FRMD7 (FERM domain containing 7) - Rat Genome Database

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Gene: FRMD7 (FERM domain containing 7) Homo sapiens
Analyze
Symbol: FRMD7
Name: FERM domain containing 7
RGD ID: 1352948
HGNC Page HGNC
Description: Predicted to be involved in regulation of neuron projection development. Localizes to cytosol; nucleoplasm; and plasma membrane. Implicated in congenital nystagmus 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FERM domain-containing protein 7; FLJ43346; NYS; NYS1; nystagmus 1, congenital; RP6-213H19.2; XIPAN
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 EnsemblX132,076,990 - 132,128,020 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX132,076,993 - 132,128,020 (-)EnsemblGRCh38hg38GRCh38
GRCh38X132,074,926 - 132,128,020 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,211,018 - 131,262,048 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,038,704 - 131,089,731 (-)NCBINCBI36hg18NCBI36
CeleraX131,597,430 - 131,648,459 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,615,465 - 120,666,154 (-)NCBIHuRef
CHM1_1X131,122,591 - 131,173,623 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2063919   PMID:10090899   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16240070   PMID:17013395   PMID:17397053   PMID:17768376   PMID:17846367   PMID:17893669  
PMID:17962394   PMID:18029348   PMID:18087240   PMID:18246032   PMID:18247295   PMID:18372314   PMID:18431453   PMID:19072571   PMID:19892780   PMID:20301748   PMID:20450309   PMID:21220551  
PMID:21303855   PMID:21365021   PMID:21386928   PMID:21746984   PMID:21873635   PMID:22065930   PMID:22128244   PMID:22262942   PMID:22490987   PMID:22664934   PMID:23406872   PMID:23733424  
PMID:23946638   PMID:23967341   PMID:24169426   PMID:24434814   PMID:24513357   PMID:24688117   PMID:25678693   PMID:25916882   PMID:26268155   PMID:27036142   PMID:28378818   PMID:28623544  
PMID:28656292   PMID:30015830   PMID:30025138   PMID:30576400   PMID:30616528   PMID:30618027   PMID:30639242   PMID:30890130   PMID:30942644   PMID:31495972   PMID:32296183   PMID:32446246  


Genomics

Comparative Map Data
FRMD7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX132,076,990 - 132,128,020 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX132,076,993 - 132,128,020 (-)EnsemblGRCh38hg38GRCh38
GRCh38X132,074,926 - 132,128,020 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,211,018 - 131,262,048 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,038,704 - 131,089,731 (-)NCBINCBI36hg18NCBI36
CeleraX131,597,430 - 131,648,459 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,615,465 - 120,666,154 (-)NCBIHuRef
CHM1_1X131,122,591 - 131,173,623 (-)NCBICHM1_1
Frmd7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X49,980,044 - 50,032,493 (-)NCBIGRCm39mm39
GRCm39 EnsemblX49,984,057 - 50,031,587 (-)Ensembl
GRCm38X50,892,643 - 50,943,619 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX50,895,180 - 50,942,710 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X48,245,822 - 48,295,887 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X47,137,272 - 47,140,249 (-)NCBImm8
CeleraX38,310,572 - 38,360,399 (-)NCBICelera
Cytogenetic MapXA5NCBI
Frmd7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X130,375,925 - 130,423,836 (-)NCBI
Rnor_6.0 EnsemblX138,098,185 - 138,148,967 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X138,095,707 - 138,149,702 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X138,156,729 - 138,201,894 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X137,630,930 - 137,651,419 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX129,292,933 - 129,342,796 (-)NCBICelera
Cytogenetic MapXq36NCBI
Frmd7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554732,774,910 - 2,817,770 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554732,798,736 - 2,817,770 (+)NCBIChiLan1.0ChiLan1.0
FRMD7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X131,516,484 - 131,567,394 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX131,516,484 - 131,567,394 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X121,208,961 - 121,259,708 (-)NCBIMhudiblu_PPA_v0panPan3
FRMD7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X103,027,980 - 103,055,139 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX103,028,814 - 103,079,148 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX89,200,949 - 89,228,132 (-)NCBI
ROS_Cfam_1.0X104,888,001 - 104,915,186 (-)NCBI
UMICH_Zoey_3.1X102,298,932 - 102,326,114 (-)NCBI
UNSW_CanFamBas_1.0X104,175,272 - 104,202,291 (-)NCBI
UU_Cfam_GSD_1.0X103,946,577 - 103,973,591 (-)NCBI
Frmd7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X101,200,657 - 101,255,867 (-)NCBI
