RIMS1 (regulating synaptic membrane exocytosis 1) - Rat Genome Database

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Gene: RIMS1 (regulating synaptic membrane exocytosis 1) Homo sapiens
Analyze
Symbol: RIMS1
Name: regulating synaptic membrane exocytosis 1
RGD ID: 731818
HGNC Page HGNC:17282
Description: Enables RNA binding activity. Involved in acrosomal vesicle exocytosis; positive regulation of dendrite extension; and protein-containing complex assembly. Predicted to be located in several cellular components, including inhibitory synapse; postsynaptic density; and vesicle. Predicted to be active in several cellular components, including GABA-ergic synapse; presynaptic active zone cytoplasmic component; and presynaptic membrane. Predicted to be extrinsic component of presynaptic active zone membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cone rod dystrophy 7; CORD7; KIAA0340; MGC167823; MGC176677; rab-3-interacting molecule 1; rab-3-interacting protein 2; rab3-interacting molecule 1; RAB3-interacting protein 2; RAB3IP2; regulating synaptic membrane exocytosis protein 1; RIM; RIM 1; RIM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38671,886,550 - 72,403,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl671,886,550 - 72,403,150 (+)EnsemblGRCh38hg38GRCh38
GRCh37672,596,253 - 73,112,847 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36672,653,371 - 73,169,229 (+)NCBINCBI36Build 36hg18NCBI36
Build 34672,653,447 - 73,167,137NCBI
Celera672,990,111 - 73,506,277 (+)NCBICelera
Cytogenetic Map6q13NCBI
HuRef669,794,715 - 70,311,090 (+)NCBIHuRef
CHM1_1672,762,989 - 73,279,548 (+)NCBICHM1_1
T2T-CHM13v2.0673,067,717 - 73,580,721 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. Direct interaction of the rab3 effector rim with ca2+ channels, snap-25, and synaptotagmin. Coppola T, etal., J Biol Chem 2001 Aug 31;276(35):32756-62.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9205841   PMID:9634506   PMID:11343654   PMID:11438519   PMID:11438520   PMID:11438521   PMID:11438522   PMID:11797009   PMID:12163476   PMID:12391317   PMID:12477932   PMID:12578829  
PMID:12620390   PMID:12659814   PMID:12871946   PMID:14702039   PMID:14734538   PMID:15217342   PMID:15302935   PMID:15746564   PMID:16344560   PMID:16722236   PMID:17237123   PMID:17353931  
PMID:17474147   PMID:19156168   PMID:19240061   PMID:19490893   PMID:20125193   PMID:20379614   PMID:20801516   PMID:21331761   PMID:21402706   PMID:21873635   PMID:22248876   PMID:22542183  
PMID:22658674   PMID:23999003   PMID:24009623   PMID:24236485   PMID:25056061   PMID:25284784   PMID:26344197   PMID:26496610   PMID:27176872   PMID:27824329   PMID:28011674   PMID:28377503  
PMID:28611215   PMID:30021884   PMID:33864728   PMID:33961781   PMID:34349018   PMID:35063084   PMID:35575683   PMID:37207277   PMID:37689310   PMID:38334954  


Genomics

Comparative Map Data
RIMS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38671,886,550 - 72,403,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl671,886,550 - 72,403,150 (+)EnsemblGRCh38hg38GRCh38
GRCh37672,596,253 - 73,112,847 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36672,653,371 - 73,169,229 (+)NCBINCBI36Build 36hg18NCBI36
Build 34672,653,447 - 73,167,137NCBI
Celera672,990,111 - 73,506,277 (+)NCBICelera
Cytogenetic Map6q13NCBI
HuRef669,794,715 - 70,311,090 (+)NCBIHuRef
CHM1_1672,762,989 - 73,279,548 (+)NCBICHM1_1
T2T-CHM13v2.0673,067,717 - 73,580,721 (+)NCBIT2T-CHM13v2.0
Rims1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39122,356,196 - 22,845,239 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl122,356,475 - 22,845,203 (-)EnsemblGRCm39 Ensembl
GRCm38122,285,972 - 22,806,158 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl122,286,251 - 22,805,994 (-)EnsemblGRCm38mm10GRCm38
MGSCv37122,278,503 - 22,422,924 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv37122,475,024 - 22,812,563 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36122,271,058 - 22,414,692 (-)NCBIMGSCv36mm8
Celera122,160,697 - 22,651,999 (-)NCBICelera
Cytogenetic Map1A5NCBI
cM Map18.54NCBI
Rims1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8932,193,352 - 32,692,998 (-)NCBIGRCr8
mRatBN7.2924,696,959 - 25,196,404 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl924,698,854 - 25,196,631 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx933,205,759 - 33,705,668 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0938,311,750 - 38,811,445 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0936,628,202 - 37,133,961 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0928,440,408 - 28,973,246 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl928,442,229 - 28,973,246 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0927,284,845 - 27,813,498 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4921,089,088 - 21,594,679 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1921,090,501 - 21,596,093 (-)NCBI
Celera922,268,968 - 22,762,652 (-)NCBICelera
Cytogenetic Map9q13NCBI
Rims1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554886,936,952 - 7,197,022 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554886,999,128 - 7,196,583 (+)NCBIChiLan1.0ChiLan1.0
RIMS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2591,867,737 - 92,384,257 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1689,793,234 - 90,309,366 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0669,714,807 - 70,231,260 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1673,304,152 - 73,523,422 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl673,008,176 - 73,523,422 (+)Ensemblpanpan1.1panPan2
RIMS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11234,473,974 - 34,661,893 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1234,474,033 - 34,659,410 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1234,042,997 - 34,520,866 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01234,724,669 - 35,202,130 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1234,724,007 - 35,202,201 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11234,260,108 - 34,737,956 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01234,298,396 - 34,775,746 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01234,408,939 - 34,886,369 (+)NCBIUU_Cfam_GSD_1.0
Rims1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494669,448,844 - 69,892,776 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366183,606,524 - 4,047,711 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366183,678,400 - 4,047,994 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIMS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl151,785,495 - 52,244,934 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1151,785,140 - 52,246,456 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2158,399,458 - 58,584,713 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RIMS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1172,690,430 - 3,176,794 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl172,690,418 - 3,176,738 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660588,621,932 - 9,124,698 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in RIMS1
1119 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) single nucleotide variant Cone-rod dystrophy 7 [RCV000004385]|Retinal dystrophy [RCV001074043]|not provided [RCV001386853] Chr6:72251007 [GRCh38]
Chr6:72960710 [GRCh37]
Chr6:6q13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.1249G>A (p.Ala417Thr) single nucleotide variant not provided [RCV000520982] Chr6:72182720 [GRCh38]
Chr6:72892423 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.5(RIMS1):c.246-42726C>A single nucleotide variant Lung cancer [RCV000097162] Chr6:72054223 [GRCh38]
Chr6:72763926 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.5(RIMS1):c.2770+2064G>A single nucleotide variant Lung cancer [RCV000097163] Chr6:72254896 [GRCh38]
Chr6:72964599 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-16551C>T single nucleotide variant Cone-rod dystrophy 7 [RCV001196852] Chr6:72217222 [GRCh38]
Chr6:72926925 [GRCh37]
Chr6:6q13
uncertain significance
GRCh38/hg38 6q13(chr6:71961903-72268687)x1 copy number loss See cases [RCV000052583] Chr6:71961903..72268687 [GRCh38]
Chr6:72671606..72978390 [GRCh37]
Chr6:72728327..73035111 [NCBI36]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) single nucleotide variant Cone-rod dystrophy 7 [RCV000347586]|not provided [RCV000828501]|not specified [RCV000081688] Chr6:72182554 [GRCh38]
Chr6:72892257 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) single nucleotide variant Cone-rod dystrophy 7 [RCV000399456]|not provided [RCV000842175]|not specified [RCV000081689] Chr6:72182680 [GRCh38]
Chr6:72892383 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.4983G>A (p.Pro1661=) single nucleotide variant not provided [RCV000901125]|not specified [RCV000081690] Chr6:72400618 [GRCh38]
Chr6:73110320 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.2801A>G (p.Lys934Arg) single nucleotide variant not provided [RCV001367905] Chr6:72258155 [GRCh38]
Chr6:72967858 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3235A>G (p.Arg1079Gly) single nucleotide variant not provided [RCV002001800] Chr6:72265430 [GRCh38]
Chr6:72975133 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) deletion Cone-rod dystrophy 7 [RCV000778801]|Leber congenital amaurosis [RCV000144472]|not provided [RCV001495372] Chr6:72264994 [GRCh38]
Chr6:72974697 [GRCh37]
Chr6:6q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.2699-8T>C single nucleotide variant Cone-rod dystrophy 7 [RCV000327241]|not provided [RCV000175081]|not specified [RCV001699142] Chr6:72252753 [GRCh38]
Chr6:72962456 [GRCh37]
Chr6:6q13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 6q13(chr6:71845502-72098192)x1 copy number loss See cases [RCV000135861] Chr6:71845502..72098192 [GRCh38]
Chr6:72555205..72807895 [GRCh37]
Chr6:72611926..72864616 [NCBI36]
Chr6:6q13
pathogenic
GRCh38/hg38 6q13(chr6:70809191-71941709)x3 copy number gain See cases [RCV000135579] Chr6:70809191..71941709 [GRCh38]
Chr6:71518894..72651412 [GRCh37]
Chr6:71575615..72708133 [NCBI36]
Chr6:6q13
uncertain significance
GRCh38/hg38 6q13(chr6:70794142-71972780)x3 copy number gain See cases [RCV000142320] Chr6:70794142..71972780 [GRCh38]
Chr6:71503845..72682483 [GRCh37]
Chr6:71560566..72739204 [NCBI36]
Chr6:6q13
uncertain significance
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2
pathogenic
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) single nucleotide variant not provided [RCV000153843] Chr6:72235635 [GRCh38]
Chr6:72945338 [GRCh37]
Chr6:6q13
conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) single nucleotide variant RIMS1-related disorder [RCV003955083]|not provided [RCV000179486] Chr6:72183004 [GRCh38]
Chr6:72892707 [GRCh37]
Chr6:6q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.4606A>G (p.Thr1536Ala) single nucleotide variant not provided [RCV000177565] Chr6:72392798 [GRCh38]
Chr6:73102500 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4506-5G>A single nucleotide variant RIMS1-related disorder [RCV003967423]|not provided [RCV000177566] Chr6:72392693 [GRCh38]
Chr6:73102395 [GRCh37]
Chr6:6q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.438C>T (p.Arg146=) single nucleotide variant Cone-rod dystrophy 7 [RCV000260375]|Retinal dystrophy [RCV004816610]|not provided [RCV000958969] Chr6:72097141 [GRCh38]
Chr6:72806844 [GRCh37]
Chr6:6q13
benign|likely benign|uncertain significance
NM_014989.7(RIMS1):c.*1076A>G single nucleotide variant Cone-rod dystrophy 7 [RCV000259826] Chr6:72401790 [GRCh38]
Chr6:73111492 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1477G>C (p.Glu493Gln) single nucleotide variant Long QT syndrome [RCV000190210] Chr6:72182948 [GRCh38]
Chr6:72892651 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV000292387]|Retinal dystrophy [RCV004816506]|not provided [RCV000303767] Chr6:72258248 [GRCh38]
Chr6:72967951 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3738-20G>A single nucleotide variant not provided [RCV002518643]|not specified [RCV000246137] Chr6:72291914 [GRCh38]
Chr6:73001617 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.813-14T>G single nucleotide variant Cone-rod dystrophy 7 [RCV000286580]|not provided [RCV001513745] Chr6:72182270 [GRCh38]
Chr6:72891973 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*138G>T single nucleotide variant Cone-rod dystrophy 7 [RCV000282973] Chr6:72400852 [GRCh38]
Chr6:73110554 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.2895G>A (p.Pro965=) single nucleotide variant Cone-rod dystrophy 7 [RCV000349573]|not provided [RCV000973875]|not specified [RCV000249553] Chr6:72258249 [GRCh38]
Chr6:72967952 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV000300193]|not provided [RCV001513970]|not specified [RCV000254337] Chr6:72274420 [GRCh38]
Chr6:72984123 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=) single nucleotide variant Cone-rod dystrophy 7 [RCV000320550]|Retinal dystrophy [RCV004816457]|not provided [RCV001510293]|not specified [RCV000244802] Chr6:72235647 [GRCh38]
Chr6:72945350 [GRCh37]
Chr6:6q13
benign|likely benign|uncertain significance
NM_014989.7(RIMS1):c.666A>G (p.Leu222=) single nucleotide variant Cone-rod dystrophy 7 [RCV000282879]|not provided [RCV000836693]|not specified [RCV000244988] Chr6:72179769 [GRCh38]
Chr6:72889472 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV000378741]|not provided [RCV001515174]|not specified [RCV000249745] Chr6:72179846 [GRCh38]
Chr6:72889549 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) single nucleotide variant Cone-rod dystrophy 7 [RCV000268560]|Retinal dystrophy [RCV004816612]|not provided [RCV000520457] Chr6:72333628 [GRCh38]
Chr6:73043331 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=) single nucleotide variant Cone-rod dystrophy 7 [RCV000329357]|not provided [RCV000836760]|not specified [RCV000250069] Chr6:72392740 [GRCh38]
Chr6:73102442 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.-13G>T single nucleotide variant Cone-rod dystrophy 7 [RCV000275827] Chr6:71887011 [GRCh38]
Chr6:72596714 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.648G>A (p.Ser216=) single nucleotide variant Cone-rod dystrophy 7 [RCV000375112]|not provided [RCV000965013]|not specified [RCV000253206] Chr6:72179751 [GRCh38]
Chr6:72889454 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV000298478]|not provided [RCV000971888]|not specified [RCV001700007] Chr6:72182930 [GRCh38]
Chr6:72892633 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*1964C>A single nucleotide variant Cone-rod dystrophy 7 [RCV000397379] Chr6:72402678 [GRCh38]
Chr6:73112380 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=) single nucleotide variant Cone-rod dystrophy 7 [RCV000394207]|Retinal dystrophy [RCV004816611]|not provided [RCV000894958] Chr6:72274415 [GRCh38]
Chr6:72984118 [GRCh37]
Chr6:6q13
benign|likely benign|uncertain significance
NM_014989.7(RIMS1):c.*1025G>T single nucleotide variant Cone-rod dystrophy 7 [RCV000299850] Chr6:72401739 [GRCh38]
Chr6:73111441 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*75G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000374890]|not provided [RCV001775781] Chr6:72400789 [GRCh38]
Chr6:73110491 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.672A>G (p.Thr224=) single nucleotide variant Cone-rod dystrophy 7 [RCV000321595]|not provided [RCV001443308] Chr6:72179775 [GRCh38]
Chr6:72889478 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.*2125G>C single nucleotide variant Cone-rod dystrophy 7 [RCV000397365] Chr6:72402839 [GRCh38]
Chr6:73112541 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*1038A>G single nucleotide variant Cone-rod dystrophy 7 [RCV000354669] Chr6:72401752 [GRCh38]
Chr6:73111454 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro) single nucleotide variant Cone-rod dystrophy 7 [RCV000303373]|not provided [RCV000899846] Chr6:72307348 [GRCh38]
Chr6:73017051 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.4860+15G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000371588]|not provided [RCV001513743] Chr6:72399109 [GRCh38]
Chr6:73108811 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*283A>G single nucleotide variant Cone-rod dystrophy 7 [RCV000397863] Chr6:72400997 [GRCh38]
Chr6:73110699 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*44G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000336639] Chr6:72400758 [GRCh38]
Chr6:73110460 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*542A>T single nucleotide variant Cone-rod dystrophy 7 [RCV000401053] Chr6:72401256 [GRCh38]
Chr6:73110958 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=) single nucleotide variant Cone-rod dystrophy 7 [RCV000400142]|not provided [RCV001042716] Chr6:72307328 [GRCh38]
Chr6:73017031 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.*2049T>A single nucleotide variant Cone-rod dystrophy 7 [RCV000338009] Chr6:72402763 [GRCh38]
Chr6:73112465 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*1494T>C single nucleotide variant Cone-rod dystrophy 7 [RCV000326432] Chr6:72402208 [GRCh38]
Chr6:73111910 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=) single nucleotide variant Cone-rod dystrophy 7 [RCV000380862]|not provided [RCV000886827]|not specified [RCV001700346] Chr6:72251071 [GRCh38]
Chr6:72960774 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met) single nucleotide variant Cone-rod dystrophy 7 [RCV000272110]|not provided [RCV001057796] Chr6:72392704 [GRCh38]
Chr6:73102406 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=) single nucleotide variant Cone-rod dystrophy 7 [RCV000307390]|not provided [RCV000916585] Chr6:72333660 [GRCh38]
Chr6:73043363 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.*1458A>T single nucleotide variant Cone-rod dystrophy 7 [RCV000290111] Chr6:72402172 [GRCh38]
Chr6:73111874 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.165-5C>G single nucleotide variant Cone-rod dystrophy 7 [RCV000353129]|not provided [RCV001510381] Chr6:71968978 [GRCh38]
Chr6:72678681 [GRCh37]
Chr6:6q13
benign|uncertain significance
NM_014989.7(RIMS1):c.*2291C>T single nucleotide variant Cone-rod dystrophy 7 [RCV000353117] Chr6:72403005 [GRCh38]
Chr6:73112707 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.2670T>C (p.His890=) single nucleotide variant Cone-rod dystrophy 7 [RCV000625448]|not provided [RCV000883819]|not specified [RCV001700347] Chr6:72251340 [GRCh38]
Chr6:72961043 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.942G>A (p.Arg314=) single nucleotide variant Cone-rod dystrophy 7 [RCV000290235]|not provided [RCV000906146] Chr6:72182413 [GRCh38]
Chr6:72892116 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.-302C>T single nucleotide variant Cone-rod dystrophy 7 [RCV000401713] Chr6:71886722 [GRCh38]
Chr6:72596425 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV000401473]|not provided [RCV001861290] Chr6:72182855 [GRCh38]
Chr6:72892558 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=) single nucleotide variant Cone-rod dystrophy 7 [RCV000332898]|not provided [RCV001522510] Chr6:72399076 [GRCh38]
Chr6:73108778 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.2367T>C (p.Asp789=) single nucleotide variant Cone-rod dystrophy 7 [RCV000323921]|not provided [RCV000907470] Chr6:72250455 [GRCh38]
Chr6:72960158 [GRCh37]
Chr6:6q13
benign|likely benign|uncertain significance
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala) single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000364281]|not provided [RCV001861291] Chr6:72333728 [GRCh38]
Chr6:73043431 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) single nucleotide variant Cone-rod dystrophy 7 [RCV000333301]|not provided [RCV000592518] Chr6:71887051 [GRCh38]
Chr6:72596754 [GRCh37]
Chr6:6q13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.-249C>G single nucleotide variant Cone-rod dystrophy 7 [RCV000308470]|not provided [RCV004695972] Chr6:71886775 [GRCh38]
Chr6:72596478 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3171C>T (p.Ser1057=) single nucleotide variant Cone-rod dystrophy 7 [RCV000387822]|not provided [RCV000880124] Chr6:72265029 [GRCh38]
Chr6:72974732 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=) single nucleotide variant Cone-rod dystrophy 7 [RCV000312676]|not provided [RCV002524503] Chr6:72182782 [GRCh38]
Chr6:72892485 [GRCh37]
Chr6:6q13
benign|uncertain significance
NM_014989.7(RIMS1):c.3399-4A>G single nucleotide variant Cone-rod dystrophy 7 [RCV000335172]|not provided [RCV000598101] Chr6:72274345 [GRCh38]
Chr6:72984048 [GRCh37]
Chr6:6q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.2241T>C (p.Ser747=) single nucleotide variant Cone-rod dystrophy 7 [RCV000359084]|RIMS1-related disorder [RCV003932479]|not provided [RCV001303490] Chr6:72248127 [GRCh38]
Chr6:72957830 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.2792G>A (p.Arg931Lys) single nucleotide variant Cone-rod dystrophy 7 [RCV000384394] Chr6:72258146 [GRCh38]
Chr6:72967849 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.-127G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000368884] Chr6:71886897 [GRCh38]
Chr6:72596600 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=) single nucleotide variant Cone-rod dystrophy 7 [RCV000279306]|not provided [RCV000961739] Chr6:72400711 [GRCh38]
Chr6:73110413 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=) single nucleotide variant Cone-rod dystrophy 7 [RCV000338805]|not provided [RCV000940603]|not specified [RCV001699392] Chr6:72291982 [GRCh38]
Chr6:73001685 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*280C>T single nucleotide variant Cone-rod dystrophy 7 [RCV000340342] Chr6:72400994 [GRCh38]
Chr6:73110696 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.3194+9C>A single nucleotide variant Cone-rod dystrophy 7 [RCV000296607]|RIMS1-related disorder [RCV003922581]|not provided [RCV000892094] Chr6:72265061 [GRCh38]
Chr6:72974764 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.-140T>C single nucleotide variant Cone-rod dystrophy 7 [RCV000311886] Chr6:71886884 [GRCh38]
Chr6:72596587 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.594A>G (p.Thr198=) single nucleotide variant Cone-rod dystrophy 7 [RCV000318187]|not provided [RCV000950710] Chr6:72179697 [GRCh38]
Chr6:72889400 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*1935A>G single nucleotide variant Cone-rod dystrophy 7 [RCV000341340] Chr6:72402649 [GRCh38]
Chr6:73112351 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*783G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000366022] Chr6:72401497 [GRCh38]
Chr6:73111199 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*2251G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000298252] Chr6:72402965 [GRCh38]
Chr6:73112667 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.928C>G (p.Arg310Gly) single nucleotide variant Cone-rod dystrophy 7 [RCV000396055]|not provided [RCV001850909] Chr6:72182399 [GRCh38]
Chr6:72892102 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV000266698]|not provided [RCV001242333] Chr6:72250382 [GRCh38]
Chr6:72960085 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.*1991T>G single nucleotide variant Cone-rod dystrophy 7 [RCV000282779] Chr6:72402705 [GRCh38]
Chr6:73112407 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1704T>C (p.Asp568=) single nucleotide variant Cone-rod dystrophy 7 [RCV000263079] Chr6:72233798 [GRCh38]
Chr6:72943501 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1230C>G (p.Gly410=) single nucleotide variant not provided [RCV000888720]|not specified [RCV000318271] Chr6:72182701 [GRCh38]
Chr6:72892404 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.*864G>T single nucleotide variant Cone-rod dystrophy 7 [RCV000263445] Chr6:72401578 [GRCh38]
Chr6:73111280 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1453dup duplication Cone-Rod Dystrophy, Dominant [RCV000275052] Chr6:72402155..72402156 [GRCh38]
Chr6:73111857..73111858 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.4618+20del deletion Cone-Rod Dystrophy, Dominant [RCV000275451]|not provided [RCV001515282] Chr6:72392821 [GRCh38]
Chr6:73102523 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.2708G>A (p.Arg903Gln) single nucleotide variant Retinal dystrophy [RCV004816710]|not provided [RCV000487918] Chr6:72252770 [GRCh38]
Chr6:72962473 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1446A>G single nucleotide variant Cone-rod dystrophy 7 [RCV000330107] Chr6:72402160 [GRCh38]
Chr6:73111862 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1682C>T single nucleotide variant Cone-rod dystrophy 7 [RCV000381112] Chr6:72402396 [GRCh38]
Chr6:73112098 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.-181G>A single nucleotide variant Cone-rod dystrophy 7 [RCV000399712] Chr6:71886843 [GRCh38]
Chr6:72596546 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*2386T>G single nucleotide variant Cone-rod dystrophy 7 [RCV000401987] Chr6:72403100 [GRCh38]
Chr6:73112802 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.-182_-180dup duplication Cone-Rod Dystrophy, Dominant [RCV000365353] Chr6:71886840..71886841 [GRCh38]
Chr6:72596543..72596544 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.*517dup duplication Cone-Rod Dystrophy, Dominant [RCV000305333] Chr6:72401222..72401223 [GRCh38]
Chr6:73110924..73110925 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1355C>T single nucleotide variant Cone-rod dystrophy 7 [RCV000333634] Chr6:72402069 [GRCh38]
Chr6:73111771 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1457dup duplication Cone-Rod Dystrophy, Dominant [RCV000384499] Chr6:72402167..72402168 [GRCh38]
Chr6:73111869..73111870 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4618+20dup duplication Cone-Rod Dystrophy, Dominant [RCV000386150]|not provided [RCV001516407] Chr6:72392820..72392821 [GRCh38]
Chr6:73102522..73102523 [GRCh37]
Chr6:6q13
benign|uncertain significance
NM_014989.7(RIMS1):c.*1390dup duplication Cone-Rod Dystrophy, Dominant [RCV000388163] Chr6:72402103..72402104 [GRCh38]
Chr6:73111805..73111806 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.*545C>A single nucleotide variant Cone-rod dystrophy 7 [RCV000308923] Chr6:72401259 [GRCh38]
Chr6:73110961 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val) single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000370778]|not provided [RCV001205892]|not specified [RCV004022033] Chr6:72182853 [GRCh38]
Chr6:72892556 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1705C>T single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000286366] Chr6:72402419 [GRCh38]
Chr6:73112121 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1556C>T (p.Ser519Phe) single nucleotide variant Cone-rod dystrophy 7 [RCV000355685]|not provided [RCV001850910] Chr6:72183027 [GRCh38]
