ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6) - Rat Genome Database

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Gene: ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6) Homo sapiens
Analyze
Symbol: ANKS6
Name: ankyrin repeat and sterile alpha motif domain containing 6
RGD ID: 1319654
HGNC Page HGNC:26724
Description: Predicted to be involved in innate immune response. Predicted to act upstream of or within several processes, including determination of left/right symmetry; heart development; and in utero embryonic development. Predicted to be located in ciliary inversin compartment and nucleus. Predicted to be active in cytoplasm. Implicated in nephronophthisis 16.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANKRD14; ankyrin repeat and SAM domain-containing protein 6; ankyrin repeat domain 14; ankyrin repeat domain-containing protein 14; DKFZp686D24121; DKFZp781I0117; MGC70366; NPHP16; PKDR1; SAM domain-containing protein 6; samCystin; SAMD6; sterile alpha motif domain containing 6; sterile alpha motif domain-containing protein 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38998,732,009 - 98,796,555 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl998,731,329 - 98,796,965 (-)EnsemblGRCh38hg38GRCh38
GRCh379101,494,291 - 101,558,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369100,534,112 - 100,598,615 (-)NCBINCBI36Build 36hg18NCBI36
Build 34998,573,856 - 98,638,050NCBI
Celera972,008,186 - 72,066,777 (-)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef971,093,661 - 71,157,912 (-)NCBIHuRef
CHM1_19101,640,709 - 101,705,196 (-)NCBICHM1_1
T2T-CHM13v2.09110,903,669 - 110,968,205 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. Brown JH, etal., J Am Soc Nephrol. 2005 Dec;16(12):3517-26. Epub 2005 Oct 5.
2. Transgenic overexpression of Anks6(p.R823W) causes polycystic kidney disease in rats. Neudecker S, etal., Am J Pathol. 2010 Dec;177(6):3000-9. doi: 10.2353/ajpath.2010.100569.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease. Schafer K, etal., Kidney Int 1994 Jul;46(1):134-52.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15164053   PMID:15489334   PMID:18029348   PMID:18434273   PMID:18978678   PMID:20301743   PMID:21244100   PMID:21832049   PMID:21873635   PMID:23793029  
PMID:24610927   PMID:24998259   PMID:25599650   PMID:26039630   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000   PMID:27173435   PMID:27336129   PMID:29117863   PMID:30639242  
PMID:32296183   PMID:32513696   PMID:32707033   PMID:32807901   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34432599   PMID:34740236   PMID:35271311   PMID:35384245   PMID:35748872  
PMID:35844135   PMID:37499664  


Genomics

Comparative Map Data
ANKS6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38998,732,009 - 98,796,555 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl998,731,329 - 98,796,965 (-)EnsemblGRCh38hg38GRCh38
GRCh379101,494,291 - 101,558,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369100,534,112 - 100,598,615 (-)NCBINCBI36Build 36hg18NCBI36
Build 34998,573,856 - 98,638,050NCBI
Celera972,008,186 - 72,066,777 (-)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef971,093,661 - 71,157,912 (-)NCBIHuRef
CHM1_19101,640,709 - 101,705,196 (-)NCBICHM1_1
T2T-CHM13v2.09110,903,669 - 110,968,205 (-)NCBIT2T-CHM13v2.0
Anks6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39447,015,365 - 47,057,339 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl447,015,669 - 47,057,427 (-)EnsemblGRCm39 Ensembl
GRCm38447,015,365 - 47,057,327 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl447,015,669 - 47,057,427 (-)EnsemblGRCm38mm10GRCm38
MGSCv37447,028,561 - 47,070,178 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36447,036,789 - 47,078,406 (-)NCBIMGSCv36mm8
MGSCv36445,863,232 - 45,905,550 (-)NCBIMGSCv36mm8
Celera447,027,647 - 47,069,458 (-)NCBICelera
Cytogenetic Map4B1NCBI
cM Map425.88NCBI
Anks6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8566,104,770 - 66,146,186 (-)NCBIGRCr8
mRatBN7.2561,309,183 - 61,350,596 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl561,309,183 - 61,350,596 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx563,280,885 - 63,322,477 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0565,100,188 - 65,141,780 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0565,069,677 - 65,111,269 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0562,642,974 - 62,684,387 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl562,640,645 - 62,683,964 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0567,163,440 - 67,204,853 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4563,633,540 - 63,674,953 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1563,632,332 - 63,674,981 (-)NCBI
Celera559,865,938 - 59,907,349 (-)NCBICelera
Cytogenetic Map5q22NCBI
Anks6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541926,801,925 - 26,851,627 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541926,801,924 - 26,852,116 (+)NCBIChiLan1.0ChiLan1.0
ANKS6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21140,660,886 - 40,725,561 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1940,663,262 - 40,734,626 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0969,818,669 - 69,886,618 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1997,941,270 - 98,002,933 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl997,941,935 - 98,005,795 (-)Ensemblpanpan1.1panPan2
ANKS6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11155,845,695 - 55,893,253 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1155,847,808 - 55,893,257 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1154,278,371 - 54,325,978 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01156,955,274 - 57,003,309 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1156,957,377 - 57,003,582 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11155,459,214 - 55,507,459 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01155,483,554 - 55,531,201 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01156,180,571 - 56,231,006 (-)NCBIUU_Cfam_GSD_1.0
Anks6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947170,772,429 - 170,816,534 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365247,320,497 - 7,357,350 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365247,320,069 - 7,379,417 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKS6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1240,522,837 - 240,584,496 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11240,522,835 - 240,584,354 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21268,768,030 - 268,829,559 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANKS6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11240,631,235 - 40,695,920 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1240,631,467 - 40,697,393 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603837,666,107 - 37,730,231 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Anks6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248252,157,158 - 2,212,971 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248252,157,158 - 2,214,115 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKS6
334 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173551.5(ANKS6):c.1902G>A (p.Ser634=) single nucleotide variant Nephronophthisis 16 [RCV000542945] Chr9:98770966 [GRCh38]
Chr9:101533248 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) deletion Nephronophthisis 16 [RCV001536028]|not provided [RCV000722918] Chr9:98796335..98796362 [GRCh38]
Chr9:101558617..101558644 [GRCh37]
Chr9:9q22.33
pathogenic|uncertain significance
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) single nucleotide variant Nephronophthisis 16 [RCV000530348]|not provided [RCV001580518] Chr9:98773916 [GRCh38]
Chr9:101536198 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) single nucleotide variant Nephronophthisis 16 [RCV000545632] Chr9:98796254 [GRCh38]
Chr9:101558536 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) single nucleotide variant ANKS6-related disorder [RCV003925693]|Inborn genetic diseases [RCV002526699]|Nephronophthisis 16 [RCV000551531]|not provided [RCV003480687] Chr9:98790434 [GRCh38]
Chr9:101552716 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=) single nucleotide variant Nephronophthisis 16 [RCV000542149] Chr9:98773967 [GRCh38]
Chr9:101536249 [GRCh37]
Chr9:9q22.33
likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) single nucleotide variant Nephronophthisis 16 [RCV000054548] Chr9:98780235 [GRCh38]
Chr9:101542517 [GRCh37]
Chr9:9q22.33
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_173551.5(ANKS6):c.1973-3C>G single nucleotide variant Nephronophthisis 16 [RCV000054549]|not provided [RCV000578679] Chr9:98768253 [GRCh38]
Chr9:101530535 [GRCh37]
Chr9:9q22.33
pathogenic|likely pathogenic
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) deletion Nephronophthisis 16 [RCV000054550] Chr9:98768159..98768169 [GRCh38]
Chr9:101530441..101530451 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) deletion Nephronophthisis 16 [RCV000054551] Chr9:98751051..98751053 [GRCh38]
Chr9:101513333..101513335 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.2512-2A>C single nucleotide variant Nephronophthisis 16 [RCV000054552] Chr9:98736625 [GRCh38]
Chr9:101498907 [GRCh37]
Chr9:9q22.33
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2
pathogenic
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1
pathogenic
NM_173551.5(ANKS6):c.360-67A>G single nucleotide variant Nephronophthisis 16 [RCV001554156]|not provided [RCV001615319] Chr9:98790673 [GRCh38]
Chr9:101552955 [GRCh37]
Chr9:9q22.33
benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) single nucleotide variant Nephronophthisis 16 [RCV000525006]|not specified [RCV000243533] Chr9:98778260 [GRCh38]
Chr9:101540542 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=) single nucleotide variant Nephronophthisis 16 [RCV000951817]|not provided [RCV003422184]|not specified [RCV000251325] Chr9:98778335 [GRCh38]
Chr9:101540617 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.664C>T (p.Arg222Trp) single nucleotide variant Nephronophthisis 16 [RCV000551182]|not provided [RCV001558261]|not specified [RCV000241570] Chr9:98790302 [GRCh38]
Chr9:101552584 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1369-13G>A single nucleotide variant Nephronophthisis 16 [RCV002518663]|not specified [RCV000246545] Chr9:98778437 [GRCh38]
Chr9:101540719 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.908-16C>T single nucleotide variant Nephronophthisis 16 [RCV002500936]|not specified [RCV000251497] Chr9:98784173 [GRCh38]
Chr9:101546455 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.862+20G>A single nucleotide variant Nephronophthisis 16 [RCV002058440]|not specified [RCV000246755] Chr9:98790084 [GRCh38]
Chr9:101552366 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.2271C>T (p.Ser757=) single nucleotide variant Nephronophthisis 16 [RCV002518664]|not specified [RCV000249211] Chr9:98756475 [GRCh38]