SpeTri2.0NW_0049366912,664,968 - 2,756,300 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FRMD7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX108,241,135 - 108,294,123 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X108,241,116 - 108,294,188 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X124,264,174 - 124,333,949 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FRMD7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X107,231,960 - 107,285,880 (-)NCBI
ChlSab1.1 EnsemblX107,235,289 - 107,285,416 (-)Ensembl
Frmd7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479711,769,739 - 11,802,384 (-)NCBI

Position Markers
DXS993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,147,712 - 41,147,864UniSTSGRCh37
GRCh37X41,147,683 - 41,147,988UniSTSGRCh37
Build 36X41,032,627 - 41,032,932RGDNCBI36
CeleraX45,288,455 - 45,288,748RGD
CeleraX45,288,484 - 45,288,636UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic MapXp11.4-p11.2UniSTS
HuRefX38,877,332 - 38,877,484UniSTS
HuRefX38,877,303 - 38,877,612UniSTS
Marshfield Genetic MapX42.21RGD
Genethon Genetic MapX66.1UniSTS
TNG Radiation Hybrid MapX11322.0UniSTS
Stanford-G3 RH MapX1465.0UniSTS
GeneMap99-GB4 RH MapX126.88UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX140.8UniSTS
GeneMap99-G3 RH MapX661.0UniSTS
SHGC-83868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,249,050 - 131,249,321UniSTSGRCh37
Build 36X131,076,731 - 131,077,002RGDNCBI36
CeleraX131,635,459 - 131,635,730RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,653,493 - 120,653,764UniSTS
DXS6808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,237,492 - 131,237,745UniSTSGRCh37
Build 36X131,065,173 - 131,065,426RGDNCBI36
CeleraX131,623,901 - 131,624,154RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,641,941 - 120,642,190UniSTS
AL023935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,259,109 - 131,259,243UniSTSGRCh37
Build 36X131,086,790 - 131,086,924RGDNCBI36
CeleraX131,645,518 - 131,645,652RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,663,216 - 120,663,350UniSTS
AL031253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,215,537 - 131,215,704UniSTSGRCh37
Build 36X131,043,218 - 131,043,385RGDNCBI36
CeleraX131,601,946 - 131,602,113RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,619,981 - 120,620,148UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1173
Count of miRNA genes:596
Interacting mature miRNAs:671
Transcripts:ENST00000298542, ENST00000370879, ENST00000464296
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 adipose tissue appendage entire extraembryonic component
High
Medium 2 1 5 17 2 1
Low 1 597 21 19 11 19 610 14 53 152 204 11 49 515 1
Below cutoff 378 1288 549 351 391 231 2613 800 1854 66 828 363 122 554 1613 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000298542   ⟹   ENSP00000298542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,076,995 - 132,128,020 (-)Ensembl
RefSeq Acc Id: ENST00000370879   ⟹   ENSP00000359916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,076,993 - 132,094,263 (-)Ensembl
RefSeq Acc Id: ENST00000464296   ⟹   ENSP00000417996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,077,872 - 132,127,844 (-)Ensembl
RefSeq Acc Id: NM_001306193   ⟹   NP_001293122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,076,990 - 132,128,020 (-)NCBI
CHM1_1X131,122,591 - 131,173,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_194277   ⟹   NP_919253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,076,990 - 132,128,020 (-)NCBI
GRCh37X131,211,021 - 131,262,050 (-)ENTREZGENE
GRCh37X131,211,021 - 131,262,050 (-)NCBI
Build 36X131,038,704 - 131,089,731 (-)NCBI Archive
HuRefX120,615,465 - 120,666,154 (-)ENTREZGENE
CHM1_1X131,122,598 - 131,173,623 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029947   ⟹   XP_016885436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,074,926 - 132,101,881 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029948   ⟹   XP_016885437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,074,926 - 132,127,890 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029949   ⟹   XP_016885438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,074,926 - 132,094,566 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_919253   ⟸   NM_194277
- Peptide Label: isoform 1
- UniProtKB: Q6ZUT3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001293122   ⟸   NM_001306193
- Peptide Label: isoform 2
- UniProtKB: Q6ZUT3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885437   ⟸   XM_017029948
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885436   ⟸   XM_017029947
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885438   ⟸   XM_017029949
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000359916   ⟸   ENST00000370879