Chr6:72892730 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.913G>C (p.Val305Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV000344008] Chr6:72182384 [GRCh38]
Chr6:72892087 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*538C>T single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000343933] Chr6:72401252 [GRCh38]
Chr6:73110954 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala) single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000360403] Chr6:72313599 [GRCh38]
Chr6:73023302 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV001165366]|RIMS1-related disorder [RCV004757253]|not provided [RCV000598303]|not specified [RCV004024716] Chr6:71968987 [GRCh38]
Chr6:72678690 [GRCh37]
Chr6:6q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.3194+1G>A single nucleotide variant Ornithine aminotransferase deficiency [RCV001199743]|not provided [RCV000415728] Chr6:72265053 [GRCh38]
Chr6:72974756 [GRCh37]
Chr6:6q13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_014989.7(RIMS1):c.3182G>A (p.Trp1061Ter) single nucleotide variant not provided [RCV000480104] Chr6:72265040 [GRCh38]
Chr6:72974743 [GRCh37]
Chr6:6q13
pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_014989.7(RIMS1):c.3622A>G (p.Arg1208Gly) single nucleotide variant not specified [RCV004320598] Chr6:72290746 [GRCh38]
Chr6:73000449 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.269G>T (p.Ser90Ile) single nucleotide variant not specified [RCV004313938] Chr6:72096972 [GRCh38]
Chr6:72806675 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV001163772]|not provided [RCV000596111] Chr6:72291981 [GRCh38]
Chr6:73001684 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) single nucleotide variant not provided [RCV000595725] Chr6:72245840 [GRCh38]
Chr6:72955543 [GRCh37]
Chr6:6q13
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q13(chr6:72863880-72873297)x1 copy number loss not provided [RCV000745839] Chr6:72863880..72873297 [GRCh37]
Chr6:6q13
benign
GRCh37/hg19 6q13(chr6:72863880-72873653)x1 copy number loss not provided [RCV000745840] Chr6:72863880..72873653 [GRCh37]
Chr6:6q13
benign
GRCh37/hg19 6q13(chr6:72866259-72873297)x3 copy number gain not provided [RCV000745841] Chr6:72866259..72873297 [GRCh37]
Chr6:6q13
benign
GRCh37/hg19 6q13(chr6:72866914-72873297)x3 copy number gain not provided [RCV000745842] Chr6:72866914..72873297 [GRCh37]
Chr6:6q13
benign
GRCh37/hg19 6q13(chr6:72868178-72873653)x3 copy number gain not provided [RCV000745843] Chr6:72868178..72873653 [GRCh37]
Chr6:6q13
benign
GRCh37/hg19 6q13(chr6:72923329-73077688)x3 copy number gain not provided [RCV000745844] Chr6:72923329..73077688 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3053+74A>T single nucleotide variant not provided [RCV001647821] Chr6:72259185 [GRCh38]
Chr6:72968888 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1046A>C (p.Glu349Ala) single nucleotide variant not provided [RCV001052494]|not specified [RCV004031646] Chr6:72182517 [GRCh38]
Chr6:72892220 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4267G>A (p.Val1423Ile) single nucleotide variant not provided [RCV001055133] Chr6:72333736 [GRCh38]
Chr6:73043439 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4306G>A (p.Ala1436Thr) single nucleotide variant not provided [RCV001059686] Chr6:72333775 [GRCh38]
Chr6:73043478 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3281T>G (p.Leu1094Trp) single nucleotide variant Retinal dystrophy [RCV004813664]|not provided [RCV001060609] Chr6:72265476 [GRCh38]
Chr6:72975179 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3471G>A (p.Pro1157=) single nucleotide variant not provided [RCV000929456] Chr6:72274421 [GRCh38]
Chr6:72984124 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.812+10C>A single nucleotide variant not provided [RCV000923098] Chr6:72179925 [GRCh38]
Chr6:72889628 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4674T>C (p.Ile1558=) single nucleotide variant not provided [RCV000923241] Chr6:72398304 [GRCh38]
Chr6:73108006 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=) single nucleotide variant Cone-rod dystrophy 7 [RCV001158860]|RIMS1-related disorder [RCV003902936]|not provided [RCV000914746] Chr6:72333666 [GRCh38]
Chr6:73043369 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.561A>G (p.Thr187=) single nucleotide variant not provided [RCV000915423] Chr6:72179664 [GRCh38]
Chr6:72889367 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4317T>C (p.Val1439=) single nucleotide variant RIMS1-related disorder [RCV003922943]|not provided [RCV000899860] Chr6:72333786 [GRCh38]
Chr6:73043489 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2082-9T>C single nucleotide variant not provided [RCV000968092] Chr6:72245806 [GRCh38]
Chr6:72955509 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1174G>A (p.Asp392Asn) single nucleotide variant not provided [RCV001050354] Chr6:72182645 [GRCh38]
Chr6:72892348 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-20601G>A single nucleotide variant Retinal dystrophy [RCV001075457] Chr6:72213172 [GRCh38]
Chr6:72922875 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4111C>T (p.Arg1371Cys) single nucleotide variant Retinal dystrophy [RCV001075591]|not provided [RCV001341691] Chr6:72313653 [GRCh38]
Chr6:73023356 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2553A>G (p.Ile851Met) single nucleotide variant Retinal dystrophy [RCV001075777] Chr6:72251223 [GRCh38]
Chr6:72960926 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2696A>G (p.Gln899Arg) single nucleotide variant Retinal dystrophy [RCV001073257]|not provided [RCV002304231] Chr6:72251366 [GRCh38]
Chr6:72961069 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV001163770]|Retinal dystrophy [RCV004813579]|not provided [RCV001042184] Chr6:72290827 [GRCh38]
Chr6:73000530 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.164A>T (p.Lys55Met) single nucleotide variant Retinal dystrophy [RCV001074137]|not provided [RCV001862538] Chr6:71887187 [GRCh38]
Chr6:72596890 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2370A>G (p.Arg790=) single nucleotide variant Retinal dystrophy [RCV001074140]|not provided [RCV001442799] Chr6:72250458 [GRCh38]
Chr6:72960161 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.1265_1276dup (p.Pro422_Pro425dup) duplication not provided [RCV001048184] Chr6:72182727..72182728 [GRCh38]
Chr6:72892430..72892431 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2803T>C (p.Ser935Pro) single nucleotide variant not provided [RCV001066283]|not specified [RCV004030604] Chr6:72258157 [GRCh38]
Chr6:72967860 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1009G>A (p.Gly337Ser) single nucleotide variant not provided [RCV001069812] Chr6:72182480 [GRCh38]
Chr6:72892183 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5053A>G (p.Thr1685Ala) single nucleotide variant not provided [RCV001036748] Chr6:72400688 [GRCh38]
Chr6:73110390 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter) single nucleotide variant Cone-rod dystrophy 7 [RCV000778802]|not provided [RCV003727822] Chr6:72400706 [GRCh38]
Chr6:73110408 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-16555A>G single nucleotide variant not provided [RCV000926545] Chr6:72217218 [GRCh38]
Chr6:72926921 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.798A>G (p.Glu266=) single nucleotide variant Cone-rod dystrophy 7 [RCV001161852]|RIMS1-related disorder [RCV003950838]|not provided [RCV000916811] Chr6:72179901 [GRCh38]
Chr6:72889604 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4505+10G>A single nucleotide variant not provided [RCV000958970] Chr6:72390746 [GRCh38]
Chr6:73100448 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3144A>G (p.Leu1048=) single nucleotide variant not provided [RCV000903340] Chr6:72265002 [GRCh38]
Chr6:72974705 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1890A>C (p.Arg630=) single nucleotide variant not provided [RCV000919869] Chr6:72237855 [GRCh38]
Chr6:72947558 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1989C>G (p.Pro663=) single nucleotide variant not provided [RCV000981214] Chr6:72242345 [GRCh38]
Chr6:72952048 [GRCh37]
Chr6:6q13
likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_014989.7(RIMS1):c.1908C>T (p.Thr636=) single nucleotide variant not provided [RCV000976661] Chr6:72237873 [GRCh38]
Chr6:72947576 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.39C>G (p.Pro13=) single nucleotide variant Cone-rod dystrophy 7 [RCV001165365]|not provided [RCV002068004] Chr6:71887062 [GRCh38]
Chr6:72596765 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.1679-20563C>T single nucleotide variant Cone-rod dystrophy 7 [RCV000791154]|not provided [RCV004692238] Chr6:72213210 [GRCh38]
Chr6:72922913 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV001163771]|not provided [RCV001477730] Chr6:72291954 [GRCh38]
Chr6:73001657 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.*453G>C single nucleotide variant Cone-rod dystrophy 7 [RCV001163889] Chr6:72401167 [GRCh38]
Chr6:73110869 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1857+61C>T single nucleotide variant not provided [RCV000836694] Chr6:72235789 [GRCh38]
Chr6:72945492 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.2928-80C>T single nucleotide variant not provided [RCV000836695] Chr6:72258906 [GRCh38]
Chr6:72968609 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1679-9A>G single nucleotide variant not provided [RCV000979621] Chr6:72233764 [GRCh38]
Chr6:72943467 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2874C>T (p.Arg958=) single nucleotide variant not provided [RCV000918763] Chr6:72258228 [GRCh38]
Chr6:72967931 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1723C>T (p.Arg575Trp) single nucleotide variant Retinal dystrophy [RCV004813648]|not provided [RCV001057907] Chr6:72233817 [GRCh38]
Chr6:72943520 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4835A>C (p.Glu1612Ala) single nucleotide variant not provided [RCV001058965] Chr6:72399069 [GRCh38]
Chr6:73108771 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.-121C>T single nucleotide variant Cone-rod dystrophy 7 [RCV001165363] Chr6:71886903 [GRCh38]
Chr6:72596606 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1 copy number loss not provided [RCV000847757] Chr6:69481460..73185349 [GRCh37]
Chr6:6q12-13
pathogenic
NM_014989.7(RIMS1):c.1679-20641C>T single nucleotide variant not provided [RCV000998644] Chr6:72213132 [GRCh38]
Chr6:72922835 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1386G>A (p.Pro462=) single nucleotide variant Cone-rod dystrophy 7 [RCV001163670]|not provided [RCV002067990] Chr6:72182857 [GRCh38]
Chr6:72892560 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.1758G>A (p.Thr586=) single nucleotide variant Cone-rod dystrophy 7 [RCV001163671]|not provided [RCV002067991] Chr6:72235629 [GRCh38]
Chr6:72945332 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu) single nucleotide variant Cone-rod dystrophy 7 [RCV001163669] Chr6:72182835 [GRCh38]
Chr6:72892538 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.104T>C (p.Ile35Thr) single nucleotide variant not provided [RCV001230928] Chr6:71887127 [GRCh38]
Chr6:72596830 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1746G>A (p.Ser582=) single nucleotide variant not provided [RCV001246251] Chr6:72233840 [GRCh38]
Chr6:72943543 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3279A>G (p.Val1093=) single nucleotide variant Cone-rod dystrophy 7 [RCV001163479] Chr6:72265474 [GRCh38]
Chr6:72975177 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*2132A>G single nucleotide variant Cone-rod dystrophy 7 [RCV001161956] Chr6:72402846 [GRCh38]
Chr6:73112548 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2977C>T (p.His993Tyr) single nucleotide variant not provided [RCV001212517] Chr6:72259035 [GRCh38]
Chr6:72968738 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.617G>A (p.Arg206Lys) single nucleotide variant not provided [RCV001229963] Chr6:72179720 [GRCh38]
Chr6:72889423 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2261A>G (p.Lys754Arg) single nucleotide variant not provided [RCV001212549] Chr6:72250349 [GRCh38]
Chr6:72960052 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.376G>T (p.Asp126Tyr) single nucleotide variant not provided [RCV001234198] Chr6:72097079 [GRCh38]
Chr6:72806782 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4003G>A (p.Val1335Ile) single nucleotide variant not provided [RCV001236983] Chr6:72313545 [GRCh38]
Chr6:73023248 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4072C>T (p.Arg1358Cys) single nucleotide variant not provided [RCV001224084] Chr6:72313614 [GRCh38]
Chr6:73023317 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3016A>G (p.Arg1006Gly) single nucleotide variant not provided [RCV001237866] Chr6:72259074 [GRCh38]
Chr6:72968777 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1724G>A (p.Arg575Gln) single nucleotide variant not provided [RCV001239470] Chr6:72233818 [GRCh38]
Chr6:72943521 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4186A>G (p.Met1396Val) single nucleotide variant not provided [RCV001227183] Chr6:72333655 [GRCh38]
Chr6:73043358 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2617T>C (p.Ser873Pro) single nucleotide variant not provided [RCV001209306] Chr6:72251287 [GRCh38]
Chr6:72960990 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1748A>G (p.His583Arg) single nucleotide variant not provided [RCV001243065] Chr6:72235619 [GRCh38]
Chr6:72945322 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3710C>T (p.Ser1237Leu) single nucleotide variant not provided [RCV001238210] Chr6:72290834 [GRCh38]
Chr6:73000537 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1315C>G (p.Pro439Ala) single nucleotide variant not provided [RCV001227189] Chr6:72182786 [GRCh38]
Chr6:72892489 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2093G>A (p.Arg698Gln) single nucleotide variant not provided [RCV001235241] Chr6:72245826 [GRCh38]
Chr6:72955529 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3431G>A (p.Arg1144Gln) single nucleotide variant not provided [RCV001238356] Chr6:72274381 [GRCh38]
Chr6:72984084 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2311G>A (p.Ala771Thr) single nucleotide variant not provided [RCV001241604] Chr6:72250399 [GRCh38]
Chr6:72960102 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3691C>T (p.His1231Tyr) single nucleotide variant not provided [RCV001226363] Chr6:72290815 [GRCh38]
Chr6:73000518 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2633C>T (p.Pro878Leu) single nucleotide variant not provided [RCV001226397] Chr6:72251303 [GRCh38]
Chr6:72961006 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2308C>T (p.Pro770Ser) single nucleotide variant not provided [RCV001242586]|not specified [RCV004034723] Chr6:72250396 [GRCh38]
Chr6:72960099 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3176C>G (p.Ser1059Cys) single nucleotide variant not provided [RCV001240708] Chr6:72265034 [GRCh38]
Chr6:72974737 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3725C>T (p.Pro1242Leu) single nucleotide variant not provided [RCV001240763]|not specified [RCV004034661] Chr6:72290849 [GRCh38]
Chr6:73000552 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3187A>T (p.Ile1063Phe) single nucleotide variant not provided [RCV001232450]|not specified [RCV004033167] Chr6:72265045 [GRCh38]
Chr6:72974748 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2446T>G (p.Ser816Ala) single nucleotide variant not provided [RCV001207402] Chr6:72250994 [GRCh38]
Chr6:72960697 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.238C>T (p.Pro80Ser) single nucleotide variant not provided [RCV001207408] Chr6:71969056 [GRCh38]
Chr6:72678759 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1228G>A (p.Gly410Ser) single nucleotide variant not provided [RCV001241108] Chr6:72182699 [GRCh38]
Chr6:72892402 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV001196227] Chr6:72307326 [GRCh38]
Chr6:73017029 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1534T>C (p.Ser512Pro) single nucleotide variant not provided [RCV001212732] Chr6:72183005 [GRCh38]
Chr6:72892708 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1214C>G (p.Pro405Arg) single nucleotide variant not provided [RCV001230843] Chr6:72182685 [GRCh38]
Chr6:72892388 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.881C>G (p.Pro294Arg) single nucleotide variant not specified [RCV004313137] Chr6:72182352 [GRCh38]
Chr6:72892055 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3985T>C (p.Tyr1329His) single nucleotide variant not specified [RCV004315921] Chr6:72313527 [GRCh38]
Chr6:73023230 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV001158861] Chr6:72390673 [GRCh38]
Chr6:73100375 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile) single nucleotide variant Cone-rod dystrophy 7 [RCV001158862] Chr6:72390675 [GRCh38]
Chr6:73100377 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1280G>A single nucleotide variant Cone-rod dystrophy 7 [RCV001158958]|not provided [RCV004695010] Chr6:72401994 [GRCh38]
Chr6:73111696 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1310A>G single nucleotide variant Cone-rod dystrophy 7 [RCV001158959] Chr6:72402024 [GRCh38]
Chr6:73111726 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV001165364]|not provided [RCV001859061] Chr6:71887052 [GRCh38]
Chr6:72596755 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu) single nucleotide variant Cone-rod dystrophy 7 [RCV001160102]|not provided [RCV003669208] Chr6:72258181 [GRCh38]
Chr6:72967884 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*941T>C single nucleotide variant Cone-rod dystrophy 7 [RCV001163890] Chr6:72401655 [GRCh38]
Chr6:73111357 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV001158635]|not provided [RCV001519164] Chr6:72097161 [GRCh38]
Chr6:72806864 [GRCh37]
Chr6:6q13
benign
NC_000006.11:g.(?_72889258)_(73332335_?)del deletion not provided [RCV003105585] Chr6:72889258..73332335 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-20550G>A single nucleotide variant Autism spectrum disorder [RCV003128056] Chr6:72213223 [GRCh38]
Chr6:72922926 [GRCh37]
Chr6:6q13
likely pathogenic
NM_014989.7(RIMS1):c.812+10C>T single nucleotide variant Retinal dystrophy [RCV004814158] Chr6:72179925 [GRCh38]
Chr6:72889628 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3555-91G>A single nucleotide variant not provided [RCV001599137] Chr6:72290588 [GRCh38]
Chr6:73000291 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3482+79A>T single nucleotide variant not provided [RCV001690685] Chr6:72274511 [GRCh38]
Chr6:72984214 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3850+7G>A single nucleotide variant not provided [RCV001700933] Chr6:72292053 [GRCh38]
Chr6:73001756 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.165-8C>T single nucleotide variant not provided [RCV000936536] Chr6:71968975 [GRCh38]
Chr6:72678678 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.642G>A (p.Glu214=) single nucleotide variant not provided [RCV000925186] Chr6:72179745 [GRCh38]
Chr6:72889448 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4455G>A (p.Pro1485=) single nucleotide variant not provided [RCV000914658] Chr6:72390686 [GRCh38]
Chr6:73100388 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3588C>T (p.His1196=) single nucleotide variant Cone-rod dystrophy 7 [RCV001163768]|not provided [RCV000923595] Chr6:72290712 [GRCh38]
Chr6:73000415 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=) single nucleotide variant Cone-rod dystrophy 7 [RCV001160203]|not provided [RCV000950711] Chr6:72400558 [GRCh38]
Chr6:73110260 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1833C>T (p.Asp611=) single nucleotide variant not provided [RCV000906487] Chr6:72235704 [GRCh38]
Chr6:72945407 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1678+10C>T single nucleotide variant RIMS1-related disorder [RCV003978077]|not provided [RCV000929140] Chr6:72183159 [GRCh38]
Chr6:72892862 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.402T>C (p.Tyr134=) single nucleotide variant not provided [RCV000943531] Chr6:72097105 [GRCh38]
Chr6:72806808 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3554+2T>C single nucleotide variant not provided [RCV001212404] Chr6:72284120 [GRCh38]
Chr6:72993823 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1630A>G (p.Thr544Ala) single nucleotide variant not provided [RCV001242162] Chr6:72183101 [GRCh38]
Chr6:72892804 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.423G>A (p.Ala141=) single nucleotide variant Cone-rod dystrophy 7 [RCV001158634]|not provided [RCV001497350] Chr6:72097126 [GRCh38]
Chr6:72806829 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1957+10C>A single nucleotide variant Cone-rod dystrophy 7 [RCV001158741]|not provided [RCV003769760] Chr6:72237932 [GRCh38]
Chr6:72947635 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.2241+14G>A single nucleotide variant Cone-rod dystrophy 7 [RCV001158742] Chr6:72248141 [GRCh38]
Chr6:72957844 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3850+6C>T single nucleotide variant not provided [RCV001242536] Chr6:72292052 [GRCh38]
Chr6:73001755 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1567G>T (p.Gly523Cys) single nucleotide variant not provided [RCV001244575] Chr6:72183038 [GRCh38]
Chr6:72892741 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3401G>A (p.Gly1134Asp) single nucleotide variant not provided [RCV001212610] Chr6:72274351 [GRCh38]
Chr6:72984054 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1778G>A (p.Gly593Glu) single nucleotide variant not provided [RCV001219070] Chr6:72235649 [GRCh38]
Chr6:72945352 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2545-3C>T single nucleotide variant not provided [RCV001242880] Chr6:72251212 [GRCh38]
Chr6:72960915 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.642G>C (p.Glu214Asp) single nucleotide variant not provided [RCV001244717] Chr6:72179745 [GRCh38]
Chr6:72889448 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*397G>A single nucleotide variant Cone-rod dystrophy 7 [RCV001163888] Chr6:72401111 [GRCh38]
Chr6:73110813 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.72C>G (p.Asp24Glu) single nucleotide variant not provided [RCV001239568] Chr6:71887095 [GRCh38]
Chr6:72596798 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala) single nucleotide variant Cone-rod dystrophy 7 [RCV001163381]|not provided [RCV001228934] Chr6:72182768 [GRCh38]
Chr6:72892471 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=) single nucleotide variant Cone-rod dystrophy 7 [RCV001163478]|not provided [RCV002067987] Chr6:72265444 [GRCh38]
Chr6:72975147 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=) single nucleotide variant Cone-rod dystrophy 7 [RCV001160202]|not provided [RCV002070980] Chr6:72392791 [GRCh38]
Chr6:73102493 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.*1690G>A single nucleotide variant Cone-rod dystrophy 7 [RCV001160296] Chr6:72402404 [GRCh38]
Chr6:73112106 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.436C>T (p.Arg146Cys) single nucleotide variant not provided [RCV001208744] Chr6:72097139 [GRCh38]
Chr6:72806842 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4746G>A (p.Leu1582=) single nucleotide variant not provided [RCV001054422] Chr6:72398980 [GRCh38]
Chr6:73108682 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4222C>G (p.Leu1408Val) single nucleotide variant not provided [RCV001054598] Chr6:72333691 [GRCh38]
Chr6:73043394 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1956A>G (p.Ala652=) single nucleotide variant not provided [RCV001234355] Chr6:72237921 [GRCh38]
Chr6:72947624 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1892T>C (p.Leu631Pro) single nucleotide variant not provided [RCV001057437] Chr6:72237857 [GRCh38]
Chr6:72947560 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val) single nucleotide variant Cone-rod dystrophy 7 [RCV001196871] Chr6:72313609 [GRCh38]
Chr6:73023312 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.443C>T (p.Ser148Phe) single nucleotide variant not provided [RCV001227987] Chr6:72097146 [GRCh38]
Chr6:72806849 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3069G>A (p.Leu1023=) single nucleotide variant not provided [RCV000913621] Chr6:72260720 [GRCh38]
Chr6:72970423 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2372+9T>C single nucleotide variant not provided [RCV000911783] Chr6:72250469 [GRCh38]
Chr6:72960172 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4050T>A (p.Ile1350=) single nucleotide variant not provided [RCV000934183] Chr6:72313592 [GRCh38]
Chr6:73023295 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4459C>T (p.Arg1487Ter) single nucleotide variant Retinal dystrophy [RCV004814459] Chr6:72390690 [GRCh38]
Chr6:73100392 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2626C>A (p.Pro876Thr) single nucleotide variant Retinal dystrophy [RCV004815870] Chr6:72251296 [GRCh38]
Chr6:72960999 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.460-37C>T single nucleotide variant not provided [RCV001684602] Chr6:72099938 [GRCh38]
Chr6:72809641 [GRCh37]
Chr6:6q13
benign
GRCh37/hg19 6q13(chr6:72181114-72765924)x3 copy number gain not provided [RCV001005811] Chr6:72181114..72765924 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV001160101] Chr6:72258141 [GRCh38]
Chr6:72967844 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3454A>C (p.Ile1152Leu) single nucleotide variant not provided [RCV001066601] Chr6:72274404 [GRCh38]
Chr6:72984107 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*2357C>G single nucleotide variant Cone-rod dystrophy 7 [RCV001161957] Chr6:72403071 [GRCh38]
Chr6:73112773 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser) single nucleotide variant Cone-rod dystrophy 7 [RCV001163379] Chr6:72182425 [GRCh38]
Chr6:72892128 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3308+12T>G single nucleotide variant Cone-rod dystrophy 7 [RCV001163480]|not provided [RCV001512860] Chr6:72265515 [GRCh38]
Chr6:72975218 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.*1134C>T single nucleotide variant Cone-rod dystrophy 7 [RCV001158956] Chr6:72401848 [GRCh38]
Chr6:73111550 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3554+13T>C single nucleotide variant Cone-rod dystrophy 7 [RCV001163767] Chr6:72284131 [GRCh38]
Chr6:72993834 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV001163769]|not provided [RCV001346432]|not specified [RCV004032869] Chr6:72290713 [GRCh38]
Chr6:73000416 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.459+12A>G single nucleotide variant Cone-rod dystrophy 7 [RCV001158637]|not provided [RCV001519979] Chr6:72097174 [GRCh38]
Chr6:72806877 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.2545-4T>C single nucleotide variant Cone-rod dystrophy 7 [RCV001158744]|RIMS1-related disorder [RCV004731096]|not provided [RCV001477071] Chr6:72251211 [GRCh38]
