PDE6C (phosphodiesterase 6C) - Rat Genome Database

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Gene: PDE6C (phosphodiesterase 6C) Homo sapiens
Analyze
Symbol: PDE6C
Name: phosphodiesterase 6C
RGD ID: 1320406
HGNC Page HGNC:8787
Description: Predicted to enable 3',5'-cyclic-nucleotide phosphodiesterase activity. Predicted to be involved in signal transduction and visual perception. Predicted to act upstream of or within phototransduction, visible light; retinal cone cell development; and sensory perception of light stimulus. Predicted to be located in plasma membrane. Implicated in cone-rod dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACHM5; cGMP phosphodiesterase 6C; COD4; cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'; PDEA2; phosphodiesterase 6C, cGMP-specific, cone, alpha prime
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,612,537 - 93,666,010 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,612,537 - 93,666,010 (+)EnsemblGRCh38hg38GRCh38
GRCh371095,372,294 - 95,425,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,362,335 - 95,415,420 (+)NCBINCBI36Build 36hg18NCBI36
Build 341095,362,334 - 95,415,418NCBI
Celera1089,113,470 - 89,166,556 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1089,000,108 - 89,053,208 (+)NCBIHuRef
CHM1_11095,654,899 - 95,708,001 (+)NCBICHM1_1
T2T-CHM13v2.01094,492,491 - 94,545,941 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Characteristics of photoreceptor PDE (PDE6): similarities and differences to PDE5. Cote RH Int J Impot Res. 2004 Jun;16 Suppl 1:S28-33.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7490077   PMID:8543163   PMID:8641425   PMID:10393054   PMID:11076863   PMID:11329013   PMID:11394879   PMID:12477932   PMID:15164054   PMID:19615668   PMID:19801642   PMID:19887631  
PMID:19913121   PMID:20301591   PMID:20351714   PMID:20379614   PMID:20628086   PMID:21127010   PMID:21267001   PMID:21873635   PMID:23033484   PMID:23362848   PMID:24839885   PMID:25605338  
PMID:26085644   PMID:28583373   PMID:30289319   PMID:31478661   PMID:32306724   PMID:32787476   PMID:33001157   PMID:33277362   PMID:35644251   PMID:38110033  


Genomics

Comparative Map Data
PDE6C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,612,537 - 93,666,010 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,612,537 - 93,666,010 (+)EnsemblGRCh38hg38GRCh38
GRCh371095,372,294 - 95,425,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,362,335 - 95,415,420 (+)NCBINCBI36Build 36hg18NCBI36
Build 341095,362,334 - 95,415,418NCBI
Celera1089,113,470 - 89,166,556 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1089,000,108 - 89,053,208 (+)NCBIHuRef
CHM1_11095,654,899 - 95,708,001 (+)NCBICHM1_1
T2T-CHM13v2.01094,492,491 - 94,545,941 (+)NCBIT2T-CHM13v2.0
Pde6c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391938,121,220 - 38,172,391 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1938,121,229 - 38,172,406 (+)EnsemblGRCm39 Ensembl
GRCm381938,132,781 - 38,183,955 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1938,132,781 - 38,183,958 (+)EnsemblGRCm38mm10GRCm38
MGSCv371938,207,271 - 38,258,445 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361938,198,090 - 38,248,883 (+)NCBIMGSCv36mm8
Celera1938,926,729 - 38,979,099 (+)NCBICelera
Cytogenetic Map19C2NCBI
cM Map1932.77NCBI
Pde6c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81245,322,015 - 245,377,874 (+)NCBIGRCr8
mRatBN7.21235,909,583 - 235,965,435 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1235,909,775 - 235,965,315 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1244,331,176 - 244,387,526 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01251,226,959 - 251,282,404 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01244,065,193 - 244,120,646 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01256,822,099 - 256,885,879 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1256,822,334 - 256,877,810 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01264,302,622 - 264,358,510 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,459,653 - 242,515,102 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,652,932 - 242,727,438 (+)NCBI
Celera1233,003,126 - 233,058,624 (+)NCBICelera
Cytogenetic Map1q53NCBI
Pde6c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955507129,678 - 179,305 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955507129,678 - 179,586 (+)NCBIChiLan1.0ChiLan1.0
PDE6C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28105,652,841 - 105,708,283 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110105,658,156 - 105,715,240 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01090,361,003 - 90,414,169 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11093,871,704 - 93,924,654 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1093,871,704 - 93,924,654 (+)Ensemblpanpan1.1panPan2
PDE6C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1287,839,604 - 7,887,827 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl287,839,847 - 7,887,776 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha288,016,008 - 8,063,731 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0288,099,839 - 8,147,676 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl288,100,076 - 8,147,622 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1287,819,583 - 7,867,280 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0287,848,791 - 7,896,637 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0288,018,719 - 8,066,559 (+)NCBIUU_Cfam_GSD_1.0
Pde6c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721339,709,403 - 39,760,997 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366011,341,658 - 1,393,377 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366011,343,538 - 1,393,605 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDE6C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14105,050,691 - 105,122,421 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114105,010,974 - 105,122,628 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214114,743,150 - 114,854,527 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PDE6C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1986,850,500 - 86,904,853 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl986,851,867 - 86,904,481 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604847,626,964 - 47,680,050 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pde6c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247374,810,806 - 4,867,370 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247374,804,630 - 4,867,565 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDE6C
563 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006204.4(PDE6C):c.256_257dup (p.Leu87fs) microsatellite Achromatopsia 5 [RCV000009310]|not provided [RCV001851759] Chr10:93612978..93612979 [GRCh38]
Chr10:95372735..95372736 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2367+1_2367+5del deletion Achromatopsia 5 [RCV000009311]|Cone dystrophy 4 [RCV002250457]|not provided [RCV000658573] Chr10:93662640..93662644 [GRCh38]
Chr10:95422397..95422401 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.481-12T>A single nucleotide variant Achromatopsia 5 [RCV000009315] Chr10:93620620 [GRCh38]
Chr10:95380377 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1483-2A>G single nucleotide variant Achromatopsia 5 [RCV000009316] Chr10:93640068 [GRCh38]
Chr10:95399825 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1682dup (p.Tyr561Ter) duplication Achromatopsia 5 [RCV000009320] Chr10:93640501..93640502 [GRCh38]
Chr10:95400258..95400259 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) single nucleotide variant Achromatopsia 5 [RCV000761206]|Cone dystrophy 4 [RCV000009308]|not provided [RCV001389961] Chr10:93612810 [GRCh38]
Chr10:95372567 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.967T>A (p.Tyr323Asn) single nucleotide variant Achromatopsia 5 [RCV000009309] Chr10:93626667 [GRCh38]
Chr10:95386424 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1363A>G (p.Met455Val) single nucleotide variant Achromatopsia 5 [RCV000009312] Chr10:93635590 [GRCh38]
Chr10:95395347 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.633G>C (p.Glu211Asp) single nucleotide variant Achromatopsia 5 [RCV000009313] Chr10:93620784 [GRCh38]
Chr10:95380541 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2368G>A (p.Glu790Lys) single nucleotide variant Achromatopsia 5 [RCV000009314] Chr10:93663028 [GRCh38]
Chr10:95422785 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1805A>T (p.His602Leu) single nucleotide variant Achromatopsia 5 [RCV000009317] Chr10:93640987 [GRCh38]
Chr10:95400744 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.826C>T (p.Arg276Ter) single nucleotide variant Achromatopsia 5 [RCV000009318] Chr10:93622034 [GRCh38]
Chr10:95381791 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2457T>A (p.Tyr819Ter) single nucleotide variant Achromatopsia 5 [RCV000009319] Chr10:93663117 [GRCh38]
Chr10:95422874 [GRCh37]
Chr10:10q23.33
pathogenic
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2
pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
NM_006204.3(PDE6C):c.1020C>T (p.Asp340=) single nucleotide variant Malignant melanoma [RCV000069081] Chr10:93626820 [GRCh38]
Chr10:95386577 [GRCh37]
Chr10:95376567 [NCBI36]
Chr10:10q23.33
not provided
NM_006204.3(PDE6C):c.1407C>T (p.Ser469=) single nucleotide variant Malignant melanoma [RCV000069082] Chr10:93635634 [GRCh38]
Chr10:95395391 [GRCh37]
Chr10:95385381 [NCBI36]
Chr10:10q23.33
not provided
NM_006204.3(PDE6C):c.1558G>C (p.Gly520Arg) single nucleotide variant Malignant melanoma [RCV000069083] Chr10:93640145 [GRCh38]
Chr10:95399902 [GRCh37]
Chr10:95389892 [NCBI36]
Chr10:10q23.33
not provided
NM_006204.3(PDE6C):c.1559G>T (p.Gly520Val) single nucleotide variant Malignant melanoma [RCV000069084] Chr10:93640146 [GRCh38]
Chr10:95399903 [GRCh37]
Chr10:95389893 [NCBI36]
Chr10:10q23.33
not provided
NM_006204.3(PDE6C):c.1102G>A (p.Glu368Lys) single nucleotide variant Malignant melanoma [RCV000062096] Chr10:93629288 [GRCh38]
Chr10:95389045 [GRCh37]
Chr10:95379035 [NCBI36]
Chr10:10q23.33
not provided
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) single nucleotide variant Achromatopsia [RCV001105189]|Cone dystrophy 4 [RCV001106314]|not provided [RCV000416160] Chr10:93658946 [GRCh38]
Chr10:95418703 [GRCh37]
Chr10:10q23.33
conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) single nucleotide variant Achromatopsia [RCV000375870]|Cone dystrophy 4 [RCV000318895]|not provided [RCV001516038]|not specified [RCV000081363] Chr10:93612977 [GRCh38]
Chr10:95372734 [GRCh37]
Chr10:10q23.33
benign|likely benign
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) single nucleotide variant Achromatopsia [RCV000388703]|Cone dystrophy 4 [RCV000296706]|not provided [RCV001522011]|not specified [RCV000081364] Chr10:93613007 [GRCh38]
Chr10:95372764 [GRCh37]
Chr10:10q23.33
benign|likely benign
NM_006204.4(PDE6C):c.887T>C (p.Ile296Thr) single nucleotide variant not provided [RCV000081365] Chr10:93625597 [GRCh38]
Chr10:95385354 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) single nucleotide variant Cone dystrophy 4 [RCV001781531]|not provided [RCV000171184] Chr10:93620969 [GRCh38]
Chr10:95380726 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.939+5G>A single nucleotide variant not provided [RCV000171185] Chr10:93625654 [GRCh38]
Chr10:95385411 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic|uncertain significance
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) single nucleotide variant not provided [RCV000171186] Chr10:93640200 [GRCh38]
Chr10:95399957 [GRCh37]
Chr10:10q23.33
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.1946T>C (p.Ile649Thr) single nucleotide variant not provided [RCV000171187] Chr10:93655770 [GRCh38]
Chr10:95415527 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.205G>A (p.Val69Met) single nucleotide variant not provided [RCV000173397] Chr10:93612930 [GRCh38]
Chr10:95372687 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2461G>A (p.Ala821Thr) single nucleotide variant not provided [RCV001303105] Chr10:93663121 [GRCh38]
Chr10:95422878 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1967G>A (p.Arg656Gln) single nucleotide variant not provided [RCV000175062] Chr10:93655791 [GRCh38]
Chr10:95415548 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2037-7T>C single nucleotide variant Achromatopsia [RCV001105188]|Cone dystrophy 4 [RCV001105187]|not provided [RCV000175196] Chr10:93658894 [GRCh38]
Chr10:95418651 [GRCh37]
Chr10:10q23.33
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1
pathogenic
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) single nucleotide variant Achromatopsia [RCV001108272]|Cone dystrophy 4 [RCV001103074]|not provided [RCV000900748]|not specified [RCV000153668] Chr10:93613196 [GRCh38]
Chr10:95372953 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) single nucleotide variant Achromatopsia [RCV000332176]|Cone dystrophy 4 [RCV000389057]|not provided [RCV000178258] Chr10:93621950 [GRCh38]
Chr10:95381707 [GRCh37]
Chr10:10q23.33
conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.991A>G (p.Ile331Val) single nucleotide variant not provided [RCV000179460] Chr10:93626691 [GRCh38]
Chr10:95386448 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=) single nucleotide variant not provided [RCV000180631] Chr10:93634904 [GRCh38]
Chr10:95394661 [GRCh37]
Chr10:10q23.33
conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro) single nucleotide variant Cone dystrophy 4 [RCV000199969]|not provided [RCV001054819] Chr10:93655782 [GRCh38]
Chr10:95415539 [GRCh37]
Chr10:10q23.33
likely pathogenic|uncertain significance
NM_006204.4(PDE6C):c.1936-9A>G single nucleotide variant Achromatopsia [RCV000302694]|Cone dystrophy 4 [RCV000273278]|not provided [RCV000969789]|not specified [RCV000325044] Chr10:93655751 [GRCh38]
Chr10:95415508 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.1892A>G (p.Glu631Gly) single nucleotide variant Retinal dystrophy [RCV000225510] Chr10:93646004 [GRCh38]
Chr10:95405761 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1894A>T (p.Arg632Trp) single nucleotide variant Retinal dystrophy [RCV000225586] Chr10:93646006 [GRCh38]
Chr10:95405763 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) single nucleotide variant Achromatopsia [RCV001103272]|Cone dystrophy 4 [RCV000625372]|not provided [RCV000968895] Chr10:93640937 [GRCh38]
Chr10:95400694 [GRCh37]
Chr10:10q23.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) single nucleotide variant Achromatopsia [RCV000361348]|Cone dystrophy 4 [RCV000304274]|not provided [RCV001205632]|not specified [RCV000248472] Chr10:93663163 [GRCh38]
Chr10:95422920 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) single nucleotide variant Achromatopsia [RCV000278315]|Cone dystrophy 4 [RCV000379751]|not provided [RCV001510622]|not specified [RCV000244014] Chr10:93635607 [GRCh38]
Chr10:95395364 [GRCh37]
Chr10:10q23.33
benign|likely benign
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) single nucleotide variant Achromatopsia [RCV000361122]|Cone dystrophy 4 [RCV000259406]|not provided [RCV000965861]|not specified [RCV000253954] Chr10:93612928 [GRCh38]
