TRRAP (transformation/transcription domain associated protein) - Rat Genome Database

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Gene: TRRAP (transformation/transcription domain associated protein) Homo sapiens
Analyze
Symbol: TRRAP
Name: transformation/transcription domain associated protein
RGD ID: 1313479
HGNC Page HGNC:12347
Description: Enables transcription coregulator activity. Involved in positive regulation of double-strand break repair via homologous recombination; regulation of cell cycle; and regulation of transcription by RNA polymerase II. Located in Golgi apparatus; chromatin; and nucleoplasm. Part of SAGA complex; Swr1 complex; and transcription factor TFTC complex. Implicated in autosomal dominant nonsyndromic deafness 75.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 350/400 kDa PCAF-associated factor; DEDDFA; DFNA75; FLJ10671; PAF350/400; PAF400; STAF40; TR-AP; Tra1; tra1 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38798,878,532 - 99,013,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl798,877,933 - 99,050,831 (+)EnsemblGRCh38hg38GRCh38
GRCh37798,476,155 - 98,610,864 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36798,314,049 - 98,448,775 (+)NCBINCBI36Build 36hg18NCBI36
Build 34798,120,763 - 98,255,490NCBI
Celera793,204,993 - 93,339,694 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef793,109,006 - 93,243,743 (+)NCBIHuRef
CHM1_1798,406,555 - 98,541,284 (+)NCBICHM1_1
T2T-CHM13v2.07100,111,864 - 100,246,554 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2797,832,168 - 97,966,887 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
Abnormal cochlea morphology  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bulbous nose  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Compulsive behaviors  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Epicanthus  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Highly arched eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Lacrimal duct aplasia  (IAGP)
Laryngotracheomalacia  (IAGP)
Low-set ears  (IAGP)
Lower limb hyperreflexia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphallus  (IAGP)
Nail dysplasia  (IAGP)
Narrow nose  (IAGP)
Omphalocele  (IAGP)
Optic disc coloboma  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polymicrogyria  (IAGP)
Poor speech  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Prostate cancer  (IAGP)
Psychosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent infections  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Small nail  (IAGP)
Small scrotum  (IAGP)
Smooth philtrum  (IAGP)
Supernumerary nipple  (IAGP)
Teratoma  (IAGP)
Thin upper lip vermilion  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. ATAC-king the complexity of SAGA during evolution. Spedale G, etal., Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111.
4. The INO80 family of chromatin-remodeling enzymes: regulators of histone variant dynamics. Watanabe S and Peterson CL, Cold Spring Harb Symp Quant Biol. 2010;75:35-42. doi: 10.1101/sqb.2010.75.063. Epub 2011 Apr 18.
Additional References at PubMed
PMID:9603525   PMID:9674425   PMID:9708738   PMID:9880483   PMID:9885574   PMID:10373431   PMID:10611234   PMID:10966108   PMID:11406595   PMID:11418595   PMID:11445536   PMID:11509179  
PMID:11511539   PMID:11564863   PMID:11839798   PMID:12015309   PMID:12077335   PMID:12138177   PMID:12477932   PMID:12601814   PMID:12660246   PMID:12690205   PMID:12738788   PMID:12743606  
PMID:12853948   PMID:12897156   PMID:12963728   PMID:14702039   PMID:14966270   PMID:15115762   PMID:15302935   PMID:15647280   PMID:15649435   PMID:15711126   PMID:15870280   PMID:15899866  
PMID:15932940   PMID:16341205   PMID:16344560   PMID:16382133   PMID:16387653   PMID:16407974   PMID:16494529   PMID:16510874   PMID:16510875   PMID:16705173   PMID:17308053   PMID:17314511  
PMID:17353931   PMID:17375202   PMID:17643375   PMID:17694077   PMID:17694078   PMID:17704800   PMID:17761535   PMID:17846119   PMID:17967892   PMID:18029348   PMID:18160036   PMID:18206972  
PMID:18206973   PMID:18250150   PMID:18347063   PMID:18418385   PMID:18542057   PMID:18838386   PMID:19066453   PMID:19114550   PMID:19454010   PMID:19553677   PMID:19615732   PMID:19818711  
PMID:20070254   PMID:20085741   PMID:20203130   PMID:20332121   PMID:20371770   PMID:20379614   PMID:20427287   PMID:20508642   PMID:20534441   PMID:20850016   PMID:20937768   PMID:20943076  
PMID:20946988   PMID:21145461   PMID:21150319   PMID:21320693   PMID:21499247   PMID:21653943   PMID:21822266   PMID:21828133   PMID:21873635   PMID:22288532   PMID:22467210   PMID:22586326  
PMID:22623531   PMID:22939629   PMID:23042115   PMID:23044487   PMID:23318449   PMID:23362228   PMID:23402259   PMID:23884650   PMID:24349473   PMID:24457600   PMID:24463511   PMID:24705139  
PMID:24711643   PMID:24778252   PMID:24981860   PMID:25609649   PMID:25925205   PMID:26186194   PMID:26344197   PMID:26460568   PMID:26496610   PMID:26511642   PMID:26593974   PMID:26643866  
PMID:26949251   PMID:27153538   PMID:27248496   PMID:27320910   PMID:27542412   PMID:27601583   PMID:27634302   PMID:27637333   PMID:28218735   PMID:28263302   PMID:28481362   PMID:28514442  
PMID:28561026   PMID:28611215   PMID:29028833   PMID:29229926   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29588376   PMID:29653964   PMID:29936929   PMID:29955894   PMID:30033366  
PMID:30154076   PMID:30258100   PMID:30415952   PMID:30554943   PMID:30804394   PMID:30804502   PMID:30827496   PMID:30884312   PMID:30890647   PMID:31010829   PMID:31091453   PMID:31188495  
PMID:31240132   PMID:31281901   PMID:31353912   PMID:31478661   PMID:31527615   PMID:31586073   PMID:31753913   PMID:31871319   PMID:32140074   PMID:32416067   PMID:32694731   PMID:32707033  
PMID:32891193   PMID:33536335   PMID:33545068   PMID:33853758   PMID:33961781   PMID:34079125   PMID:34156146   PMID:34189442   PMID:34244565   PMID:34349018   PMID:34373451   PMID:34830324  
PMID:35013218   PMID:35140242   PMID:35151693   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35384245   PMID:35439318   PMID:35705031   PMID:35748872   PMID:35785414   PMID:35850772  
PMID:35906200   PMID:35915203   PMID:36089195   PMID:36215168   PMID:36708875   PMID:36736316   PMID:36774506   PMID:37047234   PMID:37682711   PMID:37827155   PMID:38280479  


Genomics

Comparative Map Data
TRRAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38798,878,532 - 99,013,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl798,877,933 - 99,050,831 (+)EnsemblGRCh38hg38GRCh38
GRCh37798,476,155 - 98,610,864 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36798,314,049 - 98,448,775 (+)NCBINCBI36Build 36hg18NCBI36
Build 34798,120,763 - 98,255,490NCBI
Celera793,204,993 - 93,339,694 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef793,109,006 - 93,243,743 (+)NCBIHuRef
CHM1_1798,406,555 - 98,541,284 (+)NCBICHM1_1
T2T-CHM13v2.07100,111,864 - 100,246,554 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2797,832,168 - 97,966,887 (+)NCBI
Trrap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395144,704,547 - 144,796,588 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5144,704,542 - 144,796,588 (+)EnsemblGRCm39 Ensembl
GRCm385144,767,737 - 144,859,778 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5144,767,732 - 144,859,778 (+)EnsemblGRCm38mm10GRCm38
MGSCv375145,529,661 - 145,620,642 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365145,021,259 - 145,113,300 (+)NCBIMGSCv36mm8
Celera5141,760,268 - 141,850,816 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map584.77NCBI
Trrap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81214,851,758 - 14,941,444 (-)NCBIGRCr8
mRatBN7.2129,738,006 - 9,827,708 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl129,738,006 - 9,827,674 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1210,540,552 - 10,630,448 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,163,764 - 11,253,661 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01210,187,607 - 10,277,241 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01211,537,950 - 11,627,563 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1211,537,950 - 11,627,563 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01213,602,590 - 13,692,085 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41210,054,055 - 10,143,736 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11210,084,790 - 10,170,560 (-)NCBI
Celera1211,542,099 - 11,631,737 (-)NCBICelera
Cytogenetic Map12p11NCBI
Trrap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546014,644,133 - 14,760,787 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546014,641,891 - 14,761,641 (+)NCBIChiLan1.0ChiLan1.0
TRRAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26116,731,559 - 116,867,814 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17164,996,204 - 165,132,451 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0790,845,518 - 90,981,700 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17104,351,320 - 104,486,720 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7104,351,320 - 104,486,722 (+)Ensemblpanpan1.1panPan2
TRRAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1610,519,734 - 10,635,175 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl610,519,711 - 10,632,776 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha612,145,756 - 12,261,165 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0610,519,773 - 10,632,776 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl610,519,797 - 10,635,242 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1610,389,520 - 10,504,779 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0610,367,972 - 10,481,129 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0610,602,017 - 10,717,277 (-)NCBIUU_Cfam_GSD_1.0
Trrap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344138,585,033 - 138,699,329 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367501,248,320 - 1,359,473 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367501,245,926 - 1,360,226 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRRAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl35,909,022 - 6,029,333 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.135,903,205 - 6,029,343 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.235,919,254 - 5,939,051 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRRAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12814,154,962 - 14,289,110 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2814,154,960 - 14,286,512 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660702,004,827 - 2,140,405 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trrap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474032,349,568 - 32,472,308 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474032,349,521 - 32,472,240 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRRAP
1603 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001375524.1(TRRAP):c.9964C>T (p.Arg3322Ter) single nucleotide variant Global developmental delay [RCV001527650] Chr7:98993654 [GRCh38]
Chr7:98591277 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1
pathogenic
NM_001244580.1(TRRAP):c.1290C>T (p.Ile430=) single nucleotide variant Malignant melanoma [RCV000068029] Chr7:98908902 [GRCh38]
Chr7:98506525 [GRCh37]
Chr7:98344461 [NCBI36]
Chr7:7q22.1
not provided
NM_001244580.1(TRRAP):c.4528G>A (p.Glu1510Lys) single nucleotide variant Malignant melanoma [RCV000068030] Chr7:98948221 [GRCh38]
Chr7:98545844 [GRCh37]
Chr7:98383780 [NCBI36]
Chr7:7q22.1
not provided
NM_001244580.1(TRRAP):c.5716C>T (p.His1906Tyr) single nucleotide variant Malignant melanoma [RCV000068031] Chr7:98955104 [GRCh38]
Chr7:98552727 [GRCh37]
Chr7:98390663 [NCBI36]
Chr7:7q22.1
not provided
NM_001244580.1(TRRAP):c.6822C>T (p.Ile2274=) single nucleotide variant Malignant melanoma [RCV000068032] Chr7:98964642 [GRCh38]
Chr7:98562265 [GRCh37]
Chr7:98400201 [NCBI36]
Chr7:7q22.1
not provided
NM_001244580.1(TRRAP):c.8331G>A (p.Ala2777=) single nucleotide variant Malignant melanoma [RCV000068033] Chr7:98977043 [GRCh38]
Chr7:98574666 [GRCh37]
Chr7:98412602 [NCBI36]
Chr7:7q22.1
not provided
NM_001244580.1(TRRAP):c.11146G>A (p.Asp3716Asn) single nucleotide variant Malignant melanoma [RCV000068034] Chr7:99011386 [GRCh38]
Chr7:98609009 [GRCh37]
Chr7:98446945 [NCBI36]
Chr7:7q22.1
not provided
NM_001244580.1(TRRAP):c.2165C>T (p.Ser722Phe) single nucleotide variant Malignant melanoma [RCV000061705] Chr7:98912179 [GRCh38]
Chr7:98509802 [GRCh37]
Chr7:98347738 [NCBI36]
Chr7:7q22.1
not provided
NM_001375524.1(TRRAP):c.7398C>T (p.Phe2466=) single nucleotide variant not provided [RCV002615227] Chr7:98967584 [GRCh38]
Chr7:98565207 [GRCh37]
Chr7:98403143 [NCBI36]
Chr7:7q22.1
likely benign|not provided
NM_001375524.1(TRRAP):c.5779G>A (p.Val1927Ile) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001291634]|not provided [RCV001863166] Chr7:98955146 [GRCh38]
Chr7:98552769 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8474A>G (p.Gln2825Arg) single nucleotide variant Malignant tumor of prostate [RCV000149152] Chr7:98978299 [GRCh38]
Chr7:98575922 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
NM_001375524.1(TRRAP):c.5621C>T (p.Pro1874Leu) single nucleotide variant not provided [RCV003314076] Chr7:98953324 [GRCh38]
Chr7:98550947 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2807A>G (p.Gln936Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002283931] Chr7:98921937 [GRCh38]
Chr7:98519560 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10028G>A (p.Arg3343Lys) single nucleotide variant not provided [RCV003239274] Chr7:98993718 [GRCh38]
Chr7:98591341 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1 copy number loss Split hand-foot malformation 1 [RCV000656540] Chr7:92445452..99686985 [GRCh37]
Chr7:7q21.2-22.1
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001375524.1(TRRAP):c.3749C>T (p.Thr1250Ile) single nucleotide variant Inborn genetic diseases [RCV001265763]|not provided [RCV000435125] Chr7:98931562 [GRCh38]
Chr7:98529185 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001375524.1(TRRAP):c.4402A>T (p.Met1468Leu) single nucleotide variant Inborn genetic diseases [RCV003255966] Chr7:98937818 [GRCh38]
Chr7:98535441 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6182C>T (p.Ser2061Phe) single nucleotide variant not provided [RCV003313692] Chr7:98956484 [GRCh38]
Chr7:98554107 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6260G>A (p.Gly2087Glu) single nucleotide variant Inborn genetic diseases [RCV003242308]|not provided [RCV003779926] Chr7:98958009 [GRCh38]
Chr7:98555632 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8806G>A (p.Val2936Met) single nucleotide variant Inborn genetic diseases [RCV003240487]|not provided [RCV003561266] Chr7:98981940 [GRCh38]
Chr7:98579563 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.11108A>G (p.Asn3703Ser) single nucleotide variant Inborn genetic diseases [RCV003290846] Chr7:99011221 [GRCh38]
Chr7:98608844 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5147G>C (p.Gly1716Ala) single nucleotide variant Inborn genetic diseases [RCV003287474] Chr7:98950075 [GRCh38]
Chr7:98547698 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3623C>A (p.Thr1208Asn) single nucleotide variant Inborn genetic diseases [RCV003261100] Chr7:98931436 [GRCh38]
Chr7:98529059 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6301A>T (p.Thr2101Ser) single nucleotide variant Inborn genetic diseases [RCV003285595]|not provided [RCV003661029] Chr7:98958050 [GRCh38]
Chr7:98555673 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1481C>T (p.Pro494Leu) single nucleotide variant not provided [RCV003312688] Chr7:98910186 [GRCh38]
Chr7:98507809 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2558_2559del (p.Val853fs) microsatellite not provided [RCV003315056] Chr7:98917609..98917610 [GRCh38]
Chr7:98515232..98515233 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11017T>C (p.Phe3673Leu) single nucleotide variant Inborn genetic diseases [RCV003266812] Chr7:99011130 [GRCh38]
Chr7:98608753 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3478G>T (p.Gly1160Cys) single nucleotide variant not provided [RCV003314100] Chr7:98930717 [GRCh38]
Chr7:98528340 [GRCh37]
Chr7:7q22.1
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
NM_001375524.1(TRRAP):c.6343-5C>T single nucleotide variant not provided [RCV001541196] Chr7:98959339 [GRCh38]
Chr7:98556962 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001375524.1(TRRAP):c.1813-126G>A single nucleotide variant not provided [RCV001540326] Chr7:98910951 [GRCh38]
Chr7:98508574 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5463+215C>G single nucleotide variant not provided [RCV001678726] Chr7:98951219 [GRCh38]
Chr7:98548842 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10213A>T (p.Met3405Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001542289]|not provided [RCV002570652] Chr7:98994752 [GRCh38]
Chr7:98592375 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6829+163T>C single nucleotide variant not provided [RCV001648468] Chr7:98962590 [GRCh38]
Chr7:98560213 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2366-13C>T single nucleotide variant not provided [RCV001690370] Chr7:98917410 [GRCh38]
Chr7:98515033 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4548+39C>T single nucleotide variant not provided [RCV001668730] Chr7:98945989 [GRCh38]
Chr7:98543612 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2616C>T (p.Leu872=) single nucleotide variant not provided [RCV000961803] Chr7:98917673 [GRCh38]
Chr7:98515296 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10624T>C (p.Tyr3542His) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001706863] Chr7:99005219 [GRCh38]
Chr7:98602842 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10684C>G (p.Leu3562Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003315145] Chr7:99005279 [GRCh38]
Chr7:98602902 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8126T>C (p.Leu2709Pro) single nucleotide variant not provided [RCV001550823] Chr7:98976649 [GRCh38]
Chr7:98574272 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2975+36A>T single nucleotide variant not provided [RCV001691344] Chr7:98925299 [GRCh38]
Chr7:98522922 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4669-34G>A single nucleotide variant not provided [RCV001691513] Chr7:98948532 [GRCh38]
Chr7:98546155 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.508-60G>T single nucleotide variant not provided [RCV001611965] Chr7:98897681 [GRCh38]
Chr7:98495304 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6759C>T (p.Val2253=) single nucleotide variant TRRAP-related disorder [RCV004550029]|not provided [RCV000885193] Chr7:98962357 [GRCh38]
Chr7:98559980 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2975+10C>T single nucleotide variant not provided [RCV000972771] Chr7:98925273 [GRCh38]
Chr7:98522896 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9291C>A (p.Gly3097=) single nucleotide variant not provided [RCV000883248] Chr7:98984946 [GRCh38]
Chr7:98582569 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1524A>C (p.Pro508=) single nucleotide variant not provided [RCV000948781] Chr7:98910229 [GRCh38]
Chr7:98507852 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1530G>C (p.Pro510=) single nucleotide variant not provided [RCV000948782] Chr7:98910235 [GRCh38]
Chr7:98507858 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5889C>T (p.Thr1963=) single nucleotide variant not provided [RCV000948783] Chr7:98955256 [GRCh38]
Chr7:98552879 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7437G>A (p.Glu2479=) single nucleotide variant not provided [RCV000936930] Chr7:98967623 [GRCh38]
Chr7:98565246 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8634+7C>T single nucleotide variant TRRAP-related disorder [RCV004553499]|not provided [RCV000973136] Chr7:98978911 [GRCh38]
Chr7:98576534 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11031G>T (p.Thr3677=) single nucleotide variant not provided [RCV000899667] Chr7:99011144 [GRCh38]
Chr7:98608767 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3798G>A (p.Val1266=) single nucleotide variant not provided [RCV000883079] Chr7:98931611 [GRCh38]
Chr7:98529234 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001375524.1(TRRAP):c.1809T>C (p.Tyr603=) single nucleotide variant not provided [RCV000970674] Chr7:98910604 [GRCh38]
Chr7:98508227 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1569C>T (p.Pro523=) single nucleotide variant not provided [RCV000897094] Chr7:98910274 [GRCh38]
Chr7:98507897 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4653G>T (p.Arg1551=) single nucleotide variant not provided [RCV000969525] Chr7:98948325 [GRCh38]
Chr7:98545948 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2433C>T (p.Leu811=) single nucleotide variant not provided [RCV000886648] Chr7:98917490 [GRCh38]
Chr7:98515113 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6145G>A (p.Val2049Ile) single nucleotide variant TRRAP-related disorder [RCV004551700]|not provided [RCV000898162] Chr7:98956447 [GRCh38]
Chr7:98554070 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8415T>C (p.Asp2805=) single nucleotide variant TRRAP-related disorder [RCV004551678]|not provided [RCV000894444] Chr7:98978240 [GRCh38]
Chr7:98575863 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7524C>T (p.Ala2508=) single nucleotide variant not provided [RCV000927271] Chr7:98970123 [GRCh38]
Chr7:98567746 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4233+11_4233+22dup duplication not provided [RCV000971759] Chr7:98937283..98937284 [GRCh38]
Chr7:98534906..98534907 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5305C>T (p.Pro1769Ser) single nucleotide variant Inborn genetic diseases [RCV003271214] Chr7:98950233 [GRCh38]
Chr7:98547856 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2413C>T (p.Leu805Phe) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV000785653] Chr7:98917470 [GRCh38]
Chr7:98515093 [GRCh37]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV000785654] Chr7:98927318 [GRCh38]
Chr7:98524941 [GRCh37]
Chr7:7q22.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.5617T>A (p.Trp1873Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV000785655] Chr7:98953320 [GRCh38]
Chr7:98550943 [GRCh37]
Chr7:7q22.1
pathogenic
GRCh37/hg19 7q22.1(chr7:98373794-98676268)x3 copy number gain not provided [RCV000847858] Chr7:98373794..98676268 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5619G>T (p.Trp1873Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV000785656] Chr7:98953322 [GRCh38]
Chr7:98550945 [GRCh37]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.101-9C>T single nucleotide variant not provided [RCV000916773] Chr7:98881966 [GRCh38]
Chr7:98479589 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6032G>A (p.Arg2011Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV000785652]|not provided [RCV002535730] Chr7:98956240 [GRCh38]
Chr7:98553863 [GRCh37]
Chr7:7q22.1
pathogenic|uncertain significance
NM_001375524.1(TRRAP):c.9129C>T (p.Ile3043=) single nucleotide variant not provided [RCV000891605] Chr7:98984199 [GRCh38]
Chr7:98581822 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8738G>A (p.Arg2913His) single nucleotide variant Hearing loss, autosomal dominant 75 [RCV001250565] Chr7:98981872 [GRCh38]
Chr7:98579495 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3316G>A (p.Glu1106Lys) single nucleotide variant Neurodevelopmental disorder [RCV000850613] Chr7:98930129 [GRCh38]
Chr7:98527752 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.2244G>T (p.Gln748His) single nucleotide variant Inborn genetic diseases [RCV003273830] Chr7:98915767 [GRCh38]
Chr7:98513390 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5557C>G (p.His1853Asp) single nucleotide variant not provided [RCV003313604] Chr7:98953260 [GRCh38]
Chr7:98550883 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001250480]|Developmental delay with or without dysmorphic facies and autism [RCV002464419] Chr7:98953416 [GRCh38]
Chr7:98551039 [GRCh37]
Chr7:7q22.1
likely pathogenic|uncertain significance
NC_000007.13:g.(?_98478774)_(98779708_?)dup duplication not provided [RCV003105579] Chr7:98478774..98779708 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2667C>T (p.His889=) single nucleotide variant not provided [RCV003105105] Chr7:98921797 [GRCh38]
Chr7:98519420 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1140C>T (p.Ala380=) single nucleotide variant not provided [RCV003105020] Chr7:98908752 [GRCh38]
Chr7:98506375 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7358G>C (p.Gly2453Ala) single nucleotide variant Inborn genetic diseases [RCV003291484] Chr7:98967544 [GRCh38]
Chr7:98565167 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3409_3410del (p.Leu1137fs) deletion not provided [RCV003127096] Chr7:98930648..98930649 [GRCh38]
Chr7:98528271..98528272 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3146A>C (p.Tyr1049Ser) single nucleotide variant not provided [RCV003233125] Chr7:98927337 [GRCh38]
Chr7:98524960 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10077G>A (p.Ala3359=) single nucleotide variant not provided [RCV003104986] Chr7:98994616 [GRCh38]
Chr7:98592239 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1164G>A (p.Gln388=) single nucleotide variant not provided [RCV003106960] Chr7:98908776 [GRCh38]
Chr7:98506399 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5938-28dup duplication not provided [RCV001641220] Chr7:98956116..98956117 [GRCh38]
Chr7:98553739..98553740 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2108A>G (p.Asn703Ser) single nucleotide variant Inborn genetic diseases [RCV003240463]|not provided [RCV003434734] Chr7:98912122 [GRCh38]
Chr7:98509745 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.10536-115G>A single nucleotide variant not provided [RCV001715070] Chr7:99005016 [GRCh38]
Chr7:98602639 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.508-62_508-61dup duplication not provided [RCV001655124] Chr7:98897676..98897677 [GRCh38]
Chr7:98495299..98495300 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1115+148TTTA[8] microsatellite not provided [RCV001619129] Chr7:98906403..98906414 [GRCh38]
Chr7:98504026..98504037 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10753+19G>C single nucleotide variant not provided [RCV001695727] Chr7:99005367 [GRCh38]
Chr7:98602990 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9419C>T (p.Ala3140Val) single nucleotide variant not provided [RCV001591470] Chr7:98988794 [GRCh38]
Chr7:98586417 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8993T>C (p.Ile2998Thr) single nucleotide variant not provided [RCV001576681] Chr7:98983430 [GRCh38]
Chr7:98581053 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2008-95G>C single nucleotide variant not provided [RCV001679795] Chr7:98911927 [GRCh38]
Chr7:98509550 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7840-141G>T single nucleotide variant not provided [RCV001672121] Chr7:98976008 [GRCh38]
Chr7:98573631 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1115+145_1115+154del deletion not provided [RCV001652048] Chr7:98906397..98906406 [GRCh38]
Chr7:98504020..98504029 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.150+60G>A single nucleotide variant not provided [RCV001710898] Chr7:98882084 [GRCh38]
Chr7:98479707 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10939-69T>A single nucleotide variant not provided [RCV001710695] Chr7:99010983 [GRCh38]
Chr7:98608606 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9756+14G>T single nucleotide variant not provided [RCV001696482] Chr7:98990633 [GRCh38]
Chr7:98588256 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5464-135TG[21] microsatellite not provided [RCV001621186] Chr7:98953032..98953037 [GRCh38]
Chr7:98550655..98550660 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9023-204C>A single nucleotide variant not provided [RCV001657270] Chr7:98983889 [GRCh38]
Chr7:98581512 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7298+10G>A single nucleotide variant not provided [RCV000983481] Chr7:98967172 [GRCh38]
Chr7:98564795 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.150+8C>T single nucleotide variant not provided [RCV000975160] Chr7:98882032 [GRCh38]
Chr7:98479655 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3501C>G (p.Leu1167=) single nucleotide variant not provided [RCV000931697] Chr7:98930740 [GRCh38]
Chr7:98528363 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1570G>A (p.Val524Met) single nucleotide variant not provided [RCV000886647] Chr7:98910275 [GRCh38]
Chr7:98507898 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4080G>C (p.Pro1360=) single nucleotide variant not provided [RCV000879846] Chr7:98935644 [GRCh38]
Chr7:98533267 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7839+9G>A single nucleotide variant TRRAP-related disorder [RCV004553436]|not provided [RCV000959674] Chr7:98971954 [GRCh38]
Chr7:98569577 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6528G>A (p.Thr2176=) single nucleotide variant TRRAP-related disorder [RCV004550025]|not provided [RCV000884660] Chr7:98961299 [GRCh38]
Chr7:98558922 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1518A>C (p.Pro506=) single nucleotide variant not provided [RCV000954109] Chr7:98910223 [GRCh38]
Chr7:98507846 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1521T>C (p.Pro507=) single nucleotide variant not provided [RCV000954110] Chr7:98910226 [GRCh38]
Chr7:98507849 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1536A>C (p.Pro512=) single nucleotide variant not provided [RCV000954111] Chr7:98910241 [GRCh38]
Chr7:98507864 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1905C>T (p.Phe635=) single nucleotide variant not provided [RCV000910478] Chr7:98911169 [GRCh38]
Chr7:98508792 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.7644T>C (p.His2548=) single nucleotide variant not provided [RCV000910479] Chr7:98970243 [GRCh38]
Chr7:98567866 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.5938-8G>T single nucleotide variant not provided [RCV000912360] Chr7:98956138 [GRCh38]
Chr7:98553761 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9642C>T (p.Ala3214=) single nucleotide variant not provided [RCV000933670] Chr7:98990505 [GRCh38]
Chr7:98588128 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6330C>A (p.Arg2110=) single nucleotide variant not provided [RCV000911540] Chr7:98958079 [GRCh38]
Chr7:98555702 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7512+7A>G single nucleotide variant not provided [RCV000956507] Chr7:98967705 [GRCh38]
Chr7:98565328 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11235C>G (p.Leu3745=) single nucleotide variant not provided [RCV000956508] Chr7:99011433 [GRCh38]
Chr7:98609056 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5774C>T (p.Ala1925Val) single nucleotide variant not provided [RCV002967453] Chr7:98955141 [GRCh38]
Chr7:98552764 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4233+47_4233+48del deletion not provided [RCV001594648] Chr7:98937324..98937325 [GRCh38]
Chr7:98534947..98534948 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3079A>T (p.Met1027Leu) single nucleotide variant not provided [RCV001569805] Chr7:98927270 [GRCh38]
Chr7:98524893 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5464-135TG[8] microsatellite not provided [RCV001676983] Chr7:98953032..98953063 [GRCh38]
