chr2:110732649..110964775 [GRCh37]
Chr2:110089938..110322064 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110049995-110576905)x3 copy number gain See cases [RCV000138366] Chr2:110049995..110576905 [GRCh38]
Chr2:110807572..111334482 [GRCh37]
Chr2:110164861..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110104897-110371270)x1 copy number loss See cases [RCV000138384] Chr2:110104897..110371270 [GRCh38]
Chr2:110862474..111128847 [GRCh37]
Chr2:110219763..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110257869)x1 copy number loss See cases [RCV000140147] Chr2:110104900..110257869 [GRCh38]
Chr2:110862477..111015446 [GRCh37]
Chr2:110219766..110348650 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110025674-110207198)x3 copy number gain See cases [RCV000139567] Chr2:110025674..110207198 [GRCh38]
Chr2:110783251..110964775 [GRCh37]
Chr2:110140540..110322064 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q13(chr2:110066680-110225841)x0 copy number loss See cases [RCV000140789] Chr2:110066680..110225841 [GRCh38]
Chr2:110824257..110983418 [GRCh37]
Chr2:110181546..110340707 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q13(chr2:110076063-110209066)x1 copy number loss See cases [RCV000141046] Chr2:110076063..110209066 [GRCh38]
Chr2:110833640..110966643 [GRCh37]
Chr2:110190929..110323932 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110076063-110209066)x3 copy number gain See cases [RCV000141047] Chr2:110076063..110209066 [GRCh38]
Chr2:110833640..110966643 [GRCh37]
Chr2:2q13
benign
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q13(chr2:109975055-110207160)x1 copy number loss See cases [RCV000141492] Chr2:109975055..110207160 [GRCh38]
Chr2:110732632..110964737 [GRCh37]
Chr2:110089921..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110143902-110222910)x1 copy number loss See cases [RCV000141586] Chr2:110143902..110222910 [GRCh38]
Chr2:110901479..110980487 [GRCh37]
Chr2:110258768..110337776 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x4 copy number gain See cases [RCV000142550] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000148275] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x3 copy number gain See cases [RCV000148241] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x1 copy number loss See cases [RCV000148234] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0 copy number loss See cases [RCV000148115] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q13(chr2:110025659-110207160)x1 copy number loss See cases [RCV000148185] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) single nucleotide variant Joubert syndrome 4 [RCV000338020]|Joubert syndrome 4 [RCV000515315]|Nephronophthisis 1 [RCV001094558]|Nephronophthisis [RCV000195676]|Senior-Loken syndrome 1 [RCV000372811]|not specified [RCV000153590] Chr2:110178520 [GRCh38]
Chr2:110936097 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.415_420GAAGAG[1] (p.Glu141_Glu142del) microsatellite Nephronophthisis [RCV001064975]|not provided [RCV000178743] Chr2:110169902..110169907 [GRCh38]
Chr2:110927479..110927484 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.330-4G>A single nucleotide variant not provided [RCV000178744] Chr2:110170002 [GRCh38]
Chr2:110927579 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.635_637AAG[5] (p.Glu215dup) microsatellite Joubert syndrome [RCV000309235]|Nephronophthisis [RCV000270468]|Renal dysplasia and retinal aplasia [RCV000362732]|not provided [RCV000179740] Chr2:110165133..110165134 [GRCh38]
Chr2:110922710..110922711 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.905G>A (p.Gly302Glu) single nucleotide variant Nephronophthisis [RCV001064976]|not provided [RCV000180122] Chr2:110164554 [GRCh38]
Chr2:110922131 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) single nucleotide variant Joubert syndrome 4 [RCV000289524]|Joubert syndrome 4 [RCV000765498]|Nephronophthisis 1 [RCV001094551]|Nephronophthisis [RCV000394876]|Senior-Loken syndrome 1 [RCV000346804]|not provided [RCV000729703] Chr2:110148020 [GRCh38]
Chr2:110905597 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) single nucleotide variant Joubert syndrome 4 [RCV000341089]|Nephronophthisis 1 [RCV001094552]|Nephronophthisis [RCV000399532]|Senior-Loken syndrome 1 [RCV000283874]|not provided [RCV000290776] Chr2:110161604 [GRCh38]
Chr2:110919181 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup duplication Nephronophthisis [RCV000195868] Chr2:2q13 benign
NM_000272.4(NPHP1):c.728+8del deletion not provided [RCV000195989] Chr2:110165044 [GRCh38]
Chr2:110922621 [GRCh37]
Chr2:2q13
likely benign
NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln) single nucleotide variant Joubert syndrome 4 [RCV001128695]|Nephronophthisis 1 [RCV001128696]|Nephronophthisis [RCV000196832]|Senior-Loken syndrome 1 [RCV001135698]|not provided [RCV000730183] Chr2:110123964 [GRCh38]
Chr2:110881541 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.2081A>G (p.Gln694Arg) single nucleotide variant Nephronophthisis [RCV000199257]|not specified [RCV000248910] Chr2:110123912 [GRCh38]
Chr2:110881489 [GRCh37]
Chr2:2q13
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.456A>G (p.Ser152=) single nucleotide variant Joubert syndrome 4 [RCV000267804]|Nephronophthisis 1 [RCV000378671]|Senior-Loken syndrome 1 [RCV000315824]|not provided [RCV000929993] Chr2:110169872 [GRCh38]
Chr2:110927449 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) single nucleotide variant Joubert syndrome 4 [RCV000319080]|Nephronophthisis 1 [RCV001094595]|Nephronophthisis [RCV000385395]|Senior-Loken syndrome 1 [RCV000261599]|not specified [RCV000591051] Chr2:110143602 [GRCh38]
Chr2:110901179 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.2118G>A (p.Leu706=) single nucleotide variant Nephronophthisis [RCV001089361]|not provided [RCV000406042] Chr2:110123875 [GRCh38]
Chr2:110881452 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q13(chr2:110883898-110983418)x3 copy number gain See cases [RCV000449025] Chr2:110883898..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110973419)x1 copy number loss See cases [RCV000449066] Chr2:110504318..110973419 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del deletion Nephronophthisis [RCV000210537] Chr2:2q13 pathogenic
GRCh37/hg19 2q13(chr2:110824957-110983703) copy number loss Hereditary liability to pressure palsies [RCV000767555] Chr2:110824957..110983703 [GRCh37]
Chr2:2q13
pathogenic
