CACNA1F (calcium voltage-gated channel subunit alpha1 F) - Rat Genome Database

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Gene: CACNA1F (calcium voltage-gated channel subunit alpha1 F) Homo sapiens
Analyze
Symbol: CACNA1F
Name: calcium voltage-gated channel subunit alpha1 F
RGD ID: 731992
HGNC Page HGNC
Description: Exhibits high voltage-gated calcium channel activity. Involved in detection of light stimulus involved in visual perception and negative regulation of voltage-gated calcium channel activity. Localizes to voltage-gated calcium channel complex. Implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIED; Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2); calcium channel, voltage-dependent, alpha 1f subunit; calcium channel, voltage-dependent, L type, alpha 1F subunit; Cav1.4; Cav1.4alpha1; COD3; COD4; CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2; voltage gated calcium channel alpha 1F subunit; voltage-dependent L-type calcium channel subunit alpha-1F; voltage-gated calcium channel subunit alpha Cav1.4
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
GRCh38.p13 EnsemblX49,205,063 - 49,233,371 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,205,063 - 49,233,404 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,061,523 - 49,089,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,948,467 - 48,976,777 (-)NCBINCBI36hg18NCBI36
Build 34X48,817,894 - 48,846,204NCBI
CeleraX52,574,536 - 52,602,846 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,718,790 - 46,746,229 (-)NCBIHuRef
CHM1_1X49,093,823 - 49,122,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7633454   PMID:8889548   PMID:8889549   PMID:8933343   PMID:9344658   PMID:9529339   PMID:9662399   PMID:9662400   PMID:10873387   PMID:10900517   PMID:11281458   PMID:11381068  
PMID:12187427   PMID:12552565   PMID:12719097   PMID:12807962   PMID:12853422   PMID:12860808   PMID:12954628   PMID:14973233   PMID:15452577   PMID:15634789   PMID:15761389   PMID:15772651  
PMID:15807819   PMID:15897456   PMID:16085774   PMID:16382099   PMID:16476079   PMID:16921373   PMID:16960802   PMID:17474147   PMID:17651254   PMID:17949918   PMID:18206315   PMID:19029287  
PMID:19717559   PMID:20139964   PMID:20301423   PMID:20398921   PMID:20801516   PMID:21873635   PMID:21920492   PMID:22069316   PMID:22194652   PMID:22735794   PMID:22744390   PMID:22936811  
PMID:23219801   PMID:23714322   PMID:24124559   PMID:24163243   PMID:24796500   PMID:25468907   PMID:25966695   PMID:26075273   PMID:26436388   PMID:27226626   PMID:27456671   PMID:28002560  
PMID:28330839   PMID:29062221   PMID:29676528   PMID:30260717   PMID:30355583   PMID:30825406   PMID:31651202  


Genomics

Comparative Map Data
CACNA1F
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,205,063 - 49,233,371 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,205,063 - 49,233,404 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,061,523 - 49,089,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,948,467 - 48,976,777 (-)NCBINCBI36hg18NCBI36
Build 34X48,817,894 - 48,846,204NCBI
CeleraX52,574,536 - 52,602,846 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,718,790 - 46,746,229 (-)NCBIHuRef
CHM1_1X49,093,823 - 49,122,134 (-)NCBICHM1_1
Cacna1f
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,473,342 - 7,501,435 (+)NCBIGRCm39mm39
GRCm39 EnsemblX7,473,322 - 7,501,435 (+)Ensembl
GRCm38X7,607,103 - 7,635,196 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,607,083 - 7,635,196 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,184,229 - 7,212,322 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X6,759,391 - 6,792,153 (+)NCBImm8
MGSCv36X3,776,675 - 3,808,487 (+)NCBImm8
CeleraX3,836,719 - 3,864,582 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.42NCBI
Cacna1f
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,868,096 - 14,896,413 (-)NCBI
Rnor_6.0 EnsemblX15,712,713 - 15,741,103 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,712,709 - 15,741,135 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,504,174 - 16,532,670 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,908,850 - 26,937,165 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,962,318 - 26,990,634 (-)NCBI
CeleraX14,951,395 - 14,979,817 (-)NCBICelera
Cytogenetic MapXq12NCBI
Cacna1f
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543692,035 - 717,364 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543692,035 - 717,364 (-)NCBIChiLan1.0ChiLan1.0
CACNA1F
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,356,994 - 49,385,678 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,356,994 - 49,385,678 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,504,804 - 41,533,501 (-)NCBIMhudiblu_PPA_v0panPan3
CACNA1F
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,302,971 - 42,327,787 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,303,158 - 42,326,774 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,681,688 - 16,706,446 (-)NCBI
ROS_Cfam_1.0X42,444,658 - 42,469,408 (-)NCBI
UMICH_Zoey_3.1X42,428,611 - 42,453,368 (-)NCBI
UNSW_CanFamBas_1.0X42,416,270 - 42,440,826 (-)NCBI
UU_Cfam_GSD_1.0X42,511,022 - 42,535,780 (-)NCBI
Cacna1f
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,838,179 - 34,865,828 (-)NCBI
SpeTri2.0NW_0049367211,078,570 - 1,106,153 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1F
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,246,786 - 43,283,990 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,250,449 - 43,284,458 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,098,467 - 48,132,377 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA1F
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,304,831 - 46,330,562 (-)NCBI
Cacna1f
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893945,378 - 968,041 (-)NCBI

Position Markers
D2S405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37229,476,647 - 29,476,894UniSTSGRCh37
Build 36229,330,151 - 29,330,398RGDNCBI36
Celera229,321,095 - 29,321,342RGD
Cytogenetic Map2p23UniSTS
HuRef229,217,701 - 29,217,948UniSTS
Marshfield Genetic Map247.97RGD
Marshfield Genetic Map247.97UniSTS
TNG Radiation Hybrid Map221358.0UniSTS
TNG Radiation Hybrid Map221364.0UniSTS
deCODE Assembly Map251.48UniSTS
Stanford-G3 RH Map21265.0UniSTS
Whitehead-RH Map2163.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2194.4UniSTS
D2S1788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37236,260,306 - 36,260,495UniSTSGRCh37
Build 36236,113,810 - 36,113,999RGDNCBI36
Celera236,096,307 - 36,096,496RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p22.3-p21UniSTS
HuRef235,993,843 - 35,994,000UniSTS
Marshfield Genetic Map255.51UniSTS
Marshfield Genetic Map255.51RGD
Whitehead-YAC Contig Map2 UniSTS
DXS8060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,464,009 - 73,464,142UniSTSGRCh37
Build 36X73,380,734 - 73,380,867RGDNCBI36
CeleraX73,747,478 - 73,747,613RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXq13.2UniSTS
HuRefX67,099,745 - 67,099,880UniSTS
Marshfield Genetic MapX57.37UniSTS
Marshfield Genetic MapX57.37RGD
Genethon Genetic MapX96.2UniSTS
deCODE Assembly MapX85.77UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1678
Count of miRNA genes:638
Interacting mature miRNAs:736
Transcripts:ENST00000323022, ENST00000376251, ENST00000376265, ENST00000480889, ENST00000481035, ENST00000486943
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 34 1 8 1 1 1
Low 644 294 467 87 924 18 1355 51 1819 76 299 987 69 383 803 1
Below cutoff 1741 2671 1133 429 908 340 2895 2075 1827 261 1074 519 96 821 1954 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA019975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC232271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF201304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM931932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF701915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323022   ⟹   ENSP00000321618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,205,063 - 49,233,340 (-)Ensembl
RefSeq Acc Id: ENST00000376251   ⟹   ENSP00000365427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,205,063 - 49,233,309 (-)Ensembl
RefSeq Acc Id: ENST00000376265   ⟹   ENSP00000365441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,205,063 - 49,233,371 (-)Ensembl
RefSeq Acc Id: ENST00000480889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,222,258 - 49,223,143 (-)Ensembl
RefSeq Acc Id: ENST00000481035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,209,661 - 49,210,999 (-)Ensembl