Chr7:98550655..98550686 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5937+2T>C single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002470539] Chr7:98955306 [GRCh38]
Chr7:98552929 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9023-3T>C single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002470593] Chr7:98984090 [GRCh38]
Chr7:98581713 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1688G>T (p.Gly563Val) single nucleotide variant not provided [RCV003235995] Chr7:98910393 [GRCh38]
Chr7:98508016 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11085C>A (p.Phe3695Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002470421] Chr7:99011198 [GRCh38]
Chr7:98608821 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.364G>C (p.Glu122Gln) single nucleotide variant not provided [RCV003231743] Chr7:98892526 [GRCh38]
Chr7:98490149 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6829+177T>C single nucleotide variant not provided [RCV001688930] Chr7:98962604 [GRCh38]
Chr7:98560227 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4900G>C (p.Gly1634Arg) single nucleotide variant not specified [RCV003230990] Chr7:98949528 [GRCh38]
Chr7:98547151 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.634-3C>T single nucleotide variant See cases [RCV002252464]|TRRAP-related disorder [RCV004548245]|not provided [RCV003101386] Chr7:98899419 [GRCh38]
Chr7:98497042 [GRCh37]
Chr7:7q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.8090C>G (p.Pro2697Arg) single nucleotide variant See cases [RCV002252838] Chr7:98976613 [GRCh38]
Chr7:98574236 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1037-91del deletion not provided [RCV001641091] Chr7:98906085 [GRCh38]
Chr7:98503708 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3874C>A (p.Pro1292Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002465396] Chr7:98933262 [GRCh38]
Chr7:98530885 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.10216T>A (p.Phe3406Ile) single nucleotide variant not provided [RCV003231879] Chr7:98994755 [GRCh38]
Chr7:98592378 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2622+198T>G single nucleotide variant not provided [RCV001596724] Chr7:98917877 [GRCh38]
Chr7:98515500 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3874C>T (p.Pro1292Ser) single nucleotide variant Inborn genetic diseases [RCV003253022] Chr7:98933262 [GRCh38]
Chr7:98530885 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10243G>C (p.Ala3415Pro) single nucleotide variant not provided [RCV002469701] Chr7:98994782 [GRCh38]
Chr7:98592405 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7635G>C (p.Met2545Ile) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002471694] Chr7:98970234 [GRCh38]
Chr7:98567857 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5726T>G (p.Leu1909Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002472193] Chr7:98953429 [GRCh38]
Chr7:98551052 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.6829+193C>T single nucleotide variant not provided [RCV001655158] Chr7:98962620 [GRCh38]
Chr7:98560243 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5730+96C>T single nucleotide variant not provided [RCV001684820] Chr7:98953529 [GRCh38]
Chr7:98551152 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4015-15T>G single nucleotide variant not provided [RCV001674458] Chr7:98935564 [GRCh38]
Chr7:98533187 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3393+89G>A single nucleotide variant not provided [RCV001687434] Chr7:98930295 [GRCh38]
Chr7:98527918 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5463+56TG[21] microsatellite not provided [RCV001654581] Chr7:98951059..98951060 [GRCh38]
Chr7:98548682..98548683 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5463+56TG[19] microsatellite not provided [RCV001621708] Chr7:98951059..98951060 [GRCh38]
Chr7:98548682..98548683 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9022+113G>T single nucleotide variant not provided [RCV001620097] Chr7:98983572 [GRCh38]
Chr7:98581195 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4233+20T>A single nucleotide variant not provided [RCV001639390] Chr7:98937297 [GRCh38]
Chr7:98534920 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.898-46C>T single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001838808]|Hearing loss, autosomal dominant 75 [RCV001838809]|not provided [RCV001696673] Chr7:98903333 [GRCh38]
Chr7:98500956 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2975+77T>G single nucleotide variant not provided [RCV001721636] Chr7:98925340 [GRCh38]
Chr7:98522963 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7176+108A>G single nucleotide variant not provided [RCV001693707] Chr7:98966003 [GRCh38]
Chr7:98563626 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2824-113C>T single nucleotide variant not provided [RCV001658426] Chr7:98924999 [GRCh38]
Chr7:98522622 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.-61-33A>G single nucleotide variant not provided [RCV001598458] Chr7:98881057 [GRCh38]
Chr7:98478680 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.367-160T>C single nucleotide variant not provided [RCV001657092] Chr7:98893638 [GRCh38]
Chr7:98491261 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5463+56TG[16] microsatellite not provided [RCV001715445] Chr7:98951060..98951061 [GRCh38]
Chr7:98548683..98548684 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8827-226A>G single nucleotide variant not provided [RCV001598928] Chr7:98983038 [GRCh38]
Chr7:98580661 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6342+229dup duplication not provided [RCV001674042] Chr7:98958309..98958310 [GRCh38]
Chr7:98555932..98555933 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2638T>G (p.Leu880Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001253132] Chr7:98921768 [GRCh38]
Chr7:98519391 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3626C>T (p.Thr1209Met) single nucleotide variant not provided [RCV001092655] Chr7:98931439 [GRCh38]
Chr7:98529062 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3904G>A (p.Ala1302Thr) single nucleotide variant not provided [RCV001171573] Chr7:98933292 [GRCh38]
Chr7:98530915 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6972C>T (p.Thr2324=) single nucleotide variant not provided [RCV001092656] Chr7:98964771 [GRCh38]
Chr7:98562394 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.6490-4G>C single nucleotide variant not provided [RCV001707231] Chr7:98961257 [GRCh38]
Chr7:98558880 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.898-160A>G single nucleotide variant not provided [RCV001609696] Chr7:98903219 [GRCh38]
Chr7:98500842 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.711+84C>G single nucleotide variant not provided [RCV001694412] Chr7:98899583 [GRCh38]
Chr7:98497206 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8385+131C>G single nucleotide variant not provided [RCV001710651] Chr7:98977207 [GRCh38]
Chr7:98574830 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1115+148TTTA[10] microsatellite not provided [RCV001709805] Chr7:98906403..98906406 [GRCh38]
Chr7:98504026..98504029 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.552G>C (p.Val184=) single nucleotide variant not provided [RCV001610010] Chr7:98897785 [GRCh38]
Chr7:98495408 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3252G>A (p.Ser1084=) single nucleotide variant not provided [RCV001694443] Chr7:98930065 [GRCh38]
Chr7:98527688 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2975+7C>T single nucleotide variant not provided [RCV001610126] Chr7:98925270 [GRCh38]
Chr7:98522893 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5463+56TG[22] microsatellite not provided [RCV001708966] Chr7:98951059..98951060 [GRCh38]
Chr7:98548682..98548683 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3128C>T (p.Ala1043Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001090026] Chr7:98927319 [GRCh38]
Chr7:98524942 [GRCh37]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.2199+187del deletion not provided [RCV001693029] Chr7:98912388 [GRCh38]
Chr7:98510011 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4788+45T>G single nucleotide variant not provided [RCV001652531] Chr7:98948730 [GRCh38]
Chr7:98546353 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2200-46C>T single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001838764]|Hearing loss, autosomal dominant 75 [RCV001838765]|not provided [RCV001684080] Chr7:98915677 [GRCh38]
Chr7:98513300 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6977-175T>C single nucleotide variant not provided [RCV001695103] Chr7:98965521 [GRCh38]
Chr7:98563144 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys) single nucleotide variant Hearing loss, autosomal dominant 75 [RCV001003467]|not provided [RCV002549212]|not specified [RCV002249616] Chr7:98897744 [GRCh38]
Chr7:98495367 [GRCh37]
Chr7:7q22.1
pathogenic|benign|likely benign
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001264725]|not provided [RCV003321818] Chr7:98953299 [GRCh38]
Chr7:98550922 [GRCh37]
Chr7:7q22.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001252382]|Developmental delay with or without dysmorphic facies and autism [RCV002504375] Chr7:98993642 [GRCh38]
Chr7:98591265 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.7857C>T (p.Ser2619=) single nucleotide variant not provided [RCV003106809] Chr7:98976166 [GRCh38]
Chr7:98573789 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu) single nucleotide variant Autism [RCV001256072] Chr7:98956451 [GRCh38]
Chr7:98554074 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3103C>G (p.Arg1035Gly) single nucleotide variant Global developmental delay [RCV001255411] Chr7:98927294 [GRCh38]
Chr7:98524917 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.3251C>T (p.Ser1084Leu) single nucleotide variant Inborn genetic diseases [RCV001265834] Chr7:98930064 [GRCh38]
Chr7:98527687 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7q22.1(chr7:98277871-98483457)x3 copy number gain not provided [RCV001258812] Chr7:98277871..98483457 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10534C>T (p.Arg3512Trp) single nucleotide variant Inborn genetic diseases [RCV001266516]|not provided [RCV002537690] Chr7:99004414 [GRCh38]
Chr7:98602037 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10841G>A (p.Arg3614His) single nucleotide variant Inborn genetic diseases [RCV001266693] Chr7:99008464 [GRCh38]
Chr7:98606087 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6377G>A (p.Gly2126Glu) single nucleotide variant not provided [RCV002280260] Chr7:98959378 [GRCh38]
Chr7:98557001 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3464A>C (p.Tyr1155Ser) single nucleotide variant not provided [RCV002280029] Chr7:98930703 [GRCh38]
Chr7:98528326 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.104A>G (p.Asp35Gly) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001262684] Chr7:98881978 [GRCh38]
Chr7:98479601 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7558T>C (p.Cys2520Arg) single nucleotide variant TRRAP-related neurodevelopmental disorder [RCV001270851] Chr7:98970157 [GRCh38]
Chr7:98567780 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6256C>T (p.Pro2086Ser) single nucleotide variant Inborn genetic diseases [RCV001267417] Chr7:98958005 [GRCh38]
Chr7:98555628 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5597GCC[3] (p.Arg1867dup) microsatellite Inborn genetic diseases [RCV001267452] Chr7:98953298..98953299 [GRCh38]
Chr7:98550921..98550922 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2344C>G (p.Leu782Val) single nucleotide variant Inborn genetic diseases [RCV001267623] Chr7:98915867 [GRCh38]
Chr7:98513490 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3788C>T (p.Ser1263Leu) single nucleotide variant Inborn genetic diseases [RCV001266530] Chr7:98931601 [GRCh38]
Chr7:98529224 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2374A>G (p.Met792Val) single nucleotide variant Inborn genetic diseases [RCV001266694] Chr7:98917431 [GRCh38]
Chr7:98515054 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1010A>G (p.His337Arg) single nucleotide variant Inborn genetic diseases [RCV001266744] Chr7:98903491 [GRCh38]
Chr7:98501114 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3145T>A (p.Tyr1049Asn) single nucleotide variant Inborn genetic diseases [RCV001266745] Chr7:98927336 [GRCh38]
Chr7:98524959 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10819C>T (p.Leu3607Phe) single nucleotide variant Inborn genetic diseases [RCV001266918] Chr7:99008442 [GRCh38]
Chr7:98606065 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11006C>T (p.Ala3669Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001329707] Chr7:99011119 [GRCh38]
Chr7:98608742 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7083C>T (p.Leu2361=) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001329710] Chr7:98965802 [GRCh38]
Chr7:98563425 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3311A>G (p.Glu1104Gly) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001329708]|not provided [RCV003328674] Chr7:98930124 [GRCh38]
Chr7:98527747 [GRCh37]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.550G>A (p.Val184Met) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001329709]|not provided [RCV003688936] Chr7:98897783 [GRCh38]
Chr7:98495406 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4652G>A (p.Arg1551Gln) single nucleotide variant not provided [RCV001358185] Chr7:98948324 [GRCh38]
Chr7:98545947 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1340G>A (p.Arg447Gln) single nucleotide variant TRRAP-related neurodevelopmental disorder [RCV001270850]|not provided [RCV003727969] Chr7:98908952 [GRCh38]
Chr7:98506575 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1
pathogenic
NM_001375524.1(TRRAP):c.8410A>C (p.Met2804Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001329711] Chr7:98978235 [GRCh38]
Chr7:98575858 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3475G>A (p.Gly1159Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001280855] Chr7:98930714 [GRCh38]
Chr7:98528337 [GRCh37]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.6872G>A (p.Ser2291Asn) single nucleotide variant Inborn genetic diseases [RCV002547612]|not provided [RCV001355623] Chr7:98964671 [GRCh38]
Chr7:98562294 [GRCh37]
Chr7:7q22.1
benign|likely benign|uncertain significance
NM_001375524.1(TRRAP):c.1206C>T (p.Phe402=) single nucleotide variant not provided [RCV001540216] Chr7:98908818 [GRCh38]
Chr7:98506441 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3088G>A (p.Val1030Ile) single nucleotide variant not provided [RCV001379115] Chr7:98927279 [GRCh38]
Chr7:98524902 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.10310-181G>A single nucleotide variant not provided [RCV001534168] Chr7:99004009 [GRCh38]
Chr7:98601632 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9756+160A>G single nucleotide variant not provided [RCV001714910] Chr7:98990779 [GRCh38]
Chr7:98588402 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.897+163T>C single nucleotide variant not provided [RCV001670607] Chr7:98900883 [GRCh38]
Chr7:98498506 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6703+144T>A single nucleotide variant not provided [RCV001690767] Chr7:98961618 [GRCh38]
Chr7:98559241 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10753+139G>A single nucleotide variant not provided [RCV001698719] Chr7:99005487 [GRCh38]
Chr7:98603110 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5463+56TG[20] microsatellite not provided [RCV001538571] Chr7:98951059..98951060 [GRCh38]
Chr7:98548682..98548683 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10536-40G>T single nucleotide variant not provided [RCV001649857] Chr7:99005091 [GRCh38]
Chr7:98602714 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9592-88A>G single nucleotide variant not provided [RCV001713764] Chr7:98990367 [GRCh38]
Chr7:98587990 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4789-141G>C single nucleotide variant not provided [RCV001671985] Chr7:98949276 [GRCh38]
Chr7:98546899 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7692+103C>T single nucleotide variant not provided [RCV001654254] Chr7:98970394 [GRCh38]
Chr7:98568017 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3140G>A (p.Arg1047His) single nucleotide variant not provided [RCV001377081] Chr7:98927331 [GRCh38]
Chr7:98524954 [GRCh37]
Chr7:7q22.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.6691C>G (p.Pro2231Ala) single nucleotide variant not provided [RCV001756339] Chr7:98961462 [GRCh38]
Chr7:98559085 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6424C>T (p.Arg2142Trp) single nucleotide variant Inborn genetic diseases [RCV004047370]|not specified [RCV002248915] Chr7:98959425 [GRCh38]
Chr7:98557048 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3199C>T (p.Gln1067Ter) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002249192] Chr7:98930012 [GRCh38]
Chr7:98527635 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.5499C>A (p.Asp1833Glu) single nucleotide variant not provided [RCV003108994] Chr7:98953202 [GRCh38]
Chr7:98550825 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.5513A>C (p.Tyr1838Ser) single nucleotide variant not provided [RCV003108995] Chr7:98953216 [GRCh38]
Chr7:98550839 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.9153T>C (p.Asn3051=) single nucleotide variant not provided [RCV003108996] Chr7:98984223 [GRCh38]
Chr7:98581846 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8826+8C>T single nucleotide variant not provided [RCV003108560] Chr7:98981968 [GRCh38]
Chr7:98579591 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8226G>C (p.Glu2742Asp) single nucleotide variant not provided [RCV003108275] Chr7:98976749 [GRCh38]
Chr7:98574372 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.507+6T>G single nucleotide variant not provided [RCV003108742] Chr7:98895826 [GRCh38]
Chr7:98493449 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9024G>A (p.Ala3008=) single nucleotide variant not provided [RCV003108811] Chr7:98984094 [GRCh38]
Chr7:98581717 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1088C>T (p.Ser363Leu) single nucleotide variant not provided [RCV001754742] Chr7:98906228 [GRCh38]
Chr7:98503851 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.367A>G (p.Thr123Ala) single nucleotide variant not provided [RCV003108937] Chr7:98893798 [GRCh38]
Chr7:98491421 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7187T>C (p.Leu2396Pro) single nucleotide variant not provided [RCV001754730] Chr7:98967051 [GRCh38]
Chr7:98564674 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8555G>T (p.Gly2852Val) single nucleotide variant not provided [RCV002273486] Chr7:98978825 [GRCh38]
Chr7:98576448 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2596C>T (p.Gln866Ter) single nucleotide variant not provided [RCV001763177] Chr7:98917653 [GRCh38]
Chr7:98515276 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4405-5A>G single nucleotide variant TRRAP-related disorder [RCV004552014]|not provided [RCV001773255] Chr7:98942944 [GRCh38]
Chr7:98540567 [GRCh37]
Chr7:7q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.3103C>T (p.Arg1035Trp) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001771808] Chr7:98927294 [GRCh38]
Chr7:98524917 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9356C>G (p.Ala3119Gly) single nucleotide variant See cases [RCV002252552] Chr7:98985011 [GRCh38]
Chr7:98582634 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10845C>T (p.Cys3615=) single nucleotide variant not provided [RCV002084531] Chr7:99008468 [GRCh38]
Chr7:98606091 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1082T>C (p.Ile361Thr) single nucleotide variant not provided [RCV001758456] Chr7:98906222 [GRCh38]
Chr7:98503845 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1327G>A (p.Asp443Asn) single nucleotide variant TRRAP-related disorder [RCV001825026]|not provided [RCV001763751] Chr7:98908939 [GRCh38]
Chr7:98506562 [GRCh37]
Chr7:7q22.1
uncertain significance|not provided
NM_001375524.1(TRRAP):c.5498A>G (p.Asp1833Gly) single nucleotide variant TRRAP-related disorder [RCV001825025]|not provided [RCV001763749] Chr7:98953201 [GRCh38]
Chr7:98550824 [GRCh37]
Chr7:7q22.1
uncertain significance|not provided
NM_001375524.1(TRRAP):c.4655C>T (p.Ala1552Val) single nucleotide variant not provided [RCV001754440] Chr7:98948327 [GRCh38]
Chr7:98545950 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3647G>A (p.Arg1216Gln) single nucleotide variant not provided [RCV001767168] Chr7:98931460 [GRCh38]
Chr7:98529083 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11191G>A (p.Ala3731Thr) single nucleotide variant TRRAP-related disorder [RCV004552002]|not provided [RCV001767169] Chr7:99011389 [GRCh38]
Chr7:98609012 [GRCh37]
Chr7:7q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.5978T>C (p.Val1993Ala) single nucleotide variant not provided [RCV001754263] Chr7:98956186 [GRCh38]
Chr7:98553809 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11510A>G (p.His3837Arg) single nucleotide variant not provided [RCV001764104] Chr7:99012243 [GRCh38]
Chr7:98609866 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.52A>C (p.Met18Leu) single nucleotide variant not provided [RCV001786822] Chr7:98881202 [GRCh38]
Chr7:98478825 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11563G>A (p.Ala3855Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001785363] Chr7:99012296 [GRCh38]
Chr7:98609919 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2698G>A (p.Gly900Ser) single nucleotide variant not provided [RCV001771609]|not specified [RCV003994325] Chr7:98921828 [GRCh38]
Chr7:98519451 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3529C>T (p.Leu1177Phe) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001788852]|Inborn genetic diseases [RCV002541258] Chr7:98930768 [GRCh38]
Chr7:98528391 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9113T>G (p.Ile3038Ser) single nucleotide variant not provided [RCV001763848] Chr7:98984183 [GRCh38]
Chr7:98581806 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7996G>A (p.Gly2666Ser) single nucleotide variant not provided [RCV001765565] Chr7:98976519 [GRCh38]
Chr7:98574142 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10844G>C (p.Cys3615Ser) single nucleotide variant not provided [RCV001763858] Chr7:99008467 [GRCh38]
Chr7:98606090 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4967T>C (p.Ile1656Thr) single nucleotide variant not provided [RCV001767875] Chr7:98949673 [GRCh38]
Chr7:98547296 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6085A>G (p.Lys2029Glu) single nucleotide variant not provided [RCV001774600] Chr7:98956293 [GRCh38]
Chr7:98553916 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2465C>T (p.Pro822Leu) single nucleotide variant See cases [RCV003232403]|not provided [RCV001767464] Chr7:98917522 [GRCh38]
Chr7:98515145 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8206A>G (p.Thr2736Ala) single nucleotide variant not provided [RCV001767672] Chr7:98976729 [GRCh38]
Chr7:98574352 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.822G>T (p.Lys274Asn) single nucleotide variant not provided [RCV001773202] Chr7:98900645 [GRCh38]
Chr7:98498268 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1274A>G (p.Asn425Ser) single nucleotide variant not provided [RCV001768844] Chr7:98908886 [GRCh38]
Chr7:98506509 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001775301]|not provided [RCV002272495] Chr7:98927295 [GRCh38]
Chr7:98524918 [GRCh37]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.8255T>G (p.Leu2752Arg) single nucleotide variant not provided [RCV001752366] Chr7:98976946 [GRCh38]
Chr7:98574569 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2305G>A (p.Gly769Arg) single nucleotide variant not provided [RCV001765916] Chr7:98915828 [GRCh38]
Chr7:98513451 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8951G>A (p.Arg2984Gln) single nucleotide variant not provided [RCV001761371] Chr7:98983388 [GRCh38]
Chr7:98581011 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3044G>T (p.Arg1015Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001809040] Chr7:98927235 [GRCh38]
Chr7:98524858 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8439G>T (p.Arg2813Ser) single nucleotide variant not provided [RCV001814940] Chr7:98978264 [GRCh38]
Chr7:98575887 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8927C>T (p.Thr2976Met) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001771790]|not provided [RCV003565490] Chr7:98983364 [GRCh38]
Chr7:98580987 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6605G>A (p.Arg2202His) single nucleotide variant not provided [RCV001762951] Chr7:98961376 [GRCh38]
Chr7:98558999 [GRCh37]
Chr7:7q22.1
uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001375524.1(TRRAP):c.79G>C (p.Ala27Pro) single nucleotide variant not provided [RCV001787565] Chr7:98881229 [GRCh38]
Chr7:98478852 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1187C>T (p.Ser396Phe) single nucleotide variant not provided [RCV001786936] Chr7:98908799 [GRCh38]
Chr7:98506422 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3093T>G (p.Ile1031Met) single nucleotide variant TRRAP-related neurodevelopmental disorder [RCV001797038] Chr7:98927284 [GRCh38]
Chr7:98524907 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.9911C>T (p.Pro3304Leu) single nucleotide variant not provided [RCV001797368] Chr7:98993601 [GRCh38]
Chr7:98591224 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.3068C>T (p.Thr1023Ile) single nucleotide variant not provided [RCV001758757] Chr7:98927259 [GRCh38]
Chr7:98524882 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.772A>G (p.Ile258Val) single nucleotide variant not provided [RCV001761065] Chr7:98899739 [GRCh38]
Chr7:98497362 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4193A>G (p.Asn1398Ser) single nucleotide variant not provided [RCV001758797] Chr7:98937237 [GRCh38]
Chr7:98534860 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.770C>G (p.Thr257Ser) single nucleotide variant not provided [RCV001814778] Chr7:98899737 [GRCh38]
Chr7:98497360 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.59A>G (p.Lys20Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001809041] Chr7:98881209 [GRCh38]
Chr7:98478832 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.450+859A>G single nucleotide variant not provided [RCV001814870] Chr7:98894740 [GRCh38]
Chr7:98492363 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9022+33T>C single nucleotide variant not provided [RCV001814658] Chr7:98983492 [GRCh38]
Chr7:98581115 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6593A>G (p.Lys2198Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001809042] Chr7:98961364 [GRCh38]
Chr7:98558987 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4464C>T (p.Ser1488=) single nucleotide variant not provided [RCV001814802] Chr7:98943008 [GRCh38]
Chr7:98540631 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10948G>A (p.Asp3650Asn) single nucleotide variant not provided [RCV001806926] Chr7:99011061 [GRCh38]
Chr7:98608684 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8870A>G (p.Asn2957Ser) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001808186]|not provided [RCV002542432] Chr7:98983307 [GRCh38]
Chr7:98580930 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.2678G>A (p.Arg893His) single nucleotide variant not provided [RCV001814710] Chr7:98921808 [GRCh38]
Chr7:98519431 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9529A>C (p.Thr3177Pro) single nucleotide variant not provided [RCV001814747] Chr7:98988904 [GRCh38]
Chr7:98586527 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4014+4_4014+5insT insertion not provided [RCV001806571] Chr7:98933406..98933407 [GRCh38]
Chr7:98531029..98531030 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7187_7189del (p.Leu2396del) deletion not provided [RCV001806953] Chr7:98967050..98967052 [GRCh38]
Chr7:98564673..98564675 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2873A>T (p.Tyr958Phe) single nucleotide variant not provided [RCV001863515] Chr7:98925161 [GRCh38]
Chr7:98522784 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5314G>A (p.Gly1772Arg) single nucleotide variant Inborn genetic diseases [RCV004045237]|not provided [RCV002008722] Chr7:98950242 [GRCh38]
Chr7:98547865 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10264_10265delinsCT (p.Ala3422Leu) indel not provided [RCV001864499] Chr7:98994803..98994804 [GRCh38]
Chr7:98592426..98592427 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4340G>A (p.Arg1447His) single nucleotide variant Developmental disorder [RCV001843803] Chr7:98937756 [GRCh38]
Chr7:98535379 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2087G>A (p.Arg696His) single nucleotide variant TRRAP-related disorder [RCV004553635]|not provided [RCV002024687] Chr7:98912101 [GRCh38]
Chr7:98509724 [GRCh37]
Chr7:7q22.1
benign|likely benign|uncertain significance
NM_001375524.1(TRRAP):c.6567G>T (p.Gln2189His) single nucleotide variant not provided [RCV001945328] Chr7:98961338 [GRCh38]
Chr7:98558961 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.7373A>C (p.Gln2458Pro) single nucleotide variant not provided [RCV002020767] Chr7:98967559 [GRCh38]
Chr7:98565182 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5842A>G (p.Met1948Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV001825306] Chr7:98955209 [GRCh38]
Chr7:98552832 [GRCh37]
Chr7:7q22.1
not provided
NM_001375524.1(TRRAP):c.6277G>A (p.Ala2093Thr) single nucleotide variant not provided [RCV001890315] Chr7:98958026 [GRCh38]
Chr7:98555649 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.4079C>T (p.Pro1360Leu) single nucleotide variant Developmental disorder [RCV001843782]|not provided [RCV003772368] Chr7:98935643 [GRCh38]
Chr7:98533266 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.1795G>A (p.Ala599Thr) single nucleotide variant Developmental disorder [RCV001843816] Chr7:98910590 [GRCh38]
Chr7:98508213 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1462C>A (p.Pro488Thr) single nucleotide variant not provided [RCV002041466] Chr7:98910167 [GRCh38]
Chr7:98507790 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9937C>T (p.Arg3313Cys) single nucleotide variant not provided [RCV001980166] Chr7:98993627 [GRCh38]
Chr7:98591250 [GRCh37]
Chr7:7q22.1
uncertain significance
NC_000007.13:g.(?_97816327)_(99382096_?)dup duplication not provided [RCV001916368] Chr7:97816327..99382096 [GRCh37]
Chr7:7q21.3-22.1
uncertain significance
NM_001375524.1(TRRAP):c.10840C>T (p.Arg3614Cys) single nucleotide variant not provided [RCV001930839] Chr7:99008463 [GRCh38]
Chr7:98606086 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7319G>A (p.Ser2440Asn) single nucleotide variant not provided [RCV001884561] Chr7:98967505 [GRCh38]
Chr7:98565128 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8450C>T (p.Ser2817Phe) single nucleotide variant not provided [RCV001997455] Chr7:98978275 [GRCh38]
Chr7:98575898 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7904C>T (p.Thr2635Met) single nucleotide variant not provided [RCV001899575] Chr7:98976213 [GRCh38]
Chr7:98573836 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2199+6G>C single nucleotide variant not provided [RCV002018633] Chr7:98912219 [GRCh38]
Chr7:98509842 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.11177T>A (p.Phe3726Tyr) single nucleotide variant not provided [RCV002018310] Chr7:99011375 [GRCh38]
Chr7:98608998 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1350+3A>G single nucleotide variant not provided [RCV001935722] Chr7:98908965 [GRCh38]