Chr6:72960914 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.647C>T (p.Ser216Leu) single nucleotide variant not provided [RCV001063734] Chr6:72179750 [GRCh38]
Chr6:72889453 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2865T>C (p.Ser955=) single nucleotide variant Cone-rod dystrophy 7 [RCV001160103] Chr6:72258219 [GRCh38]
Chr6:72967922 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2868T>C (p.Pro956=) single nucleotide variant Cone-rod dystrophy 7 [RCV001160104] Chr6:72258222 [GRCh38]
Chr6:72967925 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3203T>G (p.Leu1068Arg) single nucleotide variant not provided [RCV001229086] Chr6:72265398 [GRCh38]
Chr6:72975101 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile) single nucleotide variant Retinitis pigmentosa [RCV001591838]|not provided [RCV001866152] Chr6:72252820 [GRCh38]
Chr6:72962523 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-20565G>A single nucleotide variant not provided [RCV001693806] Chr6:72213208 [GRCh38]
Chr6:72922911 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.2624T>C (p.Leu875Pro) single nucleotide variant not provided [RCV001066651] Chr6:72251294 [GRCh38]
Chr6:72960997 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1987C>A (p.Pro663Thr) single nucleotide variant not provided [RCV001236597] Chr6:72242343 [GRCh38]
Chr6:72952046 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3130C>T (p.His1044Tyr) single nucleotide variant not provided [RCV001067001] Chr6:72264988 [GRCh38]
Chr6:72974691 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3711G>A (p.Ser1237=) single nucleotide variant not provided [RCV001067302] Chr6:72290835 [GRCh38]
Chr6:73000538 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.1151C>T (p.Ala384Val) single nucleotide variant not provided [RCV001039290]|not specified [RCV004659300] Chr6:72182622 [GRCh38]
Chr6:72892325 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.708C>A (p.Ser236Arg) single nucleotide variant not provided [RCV001040093] Chr6:72179811 [GRCh38]
Chr6:72889514 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1765C>A (p.Pro589Thr) single nucleotide variant not provided [RCV001215978] Chr6:72235636 [GRCh38]
Chr6:72945339 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3257A>C (p.His1086Pro) single nucleotide variant not provided [RCV001215979] Chr6:72265452 [GRCh38]
Chr6:72975155 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1784G>A (p.Arg595Gln) single nucleotide variant Retinal dystrophy [RCV001074562]|not provided [RCV001862564] Chr6:72235655 [GRCh38]
Chr6:72945358 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3694C>A (p.Leu1232Ile) single nucleotide variant not provided [RCV001230137] Chr6:72290818 [GRCh38]
Chr6:73000521 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4668A>C (p.Glu1556Asp) single nucleotide variant not provided [RCV001236798] Chr6:72398298 [GRCh38]
Chr6:73108000 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.460G>C (p.Glu154Gln) single nucleotide variant not provided [RCV001041879] Chr6:72099975 [GRCh38]
Chr6:72809678 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2963G>A (p.Arg988His) single nucleotide variant not provided [RCV001205300] Chr6:72259021 [GRCh38]
Chr6:72968724 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3923C>A (p.Ser1308Tyr) single nucleotide variant RIMS1-related disorder [RCV003908451]|not provided [RCV001231003] Chr6:72307330 [GRCh38]
Chr6:73017033 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu) single nucleotide variant Cone-rod dystrophy 7 [RCV001163380]|Retinal dystrophy [RCV001074089]|not provided [RCV001055483]|not specified [RCV004671199] Chr6:72182559 [GRCh38]
Chr6:72892262 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) single nucleotide variant Cone-rod dystrophy 7 [RCV001163481]|Retinal dystrophy [RCV004813757]|not provided [RCV001093178] Chr6:72274380 [GRCh38]
Chr6:72984083 [GRCh37]
Chr6:6q13
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014989.7(RIMS1):c.*189A>T single nucleotide variant Cone-rod dystrophy 7 [RCV001163581] Chr6:72400903 [GRCh38]
Chr6:73110605 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*202G>C single nucleotide variant Cone-rod dystrophy 7 [RCV001163582] Chr6:72400916 [GRCh38]
Chr6:73110618 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1405C>G (p.Pro469Ala) single nucleotide variant not provided [RCV001202891] Chr6:72182876 [GRCh38]
Chr6:72892579 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1366C>G (p.Pro456Ala) single nucleotide variant not provided [RCV001043957] Chr6:72182837 [GRCh38]
Chr6:72892540 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4712C>T (p.Ser1571Phe) single nucleotide variant not provided [RCV001236327] Chr6:72398342 [GRCh38]
Chr6:73108044 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2764C>A (p.Pro922Thr) single nucleotide variant not provided [RCV001037864]|not specified [RCV004031045] Chr6:72252826 [GRCh38]
Chr6:72962529 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3741G>T (p.Met1247Ile) single nucleotide variant not provided [RCV001230844] Chr6:72291937 [GRCh38]
Chr6:73001640 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys) single nucleotide variant Cone-rod dystrophy 7 [RCV001196149]|not provided [RCV002560216] Chr6:72258250 [GRCh38]
Chr6:72967953 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4725A>G (p.Pro1575=) single nucleotide variant not provided [RCV001212065] Chr6:72398959 [GRCh38]
Chr6:73108661 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.70G>A (p.Asp24Asn) single nucleotide variant not provided [RCV001204574] Chr6:71887093 [GRCh38]
Chr6:72596796 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.459C>T (p.Asn153=) single nucleotide variant Cone-rod dystrophy 7 [RCV001158636]|not provided [RCV001369033] Chr6:72097162 [GRCh38]
Chr6:72806865 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2242-12C>T single nucleotide variant Cone-rod dystrophy 7 [RCV001158743]|not provided [RCV002070956] Chr6:72250318 [GRCh38]
Chr6:72960021 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.*1230A>C single nucleotide variant Cone-rod dystrophy 7 [RCV001158957] Chr6:72401944 [GRCh38]
Chr6:73111646 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV001161853]|not provided [RCV001069488]|not specified [RCV004030715] Chr6:72182297 [GRCh38]
Chr6:72892000 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.2770+2T>C single nucleotide variant Cone-rod dystrophy 7 [RCV001028030] Chr6:72252834 [GRCh38]
Chr6:72962537 [GRCh37]
Chr6:6q13
likely pathogenic
NM_014989.7(RIMS1):c.1957+5dup duplication Retinal dystrophy [RCV001073871] Chr6:72237924..72237925 [GRCh38]
Chr6:72947627..72947628 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV001160204]|not provided [RCV001206482]|not specified [RCV004032845] Chr6:72400580 [GRCh38]
Chr6:73110282 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg) single nucleotide variant Cone-rod dystrophy 7 [RCV001160205] Chr6:72400605 [GRCh38]
Chr6:73110307 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.*1702G>A single nucleotide variant Cone-rod dystrophy 7 [RCV001160297] Chr6:72402416 [GRCh38]
Chr6:73112118 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1744T>G (p.Ser582Ala) single nucleotide variant RIMS1-related disorder [RCV004757373]|Retinal dystrophy [RCV001074096]|not provided [RCV001363675] Chr6:72233838 [GRCh38]
Chr6:72943541 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3832A>G (p.Ser1278Gly) single nucleotide variant not provided [RCV001040114] Chr6:72292028 [GRCh38]
Chr6:73001731 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys) single nucleotide variant Cone-rod dystrophy 7 [RCV001163378]|not provided [RCV001040651] Chr6:72182399 [GRCh38]
Chr6:72892102 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.2077A>G (p.Ile693Val) single nucleotide variant Retinal dystrophy [RCV001075544] Chr6:72242433 [GRCh38]
Chr6:72952136 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu) single nucleotide variant Cone-rod dystrophy 7 [RCV001336225]|not provided [RCV001231926] Chr6:72258244 [GRCh38]
Chr6:72967947 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.*2429G>A single nucleotide variant Cone-rod dystrophy 7 [RCV001161958] Chr6:72403143 [GRCh38]
Chr6:73112845 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3835G>A (p.Gly1279Ser) single nucleotide variant not provided [RCV001204529] Chr6:72292031 [GRCh38]
Chr6:73001734 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4681C>T (p.Arg1561Ter) single nucleotide variant not specified [RCV001264557] Chr6:72398311 [GRCh38]
Chr6:73108013 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q13(chr6:71351541-72837211)x1 copy number loss not provided [RCV001259383] Chr6:71351541..72837211 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1261C>T (p.Pro421Ser) single nucleotide variant not provided [RCV001304242]|not specified [RCV004036305] Chr6:72182732 [GRCh38]
Chr6:72892435 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2074C>T (p.Pro692Ser) single nucleotide variant not provided [RCV001350181] Chr6:72242430 [GRCh38]
Chr6:72952133 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2993G>A (p.Arg998Gln) single nucleotide variant not provided [RCV001348581] Chr6:72259051 [GRCh38]
Chr6:72968754 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1131G>A (p.Met377Ile) single nucleotide variant not provided [RCV001295112]|not specified [RCV004035632] Chr6:72182602 [GRCh38]
Chr6:72892305 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4613C>A (p.Ala1538Glu) single nucleotide variant not provided [RCV001349959] Chr6:72392805 [GRCh38]
Chr6:73102507 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3980A>G (p.Asp1327Gly) single nucleotide variant not provided [RCV001348227] Chr6:72313522 [GRCh38]
Chr6:73023225 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3845A>G (p.Glu1282Gly) single nucleotide variant not provided [RCV001907711] Chr6:72292041 [GRCh38]
Chr6:73001744 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.463G>A (p.Asp155Asn) single nucleotide variant not provided [RCV001324706] Chr6:72099978 [GRCh38]
Chr6:72809681 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.721A>G (p.Arg241Gly) single nucleotide variant not provided [RCV001326714] Chr6:72179824 [GRCh38]
Chr6:72889527 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3755G>A (p.Ser1252Asn) single nucleotide variant not provided [RCV001319040] Chr6:72291951 [GRCh38]
Chr6:73001654 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1391_1405del (p.Leu464_Glu468del) deletion not provided [RCV001304921] Chr6:72182857..72182871 [GRCh38]
Chr6:72892560..72892574 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1823T>C (p.Met608Thr) single nucleotide variant not provided [RCV001320039] Chr6:72235694 [GRCh38]
Chr6:72945397 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4391G>C (p.Ser1464Thr) single nucleotide variant not provided [RCV001341403] Chr6:72390622 [GRCh38]
Chr6:73100324 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1889G>A (p.Arg630Gln) single nucleotide variant not provided [RCV001317664] Chr6:72237854 [GRCh38]
Chr6:72947557 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3565A>G (p.Thr1189Ala) single nucleotide variant not provided [RCV001327734] Chr6:72290689 [GRCh38]
Chr6:73000392 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.959A>G (p.Glu320Gly) single nucleotide variant not provided [RCV001317744] Chr6:72182430 [GRCh38]
Chr6:72892133 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.757G>C (p.Gly253Arg) single nucleotide variant not provided [RCV001320801] Chr6:72179860 [GRCh38]
Chr6:72889563 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1891C>G (p.Leu631Val) single nucleotide variant not provided [RCV001306110] Chr6:72237856 [GRCh38]
Chr6:72947559 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2269C>T (p.His757Tyr) single nucleotide variant not provided [RCV001339576] Chr6:72250357 [GRCh38]
Chr6:72960060 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4460G>A (p.Arg1487Gln) single nucleotide variant not provided [RCV001314721] Chr6:72390691 [GRCh38]
Chr6:73100393 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1250C>T (p.Ala417Val) single nucleotide variant not provided [RCV001312387] Chr6:72182721 [GRCh38]
Chr6:72892424 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3104T>C (p.Leu1035Pro) single nucleotide variant not provided [RCV001317918] Chr6:72260755 [GRCh38]
Chr6:72970458 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3221C>T (p.Thr1074Ile) single nucleotide variant not provided [RCV001312565]|not specified [RCV004671331] Chr6:72265416 [GRCh38]
Chr6:72975119 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1453C>G (p.Arg485Gly) single nucleotide variant not provided [RCV001294824] Chr6:72182924 [GRCh38]
Chr6:72892627 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2405A>G (p.Lys802Arg) single nucleotide variant not provided [RCV001318126]|not specified [RCV004034925] Chr6:72250953 [GRCh38]
Chr6:72960656 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2771-1G>A single nucleotide variant not provided [RCV001324918] Chr6:72258124 [GRCh38]
Chr6:72967827 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2326C>T (p.Arg776Cys) single nucleotide variant not provided [RCV001302203] Chr6:72250414 [GRCh38]
Chr6:72960117 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.583G>A (p.Asp195Asn) single nucleotide variant not provided [RCV001342929] Chr6:72179686 [GRCh38]
Chr6:72889389 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.211A>C (p.Arg71=) single nucleotide variant not provided [RCV001422733] Chr6:71969029 [GRCh38]
Chr6:72678732 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3495G>A (p.Lys1165=) single nucleotide variant not provided [RCV001415124] Chr6:72284059 [GRCh38]
Chr6:72993762 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.52C>A (p.Pro18Thr) single nucleotide variant not provided [RCV001297169] Chr6:71887075 [GRCh38]
Chr6:72596778 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4846G>T (p.Gly1616Cys) single nucleotide variant not provided [RCV001339202] Chr6:72399080 [GRCh38]
Chr6:73108782 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3554+4G>A single nucleotide variant not provided [RCV001327926] Chr6:72284122 [GRCh38]
Chr6:72993825 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3851-4G>A single nucleotide variant not provided [RCV001432974] Chr6:72307254 [GRCh38]
Chr6:73016957 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1124T>C (p.Met375Thr) single nucleotide variant not provided [RCV001338270] Chr6:72182595 [GRCh38]
Chr6:72892298 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5020C>A (p.Arg1674=) single nucleotide variant not provided [RCV001363301] Chr6:72400655 [GRCh38]
Chr6:73110357 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3797G>A (p.Arg1266His) single nucleotide variant not provided [RCV001361803] Chr6:72291993 [GRCh38]
Chr6:73001696 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5011C>A (p.Pro1671Thr) single nucleotide variant not provided [RCV001368230] Chr6:72400646 [GRCh38]
Chr6:73110348 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-20587G>A single nucleotide variant RIMS1-related disorder [RCV003953683]|not provided [RCV001356408] Chr6:72213186 [GRCh38]
Chr6:72922889 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe) single nucleotide variant RIMS1-related disorder [RCV003928859]|not provided [RCV001356663] Chr6:72307366 [GRCh38]
Chr6:73017069 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.165-7G>A single nucleotide variant not provided [RCV001391809] Chr6:71968976 [GRCh38]
Chr6:72678679 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3107A>G (p.His1036Arg) single nucleotide variant not provided [RCV001316425] Chr6:72260758 [GRCh38]
Chr6:72970461 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4938C>T (p.Leu1646=) single nucleotide variant not provided [RCV001413330] Chr6:72400573 [GRCh38]
Chr6:73110275 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.227A>T (p.Gln76Leu) single nucleotide variant not provided [RCV001298013] Chr6:71969045 [GRCh38]
Chr6:72678748 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.649C>T (p.Arg217Trp) single nucleotide variant not provided [RCV001305972]|not specified [RCV004034079] Chr6:72179752 [GRCh38]
Chr6:72889455 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2452G>A (p.Val818Ile) single nucleotide variant not provided [RCV001348866] Chr6:72251000 [GRCh38]
Chr6:72960703 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.45G>A (p.Val15=) single nucleotide variant not provided [RCV001396087] Chr6:71887068 [GRCh38]
Chr6:72596771 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1704T>G (p.Asp568Glu) single nucleotide variant not provided [RCV001362597] Chr6:72233798 [GRCh38]
Chr6:72943501 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3946C>T (p.Arg1316Cys) single nucleotide variant not provided [RCV001362723] Chr6:72307353 [GRCh38]
Chr6:73017056 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4860+3C>T single nucleotide variant not provided [RCV001372000] Chr6:72399097 [GRCh38]
Chr6:73108799 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3953A>G (p.Gln1318Arg) single nucleotide variant not provided [RCV001322748] Chr6:72307360 [GRCh38]
Chr6:73017063 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3401G>C (p.Gly1134Ala) single nucleotide variant not provided [RCV001326243] Chr6:72274351 [GRCh38]
Chr6:72984054 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.917A>C (p.Glu306Ala) single nucleotide variant not provided [RCV001326259] Chr6:72182388 [GRCh38]
Chr6:72892091 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.256C>G (p.Gln86Glu) single nucleotide variant not provided [RCV001343576] Chr6:72096959 [GRCh38]
Chr6:72806662 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.905A>C (p.Glu302Ala) single nucleotide variant not provided [RCV001323883] Chr6:72182376 [GRCh38]
Chr6:72892079 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1309A>G (p.Arg437Gly) single nucleotide variant not provided [RCV001344819] Chr6:72182780 [GRCh38]
Chr6:72892483 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1450A>G (p.Met484Val) single nucleotide variant not provided [RCV001345796] Chr6:72182921 [GRCh38]
Chr6:72892624 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.895C>G (p.Gln299Glu) single nucleotide variant not provided [RCV001371544] Chr6:72182366 [GRCh38]
Chr6:72892069 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_73016941)_(73023395_?)dup duplication not provided [RCV001365066] Chr6:73016941..73023395 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3048A>C (p.Gln1016His) single nucleotide variant not provided [RCV001318709] Chr6:72259106 [GRCh38]
Chr6:72968809 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_72974678)_(72975206_?)del deletion not provided [RCV001352143] Chr6:72974678..72975206 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3825A>G (p.Pro1275=) single nucleotide variant not provided [RCV001365183] Chr6:72292021 [GRCh38]
Chr6:73001724 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3583G>A (p.Gly1195Arg) single nucleotide variant not provided [RCV001365222] Chr6:72290707 [GRCh38]
Chr6:73000410 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1328_1329delinsCC (p.Gln443Pro) indel not provided [RCV001305692] Chr6:72182799..72182800 [GRCh38]
Chr6:72892502..72892503 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.616A>G (p.Arg206Gly) single nucleotide variant not provided [RCV001342478] Chr6:72179719 [GRCh38]
Chr6:72889422 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1185_1211del (p.Arg397_Pro405del) deletion not provided [RCV001361370] Chr6:72182650..72182676 [GRCh38]
Chr6:72892353..72892379 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3713C>T (p.Ala1238Val) single nucleotide variant not provided [RCV001320658] Chr6:72290837 [GRCh38]
Chr6:73000540 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3143T>G (p.Leu1048Ter) single nucleotide variant not provided [RCV001323250] Chr6:72265001 [GRCh38]
Chr6:72974704 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.422C>T (p.Ala141Val) single nucleotide variant not provided [RCV001322279] Chr6:72097125 [GRCh38]
Chr6:72806828 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.986A>G (p.Asp329Gly) single nucleotide variant not provided [RCV001347511] Chr6:72182457 [GRCh38]
Chr6:72892160 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3895G>T (p.Val1299Leu) single nucleotide variant not provided [RCV001300809] Chr6:72307302 [GRCh38]
Chr6:73017005 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1189C>T (p.Arg397Cys) single nucleotide variant not provided [RCV001322398] Chr6:72182660 [GRCh38]
Chr6:72892363 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4112G>A (p.Arg1371His) single nucleotide variant not provided [RCV001349919] Chr6:72313654 [GRCh38]
Chr6:73023357 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1096G>A (p.Val366Met) single nucleotide variant not provided [RCV001316270] Chr6:72182567 [GRCh38]
Chr6:72892270 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2584C>A (p.Pro862Thr) single nucleotide variant not provided [RCV001298769] Chr6:72251254 [GRCh38]
Chr6:72960957 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1360C>T (p.His454Tyr) single nucleotide variant not provided [RCV001318186] Chr6:72182831 [GRCh38]
Chr6:72892534 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4049T>C (p.Ile1350Thr) single nucleotide variant not provided [RCV001318321] Chr6:72313591 [GRCh38]
Chr6:73023294 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.185C>T (p.Ala62Val) single nucleotide variant not provided [RCV001298944] Chr6:71969003 [GRCh38]
Chr6:72678706 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.308G>A (p.Arg103Gln) single nucleotide variant not provided [RCV001315446] Chr6:72097011 [GRCh38]
Chr6:72806714 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2977C>G (p.His993Asp) single nucleotide variant not provided [RCV001366330] Chr6:72259035 [GRCh38]
Chr6:72968738 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4331G>A (p.Arg1444Gln) single nucleotide variant not provided [RCV001314609] Chr6:72333800 [GRCh38]
Chr6:73043503 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3482+6A>G single nucleotide variant not provided [RCV001296908] Chr6:72274438 [GRCh38]
Chr6:72984141 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3148C>A (p.Pro1050Thr) single nucleotide variant not provided [RCV001299705] Chr6:72265006 [GRCh38]
Chr6:72974709 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4184T>C (p.Ile1395Thr) single nucleotide variant not provided [RCV001359496] Chr6:72333653 [GRCh38]
Chr6:73043356 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2843A>G (p.His948Arg) single nucleotide variant not provided [RCV001366677] Chr6:72258197 [GRCh38]
Chr6:72967900 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.674C>T (p.Ala225Val) single nucleotide variant not provided [RCV001367156] Chr6:72179777 [GRCh38]
Chr6:72889480 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3112A>G (p.Thr1038Ala) single nucleotide variant not provided [RCV001325772] Chr6:72260763 [GRCh38]
Chr6:72970466 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5024G>A (p.Arg1675Gln) single nucleotide variant not provided [RCV001360818] Chr6:72400659 [GRCh38]
Chr6:73110361 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4205G>C (p.Ser1402Thr) single nucleotide variant not provided [RCV001348201] Chr6:72333674 [GRCh38]
Chr6:73043377 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1245G>A (p.Ala415=) single nucleotide variant not provided [RCV001395592] Chr6:72182716 [GRCh38]
Chr6:72892419 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1241C>G (p.Pro414Arg) single nucleotide variant not provided [RCV001361236] Chr6:72182712 [GRCh38]
Chr6:72892415 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3783A>T (p.Thr1261=) single nucleotide variant not provided [RCV001412870] Chr6:72291979 [GRCh38]
Chr6:73001682 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.123C>T (p.Asp41=) single nucleotide variant not provided [RCV001421884] Chr6:71887146 [GRCh38]
Chr6:72596849 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1757C>T (p.Thr586Met) single nucleotide variant not provided [RCV001317328] Chr6:72235628 [GRCh38]
Chr6:72945331 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1106C>T (p.Pro369Leu) single nucleotide variant not provided [RCV001306812] Chr6:72182577 [GRCh38]
Chr6:72892280 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1479G>T (p.Glu493Asp) single nucleotide variant not provided [RCV001355989] Chr6:72182950 [GRCh38]
Chr6:72892653 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1807A>C (p.Asn603His) single nucleotide variant not provided [RCV001339569] Chr6:72235678 [GRCh38]
Chr6:72945381 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1778G>C (p.Gly593Ala) single nucleotide variant not provided [RCV001317597] Chr6:72235649 [GRCh38]
Chr6:72945352 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.13G>T (p.Val5Leu) single nucleotide variant not provided [RCV001365826] Chr6:71887036 [GRCh38]
Chr6:72596739 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2680T>G (p.Ser894Ala) single nucleotide variant not provided [RCV001337539] Chr6:72251350 [GRCh38]
Chr6:72961053 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4218C>T (p.Tyr1406=) single nucleotide variant not provided [RCV001450411] Chr6:72333687 [GRCh38]
Chr6:73043390 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3837C>A (p.Gly1279=) single nucleotide variant not provided [RCV001453378] Chr6:72292033 [GRCh38]
Chr6:73001736 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3726G>A (p.Pro1242=) single nucleotide variant not provided [RCV001485416] Chr6:72290850 [GRCh38]
Chr6:73000553 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4827T>G (p.Val1609=) single nucleotide variant not provided [RCV001470017] Chr6:72399061 [GRCh38]
Chr6:73108763 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.915C>G (p.Val305=) single nucleotide variant not provided [RCV001424930] Chr6:72182386 [GRCh38]
Chr6:72892089 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3807A>G (p.Arg1269=) single nucleotide variant not provided [RCV001473562] Chr6:72292003 [GRCh38]
Chr6:73001706 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.876C>G (p.Arg292=) single nucleotide variant RIMS1-related disorder [RCV003920980]|not provided [RCV001462633] Chr6:72182347 [GRCh38]
Chr6:72892050 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4182C>A (p.Ser1394=) single nucleotide variant not provided [RCV001454484] Chr6:72333651 [GRCh38]