RefSeq Acc Id: ENSP00000417996   ⟸   ENST00000464296
RefSeq Acc Id: ENSP00000298542   ⟸   ENST00000298542
Protein Domains
FERM


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_194277.2(FRMD7):c.1050+5G>A single nucleotide variant Infantile nystagmus, X-linked [RCV000022870] ChrX:132080001 [GRCh38]
ChrX:131214029 [GRCh37]
ChrX:Xq26.2
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_194277.3(FRMD7):c.205+2T>G single nucleotide variant Infantile nystagmus, X-linked [RCV000011531] ChrX:132099466 [GRCh38]
ChrX:131233494 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del) microsatellite Infantile nystagmus, X-linked [RCV000011534] ChrX:132127802..132127804 [GRCh38]
ChrX:131261830..131261832 [GRCh37]
ChrX:Xq26.2
pathogenic
FRMD7, 2-BP DEL, 1274TG deletion Infantile nystagmus, X-linked [RCV000011537] ChrX:Xq26.2 pathogenic
NM_194277.2(FRMD7):c.685C>T (p.Arg229Cys) single nucleotide variant not provided [RCV000522225] ChrX:132084546 [GRCh38]
ChrX:131218574 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.691T>G (p.Leu231Val) single nucleotide variant Infantile nystagmus, X-linked [RCV000022868] ChrX:132084540 [GRCh38]
ChrX:131218568 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr) single nucleotide variant Infantile nystagmus, X-linked [RCV000022869] ChrX:132082456 [GRCh38]
ChrX:131216484 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter) single nucleotide variant Infantile nystagmus, X-linked [RCV000011529] ChrX:132085625 [GRCh38]
ChrX:131219653 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter) single nucleotide variant Infantile nystagmus, X-linked [RCV000011530]|not provided [RCV001043923] ChrX:132080053 [GRCh38]
ChrX:131214081 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.252G>A (p.Val84=) single nucleotide variant Infantile nystagmus, X-linked [RCV000011532] ChrX:132097298 [GRCh38]
ChrX:131231326 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg) single nucleotide variant Infantile nystagmus, X-linked [RCV000011533]|not provided [RCV001268897] ChrX:132100704 [GRCh38]
ChrX:131234732 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg) single nucleotide variant Infantile nystagmus, X-linked [RCV000011535] ChrX:132085992 [GRCh38]
ChrX:131220020 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly) single nucleotide variant Infantile nystagmus, X-linked [RCV000011536] ChrX:132084546 [GRCh38]
ChrX:131218574 [GRCh37]
ChrX:Xq26.2
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: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)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:10679-156013167)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-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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
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 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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
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-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-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 Xq26.2(chrX:131679218-132563491)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054249]|See cases [RCV000054249] ChrX:131679218..132563491 [GRCh38]
ChrX:130813232..131697519 [GRCh37]
ChrX:130640913..131525200 [NCBI36]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.1429G>A (p.Asp477Asn) single nucleotide variant Malignant melanoma [RCV000063944] ChrX:132078588 [GRCh38]
ChrX:131212616 [GRCh37]
ChrX:131040297 [NCBI36]
ChrX:Xq26.2
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
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-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: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-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
NM_194277.2(FRMD7):c.556A>G (p.Met186Val) single nucleotide variant Infantile nystagmus, X-linked [RCV000172871] ChrX:132085670 [GRCh38]
ChrX:131219698 [GRCh37]
ChrX:Xq26.2
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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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: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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
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 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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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-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
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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
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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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-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 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