Chr7:98506588 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.3354A>C (p.Ile1118=) single nucleotide variant not provided [RCV002145442] Chr7:98930167 [GRCh38]
Chr7:98527790 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7968G>A (p.Ala2656=) single nucleotide variant not provided [RCV002190859] Chr7:98976491 [GRCh38]
Chr7:98574114 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9022+16C>T single nucleotide variant not provided [RCV002088904] Chr7:98983475 [GRCh38]
Chr7:98581098 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11007G>A (p.Ala3669=) single nucleotide variant not provided [RCV002167444] Chr7:99011120 [GRCh38]
Chr7:98608743 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4111+20C>T single nucleotide variant not provided [RCV002165640] Chr7:98935695 [GRCh38]
Chr7:98533318 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002227694]|Developmental delay with or without dysmorphic facies and autism [RCV002502047]|not provided [RCV003698883] Chr7:98988875 [GRCh38]
Chr7:98586498 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.52A>T (p.Met18Leu) single nucleotide variant not provided [RCV002224827] Chr7:98881202 [GRCh38]
Chr7:98478825 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9591+16C>T single nucleotide variant not provided [RCV002126481] Chr7:98988982 [GRCh38]
Chr7:98586605 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5937+15C>T single nucleotide variant not provided [RCV002206375] Chr7:98955319 [GRCh38]
Chr7:98552942 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6381G>A (p.Glu2127=) single nucleotide variant TRRAP-related disorder [RCV004553753]|not provided [RCV002116078] Chr7:98959382 [GRCh38]
Chr7:98557005 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1962G>A (p.Thr654=) single nucleotide variant not provided [RCV002191888] Chr7:98911226 [GRCh38]
Chr7:98508849 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1115+15C>T single nucleotide variant not provided [RCV002131721] Chr7:98906270 [GRCh38]
Chr7:98503893 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7512+12C>T single nucleotide variant not provided [RCV002173994] Chr7:98967710 [GRCh38]
Chr7:98565333 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1563G>A (p.Pro521=) single nucleotide variant not provided [RCV002097681] Chr7:98910268 [GRCh38]
Chr7:98507891 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1086C>T (p.Gly362=) single nucleotide variant not provided [RCV002132178] Chr7:98906226 [GRCh38]
Chr7:98503849 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10065A>G (p.Gln3355=) single nucleotide variant not provided [RCV002085590] Chr7:98994604 [GRCh38]
Chr7:98592227 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10860C>T (p.Ile3620=) single nucleotide variant not provided [RCV002113026] Chr7:99008483 [GRCh38]
Chr7:98606106 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2526C>T (p.Val842=) single nucleotide variant not provided [RCV002150442] Chr7:98917583 [GRCh38]
Chr7:98515206 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4323G>A (p.Thr1441=) single nucleotide variant not provided [RCV002150978] Chr7:98937739 [GRCh38]
Chr7:98535362 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11338-19C>G single nucleotide variant not provided [RCV002170653] Chr7:99012052 [GRCh38]
Chr7:98609675 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3072C>T (p.Gly1024=) single nucleotide variant not provided [RCV002115233] Chr7:98927263 [GRCh38]
Chr7:98524886 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4656G>A (p.Ala1552=) single nucleotide variant TRRAP-related disorder [RCV004553708]|not provided [RCV002093622] Chr7:98948328 [GRCh38]
Chr7:98545951 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6213C>G (p.Ala2071=) single nucleotide variant TRRAP-related disorder [RCV004548237]|not provided [RCV002210442] Chr7:98956515 [GRCh38]
Chr7:98554138 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1115+6A>C single nucleotide variant TRRAP-related disorder [RCV004553755]|not provided [RCV002132260] Chr7:98906261 [GRCh38]
Chr7:98503884 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.7911C>T (p.Val2637=) single nucleotide variant not provided [RCV002101711] Chr7:98976220 [GRCh38]
Chr7:98573843 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2946C>T (p.His982=) single nucleotide variant not provided [RCV002177670] Chr7:98925234 [GRCh38]
Chr7:98522857 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4091C>T (p.Pro1364Leu) single nucleotide variant TRRAP-related disorder [RCV004553670]|not provided [RCV002200102] Chr7:98935655 [GRCh38]
Chr7:98533278 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4014+15G>A single nucleotide variant not provided [RCV002176139] Chr7:98933417 [GRCh38]
Chr7:98531040 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8385+11G>A single nucleotide variant not provided [RCV002178480] Chr7:98977087 [GRCh38]
Chr7:98574710 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8634+19A>T single nucleotide variant not provided [RCV002123012] Chr7:98978923 [GRCh38]
Chr7:98576546 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7960-9T>C single nucleotide variant not provided [RCV002177004] Chr7:98976474 [GRCh38]
Chr7:98574097 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4596G>A (p.Pro1532=) single nucleotide variant not provided [RCV002122635] Chr7:98948268 [GRCh38]
Chr7:98545891 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11274C>T (p.Val3758=) single nucleotide variant not provided [RCV002081230] Chr7:99011472 [GRCh38]
Chr7:98609095 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2200-4G>A single nucleotide variant Inborn genetic diseases [RCV003025467]|not provided [RCV002137416] Chr7:98915719 [GRCh38]
Chr7:98513342 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1115+10T>G single nucleotide variant not provided [RCV002102258] Chr7:98906265 [GRCh38]
Chr7:98503888 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2200-11C>G single nucleotide variant not provided [RCV002138802] Chr7:98915712 [GRCh38]
Chr7:98513335 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5760A>G (p.Ala1920=) single nucleotide variant not provided [RCV002180624] Chr7:98955127 [GRCh38]
Chr7:98552750 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5731-11C>T single nucleotide variant not provided [RCV002201499] Chr7:98955087 [GRCh38]
Chr7:98552710 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6951G>A (p.Ala2317=) single nucleotide variant not provided [RCV002083917] Chr7:98964750 [GRCh38]
Chr7:98562373 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2439C>G (p.Val813=) single nucleotide variant not provided [RCV002162136] Chr7:98917496 [GRCh38]
Chr7:98515119 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1623C>G (p.Phe541Leu) single nucleotide variant not provided [RCV002156700] Chr7:98910328 [GRCh38]
Chr7:98507951 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10938+20G>A single nucleotide variant not provided [RCV002136384] Chr7:99008581 [GRCh38]
Chr7:98606204 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8361C>T (p.Tyr2787=) single nucleotide variant not provided [RCV002178643] Chr7:98977052 [GRCh38]
Chr7:98574675 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9766G>A (p.Val3256Met) single nucleotide variant not provided [RCV003116829] Chr7:98992146 [GRCh38]
Chr7:98589769 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9468C>T (p.Gly3156=) single nucleotide variant not provided [RCV003114152] Chr7:98988843 [GRCh38]
Chr7:98586466 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.8730C>T (p.Phe2910=) single nucleotide variant not provided [RCV003116901] Chr7:98981864 [GRCh38]
Chr7:98579487 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11238G>A (p.Thr3746=) single nucleotide variant not provided [RCV003111915] Chr7:99011436 [GRCh38]
Chr7:98609059 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11337+4G>C single nucleotide variant not provided [RCV003112548] Chr7:99011539 [GRCh38]
Chr7:98609162 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8783G>A (p.Arg2928Gln) single nucleotide variant not provided [RCV003118362] Chr7:98981917 [GRCh38]
Chr7:98579540 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9723G>A (p.Ser3241=) single nucleotide variant not provided [RCV003115399] Chr7:98990586 [GRCh38]
Chr7:98588209 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3697G>A (p.Ala1233Thr) single nucleotide variant not provided [RCV003114968] Chr7:98931510 [GRCh38]
Chr7:98529133 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1116-5C>T single nucleotide variant TRRAP-related disorder [RCV004554034]|not provided [RCV003118129] Chr7:98908723 [GRCh38]
Chr7:98506346 [GRCh37]
Chr7:7q22.1
likely benign
NC_000007.13:g.(?_98507659)_(100860555_?)dup duplication not provided [RCV003113282] Chr7:98507659..100860555 [GRCh37]
Chr7:7q22.1
uncertain significance
NC_000007.13:g.(?_98478774)_(98493463_?)dup duplication not provided [RCV003113283] Chr7:98478774..98493463 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5273C>T (p.Ala1758Val) single nucleotide variant not provided [RCV003120110] Chr7:98950201 [GRCh38]
Chr7:98547824 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.367-10T>C single nucleotide variant not provided [RCV003121226] Chr7:98893788 [GRCh38]
Chr7:98491411 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11258T>C (p.Leu3753Pro) single nucleotide variant not provided [RCV003123203] Chr7:99011456 [GRCh38]
Chr7:98609079 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.756C>T (p.Pro252=) single nucleotide variant not provided [RCV003121237] Chr7:98899723 [GRCh38]
Chr7:98497346 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5259C>T (p.Ile1753=) single nucleotide variant not provided [RCV003121957] Chr7:98950187 [GRCh38]
Chr7:98547810 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6234C>G (p.Val2078=) single nucleotide variant not provided [RCV003118673] Chr7:98957983 [GRCh38]
Chr7:98555606 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.205T>C (p.Phe69Leu) single nucleotide variant not provided [RCV003123344] Chr7:98890389 [GRCh38]
Chr7:98488012 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1004C>A (p.Ala335Asp) single nucleotide variant not provided [RCV003123345] Chr7:98903485 [GRCh38]
Chr7:98501108 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2742C>T (p.Tyr914=) single nucleotide variant not provided [RCV003118728] Chr7:98921872 [GRCh38]
Chr7:98519495 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5865G>A (p.Lys1955=) single nucleotide variant not provided [RCV003119173] Chr7:98955232 [GRCh38]
Chr7:98552855 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7864G>A (p.Val2622Ile) single nucleotide variant not provided [RCV003118837] Chr7:98976173 [GRCh38]
Chr7:98573796 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10573A>G (p.Thr3525Ala) single nucleotide variant Inborn genetic diseases [RCV004245898]|not provided [RCV003121680] Chr7:99005168 [GRCh38]
Chr7:98602791 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2458C>A (p.Leu820Ile) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003152976] Chr7:98917515 [GRCh38]
Chr7:98515138 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10214T>C (p.Met3405Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003130945] Chr7:98994753 [GRCh38]
Chr7:98592376 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4804A>G (p.Lys1602Glu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003148441]|Hearing loss, autosomal dominant 75 [RCV003148442] Chr7:98949432 [GRCh38]
Chr7:98547055 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5974A>C (p.Met1992Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003148145]|Hearing loss, autosomal dominant 75 [RCV003148146] Chr7:98956182 [GRCh38]
Chr7:98553805 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3092T>C (p.Ile1031Thr) single nucleotide variant not provided [RCV003129517] Chr7:98927283 [GRCh38]
Chr7:98524906 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2875T>G (p.Tyr959Asp) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002273217] Chr7:98925163 [GRCh38]
Chr7:98522786 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10138C>A (p.His3380Asn) single nucleotide variant not provided [RCV002254074] Chr7:98994677 [GRCh38]
Chr7:98592300 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5049C>G (p.Phe1683Leu) single nucleotide variant See cases [RCV002253079] Chr7:98949755 [GRCh38]
Chr7:98547378 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8750T>C (p.Met2917Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003148368]|Hearing loss, autosomal dominant 75 [RCV003148369] Chr7:98981884 [GRCh38]
Chr7:98579507 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11081G>C (p.Gly3694Ala) single nucleotide variant not provided [RCV003152026] Chr7:99011194 [GRCh38]
Chr7:98608817 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7176+4A>G single nucleotide variant See cases [RCV002252922] Chr7:98965899 [GRCh38]
Chr7:98563522 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1813-52T>A single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002250858] Chr7:98911025 [GRCh38]
Chr7:98508648 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.7910T>C (p.Val2637Ala) single nucleotide variant not provided [RCV003154497] Chr7:98976219 [GRCh38]
Chr7:98573842 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5722G>A (p.Val1908Ile) single nucleotide variant See cases [RCV003232927] Chr7:98953425 [GRCh38]
Chr7:98551048 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.3026C>T (p.Ala1009Val) single nucleotide variant Inborn genetic diseases [RCV003277811] Chr7:98927217 [GRCh38]
Chr7:98524840 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2842G>C (p.Asp948His) single nucleotide variant not provided [RCV002269598] Chr7:98925130 [GRCh38]
Chr7:98522753 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9076G>T (p.Ala3026Ser) single nucleotide variant not provided [RCV002265513] Chr7:98984146 [GRCh38]
Chr7:98581769 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10863G>C (p.Glu3621Asp) single nucleotide variant not provided [RCV002275749] Chr7:99008486 [GRCh38]
Chr7:98606109 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7730A>C (p.Gln2577Pro) single nucleotide variant not provided [RCV002293914] Chr7:98971836 [GRCh38]
Chr7:98569459 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8140A>T (p.Thr2714Ser) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002289079]|not provided [RCV003097770] Chr7:98976663 [GRCh38]
Chr7:98574286 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2873A>G (p.Tyr958Cys) single nucleotide variant not provided [RCV002265512] Chr7:98925161 [GRCh38]
Chr7:98522784 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10051C>T (p.Leu3351Phe) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002273354] Chr7:98994590 [GRCh38]
Chr7:98592213 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4558A>G (p.Ile1520Val) single nucleotide variant not provided [RCV002263447] Chr7:98948230 [GRCh38]
Chr7:98545853 [GRCh37]
Chr7:7q22.1
likely benign|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.9172A>T (p.Ser3058Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002266819] Chr7:98984242 [GRCh38]
Chr7:98581865 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5711A>G (p.His1904Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002290077] Chr7:98953414 [GRCh38]
Chr7:98551037 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3196T>C (p.Tyr1066His) single nucleotide variant not provided [RCV002269584] Chr7:98930009 [GRCh38]
Chr7:98527632 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.4873G>A (p.Gly1625Arg) single nucleotide variant not provided [RCV002291886] Chr7:98949501 [GRCh38]
Chr7:98547124 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1169T>C (p.Leu390Pro) single nucleotide variant not provided [RCV003233193] Chr7:98908781 [GRCh38]
Chr7:98506404 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1292G>A (p.Arg431His) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002291114] Chr7:98908904 [GRCh38]
Chr7:98506527 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.455A>G (p.His152Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002289152] Chr7:98895768 [GRCh38]
Chr7:98493391 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2954A>G (p.Tyr985Cys) single nucleotide variant not provided [RCV002296889] Chr7:98925242 [GRCh38]
Chr7:98522865 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10390G>T (p.Ala3464Ser) single nucleotide variant See cases [RCV003232921] Chr7:99004270 [GRCh38]
Chr7:98601893 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2785T>C (p.Ser929Pro) single nucleotide variant not provided [RCV002283326] Chr7:98921915 [GRCh38]
Chr7:98519538 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_001375524.1(TRRAP):c.6001T>C (p.Phe2001Leu) single nucleotide variant not provided [RCV002274703] Chr7:98956209 [GRCh38]
Chr7:98553832 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7643A>G (p.His2548Arg) single nucleotide variant not provided [RCV002260788] Chr7:98970242 [GRCh38]
Chr7:98567865 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2657G>T (p.Ser886Ile) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002288431] Chr7:98921787 [GRCh38]
Chr7:98519410 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3331G>A (p.Gly1111Arg) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003153090] Chr7:98930144 [GRCh38]
Chr7:98527767 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1570_1578dup (p.Pro526_Phe527insValProPro) duplication Developmental delay with or without dysmorphic facies and autism [RCV003154091]|not provided [RCV003778916] Chr7:98910271..98910272 [GRCh38]
Chr7:98507894..98507895 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.6109A>G (p.Met2037Val) single nucleotide variant Inborn genetic diseases [RCV003285405] Chr7:98956411 [GRCh38]
Chr7:98554034 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.798G>C (p.Ala266=) single nucleotide variant not provided [RCV002613745] Chr7:98899765 [GRCh38]
Chr7:98497388 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11591G>A (p.Arg3864His) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002471664] Chr7:99012324 [GRCh38]
Chr7:98609947 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9797G>A (p.Arg3266Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002466939] Chr7:98992177 [GRCh38]
Chr7:98589800 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8324G>A (p.Arg2775Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002465047] Chr7:98977015 [GRCh38]
Chr7:98574638 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10667_10668del (p.Glu3556fs) microsatellite not specified [RCV002470043] Chr7:99005259..99005260 [GRCh38]
Chr7:98602882..98602883 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10915C>T (p.Arg3639Trp) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002470259] Chr7:99008538 [GRCh38]
Chr7:98606161 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5983G>A (p.Ala1995Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002470592] Chr7:98956191 [GRCh38]
Chr7:98553814 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3670G>A (p.Glu1224Lys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002470599] Chr7:98931483 [GRCh38]
Chr7:98529106 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3591+16C>T single nucleotide variant not provided [RCV002858158] Chr7:98930846 [GRCh38]
Chr7:98528469 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8032G>A (p.Ala2678Thr) single nucleotide variant Inborn genetic diseases [RCV002771299]|not provided [RCV002771298] Chr7:98976555 [GRCh38]
Chr7:98574178 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.8629G>A (p.Val2877Met) single nucleotide variant Inborn genetic diseases [RCV003265061]|not provided [RCV003720821] Chr7:98978899 [GRCh38]
Chr7:98576522 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.4087G>A (p.Val1363Ile) single nucleotide variant See cases [RCV003128532]|not provided [RCV003778682] Chr7:98935651 [GRCh38]
Chr7:98533274 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9733C>T (p.Leu3245=) single nucleotide variant Hyperphosphatasia with intellectual disability syndrome 2 [RCV003130895] Chr7:98990596 [GRCh38]
Chr7:98588219 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4985C>G (p.Ser1662Cys) single nucleotide variant not provided [RCV002296109] Chr7:98949691 [GRCh38]
Chr7:98547314 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1537C>G (p.Pro513Ala) single nucleotide variant not provided [RCV002304163] Chr7:98910242 [GRCh38]
Chr7:98507865 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.3407C>T (p.Pro1136Leu) single nucleotide variant not specified [RCV002308586] Chr7:98930646 [GRCh38]
Chr7:98528269 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8065_8067dup (p.Cys2689_Val2690insCys) duplication not provided [RCV002308771] Chr7:98976587..98976588 [GRCh38]
Chr7:98574210..98574211 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7724G>A (p.Gly2575Glu) single nucleotide variant not provided [RCV002300408] Chr7:98971830 [GRCh38]
Chr7:98569453 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8959A>G (p.Ile2987Val) single nucleotide variant not provided [RCV002295139] Chr7:98983396 [GRCh38]
Chr7:98581019 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5256C>A (p.Ser1752Arg) single nucleotide variant not provided [RCV002300068] Chr7:98950184 [GRCh38]
Chr7:98547807 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1291C>T (p.Arg431Cys) single nucleotide variant not provided [RCV002299073] Chr7:98908903 [GRCh38]
Chr7:98506526 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8069T>A (p.Val2690Glu) single nucleotide variant not provided [RCV002301790] Chr7:98976592 [GRCh38]
Chr7:98574215 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1571T>C (p.Val524Ala) single nucleotide variant not provided [RCV002306095] Chr7:98910276 [GRCh38]
Chr7:98507899 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10121A>G (p.Asp3374Gly) single nucleotide variant not provided [RCV002302941] Chr7:98994660 [GRCh38]
Chr7:98592283 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9764G>A (p.Arg3255His) single nucleotide variant not provided [RCV002308964] Chr7:98992144 [GRCh38]
Chr7:98589767 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9365G>T (p.Gly3122Val) single nucleotide variant not provided [RCV002296679] Chr7:98985020 [GRCh38]
Chr7:98582643 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10591T>C (p.Tyr3531His) single nucleotide variant not provided [RCV002303130] Chr7:99005186 [GRCh38]
Chr7:98602809 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10997A>C (p.Lys3666Thr) single nucleotide variant not provided [RCV002294873] Chr7:99011110 [GRCh38]
Chr7:98608733 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2108A>C (p.Asn703Thr) single nucleotide variant not provided [RCV002300174] Chr7:98912122 [GRCh38]
Chr7:98509745 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2879G>A (p.Arg960Gln) single nucleotide variant not provided [RCV002839543] Chr7:98925167 [GRCh38]
Chr7:98522790 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2999A>G (p.Asn1000Ser) single nucleotide variant Inborn genetic diseases [RCV003167897]|not provided [RCV002903363] Chr7:98927190 [GRCh38]
Chr7:98524813 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.11515C>T (p.Leu3839Phe) single nucleotide variant not provided [RCV002512339] Chr7:99012248 [GRCh38]
Chr7:98609871 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6330C>G (p.Arg2110=) single nucleotide variant not provided [RCV002681295] Chr7:98958079 [GRCh38]
Chr7:98555702 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5223G>T (p.Glu1741Asp) single nucleotide variant not provided [RCV002839081] Chr7:98950151 [GRCh38]
Chr7:98547774 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6081G>A (p.Arg2027=) single nucleotide variant not provided [RCV002904066] Chr7:98956289 [GRCh38]
Chr7:98553912 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6774T>C (p.Tyr2258=) single nucleotide variant not provided [RCV002862248] Chr7:98962372 [GRCh38]
Chr7:98559995 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8891A>G (p.Asn2964Ser) single nucleotide variant Inborn genetic diseases [RCV002729550]|not provided [RCV003778575] Chr7:98983328 [GRCh38]
Chr7:98580951 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9780G>A (p.Ala3260=) single nucleotide variant TRRAP-related disorder [RCV004548385]|not provided [RCV002903329] Chr7:98992160 [GRCh38]
Chr7:98589783 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.451-4T>G single nucleotide variant Inborn genetic diseases [RCV002751163]|not provided [RCV002751164] Chr7:98895760 [GRCh38]
Chr7:98493383 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7624G>A (p.Ala2542Thr) single nucleotide variant Inborn genetic diseases [RCV002684187] Chr7:98970223 [GRCh38]
Chr7:98567846 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2816T>C (p.Met939Thr) single nucleotide variant not provided [RCV003015959] Chr7:98921946 [GRCh38]
Chr7:98519569 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8660T>C (p.Met2887Thr) single nucleotide variant Inborn genetic diseases [RCV002683333] Chr7:98981794 [GRCh38]
Chr7:98579417 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3337G>A (p.Val1113Met) single nucleotide variant not provided [RCV003074936] Chr7:98930150 [GRCh38]
Chr7:98527773 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8754C>T (p.Ala2918=) single nucleotide variant not provided [RCV002903899] Chr7:98981888 [GRCh38]
Chr7:98579511 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9536A>T (p.Tyr3179Phe) single nucleotide variant Inborn genetic diseases [RCV002858739] Chr7:98988911 [GRCh38]
Chr7:98586534 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7427G>A (p.Arg2476His) single nucleotide variant Inborn genetic diseases [RCV002729047] Chr7:98967613 [GRCh38]
Chr7:98565236 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7967C>T (p.Ala2656Val) single nucleotide variant not provided [RCV002970752] Chr7:98976490 [GRCh38]
Chr7:98574113 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6255A>T (p.Leu2085=) single nucleotide variant not provided [RCV002971393] Chr7:98958004 [GRCh38]
Chr7:98555627 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7377A>T (p.Pro2459=) single nucleotide variant not provided [RCV002685578] Chr7:98967563 [GRCh38]
Chr7:98565186 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.437C>T (p.Pro146Leu) single nucleotide variant not provided [RCV002972590] Chr7:98893868 [GRCh38]
Chr7:98491491 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1446A>G (p.Ala482=) single nucleotide variant not provided [RCV002613852] Chr7:98910151 [GRCh38]
Chr7:98507774 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10954C>T (p.Leu3652Phe) single nucleotide variant not provided [RCV002838940] Chr7:99011067 [GRCh38]
Chr7:98608690 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5334+3G>A single nucleotide variant not provided [RCV002904476] Chr7:98950265 [GRCh38]
Chr7:98547888 [GRCh37]
Chr7:7q22.1
likely benign|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.9436G>A (p.Asp3146Asn) single nucleotide variant not provided [RCV002613455] Chr7:98988811 [GRCh38]
Chr7:98586434 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8625G>A (p.Ala2875=) single nucleotide variant not provided [RCV002967503] Chr7:98978895 [GRCh38]
Chr7:98576518 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.615G>A (p.Glu205=) single nucleotide variant not provided [RCV002967959] Chr7:98897848 [GRCh38]
Chr7:98495471 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3394-4C>A single nucleotide variant not provided [RCV002967960] Chr7:98930629 [GRCh38]
Chr7:98528252 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7512+18A>T single nucleotide variant not provided [RCV002613938] Chr7:98967716 [GRCh38]
Chr7:98565339 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6366G>A (p.Ala2122=) single nucleotide variant not provided [RCV002615234] Chr7:98959367 [GRCh38]
Chr7:98556990 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4038A>C (p.Glu1346Asp) single nucleotide variant Inborn genetic diseases [RCV002970696]|not provided [RCV002954132] Chr7:98935602 [GRCh38]
Chr7:98533225 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1587G>A (p.Lys529=) single nucleotide variant not provided [RCV002903897] Chr7:98910292 [GRCh38]
Chr7:98507915 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3558A>G (p.Ala1186=) single nucleotide variant not provided [RCV002903898] Chr7:98930797 [GRCh38]
Chr7:98528420 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1215C>T (p.Asn405=) single nucleotide variant not provided [RCV002686169] Chr7:98908827 [GRCh38]
Chr7:98506450 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5778C>T (p.Ile1926=) single nucleotide variant not provided [RCV002681308] Chr7:98955145 [GRCh38]
Chr7:98552768 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8271G>C (p.Glu2757Asp) single nucleotide variant not provided [RCV002972053] Chr7:98976962 [GRCh38]
Chr7:98574585 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5730+1G>C single nucleotide variant not provided [RCV002881717] Chr7:98953434 [GRCh38]
Chr7:98551057 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8635-16G>A single nucleotide variant not provided [RCV002750672] Chr7:98981753 [GRCh38]
Chr7:98579376 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7538G>C (p.Ser2513Thr) single nucleotide variant not provided [RCV002613752] Chr7:98970137 [GRCh38]
Chr7:98567760 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4665C>T (p.Ile1555=) single nucleotide variant not provided [RCV003032514] Chr7:98948337 [GRCh38]
Chr7:98545960 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2975+13C>G single nucleotide variant not provided [RCV002617756] Chr7:98925276 [GRCh38]
Chr7:98522899 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1578C>T (p.Pro526=) single nucleotide variant not provided [RCV002908757] Chr7:98910283 [GRCh38]
Chr7:98507906 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11143-17C>T single nucleotide variant not provided [RCV002820031] Chr7:99011324 [GRCh38]
Chr7:98608947 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.898-10G>C single nucleotide variant not provided [RCV003034539] Chr7:98903369 [GRCh38]
Chr7:98500992 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7299-17C>G single nucleotide variant not provided [RCV003034540] Chr7:98967468 [GRCh38]
Chr7:98565091 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.969G>A (p.Glu323=) single nucleotide variant not provided [RCV002681612] Chr7:98903450 [GRCh38]
Chr7:98501073 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7131C>T (p.Ile2377=) single nucleotide variant TRRAP-related disorder [RCV004548361]|not provided [RCV002750865] Chr7:98965850 [GRCh38]
Chr7:98563473 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3208A>G (p.Ser1070Gly) single nucleotide variant not provided [RCV002971208] Chr7:98930021 [GRCh38]
Chr7:98527644 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6976+17C>T single nucleotide variant not provided [RCV002771568] Chr7:98964792 [GRCh38]
Chr7:98562415 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11520C>A (p.Ala3840=) single nucleotide variant not provided [RCV002839450] Chr7:99012253 [GRCh38]
Chr7:98609876 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11532C>T (p.Gly3844=) single nucleotide variant not provided [RCV002882215] Chr7:99012265 [GRCh38]