Chr10:95372685 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.1935+10C>A single nucleotide variant Achromatopsia [RCV000365009]|Cone dystrophy 4 [RCV000308051]|not provided [RCV001518648]|not specified [RCV000249172] Chr10:93646057 [GRCh38]
Chr10:95405814 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1270-7A>G single nucleotide variant Achromatopsia [RCV000265172]|Cone dystrophy 4 [RCV000322599]|not provided [RCV001518647]|not specified [RCV000249473] Chr10:93635490 [GRCh38]
Chr10:95395247 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1119+21A>G single nucleotide variant not provided [RCV001530891]|not specified [RCV000244717] Chr10:93629326 [GRCh38]
Chr10:95389083 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) single nucleotide variant Achromatopsia [RCV000326264]|Cone dystrophy 4 [RCV000988435]|not provided [RCV001516039]|not specified [RCV000249739] Chr10:93622016 [GRCh38]
Chr10:95381773 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1270-9C>T single nucleotide variant Achromatopsia [RCV000328542]|Cone dystrophy 4 [RCV000376231]|not provided [RCV001521620]|not specified [RCV000252222] Chr10:93635488 [GRCh38]
Chr10:95395245 [GRCh37]
Chr10:10q23.33
benign|likely benign
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) single nucleotide variant Achromatopsia [RCV000664199]|not provided [RCV000487525] Chr10:93659005 [GRCh38]
Chr10:95418762 [GRCh37]
Chr10:10q23.33
conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) single nucleotide variant Achromatopsia [RCV000277226]|Cone dystrophy 4 [RCV000306537]|not provided [RCV001518646]|not specified [RCV000252513] Chr10:93629284 [GRCh38]
Chr10:95389041 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly) single nucleotide variant Achromatopsia [RCV001105281]|Cone dystrophy 4 [RCV001105282]|not provided [RCV001439901]|not specified [RCV000245363] Chr10:93663161 [GRCh38]
Chr10:95422918 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.2037-13G>C single nucleotide variant Achromatopsia [RCV000359666]|Cone dystrophy 4 [RCV000267414] Chr10:93658888 [GRCh38]
Chr10:95418645 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) single nucleotide variant Achromatopsia [RCV000398597]|Cone dystrophy 4 [RCV000344692]|not provided [RCV001297987] Chr10:93613041 [GRCh38]
Chr10:95372798 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) single nucleotide variant Achromatopsia [RCV000406720]|Cone dystrophy 4 [RCV000303788]|not provided [RCV001418873] Chr10:93613171 [GRCh38]
Chr10:95372928 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.*209T>C single nucleotide variant Achromatopsia [RCV000325411]|Cone dystrophy 4 [RCV000270393] Chr10:93665627 [GRCh38]
Chr10:95425384 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.2208+14A>C single nucleotide variant Achromatopsia [RCV000287667]|Cone dystrophy 4 [RCV000345027]|not provided [RCV001523320] Chr10:93659181 [GRCh38]
Chr10:95418938 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) single nucleotide variant Achromatopsia [RCV000304576]|Cone dystrophy 4 [RCV000393010]|not provided [RCV001069466] Chr10:93663172 [GRCh38]
Chr10:95422929 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) single nucleotide variant Achromatopsia [RCV000324696]|Cone dystrophy 4 [RCV000372284]|not provided [RCV000965812] Chr10:93658960 [GRCh38]
Chr10:95418717 [GRCh37]
Chr10:10q23.33
benign|likely benign
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) single nucleotide variant Achromatopsia [RCV000271423]|Cone dystrophy 4 [RCV000363661]|not provided [RCV000890856]|not specified [RCV000731512] Chr10:93629290 [GRCh38]
Chr10:95389047 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.*87C>T single nucleotide variant Achromatopsia [RCV000328907]|Cone dystrophy 4 [RCV000364970] Chr10:93665505 [GRCh38]
Chr10:95425262 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) single nucleotide variant Achromatopsia [RCV000290927]|Cone dystrophy 4 [RCV000348172]|not provided [RCV001212083] Chr10:93613081 [GRCh38]
Chr10:95372838 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1935+4C>T single nucleotide variant Achromatopsia [RCV000352726]|Cone dystrophy 4 [RCV000391351]|not provided [RCV001231841] Chr10:93646051 [GRCh38]
Chr10:95405808 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.724-15G>T single nucleotide variant Achromatopsia [RCV000366981]|Cone dystrophy 4 [RCV000274535]|not provided [RCV001523455] Chr10:93621917 [GRCh38]
Chr10:95381674 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) single nucleotide variant Achromatopsia [RCV000291187]|Cone dystrophy 4 [RCV000402224]|not provided [RCV000902299]|not specified [RCV001700045] Chr10:93663085 [GRCh38]
Chr10:95422842 [GRCh37]
Chr10:10q23.33
benign|likely benign|uncertain significance
NM_006204.4(PDE6C):c.864+13C>T single nucleotide variant Achromatopsia [RCV000291269]|Cone dystrophy 4 [RCV000383373]|not provided [RCV001523615] Chr10:93622085 [GRCh38]
Chr10:95381842 [GRCh37]
Chr10:10q23.33
benign|uncertain significance
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) single nucleotide variant Achromatopsia [RCV000309969]|Cone dystrophy 4 [RCV000357767]|not provided [RCV001314357] Chr10:93612826 [GRCh38]
Chr10:95372583 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.*247A>C single nucleotide variant Achromatopsia [RCV000385702]|Cone dystrophy 4 [RCV000331167] Chr10:93665665 [GRCh38]
Chr10:95425422 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) single nucleotide variant Achromatopsia [RCV000293417]|Cone dystrophy 4 [RCV000385449]|not provided [RCV001483383] Chr10:93659149 [GRCh38]
Chr10:95418906 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) single nucleotide variant Achromatopsia [RCV000293164]|Cone dystrophy 4 [RCV000625371]|not provided [RCV001511753]|not specified [RCV001699350] Chr10:93612977 [GRCh38]
Chr10:95372734 [GRCh37]
Chr10:10q23.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.1072-8C>T single nucleotide variant Achromatopsia [RCV000312532]|Cone dystrophy 4 [RCV000369601]|not provided [RCV001394048] Chr10:93629250 [GRCh38]
Chr10:95389007 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.2144+15T>C single nucleotide variant Achromatopsia [RCV000261361]|Cone dystrophy 4 [RCV000318942]|not provided [RCV001509648] Chr10:93659023 [GRCh38]
Chr10:95418780 [GRCh37]
Chr10:10q23.33
benign|uncertain significance
NM_006204.4(PDE6C):c.*235A>T single nucleotide variant Achromatopsia [RCV000389162]|Cone dystrophy 4 [RCV000294836] Chr10:93665653 [GRCh38]
Chr10:95425410 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1482+9T>C single nucleotide variant Achromatopsia [RCV000373939]|Cone dystrophy 4 [RCV000335597]|not provided [RCV001394955] Chr10:93637072 [GRCh38]
Chr10:95396829 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) single nucleotide variant Achromatopsia [RCV000314224]|Cone dystrophy 4 [RCV000399098]|not provided [RCV001060326] Chr10:93640167 [GRCh38]
Chr10:95399924 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) single nucleotide variant Achromatopsia [RCV000360763]|Cone dystrophy 4 [RCV000406692] Chr10:93620654 [GRCh38]
Chr10:95380411 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) single nucleotide variant Achromatopsia [RCV000338325]|Cone dystrophy 4 [RCV000408180]|not provided [RCV001207957] Chr10:93626704 [GRCh38]
Chr10:95386461 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.939+4C>T single nucleotide variant Achromatopsia [RCV000339360]|Cone dystrophy 4 [RCV000377579]|not provided [RCV001230108] Chr10:93625653 [GRCh38]
Chr10:95385410 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.*26A>G single nucleotide variant Achromatopsia [RCV000359289]|Cone dystrophy 4 [RCV000264577] Chr10:93665444 [GRCh38]
Chr10:95425201 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) single nucleotide variant Achromatopsia [RCV000354990]|Cone dystrophy 4 [RCV000297834]|not provided [RCV001298792] Chr10:93620693 [GRCh38]
Chr10:95380450 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) single nucleotide variant Achromatopsia [RCV000399831]|Cone dystrophy 4 [RCV000339292] Chr10:93663141 [GRCh38]
Chr10:95422898 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.-21C>T single nucleotide variant Achromatopsia [RCV000363443]|Cone dystrophy 4 [RCV000392180]|not provided [RCV000767309] Chr10:93612705 [GRCh38]
Chr10:95372462 [GRCh37]
Chr10:10q23.33
uncertain significance|not provided
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) single nucleotide variant Achromatopsia [RCV000322796]|Cone dystrophy 4 [RCV000265430]|not provided [RCV001850594] Chr10:93612849 [GRCh38]
Chr10:95372606 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) single nucleotide variant Achromatopsia [RCV000298614]|Cone dystrophy 4 [RCV000399348]|not provided [RCV001230664] Chr10:93626686 [GRCh38]
Chr10:95386443 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) single nucleotide variant Achromatopsia [RCV000282504]|Cone dystrophy 4 [RCV000349132]|not provided [RCV002522172] Chr10:93640092 [GRCh38]
Chr10:95399849 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) single nucleotide variant Achromatopsia [RCV000261733]|Cone dystrophy 4 [RCV000319250]|Inborn genetic diseases [RCV002520644]|not provided [RCV001859791] Chr10:93620774 [GRCh38]
Chr10:95380531 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1312A>G (p.Thr438Ala) single nucleotide variant not provided [RCV001368485] Chr10:93635539 [GRCh38]
Chr10:95395296 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter) single nucleotide variant Cone dystrophy 4 [RCV003314438] Chr10:93635563 [GRCh38]
Chr10:95395320 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.2208+13_2208+17del deletion Achromatopsia [RCV000331987]|Cone-Rod Dystrophy, Recessive [RCV000388808]|not provided [RCV002056155] Chr10:93659176..93659180 [GRCh38]
Chr10:95418933..95418937 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.939+9A>G single nucleotide variant Achromatopsia [RCV000285559]|Cone dystrophy 4 [RCV000342897]|not provided [RCV002056154] Chr10:93625658 [GRCh38]
Chr10:95385415 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.219G>T (p.Gly73=) single nucleotide variant not provided [RCV000592333] Chr10:93612944 [GRCh38]
Chr10:95372701 [GRCh37]
Chr10:10q23.33
conflicting interpretations of pathogenicity|uncertain significance
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) single nucleotide variant Cone dystrophy 4 [RCV000735778] Chr10:93640176 [GRCh38]
Chr10:95399933 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.724-1G>T single nucleotide variant not provided [RCV000414475] Chr10:93621931 [GRCh38]
Chr10:95381688 [GRCh37]
Chr10:10q23.33
likely pathogenic
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1
pathogenic
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter) single nucleotide variant Achromatopsia [RCV000504786] Chr10:93620782 [GRCh38]
Chr10:95380539 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.864+1G>A single nucleotide variant Achromatopsia [RCV000504974]|Cone dystrophy 4 [RCV001353003] Chr10:93622073 [GRCh38]
Chr10:95381830 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1847+3_1847+6del microsatellite Achromatopsia [RCV000505030] Chr10:93641028..93641031 [GRCh38]
Chr10:95400785..95400788 [GRCh37]
Chr10:10q23.33
likely pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu) single nucleotide variant Achromatopsia [RCV000504665] Chr10:93620746 [GRCh38]
Chr10:95380503 [GRCh37]
Chr10:10q23.33
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 copy number loss See cases [RCV000511278] Chr10:93186527..95820286 [GRCh37]
Chr10:10q23.32-23.33
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) single nucleotide variant Achromatopsia [RCV001103365]|Cone dystrophy 4 [RCV000625373]|not provided [RCV000904771]|not specified [RCV001701416] Chr10:93663126 [GRCh38]
Chr10:95422883 [GRCh37]
Chr10:10q23.33
benign|likely benign
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2
pathogenic
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) single nucleotide variant Achromatopsia [RCV000664190] Chr10:93612936 [GRCh38]
Chr10:95372693 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.857del (p.Lys286fs) deletion Achromatopsia [RCV000664195] Chr10:93622064 [GRCh38]
Chr10:95381821 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) single nucleotide variant Achromatopsia 5 [RCV000761207]|Achromatopsia [RCV000664197]|not provided [RCV002529035] Chr10:93622044 [GRCh38]
Chr10:95381801 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic|uncertain significance
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) single nucleotide variant Achromatopsia [RCV000664200]|not provided [RCV002526931] Chr10:93659115 [GRCh38]
Chr10:95418872 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.497del (p.Asp166fs) deletion Achromatopsia [RCV000664194] Chr10:93620648 [GRCh38]
Chr10:95380405 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) single nucleotide variant Achromatopsia [RCV000664201] Chr10:93662096 [GRCh38]
Chr10:95421853 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) single nucleotide variant Achromatopsia [RCV000664191]|Cone dystrophy 4 [RCV001809677]|not provided [RCV001853831] Chr10:93621983 [GRCh38]
Chr10:95381740 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1269+1G>A single nucleotide variant Achromatopsia [RCV000664189]|not provided [RCV001060317] Chr10:93634908 [GRCh38]
Chr10:95394665 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) single nucleotide variant Achromatopsia [RCV000664198] Chr10:93640457 [GRCh38]
Chr10:95400214 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) single nucleotide variant Achromatopsia [RCV000664192]|not provided [RCV001044021] Chr10:93640166 [GRCh38]
Chr10:95399923 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.78del (p.Lys27fs) deletion Achromatopsia [RCV000664193] Chr10:93612802 [GRCh38]
Chr10:95372559 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) single nucleotide variant Achromatopsia [RCV000664196]|Cone dystrophy 4 [RCV002506388] Chr10:93613029 [GRCh38]
Chr10:95372786 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.86G>A (p.Arg29Gln) single nucleotide variant not provided [RCV000658572] Chr10:93612811 [GRCh38]
Chr10:95372568 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr) single nucleotide variant Achromatopsia [RCV000664202] Chr10:93662564 [GRCh38]
Chr10:95422321 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly) single nucleotide variant Achromatopsia [RCV000664203] Chr10:93662570 [GRCh38]
Chr10:95422327 [GRCh37]
Chr10:10q23.33
uncertain significance
GRCh37/hg19 10q23.33(chr10:95301338-95475336)x1 copy number loss not provided [RCV000683199] Chr10:95301338..95475336 [GRCh37]
Chr10:10q23.33
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg) single nucleotide variant Achromatopsia [RCV001003118] Chr10:93640182 [GRCh38]
Chr10:95399939 [GRCh37]
Chr10:10q23.33
likely pathogenic
GRCh37/hg19 10q23.33(chr10:95389457-95389979)x0 copy number loss not provided [RCV000737266] Chr10:95389457..95389979 [GRCh37]
Chr10:10q23.33
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_006204.4(PDE6C):c.2254G>A (p.Glu752Lys) single nucleotide variant Achromatopsia [RCV001591821]|not provided [RCV001882710] Chr10:93662104 [GRCh38]