Chr6:73043354 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-9A>T single nucleotide variant not provided [RCV001488741] Chr6:72233764 [GRCh38]
Chr6:72943467 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3804A>G (p.Gly1268=) single nucleotide variant not provided [RCV001475528] Chr6:72292000 [GRCh38]
Chr6:73001703 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3482+8T>G single nucleotide variant not provided [RCV001469140] Chr6:72274440 [GRCh38]
Chr6:72984143 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3301C>T (p.Leu1101=) single nucleotide variant not provided [RCV001455369] Chr6:72265496 [GRCh38]
Chr6:72975199 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2964T>C (p.Arg988=) single nucleotide variant not provided [RCV001466521] Chr6:72259022 [GRCh38]
Chr6:72968725 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2568G>A (p.Ala856=) single nucleotide variant not provided [RCV001431455] Chr6:72251238 [GRCh38]
Chr6:72960941 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4619-8A>C single nucleotide variant not provided [RCV001497840] Chr6:72398241 [GRCh38]
Chr6:73107943 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1167C>G (p.Arg389=) single nucleotide variant not provided [RCV001486978] Chr6:72182638 [GRCh38]
Chr6:72892341 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2394C>A (p.Thr798=) single nucleotide variant not provided [RCV001429001] Chr6:72250942 [GRCh38]
Chr6:72960645 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4731C>T (p.Val1577=) single nucleotide variant not provided [RCV001474482] Chr6:72398965 [GRCh38]
Chr6:73108667 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2082-17T>C single nucleotide variant not provided [RCV001475839] Chr6:72245798 [GRCh38]
Chr6:72955501 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3465G>C (p.Ala1155=) single nucleotide variant not provided [RCV001521739] Chr6:72274415 [GRCh38]
Chr6:72984118 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.4721-10C>T single nucleotide variant not provided [RCV001470742] Chr6:72398945 [GRCh38]
Chr6:73108647 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1957+13T>A single nucleotide variant not provided [RCV001504868] Chr6:72237935 [GRCh38]
Chr6:72947638 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.666A>T (p.Leu222=) single nucleotide variant not provided [RCV001403952] Chr6:72179769 [GRCh38]
Chr6:72889472 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4618+10A>T single nucleotide variant not provided [RCV001492005] Chr6:72392820 [GRCh38]
Chr6:73102522 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.13G>C (p.Val5Leu) single nucleotide variant not provided [RCV001493483] Chr6:71887036 [GRCh38]
Chr6:72596739 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1551C>T (p.His517=) single nucleotide variant not provided [RCV001398601] Chr6:72183022 [GRCh38]
Chr6:72892725 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4494C>T (p.Ser1498=) single nucleotide variant not provided [RCV001393748] Chr6:72390725 [GRCh38]
Chr6:73100427 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4371G>A (p.Ser1457=) single nucleotide variant not provided [RCV001474872] Chr6:72390602 [GRCh38]
Chr6:73100304 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1227C>T (p.Ala409=) single nucleotide variant not provided [RCV001464651] Chr6:72182698 [GRCh38]
Chr6:72892401 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.248G>A (p.Arg83Lys) single nucleotide variant not provided [RCV001419840] Chr6:72096951 [GRCh38]
Chr6:72806654 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2982T>C (p.His994=) single nucleotide variant not provided [RCV001403072] Chr6:72259040 [GRCh38]
Chr6:72968743 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2694A>G (p.Leu898=) single nucleotide variant not provided [RCV001412059] Chr6:72251364 [GRCh38]
Chr6:72961067 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.648G>T (p.Ser216=) single nucleotide variant not provided [RCV001407127] Chr6:72179751 [GRCh38]
Chr6:72889454 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.531A>G (p.Ala177=) single nucleotide variant not provided [RCV001437448] Chr6:72179634 [GRCh38]
Chr6:72889337 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4505+18G>A single nucleotide variant not provided [RCV001446478] Chr6:72390754 [GRCh38]
Chr6:73100456 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.87C>T (p.Thr29=) single nucleotide variant not provided [RCV001417300] Chr6:71887110 [GRCh38]
Chr6:72596813 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2727C>A (p.Ile909=) single nucleotide variant not provided [RCV001405252] Chr6:72252789 [GRCh38]
Chr6:72962492 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3777A>G (p.Ala1259=) single nucleotide variant not provided [RCV001393442] Chr6:72291973 [GRCh38]
Chr6:73001676 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1251C>A (p.Ala417=) single nucleotide variant not provided [RCV001441999] Chr6:72182722 [GRCh38]
Chr6:72892425 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1449C>T (p.Leu483=) single nucleotide variant not provided [RCV001447266] Chr6:72182920 [GRCh38]
Chr6:72892623 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1731A>G (p.Thr577=) single nucleotide variant not provided [RCV001437553] Chr6:72233825 [GRCh38]
Chr6:72943528 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2034A>G (p.Glu678=) single nucleotide variant not provided [RCV001445043] Chr6:72242390 [GRCh38]
Chr6:72952093 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1320C>A (p.Gly440=) single nucleotide variant not provided [RCV001444905] Chr6:72182791 [GRCh38]
Chr6:72892494 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4968C>T (p.Tyr1656=) single nucleotide variant not provided [RCV001398211] Chr6:72400603 [GRCh38]
Chr6:73110305 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1263G>T (p.Pro421=) single nucleotide variant not provided [RCV001403580] Chr6:72182734 [GRCh38]
Chr6:72892437 [GRCh37]
Chr6:6q13
likely benign
NC_000006.11:g.(?_72596727)_(74363609_?)del deletion Salla disease [RCV001384240] Chr6:72596727..74363609 [GRCh37]
Chr6:6q13
pathogenic
NM_014989.7(RIMS1):c.2214C>T (p.Ala738=) single nucleotide variant not provided [RCV001447758] Chr6:72248100 [GRCh38]
Chr6:72957803 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2290C>T (p.Leu764=) single nucleotide variant not provided [RCV001445576] Chr6:72250378 [GRCh38]
Chr6:72960081 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-18T>G single nucleotide variant not provided [RCV001418239] Chr6:72233755 [GRCh38]
Chr6:72943458 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3737+16C>T single nucleotide variant not provided [RCV001418259] Chr6:72290877 [GRCh38]
Chr6:73000580 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3730C>G (p.Leu1244Val) single nucleotide variant not provided [RCV001409351] Chr6:72290854 [GRCh38]
Chr6:73000557 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.812+93G>A single nucleotide variant not provided [RCV001538492] Chr6:72180008 [GRCh38]
Chr6:72889711 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.4047C>G (p.Ala1349=) single nucleotide variant not provided [RCV001450447] Chr6:72313589 [GRCh38]
Chr6:73023292 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.54C>A (p.Pro18=) single nucleotide variant not provided [RCV001489935] Chr6:71887077 [GRCh38]
Chr6:72596780 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1194C>G (p.Thr398=) single nucleotide variant not provided [RCV001461492] Chr6:72182665 [GRCh38]
Chr6:72892368 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4860+80_4860+81del microsatellite not provided [RCV001648814] Chr6:72399171..72399172 [GRCh38]
Chr6:73108873..73108874 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3959C>A (p.Ser1320Tyr) single nucleotide variant Retinal dystrophy [RCV004815535]|not provided [RCV001502769] Chr6:72307366 [GRCh38]
Chr6:73017069 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.246-11C>G single nucleotide variant not provided [RCV001486039] Chr6:72096938 [GRCh38]
Chr6:72806641 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3194+8C>A single nucleotide variant not provided [RCV001457660] Chr6:72265060 [GRCh38]
Chr6:72974763 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3308+84_3308+86del microsatellite not provided [RCV001717218] Chr6:72265584..72265586 [GRCh38]
Chr6:72975287..72975289 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1713G>A (p.Thr571=) single nucleotide variant not provided [RCV001458924] Chr6:72233807 [GRCh38]
Chr6:72943510 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2739G>A (p.Glu913=) single nucleotide variant not provided [RCV001455850] Chr6:72252801 [GRCh38]
Chr6:72962504 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4860+10_4860+13del deletion not provided [RCV001455985] Chr6:72399103..72399106 [GRCh38]
Chr6:73108805..73108808 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2698+13C>G single nucleotide variant not provided [RCV001504853] Chr6:72251381 [GRCh38]
Chr6:72961084 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3338G>C (p.Arg1113Thr) single nucleotide variant Retinitis pigmentosa [RCV001591839] Chr6:72265989 [GRCh38]
Chr6:72975692 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1287G>C (p.Ser429=) single nucleotide variant not provided [RCV001426770] Chr6:72182758 [GRCh38]
Chr6:72892461 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3116+8C>T single nucleotide variant not provided [RCV001462466] Chr6:72260775 [GRCh38]
Chr6:72970478 [GRCh37]
Chr6:6q13
likely benign|conflicting interpretations of pathogenicity
NM_014989.7(RIMS1):c.3423T>C (p.Asp1141=) single nucleotide variant not provided [RCV001466997] Chr6:72274373 [GRCh38]
Chr6:72984076 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.255T>C (p.His85=) single nucleotide variant not provided [RCV001484411] Chr6:72096958 [GRCh38]
Chr6:72806661 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1017G>C (p.Ala339=) single nucleotide variant not provided [RCV001484420] Chr6:72182488 [GRCh38]
Chr6:72892191 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2372+27del deletion not provided [RCV001523039] Chr6:72250478 [GRCh38]
Chr6:72960181 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.639A>G (p.Gln213=) single nucleotide variant not provided [RCV001506147] Chr6:72179742 [GRCh38]
Chr6:72889445 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4044C>T (p.Ser1348=) single nucleotide variant not provided [RCV001428916] Chr6:72313586 [GRCh38]
Chr6:73023289 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2372+27dup duplication not provided [RCV001516523] Chr6:72250477..72250478 [GRCh38]
Chr6:72960180..72960181 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3294T>C (p.Asp1098=) single nucleotide variant not provided [RCV001498649] Chr6:72265489 [GRCh38]
Chr6:72975192 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2868T>A (p.Pro956=) single nucleotide variant not provided [RCV001452652] Chr6:72258222 [GRCh38]
Chr6:72967925 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3834C>T (p.Ser1278=) single nucleotide variant not provided [RCV001502578] Chr6:72292030 [GRCh38]
Chr6:73001733 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.606T>G (p.Ser202=) single nucleotide variant not provided [RCV001417712] Chr6:72179709 [GRCh38]
Chr6:72889412 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4720+8G>A single nucleotide variant not provided [RCV001401784] Chr6:72398358 [GRCh38]
Chr6:73108060 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.33C>A (p.Arg11=) single nucleotide variant not provided [RCV001500887] Chr6:71887056 [GRCh38]
Chr6:72596759 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.708C>T (p.Ser236=) single nucleotide variant not provided [RCV001434815] Chr6:72179811 [GRCh38]
Chr6:72889514 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.801T>C (p.Pro267=) single nucleotide variant not provided [RCV001427680] Chr6:72179904 [GRCh38]
Chr6:72889607 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4959C>T (p.Ile1653=) single nucleotide variant not provided [RCV001418421] Chr6:72400594 [GRCh38]
Chr6:73110296 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1362T>C (p.His454=) single nucleotide variant not provided [RCV001512180] Chr6:72182833 [GRCh38]
Chr6:72892536 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.4821_4822delinsCT (p.Ser1607_Leu1608=) indel not provided [RCV001419126] Chr6:72399055..72399056 [GRCh38]
Chr6:73108757..73108758 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.906G>A (p.Glu302=) single nucleotide variant not provided [RCV001466938] Chr6:72182377 [GRCh38]
Chr6:72892080 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2771-11_2771-5dup duplication not provided [RCV001727362] Chr6:72258113..72258114 [GRCh38]
Chr6:72967816..72967817 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.471+97C>A single nucleotide variant not provided [RCV001753219] Chr6:72100083 [GRCh38]
Chr6:72809786 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1888C>T (p.Arg630Ter) single nucleotide variant Retinal dystrophy [RCV004816137] Chr6:72237853 [GRCh38]
Chr6:72947556 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2333G>A (p.Arg778Gln) single nucleotide variant Retinal dystrophy [RCV004818611] Chr6:72250421 [GRCh38]
Chr6:72960124 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1669A>C (p.Ser557Arg) single nucleotide variant not provided [RCV002044871] Chr6:72183140 [GRCh38]
Chr6:72892843 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4288C>T (p.Arg1430Trp) single nucleotide variant not provided [RCV001891159] Chr6:72333757 [GRCh38]
Chr6:73043460 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1240C>T (p.Pro414Ser) single nucleotide variant not provided [RCV001873855] Chr6:72182711 [GRCh38]
Chr6:72892414 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1259C>T (p.Ser420Leu) single nucleotide variant not provided [RCV001949827] Chr6:72182730 [GRCh38]
Chr6:72892433 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1432C>T (p.Pro478Ser) single nucleotide variant not provided [RCV001896400] Chr6:72182903 [GRCh38]
Chr6:72892606 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.245C>T (p.Pro82Leu) single nucleotide variant not provided [RCV001947672] Chr6:71969063 [GRCh38]
Chr6:72678766 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4097C>T (p.Ser1366Leu) single nucleotide variant not provided [RCV001874538] Chr6:72313639 [GRCh38]
Chr6:73023342 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1280C>T (p.Ala427Val) single nucleotide variant not provided [RCV001874900] Chr6:72182751 [GRCh38]
Chr6:72892454 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3089G>C (p.Arg1030Pro) single nucleotide variant not provided [RCV001945455] Chr6:72260740 [GRCh38]
Chr6:72970443 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.542G>A (p.Gly181Glu) single nucleotide variant not provided [RCV002044687] Chr6:72179645 [GRCh38]
Chr6:72889348 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5021G>A (p.Arg1674Gln) single nucleotide variant not provided [RCV001949884] Chr6:72400656 [GRCh38]
Chr6:73110358 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3461A>G (p.His1154Arg) single nucleotide variant not provided [RCV001914715] Chr6:72274411 [GRCh38]
Chr6:72984114 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1250C>A (p.Ala417Asp) single nucleotide variant not provided [RCV002023242] Chr6:72182721 [GRCh38]
Chr6:72892424 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4073G>A (p.Arg1358His) single nucleotide variant not provided [RCV001964753] Chr6:72313615 [GRCh38]
Chr6:73023318 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3737G>C (p.Arg1246Thr) single nucleotide variant not provided [RCV002044333] Chr6:72290861 [GRCh38]
Chr6:73000564 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3196T>C (p.Ser1066Pro) single nucleotide variant not provided [RCV002002832] Chr6:72265391 [GRCh38]
Chr6:72975094 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2407A>G (p.Lys803Glu) single nucleotide variant not provided [RCV001965169] Chr6:72250955 [GRCh38]
Chr6:72960658 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1795C>T (p.Arg599Cys) single nucleotide variant not provided [RCV001913043] Chr6:72235666 [GRCh38]
Chr6:72945369 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2870A>G (p.His957Arg) single nucleotide variant not provided [RCV001894453]|not specified [RCV004656686] Chr6:72258224 [GRCh38]
Chr6:72967927 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.941G>T (p.Arg314Leu) single nucleotide variant not provided [RCV001971475] Chr6:72182412 [GRCh38]
Chr6:72892115 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.709G>T (p.Ala237Ser) single nucleotide variant not provided [RCV002004607] Chr6:72179812 [GRCh38]
Chr6:72889515 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3272C>T (p.Ser1091Leu) single nucleotide variant not provided [RCV002007050] Chr6:72265467 [GRCh38]
Chr6:72975170 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2834G>A (p.Arg945Lys) single nucleotide variant not provided [RCV001986549]|not specified [RCV004045344] Chr6:72258188 [GRCh38]
Chr6:72967891 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2373-6T>C single nucleotide variant not provided [RCV001988229] Chr6:72250915 [GRCh38]
Chr6:72960618 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4782A>T (p.Arg1594Ser) single nucleotide variant not provided [RCV002045724] Chr6:72399016 [GRCh38]
Chr6:73108718 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2381G>A (p.Ser794Asn) single nucleotide variant not provided [RCV002041213] Chr6:72250929 [GRCh38]
Chr6:72960632 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1 copy number loss not provided [RCV001834215] Chr6:70165296..79920769 [GRCh37]
Chr6:6q13-14.1
pathogenic
NM_014989.7(RIMS1):c.3856T>A (p.Leu1286Ile) single nucleotide variant not provided [RCV001874468] Chr6:72307263 [GRCh38]
Chr6:73016966 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1 copy number loss not provided [RCV001829197] Chr6:72799054..83275894 [GRCh37]
Chr6:6q13-14.1
pathogenic
NM_014989.7(RIMS1):c.4188G>A (p.Met1396Ile) single nucleotide variant not provided [RCV001966047] Chr6:72333657 [GRCh38]
Chr6:73043360 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4526G>A (p.Arg1509Gln) single nucleotide variant not provided [RCV001968927] Chr6:72392718 [GRCh38]
Chr6:73102420 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.706A>G (p.Ser236Gly) single nucleotide variant not provided [RCV001968635]|not specified [RCV004671572] Chr6:72179809 [GRCh38]
Chr6:72889512 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3267T>G (p.Phe1089Leu) single nucleotide variant not provided [RCV001966212] Chr6:72265462 [GRCh38]
Chr6:72975165 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2928-8C>A single nucleotide variant not provided [RCV002039396] Chr6:72258978 [GRCh38]
Chr6:72968681 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3142T>G (p.Leu1048Val) single nucleotide variant not provided [RCV001969192] Chr6:72265000 [GRCh38]
Chr6:72974703 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3700C>T (p.Pro1234Ser) single nucleotide variant not provided [RCV001872106] Chr6:72290824 [GRCh38]
Chr6:73000527 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1256_1267dup (p.Ala419_Pro422dup) duplication not provided [RCV001945401] Chr6:72182724..72182725 [GRCh38]
Chr6:72892427..72892428 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4389A>C (p.Lys1463Asn) single nucleotide variant not provided [RCV001908111] Chr6:72390620 [GRCh38]
Chr6:73100322 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3173G>A (p.Ser1058Asn) single nucleotide variant not provided [RCV002020749] Chr6:72265031 [GRCh38]
Chr6:72974734 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1
pathogenic
NM_014989.7(RIMS1):c.3122T>C (p.Leu1041Pro) single nucleotide variant not provided [RCV001945753]|not specified [RCV004044181] Chr6:72264980 [GRCh38]
Chr6:72974683 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3791G>A (p.Ser1264Asn) single nucleotide variant not provided [RCV002042464] Chr6:72291987 [GRCh38]
Chr6:73001690 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.898_899delinsTG (p.Pro300Cys) indel not provided [RCV002039262] Chr6:72182369..72182370 [GRCh38]
Chr6:72892072..72892073 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1045G>A (p.Glu349Lys) single nucleotide variant not provided [RCV002041030] Chr6:72182516 [GRCh38]
Chr6:72892219 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2114C>G (p.Pro705Arg) single nucleotide variant not provided [RCV001891994] Chr6:72245847 [GRCh38]
Chr6:72955550 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1994C>T (p.Pro665Leu) single nucleotide variant not provided [RCV002022670] Chr6:72242350 [GRCh38]
Chr6:72952053 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4412A>G (p.Glu1471Gly) single nucleotide variant not provided [RCV001911445] Chr6:72390643 [GRCh38]
Chr6:73100345 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2902C>T (p.Arg968Cys) single nucleotide variant not provided [RCV001967136] Chr6:72258256 [GRCh38]
Chr6:72967959 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4999C>A (p.Pro1667Thr) single nucleotide variant not provided [RCV002043464] Chr6:72400634 [GRCh38]
Chr6:73110336 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2822C>T (p.Pro941Leu) single nucleotide variant not provided [RCV001986933] Chr6:72258176 [GRCh38]
Chr6:72967879 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1687G>A (p.Asp563Asn) single nucleotide variant not provided [RCV001872934] Chr6:72233781 [GRCh38]
Chr6:72943484 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3053+6T>A single nucleotide variant not provided [RCV002024405] Chr6:72259117 [GRCh38]
Chr6:72968820 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3902G>A (p.Arg1301Gln) single nucleotide variant not provided [RCV001966283] Chr6:72307309 [GRCh38]
Chr6:73017012 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1241C>T (p.Pro414Leu) single nucleotide variant not provided [RCV002020656] Chr6:72182712 [GRCh38]
Chr6:72892415 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4007C>G (p.Ser1336Cys) single nucleotide variant not provided [RCV001895592] Chr6:72313549 [GRCh38]
Chr6:73023252 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4111C>G (p.Arg1371Gly) single nucleotide variant not provided [RCV002020627] Chr6:72313653 [GRCh38]
Chr6:73023356 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3737+4G>A single nucleotide variant not provided [RCV001891641] Chr6:72290865 [GRCh38]
Chr6:73000568 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1513C>T (p.Gln505Ter) single nucleotide variant not provided [RCV001892893] Chr6:72182984 [GRCh38]
Chr6:72892687 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3497C>A (p.Ser1166Tyr) single nucleotide variant not provided [RCV001892623] Chr6:72284061 [GRCh38]
Chr6:72993764 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2354A>T (p.Tyr785Phe) single nucleotide variant not provided [RCV001890068] Chr6:72250442 [GRCh38]
Chr6:72960145 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.497G>T (p.Arg166Leu) single nucleotide variant not provided [RCV001983946] Chr6:72179600 [GRCh38]
Chr6:72889303 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1305G>C (p.Glu435Asp) single nucleotide variant not provided [RCV002042543] Chr6:72182776 [GRCh38]
Chr6:72892479 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4158A>T (p.Arg1386Ser) single nucleotide variant not provided [RCV002003095] Chr6:72333627 [GRCh38]
Chr6:73043330 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.724A>G (p.Ser242Gly) single nucleotide variant not provided [RCV001947462] Chr6:72179827 [GRCh38]
Chr6:72889530 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2701T>G (p.Ser901Ala) single nucleotide variant not provided [RCV002039633]|not specified [RCV004656671] Chr6:72252763 [GRCh38]
Chr6:72962466 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2957G>A (p.Arg986Lys) single nucleotide variant not provided [RCV001928099] Chr6:72259015 [GRCh38]
Chr6:72968718 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3515A>G (p.Gln1172Arg) single nucleotide variant not provided [RCV001873122] Chr6:72284079 [GRCh38]
Chr6:72993782 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.752C>A (p.Ala251Asp) single nucleotide variant not provided [RCV002008082] Chr6:72179855 [GRCh38]
Chr6:72889558 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1664G>C (p.Ser555Thr) single nucleotide variant not provided [RCV002039615] Chr6:72183135 [GRCh38]
Chr6:72892838 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2532A>T (p.Glu844Asp) single nucleotide variant not provided [RCV001890631] Chr6:72251080 [GRCh38]
Chr6:72960783 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.337G>A (p.Ala113Thr) single nucleotide variant not provided [RCV001947663] Chr6:72097040 [GRCh38]
Chr6:72806743 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1187C>T (p.Pro396Leu) single nucleotide variant not provided [RCV001890801] Chr6:72182658 [GRCh38]
Chr6:72892361 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3410C>T (p.Ser1137Phe) single nucleotide variant not provided [RCV001927053] Chr6:72274360 [GRCh38]
Chr6:72984063 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3746G>A (p.Arg1249Gln) single nucleotide variant not provided [RCV002023757] Chr6:72291942 [GRCh38]
Chr6:73001645 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.110T>C (p.Met37Thr) single nucleotide variant not provided [RCV001964139] Chr6:71887133 [GRCh38]
Chr6:72596836 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4947_4948delinsAC (p.Ser1650Arg) indel not provided [RCV001968515] Chr6:72400582..72400583 [GRCh38]
Chr6:73110284..73110285 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.231_232delinsTT (p.His78Tyr) indel not provided [RCV001893937] Chr6:71969049..71969050 [GRCh38]
Chr6:72678752..72678753 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr) single nucleotide variant Cone-rod dystrophy 7 [RCV002286434]|not provided [RCV002004604]|not specified [RCV004043920] Chr6:72242380 [GRCh38]
Chr6:72952083 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.165-3del deletion not provided [RCV001908986] Chr6:71968977 [GRCh38]
Chr6:72678680 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3335C>T (p.Ala1112Val) single nucleotide variant not provided [RCV001965361] Chr6:72265986 [GRCh38]
Chr6:72975689 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3277G>A (p.Val1093Ile) single nucleotide variant not provided [RCV002002840] Chr6:72265472 [GRCh38]
Chr6:72975175 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4088G>A (p.Ser1363Asn) single nucleotide variant not provided [RCV001870745] Chr6:72313630 [GRCh38]