Chr7:98609888 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9592-3C>T single nucleotide variant not provided [RCV002908872] Chr7:98990452 [GRCh38]
Chr7:98588075 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4710T>G (p.Thr1570=) single nucleotide variant not provided [RCV002815771] Chr7:98948607 [GRCh38]
Chr7:98546230 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4954-3C>T single nucleotide variant not provided [RCV002972210] Chr7:98949657 [GRCh38]
Chr7:98547280 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6977-7C>T single nucleotide variant not provided [RCV002948098] Chr7:98965689 [GRCh38]
Chr7:98563312 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3642G>T (p.Leu1214=) single nucleotide variant not provided [RCV002690466] Chr7:98931455 [GRCh38]
Chr7:98529078 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10398C>T (p.Thr3466=) single nucleotide variant not provided [RCV002795130] Chr7:99004278 [GRCh38]
Chr7:98601901 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9582C>T (p.Tyr3194=) single nucleotide variant not provided [RCV002690547] Chr7:98988957 [GRCh38]
Chr7:98586580 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7866T>A (p.Val2622=) single nucleotide variant not provided [RCV002618068] Chr7:98976175 [GRCh38]
Chr7:98573798 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4953+5C>T single nucleotide variant See cases [RCV003128460]|not provided [RCV002948113] Chr7:98949586 [GRCh38]
Chr7:98547209 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.4810G>A (p.Ala1604Thr) single nucleotide variant not provided [RCV003099083] Chr7:98949438 [GRCh38]
Chr7:98547061 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8336C>T (p.Ser2779Leu) single nucleotide variant not provided [RCV002967466] Chr7:98977027 [GRCh38]
Chr7:98574650 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3005T>C (p.Ile1002Thr) single nucleotide variant not provided [RCV002617777] Chr7:98927196 [GRCh38]
Chr7:98524819 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7839+19A>G single nucleotide variant not provided [RCV002771111] Chr7:98971964 [GRCh38]
Chr7:98569587 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2230A>G (p.Met744Val) single nucleotide variant not provided [RCV002726351] Chr7:98915753 [GRCh38]
Chr7:98513376 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10906G>A (p.Val3636Met) single nucleotide variant not provided [RCV003017121] Chr7:99008529 [GRCh38]
Chr7:98606152 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5260G>A (p.Ala1754Thr) single nucleotide variant Inborn genetic diseases [RCV002938367]|not provided [RCV002947402] Chr7:98950188 [GRCh38]
Chr7:98547811 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser) single nucleotide variant not provided [RCV002907800] Chr7:98949528 [GRCh38]
Chr7:98547151 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.8281C>T (p.Leu2761=) single nucleotide variant not provided [RCV002865988] Chr7:98976972 [GRCh38]
Chr7:98574595 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9629C>T (p.Thr3210Ile) single nucleotide variant not provided [RCV002755341] Chr7:98990492 [GRCh38]
Chr7:98588115 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.7772T>C (p.Ile2591Thr) single nucleotide variant not provided [RCV002726402] Chr7:98971878 [GRCh38]
Chr7:98569501 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9166A>T (p.Ile3056Leu) single nucleotide variant Inborn genetic diseases [RCV002752667] Chr7:98984236 [GRCh38]
Chr7:98581859 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7965C>T (p.Leu2655=) single nucleotide variant not provided [RCV002617109] Chr7:98976488 [GRCh38]
Chr7:98574111 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3190C>T (p.Pro1064Ser) single nucleotide variant not provided [RCV003013509] Chr7:98930003 [GRCh38]
Chr7:98527626 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9122G>C (p.Gly3041Ala) single nucleotide variant not provided [RCV002686359] Chr7:98984192 [GRCh38]
Chr7:98581815 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7959+9A>G single nucleotide variant not provided [RCV002970800] Chr7:98976277 [GRCh38]
Chr7:98573900 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.388C>A (p.Leu130Ile) single nucleotide variant not provided [RCV002616633] Chr7:98893819 [GRCh38]
Chr7:98491442 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6998T>C (p.Leu2333Pro) single nucleotide variant Inborn genetic diseases [RCV002817796] Chr7:98965717 [GRCh38]
Chr7:98563340 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10054A>C (p.Arg3352=) single nucleotide variant not provided [RCV002750613] Chr7:98994593 [GRCh38]
Chr7:98592216 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6655G>A (p.Val2219Ile) single nucleotide variant not provided [RCV002904067] Chr7:98961426 [GRCh38]
Chr7:98559049 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.7065G>A (p.Gln2355=) single nucleotide variant not provided [RCV003013924] Chr7:98965784 [GRCh38]
Chr7:98563407 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10594A>T (p.Ile3532Phe) single nucleotide variant not provided [RCV002755424] Chr7:99005189 [GRCh38]
Chr7:98602812 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5613C>T (p.Phe1871=) single nucleotide variant not provided [RCV002776478] Chr7:98953316 [GRCh38]
Chr7:98550939 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4728A>G (p.Thr1576=) single nucleotide variant not provided [RCV002614223] Chr7:98948625 [GRCh38]
Chr7:98546248 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9591+15A>G single nucleotide variant not provided [RCV002686201] Chr7:98988981 [GRCh38]
Chr7:98586604 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6057C>T (p.Val2019=) single nucleotide variant not provided [RCV003075601] Chr7:98956265 [GRCh38]
Chr7:98553888 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11424G>A (p.Ser3808=) single nucleotide variant not provided [RCV002972180] Chr7:99012157 [GRCh38]
Chr7:98609780 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9756+20C>T single nucleotide variant not provided [RCV002730535] Chr7:98990639 [GRCh38]
Chr7:98588262 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5938-8G>A single nucleotide variant not provided [RCV003074379] Chr7:98956138 [GRCh38]
Chr7:98553761 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6232G>A (p.Val2078Ile) single nucleotide variant Inborn genetic diseases [RCV002841426] Chr7:98957981 [GRCh38]
Chr7:98555604 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7966G>A (p.Ala2656Thr) single nucleotide variant not provided [RCV002771220] Chr7:98976489 [GRCh38]
Chr7:98574112 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3550C>T (p.Leu1184=) single nucleotide variant not provided [RCV003095606] Chr7:98930789 [GRCh38]
Chr7:98528412 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9573G>A (p.Ser3191=) single nucleotide variant not provided [RCV002995428] Chr7:98988948 [GRCh38]
Chr7:98586571 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8058G>A (p.Met2686Ile) single nucleotide variant Inborn genetic diseases [RCV002882503] Chr7:98976581 [GRCh38]
Chr7:98574204 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2280A>C (p.Leu760=) single nucleotide variant not provided [RCV002618236] Chr7:98915803 [GRCh38]
Chr7:98513426 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6232-14_6232-13insCCT insertion not provided [RCV002617106] Chr7:98957967..98957968 [GRCh38]
Chr7:98555590..98555591 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2601G>A (p.Pro867=) single nucleotide variant TRRAP-related disorder [RCV004548395]|not provided [RCV002908758] Chr7:98917658 [GRCh38]
Chr7:98515281 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.5935A>G (p.Lys1979Glu) single nucleotide variant not provided [RCV002815745] Chr7:98955302 [GRCh38]
Chr7:98552925 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5284C>T (p.Arg1762Cys) single nucleotide variant Inborn genetic diseases [RCV002882608] Chr7:98950212 [GRCh38]
Chr7:98547835 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3393+12T>C single nucleotide variant not provided [RCV002857928] Chr7:98930218 [GRCh38]
Chr7:98527841 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.451-3del deletion not provided [RCV002615871] Chr7:98895755 [GRCh38]
Chr7:98493378 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10846G>A (p.Ala3616Thr) single nucleotide variant Inborn genetic diseases [RCV002903969]|not provided [RCV002926736] Chr7:99008469 [GRCh38]
Chr7:98606092 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2200-5C>G single nucleotide variant not provided [RCV002756230] Chr7:98915718 [GRCh38]
Chr7:98513341 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5335-16T>G single nucleotide variant not provided [RCV002617727] Chr7:98950860 [GRCh38]
Chr7:98548483 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7744A>C (p.Lys2582Gln) single nucleotide variant not provided [RCV003034321] Chr7:98971850 [GRCh38]
Chr7:98569473 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2008-21_2008-20del deletion not provided [RCV002618187] Chr7:98912001..98912002 [GRCh38]
Chr7:98509624..98509625 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5699A>G (p.Lys1900Arg) single nucleotide variant not provided [RCV002756416] Chr7:98953402 [GRCh38]
Chr7:98551025 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7177A>G (p.Thr2393Ala) single nucleotide variant not provided [RCV002971114] Chr7:98967041 [GRCh38]
Chr7:98564664 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1813-1G>C single nucleotide variant not provided [RCV002881753] Chr7:98911076 [GRCh38]
Chr7:98508699 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.269G>A (p.Arg90Gln) single nucleotide variant Inborn genetic diseases [RCV002727871]|not provided [RCV003140159] Chr7:98892431 [GRCh38]
Chr7:98490054 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5414A>G (p.Asn1805Ser) single nucleotide variant Inborn genetic diseases [RCV002688053] Chr7:98950955 [GRCh38]
Chr7:98548578 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8634+16G>A single nucleotide variant not provided [RCV002617658] Chr7:98978920 [GRCh38]
Chr7:98576543 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8262C>T (p.Ser2754=) single nucleotide variant not provided [RCV002967961] Chr7:98976953 [GRCh38]
Chr7:98574576 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6296A>C (p.Gln2099Pro) single nucleotide variant Inborn genetic diseases [RCV003161843]|not provided [RCV003097485] Chr7:98958045 [GRCh38]
Chr7:98555668 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.3335A>C (p.Glu1112Ala) single nucleotide variant not provided [RCV002461826] Chr7:98930148 [GRCh38]
Chr7:98527771 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4953+17C>G single nucleotide variant not provided [RCV002726798] Chr7:98949598 [GRCh38]
Chr7:98547221 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6828C>T (p.Phe2276=) single nucleotide variant not provided [RCV002614770] Chr7:98962426 [GRCh38]
Chr7:98560049 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11142+19C>A single nucleotide variant not provided [RCV002775846] Chr7:99011274 [GRCh38]
Chr7:98608897 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.351G>A (p.Met117Ile) single nucleotide variant not provided [RCV002797126] Chr7:98892513 [GRCh38]
Chr7:98490136 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11313G>T (p.Arg3771=) single nucleotide variant TRRAP-related disorder [RCV004548414]|not provided [RCV002927769] Chr7:99011511 [GRCh38]
Chr7:98609134 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11562C>T (p.Ala3854=) single nucleotide variant not provided [RCV003080968] Chr7:99012295 [GRCh38]
Chr7:98609918 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3696C>T (p.Ala1232=) single nucleotide variant not provided [RCV002948668] Chr7:98931509 [GRCh38]
Chr7:98529132 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1741T>C (p.Leu581=) single nucleotide variant not provided [RCV002593414] Chr7:98910536 [GRCh38]
Chr7:98508159 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8194C>G (p.Pro2732Ala) single nucleotide variant not provided [RCV003022104] Chr7:98976717 [GRCh38]
Chr7:98574340 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4111+19A>G single nucleotide variant not provided [RCV002622076] Chr7:98935694 [GRCh38]
Chr7:98533317 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10511C>T (p.Thr3504Met) single nucleotide variant not provided [RCV003002600] Chr7:99004391 [GRCh38]
Chr7:98602014 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8887A>G (p.Thr2963Ala) single nucleotide variant Inborn genetic diseases [RCV002707248]|not provided [RCV003565575] Chr7:98983324 [GRCh38]
Chr7:98580947 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.11526C>T (p.Phe3842=) single nucleotide variant TRRAP-related disorder [RCV004548337]|not provided [RCV002621495] Chr7:99012259 [GRCh38]
Chr7:98609882 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11037C>T (p.Tyr3679=) single nucleotide variant not provided [RCV002662430] Chr7:99011150 [GRCh38]
Chr7:98608773 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3774G>A (p.Lys1258=) single nucleotide variant not provided [RCV002866604] Chr7:98931587 [GRCh38]
Chr7:98529210 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2389_2401del (p.Leu797fs) deletion not provided [RCV003022079] Chr7:98917444..98917456 [GRCh38]
Chr7:98515067..98515079 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3253A>C (p.Lys1085Gln) single nucleotide variant Inborn genetic diseases [RCV003021862]|TRRAP-related disorder [RCV004550347]|not provided [RCV003021861] Chr7:98930066 [GRCh38]
Chr7:98527689 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.2524G>A (p.Val842Ile) single nucleotide variant not provided [RCV002619518] Chr7:98917581 [GRCh38]
Chr7:98515204 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1116-4G>A single nucleotide variant TRRAP-related disorder [RCV004550406]|not provided [RCV003080489] Chr7:98908724 [GRCh38]
Chr7:98506347 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7176+12C>T single nucleotide variant not provided [RCV002781463] Chr7:98965907 [GRCh38]
Chr7:98563530 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8635-9C>T single nucleotide variant not provided [RCV002696167] Chr7:98981760 [GRCh38]
Chr7:98579383 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2200-8C>T single nucleotide variant not provided [RCV002696276] Chr7:98915715 [GRCh38]
Chr7:98513338 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8445C>T (p.Asn2815=) single nucleotide variant not provided [RCV003081623] Chr7:98978270 [GRCh38]
Chr7:98575893 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1167C>T (p.His389=) single nucleotide variant not provided [RCV002639558] Chr7:98908779 [GRCh38]
Chr7:98506402 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5023C>A (p.Arg1675=) single nucleotide variant not provided [RCV002953791] Chr7:98949729 [GRCh38]
Chr7:98547352 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7140A>G (p.Glu2380=) single nucleotide variant not provided [RCV002740415] Chr7:98965859 [GRCh38]
Chr7:98563482 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8796A>T (p.Val2932=) single nucleotide variant not provided [RCV002640169] Chr7:98981930 [GRCh38]
Chr7:98579553 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6895G>A (p.Val2299Ile) single nucleotide variant Inborn genetic diseases [RCV004065159]|not provided [RCV002976561] Chr7:98964694 [GRCh38]
Chr7:98562317 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.2511G>A (p.Gly837=) single nucleotide variant not provided [RCV002636454] Chr7:98917568 [GRCh38]
Chr7:98515191 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3636G>C (p.Gln1212His) single nucleotide variant Inborn genetic diseases [RCV004067312]|not provided [RCV002923746] Chr7:98931449 [GRCh38]
Chr7:98529072 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.10323C>T (p.Ser3441=) single nucleotide variant not provided [RCV002795621] Chr7:99004203 [GRCh38]
Chr7:98601826 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1571_1582dup (p.Phe527_Glu528insValProProPhe) duplication not provided [RCV002867306] Chr7:98910273..98910274 [GRCh38]
Chr7:98507896..98507897 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.610C>T (p.Arg204Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003340628]|not provided [RCV003080048] Chr7:98897843 [GRCh38]
Chr7:98495466 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1445C>G (p.Ala482Gly) single nucleotide variant not provided [RCV002948674] Chr7:98910150 [GRCh38]
Chr7:98507773 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5913G>A (p.Leu1971=) single nucleotide variant not provided [RCV002867190] Chr7:98955280 [GRCh38]
Chr7:98552903 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1715-9_1715-8del microsatellite not provided [RCV002795329] Chr7:98910498..98910499 [GRCh38]
Chr7:98508121..98508122 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5643C>T (p.Cys1881=) single nucleotide variant not provided [RCV002948514] Chr7:98953346 [GRCh38]
Chr7:98550969 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3176-17_3176-16delinsTT indel not provided [RCV002781427] Chr7:98929972..98929973 [GRCh38]
Chr7:98527595..98527596 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8934G>A (p.Val2978=) single nucleotide variant not provided [RCV002975924] Chr7:98983371 [GRCh38]
Chr7:98580994 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7707C>T (p.Asp2569=) single nucleotide variant not provided [RCV002909762] Chr7:98971813 [GRCh38]
Chr7:98569436 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11215C>T (p.Arg3739Cys) single nucleotide variant Inborn genetic diseases [RCV002758157] Chr7:99011413 [GRCh38]
Chr7:98609036 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8413G>T (p.Asp2805Tyr) single nucleotide variant Inborn genetic diseases [RCV002758166] Chr7:98978238 [GRCh38]
Chr7:98575861 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9202A>G (p.Ile3068Val) single nucleotide variant TRRAP-related disorder [RCV004550399]|not provided [RCV003080085] Chr7:98984272 [GRCh38]
Chr7:98581895 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2752G>A (p.Glu918Lys) single nucleotide variant Inborn genetic diseases [RCV003001687]|not provided [RCV003434666] Chr7:98921882 [GRCh38]
Chr7:98519505 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9032C>A (p.Thr3011Asn) single nucleotide variant not provided [RCV002619185] Chr7:98984102 [GRCh38]
Chr7:98581725 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4894C>T (p.Arg1632Cys) single nucleotide variant Inborn genetic diseases [RCV002978551]|not provided [RCV003575011] Chr7:98949522 [GRCh38]
Chr7:98547145 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.1593A>T (p.Gly531=) single nucleotide variant not provided [RCV002948929] Chr7:98910298 [GRCh38]
Chr7:98507921 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11094C>T (p.Phe3698=) single nucleotide variant not provided [RCV002620532] Chr7:99011207 [GRCh38]
Chr7:98608830 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6395G>A (p.Arg2132Gln) single nucleotide variant not provided [RCV002706316] Chr7:98959396 [GRCh38]
Chr7:98557019 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6209C>T (p.Thr2070Met) single nucleotide variant not provided [RCV002909887] Chr7:98956511 [GRCh38]
Chr7:98554134 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8046T>C (p.Phe2682=) single nucleotide variant not provided [RCV002636299] Chr7:98976569 [GRCh38]
Chr7:98574192 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6127G>A (p.Gly2043Arg) single nucleotide variant not provided [RCV002590821] Chr7:98956429 [GRCh38]
Chr7:98554052 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7739C>T (p.Thr2580Met) single nucleotide variant Inborn genetic diseases [RCV003269506]|not provided [RCV002637035] Chr7:98971845 [GRCh38]
Chr7:98569468 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1207G>A (p.Ala403Thr) single nucleotide variant Inborn genetic diseases [RCV002978088]|not provided [RCV003561137] Chr7:98908819 [GRCh38]
Chr7:98506442 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11337+20T>C single nucleotide variant not provided [RCV003053868] Chr7:99011555 [GRCh38]
Chr7:98609178 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8794G>A (p.Val2932Ile) single nucleotide variant not provided [RCV002976568] Chr7:98981928 [GRCh38]
Chr7:98579551 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3479G>T (p.Gly1160Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV002795943] Chr7:98930718 [GRCh38]
Chr7:98528341 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.2824-15G>C single nucleotide variant not provided [RCV002590429] Chr7:98925097 [GRCh38]
Chr7:98522720 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.801-12_801-8del deletion not provided [RCV002846358] Chr7:98900608..98900612 [GRCh38]
Chr7:98498231..98498235 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8095G>A (p.Val2699Ile) single nucleotide variant not provided [RCV002569888] Chr7:98976618 [GRCh38]
Chr7:98574241 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.6532C>A (p.Leu2178Ile) single nucleotide variant not provided [RCV002979891] Chr7:98961303 [GRCh38]
Chr7:98558926 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10755G>A (p.Val3585=) single nucleotide variant not provided [RCV003054641] Chr7:99008378 [GRCh38]
Chr7:98606001 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5560A>G (p.Ile1854Val) single nucleotide variant Inborn genetic diseases [RCV002692489] Chr7:98953263 [GRCh38]
Chr7:98550886 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4405-15G>A single nucleotide variant not provided [RCV002622146] Chr7:98942934 [GRCh38]
Chr7:98540557 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10753+5G>T single nucleotide variant Inborn genetic diseases [RCV002757455] Chr7:99005353 [GRCh38]
Chr7:98602976 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8460T>C (p.Ile2820=) single nucleotide variant not provided [RCV002979034] Chr7:98978285 [GRCh38]
Chr7:98575908 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8034G>A (p.Ala2678=) single nucleotide variant not provided [RCV002979513] Chr7:98976557 [GRCh38]
Chr7:98574180 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7513-13G>A single nucleotide variant not provided [RCV002795332] Chr7:98970099 [GRCh38]
Chr7:98567722 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11357C>T (p.Thr3786Met) single nucleotide variant not provided [RCV002823904] Chr7:99012090 [GRCh38]
Chr7:98609713 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8659A>G (p.Met2887Val) single nucleotide variant not provided [RCV003036236] Chr7:98981793 [GRCh38]
Chr7:98579416 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7623C>T (p.Ala2541=) single nucleotide variant not provided [RCV002923863] Chr7:98970222 [GRCh38]
Chr7:98567845 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11043G>A (p.Thr3681=) single nucleotide variant not provided [RCV002591207] Chr7:99011156 [GRCh38]
Chr7:98608779 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10047+13G>C single nucleotide variant not provided [RCV002639399] Chr7:98993750 [GRCh38]
Chr7:98591373 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11416C>T (p.Pro3806Ser) single nucleotide variant not provided [RCV002948979] Chr7:99012149 [GRCh38]
Chr7:98609772 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6097-5T>G single nucleotide variant not provided [RCV002592098] Chr7:98956394 [GRCh38]
Chr7:98554017 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3059A>G (p.Gln1020Arg) single nucleotide variant not provided [RCV002885507] Chr7:98927250 [GRCh38]
Chr7:98524873 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11430C>T (p.Ala3810=) single nucleotide variant TRRAP-related disorder [RCV004550444]|not provided [RCV002637860] Chr7:99012163 [GRCh38]
Chr7:98609786 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3741A>G (p.Arg1247=) single nucleotide variant not provided [RCV003021249] Chr7:98931554 [GRCh38]
Chr7:98529177 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8645G>A (p.Ser2882Asn) single nucleotide variant not provided [RCV002618947] Chr7:98981779 [GRCh38]
Chr7:98579402 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.3729C>T (p.His1243=) single nucleotide variant not provided [RCV002923963] Chr7:98931542 [GRCh38]
Chr7:98529165 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7890G>A (p.Thr2630=) single nucleotide variant not provided [RCV002620024] Chr7:98976199 [GRCh38]
Chr7:98573822 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3087T>C (p.Ala1029=) single nucleotide variant not provided [RCV003053521] Chr7:98927278 [GRCh38]
Chr7:98524901 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9847+4C>T single nucleotide variant not provided [RCV003100190] Chr7:98992231 [GRCh38]
Chr7:98589854 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7692+20A>G single nucleotide variant not provided [RCV003037828] Chr7:98970311 [GRCh38]
Chr7:98567934 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11277C>T (p.Ser3759=) single nucleotide variant not provided [RCV002780282] Chr7:99011475 [GRCh38]
Chr7:98609098 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9966A>G (p.Arg3322=) single nucleotide variant not provided [RCV002636728] Chr7:98993656 [GRCh38]
Chr7:98591279 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1727T>C (p.Ile576Thr) single nucleotide variant Inborn genetic diseases [RCV003002305]|not provided [RCV003002304] Chr7:98910522 [GRCh38]
Chr7:98508145 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.5475C>T (p.Pro1825=) single nucleotide variant not provided [RCV002621073] Chr7:98953178 [GRCh38]
Chr7:98550801 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10536-10G>A single nucleotide variant not provided [RCV002780442] Chr7:99005121 [GRCh38]
Chr7:98602744 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8805C>T (p.His2935=) single nucleotide variant not provided [RCV002621764] Chr7:98981939 [GRCh38]
Chr7:98579562 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8397C>T (p.Ser2799=) single nucleotide variant not provided [RCV002622321] Chr7:98978222 [GRCh38]
Chr7:98575845 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10089C>T (p.Ser3363=) single nucleotide variant not provided [RCV003002335] Chr7:98994628 [GRCh38]
Chr7:98592251 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4761C>T (p.Asn1587=) single nucleotide variant not provided [RCV003079862] Chr7:98948658 [GRCh38]
Chr7:98546281 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9022+25A>G single nucleotide variant Inborn genetic diseases [RCV002739316] Chr7:98983484 [GRCh38]
Chr7:98581107 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6096+19G>A single nucleotide variant not provided [RCV002885445] Chr7:98956323 [GRCh38]
Chr7:98553946 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7176+13G>A single nucleotide variant not provided [RCV002592728] Chr7:98965908 [GRCh38]
Chr7:98563531 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4905G>A (p.Ser1635=) single nucleotide variant not provided [RCV003077559] Chr7:98949533 [GRCh38]
Chr7:98547156 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10985G>A (p.Arg3662His) single nucleotide variant not provided [RCV002569950] Chr7:99011098 [GRCh38]
Chr7:98608721 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1972A>C (p.Met658Leu) single nucleotide variant Inborn genetic diseases [RCV002925871] Chr7:98911236 [GRCh38]
Chr7:98508859 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8385+20C>T single nucleotide variant not provided [RCV002622198] Chr7:98977096 [GRCh38]
Chr7:98574719 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.625A>G (p.Thr209Ala) single nucleotide variant Inborn genetic diseases [RCV002707168]|not provided [RCV003140154] Chr7:98897858 [GRCh38]
Chr7:98495481 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.8780G>C (p.Arg2927Pro) single nucleotide variant not provided [RCV002638966] Chr7:98981914 [GRCh38]
Chr7:98579537 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6216C>T (p.Thr2072=) single nucleotide variant TRRAP-related disorder [RCV004550423]|not provided [RCV002619487] Chr7:98956518 [GRCh38]
Chr7:98554141 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6984C>T (p.Ser2328=) single nucleotide variant not provided [RCV003079955] Chr7:98965703 [GRCh38]
Chr7:98563326 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2651C>G (p.Ala884Gly) single nucleotide variant not provided [RCV002621872] Chr7:98921781 [GRCh38]
Chr7:98519404 [GRCh37]
Chr7:7q22.1
benign|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.8498+18C>T single nucleotide variant not provided [RCV003018353] Chr7:98978341 [GRCh38]
Chr7:98575964 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6877A>G (p.Ile2293Val) single nucleotide variant Inborn genetic diseases [RCV002654776]|not provided [RCV002638314] Chr7:98964676 [GRCh38]
Chr7:98562299 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3643A>G (p.Met1215Val) single nucleotide variant Inborn genetic diseases [RCV002692157] Chr7:98931456 [GRCh38]
Chr7:98529079 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8235C>A (p.Thr2745=) single nucleotide variant not provided [RCV002736624] Chr7:98976758 [GRCh38]
Chr7:98574381 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1467T>C (p.Thr489=) single nucleotide variant not provided [RCV003080819] Chr7:98910172 [GRCh38]
Chr7:98507795 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4415G>A (p.Arg1472His) single nucleotide variant not provided [RCV002885144] Chr7:98942959 [GRCh38]
Chr7:98540582 [GRCh37]
Chr7:7q22.1
benign|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.1221C>T (p.Asp407=) single nucleotide variant not provided [RCV003080465] Chr7:98908833 [GRCh38]
Chr7:98506456 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1459G>T (p.Val487Leu) single nucleotide variant Inborn genetic diseases [RCV002926745]|not provided [RCV002926744] Chr7:98910164 [GRCh38]
Chr7:98507787 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.2622+18T>A single nucleotide variant not provided [RCV002621920] Chr7:98917697 [GRCh38]
Chr7:98515320 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8498+12A>G single nucleotide variant not provided [RCV002658550] Chr7:98978335 [GRCh38]
Chr7:98575958 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1938G>A (p.Thr646=) single nucleotide variant not provided [RCV002761404] Chr7:98911202 [GRCh38]
Chr7:98508825 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1116-18C>T single nucleotide variant not provided [RCV002781541] Chr7:98908710 [GRCh38]
Chr7:98506333 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10938+4G>A single nucleotide variant not provided [RCV003082009] Chr7:99008565 [GRCh38]
Chr7:98606188 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.6365C>T (p.Ala2122Val) single nucleotide variant not provided [RCV002982636] Chr7:98959366 [GRCh38]
Chr7:98556989 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9022+17C>T single nucleotide variant not provided [RCV002790294] Chr7:98983476 [GRCh38]
Chr7:98581099 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8247+11G>A single nucleotide variant not provided [RCV002790303] Chr7:98976781 [GRCh38]
Chr7:98574404 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5604C>T (p.Leu1868=) single nucleotide variant not provided [RCV002700109] Chr7:98953307 [GRCh38]