Single allele duplication Autism spectrum disorder [RCV000208724] Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) single nucleotide variant Joubert syndrome 4 [RCV000365164]|Nephronophthisis 1 [RCV001094594]|Nephronophthisis [RCV000310472]|Senior-Loken syndrome 1 [RCV000401330]|not provided [RCV000730798] Chr2:110123893 [GRCh38]
Chr2:110881470 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del deletion Nephronophthisis 1 [RCV001251510]|Nephronophthisis [RCV000227323] Chr2:110123336..110205062 [GRCh38]
Chr2:110880913..110962639 [GRCh37]
Chr2:2q13
pathogenic|uncertain significance
2q13 deletion (290 kb) deletion Nephronophthisis [RCV000234819] Chr2:2q13 pathogenic
NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu) single nucleotide variant Joubert syndrome 4 [RCV000303007]|Nephronophthisis 1 [RCV000360073]|Nephronophthisis [RCV001242392]|Senior-Loken syndrome 1 [RCV000264267] Chr2:110125677 [GRCh38]
Chr2:110883254 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) single nucleotide variant Joubert syndrome 4 [RCV001128921]|Nephronophthisis 1 [RCV001128922]|Nephronophthisis [RCV001084952]|Senior-Loken syndrome 1 [RCV001128920]|not provided [RCV000223966]|not specified [RCV000244219] Chr2:110165091 [GRCh38]
Chr2:110922668 [GRCh37]
Chr2:2q13
benign|likely benign
NM_000272.4(NPHP1):c.969G>A (p.Thr323=) single nucleotide variant Joubert syndrome 4 [RCV000369975]|Nephronophthisis 1 [RCV001094593]|Nephronophthisis [RCV000331691]|Senior-Loken syndrome 1 [RCV000277110]|not provided [RCV000595688] Chr2:110163106 [GRCh38]
Chr2:110920683 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser) single nucleotide variant Joubert syndrome 4 [RCV000290000]|Nephronophthisis 1 [RCV001094596]|Nephronophthisis [RCV000325159]|Senior-Loken syndrome 1 [RCV000381986]|not provided [RCV000732923] Chr2:110164599 [GRCh38]
Chr2:110922176 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110881237-110963848)x1 copy number loss See cases [RCV000239882] Chr2:110881237..110963848 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) single nucleotide variant Joubert syndrome 4 [RCV000354240]|Nephronophthisis 1 [RCV000315759]|Senior-Loken syndrome 1 [RCV000267736]|not specified [RCV000501648] Chr2:110143549 [GRCh38]
Chr2:110901126 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.829C>A (p.Arg277=) single nucleotide variant not provided [RCV000727236]|not specified [RCV000253367] Chr2:110164630 [GRCh38]
Chr2:110922207 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.1028-47G>A single nucleotide variant not specified [RCV000241657] Chr2:110161744 [GRCh38]
Chr2:110919321 [GRCh37]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.1697+19C>T single nucleotide variant not specified [RCV000244734] Chr2:110143523 [GRCh38]
Chr2:110901100 [GRCh37]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.1027+34A>C single nucleotide variant not specified [RCV000249686] Chr2:110163014 [GRCh38]
Chr2:110920591 [GRCh37]
Chr2:2q13
likely benign
NM_000272.4(NPHP1):c.2098G>C (p.Gly700Arg) single nucleotide variant not provided [RCV000487521] Chr2:110123895 [GRCh38]
Chr2:110881472 [GRCh37]
Chr2:2q13
likely pathogenic
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3
pathogenic
NM_000272.4(NPHP1):c.1437+9G>A single nucleotide variant Nephronophthisis [RCV000476895]|not specified [RCV000242778] Chr2:110147907 [GRCh38]
Chr2:110905484 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.1521-47T>C single nucleotide variant not specified [RCV000252713] Chr2:110144616 [GRCh38]
Chr2:110902193 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1
pathogenic
NM_000272.4(NPHP1):c.329+1G>A single nucleotide variant not provided [RCV000351846] Chr2:110178422 [GRCh38]
Chr2:110935999 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.*250C>T single nucleotide variant Joubert syndrome 4 [RCV000345448]|Nephronophthisis 1 [RCV000390226]|Senior-Loken syndrome 1 [RCV000313823] Chr2:110123541 [GRCh38]
Chr2:110881118 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.*333_*335AAC[1] microsatellite Joubert syndrome [RCV000278347]|Nephronophthisis [RCV000373070]|Renal dysplasia and retinal aplasia [RCV000338346] Chr2:110123453..110123455 [GRCh38]
Chr2:110881030..110881032 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1955C>T (p.Thr652Met) single nucleotide variant Nephronophthisis [RCV001067121]|not provided [RCV000303839] Chr2:110124038 [GRCh38]
Chr2:110881615 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.979A>G (p.Ile327Val) single nucleotide variant Nephronophthisis [RCV001054468]|not provided [RCV000345973] Chr2:110163096 [GRCh38]
Chr2:110920673 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg) single nucleotide variant Joubert syndrome 4 [RCV000299909]|Nephronophthisis 1 [RCV000357140]|Senior-Loken syndrome 1 [RCV000274290] Chr2:110163087 [GRCh38]
Chr2:110920664 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) single nucleotide variant Joubert syndrome 4 [RCV000366304]|Nephronophthisis 1 [RCV000321777]|Senior-Loken syndrome 1 [RCV000264341] Chr2:110168483 [GRCh38]
Chr2:110926060 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.555dup (p.Pro186fs) duplication Nephronophthisis 1 [RCV000369766]|Nephronophthisis [RCV000473574]|not provided [RCV000790838] Chr2:110168520..110168521 [GRCh38]
Chr2:110926097..110926098 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.184G>A (p.Ala62Thr) single nucleotide variant Nephronophthisis [RCV001047110]|not provided [RCV000293229] Chr2:110179644 [GRCh38]
Chr2:110937221 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.619C>G (p.Leu207Val) single nucleotide variant Nephronophthisis [RCV001231028]|not provided [RCV000326014] Chr2:110168457 [GRCh38]
Chr2:110926034 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr) single nucleotide variant Joubert syndrome 4 [RCV000765499]|Nephronophthisis [RCV001084490]|not provided [RCV000363080] Chr2:110163104 [GRCh38]
Chr2:110920681 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.50A>G (p.Asn17Ser) single nucleotide variant Nephronophthisis [RCV001051585]|not provided [RCV000363173] Chr2:110204919 [GRCh38]
Chr2:110962496 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1309T>G (p.Trp437Gly) single nucleotide variant not provided [RCV000331476] Chr2:110150199 [GRCh38]
Chr2:110907776 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln) single nucleotide variant Joubert syndrome 4 [RCV000293428]|Nephronophthisis 1 [RCV000381757]|Senior-Loken syndrome 1 [RCV000334175] Chr2:110146826 [GRCh38]
Chr2:110904403 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.*322A>G single nucleotide variant Joubert syndrome 4 [RCV000348740]|Nephronophthisis 1 [RCV000374254]|Senior-Loken syndrome 1 [RCV000293749] Chr2:110123469 [GRCh38]