Chr6:73023333 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.197C>A (p.Ala66Asp) single nucleotide variant not provided [RCV001980362] Chr6:71969015 [GRCh38]
Chr6:72678718 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4039G>A (p.Val1347Ile) single nucleotide variant not provided [RCV001963319] Chr6:72313581 [GRCh38]
Chr6:73023284 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1213C>G (p.Pro405Ala) single nucleotide variant not provided [RCV002017649] Chr6:72182684 [GRCh38]
Chr6:72892387 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1723C>G (p.Arg575Gly) single nucleotide variant not provided [RCV001944539] Chr6:72233817 [GRCh38]
Chr6:72943520 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4054C>T (p.Arg1352Ter) single nucleotide variant not provided [RCV001942375] Chr6:72313596 [GRCh38]
Chr6:73023299 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3619A>G (p.Ile1207Val) single nucleotide variant not provided [RCV001916761]|not specified [RCV004671529] Chr6:72290743 [GRCh38]
Chr6:73000446 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1531C>A (p.Pro511Thr) single nucleotide variant not provided [RCV002019560] Chr6:72183002 [GRCh38]
Chr6:72892705 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.568G>C (p.Asp190His) single nucleotide variant not provided [RCV001961985] Chr6:72179671 [GRCh38]
Chr6:72889374 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3511A>C (p.Ile1171Leu) single nucleotide variant not provided [RCV002019644] Chr6:72284075 [GRCh38]
Chr6:72993778 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4492A>G (p.Ser1498Gly) single nucleotide variant not provided [RCV001888637] Chr6:72390723 [GRCh38]
Chr6:73100425 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1360C>G (p.His454Asp) single nucleotide variant not provided [RCV001941084]|not specified [RCV004042041] Chr6:72182831 [GRCh38]
Chr6:72892534 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2873G>A (p.Arg958His) single nucleotide variant not provided [RCV002045872] Chr6:72258227 [GRCh38]
Chr6:72967930 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1439C>G (p.Ser480Trp) single nucleotide variant not provided [RCV002000546] Chr6:72182910 [GRCh38]
Chr6:72892613 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.646T>A (p.Ser216Thr) single nucleotide variant not provided [RCV001924579] Chr6:72179749 [GRCh38]
Chr6:72889452 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3145C>T (p.Pro1049Ser) single nucleotide variant not provided [RCV002038270] Chr6:72265003 [GRCh38]
Chr6:72974706 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4261G>C (p.Gly1421Arg) single nucleotide variant not provided [RCV002015053] Chr6:72333730 [GRCh38]
Chr6:73043433 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4013A>G (p.Lys1338Arg) single nucleotide variant not provided [RCV001924911] Chr6:72313555 [GRCh38]
Chr6:73023258 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2918C>T (p.Pro973Leu) single nucleotide variant not provided [RCV001962182] Chr6:72258272 [GRCh38]
Chr6:72967975 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.477G>A (p.Met159Ile) single nucleotide variant not provided [RCV002000637]|not specified [RCV004042463] Chr6:72179580 [GRCh38]
Chr6:72889283 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2657G>A (p.Arg886Lys) single nucleotide variant not provided [RCV002017512] Chr6:72251327 [GRCh38]
Chr6:72961030 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.923G>C (p.Arg308Pro) single nucleotide variant not provided [RCV001897405] Chr6:72182394 [GRCh38]
Chr6:72892097 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV002049065] Chr6:71969002 [GRCh38]
Chr6:72678705 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1324A>C (p.Lys442Gln) single nucleotide variant not provided [RCV001956898]|not specified [RCV004044522] Chr6:72182795 [GRCh38]
Chr6:72892498 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.949C>G (p.Arg317Gly) single nucleotide variant not provided [RCV002000704] Chr6:72182420 [GRCh38]
Chr6:72892123 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2194C>T (p.Pro732Ser) single nucleotide variant not provided [RCV001961734] Chr6:72248080 [GRCh38]
Chr6:72957783 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2763TCC[3] (p.Pro923dup) microsatellite not provided [RCV001888402] Chr6:72252824..72252825 [GRCh38]
Chr6:72962527..72962528 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.13G>A (p.Val5Met) single nucleotide variant not provided [RCV002019751] Chr6:71887036 [GRCh38]
Chr6:72596739 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3580A>G (p.Arg1194Gly) single nucleotide variant not provided [RCV001897800] Chr6:72290704 [GRCh38]
Chr6:73000407 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3872G>A (p.Arg1291Gln) single nucleotide variant not provided [RCV001955691] Chr6:72307279 [GRCh38]
Chr6:73016982 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5005C>T (p.Leu1669Phe) single nucleotide variant not provided [RCV002011617] Chr6:72400640 [GRCh38]
Chr6:73110342 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.527G>A (p.Gly176Glu) single nucleotide variant not provided [RCV001953080]|not specified [RCV004043195] Chr6:72179630 [GRCh38]
Chr6:72889333 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2051A>G (p.Gln684Arg) single nucleotide variant not provided [RCV001867327] Chr6:72242407 [GRCh38]
Chr6:72952110 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3826G>C (p.Val1276Leu) single nucleotide variant not provided [RCV001991143] Chr6:72292022 [GRCh38]
Chr6:73001725 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1771A>G (p.Lys591Glu) single nucleotide variant not provided [RCV001991150] Chr6:72235642 [GRCh38]
Chr6:72945345 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5072G>A (p.Arg1691Gln) single nucleotide variant not provided [RCV001993935] Chr6:72400707 [GRCh38]
Chr6:73110409 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2592G>T (p.Trp864Cys) single nucleotide variant not provided [RCV002031034] Chr6:72251262 [GRCh38]
Chr6:72960965 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3116+3A>G single nucleotide variant not provided [RCV002011837] Chr6:72260770 [GRCh38]
Chr6:72970473 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2086A>C (p.Ile696Leu) single nucleotide variant not provided [RCV001902601] Chr6:72245819 [GRCh38]
Chr6:72955522 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.868C>G (p.Arg290Gly) single nucleotide variant not provided [RCV001957742] Chr6:72182339 [GRCh38]
Chr6:72892042 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.179A>T (p.Asp60Val) single nucleotide variant not provided [RCV001973054] Chr6:71968997 [GRCh38]
Chr6:72678700 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3767C>T (p.Ser1256Phe) single nucleotide variant not provided [RCV001977042] Chr6:72291963 [GRCh38]
Chr6:73001666 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2399C>T (p.Thr800Ile) single nucleotide variant not provided [RCV001921981] Chr6:72250947 [GRCh38]
Chr6:72960650 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3464C>A (p.Ala1155Glu) single nucleotide variant not provided [RCV001864875] Chr6:72274414 [GRCh38]
Chr6:72984117 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4798C>T (p.Leu1600Phe) single nucleotide variant not provided [RCV002028914] Chr6:72399032 [GRCh38]
Chr6:73108734 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1408C>T (p.Leu470Phe) single nucleotide variant not provided [RCV001974777] Chr6:72182879 [GRCh38]
Chr6:72892582 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1038A>C (p.Arg346Ser) single nucleotide variant not provided [RCV002012398]|not specified [RCV004045369] Chr6:72182509 [GRCh38]
Chr6:72892212 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1481C>A (p.Thr494Asn) single nucleotide variant not provided [RCV001880808] Chr6:72182952 [GRCh38]
Chr6:72892655 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.144A>T (p.Glu48Asp) single nucleotide variant not provided [RCV002033262] Chr6:71887167 [GRCh38]
Chr6:72596870 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1244C>T (p.Ala415Val) single nucleotide variant not provided [RCV001917673] Chr6:72182715 [GRCh38]
Chr6:72892418 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4160G>A (p.Arg1387Gln) single nucleotide variant not provided [RCV002018812] Chr6:72333629 [GRCh38]
Chr6:73043332 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.632G>A (p.Arg211Gln) single nucleotide variant not provided [RCV001951797] Chr6:72179735 [GRCh38]
Chr6:72889438 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3308+20A>G single nucleotide variant not provided [RCV001974066] Chr6:72265523 [GRCh38]
Chr6:72975226 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3948C>T (p.Arg1316=) single nucleotide variant not provided [RCV001974073] Chr6:72307355 [GRCh38]
Chr6:73017058 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3949G>A (p.Glu1317Lys) single nucleotide variant not provided [RCV001931152]|not specified [RCV004044005] Chr6:72307356 [GRCh38]
Chr6:73017059 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.32G>A (p.Arg11His) single nucleotide variant not provided [RCV001916568] Chr6:71887055 [GRCh38]
Chr6:72596758 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2797A>G (p.Ser933Gly) single nucleotide variant not provided [RCV002046921] Chr6:72258151 [GRCh38]
Chr6:72967854 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.164A>G (p.Lys55Arg) single nucleotide variant not provided [RCV001951933] Chr6:71887187 [GRCh38]
Chr6:72596890 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.904G>A (p.Glu302Lys) single nucleotide variant not provided [RCV001989970] Chr6:72182375 [GRCh38]
Chr6:72892078 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1745C>T (p.Ser582Leu) single nucleotide variant not provided [RCV001939791] Chr6:72233839 [GRCh38]
Chr6:72943542 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2544+18A>G single nucleotide variant not provided [RCV002051063] Chr6:72251110 [GRCh38]
Chr6:72960813 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3640C>T (p.Arg1214Cys) single nucleotide variant not provided [RCV001925805] Chr6:72290764 [GRCh38]
Chr6:73000467 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_72889258)_(73023395_?)del deletion not provided [RCV002012065] Chr6:72889258..73023395 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4295C>A (p.Ser1432Tyr) single nucleotide variant not provided [RCV001919534] Chr6:72333764 [GRCh38]
Chr6:73043467 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2627C>G (p.Pro876Arg) single nucleotide variant not provided [RCV001904762] Chr6:72251297 [GRCh38]
Chr6:72961000 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.948C>G (p.Ser316Arg) single nucleotide variant not provided [RCV002012105] Chr6:72182419 [GRCh38]
Chr6:72892122 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3179A>C (p.His1060Pro) single nucleotide variant not provided [RCV002033273] Chr6:72265037 [GRCh38]
Chr6:72974740 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.865G>A (p.Glu289Lys) single nucleotide variant not provided [RCV002031388] Chr6:72182336 [GRCh38]
Chr6:72892039 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1100A>C (p.Lys367Thr) single nucleotide variant not provided [RCV001934580] Chr6:72182571 [GRCh38]
Chr6:72892274 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3203T>C (p.Leu1068Pro) single nucleotide variant not provided [RCV001934591] Chr6:72265398 [GRCh38]
Chr6:72975101 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1213C>T (p.Pro405Ser) single nucleotide variant not provided [RCV001982148] Chr6:72182684 [GRCh38]
Chr6:72892387 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1487T>C (p.Leu496Pro) single nucleotide variant not provided [RCV001998649] Chr6:72182958 [GRCh38]
Chr6:72892661 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.223A>C (p.Asn75His) single nucleotide variant not provided [RCV001938307]|not specified [RCV004043576] Chr6:71969041 [GRCh38]
Chr6:72678744 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1590G>A (p.Val530=) single nucleotide variant not provided [RCV001954183] Chr6:72183061 [GRCh38]
Chr6:72892764 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.835G>C (p.Glu279Gln) single nucleotide variant not provided [RCV001938373] Chr6:72182306 [GRCh38]
Chr6:72892009 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3680G>A (p.Cys1227Tyr) single nucleotide variant not provided [RCV001980192]|not specified [RCV004043884] Chr6:72290804 [GRCh38]
Chr6:73000507 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1507T>C (p.Ser503Pro) single nucleotide variant not provided [RCV001997676] Chr6:72182978 [GRCh38]
Chr6:72892681 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2092C>T (p.Arg698Trp) single nucleotide variant not provided [RCV002017375] Chr6:72245825 [GRCh38]
Chr6:72955528 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1729A>G (p.Thr577Ala) single nucleotide variant not provided [RCV001940002] Chr6:72233823 [GRCh38]
Chr6:72943526 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4160G>T (p.Arg1387Leu) single nucleotide variant not provided [RCV001940424] Chr6:72333629 [GRCh38]
Chr6:73043332 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4598C>T (p.Thr1533Ile) single nucleotide variant not provided [RCV001973836] Chr6:72392790 [GRCh38]
Chr6:73102492 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1385C>G (p.Pro462Arg) single nucleotide variant not provided [RCV002045996] Chr6:72182856 [GRCh38]
Chr6:72892559 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2258A>T (p.Asp753Val) single nucleotide variant not provided [RCV002049658] Chr6:72250346 [GRCh38]
Chr6:72960049 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1678+13C>T single nucleotide variant not provided [RCV001878367] Chr6:72183162 [GRCh38]
Chr6:72892865 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.976G>A (p.Asp326Asn) single nucleotide variant not provided [RCV001879175] Chr6:72182447 [GRCh38]
Chr6:72892150 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4027G>A (p.Asp1343Asn) single nucleotide variant not provided [RCV002030696] Chr6:72313569 [GRCh38]
Chr6:73023272 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3464C>T (p.Ala1155Val) single nucleotide variant not provided [RCV002026481]|not specified [RCV004046794] Chr6:72274414 [GRCh38]
Chr6:72984117 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1681G>A (p.Asp561Asn) single nucleotide variant not provided [RCV002010820] Chr6:72233775 [GRCh38]
Chr6:72943478 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4400A>G (p.Gln1467Arg) single nucleotide variant not provided [RCV001991972] Chr6:72390631 [GRCh38]
Chr6:73100333 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.813-3T>C single nucleotide variant not provided [RCV001996368] Chr6:72182281 [GRCh38]
Chr6:72891984 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3002T>C (p.Val1001Ala) single nucleotide variant not provided [RCV001996192] Chr6:72259060 [GRCh38]
Chr6:72968763 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3697G>T (p.Val1233Phe) single nucleotide variant not provided [RCV002014588] Chr6:72290821 [GRCh38]
Chr6:73000524 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1541C>G (p.Pro514Arg) single nucleotide variant not provided [RCV002028387]|not specified [RCV004045481] Chr6:72183012 [GRCh38]
Chr6:72892715 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.908G>C (p.Gly303Ala) single nucleotide variant not provided [RCV001975384] Chr6:72182379 [GRCh38]
Chr6:72892082 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.612A>G (p.Val204=) single nucleotide variant not provided [RCV002166169] Chr6:72179715 [GRCh38]
Chr6:72889418 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2340C>A (p.Pro780=) single nucleotide variant not provided [RCV002109906] Chr6:72250428 [GRCh38]
Chr6:72960131 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2770+8G>T single nucleotide variant not provided [RCV002167890] Chr6:72252840 [GRCh38]
Chr6:72962543 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4130+16T>A single nucleotide variant not provided [RCV002186460] Chr6:72313688 [GRCh38]
Chr6:73023391 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.812+10C>G single nucleotide variant not provided [RCV002187780] Chr6:72179925 [GRCh38]
Chr6:72889628 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2751T>C (p.Gly917=) single nucleotide variant not provided [RCV002189681] Chr6:72252813 [GRCh38]
Chr6:72962516 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3850+19T>A single nucleotide variant not provided [RCV002109286] Chr6:72292065 [GRCh38]
Chr6:73001768 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4416A>G (p.Thr1472=) single nucleotide variant not provided [RCV002086186] Chr6:72390647 [GRCh38]
Chr6:73100349 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1678+16C>T single nucleotide variant not provided [RCV002090596] Chr6:72183165 [GRCh38]
Chr6:72892868 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2373-16C>T single nucleotide variant not provided [RCV002169172] Chr6:72250905 [GRCh38]
Chr6:72960608 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3737+14G>C single nucleotide variant not provided [RCV002206114] Chr6:72290875 [GRCh38]
Chr6:73000578 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1104G>A (p.Pro368=) single nucleotide variant not provided [RCV002206171] Chr6:72182575 [GRCh38]
Chr6:72892278 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3308+14G>C single nucleotide variant not provided [RCV002091739] Chr6:72265517 [GRCh38]
Chr6:72975220 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3162A>G (p.Leu1054=) single nucleotide variant not provided [RCV002147660] Chr6:72265020 [GRCh38]
Chr6:72974723 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3482+18C>T single nucleotide variant not provided [RCV002192842] Chr6:72274450 [GRCh38]
Chr6:72984153 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.165-13T>A single nucleotide variant not provided [RCV002149120] Chr6:71968970 [GRCh38]
Chr6:72678673 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3555-8T>C single nucleotide variant not provided [RCV002209719] Chr6:72290671 [GRCh38]
Chr6:73000374 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1902C>T (p.Phe634=) single nucleotide variant not provided [RCV002126823] Chr6:72237867 [GRCh38]
Chr6:72947570 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1958-10dup duplication not provided [RCV002190930] Chr6:72242296..72242297 [GRCh38]
Chr6:72951999..72952000 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.4618+19_4618+20del deletion not provided [RCV002124762] Chr6:72392821..72392822 [GRCh38]
Chr6:73102523..73102524 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1137C>G (p.Ala379=) single nucleotide variant not provided [RCV002168114] Chr6:72182608 [GRCh38]
Chr6:72892311 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3194+17T>C single nucleotide variant not provided [RCV002148970] Chr6:72265069 [GRCh38]
Chr6:72974772 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4008T>C (p.Ser1336=) single nucleotide variant not provided [RCV002147680] Chr6:72313550 [GRCh38]
Chr6:73023253 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4101G>A (p.Glu1367=) single nucleotide variant not provided [RCV002072457] Chr6:72313643 [GRCh38]
Chr6:73023346 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3525T>C (p.Thr1175=) single nucleotide variant not provided [RCV002087788] Chr6:72284089 [GRCh38]
Chr6:72993792 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4581G>A (p.Gln1527=) single nucleotide variant not provided [RCV002125163] Chr6:72392773 [GRCh38]
Chr6:73102475 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4359T>C (p.Ser1453=) single nucleotide variant not provided [RCV002148314] Chr6:72333828 [GRCh38]
Chr6:73043531 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.471+18C>A single nucleotide variant not provided [RCV002086851] Chr6:72100004 [GRCh38]
Chr6:72809707 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4860+16T>C single nucleotide variant not provided [RCV002088392] Chr6:72399110 [GRCh38]
Chr6:73108812 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.812+13T>A single nucleotide variant not provided [RCV002168860] Chr6:72179928 [GRCh38]
Chr6:72889631 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3363A>G (p.Arg1121=) single nucleotide variant not provided [RCV002085043] Chr6:72266014 [GRCh38]
Chr6:72975717 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3003T>C (p.Val1001=) single nucleotide variant not provided [RCV002188768] Chr6:72259061 [GRCh38]
Chr6:72968764 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3168G>A (p.Gln1056=) single nucleotide variant not provided [RCV002146477] Chr6:72265026 [GRCh38]
Chr6:72974729 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2088T>A (p.Ile696=) single nucleotide variant not provided [RCV002186040] Chr6:72245821 [GRCh38]
Chr6:72955524 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1107G>A (p.Pro369=) single nucleotide variant not provided [RCV002167006] Chr6:72182578 [GRCh38]
Chr6:72892281 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1858-20A>T single nucleotide variant not provided [RCV002196664] Chr6:72237803 [GRCh38]
Chr6:72947506 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1678+7G>C single nucleotide variant not provided [RCV002116463] Chr6:72183156 [GRCh38]
Chr6:72892859 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.567G>A (p.Gln189=) single nucleotide variant not provided [RCV002193275] Chr6:72179670 [GRCh38]
Chr6:72889373 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2242-11A>G single nucleotide variant not provided [RCV002173833] Chr6:72250319 [GRCh38]
Chr6:72960022 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3531A>G (p.Lys1177=) single nucleotide variant not provided [RCV002193403] Chr6:72284095 [GRCh38]
Chr6:72993798 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1335G>A (p.Thr445=) single nucleotide variant not provided [RCV002193514] Chr6:72182806 [GRCh38]
Chr6:72892509 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1386G>T (p.Pro462=) single nucleotide variant not provided [RCV002194852] Chr6:72182857 [GRCh38]
Chr6:72892560 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1353G>A (p.Ala451=) single nucleotide variant not provided [RCV002132738] Chr6:72182824 [GRCh38]
Chr6:72892527 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.460-19C>T single nucleotide variant not provided [RCV002148306] Chr6:72099956 [GRCh38]
Chr6:72809659 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1317G>A (p.Pro439=) single nucleotide variant not provided [RCV002134635] Chr6:72182788 [GRCh38]
Chr6:72892491 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3330C>T (p.Asp1110=) single nucleotide variant not provided [RCV002149421] Chr6:72265981 [GRCh38]
Chr6:72975684 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4710A>G (p.Lys1570=) single nucleotide variant not provided [RCV002195243] Chr6:72398340 [GRCh38]
Chr6:73108042 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.164+19C>T single nucleotide variant not provided [RCV002171571] Chr6:71887206 [GRCh38]
Chr6:72596909 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-6G>C single nucleotide variant not provided [RCV002185457] Chr6:72233767 [GRCh38]
Chr6:72943470 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3663T>C (p.Ser1221=) single nucleotide variant not provided [RCV002150482] Chr6:72290787 [GRCh38]
Chr6:73000490 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4590C>A (p.Gly1530=) single nucleotide variant not provided [RCV002116287] Chr6:72392782 [GRCh38]
Chr6:73102484 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3960C>T (p.Ser1320=) single nucleotide variant not provided [RCV002150714] Chr6:72307367 [GRCh38]
Chr6:73017070 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3072C>A (p.Pro1024=) single nucleotide variant not provided [RCV002185910] Chr6:72260723 [GRCh38]
Chr6:72970426 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2859A>G (p.Ser953=) single nucleotide variant not provided [RCV002168192] Chr6:72258213 [GRCh38]
Chr6:72967916 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2082-16A>G single nucleotide variant not provided [RCV002186172] Chr6:72245799 [GRCh38]
Chr6:72955502 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1194C>T (p.Thr398=) single nucleotide variant not provided [RCV002132587] Chr6:72182665 [GRCh38]
Chr6:72892368 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3117-15G>A single nucleotide variant not provided [RCV002172099] Chr6:72264960 [GRCh38]
Chr6:72974663 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3714G>T (p.Ala1238=) single nucleotide variant not provided [RCV002170726] Chr6:72290838 [GRCh38]
Chr6:73000541 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3483-7T>C single nucleotide variant not provided [RCV002149011] Chr6:72284040 [GRCh38]
Chr6:72993743 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1353G>T (p.Ala451=) single nucleotide variant not provided [RCV002153475] Chr6:72182824 [GRCh38]
Chr6:72892527 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.812+16C>T single nucleotide variant not provided [RCV002153480] Chr6:72179931 [GRCh38]
Chr6:72889634 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1747-19C>T single nucleotide variant not provided [RCV002072677] Chr6:72235599 [GRCh38]
Chr6:72945302 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3392G>A (p.Arg1131Gln) single nucleotide variant not provided [RCV002131488]|not specified [RCV004046595] Chr6:72266043 [GRCh38]
Chr6:72975746 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.471+8T>G single nucleotide variant not provided [RCV002092729] Chr6:72099994 [GRCh38]
Chr6:72809697 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1524G>A (p.Ser508=) single nucleotide variant not provided [RCV002212663] Chr6:72182995 [GRCh38]
Chr6:72892698 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4367-5G>C single nucleotide variant not provided [RCV002096162] Chr6:72390593 [GRCh38]
Chr6:73100295 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1958-18C>T single nucleotide variant not provided [RCV002215493] Chr6:72242296 [GRCh38]
Chr6:72951999 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3798C>G (p.Arg1266=) single nucleotide variant not provided [RCV002134496] Chr6:72291994 [GRCh38]
Chr6:73001697 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4366+14A>T single nucleotide variant not provided [RCV002149493] Chr6:72333849 [GRCh38]
Chr6:73043552 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4773G>A (p.Lys1591=) single nucleotide variant not provided [RCV002080390] Chr6:72399007 [GRCh38]