Chr7:98550930 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2446C>T (p.Arg816Trp) single nucleotide variant not provided [RCV003008149] Chr7:98917503 [GRCh38]
Chr7:98515126 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5070G>A (p.Glu1690=) single nucleotide variant not provided [RCV002597258] Chr7:98949776 [GRCh38]
Chr7:98547399 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1357G>A (p.Val453Ile) single nucleotide variant not provided [RCV002575271] Chr7:98910062 [GRCh38]
Chr7:98507685 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2199+13T>A single nucleotide variant not provided [RCV002790881] Chr7:98912226 [GRCh38]
Chr7:98509849 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1658T>C (p.Leu553Ser) single nucleotide variant not provided [RCV002508480] Chr7:98910363 [GRCh38]
Chr7:98507986 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.633+11C>T single nucleotide variant not provided [RCV002790357] Chr7:98897877 [GRCh38]
Chr7:98495500 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9847+20G>T single nucleotide variant not provided [RCV002575829] Chr7:98992247 [GRCh38]
Chr7:98589870 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8529C>T (p.Ala2843=) single nucleotide variant not provided [RCV002667480] Chr7:98978799 [GRCh38]
Chr7:98576422 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2008-14T>A single nucleotide variant not provided [RCV002790897] Chr7:98912008 [GRCh38]
Chr7:98509631 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11173C>A (p.Arg3725=) single nucleotide variant not provided [RCV003025031] Chr7:99011371 [GRCh38]
Chr7:98608994 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11193G>A (p.Ala3731=) single nucleotide variant not provided [RCV003085419] Chr7:99011391 [GRCh38]
Chr7:98609014 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10673G>A (p.Arg3558His) single nucleotide variant not provided [RCV003043141] Chr7:99005268 [GRCh38]
Chr7:98602891 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3853-12T>C single nucleotide variant not provided [RCV002786519] Chr7:98933229 [GRCh38]
Chr7:98530852 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9102T>C (p.Ala3034=) single nucleotide variant not provided [RCV003023961] Chr7:98984172 [GRCh38]
Chr7:98581795 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10638C>T (p.Asn3546=) single nucleotide variant not provided [RCV003084785] Chr7:99005233 [GRCh38]
Chr7:98602856 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6701C>T (p.Pro2234Leu) single nucleotide variant not provided [RCV002828975] Chr7:98961472 [GRCh38]
Chr7:98559095 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.633+12G>A single nucleotide variant not provided [RCV002596464] Chr7:98897878 [GRCh38]
Chr7:98495501 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11337+16G>A single nucleotide variant not provided [RCV002596950] Chr7:99011551 [GRCh38]
Chr7:98609174 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10090G>A (p.Val3364Met) single nucleotide variant not provided [RCV002627042] Chr7:98994629 [GRCh38]
Chr7:98592252 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10120G>A (p.Asp3374Asn) single nucleotide variant Inborn genetic diseases [RCV002854571] Chr7:98994659 [GRCh38]
Chr7:98592282 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10939-18C>T single nucleotide variant not provided [RCV002959055] Chr7:99011034 [GRCh38]
Chr7:98608657 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5790G>A (p.Ala1930=) single nucleotide variant not provided [RCV003085605] Chr7:98955157 [GRCh38]
Chr7:98552780 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2773A>G (p.Thr925Ala) single nucleotide variant not provided [RCV002575082] Chr7:98921903 [GRCh38]
Chr7:98519526 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.8077A>G (p.Ile2693Val) single nucleotide variant not provided [RCV002667820] Chr7:98976600 [GRCh38]
Chr7:98574223 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10113G>A (p.Ala3371=) single nucleotide variant not provided [RCV002985537] Chr7:98994652 [GRCh38]
Chr7:98592275 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1847G>A (p.Arg616His) single nucleotide variant not provided [RCV003059827] Chr7:98911111 [GRCh38]
Chr7:98508734 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8037G>A (p.Leu2679=) single nucleotide variant not provided [RCV002959036] Chr7:98976560 [GRCh38]
Chr7:98574183 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5910T>C (p.Ile1970=) single nucleotide variant not provided [RCV003025920] Chr7:98955277 [GRCh38]
Chr7:98552900 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6750C>T (p.Tyr2250=) single nucleotide variant not provided [RCV002643984] Chr7:98962348 [GRCh38]
Chr7:98559971 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8702G>C (p.Cys2901Ser) single nucleotide variant not provided [RCV002894929]|not specified [RCV003331395] Chr7:98981836 [GRCh38]
Chr7:98579459 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2872T>C (p.Tyr958His) single nucleotide variant Inborn genetic diseases [RCV002854149] Chr7:98925160 [GRCh38]
Chr7:98522783 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1318A>T (p.Asn440Tyr) single nucleotide variant not provided [RCV002575629] Chr7:98908930 [GRCh38]
Chr7:98506553 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6554T>C (p.Leu2185Pro) single nucleotide variant Inborn genetic diseases [RCV003006817]|not provided [RCV003720728] Chr7:98961325 [GRCh38]
Chr7:98558948 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.6556A>G (p.Thr2186Ala) single nucleotide variant Inborn genetic diseases [RCV003006818]|not provided [RCV003720729] Chr7:98961327 [GRCh38]
Chr7:98558950 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.10873C>G (p.Pro3625Ala) single nucleotide variant not provided [RCV002745692] Chr7:99008496 [GRCh38]
Chr7:98606119 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4829T>G (p.Val1610Gly) single nucleotide variant not provided [RCV002917300] Chr7:98949457 [GRCh38]
Chr7:98547080 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5192G>A (p.Arg1731His) single nucleotide variant not provided [RCV002953936] Chr7:98950120 [GRCh38]
Chr7:98547743 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1194C>T (p.Ala398=) single nucleotide variant not provided [RCV002786493] Chr7:98908806 [GRCh38]
Chr7:98506429 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10753+6G>T single nucleotide variant TRRAP-related disorder [RCV004548373]|not provided [RCV002852297] Chr7:99005354 [GRCh38]
Chr7:98602977 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7800C>T (p.Asn2600=) single nucleotide variant not provided [RCV002711243] Chr7:98971906 [GRCh38]
Chr7:98569529 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5454T>C (p.Phe1818=) single nucleotide variant TRRAP-related disorder [RCV004548314]|not provided [RCV002572551] Chr7:98950995 [GRCh38]
Chr7:98548618 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3301G>T (p.Ala1101Ser) single nucleotide variant not provided [RCV002508478] Chr7:98930114 [GRCh38]
Chr7:98527737 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7693-14G>T single nucleotide variant not provided [RCV002572317] Chr7:98971785 [GRCh38]
Chr7:98569408 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4275A>G (p.Thr1425=) single nucleotide variant not provided [RCV002594063] Chr7:98937691 [GRCh38]
Chr7:98535314 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7216A>G (p.Met2406Val) single nucleotide variant not provided [RCV002595096] Chr7:98967080 [GRCh38]
Chr7:98564703 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.842T>C (p.Ile281Thr) single nucleotide variant not provided [RCV002593590] Chr7:98900665 [GRCh38]
Chr7:98498288 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10984C>T (p.Arg3662Cys) single nucleotide variant not provided [RCV002572325] Chr7:99011097 [GRCh38]
Chr7:98608720 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7329G>A (p.Thr2443=) single nucleotide variant not provided [RCV002953978] Chr7:98967515 [GRCh38]
Chr7:98565138 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.402A>G (p.Arg134=) single nucleotide variant not provided [RCV002593618] Chr7:98893833 [GRCh38]
Chr7:98491456 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8535G>A (p.Thr2845=) single nucleotide variant not provided [RCV002643850] Chr7:98978805 [GRCh38]
Chr7:98576428 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.158C>T (p.Thr53Met) single nucleotide variant Inborn genetic diseases [RCV002763454] Chr7:98890342 [GRCh38]
Chr7:98487965 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9288+16T>C single nucleotide variant not provided [RCV002643094] Chr7:98984374 [GRCh38]
Chr7:98581997 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3066G>A (p.Leu1022=) single nucleotide variant not provided [RCV002711561] Chr7:98927257 [GRCh38]
Chr7:98524880 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5292A>G (p.Val1764=) single nucleotide variant not provided [RCV002666674] Chr7:98950220 [GRCh38]
Chr7:98547843 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10147A>C (p.Asn3383His) single nucleotide variant not provided [RCV002982127] Chr7:98994686 [GRCh38]
Chr7:98592309 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6343-4C>G single nucleotide variant not provided [RCV003083205] Chr7:98959340 [GRCh38]
Chr7:98556963 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7839+12G>A single nucleotide variant not provided [RCV002765447] Chr7:98971957 [GRCh38]
Chr7:98569580 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11460A>G (p.Gln3820=) single nucleotide variant not provided [RCV002786175] Chr7:99012193 [GRCh38]
Chr7:98609816 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5487G>A (p.Ala1829=) single nucleotide variant not provided [RCV002954400] Chr7:98953190 [GRCh38]
Chr7:98550813 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2586C>T (p.Tyr862=) single nucleotide variant not provided [RCV002917751] Chr7:98917643 [GRCh38]
Chr7:98515266 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1561C>G (p.Pro521Ala) single nucleotide variant not provided [RCV002985358] Chr7:98910266 [GRCh38]
Chr7:98507889 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10983G>A (p.Pro3661=) single nucleotide variant not provided [RCV002982561] Chr7:99011096 [GRCh38]
Chr7:98608719 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4233+18_4233+21del microsatellite not provided [RCV002597093] Chr7:98937288..98937291 [GRCh38]
Chr7:98534911..98534914 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2903A>G (p.Lys968Arg) single nucleotide variant Inborn genetic diseases [RCV002804309]|not provided [RCV003565585] Chr7:98925191 [GRCh38]
Chr7:98522814 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.8826+16C>G single nucleotide variant not provided [RCV002711906] Chr7:98981976 [GRCh38]
Chr7:98579599 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.840C>T (p.Phe280=) single nucleotide variant not provided [RCV002851964] Chr7:98900663 [GRCh38]
Chr7:98498286 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4879G>A (p.Ala1627Thr) single nucleotide variant not provided [RCV002626528] Chr7:98949507 [GRCh38]
Chr7:98547130 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9756+12A>C single nucleotide variant not provided [RCV002710483] Chr7:98990631 [GRCh38]
Chr7:98588254 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6329G>A (p.Arg2110His) single nucleotide variant not provided [RCV002594576] Chr7:98958078 [GRCh38]
Chr7:98555701 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5137A>G (p.Arg1713Gly) single nucleotide variant not provided [RCV002508376] Chr7:98950065 [GRCh38]
Chr7:98547688 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7364G>A (p.Arg2455His) single nucleotide variant not provided [RCV002596573] Chr7:98967550 [GRCh38]
Chr7:98565173 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.7518T>G (p.Leu2506=) single nucleotide variant not provided [RCV003023055] Chr7:98970117 [GRCh38]
Chr7:98567740 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10753+15C>T single nucleotide variant not provided [RCV002574068] Chr7:99005363 [GRCh38]
Chr7:98602986 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7417A>G (p.Met2473Val) single nucleotide variant Inborn genetic diseases [RCV002803993] Chr7:98967603 [GRCh38]
Chr7:98565226 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.736G>A (p.Val246Ile) single nucleotide variant not provided [RCV003043140] Chr7:98899703 [GRCh38]
Chr7:98497326 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11338-14T>C single nucleotide variant not provided [RCV002594350] Chr7:99012057 [GRCh38]
Chr7:98609680 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3175+10G>A single nucleotide variant not provided [RCV002917858] Chr7:98927376 [GRCh38]
Chr7:98524999 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7331C>T (p.Ala2444Val) single nucleotide variant Inborn genetic diseases [RCV002786370]|not provided [RCV002786371] Chr7:98967517 [GRCh38]
Chr7:98565140 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.8148G>A (p.Met2716Ile) single nucleotide variant not provided [RCV002801292] Chr7:98976671 [GRCh38]
Chr7:98574294 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10247G>A (p.Arg3416Gln) single nucleotide variant not provided [RCV002626081] Chr7:98994786 [GRCh38]
Chr7:98592409 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.532G>A (p.Val178Met) single nucleotide variant not provided [RCV002790542] Chr7:98897765 [GRCh38]
Chr7:98495388 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3599A>G (p.Asn1200Ser) single nucleotide variant Inborn genetic diseases [RCV002645666]|not provided [RCV002626631] Chr7:98931412 [GRCh38]
Chr7:98529035 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.9597G>A (p.Leu3199=) single nucleotide variant not provided [RCV002667683] Chr7:98990460 [GRCh38]
Chr7:98588083 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3175+9G>A single nucleotide variant not provided [RCV002741244] Chr7:98927375 [GRCh38]
Chr7:98524998 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2520A>T (p.Thr840=) single nucleotide variant not provided [RCV002766921] Chr7:98917577 [GRCh38]
Chr7:98515200 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8772C>T (p.Arg2924=) single nucleotide variant not provided [RCV002626915] Chr7:98981906 [GRCh38]
Chr7:98579529 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4671G>A (p.Ala1557=) single nucleotide variant TRRAP-related disorder [RCV004548416]|not provided [RCV002933204] Chr7:98948568 [GRCh38]
Chr7:98546191 [GRCh37]
Chr7:7q22.1
benign|likely benign|uncertain significance
NM_001375524.1(TRRAP):c.1485C>T (p.Gly495=) single nucleotide variant not provided [RCV002801325] Chr7:98910190 [GRCh38]
Chr7:98507813 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3126C>T (p.Val1042=) single nucleotide variant not provided [RCV002624324] Chr7:98927317 [GRCh38]
Chr7:98524940 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4068T>C (p.Tyr1356=) single nucleotide variant not provided [RCV002595320] Chr7:98935632 [GRCh38]
Chr7:98533255 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4233+18C>T single nucleotide variant not provided [RCV002574899] Chr7:98937295 [GRCh38]
Chr7:98534918 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7589A>G (p.Asn2530Ser) single nucleotide variant not provided [RCV002575183] Chr7:98970188 [GRCh38]
Chr7:98567811 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1119C>G (p.Pro373=) single nucleotide variant not provided [RCV002667444] Chr7:98908731 [GRCh38]
Chr7:98506354 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2598G>A (p.Gln866=) single nucleotide variant not provided [RCV003055828] Chr7:98917655 [GRCh38]
Chr7:98515278 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3204G>A (p.Val1068=) single nucleotide variant not provided [RCV002710156] Chr7:98930017 [GRCh38]
Chr7:98527640 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9591+11A>G single nucleotide variant not provided [RCV002663219] Chr7:98988977 [GRCh38]
Chr7:98586600 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8207C>T (p.Thr2736Met) single nucleotide variant Inborn genetic diseases [RCV004070778]|not provided [RCV002624626] Chr7:98976730 [GRCh38]
Chr7:98574353 [GRCh37]
Chr7:7q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.8355T>A (p.Ile2785=) single nucleotide variant TRRAP-related disorder [RCV004548437]|not provided [RCV002954421] Chr7:98977046 [GRCh38]
Chr7:98574669 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.705G>A (p.Met235Ile) single nucleotide variant not provided [RCV002667247] Chr7:98899493 [GRCh38]
Chr7:98497116 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.800+8G>A single nucleotide variant not provided [RCV002572777] Chr7:98899775 [GRCh38]
Chr7:98497398 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8644A>G (p.Ser2882Gly) single nucleotide variant not provided [RCV002508374] Chr7:98981778 [GRCh38]
Chr7:98579401 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7127A>G (p.Lys2376Arg) single nucleotide variant not provided [RCV002828624] Chr7:98965846 [GRCh38]
Chr7:98563469 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4014+18C>T single nucleotide variant not provided [RCV002790062] Chr7:98933420 [GRCh38]
Chr7:98531043 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3807G>C (p.Gln1269His) single nucleotide variant not provided [RCV002594119] Chr7:98931620 [GRCh38]
Chr7:98529243 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.1529C>T (p.Pro510Leu) single nucleotide variant not provided [RCV002575738] Chr7:98910234 [GRCh38]
Chr7:98507857 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7987C>T (p.Leu2663=) single nucleotide variant not provided [RCV003007425] Chr7:98976510 [GRCh38]
Chr7:98574133 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6704-12G>T single nucleotide variant not provided [RCV002700885] Chr7:98962290 [GRCh38]
Chr7:98559913 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7839+8C>T single nucleotide variant not provided [RCV002574645] Chr7:98971953 [GRCh38]
Chr7:98569576 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7590C>T (p.Asn2530=) single nucleotide variant not provided [RCV002593729] Chr7:98970189 [GRCh38]
Chr7:98567812 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9108G>A (p.Ala3036=) single nucleotide variant not provided [RCV003084012] Chr7:98984178 [GRCh38]
Chr7:98581801 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6174C>T (p.Ser2058=) single nucleotide variant not provided [RCV002575091] Chr7:98956476 [GRCh38]
Chr7:98554099 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5191C>T (p.Arg1731Cys) single nucleotide variant not provided [RCV002700576] Chr7:98950119 [GRCh38]
Chr7:98547742 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7693-15del deletion not provided [RCV002786461] Chr7:98971784 [GRCh38]
Chr7:98569407 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.7148A>G (p.Lys2383Arg) single nucleotide variant not provided [RCV002666930] Chr7:98965867 [GRCh38]
Chr7:98563490 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2623-11C>A single nucleotide variant not provided [RCV002593785] Chr7:98921742 [GRCh38]
Chr7:98519365 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10615A>G (p.Ile3539Val) single nucleotide variant not provided [RCV003040516] Chr7:99005210 [GRCh38]
Chr7:98602833 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8463C>A (p.Phe2821Leu) single nucleotide variant Inborn genetic diseases [RCV002712301] Chr7:98978288 [GRCh38]
Chr7:98575911 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6G>A (p.Ala2=) single nucleotide variant Inborn genetic diseases [RCV002932827]|not provided [RCV002918848] Chr7:98881156 [GRCh38]
Chr7:98478779 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9262G>A (p.Val3088Ile) single nucleotide variant TRRAP-related disorder [RCV004550362]|not provided [RCV003056657] Chr7:98984332 [GRCh38]
Chr7:98581955 [GRCh37]
Chr7:7q22.1
benign|likely benign|uncertain significance
NM_001375524.1(TRRAP):c.6252G>A (p.Ser2084=) single nucleotide variant not provided [RCV002596070] Chr7:98958001 [GRCh38]
Chr7:98555624 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.531A>G (p.Gln177=) single nucleotide variant TRRAP-related disorder [RCV004548424]|not provided [RCV002928546] Chr7:98897764 [GRCh38]
Chr7:98495387 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.640A>G (p.Ile214Val) single nucleotide variant Inborn genetic diseases [RCV002742500]|not provided [RCV003777706] Chr7:98899428 [GRCh38]
Chr7:98497051 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10741T>C (p.Leu3581=) single nucleotide variant not provided [RCV002666889] Chr7:99005336 [GRCh38]
Chr7:98602959 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4234-3T>A single nucleotide variant Inborn genetic diseases [RCV002712334] Chr7:98937647 [GRCh38]
Chr7:98535270 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10982C>T (p.Pro3661Leu) single nucleotide variant not provided [RCV002928586] Chr7:99011095 [GRCh38]
Chr7:98608718 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4086C>G (p.Leu1362=) single nucleotide variant not provided [RCV002596887] Chr7:98935650 [GRCh38]
Chr7:98533273 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3175+16C>T single nucleotide variant not provided [RCV002593937] Chr7:98927382 [GRCh38]
Chr7:98525005 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5163G>A (p.Leu1721=) single nucleotide variant not provided [RCV002666998] Chr7:98950091 [GRCh38]
Chr7:98547714 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9204C>T (p.Ile3068=) single nucleotide variant not provided [RCV002918721] Chr7:98984274 [GRCh38]
Chr7:98581897 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8641G>A (p.Val2881Met) single nucleotide variant not provided [RCV002790615] Chr7:98981775 [GRCh38]
Chr7:98579398 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.367-3del deletion not provided [RCV002983051] Chr7:98893788 [GRCh38]
Chr7:98491411 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4875G>C (p.Gly1625=) single nucleotide variant not provided [RCV003057459] Chr7:98949503 [GRCh38]
Chr7:98547126 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3150G>A (p.Thr1050=) single nucleotide variant not provided [RCV002957516] Chr7:98927341 [GRCh38]
Chr7:98524964 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1813-5A>G single nucleotide variant not provided [RCV002600853] Chr7:98911072 [GRCh38]
Chr7:98508695 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.262-11T>A single nucleotide variant not provided [RCV003063763] Chr7:98892413 [GRCh38]
Chr7:98490036 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1345C>T (p.Leu449=) single nucleotide variant not provided [RCV002967265] Chr7:98908957 [GRCh38]
Chr7:98506580 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2898G>T (p.Val966=) single nucleotide variant not provided [RCV002941904] Chr7:98925186 [GRCh38]
Chr7:98522809 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9645C>T (p.Val3215=) single nucleotide variant not provided [RCV002967256] Chr7:98990508 [GRCh38]
Chr7:98588131 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3129C>A (p.Ala1043=) single nucleotide variant not provided [RCV003048154] Chr7:98927320 [GRCh38]
Chr7:98524943 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3004A>G (p.Ile1002Val) single nucleotide variant not provided [RCV002650583] Chr7:98927195 [GRCh38]
Chr7:98524818 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5335-5del deletion not provided [RCV002580192] Chr7:98950864 [GRCh38]
Chr7:98548487 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3556G>T (p.Ala1186Ser) single nucleotide variant Inborn genetic diseases [RCV002941387] Chr7:98930795 [GRCh38]
Chr7:98528418 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9269G>T (p.Gly3090Val) single nucleotide variant not provided [RCV002646582] Chr7:98984339 [GRCh38]
Chr7:98581962 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.29C>T (p.Thr10Met) single nucleotide variant not provided [RCV002720211] Chr7:98881179 [GRCh38]
Chr7:98478802 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1134G>A (p.Thr378=) single nucleotide variant not provided [RCV002598672] Chr7:98908746 [GRCh38]
Chr7:98506369 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2824-7G>A single nucleotide variant not provided [RCV002601008] Chr7:98925105 [GRCh38]
Chr7:98522728 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9288+4C>A single nucleotide variant TRRAP-related disorder [RCV004548411]|not provided [RCV002937765] Chr7:98984362 [GRCh38]
Chr7:98581985 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.11395dup (p.Thr3799fs) duplication not provided [RCV003031974] Chr7:99012121..99012122 [GRCh38]
Chr7:98609744..98609745 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1228T>C (p.Ser410Pro) single nucleotide variant Inborn genetic diseases [RCV002652296] Chr7:98908840 [GRCh38]
Chr7:98506463 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.942C>G (p.Leu314=) single nucleotide variant not provided [RCV002602585] Chr7:98903423 [GRCh38]
Chr7:98501046 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10536-11C>T single nucleotide variant not provided [RCV002576492] Chr7:99005120 [GRCh38]
Chr7:98602743 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8300T>C (p.Met2767Thr) single nucleotide variant not provided [RCV002715219] Chr7:98976991 [GRCh38]
Chr7:98574614 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.9333A>G (p.Lys3111=) single nucleotide variant not provided [RCV003048510] Chr7:98984988 [GRCh38]
Chr7:98582611 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8595G>A (p.Arg2865=) single nucleotide variant not provided [RCV002602015] Chr7:98978865 [GRCh38]
Chr7:98576488 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7424G>A (p.Arg2475His) single nucleotide variant not provided [RCV003091744] Chr7:98967610 [GRCh38]
Chr7:98565233 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.11264C>T (p.Thr3755Ile) single nucleotide variant not provided [RCV003091391] Chr7:99011462 [GRCh38]
Chr7:98609085 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5949G>A (p.Pro1983=) single nucleotide variant not provided [RCV002600477] Chr7:98956157 [GRCh38]
Chr7:98553780 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7026G>T (p.Leu2342=) single nucleotide variant not provided [RCV003063574] Chr7:98965745 [GRCh38]
Chr7:98563368 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10048-6T>C single nucleotide variant not provided [RCV003091629] Chr7:98994581 [GRCh38]
Chr7:98592204 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9345C>T (p.Ala3115=) single nucleotide variant not provided [RCV003065531] Chr7:98985000 [GRCh38]
Chr7:98582623 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5464-7T>G single nucleotide variant not provided [RCV002770421] Chr7:98953160 [GRCh38]
Chr7:98550783 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11427C>T (p.Ala3809=) single nucleotide variant not provided [RCV002938381] Chr7:99012160 [GRCh38]
Chr7:98609783 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.611G>A (p.Arg204His) single nucleotide variant not provided [RCV003031565] Chr7:98897844 [GRCh38]
Chr7:98495467 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8274T>C (p.Leu2758=) single nucleotide variant TRRAP-related disorder [RCV004550436]|not provided [RCV002628188] Chr7:98976965 [GRCh38]
Chr7:98574588 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.4891G>C (p.Val1631Leu) single nucleotide variant not provided [RCV002597513] Chr7:98949519 [GRCh38]
Chr7:98547142 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9423T>A (p.Ala3141=) single nucleotide variant not provided [RCV003086697] Chr7:98988798 [GRCh38]
Chr7:98586421 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1715-5T>C single nucleotide variant not provided [RCV002962488] Chr7:98910505 [GRCh38]
Chr7:98508128 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9297A>G (p.Glu3099=) single nucleotide variant not provided [RCV003043868] Chr7:98984952 [GRCh38]
Chr7:98582575 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4868T>A (p.Leu1623Gln) single nucleotide variant not provided [RCV002715568] Chr7:98949496 [GRCh38]
Chr7:98547119 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7320C>T (p.Ser2440=) single nucleotide variant not provided [RCV002627711] Chr7:98967506 [GRCh38]
Chr7:98565129 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11160T>C (p.Asn3720=) single nucleotide variant not provided [RCV002933721] Chr7:99011358 [GRCh38]
Chr7:98608981 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3674A>G (p.Glu1225Gly) single nucleotide variant not provided [RCV002627740] Chr7:98931487 [GRCh38]
Chr7:98529110 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11248T>G (p.Ser3750Ala) single nucleotide variant Inborn genetic diseases [RCV002959716] Chr7:99011446 [GRCh38]
Chr7:98609069 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4635T>C (p.Val1545=) single nucleotide variant not provided [RCV002717370] Chr7:98948307 [GRCh38]
Chr7:98545930 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11292G>A (p.Ala3764=) single nucleotide variant not provided [RCV002647360] Chr7:99011490 [GRCh38]
Chr7:98609113 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8067C>T (p.Cys2689=) single nucleotide variant not provided [RCV002715812] Chr7:98976590 [GRCh38]
Chr7:98574213 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9193A>G (p.Thr3065Ala) single nucleotide variant not provided [RCV003011345] Chr7:98984263 [GRCh38]
Chr7:98581886 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4929G>A (p.Leu1643=) single nucleotide variant not provided [RCV002715632] Chr7:98949557 [GRCh38]
Chr7:98547180 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9280T>G (p.Cys3094Gly) single nucleotide variant Inborn genetic diseases [RCV003010667] Chr7:98984350 [GRCh38]
Chr7:98581973 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9289-7dup duplication not provided [RCV002600385] Chr7:98984929..98984930 [GRCh38]
Chr7:98582552..98582553 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3028C>G (p.Gln1010Glu) single nucleotide variant Inborn genetic diseases [RCV002747303] Chr7:98927219 [GRCh38]
Chr7:98524842 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4872G>A (p.Pro1624=) single nucleotide variant not provided [RCV002579835] Chr7:98949500 [GRCh38]
Chr7:98547123 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6268T>G (p.Ser2090Ala) single nucleotide variant not provided [RCV002806138] Chr7:98958017 [GRCh38]
Chr7:98555640 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11522A>G (p.Gln3841Arg) single nucleotide variant Inborn genetic diseases [RCV002703083] Chr7:99012255 [GRCh38]
Chr7:98609878 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1521_1526del (p.Pro514_Pro515del) deletion not provided [RCV002578232] Chr7:98910221..98910226 [GRCh38]
Chr7:98507844..98507849 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10044A>G (p.Glu3348=) single nucleotide variant not provided [RCV002962369] Chr7:98993734 [GRCh38]
Chr7:98591357 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.486C>T (p.Tyr162=) single nucleotide variant not provided [RCV002671643] Chr7:98895799 [GRCh38]
Chr7:98493422 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4162G>A (p.Ala1388Thr) single nucleotide variant not provided [RCV002630360] Chr7:98937206 [GRCh38]
Chr7:98534829 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8267C>T (p.Ala2756Val) single nucleotide variant Inborn genetic diseases [RCV002669524]|not provided [RCV003108158] Chr7:98976958 [GRCh38]