RefSeq Acc Id: ENST00000486943   ⟹   ENSP00000418961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,208,816 - 49,209,712 (-)Ensembl
RefSeq Acc Id: NM_001256789   ⟹   NP_001243718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,205,063 - 49,233,340 (-)NCBI
GRCh37X49,061,523 - 49,089,833 (-)NCBI
HuRefX46,718,790 - 46,746,229 (-)NCBI
CHM1_1X49,093,823 - 49,122,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256790   ⟹   NP_001243719
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,205,063 - 49,233,340 (-)NCBI
GRCh37X49,061,523 - 49,089,833 (-)NCBI
HuRefX46,718,790 - 46,746,229 (-)NCBI
CHM1_1X49,093,823 - 49,122,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005183   ⟹   NP_005174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,205,063 - 49,233,340 (-)NCBI
GRCh37X49,061,523 - 49,089,833 (-)ENTREZGENE
Build 36X48,948,467 - 48,976,777 (-)NCBI Archive
HuRefX46,718,790 - 46,746,229 (-)ENTREZGENE
CHM1_1X49,093,823 - 49,122,134 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543983   ⟹   XP_011542285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,205,063 - 49,233,404 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029836   ⟹   XP_016885325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,205,063 - 49,219,345 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005174   ⟸   NM_005183
- Peptide Label: isoform 1
- UniProtKB: O60840 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243718   ⟸   NM_001256789
- Peptide Label: isoform 2
- UniProtKB: O60840 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243719   ⟸   NM_001256790
- Peptide Label: isoform 3
- UniProtKB: O60840 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542285   ⟸   XM_011543983
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885325   ⟸   XM_017029836
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000321618   ⟸   ENST00000323022
RefSeq Acc Id: ENSP00000365427   ⟸   ENST00000376251
RefSeq Acc Id: ENSP00000365441   ⟸   ENST00000376265
RefSeq Acc Id: ENSP00000418961   ⟸   ENST00000486943
Protein Domains
CAC1F_C

Promoters
RGD ID:13605300
Promoter ID:EPDNEW_H28834
Type:multiple initiation site
Name:CACNA1F_1
Description:calcium voltage-gated channel subunit alpha1 F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,233,340 - 49,233,400EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) duplication Congenital stationary night blindness, type 2A [RCV000020629]|not provided [RCV000790658] ChrX:49216484..49216485 [GRCh38]
ChrX:49072944..49072945 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) single nucleotide variant Congenital stationary night blindness, type 2A [RCV000012380] ChrX:49228048 [GRCh38]
ChrX:49084510 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) single nucleotide variant Congenital stationary night blindness [RCV000504913]|Congenital stationary night blindness, type 2A [RCV000012381]|Retinal dystrophy [RCV001073304] ChrX:49218511 [GRCh38]
ChrX:49074970 [GRCh37]
ChrX:Xp11.23
pathogenic
CACNA1F, 1-BP INS, 991C insertion Congenital stationary night blindness, type 2A [RCV000012382] ChrX:Xp11.23 pathogenic
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) single nucleotide variant Congenital stationary night blindness [RCV001002915]|Congenital stationary night blindness, type 2A [RCV000012383] ChrX:49219344 [GRCh38]
ChrX:49075803 [GRCh37]
ChrX:Xp11.23
pathogenic
CACNA1F, 1-BP DEL, 4548C deletion Congenital stationary night blindness, type 2A [RCV000012384] ChrX:Xp11.23 pathogenic
NM_005183.4(CACNA1F):c.2267T>C (p.Ile756Thr) single nucleotide variant Congenital stationary night blindness, type 2A, severe [RCV000012385] ChrX:49222576 [GRCh38]
ChrX:49079035 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG indel X-linked cone-rod dystrophy 3 [RCV000012386] ChrX:49215241..49215245 [GRCh38]
ChrX:49071701..49071705 [GRCh37]
ChrX:Xp11.23
pathogenic
CACNA1F, 425-BP DEL deletion Ocular albinism, type II [RCV000012387] ChrX:Xp11.23 pathogenic
NM_001256789.3(CACNA1F):c.3373G>A (p.Val1125Ile) single nucleotide variant not provided [RCV001211944] ChrX:49215407 [GRCh38]
ChrX:49071867 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_005183.3(CACNA1F):c.4858G>T (p.Gly1620Cys) single nucleotide variant Malignant melanoma [RCV000073208] ChrX:49209390 [GRCh38]
ChrX:49065850 [GRCh37]
ChrX:48952794 [NCBI36]
ChrX:Xp11.23
not provided
NM_005183.3(CACNA1F):c.4195G>A (p.Asp1399Asn) single nucleotide variant Malignant melanoma [RCV000073209] ChrX:49211420 [GRCh38]
ChrX:49067880 [GRCh37]
ChrX:48954824 [NCBI36]
ChrX:Xp11.23
not provided
NM_005183.3(CACNA1F):c.289C>T (p.Leu97Phe) single nucleotide variant Malignant melanoma [RCV000073210] ChrX:49231294 [GRCh38]
ChrX:49087756 [GRCh37]
ChrX:48974700 [NCBI36]
ChrX:Xp11.23
not provided
NM_001256789.3(CACNA1F):c.4128G>T (p.Glu1376Asp) single nucleotide variant not provided [RCV000086957] ChrX:49211454 [GRCh38]
ChrX:49067914 [GRCh37]
ChrX:Xp11.23
not provided
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His) single nucleotide variant not provided [RCV000086958]|not specified [RCV000241760] ChrX:49205282 [GRCh38]
ChrX:49061742 [GRCh37]
ChrX:Xp11.23
benign|not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_005183.4(CACNA1F):c.3118T>C (p.Cys1040Arg) single nucleotide variant not specified [RCV000171437] ChrX:49217759 [GRCh38]
ChrX:49074218 [GRCh37]
ChrX:Xp11.23
likely pathogenic|likely benign
NM_005183.4(CACNA1F):c.209G>A (p.Arg70Gln) single nucleotide variant not specified [RCV000171438] ChrX:49231744 [GRCh38]
ChrX:49088206 [GRCh37]
ChrX:Xp11.23
likely pathogenic|likely benign
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) single nucleotide variant Ocular albinism, type II [RCV000787554]|Retinal dystrophy [RCV001075342]|not provided [RCV000175796] ChrX:49231709 [GRCh38]
ChrX:49088171 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.2734A>G (p.Met912Val) single nucleotide variant not provided [RCV001303726] ChrX:49218735 [GRCh38]
ChrX:49075194 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5386T>C (p.Cys1796Arg) single nucleotide variant not provided [RCV001312579] ChrX:49206597 [GRCh38]
ChrX:49063058 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.142C>A (p.Pro48Thr) single nucleotide variant not provided [RCV001312667] ChrX:49231811 [GRCh38]
ChrX:49088273 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001256789.3(CACNA1F):c.2391_2393GGA[8] (p.Glu814dup) microsatellite not specified [RCV000152911] ChrX:49219765..49219766 [GRCh38]
ChrX:49076224..49076225 [GRCh37]
ChrX:Xp11.23
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005183.4(CACNA1F):c.3472-18C>T single nucleotide variant not provided [RCV000514281] ChrX:49215262 [GRCh38]
ChrX:49071722 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.2673+3G>A single nucleotide variant not provided [RCV000835628]|not specified [RCV000152910] ChrX:49219318 [GRCh38]
ChrX:49075777 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_001256789.3(CACNA1F):c.5017G>T (p.Gly1673Trp) single nucleotide variant not provided [RCV000905578]|not specified [RCV000152908] ChrX:49208621 [GRCh38]
ChrX:49065081 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu) single nucleotide variant not specified [RCV000152912] ChrX:49231912 [GRCh38]
ChrX:49088374 [GRCh37]
ChrX:Xp11.23
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.5253G>C (p.Gln1751His) single nucleotide variant not provided [RCV000152907] ChrX:49206834 [GRCh38]
ChrX:49063295 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) single nucleotide variant not provided [RCV000152909] ChrX:49212679 [GRCh38]
ChrX:49069139 [GRCh37]
ChrX:Xp11.23
conflicting interpretations of pathogenicity|uncertain significance
NM_001256789.3(CACNA1F):c.272G>T (p.Trp91Leu) single nucleotide variant not provided [RCV000175798] ChrX:49231681 [GRCh38]
ChrX:49088143 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2387-19del deletion not provided [RCV000176081] ChrX:49219809 [GRCh38]
ChrX:49076268 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001197452]|Ocular albinism, type II [RCV000787553]|not provided [RCV000254855] ChrX:49224798 [GRCh38]
ChrX:49081260 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter) single nucleotide variant not provided [RCV000255201] ChrX:49231805 [GRCh38]
ChrX:49088267 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) single nucleotide variant not provided [RCV000178666] ChrX:49205211 [GRCh38]
ChrX:49061671 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=) single nucleotide variant not provided [RCV000912509]|not specified [RCV000178667] ChrX:49205338 [GRCh38]