Chr10:95421861 [GRCh37]
Chr10:10q23.33
likely pathogenic|uncertain significance
NM_006204.4(PDE6C):c.2284-3T>C single nucleotide variant not provided [RCV000994478] Chr10:93662557 [GRCh38]
Chr10:95422314 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1004C>T (p.Pro335Leu) single nucleotide variant not provided [RCV001056781] Chr10:93626704 [GRCh38]
Chr10:95386461 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.733T>G (p.Trp245Gly) single nucleotide variant not provided [RCV001044235] Chr10:93621941 [GRCh38]
Chr10:95381698 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1474G>A (p.Ala492Thr) single nucleotide variant not provided [RCV001040594] Chr10:93637055 [GRCh38]
Chr10:95396812 [GRCh37]
Chr10:10q23.33
uncertain significance
NC_000010.11:g.(?_93655760)_(93700106_?)del deletion not provided [RCV001031365] Chr10:95415517..95459863 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1434T>G (p.Asn478Lys) single nucleotide variant not provided [RCV001041436] Chr10:93637015 [GRCh38]
Chr10:95396772 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer) deletion PDE6C-related condition [RCV003413900]|Retinal dystrophy [RCV001074364]|not provided [RCV001241959] Chr10:93662578..93662579 [GRCh38]
Chr10:95422335..95422336 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.1083_1086dup (p.Asn363fs) duplication Retinal dystrophy [RCV001074365] Chr10:93629268..93629269 [GRCh38]
Chr10:95389025..95389026 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.481-4T>A single nucleotide variant Retinal dystrophy [RCV001074441]|not provided [RCV001474695] Chr10:93620628 [GRCh38]
Chr10:95380385 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.430G>T (p.Gly144Cys) single nucleotide variant not provided [RCV001043322] Chr10:93613155 [GRCh38]
Chr10:95372912 [GRCh37]
Chr10:10q23.33
uncertain significance
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1
likely pathogenic
NM_006204.4(PDE6C):c.300G>T (p.Leu100=) single nucleotide variant not provided [RCV000929408] Chr10:93613025 [GRCh38]
Chr10:95372782 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1854G>A (p.Thr618=) single nucleotide variant not provided [RCV000903201] Chr10:93645966 [GRCh38]
Chr10:95405723 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter) single nucleotide variant Cone dystrophy 4 [RCV001029762] Chr10:93613160 [GRCh38]
Chr10:95372917 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1414-9A>C single nucleotide variant not provided [RCV000893390] Chr10:93636986 [GRCh38]
Chr10:95396743 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.2036+2T>G single nucleotide variant Cone dystrophy 4 [RCV001029756] Chr10:93655862 [GRCh38]
Chr10:95415619 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1346A>G (p.Lys449Arg) single nucleotide variant not provided [RCV000797148] Chr10:93635573 [GRCh38]
Chr10:95395330 [GRCh37]
Chr10:10q23.33
uncertain significance
GRCh37/hg19 10q23.33(chr10:95421794-95473856)x1 copy number loss not provided [RCV000849727] Chr10:95421794..95473856 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1832A>G (p.Asn611Ser) single nucleotide variant not provided [RCV001054648] Chr10:93641014 [GRCh38]
Chr10:95400771 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2497C>G (p.Gln833Glu) single nucleotide variant not provided [RCV000994479] Chr10:93663157 [GRCh38]
Chr10:95422914 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.25G>A (p.Val9Met) single nucleotide variant not provided [RCV001055092] Chr10:93612750 [GRCh38]
Chr10:95372507 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.800C>T (p.Thr267Met) single nucleotide variant not provided [RCV001246551] Chr10:93622008 [GRCh38]
Chr10:95381765 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.2139T>G (p.Ile713Met) single nucleotide variant not provided [RCV001248392] Chr10:93659003 [GRCh38]
Chr10:95418760 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2144+5del deletion not provided [RCV001059569] Chr10:93659012 [GRCh38]
Chr10:95418769 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2098G>A (p.Ala700Thr) single nucleotide variant not provided [RCV001230107] Chr10:93658962 [GRCh38]
Chr10:95418719 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.311G>A (p.Arg104Gln) single nucleotide variant not provided [RCV001239156] Chr10:93613036 [GRCh38]
Chr10:95372793 [GRCh37]
Chr10:10q23.33
pathogenic|uncertain significance
NM_006204.4(PDE6C):c.1120-9C>T single nucleotide variant not provided [RCV001226847] Chr10:93634749 [GRCh38]
Chr10:95394506 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1072-1G>C single nucleotide variant not provided [RCV001243066] Chr10:93629257 [GRCh38]
Chr10:95389014 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.238G>A (p.Val80Ile) single nucleotide variant not provided [RCV001237875] Chr10:93612963 [GRCh38]
Chr10:95372720 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.321A>G (p.Ile107Met) single nucleotide variant not provided [RCV001238292] Chr10:93613046 [GRCh38]
Chr10:95372803 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1097C>A (p.Ala366Glu) single nucleotide variant not provided [RCV001238373] Chr10:93629283 [GRCh38]
Chr10:95389040 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1339A>G (p.Asn447Asp) single nucleotide variant not provided [RCV001052369] Chr10:93635566 [GRCh38]
Chr10:95395323 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.480G>A (p.Lys160=) single nucleotide variant not provided [RCV001238567] Chr10:93613205 [GRCh38]
Chr10:95372962 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.551T>A (p.Ile184Asn) single nucleotide variant not provided [RCV001232673] Chr10:93620702 [GRCh38]
Chr10:95380459 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.910T>A (p.Tyr304Asn) single nucleotide variant not provided [RCV001230265] Chr10:93625620 [GRCh38]
Chr10:95385377 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter) single nucleotide variant Cone dystrophy 4 [RCV000988436]|not provided [RCV001858692] Chr10:93659151 [GRCh38]
Chr10:95418908 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser) single nucleotide variant Achromatopsia [RCV001108270]|Cone dystrophy 4 [RCV001108271]|not provided [RCV001438555] Chr10:93613191 [GRCh38]
Chr10:95372948 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1557C>T (p.His519=) single nucleotide variant Achromatopsia [RCV001108448]|Cone dystrophy 4 [RCV001108449]|not provided [RCV001466988] Chr10:93640144 [GRCh38]
Chr10:95399901 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys) single nucleotide variant Achromatopsia [RCV001108536]|Cone dystrophy 4 [RCV001108535] Chr10:93662119 [GRCh38]
Chr10:95421876 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2473G>T (p.Val825Phe) single nucleotide variant not provided [RCV001061687] Chr10:93663133 [GRCh38]
Chr10:95422890 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.679C>T (p.His227Tyr) single nucleotide variant not provided [RCV001247737] Chr10:93620936 [GRCh38]
Chr10:95380693 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.-7C>A single nucleotide variant Achromatopsia [RCV001102975]|Cone dystrophy 4 [RCV001102976] Chr10:93612719 [GRCh38]
Chr10:95372476 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.792G>A (p.Ala264=) single nucleotide variant Achromatopsia [RCV001106143]|Cone dystrophy 4 [RCV001106144]|not provided [RCV001518678] Chr10:93622000 [GRCh38]
Chr10:95381757 [GRCh37]
Chr10:10q23.33
benign|uncertain significance
NM_006204.4(PDE6C):c.873C>T (p.Tyr291=) single nucleotide variant Achromatopsia [RCV001108354]|Cone dystrophy 4 [RCV001106145]|not provided [RCV001491424] Chr10:93625583 [GRCh38]
Chr10:95385340 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1101T>G (p.Asp367Glu) single nucleotide variant not provided [RCV001230451] Chr10:93629287 [GRCh38]
Chr10:95389044 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.480+1del deletion Cone dystrophy 4 [RCV003108008] Chr10:93613205 [GRCh38]
Chr10:95372962 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1120-60T>C single nucleotide variant not provided [RCV001685826] Chr10:93634698 [GRCh38]
Chr10:95394455 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.2219T>C (p.Met740Thr) single nucleotide variant not provided [RCV001700915] Chr10:93662069 [GRCh38]
Chr10:95421826 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.723+53G>A single nucleotide variant not provided [RCV001650708] Chr10:93621033 [GRCh38]
Chr10:95380790 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.2187G>A (p.Lys729=) single nucleotide variant not provided [RCV000963573] Chr10:93659146 [GRCh38]
Chr10:95418903 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.431G>C (p.Gly144Ala) single nucleotide variant not provided [RCV001222399] Chr10:93613156 [GRCh38]
Chr10:95372913 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2081T>C (p.Met694Thr) single nucleotide variant not provided [RCV001230175] Chr10:93658945 [GRCh38]
Chr10:95418702 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2410G>A (p.Gly804Ser) single nucleotide variant not provided [RCV001202540] Chr10:93663070 [GRCh38]
Chr10:95422827 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.537G>T (p.Leu179=) single nucleotide variant Achromatopsia [RCV001103075]|Cone dystrophy 4 [RCV001103076]|not provided [RCV002555005] Chr10:93620688 [GRCh38]
Chr10:95380445 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1935+5G>A single nucleotide variant not provided [RCV001228128] Chr10:93646052 [GRCh38]
Chr10:95405809 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.687C>G (p.Thr229=) single nucleotide variant not provided [RCV000935861] Chr10:93620944 [GRCh38]
Chr10:95380701 [GRCh37]
Chr10:10q23.33
likely benign
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 copy number loss not provided [RCV002472645] Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33
pathogenic
NM_006204.4(PDE6C):c.1630-4T>C single nucleotide variant Achromatopsia [RCV001103271]|Cone dystrophy 4 [RCV001108452]|not provided [RCV001491645] Chr10:93640446 [GRCh38]
Chr10:95400203 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn) single nucleotide variant Achromatopsia [RCV001105280]|Cone dystrophy 4 [RCV001103366]|not provided [RCV001213628] Chr10:93663126 [GRCh38]
Chr10:95422883 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1935+13C>T single nucleotide variant Achromatopsia [RCV001105186]|Cone dystrophy 4 [RCV001103273]|not provided [RCV001509651] Chr10:93646060 [GRCh38]
Chr10:95405817 [GRCh37]
Chr10:10q23.33
benign|uncertain significance
NM_006204.4(PDE6C):c.490T>C (p.Phe164Leu) single nucleotide variant Cone dystrophy [RCV001003117] Chr10:93620641 [GRCh38]
Chr10:95380398 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser) single nucleotide variant Achromatopsia [RCV001105102]|Cone dystrophy 4 [RCV001106228]|not provided [RCV002555036] Chr10:93635534 [GRCh38]
Chr10:95395291 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met) single nucleotide variant Achromatopsia [RCV001106315]|Cone dystrophy 4 [RCV001106316]|not provided [RCV001482817] Chr10:93658951 [GRCh38]
Chr10:95418708 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.1483-1G>T single nucleotide variant not provided [RCV001070604] Chr10:93640069 [GRCh38]
Chr10:95399826 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys) single nucleotide variant Achromatopsia [RCV001106046]|Cone dystrophy 4 [RCV001106045]|not provided [RCV001856424] Chr10:93613008 [GRCh38]
Chr10:95372765 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.306G>A (p.Arg102=) single nucleotide variant Achromatopsia [RCV001106047]|Cone dystrophy 4 [RCV001106048]|not provided [RCV001482523] Chr10:93613031 [GRCh38]
Chr10:95372788 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.767A>T (p.Asp256Val) single nucleotide variant not provided [RCV001055439] Chr10:93621975 [GRCh38]
Chr10:95381732 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2304A>G (p.Lys768=) single nucleotide variant Achromatopsia [RCV001108537]|Cone dystrophy 4 [RCV001108538] Chr10:93662580 [GRCh38]
Chr10:95422337 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1308T>G (p.Thr436=) single nucleotide variant Achromatopsia [RCV001106230]|Cone dystrophy 4 [RCV001106229]|not provided [RCV002067786] Chr10:93635535 [GRCh38]
Chr10:95395292 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.664A>G (p.Ile222Val) single nucleotide variant not provided [RCV001058858] Chr10:93620921 [GRCh38]
Chr10:95380678 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1120-6T>C single nucleotide variant Achromatopsia [RCV001105101]|Cone dystrophy 4 [RCV001103184]|not provided [RCV001521733] Chr10:93634752 [GRCh38]
Chr10:95394509 [GRCh37]
Chr10:10q23.33
benign|uncertain significance
NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu) single nucleotide variant Achromatopsia [RCV001103364]|Cone dystrophy 4 [RCV001103363] Chr10:93663046 [GRCh38]
Chr10:95422803 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.558G>A (p.Val186=) single nucleotide variant Achromatopsia [RCV001103077]|Cone dystrophy 4 [RCV001104986]|not provided [RCV001228042] Chr10:93620709 [GRCh38]
Chr10:95380466 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.480G>T (p.Lys160Asn) single nucleotide variant Achromatopsia [RCV001591819] Chr10:93613205 [GRCh38]
Chr10:95372962 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1292G>A (p.Trp431Ter) single nucleotide variant not provided [RCV001064803] Chr10:93635519 [GRCh38]
Chr10:95395276 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2159C>T (p.Thr720Met) single nucleotide variant not provided [RCV001208758] Chr10:93659118 [GRCh38]
Chr10:95418875 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic|uncertain significance
NM_006204.4(PDE6C):c.2425del (p.Arg809fs) deletion Retinal dystrophy [RCV001075121] Chr10:93663085 [GRCh38]
Chr10:95422842 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.736T>C (p.Ser246Pro) single nucleotide variant Retinal dystrophy [RCV001075711]|not provided [RCV001862627] Chr10:93621944 [GRCh38]
Chr10:95381701 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.481-1G>A single nucleotide variant Retinal dystrophy [RCV001075713] Chr10:93620631 [GRCh38]
Chr10:95380388 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1413+9G>T single nucleotide variant not provided [RCV001041459] Chr10:93635649 [GRCh38]
Chr10:95395406 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.769G>A (p.Val257Ile) single nucleotide variant not provided [RCV001041884] Chr10:93621977 [GRCh38]
Chr10:95381734 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1765G>T (p.Asp589Tyr) single nucleotide variant not provided [RCV001208728] Chr10:93640947 [GRCh38]
Chr10:95400704 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2367G>A (p.Lys789=) single nucleotide variant Achromatopsia [RCV001108539]|Cone dystrophy 4 [RCV001103362] Chr10:93662643 [GRCh38]
Chr10:95422400 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1979C>G (p.Thr660Arg) single nucleotide variant not provided [RCV001044080] Chr10:93655803 [GRCh38]
Chr10:95415560 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2355T>G (p.Thr785=) single nucleotide variant not provided [RCV001171775] Chr10:93662631 [GRCh38]