Chr7:98574581 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.10683G>T (p.Gln3561His) single nucleotide variant not provided [RCV002630713] Chr7:99005278 [GRCh38]
Chr7:98602901 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10008C>G (p.Val3336=) single nucleotide variant not provided [RCV002627394] Chr7:98993698 [GRCh38]
Chr7:98591321 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8299A>T (p.Met2767Leu) single nucleotide variant not provided [RCV002599209] Chr7:98976990 [GRCh38]
Chr7:98574613 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.660T>G (p.Leu220=) single nucleotide variant TRRAP-related disorder [RCV004548324]|not provided [RCV002578262] Chr7:98899448 [GRCh38]
Chr7:98497071 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4233+12T>C single nucleotide variant not provided [RCV002576721] Chr7:98937289 [GRCh38]
Chr7:98534912 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4924C>T (p.Arg1642Cys) single nucleotide variant not provided [RCV002670813] Chr7:98949552 [GRCh38]
Chr7:98547175 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3592-6T>A single nucleotide variant TRRAP-related disorder [RCV004548412]|not provided [RCV002922419] Chr7:98931399 [GRCh38]
Chr7:98529022 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.9597G>C (p.Leu3199=) single nucleotide variant not provided [RCV002598246] Chr7:98990460 [GRCh38]
Chr7:98588083 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7657C>T (p.Pro2553Ser) single nucleotide variant Inborn genetic diseases [RCV002934454] Chr7:98970256 [GRCh38]
Chr7:98567879 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6232-12G>T single nucleotide variant not provided [RCV002601292] Chr7:98957969 [GRCh38]
Chr7:98555592 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2658C>T (p.Ser886=) single nucleotide variant not provided [RCV002966305] Chr7:98921788 [GRCh38]
Chr7:98519411 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6976+9C>T single nucleotide variant not provided [RCV003089463] Chr7:98964784 [GRCh38]
Chr7:98562407 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7815T>C (p.Phe2605=) single nucleotide variant not provided [RCV002631222] Chr7:98971921 [GRCh38]
Chr7:98569544 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7525G>A (p.Val2509Met) single nucleotide variant not provided [RCV002629411] Chr7:98970124 [GRCh38]
Chr7:98567747 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8441G>A (p.Ser2814Asn) single nucleotide variant Inborn genetic diseases [RCV003269175]|not provided [RCV002579766] Chr7:98978266 [GRCh38]
Chr7:98575889 [GRCh37]
Chr7:7q22.1
benign|likely benign|uncertain significance
NM_001375524.1(TRRAP):c.5153T>C (p.Ile1718Thr) single nucleotide variant not provided [RCV002938699] Chr7:98950081 [GRCh38]
Chr7:98547704 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4059G>T (p.Leu1353=) single nucleotide variant not provided [RCV002602014] Chr7:98935623 [GRCh38]
Chr7:98533246 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5463+16G>C single nucleotide variant not provided [RCV003008515] Chr7:98951020 [GRCh38]
Chr7:98548643 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8634+15G>A single nucleotide variant not provided [RCV002598461] Chr7:98978919 [GRCh38]
Chr7:98576542 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5685G>A (p.Ala1895=) single nucleotide variant not provided [RCV002599368] Chr7:98953388 [GRCh38]
Chr7:98551011 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1330G>A (p.Val444Ile) single nucleotide variant not provided [RCV002649642] Chr7:98908942 [GRCh38]
Chr7:98506565 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5298C>A (p.Phe1766Leu) single nucleotide variant not provided [RCV002632182] Chr7:98950226 [GRCh38]
Chr7:98547849 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.177T>C (p.Ser59=) single nucleotide variant not provided [RCV003009431] Chr7:98890361 [GRCh38]
Chr7:98487984 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.101-4A>G single nucleotide variant not provided [RCV002856240] Chr7:98881971 [GRCh38]
Chr7:98479594 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1503C>T (p.Ala501=) single nucleotide variant not provided [RCV002962028] Chr7:98910208 [GRCh38]
Chr7:98507831 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3652G>A (p.Ala1218Thr) single nucleotide variant not provided [RCV002602046] Chr7:98931465 [GRCh38]
Chr7:98529088 [GRCh37]
Chr7:7q22.1
benign|uncertain significance
NM_001375524.1(TRRAP):c.6673C>T (p.Arg2225Cys) single nucleotide variant Inborn genetic diseases [RCV002897814] Chr7:98961444 [GRCh38]
Chr7:98559067 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7290T>C (p.Tyr2430=) single nucleotide variant not provided [RCV003011308] Chr7:98967154 [GRCh38]
Chr7:98564777 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2601G>C (p.Pro867=) single nucleotide variant not provided [RCV002649991] Chr7:98917658 [GRCh38]
Chr7:98515281 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9107C>T (p.Ala3036Val) single nucleotide variant not provided [RCV002650221] Chr7:98984177 [GRCh38]
Chr7:98581800 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6976+18G>A single nucleotide variant not provided [RCV002581291] Chr7:98964793 [GRCh38]
Chr7:98562416 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5189G>A (p.Gly1730Asp) single nucleotide variant not provided [RCV003026511] Chr7:98950117 [GRCh38]
Chr7:98547740 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4233+15G>A single nucleotide variant not provided [RCV002577174] Chr7:98937292 [GRCh38]
Chr7:98534915 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.1036+12C>T single nucleotide variant not provided [RCV003010397] Chr7:98903529 [GRCh38]
Chr7:98501152 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4087G>T (p.Val1363Leu) single nucleotide variant not provided [RCV002579000] Chr7:98935651 [GRCh38]
Chr7:98533274 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7311C>T (p.Leu2437=) single nucleotide variant not provided [RCV002937511] Chr7:98967497 [GRCh38]
Chr7:98565120 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8916C>T (p.His2972=) single nucleotide variant not provided [RCV002579007] Chr7:98983353 [GRCh38]
Chr7:98580976 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10650C>T (p.Leu3550=) single nucleotide variant not provided [RCV003030553] Chr7:99005245 [GRCh38]
Chr7:98602868 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4086C>T (p.Leu1362=) single nucleotide variant not provided [RCV003009069] Chr7:98935650 [GRCh38]
Chr7:98533273 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10512G>A (p.Thr3504=) single nucleotide variant not provided [RCV002938368] Chr7:99004392 [GRCh38]
Chr7:98602015 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.1155T>C (p.His385=) single nucleotide variant not provided [RCV003028522] Chr7:98908767 [GRCh38]
Chr7:98506390 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10619A>G (p.Tyr3540Cys) single nucleotide variant not provided [RCV002834072] Chr7:99005214 [GRCh38]
Chr7:98602837 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2670G>A (p.Val890=) single nucleotide variant not provided [RCV003048104] Chr7:98921800 [GRCh38]
Chr7:98519423 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8370C>T (p.His2790=) single nucleotide variant not provided [RCV002630655] Chr7:98977061 [GRCh38]
Chr7:98574684 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6792C>T (p.Tyr2264=) single nucleotide variant not provided [RCV002811247] Chr7:98962390 [GRCh38]
Chr7:98560013 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10905G>A (p.Thr3635=) single nucleotide variant not provided [RCV002598981] Chr7:99008528 [GRCh38]
Chr7:98606151 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10535+15C>G single nucleotide variant not provided [RCV002600590] Chr7:99004430 [GRCh38]
Chr7:98602053 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2976-9G>A single nucleotide variant not provided [RCV002580982] Chr7:98927158 [GRCh38]
Chr7:98524781 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2200-5C>T single nucleotide variant Inborn genetic diseases [RCV002588290]|not provided [RCV002602211] Chr7:98915718 [GRCh38]
Chr7:98513341 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.367-19A>T single nucleotide variant not provided [RCV002650052] Chr7:98893779 [GRCh38]
Chr7:98491402 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4788+16A>G single nucleotide variant not provided [RCV002577800] Chr7:98948701 [GRCh38]
Chr7:98546324 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5248A>T (p.Asn1750Tyr) single nucleotide variant not provided [RCV002715637] Chr7:98950176 [GRCh38]
Chr7:98547799 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9993C>T (p.Ser3331=) single nucleotide variant not provided [RCV002966776] Chr7:98993683 [GRCh38]
Chr7:98591306 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1466C>G (p.Thr489Ser) single nucleotide variant not provided [RCV002988444] Chr7:98910171 [GRCh38]
Chr7:98507794 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7544C>A (p.Pro2515His) single nucleotide variant not provided [RCV003028743] Chr7:98970143 [GRCh38]
Chr7:98567766 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4149G>A (p.Arg1383=) single nucleotide variant not provided [RCV003063098] Chr7:98937193 [GRCh38]
Chr7:98534816 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9130G>A (p.Ala3044Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003235751]|Inborn genetic diseases [RCV004068220]|not provided [RCV002966802] Chr7:98984200 [GRCh38]
Chr7:98581823 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.5344C>A (p.His1782Asn) single nucleotide variant not provided [RCV002630431] Chr7:98950885 [GRCh38]
Chr7:98548508 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.911A>G (p.Lys304Arg) single nucleotide variant not provided [RCV003027454] Chr7:98903392 [GRCh38]
Chr7:98501015 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7513-14C>T single nucleotide variant not provided [RCV002670820] Chr7:98970098 [GRCh38]
Chr7:98567721 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6922G>A (p.Val2308Ile) single nucleotide variant Inborn genetic diseases [RCV002922534]|not provided [RCV002922533] Chr7:98964721 [GRCh38]
Chr7:98562344 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.4685G>A (p.Arg1562Gln) single nucleotide variant TRRAP-related disorder [RCV004550322]|not provided [RCV002962451] Chr7:98948582 [GRCh38]
Chr7:98546205 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.101-8G>A single nucleotide variant not provided [RCV002632651] Chr7:98881967 [GRCh38]
Chr7:98479590 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7859C>G (p.Ala2620Gly) single nucleotide variant TRRAP-related disorder [RCV004548386]|not provided [RCV002895666] Chr7:98976168 [GRCh38]
Chr7:98573791 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3873C>T (p.Pro1291=) single nucleotide variant not provided [RCV002966539] Chr7:98933261 [GRCh38]
Chr7:98530884 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.895C>G (p.Gln299Glu) single nucleotide variant not provided [RCV003048921] Chr7:98900718 [GRCh38]
Chr7:98498341 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3175+18G>A single nucleotide variant not provided [RCV002810286] Chr7:98927384 [GRCh38]
Chr7:98525007 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11048G>A (p.Arg3683Gln) single nucleotide variant not provided [RCV002649455] Chr7:99011161 [GRCh38]
Chr7:98608784 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8248-10G>A single nucleotide variant not provided [RCV003048053] Chr7:98976929 [GRCh38]
Chr7:98574552 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1839A>C (p.Thr613=) single nucleotide variant not provided [RCV002720776] Chr7:98911103 [GRCh38]
Chr7:98508726 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.262-6T>C single nucleotide variant not provided [RCV002602416] Chr7:98892418 [GRCh38]
Chr7:98490041 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1227G>C (p.Glu409Asp) single nucleotide variant not provided [RCV003086124] Chr7:98908839 [GRCh38]
Chr7:98506462 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.606G>A (p.Pro202=) single nucleotide variant not provided [RCV003087958] Chr7:98897839 [GRCh38]
Chr7:98495462 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11119C>T (p.Pro3707Ser) single nucleotide variant not provided [RCV002726049] Chr7:99011232 [GRCh38]
Chr7:98608855 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5136-22TCT[2] microsatellite not provided [RCV002582649] Chr7:98950042..98950044 [GRCh38]
Chr7:98547665..98547667 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5541G>A (p.Val1847=) single nucleotide variant not provided [RCV002582827] Chr7:98953244 [GRCh38]
Chr7:98550867 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10641C>T (p.Asp3547=) single nucleotide variant not provided [RCV002654806] Chr7:99005236 [GRCh38]
Chr7:98602859 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9847+19C>T single nucleotide variant not provided [RCV002584451] Chr7:98992246 [GRCh38]
Chr7:98589869 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4161C>T (p.Ile1387=) single nucleotide variant TRRAP-related disorder [RCV004550393]|not provided [RCV003092253] Chr7:98937205 [GRCh38]
Chr7:98534828 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.7286A>G (p.Asn2429Ser) single nucleotide variant not provided [RCV002605492] Chr7:98967150 [GRCh38]
Chr7:98564773 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4549-5A>G single nucleotide variant not provided [RCV002658038] Chr7:98948216 [GRCh38]
Chr7:98545839 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10760G>A (p.Arg3587Gln) single nucleotide variant not provided [RCV002942928] Chr7:99008383 [GRCh38]
Chr7:98606006 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7454C>T (p.Thr2485Ile) single nucleotide variant Inborn genetic diseases [RCV003269432]|not provided [RCV003069868] Chr7:98967640 [GRCh38]
Chr7:98565263 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.10324G>A (p.Val3442Ile) single nucleotide variant not provided [RCV003068419] Chr7:99004204 [GRCh38]
Chr7:98601827 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.8119C>T (p.His2707Tyr) single nucleotide variant Inborn genetic diseases [RCV002723819] Chr7:98976642 [GRCh38]
Chr7:98574265 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11064C>T (p.Ile3688=) single nucleotide variant not provided [RCV002634926] Chr7:99011177 [GRCh38]
Chr7:98608800 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11042C>T (p.Thr3681Met) single nucleotide variant Inborn genetic diseases [RCV002724821]|TRRAP-related disorder [RCV004553976]|not provided [RCV003738352] Chr7:99011155 [GRCh38]
Chr7:98608778 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7839+12G>T single nucleotide variant not provided [RCV003050276] Chr7:98971957 [GRCh38]
Chr7:98569580 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6660C>T (p.His2220=) single nucleotide variant not provided [RCV002944076] Chr7:98961431 [GRCh38]
Chr7:98559054 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2623-19A>G single nucleotide variant not provided [RCV002583660] Chr7:98921734 [GRCh38]
Chr7:98519357 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11370C>T (p.Asp3790=) single nucleotide variant not provided [RCV003068604] Chr7:99012103 [GRCh38]
Chr7:98609726 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.766A>G (p.Asn256Asp) single nucleotide variant Inborn genetic diseases [RCV002944822] Chr7:98899733 [GRCh38]
Chr7:98497356 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2776G>A (p.Val926Met) single nucleotide variant not provided [RCV003052501] Chr7:98921906 [GRCh38]
Chr7:98519529 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3984C>T (p.Asn1328=) single nucleotide variant not provided [RCV002635582] Chr7:98933372 [GRCh38]
Chr7:98530995 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10836G>T (p.Lys3612Asn) single nucleotide variant not provided [RCV002634888] Chr7:99008459 [GRCh38]
Chr7:98606082 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1319A>G (p.Asn440Ser) single nucleotide variant not provided [RCV002725685] Chr7:98908931 [GRCh38]
Chr7:98506554 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10209G>C (p.Ser3403=) single nucleotide variant not provided [RCV002605683] Chr7:98994748 [GRCh38]
Chr7:98592371 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2889G>A (p.Ala963=) single nucleotide variant not provided [RCV002584658] Chr7:98925177 [GRCh38]
Chr7:98522800 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9595C>T (p.Leu3199=) single nucleotide variant not provided [RCV002725528] Chr7:98990458 [GRCh38]
Chr7:98588081 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.966A>G (p.Ala322=) single nucleotide variant not provided [RCV002653864] Chr7:98903447 [GRCh38]
Chr7:98501070 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3393+15A>G single nucleotide variant not provided [RCV002676940] Chr7:98930221 [GRCh38]
Chr7:98527844 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2622+4G>C single nucleotide variant not provided [RCV003052223] Chr7:98917683 [GRCh38]
Chr7:98515306 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2856C>T (p.Ser952=) single nucleotide variant not provided [RCV003067479] Chr7:98925144 [GRCh38]
Chr7:98522767 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6816C>G (p.Pro2272=) single nucleotide variant not provided [RCV002583460] Chr7:98962414 [GRCh38]
Chr7:98560037 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11303C>T (p.Ala3768Val) single nucleotide variant not provided [RCV003052269] Chr7:99011501 [GRCh38]
Chr7:98609124 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1581C>T (p.Phe527=) single nucleotide variant not provided [RCV002585694] Chr7:98910286 [GRCh38]
Chr7:98507909 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6419C>T (p.Ala2140Val) single nucleotide variant not provided [RCV002606389] Chr7:98959420 [GRCh38]
Chr7:98557043 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.3852+16C>A single nucleotide variant not provided [RCV002586595] Chr7:98931681 [GRCh38]
Chr7:98529304 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10557T>A (p.Ile3519=) single nucleotide variant not provided [RCV002588774] Chr7:99005152 [GRCh38]
Chr7:98602775 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8072C>T (p.Pro2691Leu) single nucleotide variant not provided [RCV003050321] Chr7:98976595 [GRCh38]
Chr7:98574218 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2544G>A (p.Thr848=) single nucleotide variant not provided [RCV002943532] Chr7:98917601 [GRCh38]
Chr7:98515224 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2623-13C>T single nucleotide variant not provided [RCV002635958] Chr7:98921740 [GRCh38]
Chr7:98519363 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4196G>T (p.Ser1399Ile) single nucleotide variant not provided [RCV002676970] Chr7:98937240 [GRCh38]
Chr7:98534863 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.964G>T (p.Ala322Ser) single nucleotide variant not provided [RCV002635300] Chr7:98903445 [GRCh38]
Chr7:98501068 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8031C>T (p.Ser2677=) single nucleotide variant not provided [RCV002654753] Chr7:98976554 [GRCh38]
Chr7:98574177 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2861A>G (p.Asn954Ser) single nucleotide variant not provided [RCV002609608] Chr7:98925149 [GRCh38]
Chr7:98522772 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1632A>G (p.Thr544=) single nucleotide variant not provided [RCV002603259] Chr7:98910337 [GRCh38]
Chr7:98507960 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10753+17C>T single nucleotide variant not provided [RCV002609772] Chr7:99005365 [GRCh38]
Chr7:98602988 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11332T>G (p.Phe3778Val) single nucleotide variant not provided [RCV002603410] Chr7:99011530 [GRCh38]
Chr7:98609153 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9393C>T (p.Ser3131=) single nucleotide variant not provided [RCV002657763] Chr7:98988768 [GRCh38]
Chr7:98586391 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4212C>T (p.Ala1404=) single nucleotide variant not provided [RCV002606796] Chr7:98937256 [GRCh38]
Chr7:98534879 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1218C>T (p.Ile406=) single nucleotide variant not provided [RCV003092768] Chr7:98908830 [GRCh38]
Chr7:98506453 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11374A>G (p.Ile3792Val) single nucleotide variant Inborn genetic diseases [RCV003093416]|not provided [RCV003069517] Chr7:99012107 [GRCh38]
Chr7:98609730 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7962A>G (p.Ala2654=) single nucleotide variant TRRAP-related disorder [RCV004548322]|not provided [RCV002587127] Chr7:98976485 [GRCh38]
Chr7:98574108 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6561C>T (p.Val2187=) single nucleotide variant not provided [RCV002654327] Chr7:98961332 [GRCh38]
Chr7:98558955 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10387G>A (p.Glu3463Lys) single nucleotide variant Inborn genetic diseases [RCV002723108] Chr7:99004267 [GRCh38]
Chr7:98601890 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6650G>A (p.Arg2217Gln) single nucleotide variant not provided [RCV002654378] Chr7:98961421 [GRCh38]
Chr7:98559044 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4860C>T (p.Thr1620=) single nucleotide variant not provided [RCV002607955] Chr7:98949488 [GRCh38]
Chr7:98547111 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3909C>T (p.Asn1303=) single nucleotide variant not provided [RCV002608875] Chr7:98933297 [GRCh38]
Chr7:98530920 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10119C>T (p.Ser3373=) single nucleotide variant not provided [RCV002606167] Chr7:98994658 [GRCh38]
Chr7:98592281 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8733C>T (p.Ile2911=) single nucleotide variant not provided [RCV003071097] Chr7:98981867 [GRCh38]
Chr7:98579490 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2436C>T (p.Thr812=) single nucleotide variant not provided [RCV003069976] Chr7:98917493 [GRCh38]
Chr7:98515116 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7298+18T>C single nucleotide variant not provided [RCV002814270] Chr7:98967180 [GRCh38]
Chr7:98564803 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3669C>T (p.Asp1223=) single nucleotide variant not provided [RCV002608952] Chr7:98931482 [GRCh38]
Chr7:98529105 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5574C>T (p.Asn1858=) single nucleotide variant not provided [RCV002609020] Chr7:98953277 [GRCh38]
Chr7:98550900 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1179C>T (p.Ser393=) single nucleotide variant not provided [RCV002613068] Chr7:98908791 [GRCh38]
Chr7:98506414 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1211A>G (p.Lys404Arg) single nucleotide variant not provided [RCV003049891] Chr7:98908823 [GRCh38]
Chr7:98506446 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5136-20T>G single nucleotide variant not provided [RCV002586680] Chr7:98950044 [GRCh38]
Chr7:98547667 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.184C>T (p.Leu62=) single nucleotide variant not provided [RCV002611062] Chr7:98890368 [GRCh38]
Chr7:98487991 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.605C>T (p.Pro202Leu) single nucleotide variant not provided [RCV002653177] Chr7:98897838 [GRCh38]
Chr7:98495461 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1562C>T (p.Pro521Leu) single nucleotide variant not provided [RCV003071660] Chr7:98910267 [GRCh38]
Chr7:98507890 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1722G>C (p.Gln574His) single nucleotide variant not provided [RCV002611177] Chr7:98910517 [GRCh38]
Chr7:98508140 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11484C>T (p.Ala3828=) single nucleotide variant not provided [RCV002633842] Chr7:99012217 [GRCh38]
Chr7:98609840 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5571C>T (p.Asn1857=) single nucleotide variant not provided [RCV003068010] Chr7:98953274 [GRCh38]
Chr7:98550897 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.9050C>G (p.Ser3017Cys) single nucleotide variant not provided [RCV003071866] Chr7:98984120 [GRCh38]
Chr7:98581743 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7132G>A (p.Val2378Met) single nucleotide variant not provided [RCV002582887] Chr7:98965851 [GRCh38]
Chr7:98563474 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3244A>G (p.Asn1082Asp) single nucleotide variant not provided [RCV002589054] Chr7:98930057 [GRCh38]
Chr7:98527680 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6261A>G (p.Gly2087=) single nucleotide variant not provided [RCV002589058] Chr7:98958010 [GRCh38]
Chr7:98555633 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3939G>A (p.Thr1313=) single nucleotide variant not provided [RCV002611524] Chr7:98933327 [GRCh38]
Chr7:98530950 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6596C>T (p.Pro2199Leu) single nucleotide variant not provided [RCV002635118] Chr7:98961367 [GRCh38]
Chr7:98558990 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6140A>G (p.Asn2047Ser) single nucleotide variant Inborn genetic diseases [RCV004072037]|not provided [RCV002654745] Chr7:98956442 [GRCh38]
Chr7:98554065 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3921C>T (p.Gly1307=) single nucleotide variant not provided [RCV002635449] Chr7:98933309 [GRCh38]
Chr7:98530932 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7420A>G (p.Lys2474Glu) single nucleotide variant Inborn genetic diseases [RCV002678843] Chr7:98967606 [GRCh38]
Chr7:98565229 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2365+15T>G single nucleotide variant not provided [RCV002585829] Chr7:98915903 [GRCh38]
Chr7:98513526 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6330C>T (p.Arg2110=) single nucleotide variant not provided [RCV002612097] Chr7:98958079 [GRCh38]
Chr7:98555702 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1329C>T (p.Asp443=) single nucleotide variant not provided [RCV002612124] Chr7:98908941 [GRCh38]
Chr7:98506564 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2365+19G>T single nucleotide variant not provided [RCV002608470] Chr7:98915907 [GRCh38]
Chr7:98513530 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.151-5A>C single nucleotide variant not provided [RCV002587896] Chr7:98890330 [GRCh38]
Chr7:98487953 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6353A>G (p.Asn2118Ser) single nucleotide variant not provided [RCV002676756] Chr7:98959354 [GRCh38]
Chr7:98556977 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3261G>T (p.Met1087Ile) single nucleotide variant not provided [RCV002582294] Chr7:98930074 [GRCh38]
Chr7:98527697 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5526C>T (p.Tyr1842=) single nucleotide variant not provided [RCV002633269] Chr7:98953229 [GRCh38]
Chr7:98550852 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.540C>A (p.Pro180=) single nucleotide variant TRRAP-related disorder [RCV004550439]|not provided [RCV002612467] Chr7:98897773 [GRCh38]
Chr7:98495396 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5895G>A (p.Pro1965=) single nucleotide variant not provided [RCV002582315] Chr7:98955262 [GRCh38]
Chr7:98552885 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7500G>A (p.Lys2500=) single nucleotide variant not provided [RCV002610586] Chr7:98967686 [GRCh38]
Chr7:98565309 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4014+19G>A single nucleotide variant not provided [RCV002583480] Chr7:98933421 [GRCh38]
Chr7:98531044 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10173G>A (p.Thr3391=) single nucleotide variant not provided [RCV002610765] Chr7:98994712 [GRCh38]
Chr7:98592335 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1530G>A (p.Pro510=) single nucleotide variant not provided [RCV002612725] Chr7:98910235 [GRCh38]
Chr7:98507858 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8651C>T (p.Pro2884Leu) single nucleotide variant not provided [RCV003154549] Chr7:98981785 [GRCh38]
Chr7:98579408 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3604G>T (p.Ala1202Ser) single nucleotide variant not provided [RCV003154420] Chr7:98931417 [GRCh38]
Chr7:98529040 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9461T>C (p.Met3154Thr) single nucleotide variant Inborn genetic diseases [RCV003203806] Chr7:98988836 [GRCh38]
Chr7:98586459 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7143G>A (p.Trp2381Ter) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003222548] Chr7:98965862 [GRCh38]
Chr7:98563485 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2641C>T (p.Arg881Cys) single nucleotide variant Inborn genetic diseases [RCV003191023] Chr7:98921771 [GRCh38]
Chr7:98519394 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.724A>G (p.Asn242Asp) single nucleotide variant not provided [RCV003221723] Chr7:98899691 [GRCh38]
Chr7:98497314 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11087C>T (p.Ala3696Val) single nucleotide variant Inborn genetic diseases [RCV003181189] Chr7:99011200 [GRCh38]
Chr7:98608823 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7319G>C (p.Ser2440Thr) single nucleotide variant Inborn genetic diseases [RCV003216805] Chr7:98967505 [GRCh38]
Chr7:98565128 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003223542] Chr7:98955183 [GRCh38]
Chr7:98552806 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.5023C>T (p.Arg1675Ter) single nucleotide variant not provided [RCV003219080] Chr7:98949729 [GRCh38]
Chr7:98547352 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11423C>T (p.Ser3808Leu) single nucleotide variant Inborn genetic diseases [RCV003190270] Chr7:99012156 [GRCh38]
Chr7:98609779 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9277G>A (p.Glu3093Lys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003228777] Chr7:98984347 [GRCh38]
Chr7:98581970 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5166C>A (p.Phe1722Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003142427] Chr7:98950094 [GRCh38]
Chr7:98547717 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9265A>C (p.Met3089Leu) single nucleotide variant not provided [RCV003228557] Chr7:98984335 [GRCh38]
Chr7:98581958 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5882G>A (p.Gly1961Glu) single nucleotide variant not provided [RCV003221721] Chr7:98955249 [GRCh38]
Chr7:98552872 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9038A>G (p.Tyr3013Cys) single nucleotide variant not provided [RCV003223261] Chr7:98984108 [GRCh38]
Chr7:98581731 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3886C>T (p.Leu1296=) single nucleotide variant GRACILE syndrome [RCV003142466] Chr7:98933274 [GRCh38]
Chr7:98530897 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1553C>A (p.Pro518His) single nucleotide variant Inborn genetic diseases [RCV003239319]|not provided [RCV003142853] Chr7:98910258 [GRCh38]
Chr7:98507881 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2659A>G (p.Ile887Val) single nucleotide variant not provided [RCV003142854] Chr7:98921789 [GRCh38]
Chr7:98519412 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10993C>T (p.Leu3665Phe) single nucleotide variant not provided [RCV003142855] Chr7:99011106 [GRCh38]
Chr7:98608729 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3430C>T (p.Arg1144Cys) single nucleotide variant not provided [RCV003142856] Chr7:98930669 [GRCh38]