ChrX:49061798 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001256789.3(CACNA1F):c.571C>G (p.Pro191Ala) single nucleotide variant not provided [RCV000178904] ChrX:49230560 [GRCh38]
ChrX:49087022 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) single nucleotide variant Abnormality of neuronal migration [RCV000201365] ChrX:49226025 [GRCh38]
ChrX:49082487 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) single nucleotide variant X-linked cone-rod dystrophy 3 [RCV000201353] ChrX:49219668 [GRCh38]
ChrX:49076127 [GRCh37]
ChrX:Xp11.23
pathogenic
NG_009095.2:g.(16929_16947)_(21383_21401)del deletion X-linked cone-rod dystrophy 3 [RCV000201391] ChrX:49216984..49221420 [GRCh38]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_001256789.3(CACNA1F):c.4690G>T (p.Glu1564Ter) single nucleotide variant not provided [RCV000239037] ChrX:49209941 [GRCh38]
ChrX:49066401 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.867G>A (p.Gly289=) single nucleotide variant Retinitis pigmentosa [RCV000515688] ChrX:49228398 [GRCh38]
ChrX:49084860 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) single nucleotide variant Congenital stationary night blindness, type 2A [RCV000990822]|not provided [RCV000726719]|not specified [RCV000242863] ChrX:49224768 [GRCh38]
ChrX:49081230 [GRCh37]
ChrX:Xp11.23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005183.2(CACNA1F):c.276delG (p.Lys92Asnfs) deletion not provided [RCV000297897] ChrX:49231307 [GRCh38]
ChrX:49087769 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) single nucleotide variant Cone-rod dystrophy [RCV000787802]|Congenital stationary night blindness, type 2A [RCV000990821]|not provided [RCV000964566]|not specified [RCV000343378] ChrX:49222720 [GRCh38]
ChrX:49079179 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) single nucleotide variant not provided [RCV000343398] ChrX:49218705 [GRCh38]
ChrX:49075164 [GRCh37]
ChrX:Xp11.23
conflicting interpretations of pathogenicity|uncertain significance
NM_001256789.3(CACNA1F):c.5154C>A (p.Ile1718=) single nucleotide variant not provided [RCV000384574] ChrX:49207082 [GRCh38]
ChrX:49063543 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=) single nucleotide variant not provided [RCV000885754]|not specified [RCV000358371] ChrX:49205209 [GRCh38]
ChrX:49061669 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) single nucleotide variant not provided [RCV000914331]|not specified [RCV000402419] ChrX:49211402 [GRCh38]
ChrX:49067862 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.3037-2A>G single nucleotide variant X-linked cone-rod dystrophy 3 [RCV000408778] ChrX:49217809 [GRCh38]
ChrX:49074268 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=) single nucleotide variant not provided [RCV000978399]|not specified [RCV000266133] ChrX:49205709 [GRCh38]
ChrX:49062169 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001256789.3(CACNA1F):c.2415_2423AGAGGAAGA[4] (p.Glu812_Glu814dup) microsatellite not provided [RCV001059216]|not specified [RCV000368808] ChrX:49219735..49219736 [GRCh38]
ChrX:49076194..49076195 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001256789.3(CACNA1F):c.1042C>T (p.Pro348Ser) single nucleotide variant not provided [RCV000489079] ChrX:49228112 [GRCh38]
ChrX:49084574 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4841A>G (p.Gln1614Arg) single nucleotide variant not provided [RCV000489168] ChrX:49209374 [GRCh38]
ChrX:49065834 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3236+1G>A single nucleotide variant Ocular albinism, type II [RCV001253530]|not provided [RCV000487746] ChrX:49216381 [GRCh38]
ChrX:49072841 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001256789.3(CACNA1F):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000488109] ChrX:49233309 [GRCh38]
ChrX:49089771 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001270455] ChrX:49231708 [GRCh38]
ChrX:49088170 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs) deletion Congenital stationary night blindness, type 2A [RCV001270457] ChrX:49224915 [GRCh38]
ChrX:49081377 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2544-3C>G single nucleotide variant not provided [RCV000490171] ChrX:49219453 [GRCh38]
ChrX:49075912 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.3263A>G (p.Tyr1088Cys) single nucleotide variant not provided [RCV000308469] ChrX:49215517 [GRCh38]
ChrX:49071977 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys) single nucleotide variant Retinal dystrophy [RCV001073437]|not provided [RCV000359337] ChrX:49218693 [GRCh38]
ChrX:49075152 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2543+1G>A single nucleotide variant not provided [RCV000360556] ChrX:49219633 [GRCh38]
ChrX:49076092 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.5002_5003GT[1] (p.Leu1670fs) microsatellite not provided [RCV000598929] ChrX:49208633..49208634 [GRCh38]
ChrX:49065093..49065094 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=) single nucleotide variant not provided [RCV000969874]|not specified [RCV000730164] ChrX:49214216 [GRCh38]
ChrX:49070676 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001199353]|Myopia (disease) [RCV000415143] ChrX:49230343 [GRCh38]
ChrX:49086805 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.2461C>T (p.Leu821Phe) single nucleotide variant not provided [RCV000732339] ChrX:49219716 [GRCh38]
ChrX:49076175 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.85T>G (p.Cys29Gly) single nucleotide variant not provided [RCV000731514] ChrX:49231868 [GRCh38]
ChrX:49088330 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs) duplication Congenital stationary night blindness [RCV001002921] ChrX:49231759..49231760 [GRCh38]
ChrX:49088221..49088222 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.3400G>T (p.Glu1134Ter) single nucleotide variant not provided [RCV000413471] ChrX:49215380 [GRCh38]
ChrX:49071840 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2415_2423AGAGGAAGA[2] (p.Glu812_Glu814del) microsatellite not provided [RCV001055564]|not specified [RCV000728080] ChrX:49219736..49219744 [GRCh38]
ChrX:49076195..49076203 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs) deletion Congenital stationary night blindness [RCV000504804] ChrX:49215471..49215472 [GRCh38]
ChrX:49071931..49071932 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu) single nucleotide variant Congenital stationary night blindness [RCV000504818] ChrX:49210636 [GRCh38]
ChrX:49067096 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg) single nucleotide variant not provided [RCV000435155] ChrX:49231862 [GRCh38]
ChrX:49088324 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1433_1463+7del deletion Congenital stationary night blindness [RCV000504896] ChrX:49226402..49226439 [GRCh38]
ChrX:49082864..49082901 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter) single nucleotide variant Abnormality of the eye [RCV000504925] ChrX:49215088 [GRCh38]
ChrX:49071548 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) single nucleotide variant Congenital stationary night blindness [RCV000505008]|not provided [RCV001311072] ChrX:49230253 [GRCh38]
ChrX:49086715 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs) deletion Congenital stationary night blindness [RCV000505071] ChrX:49227028 [GRCh38]
ChrX:49083490 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs) deletion Congenital stationary night blindness [RCV000505088] ChrX:49226051..49226055 [GRCh38]
ChrX:49082513..49082517 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val) single nucleotide variant not provided [RCV000424872] ChrX:49219733 [GRCh38]
ChrX:49076192 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) single nucleotide variant Progressive cone dystrophy (without rod involvement) [RCV000787555]|Retinal dystrophy [RCV000505118] ChrX:49212756 [GRCh38]
ChrX:49069216 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.946_948TTC[2] (p.Phe318del) microsatellite Cone-rod degeneration [RCV001002920]|Congenital stationary night blindness [RCV000505132]|not provided [RCV000521278] ChrX:49228311..49228313 [GRCh38]
ChrX:49084773..49084775 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys) single nucleotide variant Congenital stationary night blindness [RCV000505176] ChrX:49216438 [GRCh38]
ChrX:49072898 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.2666G>A (p.Arg889His) single nucleotide variant not provided [RCV000425386] ChrX:49219328 [GRCh38]
ChrX:49075787 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3709-2A>C single nucleotide variant not provided [RCV000436235] ChrX:49213904 [GRCh38]
ChrX:49070364 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter) insertion Congenital stationary night blindness [RCV000504710] ChrX:49226673..49226674 [GRCh38]