Chr2:110881046 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1602C>T (p.His534=) single nucleotide variant Nephronophthisis [RCV000638105] Chr2:110143637 [GRCh38]
Chr2:110901214 [GRCh37]
Chr2:2q13
likely benign
NM_000272.4(NPHP1):c.669C>T (p.Gly223=) single nucleotide variant Joubert syndrome 4 [RCV000399200]|Nephronophthisis 1 [RCV000335771]|Senior-Loken syndrome 1 [RCV000300890] Chr2:110165111 [GRCh38]
Chr2:110922688 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.940-9T>C single nucleotide variant not provided [RCV000592172] Chr2:110163144 [GRCh38]
Chr2:110920721 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1027+5T>C single nucleotide variant not specified [RCV000592265] Chr2:110163043 [GRCh38]
Chr2:110920620 [GRCh37]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.385_387del (p.Ser129del) deletion not provided [RCV000592312] Chr2:110169941..110169943 [GRCh38]
Chr2:110927518..110927520 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.940-5T>C single nucleotide variant Joubert syndrome 4 [RCV001134448]|Nephronophthisis 1 [RCV001134446]|Senior-Loken syndrome 1 [RCV001134447]|not provided [RCV000592386] Chr2:110163140 [GRCh38]
Chr2:110920717 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110852875-111398472)x1 copy number loss See cases [RCV000598664] Chr2:110852875..111398472 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1597+7C>T single nucleotide variant not provided [RCV000591985] Chr2:110144486 [GRCh38]
Chr2:110902063 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1884+7A>G single nucleotide variant not provided [RCV000592696] Chr2:110129179 [GRCh38]
Chr2:110886756 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.*1C>T single nucleotide variant not provided [RCV000596950] Chr2:110123790 [GRCh38]
Chr2:110881367 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1520+1del deletion Nephronophthisis 1 [RCV000003683]|Nephronophthisis [RCV000550431] Chr2:110146752 [GRCh38]
Chr2:110904329 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.2025G>A (p.Trp675Ter) single nucleotide variant not provided [RCV000627303] Chr2:110123968 [GRCh38]
Chr2:110881545 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1726A>G (p.Met576Val) single nucleotide variant Nephronophthisis [RCV000821333]|not provided [RCV000730344] Chr2:110131763 [GRCh38]
Chr2:110889340 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1066C>T (p.Leu356Phe) single nucleotide variant not provided [RCV000596876] Chr2:110161659 [GRCh38]
Chr2:110919236 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1781T>C (p.Leu594Pro) single nucleotide variant not provided [RCV000730401] Chr2:110131708 [GRCh38]
Chr2:110889285 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.61A>G (p.Lys21Glu) single nucleotide variant Nephronophthisis [RCV001038188]|not provided [RCV000593763] Chr2:110204908 [GRCh38]
Chr2:110962485 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128179.2(NPHP1):c.144-8544T>C single nucleotide variant not provided [RCV000593772] Chr2:110178542 [GRCh38]
Chr2:110936119 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.2006G>A (p.Arg669His) single nucleotide variant not provided [RCV000597278] Chr2:110123987 [GRCh38]
Chr2:110881564 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1765C>A (p.Leu589Ile) single nucleotide variant Nephronophthisis [RCV000638079] Chr2:110131724 [GRCh38]
Chr2:110889301 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128179.2(NPHP1):c.144-9628A>C single nucleotide variant not provided [RCV000591404] Chr2:110179626 [GRCh38]
Chr2:110937203 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser) single nucleotide variant Joubert syndrome 4 [RCV001132628]|Nephronophthisis 1 [RCV001132629]|Senior-Loken syndrome 1 [RCV001132627]|not provided [RCV000730187] Chr2:110169868 [GRCh38]
Chr2:110927445 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1719del (p.Ile573fs) deletion not provided [RCV000731137] Chr2:110131770 [GRCh38]
Chr2:110889347 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.1597+9C>G single nucleotide variant not provided [RCV000732002] Chr2:110144484 [GRCh38]
Chr2:110902061 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1011_1013delinsGCT (p.Gln338Leu) indel not provided [RCV000732047] Chr2:110163062..110163064 [GRCh38]
Chr2:110920639..110920641 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.102A>G (p.Lys34=) single nucleotide variant Nephronophthisis [RCV001078658]|not provided [RCV000731299] Chr2:110201462 [GRCh38]
Chr2:110959039 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.958G>A (p.Val320Met) single nucleotide variant not provided [RCV000733083] Chr2:110163117 [GRCh38]
Chr2:110920694 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1759C>G (p.Gln587Glu) single nucleotide variant not provided [RCV000735089] Chr2:110131730 [GRCh38]
Chr2:110889307 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.2(NPHP1):c.771+3G>A single nucleotide variant not provided [RCV000735157] Chr2:110164685 [GRCh38]
Chr2:110922262 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.2(NPHP1):c.771+33G>A single nucleotide variant not provided [RCV000730221] Chr2:110164655 [GRCh38]
Chr2:110922232 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1709A>G (p.Glu570Gly) single nucleotide variant Nephronophthisis [RCV001213370]|not provided [RCV000733167] Chr2:110131780 [GRCh38]
Chr2:110889357 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1184C>G (p.Pro395Arg) single nucleotide variant Nephronophthisis [RCV001202453]|not provided [RCV000730478] Chr2:110160194 [GRCh38]
Chr2:110917771 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1811-3C>T single nucleotide variant Nephronophthisis [RCV001041083]|not provided [RCV000730479] Chr2:110129262 [GRCh38]
Chr2:110886839 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.474C>T (p.Ile158=) single nucleotide variant not provided [RCV000595580] Chr2:110169854 [GRCh38]
Chr2:110927431 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1598-8C>G single nucleotide variant Nephronophthisis [RCV001052818]|not provided [RCV000734545] Chr2:110143649 [GRCh38]
Chr2:110901226 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1071G>A (p.Met357Ile) single nucleotide variant not provided [RCV000734601] Chr2:110161654 [GRCh38]
Chr2:110919231 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.6G>C (p.Leu2=) single nucleotide variant not provided [RCV000594542] Chr2:110204963 [GRCh38]