Chr7:98528292 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1133C>T (p.Thr378Met) single nucleotide variant not provided [RCV003142857] Chr7:98908745 [GRCh38]
Chr7:98506368 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.8407G>A (p.Ala2803Thr) single nucleotide variant not provided [RCV003142858] Chr7:98978232 [GRCh38]
Chr7:98575855 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.366+2dup duplication not provided [RCV003142859] Chr7:98892529..98892530 [GRCh38]
Chr7:98490152..98490153 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9128T>C (p.Ile3043Thr) single nucleotide variant not provided [RCV003142860] Chr7:98984198 [GRCh38]
Chr7:98581821 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1026G>C (p.Glu342Asp) single nucleotide variant not provided [RCV003142861] Chr7:98903507 [GRCh38]
Chr7:98501130 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1619C>G (p.Thr540Arg) single nucleotide variant not provided [RCV003142862] Chr7:98910324 [GRCh38]
Chr7:98507947 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1722G>T (p.Gln574His) single nucleotide variant not provided [RCV003142863] Chr7:98910517 [GRCh38]
Chr7:98508140 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4884G>C (p.Gln1628His) single nucleotide variant not provided [RCV003142864] Chr7:98949512 [GRCh38]
Chr7:98547135 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2858_2860dup (p.Ala953_Asn954insThr) duplication not provided [RCV003142865] Chr7:98925145..98925146 [GRCh38]
Chr7:98522768..98522769 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.979C>T (p.Leu327Phe) single nucleotide variant not provided [RCV003142866] Chr7:98903460 [GRCh38]
Chr7:98501083 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4711C>T (p.Arg1571Ter) single nucleotide variant not provided [RCV003142867] Chr7:98948608 [GRCh38]
Chr7:98546231 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4130A>G (p.Asn1377Ser) single nucleotide variant not provided [RCV003142868] Chr7:98937174 [GRCh38]
Chr7:98534797 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6829G>A (p.Gly2277Arg) single nucleotide variant not provided [RCV003142869] Chr7:98962427 [GRCh38]
Chr7:98560050 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6806A>G (p.Asn2269Ser) single nucleotide variant not provided [RCV003142870] Chr7:98962404 [GRCh38]
Chr7:98560027 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.610C>A (p.Arg204Ser) single nucleotide variant not provided [RCV003142871] Chr7:98897843 [GRCh38]
Chr7:98495466 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6485C>T (p.Thr2162Ile) single nucleotide variant not provided [RCV003142872] Chr7:98959486 [GRCh38]
Chr7:98557109 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11402A>G (p.Glu3801Gly) single nucleotide variant not provided [RCV003142873] Chr7:99012135 [GRCh38]
Chr7:98609758 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6189G>C (p.Gln2063His) single nucleotide variant not provided [RCV003142874] Chr7:98956491 [GRCh38]
Chr7:98554114 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2143A>G (p.Lys715Glu) single nucleotide variant not provided [RCV003142875] Chr7:98912157 [GRCh38]
Chr7:98509780 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5807C>T (p.Pro1936Leu) single nucleotide variant not provided [RCV003142876] Chr7:98955174 [GRCh38]
Chr7:98552797 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1844T>C (p.Ile615Thr) single nucleotide variant not provided [RCV003142877] Chr7:98911108 [GRCh38]
Chr7:98508731 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6083T>A (p.Ile2028Asn) single nucleotide variant not provided [RCV003142878] Chr7:98956291 [GRCh38]
Chr7:98553914 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7151A>G (p.Asn2384Ser) single nucleotide variant not provided [RCV003142879] Chr7:98965870 [GRCh38]
Chr7:98563493 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr) single nucleotide variant not provided [RCV003142880] Chr7:98970229 [GRCh38]
Chr7:98567852 [GRCh37]
Chr7:7q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001375524.1(TRRAP):c.2622+3A>G single nucleotide variant not provided [RCV003142881] Chr7:98917682 [GRCh38]
Chr7:98515305 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8167G>A (p.Glu2723Lys) single nucleotide variant not provided [RCV003142882] Chr7:98976690 [GRCh38]
Chr7:98574313 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8183T>C (p.Leu2728Pro) single nucleotide variant not provided [RCV003142883] Chr7:98976706 [GRCh38]
Chr7:98574329 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8770C>T (p.Arg2924Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV004555908]|Teratoma [RCV003221372] Chr7:98981904 [GRCh38]
Chr7:98579527 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1562_1563insT (p.Ala522fs) insertion Developmental delay with or without dysmorphic facies and autism [RCV003226101] Chr7:98910267..98910268 [GRCh38]
Chr7:98507890..98507891 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5039G>T (p.Ser1680Ile) single nucleotide variant not provided [RCV003227290] Chr7:98949745 [GRCh38]
Chr7:98547368 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2573_2577del (p.Pro858fs) deletion Hearing loss, autosomal dominant 75 [RCV003321460] Chr7:98917629..98917633 [GRCh38]
Chr7:98515252..98515256 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.142A>T (p.Asn48Tyr) single nucleotide variant not provided [RCV003318832] Chr7:98882016 [GRCh38]
Chr7:98479639 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8248-1G>T single nucleotide variant not provided [RCV003325086] Chr7:98976938 [GRCh38]
Chr7:98574561 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10765G>A (p.Val3589Met) single nucleotide variant not provided [RCV003319136] Chr7:99008388 [GRCh38]
Chr7:98606011 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3081_3087delinsTAAGGC (p.Met1027fs) indel not provided [RCV003318881] Chr7:98927272..98927278 [GRCh38]
Chr7:98524895..98524901 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3015T>G (p.His1005Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003322711] Chr7:98927206 [GRCh38]
Chr7:98524829 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3702G>C (p.Gln1234His) single nucleotide variant not provided [RCV003328064] Chr7:98931515 [GRCh38]
Chr7:98529138 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2888C>T (p.Ala963Val) single nucleotide variant not provided [RCV003319873] Chr7:98925176 [GRCh38]
Chr7:98522799 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2123A>G (p.Asn708Ser) single nucleotide variant not provided [RCV003328917] Chr7:98912137 [GRCh38]
Chr7:98509760 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5005T>A (p.Ser1669Thr) single nucleotide variant not provided [RCV003328782] Chr7:98949711 [GRCh38]
Chr7:98547334 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7969G>T (p.Gly2657Cys) single nucleotide variant not provided [RCV003328836] Chr7:98976492 [GRCh38]
Chr7:98574115 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1814T>C (p.Val605Ala) single nucleotide variant not provided [RCV003329056] Chr7:98911078 [GRCh38]
Chr7:98508701 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8332T>A (p.Tyr2778Asn) single nucleotide variant not provided [RCV003327187] Chr7:98977023 [GRCh38]
Chr7:98574646 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6871A>C (p.Ser2291Arg) single nucleotide variant not provided [RCV003327186] Chr7:98964670 [GRCh38]
Chr7:98562293 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1935A>C (p.Leu645Phe) single nucleotide variant not provided [RCV003329718] Chr7:98911199 [GRCh38]
Chr7:98508822 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7421A>C (p.Lys2474Thr) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003326306] Chr7:98967607 [GRCh38]
Chr7:98565230 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV003327701] Chr7:98454022..100723798 [GRCh38]
Chr7:7q22.1
pathogenic
NM_001375524.1(TRRAP):c.7562A>G (p.Gln2521Arg) single nucleotide variant not provided [RCV003423653] Chr7:98970161 [GRCh38]
Chr7:98567784 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6199C>T (p.Arg2067Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003340844]|TRRAP-related disorder [RCV004548609] Chr7:98956501 [GRCh38]
Chr7:98554124 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10671G>C (p.Glu3557Asp) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003338108] Chr7:99005266 [GRCh38]
Chr7:98602889 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6269C>T (p.Ser2090Phe) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003337904] Chr7:98958018 [GRCh38]
Chr7:98555641 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9807C>T (p.Tyr3269=) single nucleotide variant not provided [RCV003387630] Chr7:98992187 [GRCh38]
Chr7:98589810 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6727T>C (p.Tyr2243His) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003333844] Chr7:98962325 [GRCh38]
Chr7:98559948 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10070G>A (p.Gly3357Asp) single nucleotide variant not provided [RCV003387642] Chr7:98994609 [GRCh38]
Chr7:98592232 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2038A>G (p.Thr680Ala) single nucleotide variant Inborn genetic diseases [RCV003381105] Chr7:98912052 [GRCh38]
Chr7:98509675 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.200C>T (p.Pro67Leu) single nucleotide variant not provided [RCV003332749] Chr7:98890384 [GRCh38]
Chr7:98488007 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11308G>A (p.Ala3770Thr) single nucleotide variant Inborn genetic diseases [RCV003366895] Chr7:99011506 [GRCh38]
Chr7:98609129 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.38A>C (p.Asp13Ala) single nucleotide variant TRRAP-related disorder [RCV004554156] Chr7:98881188 [GRCh38]
Chr7:98478811 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11291C>T (p.Ala3764Val) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003333416]|Hearing loss, autosomal dominant 75 [RCV003333417] Chr7:99011489 [GRCh38]
Chr7:98609112 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.346G>A (p.Val116Met) single nucleotide variant Inborn genetic diseases [RCV003370163] Chr7:98892508 [GRCh38]
Chr7:98490131 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8446G>A (p.Ala2816Thr) single nucleotide variant Inborn genetic diseases [RCV003383161] Chr7:98978271 [GRCh38]
Chr7:98575894 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5639C>T (p.Ala1880Val) single nucleotide variant Inborn genetic diseases [RCV003351607]|not provided [RCV003661047] Chr7:98953342 [GRCh38]
Chr7:98550965 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5381A>G (p.Lys1794Arg) single nucleotide variant Inborn genetic diseases [RCV003349630] Chr7:98950922 [GRCh38]
Chr7:98548545 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5112C>A (p.Ala1704=) single nucleotide variant not provided [RCV003873061] Chr7:98949818 [GRCh38]
Chr7:98547441 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7618C>T (p.Arg2540Cys) single nucleotide variant not provided [RCV003569437] Chr7:98970217 [GRCh38]
Chr7:98567840 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9534C>T (p.Cys3178=) single nucleotide variant not provided [RCV003826725] Chr7:98988909 [GRCh38]
Chr7:98586532 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2775T>C (p.Thr925=) single nucleotide variant not provided [RCV003543398] Chr7:98921905 [GRCh38]
Chr7:98519528 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8971G>A (p.Asp2991Asn) single nucleotide variant not provided [RCV003873043] Chr7:98983408 [GRCh38]
Chr7:98581031 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7331C>G (p.Ala2444Gly) single nucleotide variant not provided [RCV003570091] Chr7:98967517 [GRCh38]
Chr7:98565140 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1335G>A (p.Leu445=) single nucleotide variant not provided [RCV003570152] Chr7:98908947 [GRCh38]
Chr7:98506570 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8033C>T (p.Ala2678Val) single nucleotide variant not provided [RCV003569732] Chr7:98976556 [GRCh38]
Chr7:98574179 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6294G>A (p.Lys2098=) single nucleotide variant not provided [RCV003543735] Chr7:98958043 [GRCh38]
Chr7:98555666 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.10576G>A (p.Ala3526Thr) single nucleotide variant not provided [RCV003873621] Chr7:99005171 [GRCh38]
Chr7:98602794 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7889C>T (p.Thr2630Met) single nucleotide variant not provided [RCV003873628] Chr7:98976198 [GRCh38]
Chr7:98573821 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5194T>C (p.Phe1732Leu) single nucleotide variant not provided [RCV003570378] Chr7:98950122 [GRCh38]
Chr7:98547745 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2668G>A (p.Val890Met) single nucleotide variant not provided [RCV003570795] Chr7:98921798 [GRCh38]
Chr7:98519421 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1339C>T (p.Arg447Trp) single nucleotide variant not provided [RCV003875660] Chr7:98908951 [GRCh38]
Chr7:98506574 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5335-13A>T single nucleotide variant not provided [RCV003571339] Chr7:98950863 [GRCh38]
Chr7:98548486 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4293G>T (p.Leu1431=) single nucleotide variant not provided [RCV003571356] Chr7:98937709 [GRCh38]
Chr7:98535332 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5389G>C (p.Gly1797Arg) single nucleotide variant not provided [RCV003570992] Chr7:98950930 [GRCh38]
Chr7:98548553 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.975A>G (p.Ala325=) single nucleotide variant not provided [RCV003543327] Chr7:98903456 [GRCh38]
Chr7:98501079 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2955C>T (p.Tyr985=) single nucleotide variant not provided [RCV003874582] Chr7:98925243 [GRCh38]
Chr7:98522866 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9897A>G (p.Ala3299=) single nucleotide variant not provided [RCV003543034] Chr7:98993587 [GRCh38]
Chr7:98591210 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9152A>G (p.Asn3051Ser) single nucleotide variant not provided [RCV003872784] Chr7:98984222 [GRCh38]
Chr7:98581845 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.930G>A (p.Val310=) single nucleotide variant not provided [RCV003825249] Chr7:98903411 [GRCh38]
Chr7:98501034 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9130G>T (p.Ala3044Ser) single nucleotide variant not provided [RCV003491699] Chr7:98984200 [GRCh38]
Chr7:98581823 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7460C>T (p.Ser2487Leu) single nucleotide variant not provided [RCV003443419] Chr7:98967646 [GRCh38]
Chr7:98565269 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5383G>A (p.Gly1795Arg) single nucleotide variant not provided [RCV003443381] Chr7:98950924 [GRCh38]
Chr7:98548547 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8786T>A (p.Leu2929Gln) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV004577104] Chr7:98981920 [GRCh38]
Chr7:98579543 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9763C>T (p.Arg3255Cys) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV004577130] Chr7:98992143 [GRCh38]
Chr7:98589766 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6415A>T (p.Thr2139Ser) single nucleotide variant TRRAP-related disorder [RCV004554138] Chr7:98959416 [GRCh38]
Chr7:98557039 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9711C>T (p.Cys3237=) single nucleotide variant not provided [RCV003708823]|not specified [RCV003479720] Chr7:98990574 [GRCh38]
Chr7:98588197 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4809C>T (p.Asp1603=) single nucleotide variant not provided [RCV003433953] Chr7:98949437 [GRCh38]
Chr7:98547060 [GRCh37]
Chr7:7q22.1
benign|likely benign
NM_001375524.1(TRRAP):c.6420G>A (p.Ala2140=) single nucleotide variant not provided [RCV003433955] Chr7:98959421 [GRCh38]
Chr7:98557044 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9289-6G>C single nucleotide variant not provided [RCV003433960] Chr7:98984938 [GRCh38]
Chr7:98582561 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9768_9769dup (p.Tyr3257fs) microsatellite not provided [RCV003433962] Chr7:98992145..98992146 [GRCh38]
Chr7:98589768..98589769 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.203G>A (p.Arg68Gln) single nucleotide variant TRRAP-related disorder [RCV004550695] Chr7:98890387 [GRCh38]
Chr7:98488010 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1397C>T (p.Ala466Val) single nucleotide variant not provided [RCV003443687] Chr7:98910102 [GRCh38]
Chr7:98507725 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9847+3A>G single nucleotide variant not provided [RCV003826012] Chr7:98992230 [GRCh38]
Chr7:98589853 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5588G>A (p.Ser1863Asn) single nucleotide variant not provided [RCV003442336] Chr7:98953291 [GRCh38]
Chr7:98550914 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9214T>A (p.Phe3072Ile) single nucleotide variant TRRAP-related disorder [RCV004554107] Chr7:98984284 [GRCh38]
Chr7:98581907 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1227G>T (p.Glu409Asp) single nucleotide variant TRRAP-related disorder [RCV004550608]|not provided [RCV003778219] Chr7:98908839 [GRCh38]
Chr7:98506462 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1500A>C (p.Pro500=) single nucleotide variant TRRAP-related disorder [RCV004554215]|not provided [RCV003433951] Chr7:98910205 [GRCh38]
Chr7:98507828 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7584C>T (p.Ile2528=) single nucleotide variant not provided [RCV003433957] Chr7:98970183 [GRCh38]
Chr7:98567806 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11266A>G (p.Ile3756Val) single nucleotide variant TRRAP-related disorder [RCV004554235]|not provided [RCV003457509] Chr7:99011464 [GRCh38]
Chr7:98609087 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.7652A>T (p.Gln2551Leu) single nucleotide variant TRRAP-related disorder [RCV004554173] Chr7:98970251 [GRCh38]
Chr7:98567874 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.862T>C (p.Leu288=) single nucleotide variant TRRAP-related disorder [RCV004554214]|not provided [RCV003433950] Chr7:98900685 [GRCh38]
Chr7:98498308 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6131A>G (p.Glu2044Gly) single nucleotide variant not provided [RCV003433954] Chr7:98956433 [GRCh38]
Chr7:98554056 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8458A>G (p.Ile2820Val) single nucleotide variant not provided [RCV003433958] Chr7:98978283 [GRCh38]
Chr7:98575906 [GRCh37]
Chr7:7q22.1
likely benign|conflicting interpretations of pathogenicity
NM_001375524.1(TRRAP):c.9706A>G (p.Thr3236Ala) single nucleotide variant not provided [RCV003433961] Chr7:98990569 [GRCh38]
Chr7:98588192 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3910G>A (p.Ala1304Thr) single nucleotide variant not provided [RCV003423652] Chr7:98933298 [GRCh38]
Chr7:98530921 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1810C>T (p.Gln604Ter) single nucleotide variant not provided [RCV003443712] Chr7:98910605 [GRCh38]
Chr7:98508228 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6392G>A (p.Arg2131His) single nucleotide variant TRRAP-related disorder [RCV004548677] Chr7:98959393 [GRCh38]
Chr7:98557016 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2139G>T (p.Leu713=) single nucleotide variant not provided [RCV003433952] Chr7:98912153 [GRCh38]
Chr7:98509776 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6671C>T (p.Ser2224Leu) single nucleotide variant not provided [RCV003433956] Chr7:98961442 [GRCh38]
Chr7:98559065 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.619A>G (p.Ser207Gly) single nucleotide variant TRRAP-related disorder [RCV004548622]|not specified [RCV003388344] Chr7:98897852 [GRCh38]
Chr7:98495475 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10635G>A (p.Met3545Ile) single nucleotide variant TRRAP-related disorder [RCV004550568] Chr7:99005230 [GRCh38]
Chr7:98602853 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11491G>A (p.Ala3831Thr) single nucleotide variant Neurodevelopmental disorder [RCV003389228] Chr7:99012224 [GRCh38]
Chr7:98609847 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9108G>T (p.Ala3036=) single nucleotide variant not specified [RCV003404852] Chr7:98984178 [GRCh38]
Chr7:98581801 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6058G>A (p.Val2020Ile) single nucleotide variant TRRAP-related disorder [RCV004554140]|not provided [RCV003669416] Chr7:98956266 [GRCh38]
Chr7:98553889 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8976G>C (p.Leu2992Phe) single nucleotide variant TRRAP-related disorder [RCV004550635] Chr7:98983413 [GRCh38]
Chr7:98581036 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11282C>T (p.Pro3761Leu) single nucleotide variant TRRAP-related disorder [RCV004552483]|not provided [RCV003669410] Chr7:99011480 [GRCh38]
Chr7:98609103 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8155C>T (p.His2719Tyr) single nucleotide variant not provided [RCV003423654] Chr7:98976678 [GRCh38]
Chr7:98574301 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10254G>A (p.Ala3418=) single nucleotide variant not provided [RCV003423655] Chr7:98994793 [GRCh38]
Chr7:98592416 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11565G>A (p.Ala3855=) single nucleotide variant not provided [RCV003423656] Chr7:99012298 [GRCh38]
Chr7:98609921 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1036+1G>A single nucleotide variant TRRAP-related disorder [RCV004550785] Chr7:98903518 [GRCh38]
Chr7:98501141 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6512A>G (p.Tyr2171Cys) single nucleotide variant TRRAP-related disorder [RCV004552558] Chr7:98961283 [GRCh38]
Chr7:98558906 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8502C>T (p.Cys2834=) single nucleotide variant not provided [RCV003433959] Chr7:98978772 [GRCh38]
Chr7:98576395 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6642G>T (p.Lys2214Asn) single nucleotide variant TRRAP-related disorder [RCV004550621] Chr7:98961413 [GRCh38]
Chr7:98559036 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10431A>T (p.Glu3477Asp) single nucleotide variant TRRAP-related disorder [RCV004550612] Chr7:99004311 [GRCh38]
Chr7:98601934 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2105C>A (p.Ser702Tyr) single nucleotide variant TRRAP-related disorder [RCV004552606] Chr7:98912119 [GRCh38]
Chr7:98509742 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10876A>G (p.Ile3626Val) single nucleotide variant TRRAP-related disorder [RCV004552595] Chr7:99008499 [GRCh38]
Chr7:98606122 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3295T>A (p.Cys1099Ser) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003388886] Chr7:98930108 [GRCh38]
Chr7:98527731 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.342G>T (p.Leu114Phe) single nucleotide variant TRRAP-related disorder [RCV004552610] Chr7:98892504 [GRCh38]
Chr7:98490127 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2258C>T (p.Pro753Leu) single nucleotide variant Developmental delay with or without dysmorphic facies and autism [RCV003458986] Chr7:98915781 [GRCh38]
Chr7:98513404 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2644A>G (p.Asn882Asp) single nucleotide variant not provided [RCV003442585] Chr7:98921774 [GRCh38]
Chr7:98519397 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3609C>T (p.Val1203=) single nucleotide variant not provided [RCV003740183] Chr7:98931422 [GRCh38]
Chr7:98529045 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6653C>T (p.Ala2218Val) single nucleotide variant Inborn genetic diseases [RCV004369622]|not provided [RCV003879080] Chr7:98961424 [GRCh38]
Chr7:98559047 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.151-17T>C single nucleotide variant not provided [RCV003877592] Chr7:98890318 [GRCh38]
Chr7:98487941 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4112-6C>T single nucleotide variant not provided [RCV003828202] Chr7:98937150 [GRCh38]
Chr7:98534773 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3518T>C (p.Leu1173Pro) single nucleotide variant not provided [RCV003828270] Chr7:98930757 [GRCh38]
Chr7:98528380 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4335G>C (p.Val1445=) single nucleotide variant not provided [RCV003578099] Chr7:98937751 [GRCh38]
Chr7:98535374 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10548G>C (p.Arg3516=) single nucleotide variant not provided [RCV003831363] Chr7:99005143 [GRCh38]
Chr7:98602766 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7155C>T (p.Asn2385=) single nucleotide variant not provided [RCV003881340] Chr7:98965874 [GRCh38]
Chr7:98563497 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1257C>T (p.Ser419=) single nucleotide variant not provided [RCV003694612] Chr7:98908869 [GRCh38]
Chr7:98506492 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.315T>C (p.His105=) single nucleotide variant not provided [RCV003578409] Chr7:98892477 [GRCh38]
Chr7:98490100 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6371C>G (p.Ser2124Cys) single nucleotide variant not provided [RCV003696373] Chr7:98959372 [GRCh38]
Chr7:98556995 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4416C>A (p.Arg1472=) single nucleotide variant not provided [RCV003830443] Chr7:98942960 [GRCh38]
Chr7:98540583 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6564C>G (p.Leu2188=) single nucleotide variant not provided [RCV003830501] Chr7:98961335 [GRCh38]
Chr7:98558958 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5290G>A (p.Val1764Ile) single nucleotide variant not provided [RCV003690898] Chr7:98950218 [GRCh38]
Chr7:98547841 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6271C>T (p.Leu2091Phe) single nucleotide variant not provided [RCV003825930] Chr7:98958020 [GRCh38]
Chr7:98555643 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3378G>A (p.Leu1126=) single nucleotide variant not provided [RCV003546100] Chr7:98930191 [GRCh38]
Chr7:98527814 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4350G>A (p.Ser1450=) single nucleotide variant not provided [RCV003830729] Chr7:98937766 [GRCh38]
Chr7:98535389 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.800+9T>C single nucleotide variant not provided [RCV003576434] Chr7:98899776 [GRCh38]
Chr7:98497399 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7886C>T (p.Thr2629Met) single nucleotide variant not provided [RCV003829718] Chr7:98976195 [GRCh38]
Chr7:98573818 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7749C>T (p.Thr2583=) single nucleotide variant not provided [RCV003547683] Chr7:98971855 [GRCh38]
Chr7:98569478 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7512+13G>A single nucleotide variant not provided [RCV003831636] Chr7:98967711 [GRCh38]
Chr7:98565334 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.729C>T (p.Ile243=) single nucleotide variant not provided [RCV003715330] Chr7:98899696 [GRCh38]
Chr7:98497319 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4170C>T (p.Leu1390=) single nucleotide variant not provided [RCV003576390] Chr7:98937214 [GRCh38]
Chr7:98534837 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1813-13T>C single nucleotide variant not provided [RCV003849214] Chr7:98911064 [GRCh38]
Chr7:98508687 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.801-8T>G single nucleotide variant not provided [RCV003827730] Chr7:98900616 [GRCh38]
Chr7:98498239 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1715-11C>G single nucleotide variant not provided [RCV003579358] Chr7:98910499 [GRCh38]
Chr7:98508122 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1475C>T (p.Ala492Val) single nucleotide variant not provided [RCV003544156] Chr7:98910180 [GRCh38]
Chr7:98507803 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3627G>A (p.Thr1209=) single nucleotide variant not provided [RCV003877362] Chr7:98931440 [GRCh38]
Chr7:98529063 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7035G>T (p.Met2345Ile) single nucleotide variant not provided [RCV003688659] Chr7:98965754 [GRCh38]
Chr7:98563377 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1350+7G>T single nucleotide variant not provided [RCV003693629] Chr7:98908969 [GRCh38]
Chr7:98506592 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8196G>A (p.Pro2732=) single nucleotide variant not provided [RCV003577994] Chr7:98976719 [GRCh38]
Chr7:98574342 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8208G>A (p.Thr2736=) single nucleotide variant not provided [RCV003876177] Chr7:98976731 [GRCh38]
Chr7:98574354 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11024A>G (p.Asn3675Ser) single nucleotide variant not provided [RCV003573676] Chr7:99011137 [GRCh38]
Chr7:98608760 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5907C>T (p.His1969=) single nucleotide variant not provided [RCV003828680] Chr7:98955274 [GRCh38]
Chr7:98552897 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7821C>T (p.Asp2607=) single nucleotide variant not provided [RCV003827421] Chr7:98971927 [GRCh38]
Chr7:98569550 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8247+10C>T single nucleotide variant not provided [RCV003545678] Chr7:98976780 [GRCh38]
Chr7:98574403 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8812A>G (p.Thr2938Ala) single nucleotide variant not provided [RCV003662689] Chr7:98981946 [GRCh38]
Chr7:98579569 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.925A>T (p.Met309Leu) single nucleotide variant not provided [RCV003714537] Chr7:98903406 [GRCh38]
Chr7:98501029 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5937+8G>C single nucleotide variant not provided [RCV003694428] Chr7:98955312 [GRCh38]
Chr7:98552935 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7176+6C>G single nucleotide variant not provided [RCV003828283] Chr7:98965901 [GRCh38]
Chr7:98563524 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.32T>C (p.Val11Ala) single nucleotide variant not provided [RCV003694450] Chr7:98881182 [GRCh38]
Chr7:98478805 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4455C>T (p.Gly1485=) single nucleotide variant not provided [RCV003826919] Chr7:98942999 [GRCh38]
Chr7:98540622 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9060T>C (p.Asp3020=) single nucleotide variant not provided [RCV003830288] Chr7:98984130 [GRCh38]
Chr7:98581753 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1852G>A (p.Ala618Thr) single nucleotide variant not provided [RCV003687127] Chr7:98911116 [GRCh38]
Chr7:98508739 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1690A>G (p.Ile564Val) single nucleotide variant not provided [RCV003877955] Chr7:98910395 [GRCh38]
Chr7:98508018 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4086C>A (p.Leu1362=) single nucleotide variant not provided [RCV003715391] Chr7:98935650 [GRCh38]
Chr7:98533273 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.367-3T>C single nucleotide variant not provided [RCV003875822] Chr7:98893795 [GRCh38]
Chr7:98491418 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.401G>C (p.Arg134Thr) single nucleotide variant not provided [RCV003687174] Chr7:98893832 [GRCh38]
Chr7:98491455 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4895G>T (p.Arg1632Leu) single nucleotide variant not provided [RCV003547896] Chr7:98949523 [GRCh38]
Chr7:98547146 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9847+20G>A single nucleotide variant not provided [RCV003828998] Chr7:98992247 [GRCh38]