Chr6:73108709 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.164+18G>A single nucleotide variant not provided [RCV002193412] Chr6:71887205 [GRCh38]
Chr6:72596908 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2859A>C (p.Ser953=) single nucleotide variant not provided [RCV002134639] Chr6:72258213 [GRCh38]
Chr6:72967916 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2241+7A>T single nucleotide variant not provided [RCV002107384] Chr6:72248134 [GRCh38]
Chr6:72957837 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2241+8_2241+16del deletion not provided [RCV002192344] Chr6:72248131..72248139 [GRCh38]
Chr6:72957834..72957842 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.738G>A (p.Glu246=) single nucleotide variant not provided [RCV002131232] Chr6:72179841 [GRCh38]
Chr6:72889544 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1548G>A (p.Pro516=) single nucleotide variant not provided [RCV002131310] Chr6:72183019 [GRCh38]
Chr6:72892722 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.723G>A (p.Arg241=) single nucleotide variant not provided [RCV002114340] Chr6:72179826 [GRCh38]
Chr6:72889529 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2129-20A>C single nucleotide variant not provided [RCV002114992] Chr6:72247995 [GRCh38]
Chr6:72957698 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2928-13G>T single nucleotide variant not provided [RCV002171625] Chr6:72258973 [GRCh38]
Chr6:72968676 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2343T>C (p.Tyr781=) single nucleotide variant not provided [RCV002218002] Chr6:72250431 [GRCh38]
Chr6:72960134 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4428T>C (p.Ala1476=) single nucleotide variant not provided [RCV002155717] Chr6:72390659 [GRCh38]
Chr6:73100361 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1734A>G (p.Ser578=) single nucleotide variant not provided [RCV002157345] Chr6:72233828 [GRCh38]
Chr6:72943531 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2770+12A>G single nucleotide variant not provided [RCV002216625] Chr6:72252844 [GRCh38]
Chr6:72962547 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.164+15G>T single nucleotide variant not provided [RCV002156147] Chr6:71887202 [GRCh38]
Chr6:72596905 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.732G>A (p.Gly244=) single nucleotide variant not provided [RCV002156148] Chr6:72179835 [GRCh38]
Chr6:72889538 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.813-7A>G single nucleotide variant not provided [RCV002177369] Chr6:72182277 [GRCh38]
Chr6:72891980 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.69C>G (p.Pro23=) single nucleotide variant not provided [RCV002139681] Chr6:71887092 [GRCh38]
Chr6:72596795 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3116+12G>A single nucleotide variant not provided [RCV002138006] Chr6:72260779 [GRCh38]
Chr6:72970482 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1326G>A (p.Lys442=) single nucleotide variant not provided [RCV002179761] Chr6:72182797 [GRCh38]
Chr6:72892500 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.186G>A (p.Ala62=) single nucleotide variant not provided [RCV002202615] Chr6:71969004 [GRCh38]
Chr6:72678707 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1308C>G (p.Thr436=) single nucleotide variant not provided [RCV002082328] Chr6:72182779 [GRCh38]
Chr6:72892482 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2988C>T (p.Ala996=) single nucleotide variant not provided [RCV002176372] Chr6:72259046 [GRCh38]
Chr6:72968749 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2373-13A>G single nucleotide variant not provided [RCV002180517] Chr6:72250908 [GRCh38]
Chr6:72960611 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.447A>G (p.Leu149=) single nucleotide variant not provided [RCV002144286] Chr6:72097150 [GRCh38]
Chr6:72806853 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4525C>A (p.Arg1509=) single nucleotide variant not provided [RCV002144320] Chr6:72392717 [GRCh38]
Chr6:73102419 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.164+14A>G single nucleotide variant not provided [RCV002140787] Chr6:71887201 [GRCh38]
Chr6:72596904 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3399-8G>A single nucleotide variant not provided [RCV002140926] Chr6:72274341 [GRCh38]
Chr6:72984044 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.460-17T>C single nucleotide variant not provided [RCV002220379] Chr6:72099958 [GRCh38]
Chr6:72809661 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1958-18del deletion not provided [RCV002182925] Chr6:72242294 [GRCh38]
Chr6:72951997 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3737+17C>G single nucleotide variant not provided [RCV002163289] Chr6:72290878 [GRCh38]
Chr6:73000581 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.744G>A (p.Ser248=) single nucleotide variant not provided [RCV002163497] Chr6:72179847 [GRCh38]
Chr6:72889550 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1821C>G (p.Thr607=) single nucleotide variant not provided [RCV002158440] Chr6:72235692 [GRCh38]
Chr6:72945395 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4367-20C>A single nucleotide variant not provided [RCV002158441] Chr6:72390578 [GRCh38]
Chr6:73100280 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4524G>T (p.Val1508=) single nucleotide variant not provided [RCV002162348] Chr6:72392716 [GRCh38]
Chr6:73102418 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4665G>A (p.Val1555=) single nucleotide variant not provided [RCV002122522] Chr6:72398295 [GRCh38]
Chr6:73107997 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1152C>T (p.Ala384=) single nucleotide variant not provided [RCV002082674] Chr6:72182623 [GRCh38]
Chr6:72892326 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1958-20C>T single nucleotide variant not provided [RCV002118770] Chr6:72242294 [GRCh38]
Chr6:72951997 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2175T>C (p.Ser725=) single nucleotide variant not provided [RCV002164495] Chr6:72248061 [GRCh38]
Chr6:72957764 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3651G>A (p.Ser1217=) single nucleotide variant not provided [RCV002144259] Chr6:72290775 [GRCh38]
Chr6:73000478 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1957+15T>C single nucleotide variant not provided [RCV002140580] Chr6:72237937 [GRCh38]
Chr6:72947640 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3554+14T>G single nucleotide variant not provided [RCV002155631] Chr6:72284132 [GRCh38]
Chr6:72993835 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1957+17T>A single nucleotide variant not provided [RCV002157613] Chr6:72237939 [GRCh38]
Chr6:72947642 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3483-5C>T single nucleotide variant not provided [RCV002103332] Chr6:72284042 [GRCh38]
Chr6:72993745 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3263G>A (p.Cys1088Tyr) single nucleotide variant not provided [RCV002161511] Chr6:72265458 [GRCh38]
Chr6:72975161 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.285G>A (p.Val95=) single nucleotide variant not provided [RCV002156468] Chr6:72096988 [GRCh38]
Chr6:72806691 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.900C>G (p.Pro300=) single nucleotide variant not provided [RCV002081838] Chr6:72182371 [GRCh38]
Chr6:72892074 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2166T>C (p.Pro722=) single nucleotide variant not provided [RCV002161788] Chr6:72248052 [GRCh38]
Chr6:72957755 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3053+13A>G single nucleotide variant not provided [RCV002140217] Chr6:72259124 [GRCh38]
Chr6:72968827 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3851-20T>C single nucleotide variant not provided [RCV002119230] Chr6:72307238 [GRCh38]
Chr6:73016941 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3482+12C>T single nucleotide variant not provided [RCV002121406] Chr6:72274444 [GRCh38]
Chr6:72984147 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3194+20G>A single nucleotide variant not provided [RCV002154178] Chr6:72265072 [GRCh38]
Chr6:72974775 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.435C>A (p.Gly145=) single nucleotide variant not provided [RCV002198006] Chr6:72097138 [GRCh38]
Chr6:72806841 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3482+15_3482+16delinsGC indel not provided [RCV002143437] Chr6:72274447..72274448 [GRCh38]
Chr6:72984150..72984151 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3117-7G>A single nucleotide variant RIMS1-related disorder [RCV003941277]|not provided [RCV002102320] Chr6:72264968 [GRCh38]
Chr6:72974671 [GRCh37]
Chr6:6q13
benign|likely benign
NM_014989.7(RIMS1):c.2699-17G>T single nucleotide variant not provided [RCV002198408] Chr6:72252744 [GRCh38]
Chr6:72962447 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4236C>T (p.Asp1412=) single nucleotide variant not provided [RCV002156758] Chr6:72333705 [GRCh38]
Chr6:73043408 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.165-18_165-15del deletion not provided [RCV002217179] Chr6:71968963..71968966 [GRCh38]
Chr6:72678666..72678669 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3738-15G>A single nucleotide variant not provided [RCV002184032] Chr6:72291919 [GRCh38]
Chr6:73001622 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3851-13T>C single nucleotide variant not provided [RCV002138745] Chr6:72307245 [GRCh38]
Chr6:73016948 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.876C>T (p.Arg292=) single nucleotide variant not provided [RCV002142529] Chr6:72182347 [GRCh38]
Chr6:72892050 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1581G>A (p.Gln527=) single nucleotide variant not provided [RCV002122532] Chr6:72183052 [GRCh38]
Chr6:72892755 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.164+13C>T single nucleotide variant not provided [RCV002140310] Chr6:71887200 [GRCh38]
Chr6:72596903 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1276C>A (p.Arg426=) single nucleotide variant not provided [RCV002182724] Chr6:72182747 [GRCh38]
Chr6:72892450 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.650G>A (p.Arg217Gln) single nucleotide variant not provided [RCV003115337] Chr6:72179753 [GRCh38]
Chr6:72889456 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1345C>T (p.Pro449Ser) single nucleotide variant not provided [RCV003121964] Chr6:72182816 [GRCh38]
Chr6:72892519 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_72678666)_(72678786_?)del deletion not provided [RCV003119469] Chr6:72678666..72678786 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_72984032)_(73001769_?)del deletion not provided [RCV003119470] Chr6:72984032..73001769 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_72596727)_(72984155_?)dup duplication not provided [RCV003119471] Chr6:72596727..72984155 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly) single nucleotide variant Cone-rod dystrophy 7 [RCV003148244] Chr6:72179900 [GRCh38]
Chr6:72889603 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3929C>G (p.Ser1310Cys) single nucleotide variant not provided [RCV002296871] Chr6:72307336 [GRCh38]
Chr6:73017039 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q13(chr6:71105038-75200617)x1 copy number loss Autism [RCV002292213] Chr6:71105038..75200617 [GRCh37]
Chr6:6q13
pathogenic
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678) copy number loss Chromosome 6q11-q14 deletion syndrome [RCV002280752] Chr6:64954687..79581678 [GRCh37]
Chr6:6q12-14.1
pathogenic
NM_014989.7(RIMS1):c.1679-20589C>T single nucleotide variant Cone-rod dystrophy 7 [RCV002472117] Chr6:72213184 [GRCh38]
Chr6:72922887 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4898A>G (p.Lys1633Arg) single nucleotide variant not provided [RCV002303785] Chr6:72400533 [GRCh38]
Chr6:73110235 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.311G>A (p.Arg104His) single nucleotide variant not provided [RCV002303892] Chr6:72097014 [GRCh38]
Chr6:72806717 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2708G>T (p.Arg903Leu) single nucleotide variant not provided [RCV002303989] Chr6:72252770 [GRCh38]
Chr6:72962473 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3434C>G (p.Pro1145Arg) single nucleotide variant not provided [RCV002303663] Chr6:72274384 [GRCh38]
Chr6:72984087 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1549C>T (p.His517Tyr) single nucleotide variant not provided [RCV002299684]|not specified [RCV004047674] Chr6:72183020 [GRCh38]
Chr6:72892723 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.686C>G (p.Ser229Cys) single nucleotide variant not provided [RCV002298269] Chr6:72179789 [GRCh38]
Chr6:72889492 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1721G>A (p.Ser574Asn) single nucleotide variant not provided [RCV002296399] Chr6:72233815 [GRCh38]
Chr6:72943518 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4196C>T (p.Thr1399Ile) single nucleotide variant not provided [RCV002303355] Chr6:72333665 [GRCh38]
Chr6:73043368 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4103A>G (p.Gln1368Arg) single nucleotide variant not provided [RCV002295743] Chr6:72313645 [GRCh38]
Chr6:73023348 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4700C>G (p.Pro1567Arg) single nucleotide variant not provided [RCV002301171] Chr6:72398330 [GRCh38]
Chr6:73108032 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3752G>A (p.Arg1251Lys) single nucleotide variant not provided [RCV002991364] Chr6:72291948 [GRCh38]
Chr6:73001651 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3963+9A>G single nucleotide variant not provided [RCV002880933] Chr6:72307379 [GRCh38]
Chr6:73017082 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3607G>C (p.Asp1203His) single nucleotide variant not provided [RCV002726999] Chr6:72290731 [GRCh38]
Chr6:73000434 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.623A>G (p.Lys208Arg) single nucleotide variant not provided [RCV002837738] Chr6:72179726 [GRCh38]
Chr6:72889429 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.806G>C (p.Arg269Thr) single nucleotide variant not provided [RCV002613777] Chr6:72179909 [GRCh38]
Chr6:72889612 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3102C>G (p.Cys1034Trp) single nucleotide variant not provided [RCV002972462] Chr6:72260753 [GRCh38]
Chr6:72970456 [GRCh37]
Chr6:6q13
uncertain significance
GRCh37/hg19 6q13(chr6:72886775-73507843)x1 copy number loss not provided [RCV002475688] Chr6:72886775..73507843 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.471+6A>C single nucleotide variant not provided [RCV002880470] Chr6:72099992 [GRCh38]
Chr6:72809695 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4266A>G (p.Thr1422=) single nucleotide variant not provided [RCV002734866] Chr6:72333735 [GRCh38]
Chr6:73043438 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2075C>T (p.Pro692Leu) single nucleotide variant not provided [RCV003034032] Chr6:72242431 [GRCh38]
Chr6:72952134 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2327G>A (p.Arg776His) single nucleotide variant not provided [RCV003076161] Chr6:72250415 [GRCh38]
Chr6:72960118 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.333C>G (p.Asp111Glu) single nucleotide variant not provided [RCV002690302] Chr6:72097036 [GRCh38]
Chr6:72806739 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3053+9C>A single nucleotide variant not provided [RCV002618199] Chr6:72259120 [GRCh38]
Chr6:72968823 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2875G>A (p.Gly959Ser) single nucleotide variant not provided [RCV002690545]|not specified [RCV004066941] Chr6:72258229 [GRCh38]
Chr6:72967932 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2221G>A (p.Val741Ile) single nucleotide variant not provided [RCV002996767] Chr6:72248107 [GRCh38]
Chr6:72957810 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2585C>T (p.Pro862Leu) single nucleotide variant not provided [RCV002819957] Chr6:72251255 [GRCh38]
Chr6:72960958 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3240G>T (p.Gln1080His) single nucleotide variant not provided [RCV002975202] Chr6:72265435 [GRCh38]
Chr6:72975138 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1024G>A (p.Glu342Lys) single nucleotide variant not specified [RCV004154735] Chr6:72182495 [GRCh38]
Chr6:72892198 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.603C>T (p.Gly201=) single nucleotide variant not provided [RCV002838957] Chr6:72179706 [GRCh38]
Chr6:72889409 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3117-18T>C single nucleotide variant not provided [RCV002971838] Chr6:72264957 [GRCh38]
Chr6:72974660 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4776G>C (p.Lys1592Asn) single nucleotide variant not provided [RCV002681531] Chr6:72399010 [GRCh38]
Chr6:73108712 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3854G>T (p.Ser1285Ile) single nucleotide variant not provided [RCV002776571] Chr6:72307261 [GRCh38]
Chr6:73016964 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1319G>A (p.Gly440Asp) single nucleotide variant not specified [RCV004140577] Chr6:72182790 [GRCh38]
Chr6:72892493 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.925G>A (p.Glu309Lys) single nucleotide variant not provided [RCV003033807] Chr6:72182396 [GRCh38]
Chr6:72892099 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1031_1036dup (p.Gln345_Arg346insLysGln) duplication not provided [RCV002863726] Chr6:72182498..72182499 [GRCh38]
Chr6:72892201..72892202 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1735C>A (p.Pro579Thr) single nucleotide variant not provided [RCV003032318] Chr6:72233829 [GRCh38]
Chr6:72943532 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1858-19T>C single nucleotide variant not provided [RCV002617380] Chr6:72237804 [GRCh38]
Chr6:72947507 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.581_583dup (p.Ser194_Asp195insGly) duplication not provided [RCV003015773] Chr6:72179683..72179684 [GRCh38]
Chr6:72889386..72889387 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1491G>A (p.Arg497=) single nucleotide variant not provided [RCV002618369] Chr6:72182962 [GRCh38]
Chr6:72892665 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1944A>G (p.Gly648=) single nucleotide variant not provided [RCV002904412] Chr6:72237909 [GRCh38]
Chr6:72947612 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4257T>G (p.Ala1419=) single nucleotide variant not provided [RCV002996443] Chr6:72333726 [GRCh38]
Chr6:73043429 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.888C>A (p.Thr296=) single nucleotide variant not provided [RCV002690157] Chr6:72182359 [GRCh38]
Chr6:72892062 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.806G>A (p.Arg269Lys) single nucleotide variant not provided [RCV002731556] Chr6:72179909 [GRCh38]
Chr6:72889612 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1845G>A (p.Leu615=) single nucleotide variant not provided [RCV002996449] Chr6:72235716 [GRCh38]
Chr6:72945419 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.459+14G>A single nucleotide variant not provided [RCV002617603] Chr6:72097176 [GRCh38]
Chr6:72806879 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1287G>A (p.Ser429=) single nucleotide variant not provided [RCV002794801] Chr6:72182758 [GRCh38]
Chr6:72892461 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3054-9T>C single nucleotide variant not provided [RCV002755734] Chr6:72260696 [GRCh38]
Chr6:72970399 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4048A>G (p.Ile1350Val) single nucleotide variant not provided [RCV002685912]|not specified [RCV004066882] Chr6:72313590 [GRCh38]
Chr6:73023293 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1085C>T (p.Ala362Val) single nucleotide variant not provided [RCV003014812] Chr6:72182556 [GRCh38]
Chr6:72892259 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.164+17C>G single nucleotide variant not provided [RCV002685981] Chr6:71887204 [GRCh38]
Chr6:72596907 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4048A>C (p.Ile1350Leu) single nucleotide variant not provided [RCV003015803] Chr6:72313590 [GRCh38]
Chr6:73023293 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2544+19A>G single nucleotide variant not provided [RCV002593161] Chr6:72251111 [GRCh38]
Chr6:72960814 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.966G>T (p.Gly322=) single nucleotide variant not provided [RCV002825222] Chr6:72182437 [GRCh38]
Chr6:72892140 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1190G>A (p.Arg397His) single nucleotide variant not provided [RCV003055588] Chr6:72182661 [GRCh38]
Chr6:72892364 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1285T>G (p.Ser429Ala) single nucleotide variant not provided [RCV002571815] Chr6:72182756 [GRCh38]
Chr6:72892459 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2379A>C (p.Lys793Asn) single nucleotide variant not provided [RCV002825563] Chr6:72250927 [GRCh38]
Chr6:72960630 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1476G>A (p.Val492=) single nucleotide variant not provided [RCV003039609] Chr6:72182947 [GRCh38]
Chr6:72892650 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4017A>G (p.Ser1339=) single nucleotide variant not provided [RCV002825177] Chr6:72313559 [GRCh38]
Chr6:73023262 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1077G>A (p.Pro359=) single nucleotide variant not provided [RCV002622935] Chr6:72182548 [GRCh38]
Chr6:72892251 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1266_1267delinsCT (p.Asp423Tyr) indel not provided [RCV003054421] Chr6:72182737..72182738 [GRCh38]
Chr6:72892440..72892441 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3973C>T (p.His1325Tyr) single nucleotide variant not specified [RCV004170449] Chr6:72313515 [GRCh38]
Chr6:73023218 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3851-14A>T single nucleotide variant not provided [RCV002590960] Chr6:72307244 [GRCh38]
Chr6:73016947 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3661T>G (p.Ser1221Ala) single nucleotide variant not provided [RCV002638330]|not specified [RCV004072048] Chr6:72290785 [GRCh38]
Chr6:73000488 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4951A>C (p.Met1651Leu) single nucleotide variant not specified [RCV004171982] Chr6:72400586 [GRCh38]
Chr6:73110288 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3308G>A (p.Ser1103Asn) single nucleotide variant not provided [RCV002948541] Chr6:72265503 [GRCh38]
Chr6:72975206 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.813-13T>C single nucleotide variant not provided [RCV002847304] Chr6:72182271 [GRCh38]
Chr6:72891974 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3554+7T>C single nucleotide variant not provided [RCV003018395] Chr6:72284125 [GRCh38]
Chr6:72993828 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1362T>G (p.His454Gln) single nucleotide variant not provided [RCV003019027] Chr6:72182833 [GRCh38]
Chr6:72892536 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1274C>T (p.Pro425Leu) single nucleotide variant not provided [RCV002590921] Chr6:72182745 [GRCh38]
Chr6:72892448 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2734T>C (p.Tyr912His) single nucleotide variant not provided [RCV003019835] Chr6:72252796 [GRCh38]
Chr6:72962499 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4721-13T>C single nucleotide variant not provided [RCV002621612] Chr6:72398942 [GRCh38]
Chr6:73108644 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.952A>G (p.Arg318Gly) single nucleotide variant not provided [RCV002621493] Chr6:72182423 [GRCh38]
Chr6:72892126 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.717A>T (p.Pro239=) single nucleotide variant not provided [RCV002590523] Chr6:72179820 [GRCh38]
Chr6:72889523 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.5016C>T (p.Leu1672=) single nucleotide variant not provided [RCV003036395] Chr6:72400651 [GRCh38]
Chr6:73110353 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-11G>A single nucleotide variant not provided [RCV002847411] Chr6:72233762 [GRCh38]
Chr6:72943465 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.244C>T (p.Pro82Ser) single nucleotide variant not provided [RCV002695830]|not specified [RCV004067633] Chr6:71969062 [GRCh38]
Chr6:72678765 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.950G>A (p.Arg317Gln) single nucleotide variant not provided [RCV002800029]|not specified [RCV004064670] Chr6:72182421 [GRCh38]
Chr6:72892124 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.690G>C (p.Gln230His) single nucleotide variant not provided [RCV002662478] Chr6:72179793 [GRCh38]
Chr6:72889496 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4529T>C (p.Leu1510Pro) single nucleotide variant not provided [RCV002736417] Chr6:72392721 [GRCh38]
Chr6:73102423 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4454C>T (p.Pro1485Leu) single nucleotide variant not provided [RCV002621870] Chr6:72390685 [GRCh38]
Chr6:73100387 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1394A>C (p.Lys465Thr) single nucleotide variant not provided [RCV002999790] Chr6:72182865 [GRCh38]
Chr6:72892568 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1566C>T (p.Gly522=) single nucleotide variant not provided [RCV002571053] Chr6:72183037 [GRCh38]
Chr6:72892740 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2855G>A (p.Arg952His) single nucleotide variant not provided [RCV002795547] Chr6:72258209 [GRCh38]
Chr6:72967912 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.32_33delinsAA (p.Arg11Gln) indel not provided [RCV002848347] Chr6:71887055..71887056 [GRCh38]
Chr6:72596758..72596759 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3399-2del deletion not provided [RCV003037176] Chr6:72274347 [GRCh38]
Chr6:72984050 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2081+15del deletion not provided [RCV002570945] Chr6:72242446 [GRCh38]
Chr6:72952149 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.1909A>C (p.Lys637Gln) single nucleotide variant not provided [RCV002695049] Chr6:72237874 [GRCh38]
Chr6:72947577 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3850+11A>G single nucleotide variant not provided [RCV002760408] Chr6:72292057 [GRCh38]
Chr6:73001760 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1796G>A (p.Arg599His) single nucleotide variant not provided [RCV002639528] Chr6:72235667 [GRCh38]
Chr6:72945370 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4055G>A (p.Arg1352Gln) single nucleotide variant not provided [RCV003081232]|not specified [RCV004071614] Chr6:72313597 [GRCh38]
Chr6:73023300 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3089G>A (p.Arg1030Gln) single nucleotide variant not provided [RCV002913751] Chr6:72260740 [GRCh38]
Chr6:72970443 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2915T>C (p.Val972Ala) single nucleotide variant not provided [RCV003036357] Chr6:72258269 [GRCh38]