Chr9:101518757 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2613G>A (p.Ala871=) single nucleotide variant Nephronophthisis 16 [RCV000945896]|not specified [RCV000253992] Chr9:98736522 [GRCh38]
Chr9:101498804 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1767G>A (p.Ala589=) single nucleotide variant Nephronophthisis 16 [RCV000554177]|not provided [RCV001589293]|not specified [RCV000244443] Chr9:98773931 [GRCh38]
Chr9:101536213 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1112+18G>A single nucleotide variant Nephronophthisis 16 [RCV002058439]|not specified [RCV000246842] Chr9:98783935 [GRCh38]
Chr9:101546217 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.*17C>A single nucleotide variant not specified [RCV000242067] Chr9:98736502 [GRCh38]
Chr9:101498784 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1219+18A>T single nucleotide variant Nephronophthisis 16 [RCV002500935]|not specified [RCV000242144] Chr9:98782449 [GRCh38]
Chr9:101544731 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=) single nucleotide variant Nephronophthisis 16 [RCV001444855]|not specified [RCV000252008] Chr9:98782552 [GRCh38]
Chr9:101544834 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1930G>A (p.Val644Ile) single nucleotide variant Nephronophthisis 16 [RCV001517761]|not provided [RCV001651282]|not specified [RCV000254393] Chr9:98770938 [GRCh38]
Chr9:101533220 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.585G>A (p.Leu195=) single nucleotide variant Nephronophthisis 16 [RCV000557835]|not provided [RCV001550983]|not specified [RCV000242313] Chr9:98790381 [GRCh38]
Chr9:101552663 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) single nucleotide variant Nephronophthisis 16 [RCV000877890]|not specified [RCV000249609] Chr9:98771014 [GRCh38]
Chr9:101533296 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) single nucleotide variant Nephronophthisis 16 [RCV000878578]|not provided [RCV001660373]|not specified [RCV000249850] Chr9:98790351 [GRCh38]
Chr9:101552633 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) single nucleotide variant Nephronophthisis 16 [RCV000651691]|not specified [RCV000250147] Chr9:98790429 [GRCh38]
Chr9:101552711 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1740C>T (p.Asn580=) single nucleotide variant Nephronophthisis 16 [RCV000951505]|not provided [RCV003430810]|not specified [RCV000252650] Chr9:98773958 [GRCh38]
Chr9:101536240 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn) single nucleotide variant Nephronophthisis 16 [RCV001080663]|not provided [RCV000767075]|not specified [RCV000242876] Chr9:98784128 [GRCh38]
Chr9:101546410 [GRCh37]
Chr9:9q22.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173551.5(ANKS6):c.330C>T (p.Tyr110=) single nucleotide variant ANKS6-related disorder [RCV003891992]|Nephronophthisis 16 [RCV001511534]|not provided [RCV001618486] Chr9:98796162 [GRCh38]
Chr9:101558444 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.609C>T (p.His203=) single nucleotide variant Nephronophthisis 16 [RCV000959688]|not specified [RCV000245496] Chr9:98790357 [GRCh38]
Chr9:101552639 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala) single nucleotide variant Nephronophthisis 16 [RCV000544857]|not provided [RCV001567684]|not specified [RCV000245787] Chr9:98756543 [GRCh38]
Chr9:101518825 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.165C>T (p.Ala55=) single nucleotide variant ANKS6-related disorder [RCV003891991]|Nephronophthisis 16 [RCV001517762]|not provided [RCV001689945] Chr9:98796327 [GRCh38]
Chr9:101558609 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1301del (p.Leu434fs) deletion not provided [RCV000599137] Chr9:98780256 [GRCh38]
Chr9:101542538 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.1618-1G>C single nucleotide variant not provided [RCV000722566] Chr9:98774081 [GRCh38]
Chr9:101536363 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2310C>T (p.Gly770=) single nucleotide variant Nephronophthisis 16 [RCV000557397] Chr9:98756436 [GRCh38]
Chr9:101518718 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance
NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) single nucleotide variant Inborn genetic diseases [RCV003243195]|Nephronophthisis 16 [RCV000555499] Chr9:98770955 [GRCh38]
Chr9:101533237 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser) single nucleotide variant Nephronophthisis 16 [RCV001079474]|not provided [RCV000438519] Chr9:98736542 [GRCh38]
Chr9:101498824 [GRCh37]
Chr9:9q22.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala) single nucleotide variant Nephronophthisis 16 [RCV002502565]|not provided [RCV000429984] Chr9:98790559 [GRCh38]
Chr9:101552841 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) single nucleotide variant Nephronophthisis 16 [RCV000553411] Chr9:98782571 [GRCh38]
Chr9:101544853 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.134_151del (p.Ala45_Ala50del) deletion not provided [RCV000486694] Chr9:98796341..98796358 [GRCh38]
Chr9:101558623..101558640 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1 copy number loss See cases [RCV000510500] Chr9:100625192..102129138 [GRCh37]
Chr9:9q22.33
pathogenic
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 copy number gain See cases [RCV000510672] Chr9:97553176..102919383 [GRCh37]
Chr9:9q22.32-31.1
likely pathogenic
NM_173551.5(ANKS6):c.409G>A (p.Val137Ile) single nucleotide variant Inborn genetic diseases [RCV003284524] Chr9:98790557 [GRCh38]
Chr9:101552839 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.652A>C (p.Asn218His) single nucleotide variant Inborn genetic diseases [RCV003240878] Chr9:98790314 [GRCh38]
Chr9:101552596 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1077T>C (p.His359=) single nucleotide variant Nephronophthisis 16 [RCV001455513] Chr9:98783988 [GRCh38]
Chr9:101546270 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) single nucleotide variant Nephronophthisis 16 [RCV000651684] Chr9:98784058 [GRCh38]
Chr9:101546340 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) single nucleotide variant Nephronophthisis 16 [RCV000651685] Chr9:98782510 [GRCh38]
Chr9:101544792 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) single nucleotide variant Inborn genetic diseases [RCV004025838]|Nephronophthisis 16 [RCV000651686] Chr9:98756482 [GRCh38]
Chr9:101518764 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) single nucleotide variant Nephronophthisis 16 [RCV000651687] Chr9:98768171 [GRCh38]
Chr9:101530453 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1565A>G (p.Asn522Ser) single nucleotide variant ANKS6-related disorder [RCV003918065]|Nephronophthisis 16 [RCV000651688]|not provided [RCV003432701] Chr9:98778228 [GRCh38]
Chr9:101540510 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.603C>T (p.His201=) single nucleotide variant Nephronophthisis 16 [RCV000651689] Chr9:98790363 [GRCh38]
Chr9:101552645 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) single nucleotide variant ANKS6-related disorder [RCV003928121]|Nephronophthisis 16 [RCV000651690]|not provided [RCV001544795] Chr9:98784057 [GRCh38]
Chr9:101546339 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.193G>T (p.Val65Phe) single nucleotide variant ANKS6-related disorder [RCV003935514]|Inborn genetic diseases [RCV004024281]|Nephronophthisis 16 [RCV000532271] Chr9:98796299 [GRCh38]
Chr9:101558581 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance
NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) single nucleotide variant Nephronophthisis 16 [RCV000533584] Chr9:98751096 [GRCh38]
Chr9:101513378 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) single nucleotide variant Nephronophthisis 16 [RCV000534014]|not provided [RCV001644660] Chr9:98790308 [GRCh38]
Chr9:101552590 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) single nucleotide variant Nephronophthisis 16 [RCV000534355] Chr9:98790553 [GRCh38]
Chr9:101552835 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1526G>A (p.Arg509His) single nucleotide variant not provided [RCV003313668] Chr9:98778267 [GRCh38]
Chr9:101540549 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.446C>A (p.Thr149Asn) single nucleotide variant not provided [RCV003314935] Chr9:98790520 [GRCh38]
Chr9:101552802 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser) single nucleotide variant ANKS6-related disorder [RCV003945307]|Nephronophthisis 16 [RCV000558181]|not provided [RCV002263795] Chr9:98736571 [GRCh38]
Chr9:101498853 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) single nucleotide variant Nephronophthisis 16 [RCV000527309] Chr9:98790119 [GRCh38]
Chr9:101552401 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) single nucleotide variant Nephronophthisis 16 [RCV000686547] Chr9:98790160 [GRCh38]
Chr9:101552442 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) single nucleotide variant Inborn genetic diseases [RCV002533652]|Nephronophthisis 16 [RCV000702342]|not provided [RCV001759399] Chr9:98756549 [GRCh38]
Chr9:101518831 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) single nucleotide variant Nephronophthisis 16 [RCV000686369] Chr9:98768110 [GRCh38]
Chr9:101530392 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) single nucleotide variant Nephronophthisis 16 [RCV000702944] Chr9:98778412 [GRCh38]
Chr9:101540694 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) single nucleotide variant Nephronophthisis 16 [RCV000692814] Chr9:98790239 [GRCh38]
Chr9:101552521 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) single nucleotide variant Nephronophthisis 16 [RCV000687689] Chr9:98768118 [GRCh38]
Chr9:101530400 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) single nucleotide variant Nephronophthisis 16 [RCV000706913] Chr9:98756513 [GRCh38]
Chr9:101518795 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) duplication Nephronophthisis 16 [RCV000697052] Chr9:98790247..98790248 [GRCh38]
Chr9:101552529..101552530 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.2473C>T (p.Gln825Ter) single nucleotide variant not provided [RCV000722749] Chr9:98745597 [GRCh38]
Chr9:101507879 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.1220-261A>T single nucleotide variant not provided [RCV001537448] Chr9:98780598 [GRCh38]
Chr9:101542880 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.-4G>T single nucleotide variant not provided [RCV001678959] Chr9:98796495 [GRCh38]
Chr9:101558777 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1158C>A (p.Val386=) single nucleotide variant not provided [RCV000979331] Chr9:98782528 [GRCh38]
Chr9:101544810 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2395-7T>C single nucleotide variant Nephronophthisis 16 [RCV002479024]|not provided [RCV000896021] Chr9:98745682 [GRCh38]
Chr9:101507964 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.908-139C>G single nucleotide variant not provided [RCV001645270] Chr9:98784296 [GRCh38]