Chr10:95422388 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1848-3T>C single nucleotide variant not provided [RCV001205250] Chr10:93645957 [GRCh38]
Chr10:95405714 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2126_2129del (p.Thr709fs) microsatellite not provided [RCV001208079] Chr10:93658986..93658989 [GRCh38]
Chr10:95418743..95418746 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.36C>A (p.Tyr12Ter) single nucleotide variant not provided [RCV001232675] Chr10:93612761 [GRCh38]
Chr10:95372518 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2144+5G>A single nucleotide variant not provided [RCV001219557] Chr10:93659013 [GRCh38]
Chr10:95418770 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2069C>T (p.Ala690Val) single nucleotide variant not provided [RCV001235501] Chr10:93658933 [GRCh38]
Chr10:95418690 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.553G>A (p.Val185Met) single nucleotide variant not provided [RCV001246202] Chr10:93620704 [GRCh38]
Chr10:95380461 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1766A>G (p.Asp589Gly) single nucleotide variant not provided [RCV001246317] Chr10:93640948 [GRCh38]
Chr10:95400705 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.*64A>C single nucleotide variant Achromatopsia [RCV001106412]|Cone dystrophy 4 [RCV001106413] Chr10:93665482 [GRCh38]
Chr10:95425239 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1771G>A (p.Glu591Lys) single nucleotide variant not provided [RCV001035830] Chr10:93640953 [GRCh38]
Chr10:95400710 [GRCh37]
Chr10:10q23.33
pathogenic|uncertain significance
GRCh37/hg19 10q23.33(chr10:95234481-95431148)x1 copy number loss not provided [RCV001006347] Chr10:95234481..95431148 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.934G>A (p.Gly312Ser) single nucleotide variant not provided [RCV001211621] Chr10:93625644 [GRCh38]
Chr10:95385401 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1756T>C (p.Tyr586His) single nucleotide variant Retinal dystrophy [RCV001073906] Chr10:93640938 [GRCh38]
Chr10:95400695 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1250A>G (p.His417Arg) single nucleotide variant Retinal dystrophy [RCV001073908] Chr10:93634888 [GRCh38]
Chr10:95394645 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.251T>C (p.Leu84Pro) single nucleotide variant Retinal dystrophy [RCV001073910] Chr10:93612976 [GRCh38]
Chr10:95372733 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser) single nucleotide variant Achromatopsia [RCV001108269]|Cone dystrophy 4 [RCV001108268]|not provided [RCV001519424]|not specified [RCV002249692] Chr10:93613138 [GRCh38]
Chr10:95372895 [GRCh37]
Chr10:10q23.33
benign|uncertain significance
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp) single nucleotide variant Achromatopsia [RCV001108450]|Cone dystrophy 4 [RCV001108451] Chr10:93640216 [GRCh38]
Chr10:95399973 [GRCh37]
Chr10:10q23.33
uncertain significance
NC_000010.11:g.(?_93161309)_(93797823_?)del deletion Autosomal dominant epilepsy with auditory features [RCV001862461]|Epilepsy, familial temporal lobe, 1 [RCV001033707] Chr10:94921066..95557580 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2486A>C (p.Glu829Ala) single nucleotide variant not provided [RCV001041896] Chr10:93663146 [GRCh38]
Chr10:95422903 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.669C>T (p.Ile223=) single nucleotide variant Achromatopsia [RCV001104988]|Cone dystrophy 4 [RCV001104987] Chr10:93620926 [GRCh38]
Chr10:95380683 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.442C>T (p.His148Tyr) single nucleotide variant not provided [RCV001203407] Chr10:93613167 [GRCh38]
Chr10:95372924 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.396A>C (p.Lys132Asn) single nucleotide variant not provided [RCV001349189] Chr10:93613121 [GRCh38]
Chr10:95372878 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.808T>G (p.Ser270Ala) single nucleotide variant not provided [RCV001303940] Chr10:93622016 [GRCh38]
Chr10:95381773 [GRCh37]
Chr10:10q23.33
uncertain significance
NC_000010.10:g.(?_95421816)_(95422935_?)del deletion not provided [RCV001314367] Chr10:95421816..95422935 [GRCh37]
Chr10:10q23.33
likely pathogenic|uncertain significance
NM_006204.4(PDE6C):c.2209-9C>A single nucleotide variant not provided [RCV001300408] Chr10:93662050 [GRCh38]
Chr10:95421807 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1174A>G (p.Ile392Val) single nucleotide variant not provided [RCV001300653] Chr10:93634812 [GRCh38]
Chr10:95394569 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.660_661del (p.Ser221fs) microsatellite Cone dystrophy 4 [RCV001336924] Chr10:93620914..93620915 [GRCh38]
Chr10:95380671..95380672 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.827G>A (p.Arg276Gln) single nucleotide variant not provided [RCV001316755] Chr10:93622035 [GRCh38]
Chr10:95381792 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1504C>G (p.Arg502Gly) single nucleotide variant not provided [RCV001325130] Chr10:93640091 [GRCh38]
Chr10:95399848 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.254A>C (p.Gln85Pro) single nucleotide variant not provided [RCV001317599] Chr10:93612979 [GRCh38]
Chr10:95372736 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2448TGA[3] (p.Asp817dup) microsatellite not provided [RCV001339892] Chr10:93663107..93663108 [GRCh38]
Chr10:95422864..95422865 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.694A>G (p.Met232Val) single nucleotide variant not provided [RCV001303639] Chr10:93620951 [GRCh38]
Chr10:95380708 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.304C>G (p.Arg102Gly) single nucleotide variant not provided [RCV001348076] Chr10:93613029 [GRCh38]
Chr10:95372786 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2090AAG[2] (p.Glu699del) microsatellite not provided [RCV001317909] Chr10:93658953..93658955 [GRCh38]
Chr10:95418710..95418712 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1599T>G (p.Asn533Lys) single nucleotide variant not provided [RCV001312559] Chr10:93640186 [GRCh38]
Chr10:95399943 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1673C>G (p.Ala558Gly) single nucleotide variant not provided [RCV001316028] Chr10:93640493 [GRCh38]
Chr10:95400250 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1285C>A (p.Leu429Ile) single nucleotide variant not provided [RCV001302358] Chr10:93635512 [GRCh38]
Chr10:95395269 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2048T>C (p.Met683Thr) single nucleotide variant not provided [RCV001343936] Chr10:93658912 [GRCh38]
Chr10:95418669 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2284-10C>A single nucleotide variant Cone dystrophy 4 [RCV001535720]|not provided [RCV001295069] Chr10:93662550 [GRCh38]
Chr10:95422307 [GRCh37]
Chr10:10q23.33
uncertain significance|not provided
NM_006204.4(PDE6C):c.1870del (p.Leu624fs) deletion not provided [RCV001383098] Chr10:93645982 [GRCh38]
Chr10:95405739 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.494C>A (p.Ser165Tyr) single nucleotide variant not provided [RCV001308155] Chr10:93620645 [GRCh38]
Chr10:95380402 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.942A>C (p.Glu314Asp) single nucleotide variant not provided [RCV001297909] Chr10:93626642 [GRCh38]
Chr10:95386399 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2540G>A (p.Gly847Asp) single nucleotide variant not provided [RCV001369345] Chr10:93665381 [GRCh38]
Chr10:95425138 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.503T>C (p.Met168Thr) single nucleotide variant not provided [RCV001314988] Chr10:93620654 [GRCh38]
Chr10:95380411 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1536T>C (p.Ser512=) single nucleotide variant not provided [RCV001421444] Chr10:93640123 [GRCh38]
Chr10:95399880 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.24C>G (p.Ala8=) single nucleotide variant not provided [RCV001413708] Chr10:93612749 [GRCh38]
Chr10:95372506 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2202A>C (p.Gln734His) single nucleotide variant not provided [RCV001370080] Chr10:93659161 [GRCh38]
Chr10:95418918 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1738-13G>T single nucleotide variant not provided [RCV001433968] Chr10:93640907 [GRCh38]
Chr10:95400664 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.980G>A (p.Gly327Glu) single nucleotide variant not provided [RCV001373606] Chr10:93626680 [GRCh38]
Chr10:95386437 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2222T>C (p.Val741Ala) single nucleotide variant not provided [RCV001321595] Chr10:93662072 [GRCh38]
Chr10:95421829 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.791C>T (p.Ala264Val) single nucleotide variant not provided [RCV001299124] Chr10:93621999 [GRCh38]
Chr10:95381756 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1759T>C (p.Tyr587His) single nucleotide variant not provided [RCV001344781] Chr10:93640941 [GRCh38]
Chr10:95400698 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.372G>T (p.Glu124Asp) single nucleotide variant not provided [RCV001346662] Chr10:93613097 [GRCh38]
Chr10:95372854 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1177G>A (p.Val393Ile) single nucleotide variant not provided [RCV001342270] Chr10:93634815 [GRCh38]
Chr10:95394572 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1935+1G>T single nucleotide variant Cone dystrophy 4 [RCV001294220] Chr10:93646048 [GRCh38]
Chr10:95405805 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.160A>C (p.Thr54Pro) single nucleotide variant not provided [RCV001298136] Chr10:93612885 [GRCh38]
Chr10:95372642 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1482+3_1482+6del deletion not provided [RCV001320777] Chr10:93637064..93637067 [GRCh38]
Chr10:95396821..95396824 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1870C>A (p.Leu624Ile) single nucleotide variant not provided [RCV001327767] Chr10:93645982 [GRCh38]
Chr10:95405739 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1586T>G (p.Phe529Cys) single nucleotide variant not provided [RCV001341282] Chr10:93640173 [GRCh38]
Chr10:95399930 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.130G>T (p.Val44Phe) single nucleotide variant not provided [RCV001320791] Chr10:93612855 [GRCh38]
Chr10:95372612 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.793C>G (p.Leu265Val) single nucleotide variant not provided [RCV001345289] Chr10:93622001 [GRCh38]
Chr10:95381758 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1504C>T (p.Arg502Cys) single nucleotide variant not provided [RCV001323544] Chr10:93640091 [GRCh38]
Chr10:95399848 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.723+5A>C single nucleotide variant not provided [RCV001298684] Chr10:93620985 [GRCh38]
Chr10:95380742 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.436G>A (p.Ala146Thr) single nucleotide variant not provided [RCV001322563] Chr10:93613161 [GRCh38]
Chr10:95372918 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1249C>T (p.His417Tyr) single nucleotide variant not provided [RCV001295045] Chr10:93634887 [GRCh38]
Chr10:95394644 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1529G>A (p.Arg510His) single nucleotide variant not provided [RCV001368006] Chr10:93640116 [GRCh38]
Chr10:95399873 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1379_1380delinsTG (p.Thr460Met) indel not provided [RCV001339544] Chr10:93635606..93635607 [GRCh38]
Chr10:95395363..95395364 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1956C>A (p.Asn652Lys) single nucleotide variant not provided [RCV001366180] Chr10:93655780 [GRCh38]
Chr10:95415537 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.695T>C (p.Met232Thr) single nucleotide variant not provided [RCV001367036] Chr10:93620952 [GRCh38]
Chr10:95380709 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.947A>C (p.Asn316Thr) single nucleotide variant not provided [RCV001339533] Chr10:93626647 [GRCh38]
Chr10:95386404 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2481A>G (p.Glu827=) single nucleotide variant not provided [RCV001486883] Chr10:93663141 [GRCh38]
Chr10:95422898 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1072-4C>T single nucleotide variant not provided [RCV001498879] Chr10:93629254 [GRCh38]
Chr10:95389011 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1584G>A (p.Leu528=) single nucleotide variant not provided [RCV001457538] Chr10:93640171 [GRCh38]
Chr10:95399928 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1847+15G>A single nucleotide variant not provided [RCV001436200] Chr10:93641044 [GRCh38]
Chr10:95400801 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2562A>C (p.Thr854=) single nucleotide variant not provided [RCV001500410] Chr10:93665403 [GRCh38]
Chr10:95425160 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.715A>C (p.Arg239=) single nucleotide variant not provided [RCV001426295] Chr10:93620972 [GRCh38]
Chr10:95380729 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.634-20T>C single nucleotide variant not provided [RCV001500423] Chr10:93620871 [GRCh38]
Chr10:95380628 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1995C>T (p.Phe665=) single nucleotide variant not provided [RCV001463290] Chr10:93655819 [GRCh38]
Chr10:95415576 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.459T>C (p.His153=) single nucleotide variant not provided [RCV001493296] Chr10:93613184 [GRCh38]
Chr10:95372941 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.634-9C>T single nucleotide variant not provided [RCV001487993] Chr10:93620882 [GRCh38]
Chr10:95380639 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2283+1G>T single nucleotide variant Cone dystrophy 4 [RCV002250994] Chr10:93662134 [GRCh38]
Chr10:95421891 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.279T>G (p.Ala93=) single nucleotide variant not provided [RCV001409721] Chr10:93613004 [GRCh38]
Chr10:95372761 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1761C>T (p.Tyr587=) single nucleotide variant not provided [RCV001407197] Chr10:93640943 [GRCh38]
Chr10:95400700 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1407C>G (p.Ser469=) single nucleotide variant not provided [RCV001446854] Chr10:93635634 [GRCh38]
Chr10:95395391 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2349T>C (p.Val783=) single nucleotide variant not provided [RCV001428023] Chr10:93662625 [GRCh38]
Chr10:95422382 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1986T>C (p.Ile662=) single nucleotide variant not provided [RCV001446748] Chr10:93655810 [GRCh38]
Chr10:95415567 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1629+8G>C single nucleotide variant not provided [RCV001425818] Chr10:93640224 [GRCh38]
Chr10:95399981 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1008G>A (p.Thr336=) single nucleotide variant not provided [RCV001439917] Chr10:93626808 [GRCh38]
Chr10:95386565 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.702T>C (p.Asn234=) single nucleotide variant not provided [RCV001431256] Chr10:93620959 [GRCh38]
Chr10:95380716 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1707C>T (p.Asn569=) single nucleotide variant not provided [RCV001407985] Chr10:93640527 [GRCh38]