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 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_194277.2(FRMD7):c.1101T>C (p.Asn367=) single nucleotide variant Infantile nystagmus, X-linked [RCV000382849]|not specified [RCV000242194] ChrX:132078916 [GRCh38]
ChrX:131212944 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.1403G>A (p.Arg468His) single nucleotide variant Infantile nystagmus, X-linked [RCV000332984]|not specified [RCV000247406] ChrX:132078614 [GRCh38]
ChrX:131212642 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.69C>T (p.Ser23=) single nucleotide variant Infantile nystagmus, X-linked [RCV000396549]|not specified [RCV000242596] ChrX:132100705 [GRCh38]
ChrX:131234733 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.1533T>C (p.Ile511=) single nucleotide variant Infantile nystagmus, X-linked [RCV000367634]|not specified [RCV000252441] ChrX:132078484 [GRCh38]
ChrX:131212512 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.842C>T (p.Ser281Leu) single nucleotide variant Infantile nystagmus, X-linked [RCV000990946]|not specified [RCV000247785] ChrX:132082426 [GRCh38]
ChrX:131216454 [GRCh37]
ChrX:Xq26.2
benign|likely benign
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: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
NM_194277.2(FRMD7):c.*600C>G single nucleotide variant Infantile nystagmus, X-linked [RCV000301650] ChrX:132077272 [GRCh38]
ChrX:131211300 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.-14C>T single nucleotide variant Infantile nystagmus, X-linked [RCV000285943] ChrX:132127858 [GRCh38]
ChrX:131261886 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg) single nucleotide variant Infantile nystagmus, X-linked [RCV000288100] ChrX:132082364 [GRCh38]
ChrX:131216392 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.1473G>T (p.Met491Ile) single nucleotide variant Infantile nystagmus, X-linked [RCV000277973]|not provided [RCV000950883] ChrX:132078544 [GRCh38]
ChrX:131212572 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.*196G>C single nucleotide variant Infantile nystagmus, X-linked [RCV000262683] ChrX:132077676 [GRCh38]
ChrX:131211704 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.*285C>T single nucleotide variant Infantile nystagmus, X-linked [RCV000357440] ChrX:132077587 [GRCh38]
ChrX:131211615 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001306193.1(FRMD7):c.*748_*751GTTT[1] microsatellite Infantile Nystagmus [RCV000346056] ChrX:132077117..132077120 [GRCh38]
ChrX:131211145..131211148 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.-102G>A single nucleotide variant Infantile nystagmus, X-linked [RCV000400979] ChrX:132127946 [GRCh38]
ChrX:131261974 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.383-11C>T single nucleotide variant Infantile nystagmus, X-linked [RCV000284587] ChrX:132086045 [GRCh38]
ChrX:131220073 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.*665A>T single nucleotide variant Infantile nystagmus, X-linked [RCV000402172] ChrX:132077207 [GRCh38]
ChrX:131211235 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro) single nucleotide variant Infantile nystagmus, X-linked [RCV000331904] ChrX:132078374 [GRCh38]
ChrX:131212402 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr) single nucleotide variant Infantile nystagmus, X-linked [RCV000383583] ChrX:132085959 [GRCh38]
ChrX:131219987 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.*816G>A single nucleotide variant Infantile nystagmus, X-linked [RCV000291167] ChrX:132077056 [GRCh38]
ChrX:131211084 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.-100G>T single nucleotide variant Infantile nystagmus, X-linked [RCV000336283] ChrX:132127944 [GRCh38]
ChrX:131261972 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.*434C>T single nucleotide variant Infantile nystagmus, X-linked [RCV000391082] ChrX:132077438 [GRCh38]
ChrX:131211466 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_194277.2(FRMD7):c.284+10T>G single nucleotide variant Infantile nystagmus, X-linked [RCV000339719]|not provided [RCV000904213] ChrX:132097256 [GRCh38]
ChrX:131231284 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_194277.2(FRMD7):c.905+1G>A single nucleotide variant not provided [RCV000388222] ChrX:132082362 [GRCh38]
ChrX:131216390 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.*293G>C single nucleotide variant Infantile nystagmus, X-linked [RCV000297918] ChrX:132077579 [GRCh38]
ChrX:131211607 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.*573G>T single nucleotide variant Infantile nystagmus, X-linked [RCV000360953] ChrX:132077299 [GRCh38]
ChrX:131211327 [GRCh37]
ChrX:Xq26.2