ChrX:49083135..49083136 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.2733+1G>A single nucleotide variant Congenital stationary night blindness [RCV000504722] ChrX:49218881 [GRCh38]
ChrX:49075340 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.1879C>T (p.His627Tyr) single nucleotide variant not provided [RCV000483687] ChrX:49223135 [GRCh38]
ChrX:49079594 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu) single nucleotide variant not provided [RCV000483436] ChrX:49217914 [GRCh38]
ChrX:49074373 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) single nucleotide variant Congenital stationary night blindness, type 2A [RCV000990823]|not provided [RCV000999427]|not specified [RCV000454995] ChrX:49226037 [GRCh38]
ChrX:49082499 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr) single nucleotide variant Inborn genetic diseases [RCV000624134] ChrX:49225954 [GRCh38]
ChrX:49082416 [GRCh37]
ChrX:Xp11.23
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe) single nucleotide variant X-linked cone-rod dystrophy 3 [RCV000585757] ChrX:49223081 [GRCh38]
ChrX:49079540 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter) single nucleotide variant Retinal dystrophy [RCV001074649]|not provided [RCV000595589] ChrX:49226056 [GRCh38]
ChrX:49082518 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001256789.3(CACNA1F):c.4682C>A (p.Pro1561Gln) single nucleotide variant not provided [RCV000585402] ChrX:49209949 [GRCh38]
ChrX:49066409 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.3181G>C (p.Val1061Leu) single nucleotide variant not provided [RCV000659160] ChrX:49216437 [GRCh38]
ChrX:49072897 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) single nucleotide variant Congenital stationary night blindness, type 2A [RCV000714782]|Ocular albinism, type II [RCV000714780]|X-linked cone-rod dystrophy 3 [RCV000714781] ChrX:49228046 [GRCh38]
ChrX:49084508 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg) single nucleotide variant Retinitis pigmentosa [RCV000678530] ChrX:49217966 [GRCh38]
ChrX:49074425 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) single nucleotide variant Congenital stationary night blindness, type 2A [RCV000754588] ChrX:49210604 [GRCh38]
ChrX:49067064 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.123G>A (p.Gly41=) single nucleotide variant not provided [RCV000964095] ChrX:49231830 [GRCh38]
ChrX:49088292 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs) deletion Congenital stationary night blindness [RCV001002914] ChrX:49218697 [GRCh38]
ChrX:49075156 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001256789.3(CACNA1F):c.2789_2790AT[1] (p.Met931fs) microsatellite not provided [RCV000762637] ChrX:49218677..49218678 [GRCh38]
ChrX:49075136..49075137 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.2086-2A>G single nucleotide variant Congenital stationary night blindness [RCV001199446]|not provided [RCV000762638] ChrX:49222840 [GRCh38]
ChrX:49079299 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.3868A>G (p.Met1290Val) single nucleotide variant not provided [RCV001053787] ChrX:49212741 [GRCh38]
ChrX:49069201 [GRCh37]
ChrX:Xp11.23
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001256789.3(CACNA1F):c.859G>C (p.Gly287Arg) single nucleotide variant not provided [RCV001056779] ChrX:49228406 [GRCh38]
ChrX:49084868 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3833G>A (p.Arg1278His) single nucleotide variant not provided [RCV001057615] ChrX:49212776 [GRCh38]
ChrX:49069236 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3236+3G>A single nucleotide variant Macular dystrophy [RCV000787803]|not provided [RCV001323875] ChrX:49216379 [GRCh38]
ChrX:49072839 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) single nucleotide variant Congenital stationary night blindness [RCV001199447]|not provided [RCV000999426] ChrX:49206611 [GRCh38]
ChrX:49063072 [GRCh37]
ChrX:Xp11.23
pathogenic|uncertain significance
NM_001256789.3(CACNA1F):c.5757C>T (p.Arg1919=) single nucleotide variant not provided [RCV000929433] ChrX:49205281 [GRCh38]
ChrX:49061741 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.4953+9A>G single nucleotide variant not provided [RCV000929226] ChrX:49209253 [GRCh38]
ChrX:49065713 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.1935C>T (p.Ile645=) single nucleotide variant not provided [RCV000929227] ChrX:49223079 [GRCh38]
ChrX:49079538 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.827C>T (p.Ala276Val) single nucleotide variant not provided [RCV000914399] ChrX:49228438 [GRCh38]
ChrX:49084900 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.4527G>A (p.Thr1509=) single nucleotide variant not provided [RCV000970391] ChrX:49210362 [GRCh38]
ChrX:49066822 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.2391_2393GGA[6] (p.Glu814del) microsatellite not provided [RCV000950302] ChrX:49219766..49219768 [GRCh38]
ChrX:49076225..49076227 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.2544-2A>T single nucleotide variant Retinal dystrophy [RCV001075266] ChrX:49219452 [GRCh38]
ChrX:49075911 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.5721G>A (p.Val1907=) single nucleotide variant not provided [RCV001043765] ChrX:49205317 [GRCh38]
ChrX:49061777 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5369C>T (p.Pro1790Leu) single nucleotide variant not provided [RCV001066935] ChrX:49206614 [GRCh38]
ChrX:49063075 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter) single nucleotide variant Retinal dystrophy [RCV001075643]|not provided [RCV001058275] ChrX:49212747 [GRCh38]
ChrX:49069207 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2866A>T (p.Ile956Phe) single nucleotide variant not provided [RCV001044588] ChrX:49218517 [GRCh38]
ChrX:49074976 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.40C>A (p.Pro14Thr) single nucleotide variant not provided [RCV001053119] ChrX:49231913 [GRCh38]
ChrX:49088375 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4982G>A (p.Arg1661His) single nucleotide variant not provided [RCV001067887] ChrX:49208656 [GRCh38]
ChrX:49065116 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.953T>C (p.Phe318Ser) single nucleotide variant not provided [RCV001068301] ChrX:49228312 [GRCh38]
ChrX:49084774 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.960G>A (p.Met320Ile) single nucleotide variant not provided [RCV001068917] ChrX:49228305 [GRCh38]
ChrX:49084767 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4222G>A (p.Ala1408Thr) single nucleotide variant not provided [RCV001046925] ChrX:49211360 [GRCh38]
ChrX:49067820 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4008+1G>A single nucleotide variant Retinal dystrophy [RCV001073815] ChrX:49212242 [GRCh38]
ChrX:49068702 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.2741T>A (p.Val914Glu) single nucleotide variant not provided [RCV001042499] ChrX:49218728 [GRCh38]
ChrX:49075187 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser) single nucleotide variant not provided [RCV001042500] ChrX:49205723 [GRCh38]
ChrX:49062183 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter) single nucleotide variant Retinal dystrophy [RCV001073941] ChrX:49215374 [GRCh38]
ChrX:49071834 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.4490T>C (p.Leu1497Pro) single nucleotide variant Retinal dystrophy [RCV001074388] ChrX:49210399 [GRCh38]
ChrX:49066859 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.5596T>C (p.Cys1866Arg) single nucleotide variant not provided [RCV001035180] ChrX:49205690 [GRCh38]
ChrX:49062150 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter) single nucleotide variant Retinal dystrophy [RCV001074580] ChrX:49227063 [GRCh38]
ChrX:49083525 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.1369+15A>G single nucleotide variant Retinal dystrophy [RCV001074623] ChrX:49226595 [GRCh38]
ChrX:49083057 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter) single nucleotide variant Retinal dystrophy [RCV001074671]|not provided [RCV001210461] ChrX:49218502 [GRCh38]
ChrX:49074961 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.1234G>T (p.Glu412Ter) single nucleotide variant not provided [RCV001036848] ChrX:49227012 [GRCh38]
ChrX:49083474 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.3742G>A (p.Ala1248Thr) single nucleotide variant not provided [RCV000961796] ChrX:49213869 [GRCh38]
ChrX:49070329 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.1290C>T (p.Ala430=) single nucleotide variant not provided [RCV000903360] ChrX:49226689 [GRCh38]