Chr2:110962540 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.2005C>T (p.Arg669Cys) single nucleotide variant Nephronophthisis [RCV000638091]|not provided [RCV000594594] Chr2:110123988 [GRCh38]
Chr2:110881565 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1616A>G (p.Tyr539Cys) single nucleotide variant Nephronophthisis [RCV001238597]|not provided [RCV000732499] Chr2:110143623 [GRCh38]
Chr2:110901200 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1699C>T (p.Leu567=) single nucleotide variant not provided [RCV000734854] Chr2:110131790 [GRCh38]
Chr2:110889367 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.712G>T (p.Ala238Ser) single nucleotide variant not provided [RCV000734864] Chr2:110165068 [GRCh38]
Chr2:110922645 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128179.2(NPHP1):c.144-8446T>C single nucleotide variant not provided [RCV000732803] Chr2:110178444 [GRCh38]
Chr2:110936021 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110852875-110982530)x3 copy number gain not provided [RCV000753089] Chr2:110852875..110982530 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110852875-110989364)x3 copy number gain not provided [RCV000753090] Chr2:110852875..110989364 [GRCh37]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.415G>T (p.Glu139Ter) single nucleotide variant not provided [RCV000730826] Chr2:110169913 [GRCh38]
Chr2:110927490 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.439G>A (p.Glu147Lys) single nucleotide variant Nephronophthisis [RCV001234024]|not provided [RCV000730887] Chr2:110169889 [GRCh38]
Chr2:110927466 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.336G>A (p.Gly112=) single nucleotide variant not provided [RCV000730935] Chr2:110169992 [GRCh38]
Chr2:110927569 [GRCh37]
Chr2:2q13
conflicting interpretations of pathogenicity|uncertain significance
NM_000272.4(NPHP1):c.555A>G (p.Lys185=) single nucleotide variant not provided [RCV000734259] Chr2:110168521 [GRCh38]
Chr2:110926098 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-111365996)x1 copy number loss See cases [RCV000449334] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980295)x1 copy number loss See cases [RCV000449362] Chr2:110873834..110980295 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873467-110966643)x1 copy number loss See cases [RCV000449465] Chr2:110873467..110966643 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss See cases [RCV000449482] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110873834-110983417)x3 copy number gain See cases [RCV000449243] Chr2:110873834..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110983418)x1 copy number loss See cases [RCV000446820] Chr2:110504318..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110824256-110983417)x1 copy number loss See cases [RCV000447289] Chr2:110824256..110983417 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980345)x3 copy number gain See cases [RCV000446857] Chr2:110873834..110980345 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110876903-110983418)x3 copy number gain See cases [RCV000447486] Chr2:110876903..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983417)x1 copy number loss See cases [RCV000446909] Chr2:110873834..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110496601-110983418)x3 copy number gain See cases [RCV000446128] Chr2:110496601..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110886115-110983418)x3 copy number gain See cases [RCV000447014] Chr2:110886115..110983418 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110825177-110983417)x1 copy number loss See cases [RCV000446418] Chr2:110825177..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110876905-110983417)x3 copy number gain See cases [RCV000446430] Chr2:110876905..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110497990-111400649)x3 copy number gain See cases [RCV000447601] Chr2:110497990..111400649 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110873992-110966643)x1 copy number loss See cases [RCV000446169] Chr2:110873992..110966643 [GRCh37]
Chr2:2q13
benign|likely benign
GRCh37/hg19 2q13(chr2:110874326-110983417)x3 copy number gain See cases [RCV000447160] Chr2:110874326..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980107)x3 copy number gain See cases [RCV000447626] Chr2:110873834..110980107 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110877050-110983418)x3 copy number gain See cases [RCV000446953] Chr2:110877050..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110825177-110983418)x1 copy number loss See cases [RCV000445735] Chr2:110825177..110983418 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.267G>A (p.Leu89=) single nucleotide variant not specified [RCV000422217] Chr2:110178485 [GRCh38]
Chr2:110936062 [GRCh37]
Chr2:2q13
likely benign
Single allele deletion Cone dystrophy [RCV000505010] Chr2:110095946..110226893 [GRCh38]
Chr2:110853523..110984470 [GRCh37]
Chr2:2q13
likely pathogenic
NM_000272.4(NPHP1):c.1692A>G (p.Val564=) single nucleotide variant not specified [RCV000436525] Chr2:110143547 [GRCh38]
Chr2:110901124 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110504318-111365996)x1 copy number loss See cases [RCV000445912] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110874326-110983418)x3 copy number gain See cases [RCV000446010] Chr2:110874326..110983418 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110504318-111370025)x3 copy number gain See cases [RCV000446018] Chr2:110504318..111370025 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983418)x3 copy number gain See cases [RCV000447874] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110874326-110973909)x3 copy number gain See cases [RCV000448519] Chr2:110874326..110973909 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110980108)x1 copy number loss See cases [RCV000448720] Chr2:110504318..110980108 [GRCh37]
Chr2:2q13
likely pathogenic
GRCh37/hg19 2q13(chr2:110824256-110983417)x3 copy number gain See cases [RCV000448881] Chr2:110824256..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110498141-110983418)x3 copy number gain See cases [RCV000448038] Chr2:110498141..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-111365996)x3 copy number gain See cases [RCV000447941] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110874326-111365996)x1 copy number loss See cases [RCV000448315] Chr2:110874326..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980346)x3 copy number gain See cases [RCV000448568] Chr2:110873834..110980346 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-111365996)x3 copy number gain See cases [RCV000448330] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.809G>T (p.Cys270Phe) single nucleotide variant Nephronophthisis [RCV000460006]|not provided [RCV000598043] Chr2:110164650 [GRCh38]