uncertain significance
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131014269-131416176)x3 copy number gain See cases [RCV000446058] ChrX:131014269..131416176 [GRCh37]
ChrX:Xq26.2
uncertain significance
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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
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 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_194277.2(FRMD7):c.206-4T>G single nucleotide variant not provided [RCV000480822] ChrX:132097348 [GRCh38]
ChrX:131231376 [GRCh37]
ChrX:Xq26.2
uncertain significance
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:130818298-131542075)x3 copy number gain not provided [RCV000753777] ChrX:130818298..131542075 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_194277.2(FRMD7):c.388C>T (p.Leu130Phe) single nucleotide variant not provided [RCV000895867] ChrX:132086029 [GRCh38]
ChrX:131220057 [GRCh37]
ChrX:Xq26.2
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_194277.3(FRMD7):c.1154T>C (p.Leu385Ser) single nucleotide variant not provided [RCV001053282] ChrX:132078863 [GRCh38]
ChrX:131212891 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_194277.3(FRMD7):c.886G>C (p.Gly296Arg) single nucleotide variant not provided [RCV001091720] ChrX:132082382 [GRCh38]
ChrX:131216410 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.2(FRMD7):c.2138del (p.Phe712_Leu713insTer) deletion not provided [RCV000971840] ChrX:132077879 [GRCh38]
ChrX:131211907 [GRCh37]
ChrX:Xq26.2
benign
NM_194277.2(FRMD7):c.1588C>T (p.Pro530Ser) single nucleotide variant Infantile nystagmus, X-linked [RCV001166847]|not provided [RCV000884377] ChrX:132078429 [GRCh38]
ChrX:131212457 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_194277.3(FRMD7):c.1426A>G (p.Thr476Ala) single nucleotide variant not provided [RCV001063576] ChrX:132078591 [GRCh38]
ChrX:131212619 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1130A>T (p.Glu377Val) single nucleotide variant not provided [RCV001041234] ChrX:132078887 [GRCh38]
ChrX:131212915 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.998A>T (p.His333Leu) single nucleotide variant not provided [RCV001046487] ChrX:132080058 [GRCh38]
ChrX:131214086 [GRCh37]
ChrX:Xq26.2
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_194277.3(FRMD7):c.1730C>T (p.Ala577Val) single nucleotide variant not provided [RCV001062459] ChrX:132078287 [GRCh38]
ChrX:131212315 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.163G>C (p.Val55Leu) single nucleotide variant not provided [RCV000996018] ChrX:132099510 [GRCh38]
ChrX:131233538 [GRCh37]
ChrX:Xq26.2
likely pathogenic|uncertain significance
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Infantile nystagmus, X-linked [RCV000767808] ChrX:130280298..132670366 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
NM_194277.2(FRMD7):c.1675G>A (p.Gly559Ser) single nucleotide variant not provided [RCV000901772] ChrX:132078342 [GRCh38]
ChrX:131212370 [GRCh37]
ChrX:Xq26.2
benign
NM_194277.2(FRMD7):c.285-3C>T single nucleotide variant Infantile nystagmus, X-linked [RCV001169320]|not provided [RCV000906445] ChrX:132094142 [GRCh38]
ChrX:131228170 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
GRCh37/hg19 Xq26.2(chrX:130807137-131596401)x2 copy number gain not provided [RCV000847158] ChrX:130807137..131596401 [GRCh37]
ChrX:Xq26.2
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
NM_194277.3(FRMD7):c.384A>G (p.Ser128=) single nucleotide variant Infantile nystagmus, X-linked [RCV001168560] ChrX:132086033 [GRCh38]
ChrX:131220061 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) single nucleotide variant Infantile nystagmus, X-linked [RCV001166328] ChrX:132078218 [GRCh38]
ChrX:131212246 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.*685T>C single nucleotide variant Infantile nystagmus, X-linked [RCV001169244] ChrX:132077187 [GRCh38]
ChrX:131211215 [GRCh37]
ChrX:Xq26.2
likely benign
NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp) single nucleotide variant Infantile nystagmus, X-linked [RCV001169321] ChrX:132100617 [GRCh38]
ChrX:131234645 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.*300T>C single nucleotide variant Infantile nystagmus, X-linked [RCV001166327] ChrX:132077572 [GRCh38]
ChrX:131211600 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1200G>A (p.Ala400=) single nucleotide variant Infantile nystagmus, X-linked [RCV001166850] ChrX:132078817 [GRCh38]
ChrX:131212845 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg) single nucleotide variant Infantile nystagmus, X-linked [RCV001168558] ChrX:132080064 [GRCh38]
ChrX:131214092 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.718A>G (p.Ile240Val) single nucleotide variant Infantile nystagmus, X-linked [RCV001168559] ChrX:132084513 [GRCh38]