Chr10:95400284 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1120-8G>A single nucleotide variant not provided [RCV001408653] Chr10:93634750 [GRCh38]
Chr10:95394507 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1770C>T (p.Leu590=) single nucleotide variant not provided [RCV001448079] Chr10:93640952 [GRCh38]
Chr10:95400709 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter) single nucleotide variant PDE6C-related condition [RCV003399199]|not provided [RCV001381939] Chr10:93640489 [GRCh38]
Chr10:95400246 [GRCh37]
Chr10:10q23.33
pathogenic|likely pathogenic
NM_006204.4(PDE6C):c.1287T>G (p.Leu429=) single nucleotide variant not provided [RCV001432154] Chr10:93635514 [GRCh38]
Chr10:95395271 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2160G>A (p.Thr720=) single nucleotide variant not provided [RCV001445746] Chr10:93659119 [GRCh38]
Chr10:95418876 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1071+11G>C single nucleotide variant not provided [RCV001448212] Chr10:93626882 [GRCh38]
Chr10:95386639 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1512A>G (p.Ala504=) single nucleotide variant not provided [RCV001440691] Chr10:93640099 [GRCh38]
Chr10:95399856 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2001C>T (p.Val667=) single nucleotide variant not provided [RCV001443287] Chr10:93655825 [GRCh38]
Chr10:95415582 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.865-4C>T single nucleotide variant not provided [RCV001427527] Chr10:93625571 [GRCh38]
Chr10:95385328 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1869A>G (p.Arg623=) single nucleotide variant not provided [RCV001409113] Chr10:93645981 [GRCh38]
Chr10:95405738 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.267C>T (p.His89=) single nucleotide variant not provided [RCV001505884] Chr10:93612992 [GRCh38]
Chr10:95372749 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1119+62G>A single nucleotide variant not provided [RCV001668828] Chr10:93629367 [GRCh38]
Chr10:95389124 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1630-8del deletion not provided [RCV001482156] Chr10:93640441 [GRCh38]
Chr10:95400198 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2209-133G>C single nucleotide variant not provided [RCV001717262] Chr10:93661926 [GRCh38]
Chr10:95421683 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1561T>C (p.Leu521=) single nucleotide variant not provided [RCV001455128] Chr10:93640148 [GRCh38]
Chr10:95399905 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1317C>T (p.Tyr439=) single nucleotide variant not provided [RCV001497141] Chr10:93635544 [GRCh38]
Chr10:95395301 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2209-6T>C single nucleotide variant not provided [RCV001496651] Chr10:93662053 [GRCh38]
Chr10:95421810 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1449C>T (p.Asp483=) single nucleotide variant not provided [RCV001480231] Chr10:93637030 [GRCh38]
Chr10:95396787 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.546C>A (p.Thr182=) single nucleotide variant not provided [RCV001460436] Chr10:93620697 [GRCh38]
Chr10:95380454 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2088G>A (p.Thr696=) single nucleotide variant not provided [RCV001467598] Chr10:93658952 [GRCh38]
Chr10:95418709 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1092C>T (p.Ala364=) single nucleotide variant not provided [RCV001472214] Chr10:93629278 [GRCh38]
Chr10:95389035 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1278A>G (p.Thr426=) single nucleotide variant not provided [RCV001399465] Chr10:93635505 [GRCh38]
Chr10:95395262 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1007C>T (p.Thr336Met) single nucleotide variant not provided [RCV001494811] Chr10:93626807 [GRCh38]
Chr10:95386564 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1270-8_1270-7inv inversion not provided [RCV001450962] Chr10:93635489..93635490 [GRCh38]
Chr10:95395246..95395247 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2034C>T (p.Phe678=) single nucleotide variant not provided [RCV001405842] Chr10:93655858 [GRCh38]
Chr10:95415615 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1269+17G>A single nucleotide variant not provided [RCV001523047] Chr10:93634924 [GRCh38]
Chr10:95394681 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1860A>G (p.Pro620=) single nucleotide variant not provided [RCV001482207] Chr10:93645972 [GRCh38]
Chr10:95405729 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.507C>T (p.Asp169=) single nucleotide variant not provided [RCV001429496] Chr10:93620658 [GRCh38]
Chr10:95380415 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV001517071] Chr10:93613040 [GRCh38]
Chr10:95372797 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1269+19T>C single nucleotide variant not provided [RCV001458977] Chr10:93634926 [GRCh38]
Chr10:95394683 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.634-10C>T single nucleotide variant not provided [RCV001420026] Chr10:93620881 [GRCh38]
Chr10:95380638 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2477T>C (p.Ile826Thr) single nucleotide variant not provided [RCV001478804] Chr10:93663137 [GRCh38]
Chr10:95422894 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1630-9T>C single nucleotide variant not provided [RCV001425941] Chr10:93640441 [GRCh38]
Chr10:95400198 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2274A>G (p.Gln758=) single nucleotide variant not provided [RCV001435166] Chr10:93662124 [GRCh38]
Chr10:95421881 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1332G>A (p.Lys444=) single nucleotide variant not provided [RCV001457962] Chr10:93635559 [GRCh38]
Chr10:95395316 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2445del (p.Ala816fs) deletion not provided [RCV001726825] Chr10:93663105 [GRCh38]
Chr10:95422862 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2424C>G (p.Asn808Lys) single nucleotide variant Cone dystrophy 4 [RCV001808021] Chr10:93663084 [GRCh38]
Chr10:95422841 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1744A>T (p.Arg582Ter) single nucleotide variant Abnormality of the eye [RCV001814390] Chr10:93640926 [GRCh38]
Chr10:95400683 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1489G>T (p.Asp497Tyr) single nucleotide variant not provided [RCV001929150] Chr10:93640076 [GRCh38]
Chr10:95399833 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1706A>G (p.Asn569Ser) single nucleotide variant not provided [RCV002008889] Chr10:93640526 [GRCh38]
Chr10:95400283 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1858C>G (p.Pro620Ala) single nucleotide variant not provided [RCV001971631] Chr10:93645970 [GRCh38]
Chr10:95405727 [GRCh37]
Chr10:10q23.33
uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) copy number loss not specified [RCV002052882] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1
pathogenic
NM_006204.4(PDE6C):c.2524G>A (p.Glu842Lys) single nucleotide variant not provided [RCV002008338] Chr10:93665365 [GRCh38]
Chr10:95425122 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.481-10T>A single nucleotide variant not provided [RCV001864181] Chr10:93620622 [GRCh38]
Chr10:95380379 [GRCh37]
Chr10:10q23.33
likely benign|uncertain significance
NM_006204.4(PDE6C):c.889A>G (p.Lys297Glu) single nucleotide variant not provided [RCV001971312] Chr10:93625599 [GRCh38]
Chr10:95385356 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.265C>T (p.His89Tyr) single nucleotide variant Inborn genetic diseases [RCV003365511]|not provided [RCV001896049] Chr10:93612990 [GRCh38]
Chr10:95372747 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.637T>C (p.Phe213Leu) single nucleotide variant not provided [RCV001947132] Chr10:93620894 [GRCh38]
Chr10:95380651 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.791C>A (p.Ala264Glu) single nucleotide variant not provided [RCV001914552] Chr10:93621999 [GRCh38]
Chr10:95381756 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2513A>G (p.Glu838Gly) single nucleotide variant not provided [RCV001874428] Chr10:93663173 [GRCh38]
Chr10:95422930 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.247G>A (p.Ala83Thr) single nucleotide variant Inborn genetic diseases [RCV002657697]|not provided [RCV002025517] Chr10:93612972 [GRCh38]
Chr10:95372729 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2498AAG[1] (p.Glu834del) microsatellite not provided [RCV001895611] Chr10:93663158..93663160 [GRCh38]
Chr10:95422915..95422917 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1455T>G (p.Cys485Trp) single nucleotide variant not provided [RCV001890713] Chr10:93637036 [GRCh38]
Chr10:95396793 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.833C>T (p.Ser278Phe) single nucleotide variant not provided [RCV002023163] Chr10:93622041 [GRCh38]
Chr10:95381798 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.874G>A (p.Asp292Asn) single nucleotide variant not provided [RCV001893001] Chr10:93625584 [GRCh38]
Chr10:95385341 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1849T>A (p.Ser617Thr) single nucleotide variant not provided [RCV001963993] Chr10:93645961 [GRCh38]
Chr10:95405718 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.730A>G (p.Met244Val) single nucleotide variant not provided [RCV001911571] Chr10:93621938 [GRCh38]
Chr10:95381695 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1156A>C (p.Asn386His) single nucleotide variant not provided [RCV001909538] Chr10:93634794 [GRCh38]
Chr10:95394551 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.878A>G (p.Glu293Gly) single nucleotide variant not provided [RCV001965182] Chr10:93625588 [GRCh38]
Chr10:95385345 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.339G>T (p.Arg113Ser) single nucleotide variant not provided [RCV001984456] Chr10:93613064 [GRCh38]
Chr10:95372821 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2136_2140del (p.Glu712fs) deletion not provided [RCV001909424] Chr10:93658999..93659003 [GRCh38]
Chr10:95418756..95418760 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.323C>T (p.Pro108Leu) single nucleotide variant not provided [RCV001985936] Chr10:93613048 [GRCh38]
Chr10:95372805 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.732G>A (p.Met244Ile) single nucleotide variant not provided [RCV001908238] Chr10:93621940 [GRCh38]
Chr10:95381697 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2072G>A (p.Cys691Tyr) single nucleotide variant not provided [RCV001945479] Chr10:93658936 [GRCh38]
Chr10:95418693 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2284-2A>C single nucleotide variant not provided [RCV001986302] Chr10:93662558 [GRCh38]
Chr10:95422315 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1789GCT[2] (p.Ala599del) microsatellite not provided [RCV001890623] Chr10:93640970..93640972 [GRCh38]
Chr10:95400727..95400729 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2433A>C (p.Glu811Asp) single nucleotide variant not provided [RCV002021495] Chr10:93663093 [GRCh38]
Chr10:95422850 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1822G>A (p.Gly608Ser) single nucleotide variant not provided [RCV001969204] Chr10:93641004 [GRCh38]
Chr10:95400761 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.45_46delinsAC (p.Asn16His) indel not provided [RCV001893013] Chr10:93612770..93612771 [GRCh38]
Chr10:95372527..95372528 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1450G>A (p.Asp484Asn) single nucleotide variant not provided [RCV001964261] Chr10:93637031 [GRCh38]
Chr10:95396788 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1821A>T (p.Arg607Ser) single nucleotide variant not provided [RCV002040215] Chr10:93641003 [GRCh38]
Chr10:95400760 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2333G>C (p.Gly778Ala) single nucleotide variant not provided [RCV001966681] Chr10:93662609 [GRCh38]
Chr10:95422366 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2440T>A (p.Ser814Thr) single nucleotide variant not provided [RCV001963322] Chr10:93663100 [GRCh38]
Chr10:95422857 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.392A>C (p.Asp131Ala) single nucleotide variant not provided [RCV001960956] Chr10:93613117 [GRCh38]
Chr10:95372874 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.77G>C (p.Arg26Thr) single nucleotide variant not provided [RCV002038265] Chr10:93612802 [GRCh38]
Chr10:95372559 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.467C>G (p.Pro156Arg) single nucleotide variant not provided [RCV002009945] Chr10:93613192 [GRCh38]
Chr10:95372949 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1885A>G (p.Ile629Val) single nucleotide variant not provided [RCV001931985] Chr10:93645997 [GRCh38]
Chr10:95405754 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1727del (p.Thr576fs) deletion not provided [RCV002000192] Chr10:93640547 [GRCh38]
Chr10:95400304 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1385C>T (p.Ala462Val) single nucleotide variant not provided [RCV001998930] Chr10:93635612 [GRCh38]
Chr10:95395369 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2099C>G (p.Ala700Gly) single nucleotide variant not provided [RCV002017366] Chr10:93658963 [GRCh38]
Chr10:95418720 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1528C>T (p.Arg510Cys) single nucleotide variant not provided [RCV002037611] Chr10:93640115 [GRCh38]
Chr10:95399872 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.193C>G (p.Leu65Val) single nucleotide variant not provided [RCV001973931] Chr10:93612918 [GRCh38]
Chr10:95372675 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2289G>A (p.Met763Ile) single nucleotide variant not provided [RCV002048105] Chr10:93662565 [GRCh38]
Chr10:95422322 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.33A>T (p.Lys11Asn) single nucleotide variant not provided [RCV001993787] Chr10:93612758 [GRCh38]
Chr10:95372515 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.548C>T (p.Pro183Leu) single nucleotide variant not provided [RCV001864690] Chr10:93620699 [GRCh38]
Chr10:95380456 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2301C>A (p.Asn767Lys) single nucleotide variant not provided [RCV001876687] Chr10:93662577 [GRCh38]
Chr10:95422334 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.185G>T (p.Cys62Phe) single nucleotide variant not provided [RCV001957257] Chr10:93612910 [GRCh38]
Chr10:95372667 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.549del (p.Ile184fs) deletion not provided [RCV001950990] Chr10:93620700 [GRCh38]
Chr10:95380457 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV001933198] Chr10:93613180 [GRCh38]
Chr10:95372937 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2094A>C (p.Glu698Asp) single nucleotide variant not provided [RCV001976305] Chr10:93658958 [GRCh38]
Chr10:95418715 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1933G>C (p.Glu645Gln) single nucleotide variant Inborn genetic diseases [RCV002558436]|not provided [RCV001923901] Chr10:93646045 [GRCh38]
Chr10:95405802 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2377C>T (p.Arg793Trp) single nucleotide variant not provided [RCV001898078] Chr10:93663037 [GRCh38]
Chr10:95422794 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.221G>T (p.Gly74Val) single nucleotide variant not provided [RCV001932663] Chr10:93612946 [GRCh38]