ChrX:49083151 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.251C>A (p.Ser84Tyr) single nucleotide variant not provided [RCV000895866] ChrX:49231702 [GRCh38]
ChrX:49088164 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.2929-5C>T single nucleotide variant not provided [RCV000896447] ChrX:49218010 [GRCh38]
ChrX:49074469 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.5160A>G (p.Glu1720=) single nucleotide variant not provided [RCV000924396] ChrX:49207076 [GRCh38]
ChrX:49063537 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.1596G>A (p.Thr532=) single nucleotide variant not provided [RCV000963538] ChrX:49225964 [GRCh38]
ChrX:49082426 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.4363T>C (p.Trp1455Arg) single nucleotide variant Ocular albinism, type II [RCV000787801] ChrX:49210990 [GRCh38]
ChrX:49067450 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001256789.3(CACNA1F):c.5309T>G (p.Met1770Arg) single nucleotide variant not provided [RCV001091507] ChrX:49206778 [GRCh38]
ChrX:49063239 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.3863G>C (p.Arg1288Pro) single nucleotide variant not provided [RCV001091508] ChrX:49212746 [GRCh38]
ChrX:49069206 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.11:g.49219318C>T single nucleotide variant not provided [RCV000835628] ChrX:49075777 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.818-1G>A single nucleotide variant Retinitis pigmentosa [RCV000787556] ChrX:49228448 [GRCh38]
ChrX:49084910 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.393G>A (p.Glu131=) single nucleotide variant not provided [RCV000916579] ChrX:49230978 [GRCh38]
ChrX:49087440 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.5359+1G>A single nucleotide variant not provided [RCV001056782] ChrX:49206727 [GRCh38]
ChrX:49063188 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001256789.3(CACNA1F):c.7G>C (p.Glu3Gln) single nucleotide variant not provided [RCV001055231] ChrX:49233303 [GRCh38]
ChrX:49089765 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1276+34G>A single nucleotide variant Cone-rod degeneration [RCV001002918] ChrX:49226936 [GRCh38]
ChrX:49083398 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.564C>T (p.Gly188=) single nucleotide variant not provided [RCV001061038] ChrX:49230567 [GRCh38]
ChrX:49087029 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5848C>T (p.Arg1950Cys) single nucleotide variant not provided [RCV001052838] ChrX:49205190 [GRCh38]
ChrX:49061650 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1904T>G (p.Val635Gly) single nucleotide variant not provided [RCV001204621] ChrX:49223110 [GRCh38]
ChrX:49079569 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3967A>G (p.Ile1323Val) single nucleotide variant not provided [RCV001238693] ChrX:49212284 [GRCh38]
ChrX:49068744 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4255T>A (p.Phe1419Ile) single nucleotide variant not provided [RCV001240121] ChrX:49211327 [GRCh38]
ChrX:49067787 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1618C>T (p.His540Tyr) single nucleotide variant not provided [RCV001209197] ChrX:49225942 [GRCh38]
ChrX:49082404 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4141A>G (p.Ser1381Gly) single nucleotide variant not provided [RCV001208393] ChrX:49211441 [GRCh38]
ChrX:49067901 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3016A>G (p.Ile1006Val) single nucleotide variant not provided [RCV001226477] ChrX:49217918 [GRCh38]
ChrX:49074377 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5597G>T (p.Cys1866Phe) single nucleotide variant not provided [RCV001234388] ChrX:49205689 [GRCh38]
ChrX:49062149 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4757G>A (p.Arg1586Gln) single nucleotide variant not provided [RCV001203446] ChrX:49209693 [GRCh38]
ChrX:49066153 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1315C>T (p.Arg439Cys) single nucleotide variant not provided [RCV001206241] ChrX:49226664 [GRCh38]
ChrX:49083126 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2959C>A (p.Arg987=) single nucleotide variant not provided [RCV001234574] ChrX:49217975 [GRCh38]
ChrX:49074434 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2949T>G (p.Phe983Leu) single nucleotide variant not provided [RCV001226902] ChrX:49217985 [GRCh38]
ChrX:49074444 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3391G>T (p.Ala1131Ser) single nucleotide variant not provided [RCV001234754] ChrX:49215389 [GRCh38]
ChrX:49071849 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2762G>A (p.Arg921His) single nucleotide variant not provided [RCV001223240] ChrX:49218707 [GRCh38]
ChrX:49075166 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3256G>A (p.Asp1086Asn) single nucleotide variant not provided [RCV001239963] ChrX:49215524 [GRCh38]
ChrX:49071984 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.140C>T (p.Thr47Ile) single nucleotide variant not provided [RCV001239499] ChrX:49231813 [GRCh38]
ChrX:49088275 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.370A>G (p.Asn124Asp) single nucleotide variant not provided [RCV001238217] ChrX:49231213 [GRCh38]
ChrX:49087675 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1014+6G>A single nucleotide variant not provided [RCV001235239] ChrX:49228245 [GRCh38]
ChrX:49084707 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.897C>A (p.Cys299Ter) single nucleotide variant not provided [RCV001210231] ChrX:49228368 [GRCh38]
ChrX:49084830 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.5441G>A (p.Arg1814His) single nucleotide variant not provided [RCV001242099] ChrX:49206542 [GRCh38]
ChrX:49063003 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1810G>A (p.Ala604Thr) single nucleotide variant not provided [RCV001232298] ChrX:49224828 [GRCh38]
ChrX:49081290 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4101-3C>A single nucleotide variant not provided [RCV001238432] ChrX:49211484 [GRCh38]
ChrX:49067944 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5698T>G (p.Phe1900Val) single nucleotide variant not provided [RCV001202166] ChrX:49205340 [GRCh38]
ChrX:49061800 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2077G>T (p.Val693Phe) single nucleotide variant not provided [RCV001225673] ChrX:49222937 [GRCh38]
ChrX:49079396 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.955G>A (p.Ala319Thr) single nucleotide variant not provided [RCV001219478] ChrX:49228310 [GRCh38]
ChrX:49084772 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001256789.3(CACNA1F):c.2896C>T (p.Leu966Phe) single nucleotide variant not provided [RCV001230193] ChrX:49218487 [GRCh38]
ChrX:49074946 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3438+10G>A single nucleotide variant not provided [RCV000891947] ChrX:49215332 [GRCh38]
ChrX:49071792 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.4467A>C (p.Pro1489=) single nucleotide variant not provided [RCV000895849] ChrX:49210608 [GRCh38]
ChrX:49067068 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.1382C>T (p.Ala461Val) single nucleotide variant not provided [RCV000931220] ChrX:49226490 [GRCh38]
ChrX:49082952 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.1809T>C (p.Gly603=) single nucleotide variant not provided [RCV000948212] ChrX:49224829 [GRCh38]
ChrX:49081291 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.3276C>T (p.His1092=) single nucleotide variant not provided [RCV000948213] ChrX:49215504 [GRCh38]
ChrX:49071964 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.3192C>T (p.Ala1064=) single nucleotide variant not provided [RCV000899332] ChrX:49216426 [GRCh38]
ChrX:49072886 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.1979C>G (p.Ser660Cys) single nucleotide variant not provided [RCV000926641] ChrX:49223035 [GRCh38]
ChrX:49079494 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.3389G>A (p.Arg1130His) single nucleotide variant not provided [RCV000931402] ChrX:49215391 [GRCh38]
ChrX:49071851 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.2039G>A (p.Arg680Gln) single nucleotide variant not provided [RCV001242121] ChrX:49222975 [GRCh38]
ChrX:49079434 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4150G>A (p.Gly1384Arg) single nucleotide variant not provided [RCV001244344] ChrX:49211432 [GRCh38]
ChrX:49067892 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4142G>A (p.Ser1381Asn) single nucleotide variant not provided [RCV001067530] ChrX:49211440 [GRCh38]
ChrX:49067900 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5447G>A (p.Arg1816Gln) single nucleotide variant not provided [RCV001230133] ChrX:49206536 [GRCh38]