ChrX:131218541 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.*730A>G single nucleotide variant Infantile nystagmus, X-linked [RCV001169243] ChrX:132077142 [GRCh38]
ChrX:131211170 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq26.2(chrX:130814171-131217628)x3 copy number gain not provided [RCV000845907] ChrX:130814171..131217628 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_194277.3(FRMD7):c.1267T>G (p.Phe423Val) single nucleotide variant not provided [RCV001247501] ChrX:132078750 [GRCh38]
ChrX:131212778 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1967A>G (p.Glu656Gly) single nucleotide variant not provided [RCV001225921] ChrX:132078050 [GRCh38]
ChrX:131212078 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_194277.3(FRMD7):c.1624A>G (p.Ser542Gly) single nucleotide variant not provided [RCV001247312] ChrX:132078393 [GRCh38]
ChrX:131212421 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.163-2A>T single nucleotide variant not provided [RCV001229529] ChrX:132099512 [GRCh38]
ChrX:131233540 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr) single nucleotide variant Infantile nystagmus, X-linked [RCV001169319] ChrX:132094116 [GRCh38]
ChrX:131228144 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_194277.2(FRMD7):c.1558C>G (p.His520Asp) single nucleotide variant Infantile nystagmus, X-linked [RCV001166848]|not provided [RCV000887368] ChrX:132078459 [GRCh38]
ChrX:131212487 [GRCh37]
ChrX:Xq26.2
benign
NM_194277.2(FRMD7):c.1082G>T (p.Gly361Val) single nucleotide variant not provided [RCV000887646] ChrX:132078935 [GRCh38]
ChrX:131212963 [GRCh37]
ChrX:Xq26.2
benign
NM_194277.2(FRMD7):c.1474C>T (p.Pro492Ser) single nucleotide variant not provided [RCV000933364] ChrX:132078543 [GRCh38]
ChrX:131212571 [GRCh37]
ChrX:Xq26.2
benign
NM_194277.3(FRMD7):c.1829T>G (p.Leu610Ter) single nucleotide variant not provided [RCV001244291] ChrX:132078188 [GRCh38]
ChrX:131212216 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) single nucleotide variant Infantile nystagmus, X-linked [RCV001166849] ChrX:132078536 [GRCh38]
ChrX:131212564 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.134T>G (p.Leu45Ter) single nucleotide variant not provided [RCV001092157] ChrX:132100640 [GRCh38]
ChrX:131234668 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.3(FRMD7):c.376T>A (p.Leu126Ile) single nucleotide variant not provided [RCV001238269] ChrX:132094048 [GRCh38]
ChrX:131228076 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1316A>G (p.Glu439Gly) single nucleotide variant not provided [RCV001227892] ChrX:132078701 [GRCh38]
ChrX:131212729 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.1973T>G (p.Leu658Arg) single nucleotide variant not provided [RCV000934333] ChrX:132078044 [GRCh38]
ChrX:131212072 [GRCh37]
ChrX:Xq26.2
likely benign
NM_194277.3(FRMD7):c.1872G>A (p.Thr624=) single nucleotide variant not provided [RCV001060933] ChrX:132078145 [GRCh38]
ChrX:131212173 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1199C>T (p.Ala400Val) single nucleotide variant not provided [RCV001229280] ChrX:132078818 [GRCh38]
ChrX:131212846 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1402C>T (p.Arg468Cys) single nucleotide variant not provided [RCV001207656] ChrX:132078615 [GRCh38]
ChrX:131212643 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.*827T>A single nucleotide variant Infantile nystagmus, X-linked [RCV001169242] ChrX:132077045 [GRCh38]
ChrX:131211073 [GRCh37]
ChrX:Xq26.2
likely benign
NM_194277.3(FRMD7):c.284+1G>A single nucleotide variant Retinal dystrophy [RCV001074068] ChrX:132097265 [GRCh38]
ChrX:131231293 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.3(FRMD7):c.383-14T>C single nucleotide variant Infantile nystagmus, X-linked [RCV001168561] ChrX:132086048 [GRCh38]
ChrX:131220076 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_194277.3(FRMD7):c.383-3C>A single nucleotide variant not provided [RCV001039695] ChrX:132086037 [GRCh38]
ChrX:131220065 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.58-6G>A single nucleotide variant Infantile nystagmus, X-linked [RCV001169322] ChrX:132100722 [GRCh38]
ChrX:131234750 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1603C>G (p.Pro535Ala) single nucleotide variant not provided [RCV001063927] ChrX:132078414 [GRCh38]
ChrX:131212442 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu) single nucleotide variant Infantile nystagmus, X-linked [RCV001166329] ChrX:132078371 [GRCh38]
ChrX:131212399 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.308A>G (p.Lys103Arg) single nucleotide variant not provided [RCV001229606] ChrX:132094116 [GRCh38]