Chr2:110922227 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000272.4(NPHP1):c.1529_1530del (p.Glu510fs) deletion Nephronophthisis 1 [RCV000503438] Chr2:110144560..110144561 [GRCh38]
Chr2:110902137..110902138 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110875689-110967529) copy number loss Bardet-Biedl syndrome [RCV000498345] Chr2:110875689..110967529 [GRCh37]
Chr2:2q13
pathogenic|likely pathogenic
NM_000272.4(NPHP1):c.43C>A (p.Arg15Ser) single nucleotide variant not provided [RCV000493608] Chr2:110204926 [GRCh38]
Chr2:110962503 [GRCh37]
Chr2:2q13
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NM_000272.4(NPHP1):c.39G>A (p.Leu13=) single nucleotide variant Nephronophthisis [RCV000638100] Chr2:110204930 [GRCh38]
Chr2:110962507 [GRCh37]
Chr2:2q13
likely benign
NM_000272.4(NPHP1):c.2097G>A (p.Gln699=) single nucleotide variant Nephronophthisis [RCV000638108] Chr2:110123896 [GRCh38]
Chr2:110881473 [GRCh37]
Chr2:2q13
likely benign
NC_000002.12:g.(?_110123771)_(110204988_?)del deletion Nephronophthisis [RCV000533061] Chr2:110123771..110204988 [GRCh38]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.2028_2030AGA[2] (p.Glu679del) microsatellite not provided [RCV000596516] Chr2:110123957..110123959 [GRCh38]
Chr2:110881534..110881536 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.205-3T>C single nucleotide variant not provided [RCV000596976] Chr2:110178550 [GRCh38]
Chr2:110936127 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.493G>A (p.Ala165Thr) single nucleotide variant not provided [RCV000597926] Chr2:110169835 [GRCh38]
Chr2:110927412 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.156A>G (p.Leu52=) single nucleotide variant Nephronophthisis [RCV000558135] Chr2:110179672 [GRCh38]
Chr2:110937249 [GRCh37]
Chr2:2q13
likely benign
NM_000272.4(NPHP1):c.1933G>A (p.Asp645Asn) single nucleotide variant Nephronophthisis [RCV000638096] Chr2:110124060 [GRCh38]
Chr2:110881637 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1004C>T (p.Thr335Met) single nucleotide variant Nephronophthisis [RCV000861605]|not specified [RCV000594444] Chr2:110163071 [GRCh38]
Chr2:110920648 [GRCh37]
Chr2:2q13
benign
NM_000272.4(NPHP1):c.728+9G>A single nucleotide variant not provided [RCV000595972] Chr2:110165043 [GRCh38]
Chr2:110922620 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.973G>A (p.Gly325Arg) single nucleotide variant Nephronophthisis [RCV001206184]|not provided [RCV000597219] Chr2:110163102 [GRCh38]
Chr2:110920679 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110862477-110980401)x1 copy number loss not provided [RCV000585101] Chr2:110862477..110980401 [GRCh37]
Chr2:2q13
uncertain significance
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q13(chr2:110504318-111622976)x3 copy number gain not provided [RCV000682117] Chr2:110504318..111622976 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
NM_000272.4(NPHP1):c.1039C>T (p.Arg347Ter) single nucleotide variant Nephronophthisis [RCV000702943]|not provided [RCV001200637] Chr2:110161686 [GRCh38]
Chr2:110919263 [GRCh37]
Chr2:2q13
pathogenic
NC_000002.12:g.(?_110123791)_(110204968_?)del deletion Nephronophthisis [RCV000708169] Chr2:110123791..110204968 [GRCh38]
Chr2:110881368..110962545 [GRCh37]
Chr2:2q13
pathogenic
NC_000002.12:g.(?_110163048)_(110204968_?)del deletion Nephronophthisis [RCV000707907] Chr2:110163048..110204968 [GRCh38]
Chr2:110920625..110962545 [GRCh37]
Chr2:2q13
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_000272.4(NPHP1):c.1929+5A>C single nucleotide variant Joubert syndrome 4 [RCV001128700]|Nephronophthisis 1 [RCV001128702]|Nephronophthisis [RCV000685833]|Senior-Loken syndrome 1 [RCV001128701] Chr2:110125632 [GRCh38]
Chr2:110883209 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110843108-110982530)x1 copy number loss not provided [RCV000753083] Chr2:110843108..110982530 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110852875-111183762)x1 copy number loss not provided [RCV000753091] Chr2:110852875..111183762 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110852875-110980346)x3 copy number gain not provided [RCV000753087] Chr2:110852875..110980346 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110844047-110982530)x1 copy number loss not provided [RCV000753084] Chr2:110844047..110982530 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110849222-110985515)x3 copy number gain not provided [RCV000753086] Chr2:110849222..110985515 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110852875-110982530)x1 copy number loss not provided [RCV000753088] Chr2:110852875..110982530 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q13(chr2:110844047-110985515)x3 copy number gain not provided [RCV000753085] Chr2:110844047..110985515 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110854766-110990943)x3 copy number gain not provided [RCV000740560] Chr2:110854766..110990943 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110863095-110985515)x3 copy number gain not provided [RCV000740561] Chr2:110863095..110985515 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110863095-111183762)x1 copy number loss not provided [RCV000740562] Chr2:110863095..111183762 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.1530-4del deletion not provided [RCV000874201] Chr2:110131795 [GRCh38]
Chr2:110889372 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) single nucleotide variant Nephronophthisis [RCV001066849] Chr2:110204925 [GRCh38]
Chr2:110962502 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_110091603)_(110204968_?)del deletion Nephronophthisis [RCV001031333] Chr2:110849180..110962545 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.771+148G>T single nucleotide variant Joubert syndrome 4 [RCV001135916]|Nephronophthisis 1 [RCV001135915]|Senior-Loken syndrome 1 [RCV001135917] Chr2:110164540 [GRCh38]
Chr2:110922117 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.-17G>A single nucleotide variant Joubert syndrome 4 [RCV001132721]|Nephronophthisis 1 [RCV001131722]|Senior-Loken syndrome 1 [RCV001131721] Chr2:110204985 [GRCh38]
Chr2:110962562 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.1872T>A (p.Thr624=) single nucleotide variant not provided [RCV000924823] Chr2:110123953 [GRCh38]
Chr2:110881530 [GRCh37]
Chr2:2q13
likely benign
NM_000272.3:c.205-?_*455+?dup duplication Nephronophthisis [RCV000964276]   likely benign