Chr9:101546578 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1112+68C>T single nucleotide variant not provided [RCV001583757] Chr9:98783885 [GRCh38]
Chr9:101546167 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1112+149del deletion not provided [RCV001666530] Chr9:98783804 [GRCh38]
Chr9:101546086 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1901C>T (p.Ser634Leu) single nucleotide variant Inborn genetic diseases [RCV003268423] Chr9:98770967 [GRCh38]
Chr9:101533249 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2326+25C>A single nucleotide variant not provided [RCV001691280] Chr9:98756395 [GRCh38]
Chr9:101518677 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2143-37G>T single nucleotide variant not provided [RCV001582226] Chr9:98756640 [GRCh38]
Chr9:101518922 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.538C>T (p.Leu180=) single nucleotide variant Nephronophthisis 16 [RCV000950339] Chr9:98790428 [GRCh38]
Chr9:101552710 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) single nucleotide variant Nephronophthisis 16 [RCV000945986] Chr9:98782561 [GRCh38]
Chr9:101544843 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.2433C>T (p.Asp811=) single nucleotide variant not provided [RCV000925818] Chr9:98745637 [GRCh38]
Chr9:101507919 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1611A>C (p.Thr537=) single nucleotide variant Nephronophthisis 16 [RCV000892193] Chr9:98777411 [GRCh38]
Chr9:101539693 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.281T>C (p.Val94Ala) single nucleotide variant ANKS6-related disorder [RCV003906109]|Inborn genetic diseases [RCV002549570]|Nephronophthisis 16 [RCV001395312]|not provided [RCV000981681] Chr9:98796211 [GRCh38]
Chr9:101558493 [GRCh37]
Chr9:9q22.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173551.5(ANKS6):c.2142+8T>C single nucleotide variant not provided [RCV000922362] Chr9:98768073 [GRCh38]
Chr9:101530355 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.863-32G>A single nucleotide variant not provided [RCV001581702] Chr9:98784908 [GRCh38]
Chr9:101547190 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) single nucleotide variant Nephronophthisis 16 [RCV001063712] Chr9:98773977 [GRCh38]
Chr9:101536259 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1828G>A (p.Val610Ile) single nucleotide variant Nephronophthisis 16 [RCV000910244] Chr9:98771040 [GRCh38]
Chr9:101533322 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser) single nucleotide variant Nephronophthisis 16 [RCV000878305]|not provided [RCV001759661] Chr9:98778268 [GRCh38]
Chr9:101540550 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance
NM_173551.5(ANKS6):c.2502C>T (p.Asn834=) single nucleotide variant Nephronophthisis 16 [RCV003581748] Chr9:98745568 [GRCh38]
Chr9:101507850 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1772C>G (p.Pro591Arg) single nucleotide variant Nephronophthisis 16 [RCV000945942] Chr9:98773926 [GRCh38]
Chr9:101536208 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.583C>T (p.Leu195=) single nucleotide variant Nephronophthisis 16 [RCV000900450] Chr9:98790383 [GRCh38]
Chr9:101552665 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1266T>C (p.Asn422=) single nucleotide variant Nephronophthisis 16 [RCV001480049] Chr9:98780291 [GRCh38]
Chr9:101542573 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1185G>A (p.Thr395=) single nucleotide variant Nephronophthisis 16 [RCV002507572] Chr9:98782501 [GRCh38]
Chr9:101544783 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1680A>G (p.Pro560=) single nucleotide variant Nephronophthisis 16 [RCV000953999] Chr9:98774018 [GRCh38]
Chr9:101536300 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1947C>T (p.His649=) single nucleotide variant Nephronophthisis 16 [RCV001457785] Chr9:98770921 [GRCh38]
Chr9:101533203 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2265G>C (p.Ser755=) single nucleotide variant Nephronophthisis 16 [RCV000920186] Chr9:98756481 [GRCh38]
Chr9:101518763 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) single nucleotide variant Nephronophthisis 16 [RCV000791539]|not provided [RCV001796217] Chr9:98756479 [GRCh38]
Chr9:101518761 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1220-6C>T single nucleotide variant Nephronophthisis 16 [RCV000795125] Chr9:98780343 [GRCh38]
Chr9:101542625 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) single nucleotide variant Nephronophthisis 16 [RCV000815872]|not provided [RCV002284441] Chr9:98790542 [GRCh38]
Chr9:101552824 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) single nucleotide variant Nephronophthisis 16 [RCV000795037] Chr9:98790302 [GRCh38]
Chr9:101552584 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) single nucleotide variant Nephronophthisis 16 [RCV000793751] Chr9:98745567 [GRCh38]
Chr9:101507849 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1773C>G (p.Pro591=) single nucleotide variant not provided [RCV000919783] Chr9:98773925 [GRCh38]
Chr9:101536207 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) deletion Nephronophthisis 16 [RCV000818335] Chr9:98790426..98790427 [GRCh38]
Chr9:101552708..101552709 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.1491C>T (p.Ser497=) single nucleotide variant not provided [RCV000976399] Chr9:98778302 [GRCh38]
Chr9:101540584 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1917C>T (p.Gly639=) single nucleotide variant Nephronophthisis 16 [RCV002065924] Chr9:98770951 [GRCh38]
Chr9:101533233 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2094G>A (p.Pro698=) single nucleotide variant ANKS6-related disorder [RCV003940736]|Nephronophthisis 16 [RCV000893293] Chr9:98768129 [GRCh38]
Chr9:101530411 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) single nucleotide variant Nephronophthisis 16 [RCV001058914] Chr9:98790509 [GRCh38]
Chr9:101552791 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln) single nucleotide variant ANKS6-related disorder [RCV003935920]|Nephronophthisis 16 [RCV000959687] Chr9:98790194 [GRCh38]
Chr9:101552476 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser) single nucleotide variant Nephronophthisis 16 [RCV001204685] Chr9:98782544 [GRCh38]
Chr9:101544826 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1568-170T>C single nucleotide variant not provided [RCV001568307] Chr9:98777624 [GRCh38]
Chr9:101539906 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.862+290C>T single nucleotide variant not provided [RCV001642005] Chr9:98789814 [GRCh38]
Chr9:101552096 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2327-105T>C single nucleotide variant not provided [RCV001550530] Chr9:98751201 [GRCh38]
Chr9:101513483 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.*262A>T single nucleotide variant not provided [RCV001550838] Chr9:98736257 [GRCh38]
Chr9:101498539 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1821+85G>A single nucleotide variant not provided [RCV001555687] Chr9:98773792 [GRCh38]
Chr9:101536074 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1822-215A>G single nucleotide variant not provided [RCV001671863] Chr9:98771261 [GRCh38]
Chr9:101533543 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2143-235T>C single nucleotide variant not provided [RCV001535014] Chr9:98756838 [GRCh38]
Chr9:101519120 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.862+133A>T single nucleotide variant not provided [RCV001589378] Chr9:98789971 [GRCh38]
Chr9:101552253 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1568-129C>G single nucleotide variant not provided [RCV001657588] Chr9:98777583 [GRCh38]
Chr9:101539865 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2327-19del deletion Nephronophthisis 16 [RCV002072058]|not provided [RCV001552815] Chr9:98751115 [GRCh38]
Chr9:101513397 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) single nucleotide variant Nephronophthisis 16 [RCV000955081] Chr9:98784090 [GRCh38]
Chr9:101546372 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.907+8C>G single nucleotide variant Nephronophthisis 16 [RCV002505357]|not provided [RCV000917292] Chr9:98784824 [GRCh38]
Chr9:101547106 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1641C>A (p.Thr547=) single nucleotide variant Nephronophthisis 16 [RCV000955124] Chr9:98774057 [GRCh38]
Chr9:101536339 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1200G>A (p.Val400=) single nucleotide variant Nephronophthisis 16 [RCV003581755] Chr9:98782486 [GRCh38]
Chr9:101544768 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2487G>A (p.Ala829=) single nucleotide variant Nephronophthisis 16 [RCV002489443]|not provided [RCV000980269] Chr9:98745583 [GRCh38]
Chr9:101507865 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1468G>A (p.Glu490Lys) single nucleotide variant Nephronophthisis 16 [RCV001523584] Chr9:98778325 [GRCh38]
Chr9:101540607 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1989T>C (p.Asn663=) single nucleotide variant Nephronophthisis 16 [RCV002505415]|not provided [RCV000951761] Chr9:98768234 [GRCh38]
Chr9:101530516 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.498C>T (p.Ala166=) single nucleotide variant ANKS6-related disorder [RCV003960527]|Nephronophthisis 16 [RCV002488017] Chr9:98790468 [GRCh38]
Chr9:101552750 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr) single nucleotide variant Nephronophthisis 16 [RCV000946017]|not provided [RCV003326521] Chr9:98774008 [GRCh38]
Chr9:101536290 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.907+6C>T single nucleotide variant Nephronophthisis 16 [RCV001205964] Chr9:98784826 [GRCh38]
Chr9:101547108 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2265G>A (p.Ser755=) single nucleotide variant Nephronophthisis 16 [RCV002495855]|not provided [RCV001529707] Chr9:98756481 [GRCh38]
Chr9:101518763 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser) single nucleotide variant Nephronophthisis 16 [RCV001244054]|not provided [RCV003314682] Chr9:98783966 [GRCh38]
Chr9:101546248 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.969T>C (p.Asn323=) single nucleotide variant not provided [RCV000912361] Chr9:98784096 [GRCh38]
Chr9:101546378 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1428C>A (p.Pro476=) single nucleotide variant Nephronophthisis 16 [RCV002540093] Chr9:98778365 [GRCh38]
Chr9:101540647 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2511+252C>T single nucleotide variant not provided [RCV001559947] Chr9:98745307 [GRCh38]
Chr9:101507589 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1973-260C>T single nucleotide variant not provided [RCV001576972] Chr9:98768510 [GRCh38]
Chr9:101530792 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1617+38C>T single nucleotide variant not provided [RCV001537333] Chr9:98777367 [GRCh38]
Chr9:101539649 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2327-254CT[2] microsatellite not provided [RCV001608665] Chr9:98751345..98751346 [GRCh38]
Chr9:101513627..101513628 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1822-197T>C single nucleotide variant not provided [RCV001674635] Chr9:98771243 [GRCh38]