ChrX:131228144 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1050+1G>C single nucleotide variant Infantile nystagmus, X-linked [RCV001253283] ChrX:132080005 [GRCh38]
ChrX:131214033 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter) single nucleotide variant not provided [RCV001268226] ChrX:132082487 [GRCh38]
ChrX:131216515 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xq26.2(chrX:130483014-131224642)x3 copy number gain not provided [RCV001260045] ChrX:130483014..131224642 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.3G>A (p.Met1Ile) single nucleotide variant Inborn genetic diseases [RCV001266203] ChrX:132127842 [GRCh38]
ChrX:131261870 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_194277.3(FRMD7):c.580G>A (p.Ala194Thr) single nucleotide variant not provided [RCV001325280] ChrX:132085646 [GRCh38]
ChrX:131219674 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_194277.3(FRMD7):c.1897C>T (p.Pro633Ser) single nucleotide variant not provided [RCV001337216] ChrX:132078120 [GRCh38]
ChrX:131212148 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1204C>G (p.Pro402Ala) single nucleotide variant not provided [RCV001324546] ChrX:132078813 [GRCh38]
ChrX:131212841 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.2110A>G (p.Thr704Ala) single nucleotide variant not provided [RCV001319433] ChrX:132077907 [GRCh38]
ChrX:131211935 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.967T>C (p.Phe323Leu) single nucleotide variant not provided [RCV001315950] ChrX:132080205 [GRCh38]
ChrX:131214233 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.862C>A (p.Pro288Thr) single nucleotide variant not provided [RCV001304081] ChrX:132082406 [GRCh38]
ChrX:131216434 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1242C>G (p.Phe414Leu) single nucleotide variant not provided [RCV001345665] ChrX:132078775 [GRCh38]
ChrX:131212803 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.2093C>T (p.Pro698Leu) single nucleotide variant not provided [RCV001299950] ChrX:132077924 [GRCh38]
ChrX:131211952 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1613T>G (p.Ile538Ser) single nucleotide variant not provided [RCV001346437] ChrX:132078404 [GRCh38]
ChrX:131212432 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.741+6T>C single nucleotide variant not provided [RCV001321625] ChrX:132084484 [GRCh38]
ChrX:131218512 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.373A>T (p.Ile125Phe) single nucleotide variant not provided [RCV001317903] ChrX:132094051 [GRCh38]
ChrX:131228079 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1969A>T (p.Ile657Phe) single nucleotide variant not provided [RCV001322399] ChrX:132078048 [GRCh38]
ChrX:131212076 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.2145A>T (p.Ter715Tyr) single nucleotide variant not provided [RCV001306326] ChrX:132077872 [GRCh38]
ChrX:131211900 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.2125T>C (p.Cys709Arg) single nucleotide variant not provided [RCV001298945] ChrX:132077892 [GRCh38]
ChrX:131211920 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_194277.3(FRMD7):c.1853A>T (p.His618Leu) single nucleotide variant not provided [RCV001351861] ChrX:132078164 [GRCh38]
ChrX:131212192 [GRCh37]
ChrX:Xq26.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8079 AgrOrtholog
COSMIC FRMD7 COSMIC
Ensembl Genes ENSG00000165694 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000298542 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359916 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000417996 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298542 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370879 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000464296 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165694 GTEx
HGNC ID HGNC:8079 ENTREZGENE
Human Proteome Map FRMD7 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot
  FARP1/FARP2/FRMD7_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM-adjacent UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_CS UniProtKB/Swiss-Prot
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot
  FERM_PH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot
KEGG Report hsa:90167 UniProtKB/Swiss-Prot
NCBI Gene 90167 ENTREZGENE
OMIM 300628 OMIM
  310700 OMIM
Pfam FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot
  FERM_N UniProtKB/Swiss-Prot
  PF08736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388934 PharmGKB
PRINTS BAND41 UniProtKB/Swiss-Prot
PROSITE FERM_1 UniProtKB/Swiss-Prot
  FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM01195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot
UniProt FRMD7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X6R7S7_HUMAN UniProtKB/TrEMBL
UniProt Secondary C0LLJ3 UniProtKB/Swiss-Prot
  Q5JX99 UniProtKB/Swiss-Prot