NM_001128178.3(NPHP1):c.1353-9C>A single nucleotide variant Nephronophthisis [RCV000864655] Chr2:110144578 [GRCh38]
Chr2:110902155 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.1530-9C>T single nucleotide variant not provided [RCV000971858] Chr2:110131800 [GRCh38]
Chr2:110889377 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.963G>A (p.Ser321=) single nucleotide variant not provided [RCV000905918] Chr2:110160247 [GRCh38]
Chr2:110917824 [GRCh37]
Chr2:2q13
likely benign
NC_000002.12:g.(?_110144493)_(110150256_?)del deletion Nephronophthisis [RCV001033574] Chr2:110902070..110907833 [GRCh37]
Chr2:2q13
pathogenic
NC_000002.12:g.(?_110123791)_(110201494_?)del deletion Nephronophthisis [RCV001033811] Chr2:110881368..110959071 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.771+18T>A single nucleotide variant Nephronophthisis [RCV001052776] Chr2:110164670 [GRCh38]
Chr2:110922247 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110862477-110983703) copy number loss Nephronophthisis 1 [RCV000767832] Chr2:110862477..110983703 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.1040G>A (p.Arg347Gln) single nucleotide variant Nephronophthisis [RCV000816138] Chr2:110161685 [GRCh38]
Chr2:110919262 [GRCh37]
Chr2:2q13
uncertain significance
NM_000272.4(NPHP1):c.1811-2A>C single nucleotide variant NPHP1-Related Disorders [RCV000778559] Chr2:110129261 [GRCh38]
Chr2:110886838 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.258T>C (p.His86=) single nucleotide variant not provided [RCV000865905] Chr2:110178494 [GRCh38]
Chr2:110936071 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=) single nucleotide variant not provided [RCV000861617] Chr2:110129201 [GRCh38]
Chr2:110886778 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845665] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_000272.4(NPHP1):c.1550C>G (p.Thr517Ser) single nucleotide variant Nephronophthisis [RCV000820676] Chr2:110144540 [GRCh38]
Chr2:110902117 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848964] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849030] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849448] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849876] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980295)x1 copy number loss not provided [RCV000848739] Chr2:110863827..110980295 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849111] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849128] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849918] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849924] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1 copy number loss not provided [RCV000845995] Chr2:110873834..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848137] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849645] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849935] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849728] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss not provided [RCV000846093] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847227] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848529] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849223] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000847402] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849795] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110852804-110980919)x1 copy number loss not provided [RCV000849812] Chr2:110852804..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847554] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847587] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) single nucleotide variant Joubert syndrome 4 [RCV001135999]|Nephronophthisis 1 [RCV001136000]|Senior-Loken syndrome 1 [RCV001136001] Chr2:110169976 [GRCh38]
Chr2:110927553 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846488] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) single nucleotide variant Joubert syndrome 4 [RCV001131720]|Nephronophthisis 1 [RCV001131719]|Senior-Loken syndrome 1 [RCV001131718] Chr2:110204939 [GRCh38]
Chr2:110962516 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.*199A>G single nucleotide variant Joubert syndrome 4 [RCV001135694]|Nephronophthisis 1 [RCV001134191]|Senior-Loken syndrome 1 [RCV001134190] Chr2:110123592 [GRCh38]
Chr2:110881169 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846001] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980919)x1 copy number loss not provided [RCV000847199] Chr2:110873834..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000847401] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845821] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) deletion Joubert syndrome 4 [RCV001260993]|Nephronophthisis [RCV000791573] Chr2:110168521 [GRCh38]
Chr2:110926098 [GRCh37]
Chr2:2q13
pathogenic
NC_000002.12:g.(?_110123791)_(110164730_?)dup duplication Nephronophthisis [RCV001031361] Chr2:110881368..110922307 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847496] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110881368-110962545)x1 copy number loss not provided [RCV000997720] Chr2:110881368..110962545 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.110205022G>A single nucleotide variant Joubert syndrome 4 [RCV001132724]|Nephronophthisis 1 [RCV001132723]|Senior-Loken syndrome 1 [RCV001132722] Chr2:110205022 [GRCh38]
Chr2:110962599 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846867] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110973315)x1 copy number loss not provided [RCV000846368] Chr2:110873834..110973315 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849131] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss not provided [RCV000848197] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849179] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848731] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1 copy number loss not provided [RCV000848826] Chr2:110873834..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849807] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847965] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848384] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846484] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848410] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849370] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845935] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847243] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849991] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110975253)x1 copy number loss not provided [RCV000849996] Chr2:110873834..110975253 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849509] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849554] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000850026] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110986712)x1 copy number loss not provided [RCV000846085] Chr2:110863827..110986712 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847521] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845626] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845687] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) single nucleotide variant Nephronophthisis [RCV001211412] Chr2:110123930 [GRCh38]