ChrX:49062997 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1415G>A (p.Gly472Asp) single nucleotide variant not provided [RCV001212707] ChrX:49226457 [GRCh38]
ChrX:49082919 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.662C>G (p.Pro221Arg) single nucleotide variant not provided [RCV001242949] ChrX:49230469 [GRCh38]
ChrX:49086931 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1824G>C (p.Leu608Phe) single nucleotide variant not provided [RCV001203665] ChrX:49224814 [GRCh38]
ChrX:49081276 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2342G>A (p.Gly781Asp) single nucleotide variant not provided [RCV001219950] ChrX:49220517 [GRCh38]
ChrX:49076976 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1538G>A (p.Arg513Gln) single nucleotide variant not provided [RCV001227807] ChrX:49226022 [GRCh38]
ChrX:49082484 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1291G>A (p.Glu431Lys) single nucleotide variant not provided [RCV001214027] ChrX:49226688 [GRCh38]
ChrX:49083150 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3895G>A (p.Gly1299Ser) single nucleotide variant not provided [RCV001237830] ChrX:49212714 [GRCh38]
ChrX:49069174 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001196638] ChrX:49223078 [GRCh38]
ChrX:49079537 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3871C>T (p.Arg1291Trp) single nucleotide variant not provided [RCV001238056] ChrX:49212738 [GRCh38]
ChrX:49069198 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3061G>A (p.Glu1021Lys) single nucleotide variant not provided [RCV001209927] ChrX:49217783 [GRCh38]
ChrX:49074242 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.248G>A (p.Arg83Gln) single nucleotide variant not provided [RCV001065736] ChrX:49231705 [GRCh38]
ChrX:49088167 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg) single nucleotide variant not provided [RCV001241671] ChrX:49227090 [GRCh38]
ChrX:49083552 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5849G>A (p.Arg1950His) single nucleotide variant not provided [RCV001060344] ChrX:49205189 [GRCh38]
ChrX:49061649 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.35C>T (p.Pro12Leu) single nucleotide variant not provided [RCV001066312] ChrX:49231918 [GRCh38]
ChrX:49088380 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3236C>T (p.Ala1079Val) single nucleotide variant not provided [RCV001238566] ChrX:49216382 [GRCh38]
ChrX:49072842 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.811G>A (p.Gly271Arg) single nucleotide variant not provided [RCV000933610] ChrX:49230226 [GRCh38]
ChrX:49086688 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001256789.3(CACNA1F):c.5048G>A (p.Gly1683Glu) single nucleotide variant not provided [RCV000889874] ChrX:49208590 [GRCh38]
ChrX:49065050 [GRCh37]
ChrX:Xp11.23
benign
NM_001256789.3(CACNA1F):c.226_231del (p.Thr76_Leu77del) deletion not provided [RCV000999428] ChrX:49231722..49231727 [GRCh38]
ChrX:49088184..49088189 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu) single nucleotide variant Congenital stationary night blindness [RCV001002910] ChrX:49210621 [GRCh38]
ChrX:49067081 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.2369C>G (p.Ala790Gly) single nucleotide variant not provided [RCV001055977] ChrX:49220490 [GRCh38]
ChrX:49076949 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1118+1G>C single nucleotide variant Congenital stationary night blindness [RCV001199448]|not provided [RCV001091928] ChrX:49228035 [GRCh38]
ChrX:49084497 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2960G>A (p.Arg987Gln) single nucleotide variant not provided [RCV001063925] ChrX:49217974 [GRCh38]
ChrX:49074433 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1751G>A (p.Arg584His) single nucleotide variant not provided [RCV001172006] ChrX:49224887 [GRCh38]
ChrX:49081349 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3813G>A (p.Glu1271=) single nucleotide variant not provided [RCV001057715] ChrX:49212974 [GRCh38]
ChrX:49069434 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4081G>A (p.Ala1361Thr) single nucleotide variant not provided [RCV001058378] ChrX:49211917 [GRCh38]
ChrX:49068377 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4261-9G>A single nucleotide variant Congenital stationary night blindness [RCV001002911] ChrX:49211101 [GRCh38]
ChrX:49067561 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) single nucleotide variant Congenital stationary night blindness [RCV001002912]|not provided [RCV001212865] ChrX:49211947 [GRCh38]
ChrX:49068407 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) single nucleotide variant Congenital stationary night blindness [RCV001002913]|Congenital stationary night blindness, type 2A [RCV001270458] ChrX:49212688 [GRCh38]
ChrX:49069148 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) single nucleotide variant Congenital stationary night blindness [RCV001002917] ChrX:49222585 [GRCh38]
ChrX:49079044 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2427G>T (p.Glu809Asp) single nucleotide variant not provided [RCV001047374] ChrX:49219750 [GRCh38]
ChrX:49076209 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4021G>A (p.Val1341Met) single nucleotide variant Retinal dystrophy [RCV001073637] ChrX:49211977 [GRCh38]
ChrX:49068437 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4343T>A (p.Leu1448His) single nucleotide variant not provided [RCV001234853] ChrX:49211010 [GRCh38]
ChrX:49067470 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3808G>C (p.Gly1270Arg) single nucleotide variant Retinal dystrophy [RCV001074300] ChrX:49212979 [GRCh38]
ChrX:49069439 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4008+8_4008+13del deletion Retinal dystrophy [RCV001074526] ChrX:49212230..49212235 [GRCh38]
ChrX:49068690..49068695 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4161T>G (p.Cys1387Trp) single nucleotide variant Retinal dystrophy [RCV001074554] ChrX:49211421 [GRCh38]
ChrX:49067881 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly) single nucleotide variant Retinal dystrophy [RCV001074558] ChrX:49210328 [GRCh38]
ChrX:49066788 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5230C>T (p.Arg1744Trp) single nucleotide variant Retinal dystrophy [RCV001075681] ChrX:49207006 [GRCh38]
ChrX:49063467 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1778G>A (p.Gly593Asp) single nucleotide variant not provided [RCV001041304] ChrX:49224860 [GRCh38]
ChrX:49081322 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5481G>A (p.Trp1827Ter) single nucleotide variant not provided [RCV001091506] ChrX:49205805 [GRCh38]
ChrX:49062265 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.1651+6C>T single nucleotide variant not provided [RCV001230111] ChrX:49225903 [GRCh38]
ChrX:49082365 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4619G>A (p.Arg1540Gln) single nucleotide variant not provided [RCV001230966] ChrX:49210012 [GRCh38]
ChrX:49066472 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2774G>A (p.Cys925Tyr) single nucleotide variant not provided [RCV001231191] ChrX:49218695 [GRCh38]
ChrX:49075154 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5836T>G (p.Ser1946Ala) single nucleotide variant not provided [RCV001206807] ChrX:49205202 [GRCh38]
ChrX:49061662 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter) single nucleotide variant Congenital stationary night blindness [RCV001002916] ChrX:49219707 [GRCh38]
ChrX:49076166 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn) single nucleotide variant not provided [RCV001231728] ChrX:49205175 [GRCh38]
ChrX:49061635 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.988G>A (p.Glu330Lys) single nucleotide variant not provided [RCV001091929] ChrX:49228277 [GRCh38]
ChrX:49084739 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3140G>A (p.Arg1047Gln) single nucleotide variant not provided [RCV001236110] ChrX:49216478 [GRCh38]
ChrX:49072938 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) single nucleotide variant not provided [RCV001171596] ChrX:49222976 [GRCh38]
ChrX:49079435 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2182A>G (p.Ile728Val) single nucleotide variant not provided [RCV001236212] ChrX:49222742 [GRCh38]
ChrX:49079201 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.511G>A (p.Val171Ile) single nucleotide variant not provided [RCV001044871] ChrX:49230860 [GRCh38]
ChrX:49087322 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4981C>T (p.Arg1661Cys) single nucleotide variant not provided [RCV001232612] ChrX:49208657 [GRCh38]