Chr10:95372703 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.713G>A (p.Arg238Gln) single nucleotide variant not provided [RCV002049605] Chr10:93620970 [GRCh38]
Chr10:95380727 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.144G>T (p.Met48Ile) single nucleotide variant not provided [RCV002049619] Chr10:93612869 [GRCh38]
Chr10:95372626 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1022A>G (p.His341Arg) single nucleotide variant not provided [RCV002031971] Chr10:93626822 [GRCh38]
Chr10:95386579 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.462T>G (p.Asn154Lys) single nucleotide variant not provided [RCV001998921] Chr10:93613187 [GRCh38]
Chr10:95372944 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.229G>C (p.Glu77Gln) single nucleotide variant not provided [RCV001877947] Chr10:93612954 [GRCh38]
Chr10:95372711 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.575C>G (p.Ala192Gly) single nucleotide variant not provided [RCV001938099] Chr10:93620726 [GRCh38]
Chr10:95380483 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1251T>A (p.His417Gln) single nucleotide variant not provided [RCV001866573] Chr10:93634889 [GRCh38]
Chr10:95394646 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1904T>C (p.Leu635Pro) single nucleotide variant not provided [RCV001980297] Chr10:93646016 [GRCh38]
Chr10:95405773 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2248G>C (p.Asp750His) single nucleotide variant not provided [RCV001991789] Chr10:93662098 [GRCh38]
Chr10:95421855 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1558G>A (p.Gly520Arg) single nucleotide variant not provided [RCV001883559] Chr10:93640145 [GRCh38]
Chr10:95399902 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1269+18A>G single nucleotide variant not provided [RCV001921175] Chr10:93634925 [GRCh38]
Chr10:95394682 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1264A>G (p.Thr422Ala) single nucleotide variant not provided [RCV001981016] Chr10:93634902 [GRCh38]
Chr10:95394659 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1652C>T (p.Thr551Ile) single nucleotide variant not provided [RCV002027894] Chr10:93640472 [GRCh38]
Chr10:95400229 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1921_1922del (p.Leu641fs) microsatellite not provided [RCV002051488] Chr10:93646031..93646032 [GRCh38]
Chr10:95405788..95405789 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.865-8G>T single nucleotide variant not provided [RCV002029270] Chr10:93625567 [GRCh38]
Chr10:95385324 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.305G>A (p.Arg102Gln) single nucleotide variant not provided [RCV001956504] Chr10:93613030 [GRCh38]
Chr10:95372787 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.939+2T>G single nucleotide variant PDE6C-related condition [RCV003401962]|not provided [RCV001939562] Chr10:93625651 [GRCh38]
Chr10:95385408 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.105A>T (p.Glu35Asp) single nucleotide variant not provided [RCV001992453] Chr10:93612830 [GRCh38]
Chr10:95372587 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2059del (p.Ile687fs) deletion not provided [RCV002035272] Chr10:93658918 [GRCh38]
Chr10:95418675 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1571G>A (p.Cys524Tyr) single nucleotide variant not provided [RCV001961288] Chr10:93640158 [GRCh38]
Chr10:95399915 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.659T>G (p.Val220Gly) single nucleotide variant not provided [RCV002027964] Chr10:93620916 [GRCh38]
Chr10:95380673 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1481del (p.Ile493_Leu494insTer) deletion not provided [RCV001953902] Chr10:93637059 [GRCh38]
Chr10:95396816 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2339T>C (p.Ile780Thr) single nucleotide variant not provided [RCV001903983] Chr10:93662615 [GRCh38]
Chr10:95422372 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1522G>A (p.Glu508Lys) single nucleotide variant not provided [RCV002049058] Chr10:93640109 [GRCh38]
Chr10:95399866 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1904T>G (p.Leu635Arg) single nucleotide variant not provided [RCV001904384] Chr10:93646016 [GRCh38]
Chr10:95405773 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2435G>A (p.Trp812Ter) single nucleotide variant not provided [RCV001900362] Chr10:93663095 [GRCh38]
Chr10:95422852 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.940-18A>G single nucleotide variant not provided [RCV002186829] Chr10:93626622 [GRCh38]
Chr10:95386379 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2144+17G>T single nucleotide variant not provided [RCV002210891] Chr10:93659025 [GRCh38]
Chr10:95418782 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1212A>G (p.Thr404=) single nucleotide variant not provided [RCV002187168] Chr10:93634850 [GRCh38]
Chr10:95394607 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1847+13A>G single nucleotide variant not provided [RCV002169007] Chr10:93641042 [GRCh38]
Chr10:95400799 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1848-10T>C single nucleotide variant not provided [RCV002166010] Chr10:93645950 [GRCh38]
Chr10:95405707 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2145-15del deletion not provided [RCV002111439] Chr10:93659084 [GRCh38]
Chr10:95418841 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1545C>G (p.Pro515=) single nucleotide variant not provided [RCV002112095] Chr10:93640132 [GRCh38]
Chr10:95399889 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.447G>A (p.Thr149=) single nucleotide variant not provided [RCV002111643] Chr10:93613172 [GRCh38]
Chr10:95372929 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1134C>T (p.Asp378=) single nucleotide variant not provided [RCV002168080] Chr10:93634772 [GRCh38]
Chr10:95394529 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2518+19T>C single nucleotide variant not provided [RCV002192610] Chr10:93663197 [GRCh38]
Chr10:95422954 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.634-8G>A single nucleotide variant not provided [RCV002090218] Chr10:93620883 [GRCh38]
Chr10:95380640 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1848-16G>A single nucleotide variant not provided [RCV002189587] Chr10:93645944 [GRCh38]
Chr10:95405701 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1176T>C (p.Ile392=) single nucleotide variant not provided [RCV002145838] Chr10:93634814 [GRCh38]
Chr10:95394571 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.411A>G (p.Pro137=) single nucleotide variant not provided [RCV002144826] Chr10:93613136 [GRCh38]
Chr10:95372893 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2310T>C (p.Asp770=) single nucleotide variant not provided [RCV002126629] Chr10:93662586 [GRCh38]
Chr10:95422343 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1380C>A (p.Thr460=) single nucleotide variant not provided [RCV002073527] Chr10:93635607 [GRCh38]
Chr10:95395364 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1005-6C>T single nucleotide variant not provided [RCV002149677] Chr10:93626799 [GRCh38]
Chr10:95386556 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1903C>T (p.Leu635=) single nucleotide variant not provided [RCV002135133] Chr10:93646015 [GRCh38]
Chr10:95405772 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.147C>A (p.Ser49=) single nucleotide variant not provided [RCV002170331] Chr10:93612872 [GRCh38]
Chr10:95372629 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1482+7G>A single nucleotide variant not provided [RCV002148203] Chr10:93637070 [GRCh38]
Chr10:95396827 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1482+20C>A single nucleotide variant not provided [RCV002128132] Chr10:93637083 [GRCh38]
Chr10:95396840 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.36C>T (p.Tyr12=) single nucleotide variant not provided [RCV002079281] Chr10:93612761 [GRCh38]
Chr10:95372518 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1629+18T>G single nucleotide variant not provided [RCV002078814] Chr10:93640234 [GRCh38]
Chr10:95399991 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1308T>C (p.Thr436=) single nucleotide variant not provided [RCV002195519] Chr10:93635535 [GRCh38]
Chr10:95395292 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.309C>G (p.Ser103=) single nucleotide variant not provided [RCV002081077] Chr10:93613034 [GRCh38]
Chr10:95372791 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.318C>A (p.Gly106=) single nucleotide variant not provided [RCV002174016] Chr10:93613043 [GRCh38]
Chr10:95372800 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.864+12T>C single nucleotide variant not provided [RCV002172229] Chr10:93622084 [GRCh38]
Chr10:95381841 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1314C>A (p.Thr438=) single nucleotide variant not provided [RCV002080051] Chr10:93635541 [GRCh38]
Chr10:95395298 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1483-18C>T single nucleotide variant not provided [RCV002080179] Chr10:93640052 [GRCh38]
Chr10:95399809 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1029A>C (p.Thr343=) single nucleotide variant not provided [RCV002174132] Chr10:93626829 [GRCh38]
Chr10:95386586 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.633+11C>T single nucleotide variant not provided [RCV002079643] Chr10:93620795 [GRCh38]
Chr10:95380552 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.864+16C>A single nucleotide variant not provided [RCV002080274] Chr10:93622088 [GRCh38]
Chr10:95381845 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1629+15A>T single nucleotide variant not provided [RCV002151215] Chr10:93640231 [GRCh38]
Chr10:95399988 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.24C>T (p.Ala8=) single nucleotide variant not provided [RCV002076898] Chr10:93612749 [GRCh38]
Chr10:95372506 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2368-18A>C single nucleotide variant not provided [RCV002195244] Chr10:93663010 [GRCh38]
Chr10:95422767 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2518+13_2518+14del microsatellite not provided [RCV002159711] Chr10:93663189..93663190 [GRCh38]
Chr10:95422946..95422947 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2283+9T>C single nucleotide variant not provided [RCV002100007] Chr10:93662142 [GRCh38]
Chr10:95421899 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1119+12C>T single nucleotide variant not provided [RCV002102052] Chr10:93629317 [GRCh38]
Chr10:95389074 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2175T>C (p.Ser725=) single nucleotide variant not provided [RCV002221044] Chr10:93659134 [GRCh38]
Chr10:95418891 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.724-11C>G single nucleotide variant not specified [RCV002248088] Chr10:93621921 [GRCh38]
Chr10:95381678 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.567G>A (p.Glu189=) single nucleotide variant not provided [RCV002102313] Chr10:93620718 [GRCh38]
Chr10:95380475 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1521C>T (p.Tyr507=) single nucleotide variant not provided [RCV002202475] Chr10:93640108 [GRCh38]
Chr10:95399865 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1254T>C (p.Asp418=) single nucleotide variant not provided [RCV002182316] Chr10:93634892 [GRCh38]
Chr10:95394649 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2511C>T (p.Ala837=) single nucleotide variant not provided [RCV002118905] Chr10:93663171 [GRCh38]
Chr10:95422928 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1581A>G (p.Arg527=) single nucleotide variant not provided [RCV002138773] Chr10:93640168 [GRCh38]
Chr10:95399925 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2208+15G>A single nucleotide variant not provided [RCV002184445] Chr10:93659182 [GRCh38]
Chr10:95418939 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.939+13G>A single nucleotide variant not provided [RCV002164691] Chr10:93625662 [GRCh38]
Chr10:95385419 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2368-12A>T single nucleotide variant not provided [RCV002163340] Chr10:93663016 [GRCh38]
Chr10:95422773 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.627T>C (p.Asp209=) single nucleotide variant not provided [RCV002135881] Chr10:93620778 [GRCh38]
Chr10:95380535 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.723+19dup duplication not provided [RCV002204298] Chr10:93620997..93620998 [GRCh38]
Chr10:95380754..95380755 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.204C>T (p.Thr68=) single nucleotide variant not provided [RCV002164240] Chr10:93612929 [GRCh38]
Chr10:95372686 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1035T>C (p.Ile345=) single nucleotide variant not provided [RCV002162647] Chr10:93626835 [GRCh38]
Chr10:95386592 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1509A>C (p.Ser503=) single nucleotide variant not provided [RCV002164604] Chr10:93640096 [GRCh38]
Chr10:95399853 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2037-11A>C single nucleotide variant not provided [RCV002101921] Chr10:93658890 [GRCh38]
Chr10:95418647 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1630-13C>T single nucleotide variant not provided [RCV002161283] Chr10:93640437 [GRCh38]
Chr10:95400194 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1738-18T>C single nucleotide variant not provided [RCV002158354] Chr10:93640902 [GRCh38]
Chr10:95400659 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2518+11C>T single nucleotide variant not provided [RCV002140911] Chr10:93663189 [GRCh38]
Chr10:95422946 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1638C>T (p.Thr546=) single nucleotide variant not provided [RCV002198773] Chr10:93640458 [GRCh38]
Chr10:95400215 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1738-3del deletion not provided [RCV002082792] Chr10:93640911 [GRCh38]
Chr10:95400668 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.2208+20C>A single nucleotide variant not provided [RCV002178709] Chr10:93659187 [GRCh38]
Chr10:95418944 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1920T>C (p.Thr640=) single nucleotide variant not provided [RCV002156687] Chr10:93646032 [GRCh38]
Chr10:95405789 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.940-17T>A single nucleotide variant not provided [RCV002141066] Chr10:93626623 [GRCh38]
Chr10:95386380 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2144+21_2144+22del deletion not provided [RCV002204160] Chr10:93659028..93659029 [GRCh38]
Chr10:95418785..95418786 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1164G>A (p.Leu388=) single nucleotide variant not provided [RCV002178822] Chr10:93634802 [GRCh38]
Chr10:95394559 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1737+13G>C single nucleotide variant not provided [RCV002101678] Chr10:93640570 [GRCh38]
Chr10:95400327 [GRCh37]
Chr10:10q23.33
likely benign
NC_000010.10:g.(?_95361588)_(95425175_?)del deletion not provided [RCV003116540] Chr10:95361588..95425175 [GRCh37]
Chr10:10q23.33
pathogenic
NC_000010.10:g.(?_95418638)_(95418944_?)dup duplication not provided [RCV003116541] Chr10:95418638..95418944 [GRCh37]
Chr10:10q23.33
likely pathogenic