Chr2:110881507 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_110168442)_(110204968_?)dup duplication Nephronophthisis [RCV001031360] Chr2:110926019..110962545 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846753] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.1717-5T>G single nucleotide variant Joubert syndrome 4 [RCV001131330]|Nephronophthisis 1 [RCV001131328]|Senior-Loken syndrome 1 [RCV001131329] Chr2:110125686 [GRCh38]
Chr2:110883263 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.175A>C (p.Asn59His) single nucleotide variant Nephronophthisis [RCV001230070] Chr2:110179653 [GRCh38]
Chr2:110937230 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys) single nucleotide variant Nephronophthisis [RCV001213542] Chr2:110178521 [GRCh38]
Chr2:110936098 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.913C>G (p.Leu305Val) single nucleotide variant Nephronophthisis [RCV001234344] Chr2:110161644 [GRCh38]
Chr2:110919221 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) single nucleotide variant Nephronophthisis [RCV001239557] Chr2:110144532 [GRCh38]
Chr2:110902109 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) single nucleotide variant Nephronophthisis [RCV001237807] Chr2:110129236 [GRCh38]
Chr2:110886813 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1530-4A>G single nucleotide variant Nephronophthisis [RCV001227217] Chr2:110131795 [GRCh38]
Chr2:110889372 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.475G>A (p.Ala159Thr) single nucleotide variant Nephronophthisis [RCV001210260] Chr2:110169853 [GRCh38]
Chr2:110927430 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser) single nucleotide variant Nephronophthisis [RCV001207556] Chr2:110169991 [GRCh38]
Chr2:110927568 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.910C>A (p.Gln304Lys) single nucleotide variant Nephronophthisis [RCV001230517] Chr2:110161647 [GRCh38]
Chr2:110919224 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) single nucleotide variant Nephronophthisis [RCV001248327] Chr2:110143548 [GRCh38]
Chr2:110901125 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846258] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000847732] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845741] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845789] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846992] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846994] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000845605] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000845702] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110988707)x1 copy number loss not provided [RCV000845667] Chr2:110873834..110988707 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) single nucleotide variant Joubert syndrome 4 [RCV001136002]|Nephronophthisis 1 [RCV001136004]|Senior-Loken syndrome 1 [RCV001136003] Chr2:110178512 [GRCh38]
Chr2:110936089 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845727] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.*238T>C single nucleotide variant Joubert syndrome 4 [RCV001134189]|Nephronophthisis 1 [RCV001134187]|Senior-Loken syndrome 1 [RCV001134188] Chr2:110123553 [GRCh38]
Chr2:110881130 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1528A>T (p.Ser510Cys) single nucleotide variant Nephronophthisis [RCV001212830] Chr2:110143543 [GRCh38]
Chr2:110901120 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.771+78G>A single nucleotide variant not provided [RCV000875747] Chr2:110164610 [GRCh38]
Chr2:110922187 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=) single nucleotide variant Nephronophthisis [RCV000873989] Chr2:110165090 [GRCh38]
Chr2:110922667 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.1166G>C (p.Arg389Pro) single nucleotide variant Nephronophthisis [RCV001243211] Chr2:110148019 [GRCh38]
Chr2:110905596 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) single nucleotide variant Nephronophthisis [RCV001243427] Chr2:110123807 [GRCh38]
Chr2:110881384 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1186G>C (p.Asp396His) single nucleotide variant Nephronophthisis [RCV001243625] Chr2:110147999 [GRCh38]
Chr2:110905576 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1049G>A (p.Arg350Lys) single nucleotide variant Nephronophthisis [RCV001243754] Chr2:110160161 [GRCh38]
Chr2:110917738 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) single nucleotide variant Joubert syndrome 4 [RCV001134330]|Nephronophthisis 1 [RCV001134331]|Senior-Loken syndrome 1 [RCV001134332] Chr2:110131787 [GRCh38]
Chr2:110889364 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_110091603)_(110161697_?)dup duplication Nephronophthisis [RCV001033031] Chr2:110849180..110919274 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.330-9T>G single nucleotide variant Nephronophthisis [RCV001227946] Chr2:110170007 [GRCh38]
Chr2:110927584 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.771+77_771+78del microsatellite Nephronophthisis [RCV001068170] Chr2:110164610..110164611 [GRCh38]
Chr2:110922187..110922188 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.1083+9A>G single nucleotide variant not provided [RCV000913984] Chr2:110160118 [GRCh38]
Chr2:110917695 [GRCh37]
Chr2:2q13
likely benign
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) single nucleotide variant Joubert syndrome 4 [RCV001128699]|Nephronophthisis 1 [RCV001128697]|Senior-Loken syndrome 1 [RCV001128698] Chr2:110124021 [GRCh38]
Chr2:110881598 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_110123791)_(110161697_?)dup duplication Nephronophthisis [RCV001033856] Chr2:110881368..110919274 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) single nucleotide variant Nephronophthisis [RCV001049045] Chr2:110169960 [GRCh38]