Chr7:98589870 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6976+15A>T single nucleotide variant not provided [RCV003544038] Chr7:98964790 [GRCh38]
Chr7:98562413 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5088C>T (p.Asn1696=) single nucleotide variant not provided [RCV003880790] Chr7:98949794 [GRCh38]
Chr7:98547417 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4233+19G>A single nucleotide variant not provided [RCV003881515] Chr7:98937296 [GRCh38]
Chr7:98534919 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4326G>C (p.Leu1442=) single nucleotide variant not provided [RCV003546043] Chr7:98937742 [GRCh38]
Chr7:98535365 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8827-10G>A single nucleotide variant not provided [RCV003577926] Chr7:98983254 [GRCh38]
Chr7:98580877 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11031G>C (p.Thr3677=) single nucleotide variant not provided [RCV003544037] Chr7:99011144 [GRCh38]
Chr7:98608767 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7110C>T (p.Ile2370=) single nucleotide variant not provided [RCV003695090] Chr7:98965829 [GRCh38]
Chr7:98563452 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1856A>G (p.Asn619Ser) single nucleotide variant not provided [RCV003827261] Chr7:98911120 [GRCh38]
Chr7:98508743 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9483C>T (p.Asn3161=) single nucleotide variant not provided [RCV003828501] Chr7:98988858 [GRCh38]
Chr7:98586481 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5135+14C>T single nucleotide variant not provided [RCV003578847] Chr7:98949855 [GRCh38]
Chr7:98547478 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7423C>T (p.Arg2475Cys) single nucleotide variant not provided [RCV003877957] Chr7:98967609 [GRCh38]
Chr7:98565232 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5111C>T (p.Ala1704Val) single nucleotide variant not provided [RCV003547375] Chr7:98949817 [GRCh38]
Chr7:98547440 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4233+5G>A single nucleotide variant not provided [RCV003828889] Chr7:98937282 [GRCh38]
Chr7:98534905 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11443A>G (p.Asn3815Asp) single nucleotide variant not provided [RCV003577896] Chr7:99012176 [GRCh38]
Chr7:98609799 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4788+7G>C single nucleotide variant not provided [RCV003830534] Chr7:98948692 [GRCh38]
Chr7:98546315 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1812+9G>A single nucleotide variant not provided [RCV003831153] Chr7:98910616 [GRCh38]
Chr7:98508239 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2771T>A (p.Ile924Asn) single nucleotide variant not provided [RCV003689354] Chr7:98921901 [GRCh38]
Chr7:98519524 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.628C>G (p.Arg210Gly) single nucleotide variant not provided [RCV003689381] Chr7:98897861 [GRCh38]
Chr7:98495484 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11053A>T (p.Met3685Leu) single nucleotide variant Inborn genetic diseases [RCV004369004]|not provided [RCV003547899] Chr7:99011166 [GRCh38]
Chr7:98608789 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.10761G>A (p.Arg3587=) single nucleotide variant not provided [RCV003694353] Chr7:99008384 [GRCh38]
Chr7:98606007 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7995C>T (p.Ser2665=) single nucleotide variant not provided [RCV003825255] Chr7:98976518 [GRCh38]
Chr7:98574141 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5890G>A (p.Val1964Ile) single nucleotide variant not provided [RCV003825316] Chr7:98955257 [GRCh38]
Chr7:98552880 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11454C>T (p.Ser3818=) single nucleotide variant not provided [RCV003879967] Chr7:99012187 [GRCh38]
Chr7:98609810 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9444G>A (p.Leu3148=) single nucleotide variant not provided [RCV003713387] Chr7:98988819 [GRCh38]
Chr7:98586442 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8337G>A (p.Ser2779=) single nucleotide variant not provided [RCV003829852] Chr7:98977028 [GRCh38]
Chr7:98574651 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6331G>A (p.Val2111Met) single nucleotide variant Inborn genetic diseases [RCV004366851]|not provided [RCV003830245] Chr7:98958080 [GRCh38]
Chr7:98555703 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.1490C>G (p.Ala497Gly) single nucleotide variant not provided [RCV003546086] Chr7:98910195 [GRCh38]
Chr7:98507818 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9591+17G>A single nucleotide variant not provided [RCV003882053] Chr7:98988983 [GRCh38]
Chr7:98586606 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5302G>A (p.Asp1768Asn) single nucleotide variant not provided [RCV003575670] Chr7:98950230 [GRCh38]
Chr7:98547853 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3175+8C>T single nucleotide variant not provided [RCV003577682] Chr7:98927374 [GRCh38]
Chr7:98524997 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6513T>C (p.Tyr2171=) single nucleotide variant not provided [RCV003826217] Chr7:98961284 [GRCh38]
Chr7:98558907 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6040G>A (p.Val2014Met) single nucleotide variant not provided [RCV003689624] Chr7:98956248 [GRCh38]
Chr7:98553871 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5463+10C>T single nucleotide variant not provided [RCV003831014] Chr7:98951014 [GRCh38]
Chr7:98548637 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8485G>T (p.Asp2829Tyr) single nucleotide variant not provided [RCV003544451] Chr7:98978310 [GRCh38]
Chr7:98575933 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4830G>A (p.Val1610=) single nucleotide variant not provided [RCV003691607] Chr7:98949458 [GRCh38]
Chr7:98547081 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3108C>T (p.Pro1036=) single nucleotide variant not provided [RCV003546334] Chr7:98927299 [GRCh38]
Chr7:98524922 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3763A>G (p.Thr1255Ala) single nucleotide variant not provided [RCV003662067] Chr7:98931576 [GRCh38]
Chr7:98529199 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6783C>T (p.Leu2261=) single nucleotide variant not provided [RCV003879724] Chr7:98962381 [GRCh38]
Chr7:98560004 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3853G>A (p.Val1285Ile) single nucleotide variant not provided [RCV003829684] Chr7:98933241 [GRCh38]
Chr7:98530864 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2007+13T>C single nucleotide variant not provided [RCV003824879] Chr7:98911284 [GRCh38]
Chr7:98508907 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8294A>G (p.Glu2765Gly) single nucleotide variant not provided [RCV003577465] Chr7:98976985 [GRCh38]
Chr7:98574608 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8832C>G (p.Ala2944=) single nucleotide variant not provided [RCV003695792] Chr7:98983269 [GRCh38]
Chr7:98580892 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2622+1G>A single nucleotide variant Hearing loss, autosomal dominant 75 [RCV003883271] Chr7:98917680 [GRCh38]
Chr7:98515303 [GRCh37]
Chr7:7q22.1
likely pathogenic
NM_001375524.1(TRRAP):c.6342+16G>A single nucleotide variant not provided [RCV003715918] Chr7:98958107 [GRCh38]
Chr7:98555730 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.776C>G (p.Ala259Gly) single nucleotide variant not provided [RCV003692615] Chr7:98899743 [GRCh38]
Chr7:98497366 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.2200-19C>T single nucleotide variant not provided [RCV003825721] Chr7:98915704 [GRCh38]
Chr7:98513327 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11031G>A (p.Thr3677=) single nucleotide variant not provided [RCV003826562] Chr7:99011144 [GRCh38]
Chr7:98608767 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8399A>T (p.Tyr2800Phe) single nucleotide variant not provided [RCV003660002] Chr7:98978224 [GRCh38]
Chr7:98575847 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6873C>T (p.Ser2291=) single nucleotide variant not provided [RCV003691013] Chr7:98964672 [GRCh38]
Chr7:98562295 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4693C>T (p.Leu1565=) single nucleotide variant not provided [RCV003544552] Chr7:98948590 [GRCh38]
Chr7:98546213 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6293A>G (p.Lys2098Arg) single nucleotide variant not provided [RCV003714539] Chr7:98958042 [GRCh38]
Chr7:98555665 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8325G>T (p.Arg2775=) single nucleotide variant not provided [RCV003713476] Chr7:98977016 [GRCh38]
Chr7:98574639 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7578G>T (p.Pro2526=) single nucleotide variant not provided [RCV003661661] Chr7:98970177 [GRCh38]
Chr7:98567800 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6258T>C (p.Pro2086=) single nucleotide variant not provided [RCV003715949] Chr7:98958007 [GRCh38]
Chr7:98555630 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2200-10C>T single nucleotide variant not provided [RCV003828679] Chr7:98915713 [GRCh38]
Chr7:98513336 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.151-17del deletion not provided [RCV003687154] Chr7:98890315 [GRCh38]
Chr7:98487938 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1623C>T (p.Phe541=) single nucleotide variant not provided [RCV003715968] Chr7:98910328 [GRCh38]
Chr7:98507951 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6936A>G (p.Leu2312=) single nucleotide variant not provided [RCV003544935] Chr7:98964735 [GRCh38]
Chr7:98562358 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.451-20A>G single nucleotide variant not provided [RCV003882615] Chr7:98895744 [GRCh38]
Chr7:98493367 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.711+14T>C single nucleotide variant not provided [RCV003690443] Chr7:98899513 [GRCh38]
Chr7:98497136 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3592-11C>T single nucleotide variant not provided [RCV003692439] Chr7:98931394 [GRCh38]
Chr7:98529017 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1122C>T (p.Leu374=) single nucleotide variant not provided [RCV003826814] Chr7:98908734 [GRCh38]
Chr7:98506357 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7647C>G (p.Val2549=) single nucleotide variant not provided [RCV003660677] Chr7:98970246 [GRCh38]
Chr7:98567869 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7298+16A>G single nucleotide variant not provided [RCV003662961] Chr7:98967178 [GRCh38]
Chr7:98564801 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2553G>A (p.Leu851=) single nucleotide variant not provided [RCV003690444] Chr7:98917610 [GRCh38]
Chr7:98515233 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.633+10T>G single nucleotide variant not provided [RCV003824656] Chr7:98897876 [GRCh38]
Chr7:98495499 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1479T>C (p.Ala493=) single nucleotide variant not provided [RCV003573474] Chr7:98910184 [GRCh38]
Chr7:98507807 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2786C>T (p.Ser929Phe) single nucleotide variant not provided [RCV003712786] Chr7:98921916 [GRCh38]
Chr7:98519539 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1302C>T (p.Ser434=) single nucleotide variant not provided [RCV003545492] Chr7:98908914 [GRCh38]
Chr7:98506537 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7639A>G (p.Thr2547Ala) single nucleotide variant not provided [RCV003877579] Chr7:98970238 [GRCh38]
Chr7:98567861 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1036+4C>T single nucleotide variant not provided [RCV003876273] Chr7:98903521 [GRCh38]
Chr7:98501144 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10304C>T (p.Thr3435Met) single nucleotide variant not provided [RCV003571998] Chr7:98994843 [GRCh38]
Chr7:98592466 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10914G>A (p.Ala3638=) single nucleotide variant not provided [RCV003546211] Chr7:99008537 [GRCh38]
Chr7:98606160 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4111+20_4111+29dup duplication not provided [RCV003688095] Chr7:98935693..98935694 [GRCh38]
Chr7:98533316..98533317 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4691C>T (p.Pro1564Leu) single nucleotide variant not provided [RCV003573802] Chr7:98948588 [GRCh38]
Chr7:98546211 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7839+11A>C single nucleotide variant not provided [RCV003659634] Chr7:98971956 [GRCh38]
Chr7:98569579 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2608G>A (p.Ala870Thr) single nucleotide variant not provided [RCV003698564] Chr7:98917665 [GRCh38]
Chr7:98515288 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4669-11A>G single nucleotide variant not provided [RCV003664181] Chr7:98948555 [GRCh38]
Chr7:98546178 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1351-5G>A single nucleotide variant TRRAP-related disorder [RCV004548712]|not provided [RCV003833745] Chr7:98910051 [GRCh38]
Chr7:98507674 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8248-8G>A single nucleotide variant not provided [RCV003549832] Chr7:98976931 [GRCh38]
Chr7:98574554 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3175+13G>A single nucleotide variant not provided [RCV003832877] Chr7:98927379 [GRCh38]
Chr7:98525002 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7807G>A (p.Asp2603Asn) single nucleotide variant not provided [RCV003664319] Chr7:98971913 [GRCh38]
Chr7:98569536 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4473+16_4473+19del microsatellite not provided [RCV003699804] Chr7:98943027..98943030 [GRCh38]
Chr7:98540650..98540653 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8238G>A (p.Pro2746=) single nucleotide variant not provided [RCV003832943] Chr7:98976761 [GRCh38]
Chr7:98574384 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1438G>A (p.Val480Met) single nucleotide variant Inborn genetic diseases [RCV004374028]|not provided [RCV003717780] Chr7:98910143 [GRCh38]
Chr7:98507766 [GRCh37]
Chr7:7q22.1
likely benign|uncertain significance
NM_001375524.1(TRRAP):c.4112-20C>G single nucleotide variant not provided [RCV003850472] Chr7:98937136 [GRCh38]
Chr7:98534759 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5084C>G (p.Thr1695Ser) single nucleotide variant not provided [RCV003833894] Chr7:98949790 [GRCh38]
Chr7:98547413 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8961C>T (p.Ile2987=) single nucleotide variant not provided [RCV003548152] Chr7:98983398 [GRCh38]
Chr7:98581021 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7114C>T (p.Arg2372Trp) single nucleotide variant not provided [RCV003665527] Chr7:98965833 [GRCh38]
Chr7:98563456 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9192A>G (p.Pro3064=) single nucleotide variant not provided [RCV003697098] Chr7:98984262 [GRCh38]
Chr7:98581885 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6870C>G (p.Pro2290=) single nucleotide variant not provided [RCV003849705] Chr7:98964669 [GRCh38]
Chr7:98562292 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.81T>C (p.Ala27=) single nucleotide variant not provided [RCV003664808] Chr7:98881231 [GRCh38]
Chr7:98478854 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8265T>G (p.Leu2755=) single nucleotide variant not provided [RCV003833393] Chr7:98976956 [GRCh38]
Chr7:98574579 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1191C>T (p.Leu397=) single nucleotide variant not provided [RCV003717391] Chr7:98908803 [GRCh38]
Chr7:98506426 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5937+16G>A single nucleotide variant not provided [RCV003835980] Chr7:98955320 [GRCh38]
Chr7:98552943 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4674G>T (p.Gly1558=) single nucleotide variant not provided [RCV003664045] Chr7:98948571 [GRCh38]
Chr7:98546194 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2823+6C>T single nucleotide variant not provided [RCV003852043] Chr7:98921959 [GRCh38]
Chr7:98519582 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3625A>G (p.Thr1209Ala) single nucleotide variant not provided [RCV003697577] Chr7:98931438 [GRCh38]
Chr7:98529061 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6714T>C (p.Ser2238=) single nucleotide variant not provided [RCV003836189] Chr7:98962312 [GRCh38]
Chr7:98559935 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11143-13T>C single nucleotide variant not provided [RCV003816775] Chr7:99011328 [GRCh38]
Chr7:98608951 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1173C>T (p.Pro391=) single nucleotide variant not provided [RCV003840295] Chr7:98908785 [GRCh38]
Chr7:98506408 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6387C>T (p.Leu2129=) single nucleotide variant not provided [RCV003833862] Chr7:98959388 [GRCh38]
Chr7:98557011 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4014+5G>T single nucleotide variant not provided [RCV003717989] Chr7:98933407 [GRCh38]
Chr7:98531030 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8826+9G>C single nucleotide variant not provided [RCV003673495] Chr7:98981969 [GRCh38]
Chr7:98579592 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9018C>T (p.Tyr3006=) single nucleotide variant not provided [RCV003854475] Chr7:98983455 [GRCh38]
Chr7:98581078 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2714T>C (p.Met905Thr) single nucleotide variant not provided [RCV003854518] Chr7:98921844 [GRCh38]
Chr7:98519467 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2499T>C (p.Ser833=) single nucleotide variant not provided [RCV003811389] Chr7:98917556 [GRCh38]
Chr7:98515179 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4561T>C (p.Cys1521Arg) single nucleotide variant not provided [RCV003580158] Chr7:98948233 [GRCh38]
Chr7:98545856 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5238G>C (p.Glu1746Asp) single nucleotide variant not provided [RCV003671207] Chr7:98950166 [GRCh38]
Chr7:98547789 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6432C>T (p.Asp2144=) single nucleotide variant not provided [RCV003700519] Chr7:98959433 [GRCh38]
Chr7:98557056 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5283T>C (p.Phe1761=) single nucleotide variant not provided [RCV003834511] Chr7:98950211 [GRCh38]
Chr7:98547834 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6482T>C (p.Met2161Thr) single nucleotide variant not provided [RCV003726839] Chr7:98959483 [GRCh38]
Chr7:98557106 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1119C>T (p.Pro373=) single nucleotide variant not provided [RCV003850697] Chr7:98908731 [GRCh38]
Chr7:98506354 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6245G>A (p.Ser2082Asn) single nucleotide variant not provided [RCV003580886] Chr7:98957994 [GRCh38]
Chr7:98555617 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3657G>A (p.Thr1219=) single nucleotide variant not provided [RCV003726483] Chr7:98931470 [GRCh38]
Chr7:98529093 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9766G>T (p.Val3256Leu) single nucleotide variant not provided [RCV003663764] Chr7:98992146 [GRCh38]
Chr7:98589769 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11278G>A (p.Gly3760Ser) single nucleotide variant not provided [RCV003549333] Chr7:99011476 [GRCh38]
Chr7:98609099 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8436G>A (p.Glu2812=) single nucleotide variant not provided [RCV003725830] Chr7:98978261 [GRCh38]
Chr7:98575884 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1785T>C (p.Tyr595=) single nucleotide variant not provided [RCV003562160] Chr7:98910580 [GRCh38]
Chr7:98508203 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5096A>C (p.Glu1699Ala) single nucleotide variant not provided [RCV003668770] Chr7:98949802 [GRCh38]
Chr7:98547425 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.10134C>T (p.Thr3378=) single nucleotide variant not provided [RCV003580418] Chr7:98994673 [GRCh38]
Chr7:98592296 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.800+20G>A single nucleotide variant not provided [RCV003834259] Chr7:98899787 [GRCh38]
Chr7:98497410 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9774C>G (p.Pro3258=) single nucleotide variant not provided [RCV003549821] Chr7:98992154 [GRCh38]
Chr7:98589777 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2679T>C (p.Arg893=) single nucleotide variant not provided [RCV003811143] Chr7:98921809 [GRCh38]
Chr7:98519432 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7626C>T (p.Ala2542=) single nucleotide variant not provided [RCV003702243] Chr7:98970225 [GRCh38]
Chr7:98567848 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8172G>C (p.Lys2724Asn) single nucleotide variant not provided [RCV003549837] Chr7:98976695 [GRCh38]
Chr7:98574318 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.368C>T (p.Thr123Met) single nucleotide variant not provided [RCV003561993] Chr7:98893799 [GRCh38]
Chr7:98491422 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4117C>A (p.Leu1373Ile) single nucleotide variant not provided [RCV003670526] Chr7:98937161 [GRCh38]
Chr7:98534784 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.800+14G>A single nucleotide variant not provided [RCV003816345] Chr7:98899781 [GRCh38]
Chr7:98497404 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10751C>A (p.Thr3584Lys) single nucleotide variant not provided [RCV003725611] Chr7:99005346 [GRCh38]
Chr7:98602969 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.4603C>T (p.Pro1535Ser) single nucleotide variant not provided [RCV003674031] Chr7:98948275 [GRCh38]
Chr7:98545898 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2642G>A (p.Arg881His) single nucleotide variant not provided [RCV003548088] Chr7:98921772 [GRCh38]
Chr7:98519395 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1683G>A (p.Thr561=) single nucleotide variant not provided [RCV003673251] Chr7:98910388 [GRCh38]
Chr7:98508011 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8928G>A (p.Thr2976=) single nucleotide variant not provided [RCV003855560] Chr7:98983365 [GRCh38]
Chr7:98580988 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9492G>A (p.Val3164=) single nucleotide variant not provided [RCV003666770] Chr7:98988867 [GRCh38]
Chr7:98586490 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4015-7T>C single nucleotide variant not provided [RCV003557781] Chr7:98935572 [GRCh38]
Chr7:98533195 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.7624G>T (p.Ala2542Ser) single nucleotide variant not provided [RCV003672827] Chr7:98970223 [GRCh38]
Chr7:98567846 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.11377A>G (p.Ile3793Val) single nucleotide variant not provided [RCV003703353] Chr7:99012110 [GRCh38]
Chr7:98609733 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.2116C>T (p.Leu706Phe) single nucleotide variant not provided [RCV003673994] Chr7:98912130 [GRCh38]
Chr7:98509753 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5679C>T (p.Leu1893=) single nucleotide variant not provided [RCV003855648] Chr7:98953382 [GRCh38]
Chr7:98551005 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4671G>C (p.Ala1557=) single nucleotide variant not provided [RCV003559069] Chr7:98948568 [GRCh38]
Chr7:98546191 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3429G>A (p.Glu1143=) single nucleotide variant not provided [RCV003558018] Chr7:98930668 [GRCh38]
Chr7:98528291 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1547_1555del (p.Ala516_Pro518del) deletion not provided [RCV003725364] Chr7:98910248..98910256 [GRCh38]
Chr7:98507871..98507879 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.8813C>T (p.Thr2938Met) single nucleotide variant not provided [RCV003813848] Chr7:98981947 [GRCh38]
Chr7:98579570 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7478T>C (p.Met2493Thr) single nucleotide variant not provided [RCV003725761] Chr7:98967664 [GRCh38]
Chr7:98565287 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6096+17C>T single nucleotide variant not provided [RCV003671572] Chr7:98956321 [GRCh38]
Chr7:98553944 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8228G>A (p.Ser2743Asn) single nucleotide variant not provided [RCV003814162] Chr7:98976751 [GRCh38]
Chr7:98574374 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.4990C>T (p.Leu1664=) single nucleotide variant not provided [RCV003815144] Chr7:98949696 [GRCh38]
Chr7:98547319 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1146C>T (p.Leu382=) single nucleotide variant not provided [RCV003725928] Chr7:98908758 [GRCh38]
Chr7:98506381 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4473+12G>A single nucleotide variant not provided [RCV003839524] Chr7:98943029 [GRCh38]
Chr7:98540652 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10371G>A (p.Lys3457=) single nucleotide variant not provided [RCV003817129] Chr7:99004251 [GRCh38]
Chr7:98601874 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5748C>T (p.Leu1916=) single nucleotide variant not provided [RCV003836972] Chr7:98955115 [GRCh38]
Chr7:98552738 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10203C>T (p.Asn3401=) single nucleotide variant not provided [RCV003559399] Chr7:98994742 [GRCh38]
Chr7:98592365 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.6175G>A (p.Val2059Met) single nucleotide variant not provided [RCV003724444] Chr7:98956477 [GRCh38]
Chr7:98554100 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6829+17C>T single nucleotide variant not provided [RCV003723513] Chr7:98962444 [GRCh38]
Chr7:98560067 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3828G>A (p.Thr1276=) single nucleotide variant not provided [RCV003854474] Chr7:98931641 [GRCh38]
Chr7:98529264 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11517C>T (p.Leu3839=) single nucleotide variant not provided [RCV003850168] Chr7:99012250 [GRCh38]
Chr7:98609873 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.4828G>A (p.Val1610Met) single nucleotide variant not provided [RCV003580397] Chr7:98949456 [GRCh38]
Chr7:98547079 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11414C>T (p.Ser3805Phe) single nucleotide variant not provided [RCV003659605] Chr7:99012147 [GRCh38]
Chr7:98609770 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3459G>A (p.Ala1153=) single nucleotide variant not provided [RCV003726397] Chr7:98930698 [GRCh38]
Chr7:98528321 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2975+13C>T single nucleotide variant not provided [RCV003840241] Chr7:98925276 [GRCh38]
Chr7:98522899 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.633+10T>A single nucleotide variant not provided [RCV003723715] Chr7:98897876 [GRCh38]
Chr7:98495499 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.846T>G (p.Ala282=) single nucleotide variant not provided [RCV003838735] Chr7:98900669 [GRCh38]
Chr7:98498292 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.797C>T (p.Ala266Val) single nucleotide variant not provided [RCV003726140] Chr7:98899764 [GRCh38]
Chr7:98497387 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9289-9T>C single nucleotide variant not provided [RCV003561484] Chr7:98984935 [GRCh38]
Chr7:98582558 [GRCh37]
Chr7:7q22.1
benign
NM_001375524.1(TRRAP):c.5628G>A (p.Leu1876=) single nucleotide variant not provided [RCV003561836] Chr7:98953331 [GRCh38]
Chr7:98550954 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10062C>T (p.Leu3354=) single nucleotide variant not provided [RCV003667247] Chr7:98994601 [GRCh38]
Chr7:98592224 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3853-13T>G single nucleotide variant not provided [RCV003833913] Chr7:98933228 [GRCh38]
Chr7:98530851 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2975+17C>G single nucleotide variant not provided [RCV003837110] Chr7:98925280 [GRCh38]
Chr7:98522903 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10757C>T (p.Pro3586Leu) single nucleotide variant not provided [RCV003723759] Chr7:99008380 [GRCh38]
Chr7:98606003 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.6830-13T>C single nucleotide variant not provided [RCV003837586] Chr7:98964616 [GRCh38]
Chr7:98562239 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9289-6G>T single nucleotide variant not provided [RCV003724951] Chr7:98984938 [GRCh38]
Chr7:98582561 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2975+17C>T single nucleotide variant not provided [RCV003668506] Chr7:98925280 [GRCh38]
Chr7:98522903 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1471C>T (p.Pro491Ser) single nucleotide variant not provided [RCV003816510] Chr7:98910176 [GRCh38]
Chr7:98507799 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.5345A>G (p.His1782Arg) single nucleotide variant Inborn genetic diseases [RCV004366971]|not provided [RCV003849706] Chr7:98950886 [GRCh38]
Chr7:98548509 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.1437C>T (p.Ala479=) single nucleotide variant not provided [RCV003836806] Chr7:98910142 [GRCh38]
Chr7:98507765 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.1695A>G (p.Thr565=) single nucleotide variant not provided [RCV003854364] Chr7:98910400 [GRCh38]
Chr7:98508023 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.3789G>A (p.Ser1263=) single nucleotide variant not provided [RCV003725107] Chr7:98931602 [GRCh38]
Chr7:98529225 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8385+15A>T single nucleotide variant not provided [RCV003659300] Chr7:98977091 [GRCh38]
Chr7:98574714 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.8248-14C>T single nucleotide variant not provided [RCV003668137] Chr7:98976925 [GRCh38]
Chr7:98574548 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.11571C>T (p.Asn3857=) single nucleotide variant not provided [RCV003668487] Chr7:99012304 [GRCh38]
Chr7:98609927 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.9669A>T (p.Pro3223=) single nucleotide variant not provided [RCV003667700] Chr7:98990532 [GRCh38]
Chr7:98588155 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.2496G>A (p.Val832=) single nucleotide variant not provided [RCV003832479] Chr7:98917553 [GRCh38]
Chr7:98515176 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.5949G>T (p.Pro1983=) single nucleotide variant not provided [RCV003854432] Chr7:98956157 [GRCh38]
Chr7:98553780 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.6632G>C (p.Gly2211Ala) single nucleotide variant not provided [RCV003672603] Chr7:98961403 [GRCh38]
Chr7:98559026 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.574A>T (p.Met192Leu) single nucleotide variant not provided [RCV003667787] Chr7:98897807 [GRCh38]
Chr7:98495430 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.9389+4T>C single nucleotide variant not provided [RCV003717511] Chr7:98985048 [GRCh38]
Chr7:98582671 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.11283G>A (p.Pro3761=) single nucleotide variant TRRAP-related disorder [RCV004554254]|not provided [RCV003559435] Chr7:99011481 [GRCh38]
Chr7:98609104 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.10536-13C>T single nucleotide variant not provided [RCV003837310] Chr7:99005118 [GRCh38]
Chr7:98602741 [GRCh37]
Chr7:7q22.1
likely benign
NM_001375524.1(TRRAP):c.248A>G (p.Glu83Gly) single nucleotide variant not provided [RCV003701549] Chr7:98890432 [GRCh38]
Chr7:98488055 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.7773T>G (p.Ile2591Met) single nucleotide variant not provided [RCV003579850] Chr7:98971879 [GRCh38]
Chr7:98569502 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.3376C>G (p.Leu1126Val) single nucleotide variant not provided [RCV003663713] Chr7:98930189 [GRCh38]
Chr7:98527812 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001375524.1(TRRAP):c.73