NC_000010.10:g.(?_95422297)_(95425175_?)dup duplication not provided [RCV003116542] Chr10:95422297..95425175 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.659T>C (p.Val220Ala) single nucleotide variant not provided [RCV002296991] Chr10:93620916 [GRCh38]
Chr10:95380673 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2018A>G (p.Asp673Gly) single nucleotide variant Cone dystrophy 4 [RCV002290191] Chr10:93655842 [GRCh38]
Chr10:95415599 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2242C>A (p.Gln748Lys) single nucleotide variant Cone dystrophy 4 [RCV002290192] Chr10:93662092 [GRCh38]
Chr10:95421849 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.46A>C (p.Asn16His) single nucleotide variant Inborn genetic diseases [RCV003264490] Chr10:93612771 [GRCh38]
Chr10:95372528 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1891G>A (p.Glu631Lys) single nucleotide variant not provided [RCV003015975] Chr10:93646003 [GRCh38]
Chr10:95405760 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1692G>T (p.Trp564Cys) single nucleotide variant not provided [RCV003032703] Chr10:93640512 [GRCh38]
Chr10:95400269 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.721C>T (p.Gln241Ter) single nucleotide variant not provided [RCV003013831] Chr10:93620978 [GRCh38]
Chr10:95380735 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1293del (p.Trp431fs) deletion not provided [RCV003035007] Chr10:93635519 [GRCh38]
Chr10:95395276 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.207G>C (p.Val69=) single nucleotide variant not provided [RCV002837832] Chr10:93612932 [GRCh38]
Chr10:95372689 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.885A>C (p.Pro295=) single nucleotide variant not provided [RCV002996304] Chr10:93625595 [GRCh38]
Chr10:95385352 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1452C>A (p.Asp484Glu) single nucleotide variant not provided [RCV002967705] Chr10:93637033 [GRCh38]
Chr10:95396790 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1004+7A>G single nucleotide variant not provided [RCV002904625] Chr10:93626711 [GRCh38]
Chr10:95386468 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.583A>G (p.Met195Val) single nucleotide variant not provided [RCV002994755] Chr10:93620734 [GRCh38]
Chr10:95380491 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1775C>G (p.Ala592Gly) single nucleotide variant not provided [RCV002727141] Chr10:93640957 [GRCh38]
Chr10:95400714 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.385G>C (p.Gly129Arg) single nucleotide variant not provided [RCV002880804] Chr10:93613110 [GRCh38]
Chr10:95372867 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1321A>G (p.Lys441Glu) single nucleotide variant not provided [RCV002616048] Chr10:93635548 [GRCh38]
Chr10:95395305 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.772G>A (p.Glu258Lys) single nucleotide variant not provided [RCV002908708] Chr10:93621980 [GRCh38]
Chr10:95381737 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1511C>T (p.Ala504Val) single nucleotide variant not provided [RCV002843317] Chr10:93640098 [GRCh38]
Chr10:95399855 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1747T>C (p.Leu583=) single nucleotide variant not provided [RCV002881856] Chr10:93640929 [GRCh38]
Chr10:95400686 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1738-9T>C single nucleotide variant not provided [RCV002927965] Chr10:93640911 [GRCh38]
Chr10:95400668 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1119+7G>C single nucleotide variant not provided [RCV002622932] Chr10:93629312 [GRCh38]
Chr10:95389069 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.372G>C (p.Glu124Asp) single nucleotide variant not provided [RCV002846438] Chr10:93613097 [GRCh38]
Chr10:95372854 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1269+5G>A single nucleotide variant not provided [RCV002889326] Chr10:93634912 [GRCh38]
Chr10:95394669 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2209-16C>T single nucleotide variant not provided [RCV003039021] Chr10:93662043 [GRCh38]
Chr10:95421800 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1101T>C (p.Asp367=) single nucleotide variant not provided [RCV002622931] Chr10:93629287 [GRCh38]
Chr10:95389044 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.273C>T (p.Leu91=) single nucleotide variant not provided [RCV003054853] Chr10:93612998 [GRCh38]
Chr10:95372755 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.351C>T (p.Val117=) single nucleotide variant not provided [RCV002871114] Chr10:93613076 [GRCh38]
Chr10:95372833 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2097A>G (p.Glu699=) single nucleotide variant not provided [RCV002590480] Chr10:93658961 [GRCh38]
Chr10:95418718 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.598G>A (p.Val200Ile) single nucleotide variant Inborn genetic diseases [RCV002952869]|not provided [RCV002952868] Chr10:93620749 [GRCh38]
Chr10:95380506 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1305T>C (p.Asn435=) single nucleotide variant not provided [RCV002979091] Chr10:93635532 [GRCh38]
Chr10:95395289 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1414-12T>C single nucleotide variant not provided [RCV002696220] Chr10:93636983 [GRCh38]
Chr10:95396740 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1453T>A (p.Cys485Ser) single nucleotide variant Inborn genetic diseases [RCV002638922]|not provided [RCV002623024] Chr10:93637034 [GRCh38]
Chr10:95396791 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2002G>A (p.Ala668Thr) single nucleotide variant not provided [RCV002621305] Chr10:93655826 [GRCh38]
Chr10:95415583 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1705A>G (p.Asn569Asp) single nucleotide variant not provided [RCV002912531] Chr10:93640525 [GRCh38]
Chr10:95400282 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.221del (p.Gly74fs) deletion not provided [RCV002796680] Chr10:93612941 [GRCh38]
Chr10:95372698 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2103C>T (p.Ile701=) single nucleotide variant not provided [RCV002844019] Chr10:93658967 [GRCh38]
Chr10:95418724 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2127C>A (p.Thr709=) single nucleotide variant not provided [RCV002662581] Chr10:93658991 [GRCh38]
Chr10:95418748 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2270A>T (p.Gln757Leu) single nucleotide variant Inborn genetic diseases [RCV002924100] Chr10:93662120 [GRCh38]
Chr10:95421877 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.218G>A (p.Gly73Glu) single nucleotide variant not provided [RCV003055027] Chr10:93612943 [GRCh38]
Chr10:95372700 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.828A>G (p.Arg276=) single nucleotide variant not provided [RCV002622679] Chr10:93622036 [GRCh38]
Chr10:95381793 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.295T>C (p.Phe99Leu) single nucleotide variant not provided [RCV003053809] Chr10:93613020 [GRCh38]
Chr10:95372777 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2036+1G>C single nucleotide variant not provided [RCV003053810] Chr10:93655861 [GRCh38]
Chr10:95415618 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1482+13T>C single nucleotide variant not provided [RCV003037487] Chr10:93637076 [GRCh38]
Chr10:95396833 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.464T>C (p.Val155Ala) single nucleotide variant not provided [RCV002796641] Chr10:93613189 [GRCh38]
Chr10:95372946 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.231G>A (p.Glu77=) single nucleotide variant not provided [RCV002570848] Chr10:93612956 [GRCh38]
Chr10:95372713 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1781C>T (p.Ala594Val) single nucleotide variant Inborn genetic diseases [RCV002799483] Chr10:93640963 [GRCh38]
Chr10:95400720 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1936-7C>T single nucleotide variant not provided [RCV002639615] Chr10:93655753 [GRCh38]
Chr10:95415510 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1847+20A>T single nucleotide variant not provided [RCV002621885] Chr10:93641049 [GRCh38]
Chr10:95400806 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.20T>C (p.Val7Ala) single nucleotide variant Inborn genetic diseases [RCV003170810]|not provided [RCV003002107] Chr10:93612745 [GRCh38]
Chr10:95372502 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.481-11_481-10del deletion not provided [RCV002848351] Chr10:93620620..93620621 [GRCh38]
Chr10:95380377..95380378 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.997G>A (p.Val333Met) single nucleotide variant not provided [RCV002825104] Chr10:93626697 [GRCh38]
Chr10:95386454 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1120-18G>A single nucleotide variant not provided [RCV002867591] Chr10:93634740 [GRCh38]
Chr10:95394497 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1501C>T (p.Pro501Ser) single nucleotide variant Inborn genetic diseases [RCV002715465]|not provided [RCV002706465] Chr10:93640088 [GRCh38]
Chr10:95399845 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1824C>T (p.Gly608=) single nucleotide variant not provided [RCV003038552] Chr10:93641006 [GRCh38]
Chr10:95400763 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.299T>C (p.Leu100Pro) single nucleotide variant not provided [RCV002695160] Chr10:93613024 [GRCh38]
Chr10:95372781 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2368-4T>C single nucleotide variant not provided [RCV003021093] Chr10:93663024 [GRCh38]
Chr10:95422781 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.93G>T (p.Glu31Asp) single nucleotide variant not provided [RCV003017818] Chr10:93612818 [GRCh38]
Chr10:95372575 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.664A>T (p.Ile222Phe) single nucleotide variant not provided [RCV003021297] Chr10:93620921 [GRCh38]
Chr10:95380678 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1044G>T (p.Leu348Phe) single nucleotide variant not provided [RCV002958910] Chr10:93626844 [GRCh38]
Chr10:95386601 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.284G>A (p.Arg95His) single nucleotide variant not provided [RCV002625593] Chr10:93613009 [GRCh38]
Chr10:95372766 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.549G>A (p.Pro183=) single nucleotide variant not provided [RCV002576396] Chr10:93620700 [GRCh38]
Chr10:95380457 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1718C>T (p.Thr573Ile) single nucleotide variant not provided [RCV002711366] Chr10:93640538 [GRCh38]
Chr10:95400295 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.88G>A (p.Val30Met) single nucleotide variant not provided [RCV003041036] Chr10:93612813 [GRCh38]
Chr10:95372570 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.319A>C (p.Ile107Leu) single nucleotide variant not provided [RCV002667686] Chr10:93613044 [GRCh38]
Chr10:95372801 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1236A>G (p.Lys412=) single nucleotide variant not provided [RCV003025827] Chr10:93634874 [GRCh38]
Chr10:95394631 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2420A>G (p.Asn807Ser) single nucleotide variant not provided [RCV002766349] Chr10:93663080 [GRCh38]
Chr10:95422837 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.481-18T>C single nucleotide variant not provided [RCV002666654] Chr10:93620614 [GRCh38]
Chr10:95380371 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1269+12A>T single nucleotide variant not provided [RCV002741193] Chr10:93634919 [GRCh38]
Chr10:95394676 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.641C>T (p.Ser214Phe) single nucleotide variant not provided [RCV003055943] Chr10:93620898 [GRCh38]
Chr10:95380655 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.776G>A (p.Arg259Gln) single nucleotide variant Inborn genetic diseases [RCV002954814] Chr10:93621984 [GRCh38]
Chr10:95381741 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1482+2T>G single nucleotide variant not provided [RCV003024020] Chr10:93637065 [GRCh38]
Chr10:95396822 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.2037-12T>C single nucleotide variant not provided [RCV002801250] Chr10:93658889 [GRCh38]
Chr10:95418646 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1485A>G (p.Lys495=) single nucleotide variant not provided [RCV003024362] Chr10:93640072 [GRCh38]
Chr10:95399829 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.909T>C (p.Pro303=) single nucleotide variant not provided [RCV003059648] Chr10:93625619 [GRCh38]
Chr10:95385376 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1836G>C (p.Leu612Phe) single nucleotide variant Inborn genetic diseases [RCV002892875] Chr10:93641018 [GRCh38]
Chr10:95400775 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2053del (p.Gln685fs) deletion Cone dystrophy 4 [RCV002789992] Chr10:93658917 [GRCh38]
Chr10:95418674 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1005-15C>G single nucleotide variant not provided [RCV003041664] Chr10:93626790 [GRCh38]
Chr10:95386547 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.481-5_481-4del deletion not provided [RCV002894500] Chr10:93620626..93620627 [GRCh38]
Chr10:95380383..95380384 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2455T>C (p.Tyr819His) single nucleotide variant not provided [RCV003022765] Chr10:93663115 [GRCh38]
Chr10:95422872 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1334T>C (p.Leu445Pro) single nucleotide variant not provided [RCV003039857] Chr10:93635561 [GRCh38]
Chr10:95395318 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1414-9A>G single nucleotide variant not provided [RCV002829274] Chr10:93636986 [GRCh38]
Chr10:95396743 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2283+12A>T single nucleotide variant not provided [RCV002872420] Chr10:93662145 [GRCh38]
Chr10:95421902 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1242C>G (p.Phe414Leu) single nucleotide variant not provided [RCV002828488] Chr10:93634880 [GRCh38]
Chr10:95394637 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.326A>T (p.Glu109Val) single nucleotide variant not provided [RCV002625698] Chr10:93613051 [GRCh38]
Chr10:95372808 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.179C>A (p.Ala60Asp) single nucleotide variant not provided [RCV002801552] Chr10:93612904 [GRCh38]
Chr10:95372661 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2046C>T (p.Thr682=) single nucleotide variant not provided [RCV002710623] Chr10:93658910 [GRCh38]
Chr10:95418667 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1756del (p.Tyr586fs) deletion not provided [RCV003059117] Chr10:93640938 [GRCh38]
Chr10:95400695 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1032C>T (p.Leu344=) single nucleotide variant not provided [RCV002958500] Chr10:93626832 [GRCh38]
Chr10:95386589 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.219G>C (p.Gly73=) single nucleotide variant not provided [RCV002895864] Chr10:93612944 [GRCh38]
Chr10:95372701 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1337A>G (p.Glu446Gly) single nucleotide variant not provided [RCV002833566] Chr10:93635564 [GRCh38]
Chr10:95395321 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1037G>A (p.Ser346Asn) single nucleotide variant not provided [RCV003045537] Chr10:93626837 [GRCh38]