Chr2:110927537 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_110123791)_(110201494_?)dup duplication Nephronophthisis [RCV001033834] Chr2:110881368..110959071 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu) single nucleotide variant Nephronophthisis [RCV001045659] Chr2:110124051 [GRCh38]
Chr2:110881628 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1716+15T>C single nucleotide variant Joubert syndrome 4 [RCV001131332]|Nephronophthisis 1 [RCV001131331]|Senior-Loken syndrome 1 [RCV001134326] Chr2:110129171 [GRCh38]
Chr2:110886748 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) single nucleotide variant Nephronophthisis [RCV001234710] Chr2:110125673 [GRCh38]
Chr2:110883250 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.954+5G>T single nucleotide variant Nephronophthisis [RCV001201565] Chr2:110161598 [GRCh38]
Chr2:110919175 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.562G>A (p.Gly188Ser) single nucleotide variant Nephronophthisis [RCV001053177] Chr2:110168514 [GRCh38]
Chr2:110926091 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.110123331A>T single nucleotide variant Joubert syndrome 4 [RCV001131223]|Nephronophthisis 1 [RCV001131225]|Senior-Loken syndrome 1 [RCV001131224] Chr2:110123331 [GRCh38]
Chr2:110880908 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.771+169G>T single nucleotide variant Nephronophthisis [RCV001203841] Chr2:110164519 [GRCh38]
Chr2:110922096 [GRCh37]
Chr2:2q13
likely pathogenic
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) single nucleotide variant Nephronophthisis [RCV001232297] Chr2:110168472 [GRCh38]
Chr2:110926049 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala) single nucleotide variant Nephronophthisis [RCV001213305] Chr2:110129209 [GRCh38]
Chr2:110886786 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) deletion Nephronophthisis [RCV001059300] Chr2:110123848 [GRCh38]
Chr2:110881425 [GRCh37]
Chr2:2q13
pathogenic
NM_001128178.3(NPHP1):c.1265G>T (p.Arg422Leu) single nucleotide variant Nephronophthisis [RCV001228703] Chr2:110147920 [GRCh38]
Chr2:110905497 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) single nucleotide variant Joubert syndrome 4 [RCV001134329]|Nephronophthisis 1 [RCV001134327]|Senior-Loken syndrome 1 [RCV001134328] Chr2:110129209 [GRCh38]
Chr2:110886786 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) single nucleotide variant Nephronophthisis [RCV001059818] Chr2:110123939 [GRCh38]
Chr2:110881516 [GRCh37]
Chr2:2q13
likely pathogenic
NM_001128178.3(NPHP1):c.1807G>T (p.Asp603Tyr) single nucleotide variant Nephronophthisis [RCV001051559] Chr2:110124018 [GRCh38]
Chr2:110881595 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) single nucleotide variant Joubert syndrome 4 [RCV001129033]|Nephronophthisis 1 [RCV001129034]|Nephronophthisis [RCV001217848]|Senior-Loken syndrome 1 [RCV001129032] Chr2:110201427 [GRCh38]
Chr2:110959004 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.*194T>C single nucleotide variant Joubert syndrome 4 [RCV001135697]|Nephronophthisis 1 [RCV001135695]|Senior-Loken syndrome 1 [RCV001135696] Chr2:110123597 [GRCh38]
Chr2:110881174 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1211_1213del (p.Asn404_Ser405delinsThr) deletion Nephronophthisis [RCV001052036] Chr2:110147972..110147974 [GRCh38]
Chr2:110905549..110905551 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.771+178C>T single nucleotide variant Joubert syndrome 4 [RCV001134451]|Nephronophthisis 1 [RCV001134449]|Senior-Loken syndrome 1 [RCV001134450] Chr2:110164510 [GRCh38]
Chr2:110922087 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly) single nucleotide variant Nephronophthisis [RCV001042883] Chr2:110148020 [GRCh38]
Chr2:110905597 [GRCh37]
Chr2:2q13
uncertain significance
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) single nucleotide variant Nephronophthisis [RCV001039504] Chr2:110165137 [GRCh38]
Chr2:110922714 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) single nucleotide variant Joubert syndrome 4 [RCV001262795] Chr2:110178529 [GRCh38]
Chr2:110936106 [GRCh37]
Chr2:2q13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7905 AgrOrtholog
COSMIC NPHP1 COSMIC
Ensembl Genes ENSG00000144061 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000313169 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000347452 UniProtKB/Swiss-Prot
  ENSP00000376953 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389879 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392562 UniProtKB/TrEMBL
  ENSP00000402176 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000406453 UniProtKB/TrEMBL
  ENSP00000412351 UniProtKB/TrEMBL
  ENSP00000502265 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502475 ENTREZGENE
  ENSP00000502528 UniProtKB/TrEMBL
  ENSP00000502639 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502817 UniProtKB/TrEMBL
Ensembl Transcript ENST00000316534 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355301 UniProtKB/Swiss-Prot
  ENST00000393272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417665 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000418527 UniProtKB/TrEMBL
  ENST00000422492 UniProtKB/TrEMBL
  ENST00000445609 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449600 UniProtKB/TrEMBL
  ENST00000674677 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675067 UniProtKB/TrEMBL
  ENST00000676028 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000676053 ENTREZGENE
  ENST00000676091 UniProtKB/TrEMBL
GTEx ENSG00000144061 GTEx
HGNC ID HGNC:7905 ENTREZGENE
Human Proteome Map NPHP1 Human Proteome Map
InterPro NPHP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPHP1_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4867 UniProtKB/Swiss-Prot
NCBI Gene 4867 ENTREZGENE
OMIM 256100 OMIM
  266900 OMIM
  607100 OMIM
  609583 OMIM
PANTHER PTHR15176:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31706 PharmGKB
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.280388 ENTREZGENE
UniProt A0A6Q8PGI7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH10_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHD4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHS3_HUMAN UniProtKB/TrEMBL
  C9J082_HUMAN UniProtKB/TrEMBL
  C9JNM7 ENTREZGENE, UniProtKB/TrEMBL
  H7C014_HUMAN UniProtKB/TrEMBL
  H7C2K4_HUMAN UniProtKB/TrEMBL
  NPHP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O14837 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 NPHP1  nephrocystin 1    nephronophthisis 1 (juvenile)  Symbol and/or name change 5135510 APPROVED
2011-08-16 NPHP1  nephronophthisis 1 (juvenile)  NPHP1  nephronophthisis 1 (juvenile)  Symbol and/or name change 5135510 APPROVED