ChrX:49065117 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr) single nucleotide variant not provided [RCV001045401] ChrX:49230276 [GRCh38]
ChrX:49086738 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5546C>T (p.Ala1849Val) single nucleotide variant not provided [RCV001205189] ChrX:49205740 [GRCh38]
ChrX:49062200 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.522-6C>G single nucleotide variant not provided [RCV001207264] ChrX:49230615 [GRCh38]
ChrX:49087077 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4085T>C (p.Val1362Ala) single nucleotide variant not provided [RCV001046414] ChrX:49211913 [GRCh38]
ChrX:49068373 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2651G>A (p.Arg884Gln) single nucleotide variant not provided [RCV001230583] ChrX:49219343 [GRCh38]
ChrX:49075802 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3332T>C (p.Ile1111Thr) single nucleotide variant not provided [RCV001204441] ChrX:49215448 [GRCh38]
ChrX:49071908 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.842C>T (p.Ser281Leu) single nucleotide variant not provided [RCV001046646] ChrX:49228423 [GRCh38]
ChrX:49084885 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5205A>C (p.Gln1735His) single nucleotide variant not provided [RCV001234246] ChrX:49207031 [GRCh38]
ChrX:49063492 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[5] (p.Glu809_Glu814dup) microsatellite not provided [RCV001245961] ChrX:49219735..49219736 [GRCh38]
ChrX:49076194..49076195 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.449G>T (p.Gly150Val) single nucleotide variant not provided [RCV001069814] ChrX:49230922 [GRCh38]
ChrX:49087384 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.593G>C (p.Gly198Ala) single nucleotide variant Retinal dystrophy [RCV001073845] ChrX:49230538 [GRCh38]
ChrX:49087000 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1015-2A>G single nucleotide variant Cone-rod degeneration [RCV001002919] ChrX:49228141 [GRCh38]
ChrX:49084603 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His) single nucleotide variant not provided [RCV001039447] ChrX:49218692 [GRCh38]
ChrX:49075151 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1343G>A (p.Arg448His) single nucleotide variant not provided [RCV001233517] ChrX:49226636 [GRCh38]
ChrX:49083098 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1772G>A (p.Cys591Tyr) single nucleotide variant not provided [RCV001232429] ChrX:49224866 [GRCh38]
ChrX:49081328 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001270456]|Retinal dystrophy [RCV001075550] ChrX:49216465 [GRCh38]
ChrX:49072925 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001256789.3(CACNA1F):c.1414G>A (p.Gly472Ser) single nucleotide variant not provided [RCV001040910] ChrX:49226458 [GRCh38]
ChrX:49082920 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001197449] ChrX:49219370 [GRCh38]
ChrX:49075829 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs) duplication Retinal dystrophy [RCV001075764] ChrX:49227086..49227087 [GRCh38]
ChrX:49083548..49083549 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.3953A>G (p.Tyr1318Cys) single nucleotide variant not provided [RCV001229582] ChrX:49212298 [GRCh38]
ChrX:49068758 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5248G>A (p.Glu1750Lys) single nucleotide variant not provided [RCV001042056] ChrX:49206839 [GRCh38]
ChrX:49063300 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5336G>A (p.Arg1779His) single nucleotide variant not provided [RCV001203860] ChrX:49206751 [GRCh38]
ChrX:49063212 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1726G>A (p.Ala576Thr) single nucleotide variant not provided [RCV001211204] ChrX:49224912 [GRCh38]
ChrX:49081374 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001262318] ChrX:49224952 [GRCh38]
ChrX:49081414 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001256789.3(CACNA1F):c.2412AGA[1] (p.Glu814del) microsatellite not provided [RCV001313378] ChrX:49219760..49219762 [GRCh38]
ChrX:49076219..49076221 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5810C>T (p.Thr1937Ile) single nucleotide variant not provided [RCV001313379] ChrX:49205228 [GRCh38]
ChrX:49061688 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.302C>T (p.Thr101Ile) single nucleotide variant not provided [RCV001348326] ChrX:49231281 [GRCh38]
ChrX:49087743 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.1582G>A (p.Val528Ile) single nucleotide variant not provided [RCV001349349] ChrX:49225978 [GRCh38]
ChrX:49082440 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5117C>A (p.Thr1706Asn) single nucleotide variant not provided [RCV001313266] ChrX:49208521 [GRCh38]
ChrX:49064981 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4156C>T (p.Arg1386Trp) single nucleotide variant not provided [RCV001303460] ChrX:49211426 [GRCh38]
ChrX:49067886 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4260+2del deletion Ocular albinism, type II [RCV001333361] ChrX:49211320 [GRCh38]
ChrX:49067780 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001270461] ChrX:49206537 [GRCh38]
ChrX:49062998 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.2395G>C (p.Glu799Gln) single nucleotide variant not provided [RCV001350312] ChrX:49219782 [GRCh38]
ChrX:49076241 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1717G>A (p.Gly573Ser) single nucleotide variant not provided [RCV001298420] ChrX:49224921 [GRCh38]
ChrX:49081383 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys) single nucleotide variant not provided [RCV001295812] ChrX:49206755 [GRCh38]
ChrX:49063216 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3633G>T (p.Met1211Ile) single nucleotide variant not provided [RCV001298232] ChrX:49214234 [GRCh38]
ChrX:49070694 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001256789.3(CACNA1F):c.610G>A (p.Ala204Thr) single nucleotide variant not provided [RCV001309030] ChrX:49230521 [GRCh38]
ChrX:49086983 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4988G>A (p.Gly1663Asp) single nucleotide variant not provided [RCV001309115] ChrX:49208650 [GRCh38]
ChrX:49065110 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3511C>G (p.Arg1171Gly) single nucleotide variant not provided [RCV001342150] ChrX:49215172 [GRCh38]
ChrX:49071632 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.396C>G (p.Tyr132Ter) single nucleotide variant not provided [RCV001311073] ChrX:49230975 [GRCh38]
ChrX:49087437 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001256789.3(CACNA1F):c.3269A>G (p.Glu1090Gly) single nucleotide variant not provided [RCV001320420] ChrX:49215511 [GRCh38]
ChrX:49071971 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1420G>A (p.Glu474Lys) single nucleotide variant not provided [RCV001296429] ChrX:49226452 [GRCh38]
ChrX:49082914 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3045C>A (p.Phe1015Leu) single nucleotide variant not provided [RCV001321421] ChrX:49217799 [GRCh38]
ChrX:49074258 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4813G>A (p.Ala1605Thr) single nucleotide variant not provided [RCV001348737] ChrX:49209637 [GRCh38]
ChrX:49066097 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3668C>T (p.Thr1223Ile) single nucleotide variant not provided [RCV001342743] ChrX:49214199 [GRCh38]
ChrX:49070659 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2412_2417del (p.Glu813_Glu814del) deletion not provided [RCV001350038] ChrX:49219760..49219765 [GRCh38]
ChrX:49076219..49076224 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1118+3G>A single nucleotide variant not provided [RCV001352015] ChrX:49228033 [GRCh38]
ChrX:49084495 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001270459] ChrX:49223032 [GRCh38]
ChrX:49079491 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp) single nucleotide variant Congenital stationary night blindness, type 2A [RCV001270460] ChrX:49216436 [GRCh38]
ChrX:49072896 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.1772G>T (p.Cys591Phe) single nucleotide variant not provided [RCV001327389] ChrX:49224866 [GRCh38]
ChrX:49081328 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4429C>T (p.Arg1477Cys) single nucleotide variant not provided [RCV001298015] ChrX:49210646 [GRCh38]
ChrX:49067106 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5548G>A (p.Gly1850Arg) single nucleotide variant not provided [RCV001325659] ChrX:49205738 [GRCh38]
ChrX:49062198 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4310C>T (p.Thr1437Ile) single nucleotide variant not provided [RCV001349149] ChrX:49211043 [GRCh38]