Chr10:95386594 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.699C>T (p.Tyr233=) single nucleotide variant not provided [RCV003029836] Chr10:93620956 [GRCh38]
Chr10:95380713 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1270-9_1270-7delinsTTG indel not provided [RCV002676653] Chr10:93635488..93635490 [GRCh38]
Chr10:95395245..95395247 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1959A>G (p.Leu653=) single nucleotide variant not provided [RCV003064061] Chr10:93655783 [GRCh38]
Chr10:95415540 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2036+3A>G single nucleotide variant not provided [RCV003026652] Chr10:93655863 [GRCh38]
Chr10:95415620 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1544C>T (p.Pro515Leu) single nucleotide variant not provided [RCV002650121] Chr10:93640131 [GRCh38]
Chr10:95399888 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2504GAG[1] (p.Gly836del) microsatellite not provided [RCV003031840] Chr10:93663162..93663164 [GRCh38]
Chr10:95422919..95422921 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.508A>C (p.Lys170Gln) single nucleotide variant not provided [RCV003011028] Chr10:93620659 [GRCh38]
Chr10:95380416 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1645A>T (p.Met549Leu) single nucleotide variant not provided [RCV002720829] Chr10:93640465 [GRCh38]
Chr10:95400222 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2519-9T>C single nucleotide variant not provided [RCV003061852] Chr10:93665351 [GRCh38]
Chr10:95425108 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1783A>T (p.Met595Leu) single nucleotide variant not provided [RCV003027985] Chr10:93640965 [GRCh38]
Chr10:95400722 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.940-15C>A single nucleotide variant not provided [RCV002898593] Chr10:93626625 [GRCh38]
Chr10:95386382 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1401T>C (p.Ile467=) single nucleotide variant not provided [RCV002598889] Chr10:93635628 [GRCh38]
Chr10:95395385 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1513G>A (p.Glu505Lys) single nucleotide variant not provided [RCV002649561] Chr10:93640100 [GRCh38]
Chr10:95399857 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1577T>A (p.Ile526Lys) single nucleotide variant not provided [RCV003027569] Chr10:93640164 [GRCh38]
Chr10:95399921 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.405_406del (p.Phe136fs) microsatellite not provided [RCV002833351] Chr10:93613127..93613128 [GRCh38]
Chr10:95372884..95372885 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.2519-11G>C single nucleotide variant not provided [RCV002857605] Chr10:93665349 [GRCh38]
Chr10:95425106 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.801G>A (p.Thr267=) single nucleotide variant not provided [RCV002937687] Chr10:93622009 [GRCh38]
Chr10:95381766 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1414-10T>A single nucleotide variant not provided [RCV002833184] Chr10:93636985 [GRCh38]
Chr10:95396742 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1670G>A (p.Arg557Gln) single nucleotide variant not provided [RCV002937914] Chr10:93640490 [GRCh38]
Chr10:95400247 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1694G>T (p.Arg565Leu) single nucleotide variant not provided [RCV002806409] Chr10:93640514 [GRCh38]
Chr10:95400271 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2037-1G>C single nucleotide variant not provided [RCV003046100] Chr10:93658900 [GRCh38]
Chr10:95418657 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1918A>G (p.Thr640Ala) single nucleotide variant not provided [RCV002631047] Chr10:93646030 [GRCh38]
Chr10:95405787 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.801_804del (p.Val268fs) deletion not provided [RCV003064148] Chr10:93622009..93622012 [GRCh38]
Chr10:95381766..95381769 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1004+1G>A single nucleotide variant Cone dystrophy 4 [RCV003225999]|not provided [RCV003062291] Chr10:93626705 [GRCh38]
Chr10:95386462 [GRCh37]
Chr10:10q23.33
likely pathogenic
NM_006204.4(PDE6C):c.1074C>T (p.Ile358=) single nucleotide variant not provided [RCV003045895] Chr10:93629260 [GRCh38]
Chr10:95389017 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2379G>A (p.Arg793=) single nucleotide variant not provided [RCV003048656] Chr10:93663039 [GRCh38]
Chr10:95422796 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.633+19A>T single nucleotide variant not provided [RCV002810806] Chr10:93620803 [GRCh38]
Chr10:95380560 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2519C>T (p.Ala840Val) single nucleotide variant not provided [RCV002645941] Chr10:93665360 [GRCh38]
Chr10:95425117 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1738-3dup duplication not provided [RCV002671266] Chr10:93640910..93640911 [GRCh38]
Chr10:95400667..95400668 [GRCh37]
Chr10:10q23.33
benign
NM_006204.4(PDE6C):c.1629+19T>C single nucleotide variant not provided [RCV002810851] Chr10:93640235 [GRCh38]
Chr10:95399992 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1270-15T>C single nucleotide variant not provided [RCV002966244] Chr10:93635482 [GRCh38]
Chr10:95395239 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.652A>G (p.Asn218Asp) single nucleotide variant not provided [RCV003046566] Chr10:93620909 [GRCh38]
Chr10:95380666 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1004+15G>A single nucleotide variant not provided [RCV003044558] Chr10:93626719 [GRCh38]
Chr10:95386476 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.657T>C (p.Phe219=) single nucleotide variant not provided [RCV002671484] Chr10:93620914 [GRCh38]
Chr10:95380671 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.48C>A (p.Asn16Lys) single nucleotide variant not provided [RCV002631758] Chr10:93612773 [GRCh38]
Chr10:95372530 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2145-15T>C single nucleotide variant not provided [RCV002604453] Chr10:93659089 [GRCh38]
Chr10:95418846 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.2024C>T (p.Ala675Val) single nucleotide variant not provided [RCV003049974] Chr10:93655848 [GRCh38]
Chr10:95415605 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1119+15G>C single nucleotide variant not provided [RCV002604818] Chr10:93629320 [GRCh38]
Chr10:95389077 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1135G>A (p.Glu379Lys) single nucleotide variant not provided [RCV002582690] Chr10:93634773 [GRCh38]
Chr10:95394530 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1780G>C (p.Ala594Pro) single nucleotide variant not provided [RCV003051816] Chr10:93640962 [GRCh38]
Chr10:95400719 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2367G>C (p.Lys789Asn) single nucleotide variant not provided [RCV003032114] Chr10:93662643 [GRCh38]
Chr10:95422400 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.481-7C>G single nucleotide variant not provided [RCV003050295] Chr10:93620625 [GRCh38]
Chr10:95380382 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.234G>A (p.Gln78=) single nucleotide variant not provided [RCV002587736] Chr10:93612959 [GRCh38]
Chr10:95372716 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.427G>C (p.Val143Leu) single nucleotide variant not provided [RCV002603916] Chr10:93613152 [GRCh38]
Chr10:95372909 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1436T>C (p.Val479Ala) single nucleotide variant not provided [RCV003050001] Chr10:93637017 [GRCh38]
Chr10:95396774 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1979C>T (p.Thr660Ile) single nucleotide variant not provided [RCV002606916] Chr10:93655803 [GRCh38]
Chr10:95415560 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1689T>C (p.Asn563=) single nucleotide variant not provided [RCV002583857] Chr10:93640509 [GRCh38]
Chr10:95400266 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1413+15C>T single nucleotide variant not provided [RCV002609050] Chr10:93635655 [GRCh38]
Chr10:95395412 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.57T>G (p.Phe19Leu) single nucleotide variant not provided [RCV002613093] Chr10:93612782 [GRCh38]
Chr10:95372539 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1212A>C (p.Thr404=) single nucleotide variant not provided [RCV002604617] Chr10:93634850 [GRCh38]
Chr10:95394607 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.108C>A (p.Ile36=) single nucleotide variant not provided [RCV002635075] Chr10:93612833 [GRCh38]
Chr10:95372590 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1483-14C>A single nucleotide variant not provided [RCV002814998] Chr10:93640056 [GRCh38]
Chr10:95399813 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1482+1del deletion not provided [RCV002604040] Chr10:93637063 [GRCh38]
Chr10:95396820 [GRCh37]
Chr10:10q23.33
pathogenic
NM_006204.4(PDE6C):c.1711G>C (p.Gly571Arg) single nucleotide variant Cone dystrophy 4 [RCV003164469] Chr10:93640531 [GRCh38]
Chr10:95400288 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1413+3A>T single nucleotide variant Cone dystrophy 4 [RCV003226081] Chr10:93635643 [GRCh38]
Chr10:95395400 [GRCh37]
Chr10:10q23.33
uncertain significance
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 copy number loss See cases [RCV003159569] Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_006204.4(PDE6C):c.1295C>T (p.Ser432Phe) single nucleotide variant Cone dystrophy [RCV003324706] Chr10:93635522 [GRCh38]
Chr10:95395279 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.271C>A (p.Leu91Ile) single nucleotide variant Inborn genetic diseases [RCV003376736] Chr10:93612996 [GRCh38]
Chr10:95372753 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1232G>T (p.Gly411Val) single nucleotide variant not provided [RCV003571187] Chr10:93634870 [GRCh38]
Chr10:95394627 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.1815C>T (p.Asp605=) single nucleotide variant not provided [RCV003712537] Chr10:93640997 [GRCh38]
Chr10:95400754 [GRCh37]
Chr10:10q23.33
likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_006204.4(PDE6C):c.2368-2A>T single nucleotide variant Isolated macular dystrophy [RCV003389579] Chr10:93663026 [GRCh38]
Chr10:95422783 [GRCh37]
Chr10:10q23.33
pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 copy number gain not provided [RCV003484809] Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33
uncertain significance
NM_006204.4(PDE6C):c.85C>A (p.Arg29=) single nucleotide variant not provided [RCV003663064] Chr10:93612810 [GRCh38]
Chr10:95372567 [GRCh37]
Chr10:10q23.33
likely benign
NM_006204.4(PDE6C):c.1862T>C (p.Leu621Ser) single nucleotide variant not provided [RCV003716188] Chr10:93645974 [GRCh38]
Chr10:95405731 [GRCh37]
Chr10:10q23.33
uncertain significance
NM_006204.4(PDE6C):c.2448T>C (p.Ala816=) single nucleotide variant not provided [RCV003713505] Chr10:93663108 [GRCh38]
Chr10:95422865 [GRCh37]
Chr10:10q23.33
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:370
Count of miRNA genes:299
Interacting mature miRNAs:314
Transcripts:ENST00000371447, ENST00000475427
Prediction methods: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
RH79144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,425,256 - 95,425,399UniSTSGRCh37
Build 361095,415,246 - 95,415,389RGDNCBI36
Celera1089,166,382 - 89,166,525UniSTS
Celera1082,941,309 - 82,941,452RGD
Cytogenetic Map10q24UniSTS
HuRef1089,053,034 - 89,053,177UniSTS
GeneMap99-GB4 RH Map10445.29UniSTS
SHGC-31657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,425,205 - 95,425,405UniSTSGRCh37
Build 361095,415,195 - 95,415,395RGDNCBI36
Celera1089,166,331 - 89,166,531UniSTS
Celera1082,941,258 - 82,941,458RGD
Cytogenetic Map10q24UniSTS
HuRef1089,052,983 - 89,053,183UniSTS
PDE6C-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,380,709 - 95,381,753UniSTSGRCh37
Celera1089,121,834 - 89,122,878UniSTS
HuRef1089,008,473 - 89,009,517UniSTS


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
High
Medium 11
Low 734 591 838 140 459 100 2003 421 1426 100 984 825 43 1 403 1330
Below cutoff 1630 2293 836 449 1247 327 2282 1723 2227 260 399 684 126 800 1456 3

Sequence


RefSeq Acc Id: ENST00000371447   ⟹   ENSP00000360502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,612,537 - 93,666,010 (+)Ensembl
RefSeq Acc Id: ENST00000475427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,662,056 - 93,665,673 (+)Ensembl
RefSeq Acc Id: NM_006204   ⟹   NP_006195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,612,537 - 93,666,010 (+)NCBI
GRCh371095,372,345 - 95,425,430 (+)ENTREZGENE
Build 361095,362,335 - 95,415,420 (+)NCBI Archive
HuRef1089,000,108 - 89,053,208 (+)ENTREZGENE
CHM1_11095,654,899 - 95,708,001 (+)NCBI
T2T-CHM13v2.01094,492,491 - 94,545,941 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_006195 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA92886 (Get FASTA)   NCBI Sequence Viewer  
  AAA96392 (Get FASTA)   NCBI Sequence Viewer  
  CAA64079 (Get FASTA)   NCBI Sequence Viewer  
  EAW50063 (Get FASTA)   NCBI Sequence Viewer  
  EAW50064 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000360502
  ENSP00000360502.3
GenBank Protein P51160 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006195   ⟸   NM_006204
- UniProtKB: A6NCR6 (UniProtKB/Swiss-Prot),   Q5VY29 (UniProtKB/Swiss-Prot),   P51160 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360502   ⟸   ENST00000371447
Protein Domains
GAF   PDEase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51160-F1-model_v2 AlphaFold P51160 1-858 view protein structure

Promoters
RGD ID:7218199
Promoter ID:EPDNEW_H14846
Type:initiation region
Name:PDE6C_1
Description:phosphodiesterase 6C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,612,537 - 93,612,597EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8787 AgrOrtholog
COSMIC PDE6C COSMIC
Ensembl Genes ENSG00000095464 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371447 ENTREZGENE
  ENST00000371447.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1300.10 UniProtKB/Swiss-Prot
  3.30.450.40 UniProtKB/Swiss-Prot
GTEx ENSG00000095464 GTEx
HGNC ID HGNC:8787 ENTREZGENE
Human Proteome Map PDE6C Human Proteome Map
InterPro GAF UniProtKB/Swiss-Prot
  GAF-like_dom_sf UniProtKB/Swiss-Prot
  HD/PDEase_dom UniProtKB/Swiss-Prot
  PDEase UniProtKB/Swiss-Prot
  PDEase_catalytic_dom UniProtKB/Swiss-Prot
  PDEase_catalytic_dom_sf UniProtKB/Swiss-Prot
  PDEase_CS UniProtKB/Swiss-Prot
KEGG Report hsa:5146 UniProtKB/Swiss-Prot
NCBI Gene 5146 ENTREZGENE
OMIM 600827 OMIM
PANTHER CONE CGMP-SPECIFIC 3',5'-CYCLIC PHOSPHODIESTERASE SUBUNIT ALPHA UniProtKB/Swiss-Prot
  CYCLIC NUCLEOTIDE PHOSPHODIESTERASE UniProtKB/Swiss-Prot
Pfam GAF UniProtKB/Swiss-Prot
  PDEase_I UniProtKB/Swiss-Prot
PharmGKB PA33135 PharmGKB
PRINTS PDIESTERASE1 UniProtKB/Swiss-Prot
PROSITE PDEASE_I_1 UniProtKB/Swiss-Prot
  PDEASE_I_2 UniProtKB/Swiss-Prot
SMART GAF UniProtKB/Swiss-Prot
  HDc UniProtKB/Swiss-Prot
Superfamily-SCOP GAF domain-like UniProtKB/Swiss-Prot
  HD-domain/PDEase-like UniProtKB/Swiss-Prot
UniProt A6NCR6 ENTREZGENE
  P51160 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5VY29 ENTREZGENE
UniProt Secondary A6NCR6 UniProtKB/Swiss-Prot
  Q5VY29 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PDE6C  phosphodiesterase 6C    phosphodiesterase 6C, cGMP-specific, cone, alpha prime  Symbol and/or name change 5135510 APPROVED