Chr6:72967972 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4496C>T (p.Ser1499Phe) single nucleotide variant not provided [RCV002659202] Chr6:72390727 [GRCh38]
Chr6:73100429 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3308+7A>C single nucleotide variant not provided [RCV002948777] Chr6:72265510 [GRCh38]
Chr6:72975213 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1738A>G (p.Ile580Val) single nucleotide variant not provided [RCV002885614] Chr6:72233832 [GRCh38]
Chr6:72943535 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1375G>T (p.Ala459Ser) single nucleotide variant not provided [RCV002909694] Chr6:72182846 [GRCh38]
Chr6:72892549 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2440G>A (p.Val814Ile) single nucleotide variant not provided [RCV002705397] Chr6:72250988 [GRCh38]
Chr6:72960691 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2939A>C (p.Glu980Ala) single nucleotide variant not provided [RCV002662489] Chr6:72258997 [GRCh38]
Chr6:72968700 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3533G>C (p.Gly1178Ala) single nucleotide variant not provided [RCV002569788] Chr6:72284097 [GRCh38]
Chr6:72993800 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3416C>G (p.Ser1139Cys) single nucleotide variant not provided [RCV002823995] Chr6:72274366 [GRCh38]
Chr6:72984069 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.49C>T (p.Pro17Ser) single nucleotide variant not provided [RCV002975732] Chr6:71887072 [GRCh38]
Chr6:72596775 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4237G>A (p.Gly1413Ser) single nucleotide variant not provided [RCV003035403] Chr6:72333706 [GRCh38]
Chr6:73043409 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1411A>C (p.Arg471=) single nucleotide variant not provided [RCV003020756] Chr6:72182882 [GRCh38]
Chr6:72892585 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3114C>A (p.Thr1038=) single nucleotide variant not provided [RCV002659075] Chr6:72260765 [GRCh38]
Chr6:72970468 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4861-10A>G single nucleotide variant not provided [RCV002663907] Chr6:72400486 [GRCh38]
Chr6:73110188 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1149C>G (p.Arg383=) single nucleotide variant not provided [RCV003042424] Chr6:72182620 [GRCh38]
Chr6:72892323 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3338G>A (p.Arg1113Lys) single nucleotide variant not provided [RCV002596701] Chr6:72265989 [GRCh38]
Chr6:72975692 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1204G>T (p.Ala402Ser) single nucleotide variant not provided [RCV002626747] Chr6:72182675 [GRCh38]
Chr6:72892378 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.339_341dup (p.Pro114_Thr115insPro) duplication not provided [RCV002876232] Chr6:72097040..72097041 [GRCh38]
Chr6:72806743..72806744 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4506-14C>T single nucleotide variant not provided [RCV002791407] Chr6:72392684 [GRCh38]
Chr6:73102386 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1703A>C (p.Asp568Ala) single nucleotide variant not provided [RCV002667710] Chr6:72233797 [GRCh38]
Chr6:72943500 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.321C>T (p.Gly107=) single nucleotide variant not provided [RCV002895173] Chr6:72097024 [GRCh38]
Chr6:72806727 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.246-6G>A single nucleotide variant not provided [RCV002597226] Chr6:72096943 [GRCh38]
Chr6:72806646 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.165-11A>G single nucleotide variant not provided [RCV002643025] Chr6:71968972 [GRCh38]
Chr6:72678675 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2919A>G (p.Pro973=) single nucleotide variant not provided [RCV003022266] Chr6:72258273 [GRCh38]
Chr6:72967976 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2770+4C>G single nucleotide variant not provided [RCV002574144] Chr6:72252836 [GRCh38]
Chr6:72962539 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3178C>T (p.His1060Tyr) single nucleotide variant not provided [RCV002663320] Chr6:72265036 [GRCh38]
Chr6:72974739 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4618+11T>G single nucleotide variant not provided [RCV002710965] Chr6:72392821 [GRCh38]
Chr6:73102523 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1044G>C (p.Glu348Asp) single nucleotide variant not provided [RCV003005765] Chr6:72182515 [GRCh38]
Chr6:72892218 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3064A>G (p.Met1022Val) single nucleotide variant not provided [RCV002625626] Chr6:72260715 [GRCh38]
Chr6:72970418 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4845G>T (p.Gln1615His) single nucleotide variant not provided [RCV002642658] Chr6:72399079 [GRCh38]
Chr6:73108781 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3983A>G (p.Gln1328Arg) single nucleotide variant not provided [RCV002710569] Chr6:72313525 [GRCh38]
Chr6:73023228 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1046A>G (p.Glu349Gly) single nucleotide variant not provided [RCV002593920] Chr6:72182517 [GRCh38]
Chr6:72892220 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.10G>T (p.Ala4Ser) single nucleotide variant not provided [RCV002954095] Chr6:71887033 [GRCh38]
Chr6:72596736 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2454A>G (p.Val818=) single nucleotide variant not provided [RCV002890938] Chr6:72251002 [GRCh38]
Chr6:72960705 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1963G>C (p.Glu655Gln) single nucleotide variant not specified [RCV004148643] Chr6:72242319 [GRCh38]
Chr6:72952022 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4452G>T (p.Gln1484His) single nucleotide variant not provided [RCV003057329] Chr6:72390683 [GRCh38]
Chr6:73100385 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3722C>A (p.Ser1241Tyr) single nucleotide variant not provided [RCV002593762] Chr6:72290846 [GRCh38]
Chr6:73000549 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3243C>T (p.Asp1081=) single nucleotide variant not provided [RCV002593565] Chr6:72265438 [GRCh38]
Chr6:72975141 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.537C>G (p.Phe179Leu) single nucleotide variant not provided [RCV002791293] Chr6:72179640 [GRCh38]
Chr6:72889343 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2675A>G (p.Glu892Gly) single nucleotide variant not provided [RCV003023277] Chr6:72251345 [GRCh38]
Chr6:72961048 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1395A>C (p.Lys465Asn) single nucleotide variant not provided [RCV003043314] Chr6:72182866 [GRCh38]
Chr6:72892569 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2242-15C>T single nucleotide variant not provided [RCV002593630] Chr6:72250315 [GRCh38]
Chr6:72960018 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.384C>T (p.Cys128=) single nucleotide variant not provided [RCV002663358] Chr6:72097087 [GRCh38]
Chr6:72806790 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3714G>A (p.Ala1238=) single nucleotide variant not provided [RCV002642972] Chr6:72290838 [GRCh38]
Chr6:73000541 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.258A>G (p.Gln86=) single nucleotide variant not provided [RCV002872311] Chr6:72096961 [GRCh38]
Chr6:72806664 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2927+15G>A single nucleotide variant not provided [RCV002929186] Chr6:72258296 [GRCh38]
Chr6:72967999 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.88G>C (p.Glu30Gln) single nucleotide variant not provided [RCV002575564] Chr6:71887111 [GRCh38]
Chr6:72596814 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.606T>C (p.Ser202=) single nucleotide variant not provided [RCV002700217] Chr6:72179709 [GRCh38]
Chr6:72889412 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4505+17C>G single nucleotide variant not provided [RCV002872430] Chr6:72390753 [GRCh38]
Chr6:73100455 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3482+20C>T single nucleotide variant not provided [RCV002894473] Chr6:72274452 [GRCh38]
Chr6:72984155 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2903G>A (p.Arg968His) single nucleotide variant not provided [RCV002626730] Chr6:72258257 [GRCh38]
Chr6:72967960 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.993G>A (p.Pro331=) single nucleotide variant not provided [RCV002701307] Chr6:72182464 [GRCh38]
Chr6:72892167 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.460-13T>C single nucleotide variant not provided [RCV002894645] Chr6:72099962 [GRCh38]
Chr6:72809665 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4490A>G (p.Tyr1497Cys) single nucleotide variant not provided [RCV002932428] Chr6:72390721 [GRCh38]
Chr6:73100423 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.406C>A (p.Arg136Ser) single nucleotide variant not provided [RCV003085180] Chr6:72097109 [GRCh38]
Chr6:72806812 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2689A>G (p.Lys897Glu) single nucleotide variant not provided [RCV003055862] Chr6:72251359 [GRCh38]
Chr6:72961062 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.979T>A (p.Tyr327Asn) single nucleotide variant not provided [RCV002856470] Chr6:72182450 [GRCh38]
Chr6:72892153 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3206C>T (p.Pro1069Leu) single nucleotide variant not specified [RCV004182964] Chr6:72265401 [GRCh38]
Chr6:72975104 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1367C>G (p.Pro456Arg) single nucleotide variant not provided [RCV002601583] Chr6:72182838 [GRCh38]
Chr6:72892541 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3626G>A (p.Gly1209Glu) single nucleotide variant not specified [RCV004092330] Chr6:72290750 [GRCh38]
Chr6:73000453 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1127_1128delinsTA (p.Arg376Leu) indel not provided [RCV002601219] Chr6:72182598..72182599 [GRCh38]
Chr6:72892301..72892302 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3208G>A (p.Ala1070Thr) single nucleotide variant not provided [RCV002631440] Chr6:72265403 [GRCh38]
Chr6:72975106 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4120G>A (p.Gly1374Ser) single nucleotide variant not provided [RCV002675759]|not specified [RCV004066755] Chr6:72313662 [GRCh38]
Chr6:73023365 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1803T>C (p.Ile601=) single nucleotide variant not provided [RCV003031238] Chr6:72235674 [GRCh38]
Chr6:72945377 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1139G>A (p.Arg380Gln) single nucleotide variant not provided [RCV002601389] Chr6:72182610 [GRCh38]
Chr6:72892313 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2757C>T (p.Gly919=) single nucleotide variant not provided [RCV002580699] Chr6:72252819 [GRCh38]
Chr6:72962522 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1380A>C (p.Glu460Asp) single nucleotide variant not provided [RCV003089570] Chr6:72182851 [GRCh38]
Chr6:72892554 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1453C>T (p.Arg485Trp) single nucleotide variant not provided [RCV002676116] Chr6:72182924 [GRCh38]
Chr6:72892627 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4430A>C (p.Glu1477Ala) single nucleotide variant not provided [RCV002966636] Chr6:72390661 [GRCh38]
Chr6:73100363 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1204G>C (p.Ala402Pro) single nucleotide variant not specified [RCV004157262] Chr6:72182675 [GRCh38]
Chr6:72892378 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4310A>G (p.Lys1437Arg) single nucleotide variant not provided [RCV002646390] Chr6:72333779 [GRCh38]
Chr6:73043482 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2433A>G (p.Gln811=) single nucleotide variant not provided [RCV003061850] Chr6:72250981 [GRCh38]
Chr6:72960684 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3891G>C (p.Met1297Ile) single nucleotide variant not provided [RCV002716692] Chr6:72307298 [GRCh38]
Chr6:73017001 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3399-2_3399-1del deletion not provided [RCV002597503] Chr6:72274347..72274348 [GRCh38]
Chr6:72984050..72984051 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4367-7C>T single nucleotide variant not provided [RCV002895339] Chr6:72390591 [GRCh38]
Chr6:73100293 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.41C>T (p.Thr14Met) single nucleotide variant not provided [RCV002630293] Chr6:71887064 [GRCh38]
Chr6:72596767 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4264A>G (p.Thr1422Ala) single nucleotide variant not provided [RCV002672078] Chr6:72333733 [GRCh38]
Chr6:73043436 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2082-18A>G single nucleotide variant not provided [RCV002600418] Chr6:72245797 [GRCh38]
Chr6:72955500 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1224G>C (p.Lys408Asn) single nucleotide variant not provided [RCV002792029] Chr6:72182695 [GRCh38]
Chr6:72892398 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3308+6A>C single nucleotide variant not provided [RCV003043713] Chr6:72265509 [GRCh38]
Chr6:72975212 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.755T>C (p.Leu252Ser) single nucleotide variant not provided [RCV002578066] Chr6:72179858 [GRCh38]
Chr6:72889561 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.569A>T (p.Asp190Val) single nucleotide variant not provided [RCV002581078] Chr6:72179672 [GRCh38]
Chr6:72889375 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3117-7G>T single nucleotide variant not provided [RCV002650103] Chr6:72264968 [GRCh38]
Chr6:72974671 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1446C>T (p.Val482=) single nucleotide variant not provided [RCV002580557] Chr6:72182917 [GRCh38]
Chr6:72892620 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1725G>A (p.Arg575=) single nucleotide variant not provided [RCV002895780] Chr6:72233819 [GRCh38]
Chr6:72943522 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2739G>C (p.Glu913Asp) single nucleotide variant not provided [RCV002806527] Chr6:72252801 [GRCh38]
Chr6:72962504 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3364C>T (p.Pro1122Ser) single nucleotide variant not provided [RCV002832877] Chr6:72266015 [GRCh38]
Chr6:72975718 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3308+5G>C single nucleotide variant not provided [RCV002631262] Chr6:72265508 [GRCh38]
Chr6:72975211 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3670A>G (p.Arg1224Gly) single nucleotide variant not provided [RCV002580325] Chr6:72290794 [GRCh38]
Chr6:73000497 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4481T>A (p.Ile1494Asn) single nucleotide variant not provided [RCV002597788] Chr6:72390712 [GRCh38]
Chr6:73100414 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1958-18C>G single nucleotide variant not provided [RCV002834691] Chr6:72242296 [GRCh38]
Chr6:72951999 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3463_3464delinsAG (p.Ala1155Arg) indel not provided [RCV003063838] Chr6:72274413..72274414 [GRCh38]
Chr6:72984116..72984117 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1136C>T (p.Ala379Val) single nucleotide variant not provided [RCV002646265] Chr6:72182607 [GRCh38]
Chr6:72892310 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2082-3del deletion not provided [RCV002649764] Chr6:72245809 [GRCh38]
Chr6:72955512 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3736A>G (p.Arg1246Gly) single nucleotide variant not provided [RCV002631351] Chr6:72290860 [GRCh38]
Chr6:73000563 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.528G>C (p.Gly176=) single nucleotide variant not provided [RCV002646060] Chr6:72179631 [GRCh38]
Chr6:72889334 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1279dup (p.Ala427fs) duplication not provided [RCV003045927] Chr6:72182747..72182748 [GRCh38]
Chr6:72892450..72892451 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2500G>C (p.Asp834His) single nucleotide variant not provided [RCV002630855] Chr6:72251048 [GRCh38]
Chr6:72960751 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.138GGA[1] (p.Glu48del) microsatellite not provided [RCV003046388] Chr6:71887159..71887161 [GRCh38]
Chr6:72596862..72596864 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2992C>T (p.Arg998Ter) single nucleotide variant not provided [RCV002715835] Chr6:72259050 [GRCh38]
Chr6:72968753 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.943G>A (p.Glu315Lys) single nucleotide variant not provided [RCV002650723] Chr6:72182414 [GRCh38]
Chr6:72892117 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4518T>C (p.Pro1506=) single nucleotide variant not provided [RCV003044780] Chr6:72392710 [GRCh38]
Chr6:73102412 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1183C>A (p.Leu395Ile) single nucleotide variant not provided [RCV003028206] Chr6:72182654 [GRCh38]
Chr6:72892357 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2927+10G>A single nucleotide variant not provided [RCV003028293] Chr6:72258291 [GRCh38]
Chr6:72967994 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1341C>T (p.His447=) single nucleotide variant not provided [RCV003045472] Chr6:72182812 [GRCh38]
Chr6:72892515 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4199G>A (p.Ser1400Asn) single nucleotide variant not provided [RCV003045822] Chr6:72333668 [GRCh38]
Chr6:73043371 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1320C>T (p.Gly440=) single nucleotide variant not provided [RCV002601499] Chr6:72182791 [GRCh38]
Chr6:72892494 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.472-16T>C single nucleotide variant not provided [RCV003010031] Chr6:72179559 [GRCh38]
Chr6:72889262 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.190C>A (p.Pro64Thr) single nucleotide variant not provided [RCV002600846] Chr6:71969008 [GRCh38]
Chr6:72678711 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1679-12del deletion not provided [RCV002877467] Chr6:72233757 [GRCh38]
Chr6:72943460 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.2477G>A (p.Arg826Gln) single nucleotide variant not provided [RCV002634775] Chr6:72251025 [GRCh38]
Chr6:72960728 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3129G>C (p.Arg1043Ser) single nucleotide variant not provided [RCV003050047] Chr6:72264987 [GRCh38]
Chr6:72974690 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3836G>A (p.Gly1279Asp) single nucleotide variant not provided [RCV002654532] Chr6:72292032 [GRCh38]
Chr6:73001735 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.722G>A (p.Arg241Lys) single nucleotide variant not provided [RCV002942349] Chr6:72179825 [GRCh38]
Chr6:72889528 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.378T>A (p.Asp126Glu) single nucleotide variant not provided [RCV002725279] Chr6:72097081 [GRCh38]
Chr6:72806784 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2545-9C>T single nucleotide variant not provided [RCV002653982] Chr6:72251206 [GRCh38]
Chr6:72960909 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-12dup duplication not provided [RCV002814532] Chr6:72233756..72233757 [GRCh38]
Chr6:72943459..72943460 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.3785C>G (p.Ser1262Trp) single nucleotide variant not provided [RCV002814934] Chr6:72291981 [GRCh38]
Chr6:73001684 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.450G>A (p.Arg150=) single nucleotide variant not provided [RCV002604655] Chr6:72097153 [GRCh38]
Chr6:72806856 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1066C>A (p.Arg356Ser) single nucleotide variant not provided [RCV002658351] Chr6:72182537 [GRCh38]
Chr6:72892240 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1199C>T (p.Ala400Val) single nucleotide variant not provided [RCV002722162] Chr6:72182670 [GRCh38]
Chr6:72892373 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1419G>C (p.Gln473His) single nucleotide variant not provided [RCV002653652]|not specified [RCV004066752] Chr6:72182890 [GRCh38]
Chr6:72892593 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1177G>C (p.Val393Leu) single nucleotide variant not provided [RCV002721321] Chr6:72182648 [GRCh38]
Chr6:72892351 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4797C>G (p.Thr1599=) single nucleotide variant not provided [RCV003049515] Chr6:72399031 [GRCh38]
Chr6:73108733 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2170A>G (p.Ile724Val) single nucleotide variant not provided [RCV002604256] Chr6:72248056 [GRCh38]
Chr6:72957759 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3947G>A (p.Arg1316His) single nucleotide variant not provided [RCV002605448] Chr6:72307354 [GRCh38]
Chr6:73017057 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5058G>A (p.Gly1686=) single nucleotide variant not provided [RCV002605484] Chr6:72400693 [GRCh38]
Chr6:73110395 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3974A>G (p.His1325Arg) single nucleotide variant not provided [RCV002583484] Chr6:72313516 [GRCh38]
Chr6:73023219 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4130+14A>G single nucleotide variant not provided [RCV002654154] Chr6:72313686 [GRCh38]
Chr6:73023389 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.469G>C (p.Val157Leu) single nucleotide variant not provided [RCV002609908] Chr6:72099984 [GRCh38]
Chr6:72809687 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3650C>T (p.Ser1217Leu) single nucleotide variant not provided [RCV002609916] Chr6:72290774 [GRCh38]
Chr6:73000477 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.659C>T (p.Thr220Ile) single nucleotide variant not provided [RCV003051950] Chr6:72179762 [GRCh38]
Chr6:72889465 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3737+20C>T single nucleotide variant not provided [RCV003052548] Chr6:72290881 [GRCh38]
Chr6:73000584 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1247C>T (p.Ala416Val) single nucleotide variant not provided [RCV003052574] Chr6:72182718 [GRCh38]
Chr6:72892421 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2770+4C>T single nucleotide variant not provided [RCV002608698] Chr6:72252836 [GRCh38]
Chr6:72962539 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.825A>T (p.Pro275=) single nucleotide variant not provided [RCV002589753] Chr6:72182296 [GRCh38]
Chr6:72891999 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2544+3G>A single nucleotide variant not provided [RCV002725833] Chr6:72251095 [GRCh38]
Chr6:72960798 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1719C>T (p.His573=) single nucleotide variant not provided [RCV002587281] Chr6:72233813 [GRCh38]
Chr6:72943516 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.237A>G (p.Gln79=) single nucleotide variant not provided [RCV002633224] Chr6:71969055 [GRCh38]
Chr6:72678758 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.507A>G (p.Gln169=) single nucleotide variant not provided [RCV002604753] Chr6:72179610 [GRCh38]
Chr6:72889313 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4505+17C>T single nucleotide variant not provided [RCV002583513] Chr6:72390753 [GRCh38]
Chr6:73100455 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2464G>A (p.Asp822Asn) single nucleotide variant not provided [RCV002613255] Chr6:72251012 [GRCh38]
Chr6:72960715 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.460-6C>T single nucleotide variant not provided [RCV002609907] Chr6:72099969 [GRCh38]
Chr6:72809672 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3667A>G (p.Ile1223Val) single nucleotide variant not provided [RCV002589661]|not specified [RCV004064631] Chr6:72290791 [GRCh38]
Chr6:73000494 [GRCh37]
Chr6:6q13
likely benign|uncertain significance
NM_014989.7(RIMS1):c.3295G>A (p.Glu1099Lys) single nucleotide variant not provided [RCV002634535] Chr6:72265490 [GRCh38]
Chr6:72975193 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2699-19_2699-18del deletion not provided [RCV003049632] Chr6:72252741..72252742 [GRCh38]
Chr6:72962444..72962445 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2128+16C>T single nucleotide variant not provided [RCV002676831] Chr6:72245877 [GRCh38]
Chr6:72955580 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1334C>G (p.Thr445Arg) single nucleotide variant not provided [RCV002590240] Chr6:72182805 [GRCh38]
Chr6:72892508 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3257A>G (p.His1086Arg) single nucleotide variant not specified [RCV004251039] Chr6:72265452 [GRCh38]
Chr6:72975155 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3909G>T (p.Lys1303Asn) single nucleotide variant not specified [RCV004278559] Chr6:72307316 [GRCh38]
Chr6:73017019 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.26G>T (p.Gly9Val) single nucleotide variant not specified [RCV004270972] Chr6:71887049 [GRCh38]
Chr6:72596752 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2872C>A (p.Arg958Ser) single nucleotide variant not specified [RCV004353954] Chr6:72258226 [GRCh38]
Chr6:72967929 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3796C>T (p.Arg1266Cys) single nucleotide variant not provided [RCV003873625] Chr6:72291992 [GRCh38]
Chr6:73001695 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2545-7C>T single nucleotide variant not provided [RCV003571841] Chr6:72251208 [GRCh38]
Chr6:72960911 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1252A>G (p.Arg418Gly) single nucleotide variant not provided [RCV003570101] Chr6:72182723 [GRCh38]
Chr6:72892426 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4250A>T (p.Asp1417Val) single nucleotide variant not provided [RCV003428873] Chr6:72333719 [GRCh38]
Chr6:73043422 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3935A>G (p.Gln1312Arg) single nucleotide variant not provided [RCV003428872] Chr6:72307342 [GRCh38]
Chr6:73017045 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4251C>T (p.Asp1417=) single nucleotide variant not provided [RCV003431902] Chr6:72333720 [GRCh38]
Chr6:73043423 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3478G>T (p.Asp1160Tyr) single nucleotide variant not provided [RCV003428871] Chr6:72274428 [GRCh38]
Chr6:72984131 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1483A>C (p.Met495Leu) single nucleotide variant not provided [RCV003691893] Chr6:72182954 [GRCh38]
Chr6:72892657 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2236C>T (p.Leu746Phe) single nucleotide variant not provided [RCV003544438] Chr6:72248122 [GRCh38]
Chr6:72957825 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3116+17G>A single nucleotide variant not provided [RCV003546359] Chr6:72260784 [GRCh38]
Chr6:72970487 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2515C>A (p.Gln839Lys) single nucleotide variant not provided [RCV003878655]|not specified [RCV004661808] Chr6:72251063 [GRCh38]
Chr6:72960766 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2328T>C (p.Arg776=) single nucleotide variant not provided [RCV003739811] Chr6:72250416 [GRCh38]
Chr6:72960119 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1314G>A (p.Ala438=) single nucleotide variant not provided [RCV003831646] Chr6:72182785 [GRCh38]