Chr9:101533525 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.*40C>T single nucleotide variant not provided [RCV001608358] Chr9:98736479 [GRCh38]
Chr9:101498761 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2420dup (p.Thr808fs) duplication Nephronophthisis 16 [RCV001530175] Chr9:98745649..98745650 [GRCh38]
Chr9:101507931..101507932 [GRCh37]
Chr9:9q22.33
likely pathogenic
GRCh37/hg19 9q22.33(chr9:100953443-102003384)x3 copy number gain not provided [RCV001006249] Chr9:100953443..102003384 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.863-253A>G single nucleotide variant not provided [RCV001677958] Chr9:98785129 [GRCh38]
Chr9:101547411 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.908-284_908-282del deletion not provided [RCV001673886] Chr9:98784439..98784441 [GRCh38]
Chr9:101546721..101546723 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.850A>G (p.Arg284Gly) single nucleotide variant Nephronophthisis 16 [RCV001246281] Chr9:98790116 [GRCh38]
Chr9:101552398 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.*192A>G single nucleotide variant not provided [RCV001652599] Chr9:98736327 [GRCh38]
Chr9:101498609 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.*237G>C single nucleotide variant not provided [RCV001690978] Chr9:98736282 [GRCh38]
Chr9:101498564 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2326+260G>A single nucleotide variant not provided [RCV001652735] Chr9:98756160 [GRCh38]
Chr9:101518442 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.359+179A>G single nucleotide variant not provided [RCV001649882] Chr9:98795954 [GRCh38]
Chr9:101558236 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.-1G>A single nucleotide variant not provided [RCV001612317] Chr9:98796492 [GRCh38]
Chr9:101558774 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1220-261A>G single nucleotide variant not provided [RCV001691739] Chr9:98780598 [GRCh38]
Chr9:101542880 [GRCh37]
Chr9:9q22.33
benign
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2
pathogenic
NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg) single nucleotide variant Nephronophthisis 16 [RCV001207945]|not provided [RCV002307699] Chr9:98796283 [GRCh38]
Chr9:101558565 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu) single nucleotide variant Nephronophthisis 16 [RCV001218074] Chr9:98780247 [GRCh38]
Chr9:101542529 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) single nucleotide variant Nephronophthisis 16 [RCV001045632] Chr9:98778372 [GRCh38]
Chr9:101540654 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser) single nucleotide variant Nephronophthisis 16 [RCV001236519] Chr9:98770920 [GRCh38]
Chr9:101533202 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln) single nucleotide variant Inborn genetic diseases [RCV002563861]|Nephronophthisis 16 [RCV001236520] Chr9:98796485 [GRCh38]
Chr9:101558767 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala) single nucleotide variant Nephronophthisis 16 [RCV001232797] Chr9:98778286 [GRCh38]
Chr9:101540568 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) single nucleotide variant Nephronophthisis 16 [RCV001063190] Chr9:98778402 [GRCh38]
Chr9:101540684 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro) single nucleotide variant Inborn genetic diseases [RCV002563776]|Nephronophthisis 16 [RCV001232214] Chr9:98778265 [GRCh38]
Chr9:101540547 [GRCh37]
Chr9:9q22.33
uncertain significance
NC_000009.12:g.(?_97428446)_(98796511_?)dup duplication Epileptic encephalopathy [RCV001033232] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1617+86C>T single nucleotide variant Nephronophthisis 16 [RCV001554155]|not provided [RCV001655890] Chr9:98777319 [GRCh38]
Chr9:101539601 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro) single nucleotide variant Nephronophthisis 16 [RCV001290404] Chr9:98784131 [GRCh38]
Chr9:101546413 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro) single nucleotide variant Inborn genetic diseases [RCV003169559]|Nephronophthisis 16 [RCV001333626] Chr9:98796302 [GRCh38]
Chr9:101558584 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala) single nucleotide variant Nephronophthisis 16 [RCV001290405] Chr9:98784127 [GRCh38]
Chr9:101546409 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_173551.5(ANKS6):c.565C>G (p.Pro189Ala) single nucleotide variant Nephronophthisis 16 [RCV001327106] Chr9:98790401 [GRCh38]
Chr9:101552683 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser) single nucleotide variant Inborn genetic diseases [RCV002545116]|Nephronophthisis 16 [RCV001322813] Chr9:98796473 [GRCh38]
Chr9:101558755 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.968A>G (p.Asn323Ser) single nucleotide variant Nephronophthisis 16 [RCV001333627]|not provided [RCV001751653] Chr9:98784097 [GRCh38]
Chr9:101546379 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu) single nucleotide variant Nephronophthisis 16 [RCV001345254] Chr9:98784150 [GRCh38]
Chr9:101546432 [GRCh37]
Chr9:9q22.33
uncertain significance
NC_000009.11:g.(?_100190728)_(101558793_?)dup duplication Epileptic encephalopathy [RCV001308947] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp) single nucleotide variant Nephronophthisis 16 [RCV001309104] Chr9:98770926 [GRCh38]
Chr9:101533208 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.907+2T>A single nucleotide variant Nephronophthisis 16 [RCV001333047] Chr9:98784830 [GRCh38]
Chr9:101547112 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.131A>C (p.Glu44Ala) single nucleotide variant Nephronophthisis 16 [RCV001326117] Chr9:98796361 [GRCh38]
Chr9:101558643 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1803C>T (p.Gly601=) single nucleotide variant Nephronophthisis 16 [RCV001461308] Chr9:98773895 [GRCh38]
Chr9:101536177 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.984G>A (p.Thr328=) single nucleotide variant Nephronophthisis 16 [RCV001407770] Chr9:98784081 [GRCh38]
Chr9:101546363 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1220-213G>A single nucleotide variant not provided [RCV001534104] Chr9:98780550 [GRCh38]
Chr9:101542832 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.354G>A (p.Ala118=) single nucleotide variant Nephronophthisis 16 [RCV001429747] Chr9:98796138 [GRCh38]
Chr9:101558420 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1112+148_1112+149del deletion not provided [RCV001572359] Chr9:98783804..98783805 [GRCh38]
Chr9:101546086..101546087 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2343C>T (p.Ile781=) single nucleotide variant Nephronophthisis 16 [RCV001409091] Chr9:98751080 [GRCh38]
Chr9:101513362 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2394+247C>G single nucleotide variant not provided [RCV001688308] Chr9:98750782 [GRCh38]
Chr9:101513064 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1632T>A (p.Ala544=) single nucleotide variant Nephronophthisis 16 [RCV001458031] Chr9:98774066 [GRCh38]
Chr9:101536348 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.360-126C>A single nucleotide variant Nephronophthisis 16 [RCV001554157]|not provided [RCV001527760] Chr9:98790732 [GRCh38]
Chr9:101553014 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1973-1G>A single nucleotide variant Nephronophthisis 16 [RCV001530176] Chr9:98768251 [GRCh38]
Chr9:101530533 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_173551.5(ANKS6):c.1219+122T>C single nucleotide variant not provided [RCV001693700] Chr9:98782345 [GRCh38]
Chr9:101544627 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2409G>A (p.Ala803=) single nucleotide variant Nephronophthisis 16 [RCV001463493] Chr9:98745661 [GRCh38]
Chr9:101507943 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1822-94C>T single nucleotide variant not provided [RCV001587953] Chr9:98771140 [GRCh38]
Chr9:101533422 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.657C>T (p.His219=) single nucleotide variant Nephronophthisis 16 [RCV001435836] Chr9:98790309 [GRCh38]
Chr9:101552591 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1030C>T (p.Leu344=) single nucleotide variant Nephronophthisis 16 [RCV001487878] Chr9:98784035 [GRCh38]
Chr9:101546317 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1056T>C (p.Val352=) single nucleotide variant Nephronophthisis 16 [RCV001466372] Chr9:98784009 [GRCh38]
Chr9:101546291 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2327-189G>A single nucleotide variant not provided [RCV001732776] Chr9:98751285 [GRCh38]
Chr9:101513567 [GRCh37]
Chr9:9q22.33
likely benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
NM_173551.5(ANKS6):c.2_8dup (p.Glu3fs) duplication Nephronophthisis 16 [RCV001785938] Chr9:98796483..98796484 [GRCh38]
Chr9:101558765..101558766 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_173551.5(ANKS6):c.155C>T (p.Ala52Val) single nucleotide variant Nephronophthisis 16 [RCV002478014]|not provided [RCV001786058] Chr9:98796337 [GRCh38]
Chr9:101558619 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1822-1G>A single nucleotide variant Nephronophthisis 16 [RCV001783520] Chr9:98771047 [GRCh38]
Chr9:101533329 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.*199C>T single nucleotide variant not provided [RCV001797294] Chr9:98736320 [GRCh38]
Chr9:101498602 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1972+202_1972+203del microsatellite not provided [RCV001810366] Chr9:98770693..98770694 [GRCh38]
Chr9:101532975..101532976 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2498T>G (p.Leu833Arg) single nucleotide variant Nephronophthisis 16 [RCV002009191] Chr9:98745572 [GRCh38]
Chr9:101507854 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1883C>T (p.Ser628Phe) single nucleotide variant Nephronophthisis 16 [RCV001927110] Chr9:98770985 [GRCh38]
Chr9:101533267 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2287A>G (p.Ser763Gly) single nucleotide variant Nephronophthisis 16 [RCV002040064] Chr9:98756459 [GRCh38]
Chr9:101518741 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_173551.5(ANKS6):c.690G>A (p.Met230Ile) single nucleotide variant Nephronophthisis 16 [RCV002003679] Chr9:98790276 [GRCh38]
Chr9:101552558 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2
likely pathogenic
NM_173551.5(ANKS6):c.1011G>T (p.Gly337=) single nucleotide variant Nephronophthisis 16 [RCV001871448] Chr9:98784054 [GRCh38]
Chr9:101546336 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2511+3A>G single nucleotide variant Nephronophthisis 16 [RCV001890386] Chr9:98745556 [GRCh38]
Chr9:101507838 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.743G>T (p.Gly248Val) single nucleotide variant Nephronophthisis 16 [RCV001903486] Chr9:98790223 [GRCh38]
Chr9:101552505 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.95G>C (p.Gly32Ala) single nucleotide variant Nephronophthisis 16 [RCV001955379] Chr9:98796397 [GRCh38]
Chr9:101558679 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.362T>G (p.Phe121Cys) single nucleotide variant Nephronophthisis 16 [RCV001867263] Chr9:98790604 [GRCh38]
Chr9:101552886 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1385T>G (p.Met462Arg) single nucleotide variant Nephronophthisis 16 [RCV001919941] Chr9:98778408 [GRCh38]
Chr9:101540690 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2077_2078delinsTT (p.Ala693Leu) indel Nephronophthisis 16 [RCV002030846] Chr9:98768145..98768146 [GRCh38]
Chr9:101530427..101530428 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1430G>A (p.Arg477His) single nucleotide variant Inborn genetic diseases [RCV003164155]|Nephronophthisis 16 [RCV001905161] Chr9:98778363 [GRCh38]
Chr9:101540645 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2612C>T (p.Ala871Val) single nucleotide variant Nephronophthisis 16 [RCV001898368] Chr9:98736523 [GRCh38]
Chr9:101498805 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1117A>G (p.Lys373Glu) single nucleotide variant Nephronophthisis 16 [RCV001930395] Chr9:98782569 [GRCh38]
Chr9:101544851 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.643G>A (p.Ala215Thr) single nucleotide variant Inborn genetic diseases [RCV003167026]|Nephronophthisis 16 [RCV001920019] Chr9:98790323 [GRCh38]
Chr9:101552605 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1429C>A (p.Arg477Ser) single nucleotide variant Inborn genetic diseases [RCV002552900]|Nephronophthisis 16 [RCV001924844] Chr9:98778364 [GRCh38]
Chr9:101540646 [GRCh37]
Chr9:9q22.33
uncertain significance
NC_000009.11:g.(?_100190748)_(103062956_?)del deletion Nephronophthisis [RCV001959180] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1
pathogenic
NM_173551.5(ANKS6):c.1618-16A>G single nucleotide variant Nephronophthisis 16 [RCV002085293] Chr9:98774096 [GRCh38]
Chr9:101536378 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2615G>A (p.Ter872=) single nucleotide variant Nephronophthisis 16 [RCV002108510] Chr9:98736520 [GRCh38]
Chr9:101498802 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.21C>G (p.Pro7=) single nucleotide variant Nephronophthisis 16 [RCV002134933] Chr9:98796471 [GRCh38]
Chr9:101558753 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2142+14G>T single nucleotide variant Nephronophthisis 16 [RCV002152062] Chr9:98768067 [GRCh38]
Chr9:101530349 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2327-19dup duplication Nephronophthisis 16 [RCV002124982] Chr9:98751114..98751115 [GRCh38]
Chr9:101513396..101513397 [GRCh37]
Chr9:9q22.33
benign|likely benign
NM_173551.5(ANKS6):c.2143-15T>C single nucleotide variant Nephronophthisis 16 [RCV002108671] Chr9:98756618 [GRCh38]
Chr9:101518900 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1112+17C>T single nucleotide variant Nephronophthisis 16 [RCV002113939] Chr9:98783936 [GRCh38]
Chr9:101546218 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.282G>A (p.Val94=) single nucleotide variant Nephronophthisis 16 [RCV002096874] Chr9:98796210 [GRCh38]
Chr9:101558492 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1938G>C (p.Val646=) single nucleotide variant Nephronophthisis 16 [RCV002125836] Chr9:98770930 [GRCh38]
Chr9:101533212 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.549C>T (p.Gly183=) single nucleotide variant Nephronophthisis 16 [RCV002099148] Chr9:98790417 [GRCh38]
Chr9:101552699 [GRCh37]
Chr9:9q22.33
likely benign
NC_000009.11:g.(?_101470679)_(101611374_?)dup duplication Epileptic encephalopathy [RCV002081326]|not provided [RCV003120814] Chr9:101470679..101611374 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance|no classifications from unflagged records
NM_173551.5(ANKS6):c.1617+12G>A single nucleotide variant Nephronophthisis 16 [RCV002101627] Chr9:98777393 [GRCh38]
Chr9:101539675 [GRCh37]
Chr9:9q22.33
likely benign
NC_000009.11:g.(?_100190748)_(103062956_?)dup duplication ALG2-congenital disorder of glycosylation [RCV003113550]|Familial thoracic aortic aneurysm and aortic dissection [RCV003113551] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1
uncertain significance
NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys) single nucleotide variant Nephronophthisis 16 [RCV003140256]|not provided [RCV003129366] Chr9:98756476 [GRCh38]
Chr9:101518758 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs) duplication Nephronophthisis 16 [RCV002266121] Chr9:98774022..98774023 [GRCh38]
Chr9:101536304..101536305 [GRCh37]
Chr9:9q22.33
pathogenic
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1
pathogenic
NM_173551.5(ANKS6):c.1821+190G>A single nucleotide variant not provided [RCV002265073] Chr9:98773687 [GRCh38]
Chr9:101535969 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.904A>G (p.Met302Val) single nucleotide variant Inborn genetic diseases [RCV003101443]|Nephronophthisis 16 [RCV002502071]|not provided [RCV002260785] Chr9:98784835 [GRCh38]
Chr9:101547117 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2326+131T>C single nucleotide variant not provided [RCV002286065] Chr9:98756289 [GRCh38]
Chr9:101518571 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1219+21G>T single nucleotide variant not provided [RCV002265074] Chr9:98782446 [GRCh38]
Chr9:101544728 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.564G>C (p.Glu188Asp) single nucleotide variant not provided [RCV002274753] Chr9:98790402 [GRCh38]
Chr9:101552684 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2511+160del deletion not provided [RCV002265105] Chr9:98745399 [GRCh38]
Chr9:101507681 [GRCh37]
Chr9:9q22.33
likely benign
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
NM_173551.5(ANKS6):c.1568-40G>T single nucleotide variant not provided [RCV002285623] Chr9:98777494 [GRCh38]
Chr9:101539776 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1708T>G (p.Trp570Gly) single nucleotide variant not specified [RCV003151571] Chr9:98773990 [GRCh38]
Chr9:101536272 [GRCh37]
Chr9:9q22.33
uncertain significance
GRCh37/hg19 9q22.33(chr9:101179298-101680286)x3 copy number gain not provided [RCV002474792] Chr9:101179298..101680286 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.219C>G (p.Cys73Trp) single nucleotide variant Inborn genetic diseases [RCV003308469] Chr9:98796273 [GRCh38]
Chr9:101558555 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.23C>T (p.Pro8Leu) single nucleotide variant not provided [RCV002308855] Chr9:98796469 [GRCh38]
Chr9:101558751 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1827C>T (p.Pro609=) single nucleotide variant ANKS6-related disorder [RCV003973601]|Nephronophthisis 16 [RCV002967880] Chr9:98771041 [GRCh38]
Chr9:101533323 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1268A>G (p.Lys423Arg) single nucleotide variant Inborn genetic diseases [RCV002906578] Chr9:98780289 [GRCh38]
Chr9:101542571 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2214G>A (p.Thr738=) single nucleotide variant Nephronophthisis 16 [RCV002903075] Chr9:98756532 [GRCh38]
Chr9:101518814 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.279G>A (p.Leu93=) single nucleotide variant Nephronophthisis 16 [RCV003013778] Chr9:98796213 [GRCh38]
Chr9:101558495 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.425G>A (p.Arg142Gln) single nucleotide variant Inborn genetic diseases [RCV003012670] Chr9:98790541 [GRCh38]
Chr9:101552823 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2395-14C>T single nucleotide variant Nephronophthisis 16 [RCV002996646] Chr9:98745689 [GRCh38]
Chr9:101507971 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2142+10T>C single nucleotide variant Nephronophthisis 16 [RCV002908113] Chr9:98768071 [GRCh38]
Chr9:101530353 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.382C>A (p.His128Asn) single nucleotide variant Nephronophthisis 16 [RCV002908421] Chr9:98790584 [GRCh38]
Chr9:101552866 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.607C>T (p.His203Tyr) single nucleotide variant Nephronophthisis 16 [RCV002908138] Chr9:98790359 [GRCh38]
Chr9:101552641 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1300del (p.Leu434fs) deletion Nephronophthisis 16 [RCV002863844] Chr9:98780257 [GRCh38]
Chr9:101542539 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.1467C>T (p.Asp489=) single nucleotide variant Nephronophthisis 16 [RCV002685890] Chr9:98778326 [GRCh38]
Chr9:101540608 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1152C>T (p.Ala384=) single nucleotide variant Nephronophthisis 16 [RCV002616277] Chr9:98782534 [GRCh38]
Chr9:101544816 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter) single nucleotide variant Nephronophthisis 16 [RCV002615426] Chr9:98790327 [GRCh38]
Chr9:101552609 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.1112+16A>G single nucleotide variant Nephronophthisis 16 [RCV002908420] Chr9:98783937 [GRCh38]
Chr9:101546219 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.836C>T (p.Pro279Leu) single nucleotide variant Inborn genetic diseases [RCV002734144]|Nephronophthisis 16 [RCV003581888] Chr9:98790130 [GRCh38]
Chr9:101552412 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1732C>T (p.Arg578Cys) single nucleotide variant Inborn genetic diseases [RCV002901536] Chr9:98773966 [GRCh38]
Chr9:101536248 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1071C>T (p.Ser357=) single nucleotide variant Nephronophthisis 16 [RCV003076446] Chr9:98783994 [GRCh38]
Chr9:101546276 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2390A>G (p.Gln797Arg) single nucleotide variant Nephronophthisis 16 [RCV002838338] Chr9:98751033 [GRCh38]
Chr9:101513315 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1568-15C>T single nucleotide variant Nephronophthisis 16 [RCV002512443] Chr9:98777469 [GRCh38]
Chr9:101539751 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.684G>A (p.Pro228=) single nucleotide variant Nephronophthisis 16 [RCV003034237] Chr9:98790282 [GRCh38]
Chr9:101552564 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.750C>G (p.Asn250Lys) single nucleotide variant Nephronophthisis 16 [RCV003075763] Chr9:98790216 [GRCh38]
Chr9:101552498 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1536C>T (p.Leu512=) single nucleotide variant Nephronophthisis 16 [RCV002952577] Chr9:98778257 [GRCh38]
Chr9:101540539 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2225C>T (p.Ser742Leu) single nucleotide variant Inborn genetic diseases [RCV002871332]|Nephronophthisis 16 [RCV002871333]|not provided [RCV003434514] Chr9:98756521 [GRCh38]
Chr9:101518803 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.636G>T (p.Glu212Asp) single nucleotide variant Nephronophthisis 16 [RCV003019349] Chr9:98790330 [GRCh38]
Chr9:101552612 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg) single nucleotide variant Nephronophthisis 16 [RCV003019841] Chr9:98756589 [GRCh38]
Chr9:101518871 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1220-15C>G single nucleotide variant Nephronophthisis 16 [RCV002953722] Chr9:98780352 [GRCh38]
Chr9:101542634 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.696C>T (p.Ala232=) single nucleotide variant Nephronophthisis 16 [RCV003002794] Chr9:98790270 [GRCh38]
Chr9:101552552 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2168C>T (p.Pro723Leu) single nucleotide variant Inborn genetic diseases [RCV002849216] Chr9:98756578 [GRCh38]
Chr9:101518860 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.228G>A (p.Glu76=) single nucleotide variant Nephronophthisis 16 [RCV002622847] Chr9:98796264 [GRCh38]
Chr9:101558546 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1048G>A (p.Ala350Thr) single nucleotide variant Inborn genetic diseases [RCV002928817]|Nephronophthisis 16 [RCV002953431] Chr9:98784017 [GRCh38]
Chr9:101546299 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1746G>A (p.Lys582=) single nucleotide variant Nephronophthisis 16 [RCV002979117] Chr9:98773952 [GRCh38]
Chr9:101536234 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1219+18_1219+19del deletion Nephronophthisis 16 [RCV002637306] Chr9:98782448..98782449 [GRCh38]
Chr9:101544730..101544731 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.733G>T (p.Val245Leu) single nucleotide variant Nephronophthisis 16 [RCV002979260]|not provided [RCV003481357] Chr9:98790233 [GRCh38]
Chr9:101552515 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.568T>G (p.Leu190Val) single nucleotide variant Nephronophthisis 16 [RCV003018952] Chr9:98790398 [GRCh38]
Chr9:101552680 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1701T>C (p.Phe567=) single nucleotide variant Nephronophthisis 16 [RCV002736858] Chr9:98773997 [GRCh38]
Chr9:101536279 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2534A>C (p.Gln845Pro) single nucleotide variant Nephronophthisis 16 [RCV002797125] Chr9:98736601 [GRCh38]
Chr9:101498883 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.6C>T (p.Gly2=) single nucleotide variant Nephronophthisis 16 [RCV002639438] Chr9:98796486 [GRCh38]
Chr9:101558768 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2041C>G (p.Gln681Glu) single nucleotide variant Nephronophthisis 16 [RCV002658573] Chr9:98768182 [GRCh38]
Chr9:101530464 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2440del (p.Glu814fs) deletion Nephronophthisis 16 [RCV003053884] Chr9:98745630 [GRCh38]
Chr9:101507912 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.745G>A (p.Ala249Thr) single nucleotide variant Inborn genetic diseases [RCV002659846] Chr9:98790221 [GRCh38]
Chr9:101552503 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1544C>T (p.Ala515Val) single nucleotide variant Inborn genetic diseases [RCV002912002] Chr9:98778249 [GRCh38]
Chr9:101540531 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1348G>A (p.Asp450Asn) single nucleotide variant Nephronophthisis 16 [RCV002957799] Chr9:98780209 [GRCh38]
Chr9:101542491 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1820C>T (p.Thr607Ile) single nucleotide variant Inborn genetic diseases [RCV004066995]|Nephronophthisis 16 [RCV002919007] Chr9:98773878 [GRCh38]
Chr9:101536160 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1911A>G (p.Ser637=) single nucleotide variant Nephronophthisis 16 [RCV002740579] Chr9:98770957 [GRCh38]
Chr9:101533239 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2324A>T (p.Glu775Val) single nucleotide variant Nephronophthisis 16 [RCV002954234] Chr9:98756422 [GRCh38]
Chr9:101518704 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1425G>T (p.Leu475=) single nucleotide variant Nephronophthisis 16 [RCV002890598] Chr9:98778368 [GRCh38]
Chr9:101540650 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.658G>C (p.Ala220Pro) single nucleotide variant Inborn genetic diseases [RCV002786912] Chr9:98790308 [GRCh38]
Chr9:101552590 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.983C>T (p.Thr328Met) single nucleotide variant Nephronophthisis 16 [RCV002982922] Chr9:98784082 [GRCh38]
Chr9:101546364 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.578C>A (p.Thr193Lys) single nucleotide variant Inborn genetic diseases [RCV002743629] Chr9:98790388 [GRCh38]
Chr9:101552670 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.436A>G (p.Ser146Gly) single nucleotide variant Inborn genetic diseases [RCV002789680] Chr9:98790530 [GRCh38]
Chr9:101552812 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.71C>T (p.Thr24Met) single nucleotide variant Nephronophthisis 16 [RCV003082232] Chr9:98796421 [GRCh38]
Chr9:101558703 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2289C>T (p.Ser763=) single nucleotide variant Nephronophthisis 16 [RCV002700888] Chr9:98756457 [GRCh38]
Chr9:101518739 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1429C>T (p.Arg477Cys) single nucleotide variant Nephronophthisis 16 [RCV002982658] Chr9:98778364 [GRCh38]
Chr9:101540646 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.360-11C>T single nucleotide variant Nephronophthisis 16 [RCV002957209] Chr9:98790617 [GRCh38]
Chr9:101552899 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1545G>A (p.Ala515=) single nucleotide variant Nephronophthisis 16 [RCV002574247] Chr9:98778248 [GRCh38]
Chr9:101540530 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.147G>A (p.Pro49=) single nucleotide variant Nephronophthisis 16 [RCV002711972] Chr9:98796345 [GRCh38]
Chr9:101558627 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1508C>G (p.Pro503Arg) single nucleotide variant Nephronophthisis 16 [RCV003090873] Chr9:98778285 [GRCh38]
Chr9:101540567 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1219G>A (p.Asp407Asn) single nucleotide variant Nephronophthisis 16 [RCV002649319] Chr9:98782467 [GRCh38]
Chr9:101544749 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1940G>A (p.Ser647Asn) single nucleotide variant Nephronophthisis 16 [RCV002602525] Chr9:98770928 [GRCh38]
Chr9:101533210 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1347C>T (p.Pro449=) single nucleotide variant Nephronophthisis 16 [RCV003089760] Chr9:98780210 [GRCh38]
Chr9:101542492 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.74C>T (p.Ala25Val) single nucleotide variant Nephronophthisis 16 [RCV002646894] Chr9:98796418 [GRCh38]
Chr9:101558700 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.994C>G (p.Leu332Val) single nucleotide variant Nephronophthisis 16 [RCV003028257] Chr9:98784071 [GRCh38]
Chr9:101546353 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.359+10C>A single nucleotide variant Nephronophthisis 16 [RCV002895389] Chr9:98796123 [GRCh38]
Chr9:101558405 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1400G>A (p.Arg467Gln) single nucleotide variant Nephronophthisis 16 [RCV002937167] Chr9:98778393 [GRCh38]
Chr9:101540675 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1733G>A (p.Arg578His) single nucleotide variant Nephronophthisis 16 [RCV003011142] Chr9:98773965 [GRCh38]
Chr9:101536247 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1822-18C>T single nucleotide variant Nephronophthisis 16 [RCV002598790] Chr9:98771064 [GRCh38]
Chr9:101533346 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2321A>G (p.Asp774Gly) single nucleotide variant Nephronophthisis 16 [RCV002671227] Chr9:98756425 [GRCh38]
Chr9:101518707 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1690C>G (p.Pro564Ala) single nucleotide variant Nephronophthisis 16 [RCV002934075] Chr9:98774008 [GRCh38]
Chr9:101536290 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1766C>A (p.Ala589Glu) single nucleotide variant Inborn genetic diseases [RCV003167802]|Nephronophthisis 16 [RCV002792043] Chr9:98773932 [GRCh38]
Chr9:101536214 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.516T>C (p.His172=) single nucleotide variant Nephronophthisis 16 [RCV002938558] Chr9:98790450 [GRCh38]
Chr9:101552732 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2325G>A (p.Glu775=) single nucleotide variant Nephronophthisis 16 [RCV002833333] Chr9:98756421 [GRCh38]
Chr9:101518703 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro) single nucleotide variant Inborn genetic diseases [RCV002629676]|Nephronophthisis 16 [RCV002629675]|not provided [RCV003318743] Chr9:98780256 [GRCh38]
Chr9:101542538 [GRCh37]
Chr9:9q22.33
likely benign|uncertain significance
NM_173551.5(ANKS6):c.2331A>C (p.Glu777Asp) single nucleotide variant Nephronophthisis 16 [RCV003047713] Chr9:98751092 [GRCh38]
Chr9:101513374 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2327-4G>A single nucleotide variant Nephronophthisis 16 [RCV002922392] Chr9:98751100 [GRCh38]
Chr9:101513382 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.35TGC[4] (p.Leu14_Arg15insLeu) microsatellite Nephronophthisis 16 [RCV002628542] Chr9:98796448..98796449 [GRCh38]
Chr9:101558730..101558731 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2578A>G (p.Ser860Gly) single nucleotide variant Inborn genetic diseases [RCV003250642]|Nephronophthisis 16 [RCV002966406] Chr9:98736557 [GRCh38]
Chr9:101498839 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1112+11G>A single nucleotide variant Nephronophthisis 16 [RCV002746507] Chr9:98783942 [GRCh38]
Chr9:101546224 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.1279C>T (p.Arg427Trp) single nucleotide variant Inborn genetic diseases [RCV002960840] Chr9:98780278 [GRCh38]
Chr9:101542560 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2273A>T (p.His758Leu) single nucleotide variant Nephronophthisis 16 [RCV002746049] Chr9:98756473 [GRCh38]
Chr9:101518755 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1918G>A (p.Gly640Ser) single nucleotide variant Nephronophthisis 16 [RCV002944101] Chr9:98770950 [GRCh38]
Chr9:101533232 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2057G>A (p.Arg686Gln) single nucleotide variant Nephronophthisis 16 [RCV003073446] Chr9:98768166 [GRCh38]
Chr9:101530448 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter) single nucleotide variant Nephronophthisis 16 [RCV003164436] Chr9:98778420 [GRCh38]
Chr9:101540702 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.2372A>G (p.Gln791Arg) single nucleotide variant Inborn genetic diseases [RCV003209412] Chr9:98751051 [GRCh38]
Chr9:101513333 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.529G>C (p.Gly177Arg) single nucleotide variant Inborn genetic diseases [RCV003196225] Chr9:98790437 [GRCh38]
Chr9:101552719 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn) single nucleotide variant Nephronophthisis 16 [RCV003228203] Chr9:98768081 [GRCh38]
Chr9:101530363 [GRCh37]
Chr9:9q22.33
likely pathogenic
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln) single nucleotide variant Nephronophthisis 16 [RCV003141439] Chr9:98780322 [GRCh38]
Chr9:101542604 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2394+1G>A single nucleotide variant Nephronophthisis 16 [RCV003164437] Chr9:98751028 [GRCh38]
Chr9:101513310 [GRCh37]
Chr9:9q22.33
pathogenic|likely pathogenic
NM_173551.5(ANKS6):c.431G>C (p.Gly144Ala) single nucleotide variant not provided [RCV003159393] Chr9:98790535 [GRCh38]
Chr9:101552817 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.905T>C (p.Met302Thr) single nucleotide variant not provided [RCV003327214] Chr9:98784834 [GRCh38]
Chr9:101547116 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV003338346] Chr9:98796400 [GRCh38]
Chr9:101558682 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1184C>T (p.Thr395Met) single nucleotide variant not provided [RCV003425723] Chr9:98782502 [GRCh38]
Chr9:101544784 [GRCh37]
Chr9:9q22.33
uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2
pathogenic
NM_173551.5(ANKS6):c.1754C>A (p.Pro585His) single nucleotide variant not provided [RCV003430157] Chr9:98773944 [GRCh38]
Chr9:101536226 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.665G>A (p.Arg222Gln) single nucleotide variant Nephronophthisis 16 [RCV003582873] Chr9:98790301 [GRCh38]
Chr9:101552583 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.288C>T (p.Phe96=) single nucleotide variant Nephronophthisis 16 [RCV003741695] Chr9:98796204 [GRCh38]
Chr9:101558486 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2177C>T (p.Thr726Ile) single nucleotide variant Nephronophthisis 16 [RCV003741919] Chr9:98756569 [GRCh38]
Chr9:101518851 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.837G>T (p.Pro279=) single nucleotide variant Nephronophthisis 16 [RCV003740861] Chr9:98790129 [GRCh38]
Chr9:101552411 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2142+20T>G single nucleotide variant Nephronophthisis 16 [RCV003740826] Chr9:98768061 [GRCh38]
Chr9:101530343 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.741G>A (p.Lys247=) single nucleotide variant Nephronophthisis 16 [RCV003742152] Chr9:98790225 [GRCh38]
Chr9:101552507 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1407C>G (p.Leu469=) single nucleotide variant Nephronophthisis 16 [RCV003742159] Chr9:98778386 [GRCh38]
Chr9:101540668 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1980C>T (p.Ser660=) single nucleotide variant ANKS6-related disorder [RCV003893353]|Nephronophthisis 16 [RCV003740986] Chr9:98768243 [GRCh38]
Chr9:101530525 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2220C>T (p.Ser740=) single nucleotide variant ANKS6-related disorder [RCV003919263]|Nephronophthisis 16 [RCV003582471] Chr9:98756526 [GRCh38]
Chr9:101518808 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2394+15T>C single nucleotide variant Nephronophthisis 16 [RCV003581154] Chr9:98751014 [GRCh38]
Chr9:101513296 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1331G>A (p.Ser444Asn) single nucleotide variant Nephronophthisis 16 [RCV003581267] Chr9:98780226 [GRCh38]
Chr9:101542508 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.359+7C>T single nucleotide variant Nephronophthisis 16 [RCV003582635] Chr9:98796126 [GRCh38]
Chr9:101558408 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2395-12C>A single nucleotide variant Nephronophthisis 16 [RCV003582687] Chr9:98745687 [GRCh38]
Chr9:101507969 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.24G>T (p.Pro8=) single nucleotide variant Nephronophthisis 16 [RCV003742346] Chr9:98796468 [GRCh38]
Chr9:101558750 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1618-13C>T single nucleotide variant Nephronophthisis 16 [RCV003582482] Chr9:98774093 [GRCh38]
Chr9:101536375 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1361G>A (p.Gly454Glu) single nucleotide variant Nephronophthisis 16 [RCV003741054] Chr9:98780196 [GRCh38]
Chr9:101542478 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2143-10T>C single nucleotide variant Nephronophthisis 16 [RCV003742343] Chr9:98756613 [GRCh38]
Chr9:101518895 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1973-6C>T single nucleotide variant Nephronophthisis 16 [RCV003581192] Chr9:98768256 [GRCh38]
Chr9:101530538 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.45C>T (p.Arg15=) single nucleotide variant Nephronophthisis 16 [RCV003581274] Chr9:98796447 [GRCh38]
Chr9:101558729 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1626C>T (p.Asn542=) single nucleotide variant Nephronophthisis 16 [RCV003741788] Chr9:98774072 [GRCh38]
Chr9:101536354 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.399C>T (p.His133=) single nucleotide variant Nephronophthisis 16 [RCV003741923] Chr9:98790567 [GRCh38]
Chr9:101552849 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2092C>G (p.Pro698Ala) single nucleotide variant Nephronophthisis 16 [RCV003581266] Chr9:98768131 [GRCh38]
Chr9:101530413 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.996A>G (p.Leu332=) single nucleotide variant Nephronophthisis 16 [RCV003582761] Chr9:98784069 [GRCh38]
Chr9:101546351 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.669C>T (p.Thr223=) single nucleotide variant Nephronophthisis 16 [RCV003856171] Chr9:98790297 [GRCh38]
Chr9:101552579 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2127C>T (p.Ser709=) single nucleotide variant Nephronophthisis 16 [RCV003582517] Chr9:98768096 [GRCh38]
Chr9:101530378 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2394+8T>C single nucleotide variant Nephronophthisis 16 [RCV003582081] Chr9:98751021 [GRCh38]
Chr9:101513303 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.744C>T (p.Gly248=) single nucleotide variant Nephronophthisis 16 [RCV003740788] Chr9:98790222 [GRCh38]
Chr9:101552504 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.411C>G (p.Val137=) single nucleotide variant Nephronophthisis 16 [RCV003581400] Chr9:98790555 [GRCh38]
Chr9:101552837 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.862+19dup duplication Nephronophthisis 16 [RCV003581503] Chr9:98790084..98790085 [GRCh38]
Chr9:101552366..101552367 [GRCh37]
Chr9:9q22.33
benign
NM_173551.5(ANKS6):c.2080C>T (p.Pro694Ser) single nucleotide variant Nephronophthisis 16 [RCV003581101] Chr9:98768143 [GRCh38]
Chr9:101530425 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.189_190del (p.Ala64fs) deletion Nephronophthisis 16 [RCV003742498] Chr9:98796302..98796303 [GRCh38]
Chr9:101558584..101558585 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs) duplication Nephronophthisis 16 [RCV003742517] Chr9:98773999..98774000 [GRCh38]
Chr9:101536281..101536282 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.2142+11T>C single nucleotide variant Nephronophthisis 16 [RCV003845681] Chr9:98768070 [GRCh38]
Chr9:101530352 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.723C>T (p.Ala241=) single nucleotide variant Nephronophthisis 16 [RCV003860314] Chr9:98790243 [GRCh38]
Chr9:101552525 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.846C>T (p.Thr282=) single nucleotide variant Nephronophthisis 16 [RCV003869704] Chr9:98790120 [GRCh38]
Chr9:101552402 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter) single nucleotide variant Nephronophthisis 16 [RCV003842929] Chr9:98783969 [GRCh38]
Chr9:101546251 [GRCh37]
Chr9:9q22.33
pathogenic
NM_173551.5(ANKS6):c.1159A>C (p.Thr387Pro) single nucleotide variant Nephronophthisis 16 [RCV003989895] Chr9:98782527 [GRCh38]
Chr9:101544809 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1280G>A (p.Arg427Gln) single nucleotide variant Inborn genetic diseases [RCV004422390] Chr9:98780277 [GRCh38]
Chr9:101542559 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1807G>A (p.Gly603Arg) single nucleotide variant Inborn genetic diseases [RCV004422394] Chr9:98773891 [GRCh38]
Chr9:101536173 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1409A>G (p.Lys470Arg) single nucleotide variant Inborn genetic diseases [RCV004422391] Chr9:98778384 [GRCh38]
Chr9:101540666 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.178G>A (p.Ala60Thr) single nucleotide variant Inborn genetic diseases [RCV004422392] Chr9:98796314 [GRCh38]
Chr9:101558596 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2511+6G>A single nucleotide variant Inborn genetic diseases [RCV004422399] Chr9:98745553 [GRCh38]
Chr9:101507835 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2516G>A (p.Arg839His) single nucleotide variant Inborn genetic diseases [RCV004422400] Chr9:98736619 [GRCh38]
Chr9:101498901 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.781G>A (p.Ala261Thr) single nucleotide variant Inborn genetic diseases [RCV004424386] Chr9:98790185 [GRCh38]
Chr9:101552467 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1798G>A (p.Val600Met) single nucleotide variant Inborn genetic diseases [RCV004422393] Chr9:98773900 [GRCh38]
Chr9:101536182 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2280G>T (p.Gln760His) single nucleotide variant Inborn genetic diseases [RCV004422397] Chr9:98756466 [GRCh38]
Chr9:101518748 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.524C>T (p.Pro175Leu) single nucleotide variant Inborn genetic diseases [RCV004422401] Chr9:98790442 [GRCh38]
Chr9:101552724 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.5G>A (p.Gly2Asp) single nucleotide variant Inborn genetic diseases [RCV004422403] Chr9:98796487 [GRCh38]
Chr9:101558769 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.596T>G (p.Ile199Ser) single nucleotide variant Inborn genetic diseases [RCV004422402] Chr9:98790370 [GRCh38]
Chr9:101552652 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2082G>A (p.Pro694=) single nucleotide variant ANKS6-related disorder [RCV003932054] Chr9:98768141 [GRCh38]
Chr9:101530423 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.2361T>A (p.Leu787=) single nucleotide variant ANKS6-related disorder [RCV003914082] Chr9:98751062 [GRCh38]
Chr9:101513344 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.1943G>A (p.Arg648Gln) single nucleotide variant Inborn genetic diseases [RCV004422395] Chr9:98770925 [GRCh38]
Chr9:101533207 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1966C>T (p.Arg656Cys) single nucleotide variant Inborn genetic diseases [RCV004422396] Chr9:98770902 [GRCh38]
Chr9:101533184 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.2373G>T (p.Gln791His) single nucleotide variant Inborn genetic diseases [RCV004422398] Chr9:98751050 [GRCh38]
Chr9:101513332 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1559A>C (p.Lys520Thr) single nucleotide variant Nephronophthisis 16 [RCV003990055] Chr9:98778234 [GRCh38]
Chr9:101540516 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.858A>G (p.Lys286=) single nucleotide variant ANKS6-related disorder [RCV003917130] Chr9:98790108 [GRCh38]
Chr9:101552390 [GRCh37]
Chr9:9q22.33
likely benign
NM_173551.5(ANKS6):c.887T>C (p.Ile296Thr) single nucleotide variant Nephronophthisis 16 [RCV004577595] Chr9:98784852 [GRCh38]
Chr9:101547134 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.1617G>A (p.Met539Ile) single nucleotide variant Nephronophthisis 16 [RCV004577598] Chr9:98777405 [GRCh38]
Chr9:101539687 [GRCh37]
Chr9:9q22.33
uncertain significance
NM_173551.5(ANKS6):c.651dup (p.Asn218fs) duplication Nephronophthisis 16 [RCV004577596] Chr9:98790314..98790315 [GRCh38]
Chr9:101552596..101552597 [GRCh37]
Chr9:9q22.33
pathogenic
NC_000009.11:g.(?_101470679)_(101611374_?)del deletion Epileptic encephalopathy [RCV004581897] Chr9:101470679..101611374 [GRCh37] likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6774
Count of miRNA genes:1231
Interacting mature miRNAs:1598
Transcripts:ENST00000353234, ENST00000375018, ENST00000375019, ENST00000444472, ENST00000466120, ENST00000471846, ENST00000486778, ENST00000540940
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.

Markers in Region
RH15962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,498,236 - 101,498,391UniSTSGRCh37
Build 369100,538,057 - 100,538,212RGDNCBI36
Celera972,012,131 - 72,012,286RGD
Cytogenetic Map9q22.33UniSTS
HuRef971,097,606 - 71,097,761UniSTS
GeneMap99-GB4 RH Map9317.48UniSTS
AB046634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,494,628 - 101,494,756UniSTSGRCh37
Build 369100,534,449 - 100,534,577RGDNCBI36
Celera972,008,523 - 72,008,651RGD
HuRef971,093,998 - 71,094,126UniSTS
SHGC-4650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,501,766 - 101,501,938UniSTSGRCh37
GRCh379101,501,766 - 101,503,440UniSTSGRCh37
Build 369100,541,587 - 100,541,759RGDNCBI36
Celera972,015,661 - 72,017,348UniSTS
Celera972,015,661 - 72,015,833RGD
Cytogenetic Map9q22.33UniSTS
HuRef971,101,137 - 71,101,309UniSTS
HuRef971,101,137 - 71,102,824UniSTS
Stanford-G3 RH Map93395.0UniSTS
NCBI RH Map9832.0UniSTS
D9S2093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,494,332 - 101,494,481UniSTSGRCh37
Build 369100,534,153 - 100,534,302RGDNCBI36
Celera972,008,227 - 72,008,376RGD
Cytogenetic Map9q22.33UniSTS
HuRef971,093,702 - 71,093,851UniSTS


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 1341 406 758 38 202 38 803 521 1110 164 791 1245 13 63 512
Low 1098 2226 947 564 1359 406 3553 1646 2623 254 669 363 162 1 1141 2276 6 1
Below cutoff 358 20 20 371 20 30 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH015499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM552108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX462630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY994327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000353234   ⟹   ENSP00000297837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,732,009 - 98,796,555 (-)Ensembl
RefSeq Acc Id: ENST00000375019   ⟹   ENSP00000364159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,731,996 - 98,796,965 (-)Ensembl
RefSeq Acc Id: ENST00000444472   ⟹   ENSP00000398648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,731,329 - 98,777,426 (-)Ensembl
RefSeq Acc Id: ENST00000466120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,783,950 - 98,790,496 (-)Ensembl
RefSeq Acc Id: ENST00000471846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,789,911 - 98,796,539 (-)Ensembl
RefSeq Acc Id: ENST00000486778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,783,570 - 98,784,468 (-)Ensembl
RefSeq Acc Id: ENST00000634393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl998,732,013 - 98,795,996 (-)Ensembl
RefSeq Acc Id: NM_173551   ⟹   NP_775822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38998,732,009 - 98,796,555 (-)NCBI
GRCh379101,494,291 - 101,558,794 (-)NCBI
Build 369100,534,112 - 100,598,615 (-)NCBI Archive
Celera972,008,186 - 72,066,777 (-)RGD
HuRef971,093,661 - 71,157,912 (-)ENTREZGENE
CHM1_19101,640,709 - 101,705,226 (-)NCBI
T2T-CHM13v2.09110,903,669 - 110,968,205 (-)NCBI
Sequence:
RefSeq Acc Id: NP_775822   ⟸   NM_173551
- UniProtKB: Q8N9L6 (UniProtKB/Swiss-Prot),   Q6P2R2 (UniProtKB/Swiss-Prot),   Q68DB8 (UniProtKB/Swiss-Prot),   Q5VSL4 (UniProtKB/Swiss-Prot),   Q5VSL3 (UniProtKB/Swiss-Prot),   Q5VSL2 (UniProtKB/Swiss-Prot),   Q5VSL0 (UniProtKB/Swiss-Prot),   A0SE62 (UniProtKB/Swiss-Prot),   Q96D62 (UniProtKB/Swiss-Prot),   Q68DC2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000364159   ⟸   ENST00000375019
RefSeq Acc Id: ENSP00000398648   ⟸   ENST00000444472
RefSeq Acc Id: ENSP00000297837   ⟸   ENST00000353234
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q68DC2-F1-model_v2 AlphaFold Q68DC2 1-871 view protein structure

Promoters
RGD ID:7215643
Promoter ID:EPDNEW_H13568
Type:initiation region
Name:ANKS6_1
Description:ankyrin repeat and sterile alpha motif domain containing 6
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
GRCh38998,796,539 - 98,796,599EPDNEW
RGD ID:6807232
Promoter ID:HG_KWN:64297
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000053381,   UC004AYT.1,   UC004AYX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369100,587,376 - 100,587,876 (-)MPROMDB
RGD ID:6807231
Promoter ID:HG_KWN:64298
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562
Transcripts:OTTHUMT00000053380,   UC004AYY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369100,593,091 - 100,593,591 (-)MPROMDB
RGD ID:6807235
Promoter ID:HG_KWN:64299
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000353234,   ENST00000375018,   ENST00000375019,   OTTHUMT00000277054
Position:
Human AssemblyChrPosition (strand)Source
Build 369100,598,516 - 100,599,016 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26724 AgrOrtholog
COSMIC ANKS6 COSMIC
Ensembl Genes ENSG00000165138 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000353234 ENTREZGENE
  ENST00000353234.5 UniProtKB/Swiss-Prot
  ENST00000375019.6 UniProtKB/TrEMBL
  ENST00000444472.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165138 GTEx
HGNC ID HGNC:26724 ENTREZGENE
Human Proteome Map ANKS6 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:203286 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 203286 ENTREZGENE
OMIM 615370 OMIM
PANTHER ANKYRIN REPEAT AND SAM DOMAIN-CONTAINING PROTEIN 6 UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17 UniProtKB/Swiss-Prot
  MASK PROTEIN UniProtKB/Swiss-Prot
  SCP160 UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931829 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRS7_HUMAN UniProtKB/TrEMBL
  A0SE62 ENTREZGENE
  ANKS6_HUMAN UniProtKB/Swiss-Prot
  B3KXP1_HUMAN UniProtKB/TrEMBL
  H7C163_HUMAN UniProtKB/TrEMBL
  L8E994_HUMAN UniProtKB/TrEMBL
  Q5VSL0 ENTREZGENE
  Q5VSL2 ENTREZGENE
  Q5VSL3 ENTREZGENE
  Q5VSL4 ENTREZGENE
  Q68DB8 ENTREZGENE
  Q68DC2 ENTREZGENE
  Q6P2R2 ENTREZGENE
  Q8N9L6 ENTREZGENE
  Q96D62 ENTREZGENE
UniProt Secondary A0SE62 UniProtKB/Swiss-Prot
  Q5VSL0 UniProtKB/Swiss-Prot
  Q5VSL2 UniProtKB/Swiss-Prot
  Q5VSL3 UniProtKB/Swiss-Prot
  Q5VSL4 UniProtKB/Swiss-Prot
  Q68DB8 UniProtKB/Swiss-Prot
  Q6P2R2 UniProtKB/Swiss-Prot
  Q8N9L6 UniProtKB/Swiss-Prot
  Q96D62 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-25 ANKS6  ankyrin repeat and sterile alpha motif domain containing 6  ANKRD14  ankyrin repeat domain 14  Data merged from RGD:1349121 737654 PROVISIONAL