ChrX:49067503 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5308A>G (p.Met1770Val) single nucleotide variant not provided [RCV001321474] ChrX:49206779 [GRCh38]
ChrX:49063240 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1037A>G (p.Glu346Gly) single nucleotide variant not provided [RCV001346308] ChrX:49228117 [GRCh38]
ChrX:49084579 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5612G>C (p.Gly1871Ala) single nucleotide variant not provided [RCV001348594] ChrX:49205674 [GRCh38]
ChrX:49062134 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.199C>T (p.Arg67Trp) single nucleotide variant not provided [RCV001305372] ChrX:49231754 [GRCh38]
ChrX:49088216 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2331C>T (p.Gly777=) single nucleotide variant not provided [RCV001346433] ChrX:49221038 [GRCh38]
ChrX:49077497 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3065C>A (p.Ala1022Asp) single nucleotide variant not provided [RCV001340637] ChrX:49217779 [GRCh38]
ChrX:49074238 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1850G>A (p.Arg617His) single nucleotide variant not provided [RCV001343674] ChrX:49224788 [GRCh38]
ChrX:49081250 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.19G>A (p.Gly7Arg) single nucleotide variant not provided [RCV001321693] ChrX:49233291 [GRCh38]
ChrX:49089753 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.682A>G (p.Asn228Asp) single nucleotide variant not provided [RCV001306569] ChrX:49230355 [GRCh38]
ChrX:49086817 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3364G>T (p.Val1122Leu) single nucleotide variant not provided [RCV001297919] ChrX:49215416 [GRCh38]
ChrX:49071876 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3146G>T (p.Arg1049Leu) single nucleotide variant not provided [RCV001342132] ChrX:49216472 [GRCh38]
ChrX:49072932 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4681C>G (p.Pro1561Ala) single nucleotide variant not provided [RCV001300199] ChrX:49209950 [GRCh38]
ChrX:49066410 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4832G>A (p.Arg1611Gln) single nucleotide variant not provided [RCV001309878] ChrX:49209383 [GRCh38]
ChrX:49065843 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2391GGA[9] (p.Glu813_Glu814dup) microsatellite not provided [RCV001320419] ChrX:49219765..49219766 [GRCh38]
ChrX:49076224..49076225 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.345C>G (p.Phe115Leu) single nucleotide variant not provided [RCV001322009] ChrX:49231238 [GRCh38]
ChrX:49087700 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1513C>G (p.Arg505Gly) single nucleotide variant not provided [RCV001305696] ChrX:49226047 [GRCh38]
ChrX:49082509 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.875G>A (p.Cys292Tyr) single nucleotide variant not provided [RCV001324277] ChrX:49228390 [GRCh38]
ChrX:49084852 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4481G>T (p.Cys1494Phe) single nucleotide variant not provided [RCV001313955] ChrX:49210594 [GRCh38]
ChrX:49067054 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2161A>G (p.Met721Val) single nucleotide variant not provided [RCV001347337] ChrX:49222763 [GRCh38]
ChrX:49079222 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4588+9G>T single nucleotide variant not provided [RCV001351282] ChrX:49210292 [GRCh38]
ChrX:49066752 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_001256789.3(CACNA1F):c.4492G>C (p.Val1498Leu) single nucleotide variant not provided [RCV001300655] ChrX:49210397 [GRCh38]
ChrX:49066857 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1716G>A (p.Leu572=) single nucleotide variant not provided [RCV001325866] ChrX:49224922 [GRCh38]
ChrX:49081384 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3793-3C>A single nucleotide variant not provided [RCV001294563] ChrX:49212997 [GRCh38]
ChrX:49069457 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1427AGG[2] (p.Glu478del) microsatellite not provided [RCV001339167] ChrX:49226437..49226439 [GRCh38]
ChrX:49082899..49082901 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.1369+3G>A single nucleotide variant not provided [RCV001352483] ChrX:49226607 [GRCh38]
ChrX:49083069 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3317T>C (p.Phe1106Ser) single nucleotide variant not provided [RCV001314193] ChrX:49215463 [GRCh38]
ChrX:49071923 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4848G>C (p.Leu1616Phe) single nucleotide variant not provided [RCV001343090] ChrX:49209367 [GRCh38]
ChrX:49065827 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2928+3A>G single nucleotide variant not provided [RCV001337357] ChrX:49218452 [GRCh38]
ChrX:49074911 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5653G>A (p.Asp1885Asn) single nucleotide variant not provided [RCV001346271] ChrX:49205633 [GRCh38]
ChrX:49062093 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5333G>A (p.Arg1778His) single nucleotide variant not provided [RCV001318381] ChrX:49206754 [GRCh38]
ChrX:49063215 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5329C>T (p.Arg1777Cys) single nucleotide variant not provided [RCV001304957] ChrX:49206758 [GRCh38]
ChrX:49063219 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala) single nucleotide variant not provided [RCV001306571] ChrX:49209329 [GRCh38]
ChrX:49065789 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.818-820del deletion Congenital stationary night blindness, type 2A [RCV001270462] ChrX:49229267 [GRCh38]
ChrX:49085729 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001256789.3(CACNA1F):c.3652T>C (p.Phe1218Leu) single nucleotide variant not provided [RCV001307407] ChrX:49214215 [GRCh38]
ChrX:49070675 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3631A>G (p.Met1211Val) single nucleotide variant not provided [RCV001314885] ChrX:49214236 [GRCh38]
ChrX:49070696 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5137G>T (p.Ala1713Ser) single nucleotide variant not provided [RCV001316655] ChrX:49207099 [GRCh38]
ChrX:49063560 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.2681G>T (p.Gly894Val) single nucleotide variant not provided [RCV001325762] ChrX:49218934 [GRCh38]
ChrX:49075393 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3089+3G>C single nucleotide variant not provided [RCV001305919] ChrX:49217752 [GRCh38]
ChrX:49074211 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.3887T>A (p.Leu1296His) single nucleotide variant not provided [RCV001312473] ChrX:49212722 [GRCh38]
ChrX:49069182 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5261C>A (p.Thr1754Asn) single nucleotide variant not provided [RCV001297727] ChrX:49206826 [GRCh38]
ChrX:49063287 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001256789.3(CACNA1F):c.5668G>A (p.Ala1890Thr) single nucleotide variant not provided [RCV001298940] ChrX:49205618 [GRCh38]
ChrX:49062078 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1393 AgrOrtholog
COSMIC CACNA1F COSMIC
Ensembl Genes ENSG00000102001 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321618 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365441 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418961 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376265 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000486943 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot
GTEx ENSG00000102001 GTEx
HGNC ID HGNC:1393 ENTREZGENE
Human Proteome Map CACNA1F Human Proteome Map
InterPro CAC1F_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  VDCC_a1su_IQ UniProtKB/Swiss-Prot
  VDCC_L_a1su UniProtKB/Swiss-Prot
  VDCCAlpha1 UniProtKB/Swiss-Prot
  Volt_channel_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:778 UniProtKB/Swiss-Prot
NCBI Gene 778 ENTREZGENE
OMIM 300071 OMIM
  300110 OMIM
  300476 OMIM
  300600 OMIM
Pfam Ca_chan_IQ UniProtKB/Swiss-Prot
  CAC1F_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
PharmGKB PA26010 PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot
  LVDCCALPHA1 UniProtKB/Swiss-Prot
SMART Ca_chan_IQ UniProtKB/Swiss-Prot
UniProt CAC1F_HUMAN UniProtKB/Swiss-Prot
  H7C549_HUMAN UniProtKB/TrEMBL
  O60840 ENTREZGENE
UniProt Secondary A6NI29 UniProtKB/Swiss-Prot
  F5CIQ9 UniProtKB/Swiss-Prot
  O43901 UniProtKB/Swiss-Prot
  O95226 UniProtKB/Swiss-Prot
  Q9UHB1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 CACNA1F  calcium voltage-gated channel subunit alpha1 F  AIED  Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)  Data Merged 737654 PROVISIONAL
2016-02-10 CACNA1F  calcium voltage-gated channel subunit alpha1 F  CACNA1F  calcium channel, voltage-dependent, L type, alpha 1F subunit  Symbol and/or name change 5135510 APPROVED