Chr6:72892488 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2155A>G (p.Met719Val) single nucleotide variant not provided [RCV003828873] Chr6:72248041 [GRCh38]
Chr6:72957744 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.319G>A (p.Gly107Ser) single nucleotide variant not provided [RCV003831384] Chr6:72097022 [GRCh38]
Chr6:72806725 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1700T>G (p.Leu567Trp) single nucleotide variant not provided [RCV003696681] Chr6:72233794 [GRCh38]
Chr6:72943497 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3737+6T>A single nucleotide variant not provided [RCV003880918] Chr6:72290867 [GRCh38]
Chr6:73000570 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3268A>G (p.Asn1090Asp) single nucleotide variant not provided [RCV003694787] Chr6:72265463 [GRCh38]
Chr6:72975166 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3833G>A (p.Ser1278Asn) single nucleotide variant not provided [RCV003830513] Chr6:72292029 [GRCh38]
Chr6:73001732 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4268T>G (p.Val1423Gly) single nucleotide variant not provided [RCV003824685] Chr6:72333737 [GRCh38]
Chr6:73043440 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1656G>A (p.Glu552=) single nucleotide variant not provided [RCV003715302] Chr6:72183127 [GRCh38]
Chr6:72892830 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4175G>A (p.Gly1392Glu) single nucleotide variant not provided [RCV003577454] Chr6:72333644 [GRCh38]
Chr6:73043347 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4720+10A>G single nucleotide variant not provided [RCV003716172] Chr6:72398360 [GRCh38]
Chr6:73108062 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4130+10C>A single nucleotide variant not provided [RCV003694823] Chr6:72313682 [GRCh38]
Chr6:73023385 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1319G>T (p.Gly440Val) single nucleotide variant not provided [RCV003690125] Chr6:72182790 [GRCh38]
Chr6:72892493 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1494C>T (p.Asn498=) single nucleotide variant not provided [RCV003660102] Chr6:72182965 [GRCh38]
Chr6:72892668 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3965A>G (p.Tyr1322Cys) single nucleotide variant not provided [RCV003573662] Chr6:72313507 [GRCh38]
Chr6:73023210 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1219G>A (p.Gly407Ser) single nucleotide variant not provided [RCV003875828] Chr6:72182690 [GRCh38]
Chr6:72892393 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.366A>G (p.Thr122=) single nucleotide variant not provided [RCV003662185] Chr6:72097069 [GRCh38]
Chr6:72806772 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2698+13C>T single nucleotide variant not provided [RCV003575205] Chr6:72251381 [GRCh38]
Chr6:72961084 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3194+10C>G single nucleotide variant not provided [RCV003547750] Chr6:72265062 [GRCh38]
Chr6:72974765 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2128+16C>A single nucleotide variant not provided [RCV003714716] Chr6:72245877 [GRCh38]
Chr6:72955580 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3483-16A>G single nucleotide variant not provided [RCV003661687] Chr6:72284031 [GRCh38]
Chr6:72993734 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.846C>T (p.Gly282=) single nucleotide variant not provided [RCV003544977] Chr6:72182317 [GRCh38]
Chr6:72892020 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.101A>G (p.Asn34Ser) single nucleotide variant not provided [RCV003662245] Chr6:71887124 [GRCh38]
Chr6:72596827 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.164+20G>A single nucleotide variant not provided [RCV003715565] Chr6:71887207 [GRCh38]
Chr6:72596910 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4618+9C>G single nucleotide variant not provided [RCV003663523] Chr6:72392819 [GRCh38]
Chr6:73102521 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.5020C>T (p.Arg1674Trp) single nucleotide variant not provided [RCV003697821] Chr6:72400655 [GRCh38]
Chr6:73110357 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1346C>T (p.Pro449Leu) single nucleotide variant not provided [RCV003718092]|not specified [RCV004374083] Chr6:72182817 [GRCh38]
Chr6:72892520 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3414C>A (p.Pro1138=) single nucleotide variant not provided [RCV003836017] Chr6:72274364 [GRCh38]
Chr6:72984067 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2933T>C (p.Leu978Ser) single nucleotide variant not provided [RCV003548483] Chr6:72258991 [GRCh38]
Chr6:72968694 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1691A>T (p.Tyr564Phe) single nucleotide variant not provided [RCV003669661] Chr6:72233785 [GRCh38]
Chr6:72943488 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3472G>T (p.Glu1158Ter) single nucleotide variant not provided [RCV003579736] Chr6:72274422 [GRCh38]
Chr6:72984125 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.481G>C (p.Val161Leu) single nucleotide variant not provided [RCV003580827] Chr6:72179584 [GRCh38]
Chr6:72889287 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3964-3T>C single nucleotide variant not provided [RCV003673362] Chr6:72313503 [GRCh38]
Chr6:73023206 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4130+6T>C single nucleotide variant not provided [RCV003670385] Chr6:72313678 [GRCh38]
Chr6:73023381 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4029T>C (p.Asp1343=) single nucleotide variant not provided [RCV003671362] Chr6:72313571 [GRCh38]
Chr6:73023274 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2242-14C>T single nucleotide variant not provided [RCV003837400] Chr6:72250316 [GRCh38]
Chr6:72960019 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2545-5C>G single nucleotide variant not provided [RCV003667776] Chr6:72251210 [GRCh38]
Chr6:72960913 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1678+20C>T single nucleotide variant not provided [RCV003659218] Chr6:72183169 [GRCh38]
Chr6:72892872 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4341A>G (p.Arg1447=) single nucleotide variant not provided [RCV003854811] Chr6:72333810 [GRCh38]
Chr6:73043513 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1243_1257dup (p.Ala419_Ser420insAlaAlaAlaArgAla) duplication not provided [RCV003561646] Chr6:72182713..72182714 [GRCh38]
Chr6:72892416..72892417 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1161G>C (p.Glu387Asp) single nucleotide variant not provided [RCV003673493] Chr6:72182632 [GRCh38]
Chr6:72892335 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2771-13G>A single nucleotide variant not provided [RCV003855873] Chr6:72258112 [GRCh38]
Chr6:72967815 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2731G>A (p.Asp911Asn) single nucleotide variant not provided [RCV003723503] Chr6:72252793 [GRCh38]
Chr6:72962496 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.5045A>G (p.Glu1682Gly) single nucleotide variant not provided [RCV003667014] Chr6:72400680 [GRCh38]
Chr6:73110382 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.851G>C (p.Gly284Ala) single nucleotide variant not provided [RCV003561339] Chr6:72182322 [GRCh38]
Chr6:72892025 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2771-2A>G single nucleotide variant RIMS1-related disorder [RCV003893483]|not provided [RCV003839848] Chr6:72258123 [GRCh38]
Chr6:72967826 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1678+20C>G single nucleotide variant not provided [RCV003665371] Chr6:72183169 [GRCh38]
Chr6:72892872 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.3069G>T (p.Leu1023=) single nucleotide variant not provided [RCV003816618] Chr6:72260720 [GRCh38]
Chr6:72970423 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4148T>C (p.Met1383Thr) single nucleotide variant not provided [RCV003673163] Chr6:72333617 [GRCh38]
Chr6:73043320 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3322T>C (p.Phe1108Leu) single nucleotide variant not provided [RCV003560587] Chr6:72265973 [GRCh38]
Chr6:72975676 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1999G>A (p.Ala667Thr) single nucleotide variant not provided [RCV003672815] Chr6:72242355 [GRCh38]
Chr6:72952058 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1404G>T (p.Glu468Asp) single nucleotide variant not provided [RCV003854503] Chr6:72182875 [GRCh38]
Chr6:72892578 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.378T>C (p.Asp126=) single nucleotide variant not provided [RCV003673014] Chr6:72097081 [GRCh38]
Chr6:72806784 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2786G>A (p.Ser929Asn) single nucleotide variant not provided [RCV003702336] Chr6:72258140 [GRCh38]
Chr6:72967843 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1990C>G (p.Leu664Val) single nucleotide variant not provided [RCV003667340] Chr6:72242346 [GRCh38]
Chr6:72952049 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2661A>T (p.Arg887=) single nucleotide variant not provided [RCV003716956] Chr6:72251331 [GRCh38]
Chr6:72961034 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.19C>A (p.Pro7Thr) single nucleotide variant not provided [RCV003699880] Chr6:71887042 [GRCh38]
Chr6:72596745 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.891A>G (p.Ser297=) single nucleotide variant not provided [RCV003669072] Chr6:72182362 [GRCh38]
Chr6:72892065 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1384C>G (p.Pro462Ala) single nucleotide variant not provided [RCV003834145] Chr6:72182855 [GRCh38]
Chr6:72892558 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.979T>G (p.Tyr327Asp) single nucleotide variant not provided [RCV003548385] Chr6:72182450 [GRCh38]
Chr6:72892153 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3554+1G>A single nucleotide variant not provided [RCV003565731] Chr6:72284119 [GRCh38]
Chr6:72993822 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3617T>C (p.Val1206Ala) single nucleotide variant not provided [RCV003709248] Chr6:72290741 [GRCh38]
Chr6:73000444 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1962T>C (p.Asp654=) single nucleotide variant not provided [RCV003705222] Chr6:72242318 [GRCh38]
Chr6:72952021 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.305C>G (p.Ala102Gly) single nucleotide variant not provided [RCV003861746] Chr6:72097008 [GRCh38]
Chr6:72806711 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3963+16T>C single nucleotide variant not provided [RCV003565215] Chr6:72307386 [GRCh38]
Chr6:73017089 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2815A>T (p.Thr939Ser) single nucleotide variant not provided [RCV003675807] Chr6:72258169 [GRCh38]
Chr6:72967872 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3293A>G (p.Asp1098Gly) single nucleotide variant not provided [RCV003707772] Chr6:72265488 [GRCh38]
Chr6:72975191 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.831T>C (p.Leu277=) single nucleotide variant not provided [RCV003863331] Chr6:72182302 [GRCh38]
Chr6:72892005 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2400A>G (p.Thr800=) single nucleotide variant not provided [RCV003678049] Chr6:72250948 [GRCh38]
Chr6:72960651 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.391C>T (p.Leu131Phe) single nucleotide variant not provided [RCV003735724] Chr6:72097094 [GRCh38]
Chr6:72806797 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2316A>C (p.Arg772Ser) single nucleotide variant not provided [RCV003685797] Chr6:72250404 [GRCh38]
Chr6:72960107 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3804A>C (p.Gly1268=) single nucleotide variant not provided [RCV003685036] Chr6:72292000 [GRCh38]
Chr6:73001703 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2153A>G (p.Lys718Arg) single nucleotide variant not provided [RCV003722212] Chr6:72248039 [GRCh38]
Chr6:72957742 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2176G>A (p.Val726Ile) single nucleotide variant not provided [RCV003736033] Chr6:72248062 [GRCh38]
Chr6:72957765 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1708G>A (p.Ala570Thr) single nucleotide variant not provided [RCV003845966] Chr6:72233802 [GRCh38]
Chr6:72943505 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3534C>T (p.Gly1178=) single nucleotide variant not provided [RCV003685190] Chr6:72284098 [GRCh38]
Chr6:72993801 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2372+15del deletion not provided [RCV003679905] Chr6:72250472 [GRCh38]
Chr6:72960175 [GRCh37]
Chr6:6q13
benign
NM_014989.7(RIMS1):c.5031C>T (p.Ser1677=) single nucleotide variant not provided [RCV003866966] Chr6:72400666 [GRCh38]
Chr6:73110368 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.926A>G (p.Glu309Gly) single nucleotide variant not provided [RCV003718853] Chr6:72182397 [GRCh38]
Chr6:72892100 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4339A>G (p.Arg1447Gly) single nucleotide variant not provided [RCV003683846] Chr6:72333808 [GRCh38]
Chr6:73043511 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3842T>C (p.Ile1281Thr) single nucleotide variant not provided [RCV003840727] Chr6:72292038 [GRCh38]
Chr6:73001741 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1332A>G (p.Leu444=) single nucleotide variant not provided [RCV003861700] Chr6:72182803 [GRCh38]
Chr6:72892506 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1361A>G (p.His454Arg) single nucleotide variant not provided [RCV003723227] Chr6:72182832 [GRCh38]
Chr6:72892535 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2764C>T (p.Pro922Ser) single nucleotide variant not provided [RCV003727354] Chr6:72252826 [GRCh38]
Chr6:72962529 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1226C>T (p.Ala409Val) single nucleotide variant not provided [RCV003712372] Chr6:72182697 [GRCh38]
Chr6:72892400 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.948C>A (p.Ser316Arg) single nucleotide variant not provided [RCV003867642] Chr6:72182419 [GRCh38]
Chr6:72892122 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1384C>T (p.Pro462Ser) single nucleotide variant not provided [RCV003556486] Chr6:72182855 [GRCh38]
Chr6:72892558 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4308C>A (p.Ala1436=) single nucleotide variant not provided [RCV003676530] Chr6:72333777 [GRCh38]
Chr6:73043480 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.320G>T (p.Gly107Val) single nucleotide variant not provided [RCV003711635] Chr6:72097023 [GRCh38]
Chr6:72806726 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1678+12G>A single nucleotide variant not provided [RCV003553141] Chr6:72183161 [GRCh38]
Chr6:72892864 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4367-14CT[2] microsatellite not provided [RCV003819240] Chr6:72390584..72390585 [GRCh38]
Chr6:73100286..73100287 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1193C>G (p.Thr398Ser) single nucleotide variant not provided [RCV003853027] Chr6:72182664 [GRCh38]
Chr6:72892367 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3911A>G (p.Gln1304Arg) single nucleotide variant not provided [RCV003681199] Chr6:72307318 [GRCh38]
Chr6:73017021 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2928-16T>C single nucleotide variant not provided [RCV003846229] Chr6:72258970 [GRCh38]
Chr6:72968673 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2897G>A (p.Arg966His) single nucleotide variant not provided [RCV003712111] Chr6:72258251 [GRCh38]
Chr6:72967954 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3554+6_3554+10del deletion not provided [RCV003730627] Chr6:72284122..72284126 [GRCh38]
Chr6:72993825..72993829 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1920G>A (p.Lys640=) single nucleotide variant not provided [RCV003705190] Chr6:72237885 [GRCh38]
Chr6:72947588 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4487G>A (p.Ser1496Asn) single nucleotide variant not provided [RCV003845575] Chr6:72390718 [GRCh38]
Chr6:73100420 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3309-10C>T single nucleotide variant not provided [RCV003843888] Chr6:72265950 [GRCh38]
Chr6:72975653 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1547C>T (p.Pro516Leu) single nucleotide variant not provided [RCV003823542] Chr6:72183018 [GRCh38]
Chr6:72892721 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1992G>A (p.Leu664=) single nucleotide variant not provided [RCV003566744] Chr6:72242348 [GRCh38]
Chr6:72952051 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.307C>T (p.Arg103Trp) single nucleotide variant not provided [RCV003818973] Chr6:72097010 [GRCh38]
Chr6:72806713 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1034A>G (p.Gln345Arg) single nucleotide variant RIMS1-related disorder [RCV003978949] Chr6:72182505 [GRCh38]
Chr6:72892208 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.471+70C>T single nucleotide variant RIMS1-related disorder [RCV003926767] Chr6:72100056 [GRCh38]
Chr6:72809759 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-16593G>A single nucleotide variant RIMS1-related disorder [RCV003964272] Chr6:72217180 [GRCh38]
Chr6:72926883 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.2659C>A (p.Arg887=) single nucleotide variant not provided [RCV003887346] Chr6:72251329 [GRCh38]
Chr6:72961032 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.1679-20579A>G single nucleotide variant RIMS1-related disorder [RCV003944475] Chr6:72213194 [GRCh38]
Chr6:72922897 [GRCh37]
Chr6:6q13
likely benign
NM_014989.7(RIMS1):c.4002C>A (p.Asn1334Lys) single nucleotide variant not specified [RCV004451731] Chr6:72313544 [GRCh38]
Chr6:73023247 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.2201C>T (p.Ala734Val) single nucleotide variant not specified [RCV004451729] Chr6:72248087 [GRCh38]
Chr6:72957790 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.3593C>T (p.Ala1198Val) single nucleotide variant not specified [RCV004451730] Chr6:72290717 [GRCh38]
Chr6:73000420 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.533G>C (p.Trp178Ser) single nucleotide variant not specified [RCV004451734] Chr6:72179636 [GRCh38]
Chr6:72889339 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4093A>G (p.Met1365Val) single nucleotide variant not specified [RCV004451732] Chr6:72313635 [GRCh38]
Chr6:73023338 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1829A>G (p.Lys610Arg) single nucleotide variant not specified [RCV004451728] Chr6:72235700 [GRCh38]
Chr6:72945403 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.4715C>T (p.Thr1572Ile) single nucleotide variant not specified [RCV004451733] Chr6:72398345 [GRCh38]
Chr6:73108047 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_73100280)_(73110416_?)dup duplication not provided [RCV004578867] Chr6:73100280..73110416 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.743C>G (p.Ser248Trp) single nucleotide variant not specified [RCV004663147] Chr6:72179846 [GRCh38]
Chr6:72889549 [GRCh37]
Chr6:6q13
uncertain significance
NC_000006.11:g.(?_72596727)_(73332335_?)dup duplication not provided [RCV004578866] Chr6:72596727..73332335 [GRCh37]
Chr6:6q13
uncertain significance
NM_014989.7(RIMS1):c.1447C>G (p.Leu483Val) single nucleotide variant RIMS1-related disorder [RCV004757877] Chr6:72182918 [GRCh38]
Chr6:72892621 [GRCh37]
Chr6:6q13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4871
Count of miRNA genes:900
Interacting mature miRNAs:1102
Transcripts:ENST00000264839, ENST00000348717, ENST00000370419, ENST00000370420, ENST00000401910, ENST00000414192, ENST00000425662, ENST00000431478, ENST00000453976, ENST00000463023, ENST00000491071, ENST00000517433, ENST00000517827, ENST00000517960, ENST00000518273, ENST00000520567, ENST00000521978, ENST00000522211, ENST00000522291, ENST00000523963, ENST00000524197, ENST00000538414
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597056596GWAS1152670_Hreaction time measurement QTL GWAS1152670 (human)0.000006reaction time measurement67225343772253438Human
406962370GWAS611346_Hurticaria, response to non-steroidal anti-inflammatory, angioedema QTL GWAS611346 (human)0.000005urticaria, response to non-steroidal anti-inflammatory, angioedema67219705072197051Human
597056595GWAS1152669_Hreaction time measurement QTL GWAS1152669 (human)0.000005reaction time measurement67196515771965158Human
597028912GWAS1124986_Hattempted suicide QTL GWAS1124986 (human)0.000006attempted suicide67225689372256894Human
1298452OSTEAR16_HOsteoarthritis QTL 16 (human)1.850.0016Joint/bone inflammationhip osteoarthritis65725907283259072Human
597276702GWAS1372776_HAlzheimer disease, polygenic risk score QTL GWAS1372776 (human)6e-12Alzheimer disease, polygenic risk score67236930272369303Human
597058559GWAS1154633_Hadolescent idiopathic scoliosis QTL GWAS1154633 (human)3e-13adolescent idiopathic scoliosis67238083572380836Human
597039451GWAS1135525_Hbipolar disorder QTL GWAS1135525 (human)0.0000002bipolar disorder67215520172155202Human
597255991GWAS1352065_Heducational attainment QTL GWAS1352065 (human)2e-10educational attainment67201468772014688Human
597179351GWAS1275425_Hlysophosphatidylcholine 18:2 measurement QTL GWAS1275425 (human)2e-08glycerophosphocholine amount (VT:0011004)67194380671943807Human
597255990GWAS1352064_Heducational attainment QTL GWAS1352064 (human)3e-08educational attainment67200997972009980Human
597239819GWAS1335893_HVertigo QTL GWAS1335893 (human)0.000009Vertigo67208371472083715Human
597277194GWAS1373268_Hdiet measurement QTL GWAS1373268 (human)1e-08diet measurementfood intake measurement (CMO:0000772)67215689472156895Human
597164941GWAS1261015_HMeniere disease QTL GWAS1261015 (human)2e-08Meniere disease67218488572184886Human
597354787GWAS1450861_Hbody height QTL GWAS1450861 (human)3e-08body height (VT:0001253)body height (CMO:0000106)67216617072166171Human
597069418GWAS1165492_Hlung carcinoma QTL GWAS1165492 (human)0.000009lung carcinoma67193924171939242Human
597337350GWAS1433424_Hbreast density QTL GWAS1433424 (human)0.000002breast density67202763872027639Human
597259813GWAS1355887_Hschizophrenia QTL GWAS1355887 (human)0.0000006schizophrenia67225151972251520Human
597335559GWAS1431633_Hexecutive function measurement QTL GWAS1431633 (human)0.000003executive function measurement67194824971948250Human
597068329GWAS1164403_Hperipheral arterial disease, traffic air pollution measurement QTL GWAS1164403 (human)0.000006peripheral arterial disease, traffic air pollution measurement67190673271906733Human
597227207GWAS1323281_Hself reported educational attainment QTL GWAS1323281 (human)3e-08self reported educational attainment67217630972176310Human

Markers in Region
D6S1625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37677,831,962 - 77,832,124UniSTSGRCh37
Build 36677,888,681 - 77,888,843RGDNCBI36
Celera678,219,929 - 78,220,091RGD
Cytogenetic Map6q12-q13UniSTS
HuRef675,024,409 - 75,024,577UniSTS
Marshfield Genetic Map689.23RGD
Marshfield Genetic Map689.23UniSTS
Genethon Genetic Map689.4UniSTS
deCODE Assembly Map689.17UniSTS
GeneMap99-GB4 RH Map6337.81UniSTS
D6S430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37667,004,818 - 67,004,963UniSTSGRCh37
GRCh37667,004,838 - 67,004,963UniSTSGRCh37
GRCh37667,004,703 - 67,004,930UniSTSGRCh37
Build 36667,061,424 - 67,061,651RGDNCBI36
Celera665,168,961 - 65,169,188RGD
Celera665,169,076 - 65,169,221UniSTS
Celera665,169,096 - 65,169,221UniSTS
Cytogenetic Map6q12-q13UniSTS
HuRef664,184,869 - 64,184,974UniSTS
HuRef664,184,734 - 64,184,941UniSTS
HuRef664,184,849 - 64,184,974UniSTS
Marshfield Genetic Map681.52RGD
Marshfield Genetic Map681.52UniSTS
Genethon Genetic Map682.4UniSTS
TNG Radiation Hybrid Map631320.0UniSTS
deCODE Assembly Map681.91UniSTS
Stanford-G3 RH Map63154.0UniSTS
GeneMap99-GB4 RH Map6294.06UniSTS
Whitehead-RH Map6445.3UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6786.8UniSTS
GeneMap99-G3 RH Map63467.0UniSTS
SHGC-31710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,111,720 - 73,111,845UniSTSGRCh37
Build 36673,168,441 - 73,168,566RGDNCBI36
Celera673,505,152 - 73,505,277RGD
Cytogenetic Map6q12-q13UniSTS
HuRef670,309,965 - 70,310,090UniSTS
Stanford-G3 RH Map63331.0UniSTS
GeneMap99-GB4 RH Map6312.6UniSTS
GeneMap99-GB4 RH Map6312.94UniSTS
Whitehead-RH Map6479.4UniSTS
NCBI RH Map6837.1UniSTS
GeneMap99-G3 RH Map63644.0UniSTS
SHGC-83774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37672,761,397 - 72,761,682UniSTSGRCh37
Build 36672,818,118 - 72,818,403RGDNCBI36
Celera673,154,872 - 73,155,157RGD
Cytogenetic Map6q12-q13UniSTS
HuRef669,959,981 - 69,960,266UniSTS
TNG Radiation Hybrid Map633876.0UniSTS
SHGC-83791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37672,761,743 - 72,762,013UniSTSGRCh37
Build 36672,818,464 - 72,818,734RGDNCBI36
Celera673,155,218 - 73,155,488RGD
Cytogenetic Map6q12-q13UniSTS
HuRef669,960,327 - 69,960,597UniSTS
TNG Radiation Hybrid Map633876.0UniSTS
SHGC-85801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37672,607,695 - 72,608,029UniSTSGRCh37
Build 36672,664,416 - 72,664,750RGDNCBI36
Celera673,001,157 - 73,001,491RGD
Cytogenetic Map6q12-q13UniSTS
HuRef669,806,029 - 69,806,363UniSTS
RH123429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,019,847 - 73,020,149UniSTSGRCh37
Build 36673,076,568 - 73,076,870RGDNCBI36
Celera673,413,282 - 73,413,584RGD
Cytogenetic Map6q12-q13UniSTS
HuRef670,218,333 - 70,218,635UniSTS
TNG Radiation Hybrid Map633084.0UniSTS
RH123246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,081,706 - 73,082,041UniSTSGRCh37
Build 36673,138,427 - 73,138,762RGDNCBI36
Celera673,475,137 - 73,475,472RGD
Cytogenetic Map6q12-q13UniSTS
HuRef670,279,951 - 70,280,286UniSTS
TNG Radiation Hybrid Map633012.0UniSTS
RH36025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,111,681 - 73,111,816UniSTSGRCh37
Build 36673,168,402 - 73,168,537RGDNCBI36
Celera673,505,113 - 73,505,248RGD
Cytogenetic Map6q12-q13UniSTS
HuRef670,309,926 - 70,310,061UniSTS
GeneMap99-GB4 RH Map6309.69UniSTS
G20454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,110,650 - 73,110,774UniSTSGRCh37
Build 36673,167,371 - 73,167,495RGDNCBI36
Celera673,504,082 - 73,504,206RGD
Cytogenetic Map6q12-q13UniSTS
HuRef670,308,895 - 70,309,019UniSTS
A005R44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37673,110,650 - 73,110,774UniSTSGRCh37
Build 36673,167,371 - 73,167,495RGDNCBI36
Celera673,504,082 - 73,504,206RGD
Cytogenetic Map6q12-q13UniSTS
HuRef670,308,895 - 70,309,019UniSTS
GeneMap99-GB4 RH Map6310.82UniSTS
NCBI RH Map6839.2UniSTS
B297ZG1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37672,713,115 - 72,713,393UniSTSGRCh37
Build 36672,769,836 - 72,770,114RGDNCBI36
Celera673,106,589 - 73,106,867RGD
Cytogenetic Map6q12-q13UniSTS
HuRef669,911,698 - 69,911,976UniSTS
Whitehead-RH Map6465.8UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6820.4UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1192 2274 2745 2126 4769 1328 1875 1 350 967 190 2143 5526 5276 29 3689 630 1545 1418 167

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles