DIS3L2 (DIS3 like 3'-5' exoribonuclease 2) - Rat Genome Database

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Gene: DIS3L2 (DIS3 like 3'-5' exoribonuclease 2) Homo sapiens
Analyze
Symbol: DIS3L2
Name: DIS3 like 3'-5' exoribonuclease 2
RGD ID: 1604754
HGNC Page HGNC:28648
Description: Enables 3'-5'-RNA exonuclease activity; magnesium ion binding activity; and poly(U) RNA binding activity. Involved in RNA catabolic process; mitotic sister chromatid separation; and negative regulation of cell population proliferation. Located in P-body. Implicated in Perlman syndrome and nephroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DIS3 mitotic control homolog-like 2; DIS3-like exonuclease 2; FAM6A; family with sequence similarity 6, member A; FLJ36974; hDIS3L2; MGC42174; PRLMNS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: DIS3L2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382231,961,713 - 232,344,350 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2231,961,245 - 232,344,350 (+)EnsemblGRCh38hg38GRCh38
GRCh372232,826,423 - 233,209,060 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362232,534,537 - 232,910,152 (+)NCBINCBI36Build 36hg18NCBI36
Celera2226,589,534 - 226,966,072 (+)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2224,677,041 - 225,059,431 (+)NCBIHuRef
CHM1_12232,832,242 - 233,214,871 (+)NCBICHM1_1
T2T-CHM13v2.02232,448,342 - 232,831,055 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
P-body  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal mass  (IAGP)
Abdominal pain  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pancreas morphology  (IAGP)
Abnormal upper lip morphology  (IAGP)
Abnormal uterus morphology  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Aniridia  (IAGP)
Anteverted nares  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Broad alveolar ridges  (IAGP)
Capillary hemangioma  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Depressed nasal bridge  (IAGP)
Distal ileal atresia  (IAGP)
Dolichocephaly  (IAGP)
Duplication of renal pelvis  (IAGP)
Dyspnea  (IAGP)
Ectopic kidney  (IAGP)
Edema  (IAGP)
Epicanthus  (IAGP)
Everted upper lip vermilion  (IAGP)
Femoral hernia  (IAGP)
Fever  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hemihypertrophy  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High, narrow palate  (IAGP)
Horseshoe kidney  (IAGP)
Hypercalcemia  (IAGP)
Hyperinsulinemia  (IAGP)
Hypertension  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the abdominal wall musculature  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Interrupted aortic arch  (IAGP)
Large for gestational age  (IAGP)
Long upper lip  (IAGP)
Low-set ears  (IAGP)
Lymphadenopathy  (IAGP)
Macrocephaly  (IAGP)
Macroscopic hematuria  (IAGP)
Malaise  (IAGP)
Micrognathia  (IAGP)
Microscopic hematuria  (IAGP)
Naevus flammeus of the eyelid  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the lung  (IAGP)
Nephroblastoma  (IAGP)
Nephroblastomatosis  (IAGP)
Nephrogenic rest  (IAGP)
Open mouth  (IAGP)
Pancreatic islet-cell hyperplasia  (IAGP)
Polycythemia  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Ptosis  (IAGP)
Reduced von Willebrand factor activity  (IAGP)
Renal hamartoma  (IAGP)
Retrognathia  (IAGP)
Round face  (IAGP)
Seizure  (IAGP)
Short nose  (IAGP)
Skeletal dysplasia  (IAGP)
Smooth philtrum  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Tall stature  (IAGP)
Tented upper lip vermilion  (IAGP)
Thickened helices  (IAGP)
Varicocele  (IAGP)
Visceromegaly  (IAGP)
Volvulus  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Astuti D, etal., Nat Genet. 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11352565   PMID:12477932   PMID:14702039   PMID:16169070   PMID:16344560   PMID:18391951   PMID:19570815   PMID:20189936   PMID:20301471   PMID:20379614   PMID:21282530   PMID:21873635  
PMID:23503588   PMID:23563607   PMID:23613427   PMID:23756462   PMID:24141620   PMID:24457600   PMID:25331947   PMID:25429064   PMID:25670083   PMID:25921289   PMID:26344197   PMID:26496610  
PMID:26809675   PMID:26822237   PMID:27431325   PMID:27647875   PMID:27881476   PMID:27911720   PMID:29100804   PMID:29395067   PMID:29467282   PMID:29507755   PMID:30021884   PMID:31331910  
PMID:31350202   PMID:31466720   PMID:31932471   PMID:32374871   PMID:32457326   PMID:32488030   PMID:32665550   PMID:32694731   PMID:32807901   PMID:33961781   PMID:35013218   PMID:35831314  
PMID:36215168   PMID:36517590   PMID:37314180   PMID:37340282   PMID:37689310  


Genomics

Comparative Map Data
DIS3L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382231,961,713 - 232,344,350 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2231,961,245 - 232,344,350 (+)EnsemblGRCh38hg38GRCh38
GRCh372232,826,423 - 233,209,060 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362232,534,537 - 232,910,152 (+)NCBINCBI36Build 36hg18NCBI36
Celera2226,589,534 - 226,966,072 (+)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2224,677,041 - 225,059,431 (+)NCBIHuRef
CHM1_12232,832,242 - 233,214,871 (+)NCBICHM1_1
T2T-CHM13v2.02232,448,342 - 232,831,055 (+)NCBIT2T-CHM13v2.0
Dis3l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39186,629,646 - 86,977,819 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl186,631,530 - 86,977,817 (+)EnsemblGRCm39 Ensembl
GRCm38186,701,924 - 87,050,097 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl186,703,808 - 87,050,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv37188,600,379 - 88,946,672 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36188,535,014 - 88,881,263 (+)NCBIMGSCv36mm8
Celera189,673,472 - 90,022,293 (+)NCBICelera
Cytogenetic Map1C5NCBI
cM Map143.99NCBI
Dis3l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8994,802,056 - 95,184,523 (+)NCBIGRCr8
mRatBN7.2987,355,409 - 87,736,616 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl987,356,457 - 87,736,616 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx995,772,927 - 96,160,932 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09100,901,251 - 101,296,662 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0999,284,763 - 99,664,872 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0993,767,837 - 94,161,106 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl993,660,680 - 94,160,760 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0993,495,138 - 93,886,547 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4985,470,810 - 85,855,679 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera984,770,512 - 85,150,470 (+)NCBICelera
Cytogenetic Map9q35NCBI
Dis3l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554533,559,067 - 3,830,064 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554533,558,744 - 3,851,222 (-)NCBIChiLan1.0ChiLan1.0
DIS3L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213134,559,408 - 134,928,324 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B134,574,474 - 134,943,290 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B119,187,659 - 119,558,347 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B237,976,038 - 238,346,098 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B238,030,931 - 238,347,570 (+)Ensemblpanpan1.1panPan2
DIS3L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12543,754,382 - 44,099,497 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2543,754,484 - 44,095,381 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2544,247,553 - 44,594,062 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02544,010,739 - 44,357,418 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2544,010,802 - 44,353,289 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12543,937,826 - 44,283,331 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02543,781,874 - 44,128,602 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02543,936,863 - 44,283,235 (+)NCBIUU_Cfam_GSD_1.0
Dis3l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303185,881,165 - 186,220,945 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365254,719,121 - 5,008,014 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365254,718,773 - 5,058,512 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIS3L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15132,540,829 - 132,906,232 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115132,540,784 - 132,902,943 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215146,803,737 - 146,810,407 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DIS3L2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110117,959,396 - 118,350,728 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10117,960,326 - 118,352,176 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604081,041,213 - 81,483,661 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dis3l2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248434,901,316 - 5,196,827 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248434,900,810 - 5,196,827 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DIS3L2
2099 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152383.5(DIS3L2):c.1969C>T (p.Arg657Cys) single nucleotide variant Inborn genetic diseases [RCV002527770]|Perlman syndrome [RCV000554686] Chr2:232330735 [GRCh38]
Chr2:233195445 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.880A>G (p.Lys294Glu) single nucleotide variant Perlman syndrome [RCV000528686] Chr2:232136649 [GRCh38]
Chr2:233001359 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.620C>T (p.Ala207Val) single nucleotide variant Perlman syndrome [RCV000545961] Chr2:232130637 [GRCh38]
Chr2:232995347 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1285G>A (p.Glu429Lys) single nucleotide variant Perlman syndrome [RCV000548609] Chr2:232238613 [GRCh38]
Chr2:233103323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2290-5del deletion Perlman syndrome [RCV000529825] Chr2:232334626 [GRCh38]
Chr2:233199336 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2620_2621inv (p.Glu874Ser) inversion Perlman syndrome [RCV000549000] Chr2:232336592..232336593 [GRCh38]
Chr2:233201302..233201303 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1915G>C (p.Ala639Pro) single nucleotide variant Perlman syndrome [RCV000529213] Chr2:232329988 [GRCh38]
Chr2:233194698 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2233G>A (p.Ala745Thr) single nucleotide variant Perlman syndrome [RCV000526815] Chr2:232334443 [GRCh38]
Chr2:233199153 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1294A>G (p.Thr432Ala) single nucleotide variant Perlman syndrome [RCV000524759] Chr2:232238622 [GRCh38]
Chr2:233103332 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2628C>T (p.Asp876=) single nucleotide variant Perlman syndrome [RCV000525008]|not provided [RCV003437250] Chr2:232336600 [GRCh38]
Chr2:233201310 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740G>T (p.Lys580Asn) single nucleotide variant Perlman syndrome [RCV000527706] Chr2:232329813 [GRCh38]
Chr2:233194523 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1277T>G (p.Val426Gly) single nucleotide variant Perlman syndrome [RCV000527973] Chr2:232238605 [GRCh38]
Chr2:233103315 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2077G>A (p.Val693Met) single nucleotide variant Perlman syndrome [RCV000550690] Chr2:232333906 [GRCh38]
Chr2:233198616 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2245G>A (p.Val749Met) single nucleotide variant Perlman syndrome [RCV000532877] Chr2:232334455 [GRCh38]
Chr2:233199165 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1911A>G (p.Ala637=) single nucleotide variant Perlman syndrome [RCV000553367] Chr2:232329984 [GRCh38]
Chr2:233194694 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-6C>G single nucleotide variant Perlman syndrome [RCV000525651] Chr2:232163453 [GRCh38]
Chr2:233028163 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.86G>A (p.Gly29Asp) single nucleotide variant DIS3L2-related disorder [RCV004751588]|Inborn genetic diseases [RCV002527773]|Perlman syndrome [RCV000548149]|not provided [RCV004592570] Chr2:232015547 [GRCh38]
Chr2:232880257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1585G>A (p.Val529Ile) single nucleotide variant Inborn genetic diseases [RCV004609431]|Perlman syndrome [RCV000544676]|not provided [RCV004691865] Chr2:232263366 [GRCh38]
Chr2:233128076 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_152383.5(DIS3L2):c.2253G>A (p.Glu751=) single nucleotide variant Perlman syndrome [RCV000545333] Chr2:232334463 [GRCh38]
Chr2:233199173 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1308G>A (p.Leu436=) single nucleotide variant DIS3L2-related disorder [RCV003905377]|Perlman syndrome [RCV000555055] Chr2:232238636 [GRCh38]
Chr2:233103346 [GRCh37]
Chr2:2q37.1		 likely benign
NG_032572.1:g.89357_172136del deletion Perlman syndrome [RCV000024119] Chr2:2q37.1 pathogenic
NG_032572.1:g.(180137_206876)_(207051_253743)del deletion Perlman syndrome [RCV000024120] Chr2:232163458..232163633 [GRCh38]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr) single nucleotide variant Perlman syndrome [RCV000024121] Chr2:232263247 [GRCh38]
Chr2:233127957 [GRCh37]
Chr2:2q37.1		 pathogenic|uncertain significance
NM_152383.5(DIS3L2):c.2394+5G>A single nucleotide variant Perlman syndrome [RCV000024122]|not provided [RCV003125835] Chr2:232334740 [GRCh38]
Chr2:233199450 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|uncertain significance
NM_001257281.2(DIS3L2):c.1625dup (p.His542fs) duplication not provided [RCV000722847] Chr2:232343387..232343388 [GRCh38]
Chr2:233208097..233208098 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2560A>T (p.Ser854Cys) single nucleotide variant Perlman syndrome [RCV000528060] Chr2:232336532 [GRCh38]
Chr2:233201242 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1660-7T>C single nucleotide variant Perlman syndrome [RCV000544320] Chr2:232300033 [GRCh38]
Chr2:233164743 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-3C>T single nucleotide variant Perlman syndrome [RCV000550989] Chr2:232329810 [GRCh38]
Chr2:233194520 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1011A>G (p.Leu337=) single nucleotide variant Perlman syndrome [RCV000530195] Chr2:232163519 [GRCh38]
Chr2:233028229 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=) single nucleotide variant DIS3L2-related disorder [RCV003900161]|Perlman syndrome [RCV000543772] Chr2:232334735 [GRCh38]
Chr2:233199445 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.563A>T (p.Asp188Val) single nucleotide variant Perlman syndrome [RCV000552937] Chr2:232087683 [GRCh38]
Chr2:232952393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1377C>T (p.Ser459=) single nucleotide variant Perlman syndrome [RCV000531253] Chr2:232249298 [GRCh38]
Chr2:233114008 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1922A>G (p.Asn641Ser) single nucleotide variant Perlman syndrome [RCV000546243] Chr2:232329995 [GRCh38]
Chr2:233194705 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2309C>T (p.Ser770Leu) single nucleotide variant Perlman syndrome [RCV000546832] Chr2:232334650 [GRCh38]
Chr2:233199360 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
NM_152383.5(DIS3L2):c.416C>T (p.Ser139Leu) single nucleotide variant Perlman syndrome [RCV001248500] Chr2:232087536 [GRCh38]
Chr2:232952246 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2157A>T (p.Leu719Phe) single nucleotide variant Perlman syndrome [RCV001303173] Chr2:232333986 [GRCh38]
Chr2:233198696 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1943T>G (p.Phe648Cys) single nucleotide variant Perlman syndrome [RCV001302486] Chr2:232330709 [GRCh38]
Chr2:233195419 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1937A>C (p.Gln646Pro) single nucleotide variant Perlman syndrome [RCV001294429] Chr2:232330703 [GRCh38]
Chr2:233195413 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.950+4G>C single nucleotide variant Perlman syndrome [RCV001312695] Chr2:232136723 [GRCh38]
Chr2:233001433 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1 copy number loss See cases [RCV000133712] Chr2:231892041..232652305 [GRCh38]
Chr2:232756751..233517015 [GRCh37]
Chr2:232464995..233225259 [NCBI36]
Chr2:2q37.1		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
NM_152383.5(DIS3L2):c.-142T>A single nucleotide variant Perlman syndrome [RCV000262320] Chr2:231961717 [GRCh38]
Chr2:232826427 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) single nucleotide variant DIS3L2-related disorder [RCV003922447]|Perlman syndrome [RCV000263164] Chr2:232210359 [GRCh38]
Chr2:233075069 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1298G>A (p.Ser433Asn) single nucleotide variant Perlman syndrome [RCV000542456] Chr2:232238626 [GRCh38]
Chr2:233103336 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1991T>A (p.Met664Lys) single nucleotide variant Perlman syndrome [RCV000543178] Chr2:232330757 [GRCh38]
Chr2:233195467 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2011A>G (p.Met671Val) single nucleotide variant Perlman syndrome [RCV000544682] Chr2:232333840 [GRCh38]
Chr2:233198550 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1795C>T (p.Arg599Cys) single nucleotide variant DIS3L2-related disorder [RCV003409790]|Inborn genetic diseases [RCV002528350]|Perlman syndrome [RCV000548381] Chr2:232329868 [GRCh38]
Chr2:233194578 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1836G>C (p.Pro612=) single nucleotide variant Perlman syndrome [RCV000228044] Chr2:232329909 [GRCh38]
Chr2:233194619 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) single nucleotide variant Perlman syndrome [RCV000230534]|not provided [RCV004692865] Chr2:232334670 [GRCh38]
Chr2:233199380 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) single nucleotide variant Perlman syndrome [RCV000228697]|not provided [RCV001558824]|not specified [RCV001795374] Chr2:232263269 [GRCh38]
Chr2:233127979 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) single nucleotide variant DIS3L2-related disorder [RCV004751393]|Perlman syndrome [RCV000231014]|not provided [RCV004584639] Chr2:232263211 [GRCh38]
Chr2:233127921 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1638C>T (p.Asp546=) single nucleotide variant DIS3L2-related disorder [RCV003967667]|Perlman syndrome [RCV000231470] Chr2:232263419 [GRCh38]
Chr2:233128129 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923T>C (p.Asn641=) single nucleotide variant Perlman syndrome [RCV000229626] Chr2:232329996 [GRCh38]
Chr2:233194706 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=) single nucleotide variant DIS3L2-related disorder [RCV003919986]|Perlman syndrome [RCV000230078] Chr2:232333953 [GRCh38]
Chr2:233198663 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) single nucleotide variant DIS3L2-related disorder [RCV003417839]|Inborn genetic diseases [RCV002519805]|Perlman syndrome [RCV000230330]|not provided [RCV000726010] Chr2:232087530 [GRCh38]
Chr2:232952240 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=) single nucleotide variant DIS3L2-related disorder [RCV003939899]|Perlman syndrome [RCV000232381]|not provided [RCV003437030]|not specified [RCV003150999] Chr2:232136564 [GRCh38]
Chr2:233001274 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.301G>T (p.Ala101Ser) single nucleotide variant DIS3L2-related disorder [RCV004751394]|Perlman syndrome [RCV000230997]|not provided [RCV001731459] Chr2:232030015 [GRCh38]
Chr2:232894725 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.871G>C (p.Ala291Pro) single nucleotide variant DIS3L2-related disorder [RCV004751396]|Perlman syndrome [RCV000226084] Chr2:232136640 [GRCh38]
Chr2:233001350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) single nucleotide variant DIS3L2-related disorder [RCV004730914]|Perlman syndrome [RCV000226172]|not provided [RCV003430797] Chr2:232333896 [GRCh38]
Chr2:233198606 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.702+10T>G single nucleotide variant Perlman syndrome [RCV000231852]|not provided [RCV001579837]|not specified [RCV001820774] Chr2:232130729 [GRCh38]
Chr2:232995439 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1894G>A (p.Val632Met) single nucleotide variant Inborn genetic diseases [RCV003278716]|Perlman syndrome [RCV000231948] Chr2:232329967 [GRCh38]
Chr2:233194677 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1806C>T (p.Pro602=) single nucleotide variant DIS3L2-related disorder [RCV003907897]|Perlman syndrome [RCV000226390] Chr2:232329879 [GRCh38]
Chr2:233194589 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1911A>C (p.Ala637=) single nucleotide variant DIS3L2-related disorder [RCV003939898]|Perlman syndrome [RCV000226837]|not provided [RCV003430796] Chr2:232329984 [GRCh38]
Chr2:233194694 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.2436G>A (p.Lys812=) single nucleotide variant Perlman syndrome [RCV001399654] Chr2:232335814 [GRCh38]
Chr2:233200524 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) single nucleotide variant DIS3L2-related disorder [RCV003919985]|Perlman syndrome [RCV000233813]|not provided [RCV001762549] Chr2:232263228 [GRCh38]
Chr2:233127938 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2270del (p.Phe757fs) deletion Perlman syndrome [RCV000232872] Chr2:232334479 [GRCh38]
Chr2:233199189 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.366+9A>T single nucleotide variant Perlman syndrome [RCV000227570] Chr2:232030089 [GRCh38]
Chr2:232894799 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=) single nucleotide variant Perlman syndrome [RCV000233332]|not provided [RCV001589200]|not specified [RCV001820773] Chr2:232334711 [GRCh38]
Chr2:233199421 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.2060G>A (p.Arg687Gln) single nucleotide variant Perlman syndrome [RCV000233538] Chr2:232333889 [GRCh38]
Chr2:233198599 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2295T>C (p.Ser765=) single nucleotide variant Perlman syndrome [RCV000227771]|not provided [RCV001533883] Chr2:232334636 [GRCh38]
Chr2:233199346 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+4A>G single nucleotide variant DIS3L2-related disorder [RCV003955376]|Perlman syndrome [RCV000234703] Chr2:232130723 [GRCh38]
Chr2:232995433 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.309T>C (p.Asn103=) single nucleotide variant Perlman syndrome [RCV000233796] Chr2:232030023 [GRCh38]
Chr2:232894733 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1097A>C (p.Glu366Ala) single nucleotide variant Perlman syndrome [RCV000228252] Chr2:232163605 [GRCh38]
Chr2:233028315 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.783G>A (p.Leu261=) single nucleotide variant Perlman syndrome [RCV000228398] Chr2:232136552 [GRCh38]
Chr2:233001262 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.424C>A (p.Pro142Thr) single nucleotide variant DIS3L2-related disorder [RCV004751395]|Perlman syndrome [RCV000234181] Chr2:232087544 [GRCh38]
Chr2:232952254 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=) single nucleotide variant Perlman syndrome [RCV000229140]|not provided [RCV001575983]|not specified [RCV001573181] Chr2:232087546 [GRCh38]
Chr2:232952256 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.2559C>T (p.Tyr853=) single nucleotide variant Perlman syndrome [RCV000547487] Chr2:232336531 [GRCh38]
Chr2:233201241 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) single nucleotide variant Perlman syndrome [RCV000546787] Chr2:232163595 [GRCh38]
Chr2:233028305 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1237G>A (p.Val413Met) single nucleotide variant Perlman syndrome [RCV000547836] Chr2:232238565 [GRCh38]
Chr2:233103275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2646A>G (p.Ser882=) single nucleotide variant Perlman syndrome [RCV000371231]|not provided [RCV001683138]|not specified [RCV000243602] Chr2:232336618 [GRCh38]
Chr2:232336618..232336619 [GRCh38]
Chr2:233201328 [GRCh37]
Chr2:233201328..233201329 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=) single nucleotide variant Perlman syndrome [RCV000284852] Chr2:232329981 [GRCh38]
Chr2:233194691 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln) single nucleotide variant Perlman syndrome [RCV000325489]|not provided [RCV001610753]|not specified [RCV000251804] Chr2:232263229 [GRCh38]
Chr2:233127939 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1204+4G>A single nucleotide variant Perlman syndrome [RCV000551027] Chr2:232210409 [GRCh38]
Chr2:233075119 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.456A>G (p.Gln152=) single nucleotide variant Perlman syndrome [RCV000339504]|not provided [RCV001660367]|not specified [RCV000247156] Chr2:232087576 [GRCh38]
Chr2:232952286 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.*13G>A single nucleotide variant Perlman syndrome [RCV000269764]|not provided [RCV003221932] Chr2:232336643 [GRCh38]
Chr2:233201353 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1825C>T (p.Arg609Trp) single nucleotide variant Perlman syndrome [RCV000525312] Chr2:232329898 [GRCh38]
Chr2:233194608 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.336C>T (p.Val112=) single nucleotide variant Perlman syndrome [RCV000549927] Chr2:232030050 [GRCh38]
Chr2:232894760 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2243_2248delinsACATGA (p.Arg748_Gln750delinsHisMetLys) indel Perlman syndrome [RCV000552326] Chr2:232334453..232334458 [GRCh38]
Chr2:233199163..233199168 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.4(DIS3L2):c.951-?_1124+?del deletion Perlman syndrome [RCV000240356] Chr2:232163459..232163632 [GRCh38]
Chr2:233028169..233028342 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.*103A>G single nucleotide variant Perlman syndrome [RCV000273156]|not provided [RCV001636936] Chr2:232336733 [GRCh38]
Chr2:233201443 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1425+13A>G single nucleotide variant Perlman syndrome [RCV000277482] Chr2:232249359 [GRCh38]
Chr2:233114069 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=) single nucleotide variant Perlman syndrome [RCV000314381] Chr2:232336609 [GRCh38]
Chr2:233201319 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2187C>T (p.Pro729=) single nucleotide variant Perlman syndrome [RCV000300398]|not provided [RCV001528029]|not specified [RCV001795953] Chr2:232334397 [GRCh38]
Chr2:233199107 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.4(DIS3L2):c.-250C>G single nucleotide variant Perlman syndrome [RCV000316454] Chr2:231961609 [GRCh38]
Chr2:232826319 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=) single nucleotide variant Perlman syndrome [RCV000376798] Chr2:232329882 [GRCh38]
Chr2:233194592 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.712A>G (p.Ile238Val) single nucleotide variant Perlman syndrome [RCV000399545] Chr2:232136481 [GRCh38]
Chr2:233001191 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*127A>G single nucleotide variant Perlman syndrome [RCV000377943] Chr2:232336757 [GRCh38]
Chr2:233201467 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=) single nucleotide variant Perlman syndrome [RCV000400432]|not provided [RCV003437070] Chr2:232087639 [GRCh38]
Chr2:232952349 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=) single nucleotide variant Perlman syndrome [RCV000401302]|not provided [RCV003437071] Chr2:232335802 [GRCh38]
Chr2:233200512 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.-102G>A single nucleotide variant Perlman syndrome [RCV000319814] Chr2:231961757 [GRCh38]
Chr2:232826467 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) single nucleotide variant DIS3L2-related disorder [RCV003950155]|Perlman syndrome [RCV000287903]|not provided [RCV003430851] Chr2:232024329 [GRCh38]
Chr2:232889039 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.674C>T (p.Ser225Leu) single nucleotide variant Perlman syndrome [RCV000304333]|not provided [RCV004694537] Chr2:232130691 [GRCh38]
Chr2:232995401 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1599C>T (p.His533=) single nucleotide variant Perlman syndrome [RCV000290635]|not provided [RCV003457673] Chr2:232263380 [GRCh38]
Chr2:233128090 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.265-15C>A single nucleotide variant Perlman syndrome [RCV000345226]|not provided [RCV001546311] Chr2:232029964 [GRCh38]
Chr2:232894674 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.34C>T (p.Pro12Ser) single nucleotide variant Perlman syndrome [RCV000389196]|not provided [RCV001672573] Chr2:232014961 [GRCh38]
Chr2:232879671 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val) single nucleotide variant Inborn genetic diseases [RCV002521416]|Perlman syndrome [RCV000366738] Chr2:232334417 [GRCh38]
Chr2:233199127 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=) single nucleotide variant DIS3L2-related disorder [RCV003897765]|Perlman syndrome [RCV000390214] Chr2:232333980 [GRCh38]
Chr2:233198690 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=) single nucleotide variant DIS3L2-related disorder [RCV003950156]|Perlman syndrome [RCV000329100] Chr2:232300060 [GRCh38]
Chr2:233164770 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1317+15C>G single nucleotide variant Perlman syndrome [RCV000369890] Chr2:232238660 [GRCh38]
Chr2:233103370 [GRCh37]
Chr2:2q37.1		 benign|likely benign|uncertain significance
NM_152383.5(DIS3L2):c.*255C>T single nucleotide variant Perlman syndrome [RCV000371998] Chr2:232336885 [GRCh38]
Chr2:233201595 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=) single nucleotide variant Perlman syndrome [RCV000331495]|not provided [RCV001683339]|not specified [RCV001795952] Chr2:232210371 [GRCh38]
Chr2:232210371..232210372 [GRCh38]
Chr2:233075081 [GRCh37]
Chr2:233075081..233075082 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.*558T>C single nucleotide variant Perlman syndrome [RCV000350926]|not provided [RCV004710882] Chr2:232337188 [GRCh38]
Chr2:233201898 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.-52A>G single nucleotide variant Perlman syndrome [RCV000350964] Chr2:232014876 [GRCh38]
Chr2:232879586 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2080C>T (p.Pro694Ser) single nucleotide variant Perlman syndrome [RCV000279020] Chr2:232333909 [GRCh38]
Chr2:233198619 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*301dup duplication Perlman syndrome [RCV000280020] Chr2:232336924..232336925 [GRCh38]
Chr2:233201634..233201635 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1977G>A (p.Glu659=) single nucleotide variant Perlman syndrome [RCV000530719] Chr2:232330743 [GRCh38]
Chr2:233195453 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1656T>A (p.Asp552Glu) single nucleotide variant Perlman syndrome [RCV000531710] Chr2:232263437 [GRCh38]
Chr2:233128147 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-238C>T single nucleotide variant not provided [RCV001548377] Chr2:232329575 [GRCh38]
Chr2:233194285 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.484C>A (p.Pro162Thr) single nucleotide variant Perlman syndrome [RCV000531994] Chr2:232087604 [GRCh38]
Chr2:232952314 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.376C>T (p.Pro126Ser) single nucleotide variant Perlman syndrome [RCV000526494] Chr2:232087496 [GRCh38]
Chr2:232952206 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*551_*554dup duplication Perlman syndrome [RCV000292973] Chr2:232337179..232337180 [GRCh38]
Chr2:233201889..233201890 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.-58_-54del deletion Perlman syndrome [RCV000293619] Chr2:232014868..232014872 [GRCh38]
Chr2:232879578..232879582 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*86del deletion Perlman syndrome [RCV000365304] Chr2:232336712 [GRCh38]
Chr2:233201422 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1540C>T (p.Pro514Ser) single nucleotide variant Inborn genetic diseases [RCV003159798]|Perlman syndrome [RCV000532032] Chr2:232263321 [GRCh38]
Chr2:233128031 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1945G>A (p.Gly649Arg) single nucleotide variant Perlman syndrome [RCV000638460] Chr2:232330711 [GRCh38]
Chr2:233195421 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2076T>G (p.Asn692Lys) single nucleotide variant Perlman syndrome [RCV000638463] Chr2:232333905 [GRCh38]
Chr2:233198615 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2588A>G (p.Gln863Arg) single nucleotide variant Perlman syndrome [RCV000638471] Chr2:232336560 [GRCh38]
Chr2:233201270 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1727_1728delinsCA (p.Arg576Pro) indel Perlman syndrome [RCV000638480] Chr2:232300107..232300108 [GRCh38]
Chr2:233164817..233164818 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1483G>A (p.Glu495Lys) single nucleotide variant Inborn genetic diseases [RCV004025514]|Perlman syndrome [RCV000638481]|not provided [RCV001771862] Chr2:232263264 [GRCh38]
Chr2:233127974 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1567G>A (p.Glu523Lys) single nucleotide variant Perlman syndrome [RCV000638495] Chr2:232263348 [GRCh38]
Chr2:233128058 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_152383.5(DIS3L2):c.1769A>G (p.Asn590Ser) single nucleotide variant Inborn genetic diseases [RCV003303012]|Perlman syndrome [RCV000638500] Chr2:232329842 [GRCh38]
Chr2:233194552 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1337G>T (p.Arg446Met) single nucleotide variant Perlman syndrome [RCV000638509] Chr2:232249258 [GRCh38]
Chr2:233113968 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.264+9A>T single nucleotide variant DIS3L2-related disorder [RCV003980239]|Perlman syndrome [RCV000638529] Chr2:232024339 [GRCh38]
Chr2:232889049 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1056A>G (p.Leu352=) single nucleotide variant Perlman syndrome [RCV000638534] Chr2:232163564 [GRCh38]
Chr2:233028274 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1782C>G (p.Ala594=) single nucleotide variant Perlman syndrome [RCV000638535] Chr2:232329855 [GRCh38]
Chr2:233194565 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1935C>A (p.Thr645=) single nucleotide variant Perlman syndrome [RCV001474511] Chr2:232330701 [GRCh38]
Chr2:233195411 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=) single nucleotide variant Perlman syndrome [RCV000638543] Chr2:232329912 [GRCh38]
Chr2:233194622 [GRCh37]
Chr2:2q37.1		 benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.-67G>A single nucleotide variant Perlman syndrome [RCV000385635] Chr2:232014861 [GRCh38]
Chr2:232879571 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1800C>A (p.Ala600=) single nucleotide variant Perlman syndrome [RCV000529071] Chr2:232329873 [GRCh38]
Chr2:233194583 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.*111G>A single nucleotide variant Perlman syndrome [RCV000321238] Chr2:232336741 [GRCh38]
Chr2:233201451 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*208G>A single nucleotide variant Perlman syndrome [RCV000285757] Chr2:232336838 [GRCh38]
Chr2:233201548 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*301G>T single nucleotide variant Perlman syndrome [RCV000337439] Chr2:232336931 [GRCh38]
Chr2:233201641 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*251C>A single nucleotide variant Perlman syndrome [RCV000324375] Chr2:232336881 [GRCh38]
Chr2:233201591 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.4(DIS3L2):c.-229C>T single nucleotide variant Perlman syndrome [RCV000373367] Chr2:231961630 [GRCh38]
Chr2:232826340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.951-8A>G single nucleotide variant Perlman syndrome [RCV000355620] Chr2:232163451 [GRCh38]
Chr2:233028161 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2277T>C (p.Ala759=) single nucleotide variant DIS3L2-related disorder [RCV003962500]|Perlman syndrome [RCV000553786]|not provided [RCV004568799] Chr2:232334487 [GRCh38]
Chr2:233199197 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.*361del deletion Perlman syndrome [RCV000375609] Chr2:232336989 [GRCh38]
Chr2:233201699 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*22dup duplication Perlman syndrome [RCV000326979] Chr2:232336651..232336652 [GRCh38]
Chr2:233201361..233201362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.92C>T (p.Ser31Leu) single nucleotide variant Perlman syndrome [RCV000549087] Chr2:232015553 [GRCh38]
Chr2:232880263 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2192C>A (p.Thr731Asn) single nucleotide variant Perlman syndrome [RCV000551600] Chr2:232334402 [GRCh38]
Chr2:233199112 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2227C>T (p.Arg743Cys) single nucleotide variant Perlman syndrome [RCV000555352]|not provided [RCV003235280] Chr2:232334437 [GRCh38]
Chr2:233199147 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1628G>A (p.Arg543His) single nucleotide variant Perlman syndrome [RCV000638467] Chr2:232263409 [GRCh38]
Chr2:233128119 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2005A>G (p.Met669Val) single nucleotide variant Perlman syndrome [RCV000638470] Chr2:232330771 [GRCh38]
Chr2:233195481 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.172G>C (p.Asp58His) single nucleotide variant Perlman syndrome [RCV000638477] Chr2:232015633 [GRCh38]
Chr2:232880343 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.623C>T (p.Pro208Leu) single nucleotide variant Perlman syndrome [RCV000638479] Chr2:232130640 [GRCh38]
Chr2:232995350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1756A>G (p.Met586Val) single nucleotide variant DIS3L2-related disorder [RCV004731004]|Perlman syndrome [RCV000638482] Chr2:232329829 [GRCh38]
Chr2:233194539 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2608_2610del (p.Lys870del) deletion Perlman syndrome [RCV000638485] Chr2:232336578..232336580 [GRCh38]
Chr2:233201288..233201290 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2428G>A (p.Val810Met) single nucleotide variant Perlman syndrome [RCV000638490] Chr2:232335806 [GRCh38]
Chr2:233200516 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2611GAG[3] (p.Glu874del) microsatellite Perlman syndrome [RCV000638512] Chr2:232336581..232336583 [GRCh38]
Chr2:233201291..233201293 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.502G>T (p.Ala168Ser) single nucleotide variant Perlman syndrome [RCV000638513] Chr2:232087622 [GRCh38]
Chr2:232952332 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1752G>A (p.Glu584=) single nucleotide variant Perlman syndrome [RCV000638519] Chr2:232329825 [GRCh38]
Chr2:233194535 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2079G>T (p.Val693=) single nucleotide variant Perlman syndrome [RCV001471940]|not provided [RCV003432675] Chr2:232333908 [GRCh38]
Chr2:233198618 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1932G>C (p.Leu644=) single nucleotide variant Perlman syndrome [RCV000638530] Chr2:232330698 [GRCh38]
Chr2:233195408 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.414A>G (p.Glu138=) single nucleotide variant Perlman syndrome [RCV000638542] Chr2:232087534 [GRCh38]
Chr2:232952244 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1836G>T (p.Pro612=) single nucleotide variant Perlman syndrome [RCV000638541] Chr2:232329909 [GRCh38]
Chr2:233194619 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) single nucleotide variant Inborn genetic diseases [RCV003159799]|Perlman syndrome [RCV000532706]|not provided [RCV003314611] Chr2:232130679 [GRCh38]
Chr2:232995389 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2496+1G>T single nucleotide variant not provided [RCV000722250] Chr2:232335875 [GRCh38]
Chr2:233200585 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2394+7G>A single nucleotide variant Perlman syndrome [RCV000559247]|not specified [RCV001821534] Chr2:232334742 [GRCh38]
Chr2:233199452 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2235G>A (p.Ala745=) single nucleotide variant Perlman syndrome [RCV000539839] Chr2:232334445 [GRCh38]
Chr2:233199155 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2010+8G>A single nucleotide variant DIS3L2-related disorder [RCV003900160]|Perlman syndrome [RCV000560129] Chr2:232330784 [GRCh38]
Chr2:233195494 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1198G>A (p.Ala400Thr) single nucleotide variant DIS3L2-related disorder [RCV003409789]|Perlman syndrome [RCV000535563] Chr2:232210399 [GRCh38]
Chr2:233075109 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2426A>G (p.Lys809Arg) single nucleotide variant Perlman syndrome [RCV000560724] Chr2:232335804 [GRCh38]
Chr2:233200514 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1278G>A (p.Val426=) single nucleotide variant Perlman syndrome [RCV000540566] Chr2:232238606 [GRCh38]
Chr2:233103316 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2649C>G (p.Ser883Arg) single nucleotide variant Perlman syndrome [RCV000541993] Chr2:232336621 [GRCh38]
Chr2:233201331 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.799_800del (p.Leu267fs) deletion Perlman syndrome [RCV000559063] Chr2:232136568..232136569 [GRCh38]
Chr2:233001278..233001279 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1800C>T (p.Ala600=) single nucleotide variant Perlman syndrome [RCV000541097] Chr2:232329873 [GRCh38]
Chr2:233194583 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2q37.1(chr2:233055165-233763272)x3 copy number gain See cases [RCV000447269] Chr2:233055165..233763272 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 copy number loss See cases [RCV000446723] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1		 likely pathogenic
GRCh37/hg19 2q37.1(chr2:233181492-233325849) copy number gain Abnormal esophagus morphology [RCV000416920] Chr2:233181492..233325849 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_152383.5(DIS3L2):c.351C>T (p.Pro117=) single nucleotide variant DIS3L2-related disorder [RCV003960109]|Perlman syndrome [RCV000458934]|not provided [RCV003437220] Chr2:232030065 [GRCh38]
Chr2:232894775 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.542T>C (p.Ile181Thr) single nucleotide variant Perlman syndrome [RCV000462717] Chr2:232087662 [GRCh38]
Chr2:232952372 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1739+9C>T single nucleotide variant Perlman syndrome [RCV000462834] Chr2:232300128 [GRCh38]
Chr2:233164838 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2605G>A (p.Glu869Lys) single nucleotide variant Perlman syndrome [RCV000462902] Chr2:232336577 [GRCh38]
Chr2:233201287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.211-9del deletion Perlman syndrome [RCV000466611] Chr2:232024268 [GRCh38]
Chr2:232888978 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His) single nucleotide variant Perlman syndrome [RCV000466683]|not provided [RCV001356582] Chr2:232300107 [GRCh38]
Chr2:233164817 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1033T>C (p.Ser345Pro) single nucleotide variant Perlman syndrome [RCV000470266] Chr2:232163541 [GRCh38]
Chr2:233028251 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.305G>C (p.Arg102Pro) single nucleotide variant Perlman syndrome [RCV000473929] Chr2:232030019 [GRCh38]
Chr2:232894729 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.963G>A (p.Lys321=) single nucleotide variant DIS3L2-related disorder [RCV003970353]|Perlman syndrome [RCV000463073] Chr2:232163471 [GRCh38]
Chr2:233028181 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1472A>G (p.Lys491Arg) single nucleotide variant Perlman syndrome [RCV000463135] Chr2:232263253 [GRCh38]
Chr2:233127963 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232130619)_(232130719_?)del deletion Perlman syndrome [RCV000474161] Chr2:232130619..232130719 [GRCh38]
Chr2:232995329..232995429 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2205G>A (p.Gln735=) single nucleotide variant Perlman syndrome [RCV002525712] Chr2:232334415 [GRCh38]
Chr2:233199125 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152383.5(DIS3L2):c.2244C>T (p.Arg748=) single nucleotide variant DIS3L2-related disorder [RCV003960110]|Perlman syndrome [RCV000463167] Chr2:232334454 [GRCh38]
Chr2:233199164 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.2162A>G (p.Tyr721Cys) single nucleotide variant Inborn genetic diseases [RCV004022815]|Perlman syndrome [RCV000467072] Chr2:232334372 [GRCh38]
Chr2:233199082 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=) single nucleotide variant Perlman syndrome [RCV000470713]|not provided [RCV003237878] Chr2:232015569 [GRCh38]
Chr2:232880279 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1695A>T (p.Gly565=) single nucleotide variant Perlman syndrome [RCV000464230] Chr2:232300075 [GRCh38]
Chr2:233164785 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.642C>G (p.Thr214=) single nucleotide variant Perlman syndrome [RCV000466568] Chr2:232130659 [GRCh38]
Chr2:232995369 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2371G>A (p.Val791Met) single nucleotide variant Inborn genetic diseases [RCV002525590]|Perlman syndrome [RCV000474721] Chr2:232334712 [GRCh38]
Chr2:233199422 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2421C>G (p.Phe807Leu) single nucleotide variant Perlman syndrome [RCV000460002] Chr2:232335799 [GRCh38]
Chr2:233200509 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2125G>C (p.Val709Leu) single nucleotide variant Perlman syndrome [RCV000467392] Chr2:232333954 [GRCh38]
Chr2:233198664 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1254G>A (p.Pro418=) single nucleotide variant Perlman syndrome [RCV000471336] Chr2:232238582 [GRCh38]
Chr2:233103292 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.910C>T (p.Arg304Cys) single nucleotide variant Perlman syndrome [RCV000474865] Chr2:232136679 [GRCh38]
Chr2:233001389 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1125-6T>G single nucleotide variant Perlman syndrome [RCV000474953] Chr2:232210320 [GRCh38]
Chr2:233075030 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2010+10G>T single nucleotide variant Perlman syndrome [RCV001459916] Chr2:232330786 [GRCh38]
Chr2:233195496 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.67G>C (p.Ala23Pro) single nucleotide variant Inborn genetic diseases [RCV003243139]|Perlman syndrome [RCV000476664] Chr2:232015528 [GRCh38]
Chr2:232880238 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2551C>T (p.Leu851Phe) single nucleotide variant Perlman syndrome [RCV000456481] Chr2:232336523 [GRCh38]
Chr2:233201233 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1502T>C (p.Ile501Thr) single nucleotide variant Perlman syndrome [RCV000463840] Chr2:232263283 [GRCh38]
Chr2:233127993 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.264+9A>C single nucleotide variant Perlman syndrome [RCV001464852] Chr2:232024339 [GRCh38]
Chr2:232889049 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1797C>T (p.Arg599=) single nucleotide variant DIS3L2-related disorder [RCV003899990]|Perlman syndrome [RCV000471501] Chr2:232329870 [GRCh38]
Chr2:233194580 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2425A>C (p.Lys809Gln) single nucleotide variant Perlman syndrome [RCV000471536] Chr2:232335803 [GRCh38]
Chr2:233200513 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1290G>A (p.Arg430=) single nucleotide variant Perlman syndrome [RCV000475320] Chr2:232238618 [GRCh38]
Chr2:233103328 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2065T>C (p.Tyr689His) single nucleotide variant Perlman syndrome [RCV000456637] Chr2:232333894 [GRCh38]
Chr2:233198604 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1924-3T>C single nucleotide variant Perlman syndrome [RCV000456676] Chr2:232330687 [GRCh38]
Chr2:233195397 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1739+10T>C single nucleotide variant Perlman syndrome [RCV000468073] Chr2:232300129 [GRCh38]
Chr2:233164839 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.210+10A>G single nucleotide variant Perlman syndrome [RCV000460539] Chr2:232015681 [GRCh38]
Chr2:232880391 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1826G>A (p.Arg609Gln) single nucleotide variant Perlman syndrome [RCV000460580]|not provided [RCV000514186] Chr2:232329899 [GRCh38]
Chr2:233194609 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.666A>C (p.Arg222Ser) single nucleotide variant Inborn genetic diseases [RCV003362796]|Perlman syndrome [RCV000460628] Chr2:232130683 [GRCh38]
Chr2:232995393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2592C>T (p.Gly864=) single nucleotide variant Perlman syndrome [RCV000464495]|not provided [RCV003437219] Chr2:232336564 [GRCh38]
Chr2:233201274 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2563G>A (p.Ala855Thr) single nucleotide variant Inborn genetic diseases [RCV004022814]|Perlman syndrome [RCV000468104] Chr2:232336535 [GRCh38]
Chr2:233201245 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1774G>T (p.Ala592Ser) single nucleotide variant Perlman syndrome [RCV000468220] Chr2:232329847 [GRCh38]
Chr2:233194557 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) single nucleotide variant DIS3L2-related disorder [RCV003925374]|Perlman syndrome [RCV000475626]|not provided [RCV004710078] Chr2:232136643 [GRCh38]
Chr2:233001353 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.2154G>A (p.Ala718=) single nucleotide variant Perlman syndrome [RCV000457063]|not provided [RCV003437222] Chr2:232333983 [GRCh38]
Chr2:233198693 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1501A>T (p.Ile501Phe) single nucleotide variant Perlman syndrome [RCV000457076] Chr2:232263282 [GRCh38]
Chr2:233127992 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) single nucleotide variant Inborn genetic diseases [RCV002523345]|Perlman syndrome [RCV000457169]|not provided [RCV003480643]|not specified [RCV001821286] Chr2:232300102 [GRCh38]
Chr2:233164812 [GRCh37]
Chr2:2q37.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.675G>A (p.Ser225=) single nucleotide variant Perlman syndrome [RCV000460925] Chr2:232130692 [GRCh38]
Chr2:232995402 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1693G>A (p.Gly565Arg) single nucleotide variant Inborn genetic diseases [RCV003168835]|Perlman syndrome [RCV000460963] Chr2:232300073 [GRCh38]
Chr2:233164783 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2450C>T (p.Thr817Met) single nucleotide variant Perlman syndrome [RCV000468478] Chr2:232335828 [GRCh38]
Chr2:233200538 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2367C>T (p.Tyr789=) single nucleotide variant Perlman syndrome [RCV000472111]|not provided [RCV003437218] Chr2:232334708 [GRCh38]
Chr2:233199418 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2036T>C (p.Leu679Pro) single nucleotide variant Perlman syndrome [RCV000472196] Chr2:232333865 [GRCh38]
Chr2:233198575 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.210+10_210+17dup duplication Perlman syndrome [RCV000476050] Chr2:232015680..232015681 [GRCh38]
Chr2:232880390..232880391 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.136A>G (p.Lys46Glu) single nucleotide variant Perlman syndrome [RCV001064658]|not provided [RCV000481468] Chr2:232015597 [GRCh38]
Chr2:232880307 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=) single nucleotide variant Perlman syndrome [RCV000457440] Chr2:232210404 [GRCh38]
Chr2:233075114 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NC_000002.11:g.(?_233028169)_(233028342_?)dup duplication Perlman syndrome [RCV000461056] Chr2:232163459..232163632 [GRCh38]
Chr2:233028169..233028342 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1728C>T (p.Arg576=) single nucleotide variant Perlman syndrome [RCV000472480] Chr2:232300108 [GRCh38]
Chr2:233164818 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=) single nucleotide variant DIS3L2-related disorder [RCV003925375]|Perlman syndrome [RCV000476196]|not provided [RCV003431037] Chr2:232087573 [GRCh38]
Chr2:232952283 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile) single nucleotide variant Perlman syndrome [RCV000476298]|not provided [RCV003441881] Chr2:232238628 [GRCh38]
Chr2:233103338 [GRCh37]
Chr2:2q37.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.1023C>T (p.Gly341=) single nucleotide variant Perlman syndrome [RCV000457555]|not provided [RCV003437221] Chr2:232163531 [GRCh38]
Chr2:233028241 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.874C>T (p.Arg292Trp) single nucleotide variant Perlman syndrome [RCV000457594] Chr2:232136643 [GRCh38]
Chr2:233001353 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.102C>T (p.Asp34=) single nucleotide variant Perlman syndrome [RCV000457711] Chr2:232015563 [GRCh38]
Chr2:232880273 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-1G>C single nucleotide variant Perlman syndrome [RCV000461422] Chr2:232333839 [GRCh38]
Chr2:233198549 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1923+3G>A single nucleotide variant Perlman syndrome [RCV000468807] Chr2:232329999 [GRCh38]
Chr2:233194709 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.953A>G (p.Gln318Arg) single nucleotide variant Perlman syndrome [RCV000476334] Chr2:232163461 [GRCh38]
Chr2:233028171 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2242C>T (p.Arg748Cys) single nucleotide variant Perlman syndrome [RCV000476458] Chr2:232334452 [GRCh38]
Chr2:233199162 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1876G>A (p.Asp626Asn) single nucleotide variant Inborn genetic diseases [RCV004022813]|Perlman syndrome [RCV000476550] Chr2:232329949 [GRCh38]
Chr2:233194659 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2179A>G (p.Met727Val) single nucleotide variant Perlman syndrome [RCV000457771] Chr2:232334389 [GRCh38]
Chr2:233199099 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=) single nucleotide variant Perlman syndrome [RCV000461688] Chr2:232329909 [GRCh38]
Chr2:233194619 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.2031G>A (p.Ser677=) single nucleotide variant DIS3L2-related disorder [RCV004751540]|Perlman syndrome [RCV000469109] Chr2:232333860 [GRCh38]
Chr2:233198570 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2503A>G (p.Thr835Ala) single nucleotide variant Perlman syndrome [RCV000472860] Chr2:232336475 [GRCh38]
Chr2:233201185 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) single nucleotide variant DIS3L2-related disorder [RCV003932758]|Perlman syndrome [RCV000469292] Chr2:232136647 [GRCh38]
Chr2:233001357 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1378G>A (p.Asp460Asn) single nucleotide variant Perlman syndrome [RCV000469345] Chr2:232249299 [GRCh38]
Chr2:233114009 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys) single nucleotide variant Perlman syndrome [RCV000469388]|not provided [RCV004708920] Chr2:232263351 [GRCh38]
Chr2:233128061 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1600G>A (p.Gly534Arg) single nucleotide variant Inborn genetic diseases [RCV004609390]|Perlman syndrome [RCV000476929] Chr2:232263381 [GRCh38]
Chr2:233128091 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1429C>T (p.Leu477Phe) single nucleotide variant Perlman syndrome [RCV000462052] Chr2:232263210 [GRCh38]
Chr2:233127920 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1401C>G (p.Ile467Met) single nucleotide variant Perlman syndrome [RCV000462192] Chr2:232249322 [GRCh38]
Chr2:233114032 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2208G>A (p.Ala736=) single nucleotide variant Perlman syndrome [RCV000465971] Chr2:232334418 [GRCh38]
Chr2:233199128 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2000G>A (p.Arg667Gln) single nucleotide variant Perlman syndrome [RCV000466002] Chr2:232330766 [GRCh38]
Chr2:233195476 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2183C>T (p.Ala728Val) single nucleotide variant Perlman syndrome [RCV000469588] Chr2:232334393 [GRCh38]
Chr2:233199103 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1935C>T (p.Thr645=) single nucleotide variant Perlman syndrome [RCV001503134] Chr2:232330701 [GRCh38]
Chr2:233195411 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.566G>T (p.Gly189Val) single nucleotide variant Perlman syndrome [RCV000462421]|not provided [RCV004696239] Chr2:232087686 [GRCh38]
Chr2:232952396 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2163T>C (p.Tyr721=) single nucleotide variant Perlman syndrome [RCV000466078] Chr2:232334373 [GRCh38]
Chr2:233199083 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2408G>A (p.Arg803Gln) single nucleotide variant Perlman syndrome [RCV000466192] Chr2:232335786 [GRCh38]
Chr2:233200496 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1019A>G (p.Tyr340Cys) single nucleotide variant Inborn genetic diseases [RCV002525589]|Perlman syndrome [RCV000469742] Chr2:232163527 [GRCh38]
Chr2:233028237 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_152383.5(DIS3L2):c.2409G>T (p.Arg803=) single nucleotide variant Perlman syndrome [RCV000469862]|not provided [RCV001770366] Chr2:232335787 [GRCh38]
Chr2:233200497 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2204A>G (p.Gln735Arg) single nucleotide variant Perlman syndrome [RCV000462558] Chr2:232334414 [GRCh38]
Chr2:233199124 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1994G>A (p.Cys665Tyr) single nucleotide variant Perlman syndrome [RCV000466253] Chr2:232330760 [GRCh38]
Chr2:233195470 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs) microsatellite Nephroblastoma [RCV000505630] Chr2:232334720..232334721 [GRCh38]
Chr2:233199430..233199431 [GRCh37]
Chr2:2q37.1		 likely pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152383.5(DIS3L2):c.738A>G (p.Ala246=) single nucleotide variant Perlman syndrome [RCV000551212] Chr2:232136507 [GRCh38]
Chr2:233001217 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.43A>G (p.Thr15Ala) single nucleotide variant Perlman syndrome [RCV000698363] Chr2:232014970 [GRCh38]
Chr2:232879680 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1398G>C (p.Val466=) single nucleotide variant Perlman syndrome [RCV000555847] Chr2:232249319 [GRCh38]
Chr2:233114029 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.408G>A (p.Ala136=) single nucleotide variant Perlman syndrome [RCV000555939] Chr2:232087528 [GRCh38]
Chr2:232952238 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.64G>C (p.Val22Leu) single nucleotide variant Inborn genetic diseases [RCV002527772]|Perlman syndrome [RCV000556592] Chr2:232015525 [GRCh38]
Chr2:232880235 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1721A>C (p.Glu574Ala) single nucleotide variant Perlman syndrome [RCV000549635] Chr2:232300101 [GRCh38]
Chr2:233164811 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2030C>T (p.Ser677Leu) single nucleotide variant Perlman syndrome [RCV000557082] Chr2:232333859 [GRCh38]
Chr2:233198569 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2181G>A (p.Met727Ile) single nucleotide variant Perlman syndrome [RCV000534594] Chr2:232334391 [GRCh38]
Chr2:233199101 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.405T>C (p.Ala135=) single nucleotide variant Perlman syndrome [RCV000538932] Chr2:232087525 [GRCh38]
Chr2:232952235 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1909G>A (p.Ala637Thr) single nucleotide variant Perlman syndrome [RCV000638461] Chr2:232329982 [GRCh38]
Chr2:233194692 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.222A>C (p.Arg74Ser) single nucleotide variant Perlman syndrome [RCV000638486] Chr2:232024288 [GRCh38]
Chr2:232888998 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.128G>A (p.Arg43Gln) single nucleotide variant Perlman syndrome [RCV000638492] Chr2:232015589 [GRCh38]
Chr2:232880299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.938A>G (p.Asn313Ser) single nucleotide variant Perlman syndrome [RCV000638493] Chr2:232136707 [GRCh38]
Chr2:233001417 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1609A>G (p.Lys537Glu) single nucleotide variant Perlman syndrome [RCV000638496] Chr2:232263390 [GRCh38]
Chr2:233128100 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2269T>C (p.Phe757Leu) single nucleotide variant Perlman syndrome [RCV000638497] Chr2:232334479 [GRCh38]
Chr2:233199189 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2576G>C (p.Arg859Pro) single nucleotide variant Inborn genetic diseases [RCV004025515]|Perlman syndrome [RCV000638501] Chr2:232336548 [GRCh38]
Chr2:233201258 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2059C>T (p.Arg687Trp) single nucleotide variant Inborn genetic diseases [RCV002529880]|Perlman syndrome [RCV000638502]|not provided [RCV004691990] Chr2:232333888 [GRCh38]
Chr2:233198598 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.540C>T (p.Gly180=) single nucleotide variant Perlman syndrome [RCV000638504]|not provided [RCV001310779] Chr2:232087660 [GRCh38]
Chr2:232952370 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2401G>A (p.Ala801Thr) single nucleotide variant Perlman syndrome [RCV000638508] Chr2:232335779 [GRCh38]
Chr2:233200489 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1544C>T (p.Pro515Leu) single nucleotide variant Perlman syndrome [RCV000638514] Chr2:232263325 [GRCh38]
Chr2:233128035 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-7T>C single nucleotide variant DIS3L2-related disorder [RCV003965346]|Perlman syndrome [RCV000638520] Chr2:232334362 [GRCh38]
Chr2:233199072 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.781C>T (p.Leu261=) single nucleotide variant Perlman syndrome [RCV000638537] Chr2:232136550 [GRCh38]
Chr2:233001260 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-9G>A single nucleotide variant Perlman syndrome [RCV000638539] Chr2:232333831 [GRCh38]
Chr2:233198541 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2356G>A (p.Val786Met) single nucleotide variant Perlman syndrome [RCV000638465] Chr2:232334697 [GRCh38]
Chr2:233199407 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1525C>T (p.Pro509Ser) single nucleotide variant Perlman syndrome [RCV000638475] Chr2:232263306 [GRCh38]
Chr2:233128016 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2485C>T (p.Pro829Ser) single nucleotide variant Perlman syndrome [RCV000638483] Chr2:232335863 [GRCh38]
Chr2:233200573 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1684C>T (p.His562Tyr) single nucleotide variant Perlman syndrome [RCV000638487] Chr2:232300064 [GRCh38]
Chr2:233164774 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.469A>G (p.Ser157Gly) single nucleotide variant Perlman syndrome [RCV000638491] Chr2:232087589 [GRCh38]
Chr2:232952299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1188C>T (p.Cys396=) single nucleotide variant Perlman syndrome [RCV000638494] Chr2:232210389 [GRCh38]
Chr2:233075099 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2068G>A (p.Ala690Thr) single nucleotide variant Inborn genetic diseases [RCV002529881]|Perlman syndrome [RCV000638507] Chr2:232333897 [GRCh38]
Chr2:233198607 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1804C>G (p.Pro602Ala) single nucleotide variant Perlman syndrome [RCV000638510] Chr2:232329877 [GRCh38]
Chr2:233194587 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2349C>T (p.Asp783=) single nucleotide variant Perlman syndrome [RCV000638518] Chr2:232334690 [GRCh38]
Chr2:233199400 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1317+7A>G single nucleotide variant Perlman syndrome [RCV000638544] Chr2:232238652 [GRCh38]
Chr2:233103362 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1385T>C (p.Leu462Pro) single nucleotide variant Perlman syndrome [RCV000539254] Chr2:232249306 [GRCh38]
Chr2:233114016 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1236C>T (p.Asp412=) single nucleotide variant Perlman syndrome [RCV000535225] Chr2:232238564 [GRCh38]
Chr2:233103274 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+9C>T single nucleotide variant Perlman syndrome [RCV000535850] Chr2:232334744 [GRCh38]
Chr2:233199454 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1205-3C>T single nucleotide variant Perlman syndrome [RCV000559016] Chr2:232238530 [GRCh38]
Chr2:233103240 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1115G>C (p.Arg372Thr) single nucleotide variant Perlman syndrome [RCV000559396] Chr2:232163623 [GRCh38]
Chr2:233028333 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1833C>A (p.Pro611=) single nucleotide variant Perlman syndrome [RCV000540743] Chr2:232329906 [GRCh38]
Chr2:233194616 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.919G>C (p.Asp307His) single nucleotide variant Inborn genetic diseases [RCV002528352]|Perlman syndrome [RCV000541145] Chr2:232136688 [GRCh38]
Chr2:233001398 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1712A>T (p.His571Leu) single nucleotide variant Perlman syndrome [RCV000537575] Chr2:232300092 [GRCh38]
Chr2:233164802 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1703A>G (p.Gln568Arg) single nucleotide variant Inborn genetic diseases [RCV004023898]|Perlman syndrome [RCV000556846] Chr2:232300083 [GRCh38]
Chr2:233164793 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2407C>T (p.Arg803Trp) single nucleotide variant Perlman syndrome [RCV000638468] Chr2:232335785 [GRCh38]
Chr2:233200495 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.491_514del (p.Val164_Asp171del) deletion Perlman syndrome [RCV000638484] Chr2:232087606..232087629 [GRCh38]
Chr2:232952316..232952339 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2591G>A (p.Gly864Asp) single nucleotide variant Perlman syndrome [RCV000638488] Chr2:232336563 [GRCh38]
Chr2:233201273 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2194C>G (p.Leu732Val) single nucleotide variant Perlman syndrome [RCV000638489] Chr2:232334404 [GRCh38]
Chr2:233199114 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2585C>T (p.Thr862Ile) single nucleotide variant Perlman syndrome [RCV000638499]|not provided [RCV001358589] Chr2:232336557 [GRCh38]
Chr2:233201267 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1915G>A (p.Ala639Thr) single nucleotide variant Perlman syndrome [RCV000638506] Chr2:232329988 [GRCh38]
Chr2:233194698 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.210G>C (p.Gln70His) single nucleotide variant Perlman syndrome [RCV000638515] Chr2:232015671 [GRCh38]
Chr2:232880381 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.703-9T>C single nucleotide variant Perlman syndrome [RCV000638517] Chr2:232136463 [GRCh38]
Chr2:233001173 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1131C>T (p.Asp377=) single nucleotide variant Perlman syndrome [RCV000638521] Chr2:232210332 [GRCh38]
Chr2:233075042 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1707A>G (p.Gly569=) single nucleotide variant Perlman syndrome [RCV000638522] Chr2:232300087 [GRCh38]
Chr2:233164797 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2040G>T (p.Leu680=) single nucleotide variant Perlman syndrome [RCV000638524] Chr2:232333869 [GRCh38]
Chr2:233198579 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.237G>A (p.Lys79=) single nucleotide variant Perlman syndrome [RCV000638527] Chr2:232024303 [GRCh38]
Chr2:232889013 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1124+8C>T single nucleotide variant Perlman syndrome [RCV000638528] Chr2:232163640 [GRCh38]
Chr2:233028350 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.981T>C (p.Gly327=) single nucleotide variant Perlman syndrome [RCV000638531] Chr2:232163489 [GRCh38]
Chr2:233028199 [GRCh37]
Chr2:2q37.1		 likely benign
NC_000002.11:g.(?_233194517)_(233198703_?)dup duplication Perlman syndrome [RCV000638545] Chr2:232329807..232333993 [GRCh38]
Chr2:233194517..233198703 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1954A>G (p.Lys652Glu) single nucleotide variant Perlman syndrome [RCV000638464] Chr2:232330720 [GRCh38]
Chr2:233195430 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1390T>C (p.Phe464Leu) single nucleotide variant Perlman syndrome [RCV000638466] Chr2:232249311 [GRCh38]
Chr2:233114021 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.419A>G (p.Asp140Gly) single nucleotide variant Perlman syndrome [RCV000638469] Chr2:232087539 [GRCh38]
Chr2:232952249 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.965G>T (p.Ser322Ile) single nucleotide variant Perlman syndrome [RCV000638474] Chr2:232163473 [GRCh38]
Chr2:233028183 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.639G>T (p.Glu213Asp) single nucleotide variant Perlman syndrome [RCV000638498] Chr2:232130656 [GRCh38]
Chr2:232995366 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1649G>A (p.Arg550His) single nucleotide variant Perlman syndrome [RCV000638503] Chr2:232263430 [GRCh38]
Chr2:233128140 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1721A>G (p.Glu574Gly) single nucleotide variant Perlman syndrome [RCV000638511] Chr2:232300101 [GRCh38]
Chr2:233164811 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2212C>G (p.His738Asp) single nucleotide variant Perlman syndrome [RCV000638516] Chr2:232334422 [GRCh38]
Chr2:233199132 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1584C>T (p.Ala528=) single nucleotide variant Perlman syndrome [RCV000638526] Chr2:232263365 [GRCh38]
Chr2:233128075 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-8C>G single nucleotide variant Perlman syndrome [RCV000638532] Chr2:232300032 [GRCh38]
Chr2:233164742 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-4G>T single nucleotide variant Perlman syndrome [RCV000536723] Chr2:232333836 [GRCh38]
Chr2:233198546 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.558G>C (p.Leu186=) single nucleotide variant Perlman syndrome [RCV000540446]|not provided [RCV003886409] Chr2:232087678 [GRCh38]
Chr2:232952388 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2070G>A (p.Ala690=) single nucleotide variant DIS3L2-related disorder [RCV003942781]|Perlman syndrome [RCV000537640] Chr2:232333899 [GRCh38]
Chr2:233198609 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.565G>A (p.Gly189Ser) single nucleotide variant Perlman syndrome [RCV000533489] Chr2:232087685 [GRCh38]
Chr2:232952395 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1737C>T (p.Asn579=) single nucleotide variant Perlman syndrome [RCV000533828] Chr2:232300117 [GRCh38]
Chr2:233164827 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2210A>G (p.Asp737Gly) single nucleotide variant Perlman syndrome [RCV000538334]|not provided [RCV002281107] Chr2:232334420 [GRCh38]
Chr2:233199130 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.723A>G (p.Lys241=) single nucleotide variant Perlman syndrome [RCV000534181] Chr2:232136492 [GRCh38]
Chr2:233001202 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1618C>T (p.Arg540Cys) single nucleotide variant Perlman syndrome [RCV000557214] Chr2:232263399 [GRCh38]
Chr2:233128109 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.685C>G (p.Leu229Val) single nucleotide variant DIS3L2-related disorder [RCV004751587]|Perlman syndrome [RCV000557572]|not provided [RCV004691867] Chr2:232130702 [GRCh38]
Chr2:232995412 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.79G>C (p.Asp27His) single nucleotide variant Inborn genetic diseases [RCV002528351]|Perlman syndrome [RCV000535106] Chr2:232015540 [GRCh38]
Chr2:232880250 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1726C>T (p.Arg576Cys) single nucleotide variant DIS3L2-related disorder [RCV003419946]|Perlman syndrome [RCV000557630] Chr2:232300106 [GRCh38]
Chr2:233164816 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2608A>G (p.Lys870Glu) single nucleotide variant Inborn genetic diseases [RCV002527771]|Perlman syndrome [RCV000535948]|not provided [RCV004691866]|not specified [RCV003151091] Chr2:232336580 [GRCh38]
Chr2:233201290 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233198544)_(233201346_?)dup duplication Perlman syndrome [RCV000558547] Chr2:232333834..232336636 [GRCh38]
Chr2:233198544..233201346 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1775C>T (p.Ala592Val) single nucleotide variant Perlman syndrome [RCV000540299] Chr2:232329848 [GRCh38]
Chr2:233194558 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.141G>T (p.Lys47Asn) single nucleotide variant DIS3L2-related disorder [RCV003403468]|Perlman syndrome [RCV000638462] Chr2:232015602 [GRCh38]
Chr2:232880312 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2136C>A (p.His712Gln) single nucleotide variant Perlman syndrome [RCV000638472] Chr2:232333965 [GRCh38]
Chr2:233198675 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.871G>A (p.Ala291Thr) single nucleotide variant Perlman syndrome [RCV000638473] Chr2:232136640 [GRCh38]
Chr2:233001350 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_152383.5(DIS3L2):c.2356G>T (p.Val786Leu) single nucleotide variant Inborn genetic diseases [RCV002528903]|Perlman syndrome [RCV000638476] Chr2:232334697 [GRCh38]
Chr2:233199407 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1675A>C (p.Thr559Pro) single nucleotide variant Perlman syndrome [RCV000638478] Chr2:232300055 [GRCh38]
Chr2:233164765 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1258G>A (p.Gly420Arg) single nucleotide variant Perlman syndrome [RCV000638505] Chr2:232238586 [GRCh38]
Chr2:233103296 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1686C>T (p.His562=) single nucleotide variant DIS3L2-related disorder [RCV003953135]|Perlman syndrome [RCV000638525]|not provided [RCV003884682] Chr2:232300066 [GRCh38]
Chr2:233164776 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-10T>C single nucleotide variant Perlman syndrome [RCV000638533] Chr2:232210316 [GRCh38]
Chr2:233075026 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2073C>T (p.Leu691=) single nucleotide variant Perlman syndrome [RCV000638540] Chr2:232333902 [GRCh38]
Chr2:233198612 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2404C>T (p.Leu802=) single nucleotide variant Perlman syndrome [RCV000638538] Chr2:232335782 [GRCh38]
Chr2:233200492 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+10C>T single nucleotide variant Perlman syndrome [RCV000535011] Chr2:232335884 [GRCh38]
Chr2:233200594 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.33_34delinsAA (p.Pro12Thr) indel Perlman syndrome [RCV000700773]|not provided [RCV000722521] Chr2:232014960..232014961 [GRCh38]
Chr2:232879670..232879671 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1406C>T (p.Thr469Ile) single nucleotide variant Perlman syndrome [RCV000686505] Chr2:232249327 [GRCh38]
Chr2:233114037 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2381G>A (p.Arg794His) single nucleotide variant Perlman syndrome [RCV000686748] Chr2:232334722 [GRCh38]
Chr2:233199432 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1659+5_1659+7del deletion Perlman syndrome [RCV000699008] Chr2:232263444..232263446 [GRCh38]
Chr2:233128154..233128156 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1418A>G (p.Glu473Gly) single nucleotide variant Perlman syndrome [RCV000685868] Chr2:232249339 [GRCh38]
Chr2:233114049 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.815A>G (p.Asp272Gly) single nucleotide variant Perlman syndrome [RCV001231076] Chr2:232136584 [GRCh38]
Chr2:233001294 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_152383.5(DIS3L2):c.2171G>A (p.Arg724Gln) single nucleotide variant Inborn genetic diseases [RCV004026480]|Perlman syndrome [RCV000699693] Chr2:232334381 [GRCh38]
Chr2:233199091 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.53del (p.Gly18fs) deletion Perlman syndrome [RCV001808227] Chr2:232015513 [GRCh38]
Chr2:232880223 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2638G>A (p.Glu880Lys) single nucleotide variant Perlman syndrome [RCV000701795] Chr2:232336610 [GRCh38]
Chr2:233201320 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2504C>G (p.Thr835Ser) single nucleotide variant Perlman syndrome [RCV000687702] Chr2:232336476 [GRCh38]
Chr2:233201186 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2234C>T (p.Ala745Val) single nucleotide variant Perlman syndrome [RCV000688099] Chr2:232334444 [GRCh38]
Chr2:233199154 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2137C>T (p.Arg713Cys) single nucleotide variant DIS3L2-related disorder [RCV003420252]|Perlman syndrome [RCV000702434] Chr2:232333966 [GRCh38]
Chr2:233198676 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.777C>A (p.Ser259Arg) single nucleotide variant Perlman syndrome [RCV000698143] Chr2:232136546 [GRCh38]
Chr2:233001256 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1084A>G (p.Thr362Ala) single nucleotide variant Perlman syndrome [RCV000686828] Chr2:232163592 [GRCh38]
Chr2:233028302 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2229C>T (p.Arg743=) single nucleotide variant DIS3L2-related disorder [RCV003918141]|Perlman syndrome [RCV000706757] Chr2:232334439 [GRCh38]
Chr2:233199149 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NC_000002.11:g.(?_233028149)_(233028362_?)dup duplication Perlman syndrome [RCV000708488] Chr2:232163439..232163652 [GRCh38]
Chr2:233028149..233028362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.407C>T (p.Ala136Val) single nucleotide variant Perlman syndrome [RCV000694684] Chr2:232087527 [GRCh38]
Chr2:232952237 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1641C>T (p.Gly547=) single nucleotide variant Perlman syndrome [RCV000690072] Chr2:232263422 [GRCh38]
Chr2:233128132 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2051C>T (p.Ala684Val) single nucleotide variant Perlman syndrome [RCV000690079] Chr2:232333880 [GRCh38]
Chr2:233198590 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.371T>C (p.Val124Ala) single nucleotide variant Perlman syndrome [RCV000687383] Chr2:232087491 [GRCh38]
Chr2:232952201 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.31C>T (p.Arg11Trp) single nucleotide variant Perlman syndrome [RCV000707165] Chr2:232014958 [GRCh38]
Chr2:232879668 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1564A>G (p.Ser522Gly) single nucleotide variant Perlman syndrome [RCV000687679]|not provided [RCV001354878] Chr2:232263345 [GRCh38]
Chr2:233128055 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1862T>C (p.Leu621Pro) single nucleotide variant Perlman syndrome [RCV000687743]|not provided [RCV003225112] Chr2:232329935 [GRCh38]
Chr2:233194645 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1627C>T (p.Arg543Cys) single nucleotide variant Perlman syndrome [RCV000693358] Chr2:232263408 [GRCh38]
Chr2:233128118 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2417_2418del (p.His806fs) deletion Perlman syndrome [RCV000687958] Chr2:232335794..232335795 [GRCh38]
Chr2:233200504..233200505 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1135A>G (p.Ile379Val) single nucleotide variant Perlman syndrome [RCV000688003] Chr2:232210336 [GRCh38]
Chr2:233075046 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.742A>G (p.Thr248Ala) single nucleotide variant Perlman syndrome [RCV000705003] Chr2:232136511 [GRCh38]
Chr2:233001221 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2629G>C (p.Gly877Arg) single nucleotide variant Inborn genetic diseases [RCV002532244]|Perlman syndrome [RCV000693801] Chr2:232336601 [GRCh38]
Chr2:233201311 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.485C>T (p.Pro162Leu) single nucleotide variant Perlman syndrome [RCV000688194] Chr2:232087605 [GRCh38]
Chr2:232952315 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2254C>T (p.Leu752Phe) single nucleotide variant Perlman syndrome [RCV000702560] Chr2:232334464 [GRCh38]
Chr2:233199174 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233028159)_(233028352_?)dup duplication Perlman syndrome [RCV000707785] Chr2:232163449..232163642 [GRCh38]
Chr2:233028159..233028352 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.763G>A (p.Ala255Thr) single nucleotide variant Perlman syndrome [RCV000705385] Chr2:232136532 [GRCh38]
Chr2:233001242 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter) single nucleotide variant DIS3L2-related disorder [RCV004751671]|Perlman syndrome [RCV000705784] Chr2:232136502 [GRCh38]
Chr2:233001212 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.695C>T (p.Ser232Leu) single nucleotide variant Inborn genetic diseases [RCV004609501]|Perlman syndrome [RCV000699263]|not provided [RCV003317347] Chr2:232130712 [GRCh38]
Chr2:232995422 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2020T>C (p.Tyr674His) single nucleotide variant Perlman syndrome [RCV000694343] Chr2:232333849 [GRCh38]
Chr2:233198559 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.690A>G (p.Gln230=) single nucleotide variant Perlman syndrome [RCV000699889] Chr2:232130707 [GRCh38]
Chr2:232995417 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2013G>A (p.Met671Ile) single nucleotide variant DIS3L2-related disorder [RCV004751664]|Perlman syndrome [RCV000689354] Chr2:232333842 [GRCh38]
Chr2:233198552 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2590G>A (p.Gly864Ser) single nucleotide variant Perlman syndrome [RCV000692178] Chr2:232336562 [GRCh38]
Chr2:233201272 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1913G>A (p.Gly638Glu) single nucleotide variant Perlman syndrome [RCV000700305] Chr2:232329986 [GRCh38]
Chr2:233194696 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1126A>G (p.Lys376Glu) single nucleotide variant Perlman syndrome [RCV000692400] Chr2:232210327 [GRCh38]
Chr2:233075037 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.607G>C (p.Glu203Gln) single nucleotide variant Perlman syndrome [RCV000686625] Chr2:232130624 [GRCh38]
Chr2:232995334 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2078T>C (p.Val693Ala) single nucleotide variant Perlman syndrome [RCV000689798] Chr2:232333907 [GRCh38]
Chr2:233198617 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1566C>T (p.Ser522=) single nucleotide variant Perlman syndrome [RCV000692535] Chr2:232263347 [GRCh38]
Chr2:233128057 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1807G>A (p.Glu603Lys) single nucleotide variant Perlman syndrome [RCV000698625]|not provided [RCV004692156] Chr2:232329880 [GRCh38]
Chr2:233194590 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.566G>C (p.Gly189Ala) single nucleotide variant Perlman syndrome [RCV000689732] Chr2:232087686 [GRCh38]
Chr2:232952396 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1729G>A (p.Glu577Lys) single nucleotide variant Perlman syndrome [RCV000689758] Chr2:232300109 [GRCh38]
Chr2:233164819 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1399A>T (p.Ile467Phe) single nucleotide variant Perlman syndrome [RCV000692560] Chr2:232249320 [GRCh38]
Chr2:233114030 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1855A>G (p.Ser619Gly) single nucleotide variant Perlman syndrome [RCV000697419] Chr2:232329928 [GRCh38]
Chr2:233194638 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.524C>T (p.Ser175Leu) single nucleotide variant Perlman syndrome [RCV000697408] Chr2:232087644 [GRCh38]
Chr2:232952354 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.587G>A (p.Cys196Tyr) single nucleotide variant Perlman syndrome [RCV000694895] Chr2:232087707 [GRCh38]
Chr2:232952417 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.905T>A (p.Ile302Asn) single nucleotide variant Perlman syndrome [RCV000689927] Chr2:232136674 [GRCh38]
Chr2:233001384 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2167G>A (p.Glu723Lys) single nucleotide variant Perlman syndrome [RCV000689997] Chr2:232334377 [GRCh38]
Chr2:233199087 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1507A>T (p.Ser503Cys) single nucleotide variant Perlman syndrome [RCV000704440] Chr2:232263288 [GRCh38]
Chr2:233127998 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.305G>A (p.Arg102His) single nucleotide variant Perlman syndrome [RCV000707085] Chr2:232030019 [GRCh38]
Chr2:232894729 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2368G>A (p.Gly790Ser) single nucleotide variant Perlman syndrome [RCV000693142] Chr2:232334709 [GRCh38]
Chr2:233199419 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.623C>A (p.Pro208Gln) single nucleotide variant Perlman syndrome [RCV000704524] Chr2:232130640 [GRCh38]
Chr2:232995350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2363G>A (p.Arg788His) single nucleotide variant Perlman syndrome [RCV000690411] Chr2:232334704 [GRCh38]
Chr2:233199414 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.164C>A (p.Ser55Tyr) single nucleotide variant Perlman syndrome [RCV000707677] Chr2:232015625 [GRCh38]
Chr2:232880335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2266C>G (p.Leu756Val) single nucleotide variant Perlman syndrome [RCV000695765] Chr2:232334476 [GRCh38]
Chr2:233199186 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.964A>G (p.Ser322Gly) single nucleotide variant Perlman syndrome [RCV000688691] Chr2:232163472 [GRCh38]
Chr2:233028182 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1597C>A (p.His533Asn) single nucleotide variant Perlman syndrome [RCV000691085] Chr2:232263378 [GRCh38]
Chr2:233128088 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NC_000002.11:g.(?_233028159)_(233201350_?)dup duplication Perlman syndrome [RCV000708026] Chr2:232163449..232336640 [GRCh38]
Chr2:233028159..233201350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2152G>A (p.Ala718Thr) single nucleotide variant Perlman syndrome [RCV000694106] Chr2:232333981 [GRCh38]
Chr2:233198691 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.327T>A (p.Asp109Glu) single nucleotide variant Perlman syndrome [RCV000696392] Chr2:232030041 [GRCh38]
Chr2:232894751 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1529C>G (p.Ala510Gly) single nucleotide variant Perlman syndrome [RCV000696422] Chr2:232263310 [GRCh38]
Chr2:233128020 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1192C>T (p.Pro398Ser) single nucleotide variant Perlman syndrome [RCV000691456] Chr2:232210393 [GRCh38]
Chr2:233075103 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2611GAG[5] (p.Glu874dup) microsatellite Perlman syndrome [RCV000696710] Chr2:232336580..232336581 [GRCh38]
Chr2:233201290..233201291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.594T>A (p.Ser198=) single nucleotide variant Perlman syndrome [RCV000685700] Chr2:232087714 [GRCh38]
Chr2:232952424 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1989C>A (p.Asn663Lys) single nucleotide variant Perlman syndrome [RCV000705879] Chr2:232330755 [GRCh38]
Chr2:233195465 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232136462)_(232136729_?)del deletion Perlman syndrome [RCV000708344] Chr2:232136462..232136729 [GRCh38]
Chr2:233001172..233001439 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.928G>A (p.Glu310Lys) single nucleotide variant Perlman syndrome [RCV000700761] Chr2:232136697 [GRCh38]
Chr2:233001407 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2593C>T (p.His865Tyr) single nucleotide variant Perlman syndrome [RCV000705888] Chr2:232336565 [GRCh38]
Chr2:233201275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.461C>T (p.Ser154Phe) single nucleotide variant Perlman syndrome [RCV000696906] Chr2:232087581 [GRCh38]
Chr2:232952291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1748A>G (p.Glu583Gly) single nucleotide variant Perlman syndrome [RCV000701146] Chr2:232329821 [GRCh38]
Chr2:233194531 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1163G>A (p.Arg388Gln) single nucleotide variant DIS3L2-related disorder [RCV003411637]|Inborn genetic diseases [RCV002536372]|Perlman syndrome [RCV000703500] Chr2:232210364 [GRCh38]
Chr2:233075074 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1426-179G>T single nucleotide variant not provided [RCV001546608] Chr2:232263028 [GRCh38]
Chr2:233127738 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+260G>T single nucleotide variant not provided [RCV001546436] Chr2:232334995 [GRCh38]
Chr2:233199705 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.1(chr2:232550626-233171039)x1 copy number loss not provided [RCV000740949] Chr2:232550626..233171039 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:233184683-233303133)x3 copy number gain not provided [RCV000740950] Chr2:233184683..233303133 [GRCh37]
Chr2:2q37.1		 benign
GRCh37/hg19 2q37.1(chr2:233201328-233310149)x1 copy number loss not provided [RCV000740951] Chr2:233201328..233310149 [GRCh37]
Chr2:2q37.1		 benign
GRCh37/hg19 2q37.1(chr2:233201328-233315308)x3 copy number gain not provided [RCV000740952] Chr2:233201328..233315308 [GRCh37]
Chr2:2q37.1		 benign
GRCh37/hg19 2q37.1(chr2:233204359-233310149)x3 copy number gain not provided [RCV000740953] Chr2:233204359..233310149 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2416C>A (p.His806Asn) single nucleotide variant Perlman syndrome [RCV001907797] Chr2:232335794 [GRCh38]
Chr2:233200504 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.360T>C (p.His120=) single nucleotide variant Perlman syndrome [RCV000871985]|not specified [RCV001817013] Chr2:232030074 [GRCh38]
Chr2:232894784 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1530G>A (p.Ala510=) single nucleotide variant Perlman syndrome [RCV000873290] Chr2:232263311 [GRCh38]
Chr2:233128021 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1426-195A>T single nucleotide variant not provided [RCV001679630] Chr2:232263012 [GRCh38]
Chr2:233127722 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2496+5G>T single nucleotide variant Perlman syndrome [RCV001065874] Chr2:232335879 [GRCh38]
Chr2:233200589 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-11A>C single nucleotide variant not provided [RCV001565241] Chr2:232329802 [GRCh38]
Chr2:233194512 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1952A>G (p.Asp651Gly) single nucleotide variant Perlman syndrome [RCV001044323] Chr2:232330718 [GRCh38]
Chr2:233195428 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.17A>G (p.Tyr6Cys) single nucleotide variant Perlman syndrome [RCV001067427] Chr2:232014944 [GRCh38]
Chr2:232879654 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1282G>T (p.Ala428Ser) single nucleotide variant Perlman syndrome [RCV001044792] Chr2:232238610 [GRCh38]
Chr2:233103320 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.703-63C>T single nucleotide variant not provided [RCV001680619] Chr2:232136409 [GRCh38]
Chr2:233001119 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1432G>A (p.Asp478Asn) single nucleotide variant Perlman syndrome [RCV001045696] Chr2:232263213 [GRCh38]
Chr2:233127923 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1541C>G (p.Pro514Arg) single nucleotide variant Perlman syndrome [RCV001067070] Chr2:232263322 [GRCh38]
Chr2:233128032 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2496+265A>G single nucleotide variant not provided [RCV001692858] Chr2:232336139 [GRCh38]
Chr2:233200849 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.933C>T (p.Asp311=) single nucleotide variant Perlman syndrome [RCV000879774] Chr2:232136702 [GRCh38]
Chr2:233001412 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-5C>T single nucleotide variant DIS3L2-related disorder [RCV003948101]|Perlman syndrome [RCV000865299] Chr2:232333835 [GRCh38]
Chr2:233198545 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2569C>T (p.Leu857=) single nucleotide variant Perlman syndrome [RCV000876744] Chr2:232336541 [GRCh38]
Chr2:233201251 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+9C>T single nucleotide variant DIS3L2-related disorder [RCV003903156]|Perlman syndrome [RCV000946005] Chr2:232335883 [GRCh38]
Chr2:233200593 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.423C>T (p.Ile141=) single nucleotide variant DIS3L2-related disorder [RCV003897965]|Perlman syndrome [RCV000973886] Chr2:232087543 [GRCh38]
Chr2:232952253 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1299C>T (p.Ser433=) single nucleotide variant Perlman syndrome [RCV000877537] Chr2:232238627 [GRCh38]
Chr2:233103337 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.999A>G (p.Thr333=) single nucleotide variant Perlman syndrome [RCV001474088] Chr2:232163507 [GRCh38]
Chr2:233028217 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.564T>C (p.Asp188=) single nucleotide variant Perlman syndrome [RCV000869418] Chr2:232087684 [GRCh38]
Chr2:232952394 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2586C>T (p.Thr862=) single nucleotide variant Perlman syndrome [RCV000926804] Chr2:232336558 [GRCh38]
Chr2:233201268 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1863G>C (p.Leu621=) single nucleotide variant Perlman syndrome [RCV001410934] Chr2:232329936 [GRCh38]
Chr2:233194646 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2194C>T (p.Leu732=) single nucleotide variant Perlman syndrome [RCV001477230] Chr2:232334404 [GRCh38]
Chr2:233199114 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.261C>T (p.Ser87=) single nucleotide variant Perlman syndrome [RCV000870281] Chr2:232024327 [GRCh38]
Chr2:232889037 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1698G>A (p.Leu566=) single nucleotide variant Perlman syndrome [RCV002065710] Chr2:232300078 [GRCh38]
Chr2:233164788 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2283G>T (p.Leu761=) single nucleotide variant DIS3L2-related disorder [RCV003942970]|Perlman syndrome [RCV001482390] Chr2:232334493 [GRCh38]
Chr2:233199203 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2289+7C>T single nucleotide variant Perlman syndrome [RCV000870545] Chr2:232334506 [GRCh38]
Chr2:233199216 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.435C>T (p.Leu145=) single nucleotide variant Perlman syndrome [RCV000882380] Chr2:232087555 [GRCh38]
Chr2:232952265 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2061G>T (p.Arg687=) single nucleotide variant Perlman syndrome [RCV000976261] Chr2:232333890 [GRCh38]
Chr2:233198600 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2451G>A (p.Thr817=) single nucleotide variant Perlman syndrome [RCV000865288] Chr2:232335829 [GRCh38]
Chr2:233200539 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2478G>A (p.Glu826=) single nucleotide variant Perlman syndrome [RCV001484580] Chr2:232335856 [GRCh38]
Chr2:233200566 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+7G>A single nucleotide variant Perlman syndrome [RCV000871769] Chr2:232136726 [GRCh38]
Chr2:233001436 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1116G>A (p.Arg372=) single nucleotide variant Perlman syndrome [RCV001504110]|not provided [RCV000877181] Chr2:232163624 [GRCh38]
Chr2:233028334 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.47C>G (p.Pro16Arg) single nucleotide variant Perlman syndrome [RCV001040863] Chr2:232014974 [GRCh38]
Chr2:232879684 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2261C>T (p.Thr754Ile) single nucleotide variant Perlman syndrome [RCV001034977] Chr2:232334471 [GRCh38]
Chr2:233199181 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1888C>G (p.Leu630Val) single nucleotide variant Perlman syndrome [RCV001049294] Chr2:232329961 [GRCh38]
Chr2:233194671 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.579C>G (p.Leu193=) single nucleotide variant Perlman syndrome [RCV001055405] Chr2:232087699 [GRCh38]
Chr2:232952409 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2188G>A (p.Asp730Asn) single nucleotide variant Perlman syndrome [RCV001062372] Chr2:232334398 [GRCh38]
Chr2:233199108 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.916G>A (p.Val306Met) single nucleotide variant Perlman syndrome [RCV001043172] Chr2:232136685 [GRCh38]
Chr2:233001395 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2629G>A (p.Gly877Ser) single nucleotide variant Perlman syndrome [RCV001056130] Chr2:232336601 [GRCh38]
Chr2:233201311 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2271C>G (p.Phe757Leu) single nucleotide variant Inborn genetic diseases [RCV004031261]|Perlman syndrome [RCV001041855] Chr2:232334481 [GRCh38]
Chr2:233199191 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.525AGA[3] (p.Glu176dup) microsatellite Perlman syndrome [RCV001035597] Chr2:232087644..232087645 [GRCh38]
Chr2:232952354..232952355 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1208A>G (p.Asn403Ser) single nucleotide variant Perlman syndrome [RCV001056734] Chr2:232238536 [GRCh38]
Chr2:233103246 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.397A>G (p.Thr133Ala) single nucleotide variant Perlman syndrome [RCV001056820] Chr2:232087517 [GRCh38]
Chr2:232952227 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1093C>A (p.Pro365Thr) single nucleotide variant Perlman syndrome [RCV001059123] Chr2:232163601 [GRCh38]
Chr2:233028311 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.160A>G (p.Met54Val) single nucleotide variant Perlman syndrome [RCV001038466] Chr2:232015621 [GRCh38]
Chr2:232880331 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.616G>A (p.Asp206Asn) single nucleotide variant Perlman syndrome [RCV001038078] Chr2:232130633 [GRCh38]
Chr2:232995343 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1773G>C (p.Met591Ile) single nucleotide variant Perlman syndrome [RCV001038085] Chr2:232329846 [GRCh38]
Chr2:233194556 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2635C>G (p.Pro879Ala) single nucleotide variant Perlman syndrome [RCV001068578] Chr2:232336607 [GRCh38]
Chr2:233201317 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.331G>A (p.Val111Met) single nucleotide variant Perlman syndrome [RCV001057135] Chr2:232030045 [GRCh38]
Chr2:232894755 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.796G>T (p.Ala266Ser) single nucleotide variant Perlman syndrome [RCV001070097]|not provided [RCV002305567] Chr2:232136565 [GRCh38]
Chr2:233001275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.658G>A (p.Asp220Asn) single nucleotide variant Perlman syndrome [RCV001051935] Chr2:232130675 [GRCh38]
Chr2:232995385 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.826C>T (p.Pro276Ser) single nucleotide variant Perlman syndrome [RCV001052346] Chr2:232136595 [GRCh38]
Chr2:233001305 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1459C>T (p.Arg487Cys) single nucleotide variant Perlman syndrome [RCV001047105] Chr2:232263240 [GRCh38]
Chr2:233127950 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter) single nucleotide variant Perlman syndrome [RCV001047170] Chr2:232163604 [GRCh38]
Chr2:233028314 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.275G>A (p.Arg92Gln) single nucleotide variant Inborn genetic diseases [RCV004030746]|Perlman syndrome [RCV001070394] Chr2:232029989 [GRCh38]
Chr2:232894699 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1923T>A (p.Asn641Lys) single nucleotide variant Perlman syndrome [RCV001050367] Chr2:232329996 [GRCh38]
Chr2:233194706 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1396G>A (p.Val466Met) single nucleotide variant Perlman syndrome [RCV001051963] Chr2:232249317 [GRCh38]
Chr2:233114027 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2338C>G (p.Gln780Glu) single nucleotide variant Perlman syndrome [RCV001060383] Chr2:232334679 [GRCh38]
Chr2:233199389 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1817T>C (p.Leu606Pro) single nucleotide variant Perlman syndrome [RCV001070654] Chr2:232329890 [GRCh38]
Chr2:233194600 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.911G>A (p.Arg304His) single nucleotide variant Perlman syndrome [RCV001054242] Chr2:232136680 [GRCh38]
Chr2:233001390 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.264G>A (p.Pro88=) single nucleotide variant Perlman syndrome [RCV001057528] Chr2:232024330 [GRCh38]
Chr2:232889040 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.443A>G (p.His148Arg) single nucleotide variant Perlman syndrome [RCV001057651] Chr2:232087563 [GRCh38]
Chr2:232952273 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1468A>G (p.Thr490Ala) single nucleotide variant Perlman syndrome [RCV001034754] Chr2:232263249 [GRCh38]
Chr2:233127959 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2656T>G (p.Ter886Gly) single nucleotide variant Perlman syndrome [RCV001040413] Chr2:232336628 [GRCh38]
Chr2:233201338 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1459C>A (p.Arg487Ser) single nucleotide variant Perlman syndrome [RCV001060919] Chr2:232263240 [GRCh38]
Chr2:233127950 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1546A>T (p.Ile516Phe) single nucleotide variant Perlman syndrome [RCV000793789] Chr2:232263327 [GRCh38]
Chr2:233128037 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2441C>T (p.Pro814Leu) single nucleotide variant Perlman syndrome [RCV000808351] Chr2:232335819 [GRCh38]
Chr2:233200529 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1924-1G>T single nucleotide variant Perlman syndrome [RCV000809139] Chr2:232330689 [GRCh38]
Chr2:233195399 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1343T>A (p.Leu448Gln) single nucleotide variant Perlman syndrome [RCV000809255] Chr2:232249264 [GRCh38]
Chr2:233113974 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233200473)_(233201350_?)dup duplication Perlman syndrome [RCV000815908] Chr2:232335763..232336640 [GRCh38]
Chr2:233200473..233201350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-9C>T single nucleotide variant Perlman syndrome [RCV001488496] Chr2:232329804 [GRCh38]
Chr2:233194514 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.975G>A (p.Gln325=) single nucleotide variant Perlman syndrome [RCV000978152] Chr2:232163483 [GRCh38]
Chr2:233028193 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.624G>A (p.Pro208=) single nucleotide variant Perlman syndrome [RCV000898370] Chr2:232130641 [GRCh38]
Chr2:232995351 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2298C>A (p.Gly766=) single nucleotide variant Perlman syndrome [RCV000869103] Chr2:232334639 [GRCh38]
Chr2:233199349 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-7T>C single nucleotide variant not provided [RCV000872400] Chr2:232329806 [GRCh38]
Chr2:233194516 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2346C>T (p.Phe782=) single nucleotide variant Perlman syndrome [RCV000876739] Chr2:232334687 [GRCh38]
Chr2:233199397 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+8C>T single nucleotide variant Perlman syndrome [RCV001412131] Chr2:232263448 [GRCh38]
Chr2:233128158 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.708T>C (p.Val236=) single nucleotide variant Perlman syndrome [RCV001446665] Chr2:232136477 [GRCh38]
Chr2:233001187 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1089T>C (p.Ile363=) single nucleotide variant Perlman syndrome [RCV000976841] Chr2:232163597 [GRCh38]
Chr2:233028307 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.72T>G (p.Gly24=) single nucleotide variant Perlman syndrome [RCV001422823] Chr2:232015533 [GRCh38]
Chr2:232880243 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1527T>C (p.Pro509=) single nucleotide variant Perlman syndrome [RCV000869870] Chr2:232263308 [GRCh38]
Chr2:233128018 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2106C>A (p.Pro702=) single nucleotide variant Perlman syndrome [RCV001398345] Chr2:232333935 [GRCh38]
Chr2:233198645 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1365C>T (p.Leu455=) single nucleotide variant Perlman syndrome [RCV000876727] Chr2:232249286 [GRCh38]
Chr2:233113996 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2049A>G (p.Pro683=) single nucleotide variant Perlman syndrome [RCV000870779]|not provided [RCV003432824] Chr2:232333878 [GRCh38]
Chr2:233198588 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1140C>T (p.Phe380=) single nucleotide variant Perlman syndrome [RCV000864461] Chr2:232210341 [GRCh38]
Chr2:233075051 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2418C>T (p.His806=) single nucleotide variant Perlman syndrome [RCV001418748] Chr2:232335796 [GRCh38]
Chr2:233200506 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.459G>A (p.Gln153=) single nucleotide variant Perlman syndrome [RCV000949170] Chr2:232087579 [GRCh38]
Chr2:232952289 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2103G>A (p.Ser701=) single nucleotide variant Perlman syndrome [RCV000872467] Chr2:232333932 [GRCh38]
Chr2:233198642 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.180A>G (p.Ser60=) single nucleotide variant Perlman syndrome [RCV001444974] Chr2:232015641 [GRCh38]
Chr2:232880351 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.846C>T (p.Leu282=) single nucleotide variant Perlman syndrome [RCV001491474] Chr2:232136615 [GRCh38]
Chr2:233001325 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1893C>T (p.Pro631=) single nucleotide variant Perlman syndrome [RCV000862931]|not provided [RCV004711314] Chr2:232329966 [GRCh38]
Chr2:233194676 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-4G>A single nucleotide variant Perlman syndrome [RCV000865656] Chr2:232333836 [GRCh38]
Chr2:233198546 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.798C>T (p.Ala266=) single nucleotide variant Perlman syndrome [RCV001408623] Chr2:232136567 [GRCh38]
Chr2:233001277 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+10C>T single nucleotide variant DIS3L2-related disorder [RCV003895337]|Perlman syndrome [RCV000873196] Chr2:232334745 [GRCh38]
Chr2:233199455 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1A>T (p.Met1Leu) single nucleotide variant DIS3L2-related disorder [RCV003413606]|Perlman syndrome [RCV000802562] Chr2:232014928 [GRCh38]
Chr2:232879638 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.86G>T (p.Gly29Val) single nucleotide variant Perlman syndrome [RCV000819044] Chr2:232015547 [GRCh38]
Chr2:232880257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1699C>T (p.Pro567Ser) single nucleotide variant Perlman syndrome [RCV000792929] Chr2:232300079 [GRCh38]
Chr2:233164789 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1543C>G (p.Pro515Ala) single nucleotide variant Perlman syndrome [RCV000819058] Chr2:232263324 [GRCh38]
Chr2:233128034 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.777C>G (p.Ser259Arg) single nucleotide variant Perlman syndrome [RCV000804542] Chr2:232136546 [GRCh38]
Chr2:233001256 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-5C>A single nucleotide variant Perlman syndrome [RCV001448425] Chr2:232029974 [GRCh38]
Chr2:232894684 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1524C>A (p.Ile508=) single nucleotide variant Perlman syndrome [RCV000871273] Chr2:232263305 [GRCh38]
Chr2:233128015 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2630G>A (p.Gly877Asp) single nucleotide variant Perlman syndrome [RCV000814101] Chr2:232336602 [GRCh38]
Chr2:233201312 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.264+3A>G single nucleotide variant Perlman syndrome [RCV000798072] Chr2:232024333 [GRCh38]
Chr2:232889043 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1577A>G (p.His526Arg) single nucleotide variant Inborn genetic diseases [RCV004029136]|Perlman syndrome [RCV000823176] Chr2:232263358 [GRCh38]
Chr2:233128068 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.849G>A (p.Lys283=) single nucleotide variant Perlman syndrome [RCV000806592] Chr2:232136618 [GRCh38]
Chr2:233001328 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NC_000002.11:g.(?_233198540)_(233201350_?)dup duplication Perlman syndrome [RCV000823231] Chr2:232333830..232336640 [GRCh38]
Chr2:233198540..233201350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2560A>G (p.Ser854Gly) single nucleotide variant Perlman syndrome [RCV000809867] Chr2:232336532 [GRCh38]
Chr2:233201242 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1159G>A (p.Ala387Thr) single nucleotide variant Inborn genetic diseases [RCV002534672]|Perlman syndrome [RCV000801145] Chr2:232210360 [GRCh38]
Chr2:233075070 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1907C>T (p.Ser636Phe) single nucleotide variant Perlman syndrome [RCV000817613] Chr2:232329980 [GRCh38]
Chr2:233194690 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2158+3G>A single nucleotide variant Perlman syndrome [RCV000819352] Chr2:232333990 [GRCh38]
Chr2:233198700 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1566C>G (p.Ser522Arg) single nucleotide variant Inborn genetic diseases [RCV003279108]|Perlman syndrome [RCV000819532] Chr2:232263347 [GRCh38]
Chr2:233128057 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2357_2377delinsGACGCCGT (p.Val786fs) indel Perlman syndrome [RCV000803106] Chr2:232334698..232334718 [GRCh38]
Chr2:233199408..233199428 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.49A>G (p.Arg17Gly) single nucleotide variant Perlman syndrome [RCV000806774] Chr2:232014976 [GRCh38]
Chr2:232879686 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2125G>A (p.Val709Ile) single nucleotide variant Perlman syndrome [RCV000817791] Chr2:232333954 [GRCh38]
Chr2:233198664 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.286A>G (p.Ile96Val) single nucleotide variant Perlman syndrome [RCV000803191] Chr2:232030000 [GRCh38]
Chr2:232894710 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1835C>T (p.Pro612Leu) single nucleotide variant Perlman syndrome [RCV000821437] Chr2:232329908 [GRCh38]
Chr2:233194618 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1044T>C (p.Ser348=) single nucleotide variant Perlman syndrome [RCV001488463] Chr2:232163552 [GRCh38]
Chr2:233028262 [GRCh37]
Chr2:2q37.1		 likely benign
NC_000002.12:g.(?_232333830)_(232336640_?)del deletion Perlman syndrome [RCV000796138] Chr2:232333830..232336640 [GRCh38]
Chr2:233198540..233201350 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_152383.5(DIS3L2):c.218T>G (p.Leu73Trp) single nucleotide variant Perlman syndrome [RCV000806190] Chr2:232024284 [GRCh38]
Chr2:232888994 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1848G>T (p.Arg616Ser) single nucleotide variant Perlman syndrome [RCV000807522] Chr2:232329921 [GRCh38]
Chr2:233194631 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1447C>T (p.Arg483Trp) single nucleotide variant Perlman syndrome [RCV000797891] Chr2:232263228 [GRCh38]
Chr2:233127938 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.994G>C (p.Glu332Gln) single nucleotide variant Perlman syndrome [RCV000824259] Chr2:232163502 [GRCh38]
Chr2:233028212 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.167A>G (p.Lys56Arg) single nucleotide variant Perlman syndrome [RCV000824368] Chr2:232015628 [GRCh38]
Chr2:232880338 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.786T>A (p.Phe262Leu) single nucleotide variant Perlman syndrome [RCV000818332] Chr2:232136555 [GRCh38]
Chr2:233001265 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.961A>G (p.Lys321Glu) single nucleotide variant Perlman syndrome [RCV000819995] Chr2:232163469 [GRCh38]
Chr2:233028179 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2277_2278inv (p.Val760Ile) inversion Perlman syndrome [RCV000820007] Chr2:232334487..232334488 [GRCh38]
Chr2:233199197..233199198 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.916_950+7dup duplication Perlman syndrome [RCV000808484] Chr2:232136684..232136685 [GRCh38]
Chr2:233001394..233001395 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.950+5G>T single nucleotide variant Perlman syndrome [RCV000814920] Chr2:232136724 [GRCh38]
Chr2:233001434 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232249229)_(232300129_?)del deletion Perlman syndrome [RCV000803936] Chr2:232249229..232300129 [GRCh38]
Chr2:233113939..233164839 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2362C>T (p.Arg788Cys) single nucleotide variant Perlman syndrome [RCV000818465]|not provided [RCV003238243] Chr2:232334703 [GRCh38]
Chr2:233199413 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.830G>A (p.Arg277Lys) single nucleotide variant Perlman syndrome [RCV000791892] Chr2:232136599 [GRCh38]
Chr2:233001309 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1556_1565del (p.Glu519fs) deletion Perlman syndrome [RCV000808481] Chr2:232263334..232263343 [GRCh38]
Chr2:233128044..233128053 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1085C>A (p.Thr362Lys) single nucleotide variant Perlman syndrome [RCV000798910] Chr2:232163593 [GRCh38]
Chr2:233028303 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.705G>T (p.Val235=) single nucleotide variant Perlman syndrome [RCV001456938] Chr2:232136474 [GRCh38]
Chr2:233001184 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158G>C (p.Gly720Arg) single nucleotide variant Perlman syndrome [RCV000818707] Chr2:232333987 [GRCh38]
Chr2:233198697 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.288T>C (p.Ile96=) single nucleotide variant Perlman syndrome [RCV000871615]|not provided [RCV004546573]|not specified [RCV001817008] Chr2:232030002 [GRCh38]
Chr2:232894712 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2476G>C (p.Glu826Gln) single nucleotide variant Perlman syndrome [RCV000799218] Chr2:232335854 [GRCh38]
Chr2:233200564 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.32G>A (p.Arg11Gln) single nucleotide variant Perlman syndrome [RCV000809892] Chr2:232014959 [GRCh38]
Chr2:232879669 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.386A>G (p.Asn129Ser) single nucleotide variant Perlman syndrome [RCV000803117] Chr2:232087506 [GRCh38]
Chr2:232952216 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2455G>A (p.Val819Ile) single nucleotide variant Perlman syndrome [RCV000796013] Chr2:232335833 [GRCh38]
Chr2:233200543 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.352G>A (p.Glu118Lys) single nucleotide variant Perlman syndrome [RCV000810333] Chr2:232030066 [GRCh38]
Chr2:232894776 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.418G>T (p.Asp140Tyr) single nucleotide variant Perlman syndrome [RCV000823049] Chr2:232087538 [GRCh38]
Chr2:232952248 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.700A>G (p.Lys234Glu) single nucleotide variant Perlman syndrome [RCV000823229] Chr2:232130717 [GRCh38]
Chr2:232995427 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1610_1617delinsG (p.Lys537fs) indel Perlman syndrome [RCV000797187] Chr2:232263391..232263398 [GRCh38]
Chr2:233128101..233128108 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.973C>A (p.Gln325Lys) single nucleotide variant Perlman syndrome [RCV000823410] Chr2:232163481 [GRCh38]
Chr2:233028191 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2500A>G (p.Ile834Val) single nucleotide variant Perlman syndrome [RCV000807570] Chr2:232336472 [GRCh38]
Chr2:233201182 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.115A>G (p.Asn39Asp) single nucleotide variant Perlman syndrome [RCV000817597] Chr2:232015576 [GRCh38]
Chr2:232880286 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1204G>A (p.Gly402Ser) single nucleotide variant Perlman syndrome [RCV000814024] Chr2:232210405 [GRCh38]
Chr2:233075115 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1851G>C (p.Met617Ile) single nucleotide variant Perlman syndrome [RCV000801378] Chr2:232329924 [GRCh38]
Chr2:233194634 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1171G>A (p.Asp391Asn) single nucleotide variant Perlman syndrome [RCV000814130] Chr2:232210372 [GRCh38]
Chr2:233075082 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1408C>G (p.Leu470Val) single nucleotide variant Perlman syndrome [RCV000791650] Chr2:232249329 [GRCh38]
Chr2:233114039 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.280A>G (p.Ile94Val) single nucleotide variant Perlman syndrome [RCV000794168] Chr2:232029994 [GRCh38]
Chr2:232894704 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1978G>A (p.Val660Met) single nucleotide variant Perlman syndrome [RCV000808248] Chr2:232330744 [GRCh38]
Chr2:233195454 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.172_173delinsCT (p.Asp58Leu) indel Perlman syndrome [RCV000791906] Chr2:232015633..232015634 [GRCh38]
Chr2:232880343..232880344 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2518G>A (p.Val840Met) single nucleotide variant Perlman syndrome [RCV000805205] Chr2:232336490 [GRCh38]
Chr2:233201200 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2425_2427del (p.Lys809del) deletion Perlman syndrome [RCV000805396] Chr2:232335801..232335803 [GRCh38]
Chr2:233200511..233200513 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.134A>G (p.Lys45Arg) single nucleotide variant Perlman syndrome [RCV000821898] Chr2:232015595 [GRCh38]
Chr2:232880305 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.854G>A (p.Cys285Tyr) single nucleotide variant Perlman syndrome [RCV000792867] Chr2:232136623 [GRCh38]
Chr2:233001333 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232329803)_(232336640_?)del deletion Perlman syndrome [RCV000803927] Chr2:232329803..232336640 [GRCh38]
Chr2:233194513..233201350 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2066A>G (p.Tyr689Cys) single nucleotide variant Perlman syndrome [RCV000812142] Chr2:232333895 [GRCh38]
Chr2:233198605 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.943G>A (p.Ala315Thr) single nucleotide variant Perlman syndrome [RCV001045766] Chr2:232136712 [GRCh38]
Chr2:233001422 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232550626-232968158)x3 copy number gain See cases [RCV000790573] Chr2:232550626..232968158 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.860A>C (p.Gln287Pro) single nucleotide variant Perlman syndrome [RCV000806564] Chr2:232136629 [GRCh38]
Chr2:233001339 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.943G>T (p.Ala315Ser) single nucleotide variant Perlman syndrome [RCV000806761] Chr2:232136712 [GRCh38]
Chr2:233001422 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232249229)_(232249356_?)del deletion Perlman syndrome [RCV001031579] Chr2:233113939..233114066 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1660-3C>A single nucleotide variant Perlman syndrome [RCV000807722] Chr2:232300037 [GRCh38]
Chr2:233164747 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-14T>C single nucleotide variant Perlman syndrome [RCV001137848] Chr2:232336455 [GRCh38]
Chr2:233201165 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.*44G>A single nucleotide variant Perlman syndrome [RCV001137851] Chr2:232336674 [GRCh38]
Chr2:233201384 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2539G>C (p.Glu847Gln) single nucleotide variant Perlman syndrome [RCV000792221] Chr2:232336511 [GRCh38]
Chr2:233201221 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.248C>T (p.Ala83Val) single nucleotide variant Perlman syndrome [RCV001065636] Chr2:232024314 [GRCh38]
Chr2:232889024 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1329G>C (p.Met443Ile) single nucleotide variant Perlman syndrome [RCV000808877] Chr2:232249250 [GRCh38]
Chr2:233113960 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2119G>A (p.Ala707Thr) single nucleotide variant Perlman syndrome [RCV000808949] Chr2:232333948 [GRCh38]
Chr2:233198658 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.85G>C (p.Gly29Arg) single nucleotide variant Perlman syndrome [RCV000808956] Chr2:232015546 [GRCh38]
Chr2:232880256 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.47C>A (p.Pro16His) single nucleotide variant Inborn genetic diseases [RCV003259114]|Perlman syndrome [RCV001137632] Chr2:232014974 [GRCh38]
Chr2:232879684 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2556G>C (p.Lys852Asn) single nucleotide variant Perlman syndrome [RCV000792763] Chr2:232336528 [GRCh38]
Chr2:233201238 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1796G>A (p.Arg599His) single nucleotide variant Inborn genetic diseases [RCV004027539]|Perlman syndrome [RCV000795855] Chr2:232329869 [GRCh38]
Chr2:233194579 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.383G>A (p.Ser128Asn) single nucleotide variant Perlman syndrome [RCV000814853] Chr2:232087503 [GRCh38]
Chr2:232952213 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395G>T (p.Ala799Ser) single nucleotide variant Perlman syndrome [RCV000814881] Chr2:232335773 [GRCh38]
Chr2:233200483 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2184G>A (p.Ala728=) single nucleotide variant Perlman syndrome [RCV000862374] Chr2:232334394 [GRCh38]
Chr2:233199104 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1237G>T (p.Val413Leu) single nucleotide variant Perlman syndrome [RCV000805992] Chr2:232238565 [GRCh38]
Chr2:233103275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.933C>G (p.Asp311Glu) single nucleotide variant Perlman syndrome [RCV000822622] Chr2:232136702 [GRCh38]
Chr2:233001412 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.821G>A (p.Arg274Gln) single nucleotide variant Perlman syndrome [RCV000822631] Chr2:232136590 [GRCh38]
Chr2:233001300 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.520G>A (p.Asp174Asn) single nucleotide variant Inborn genetic diseases [RCV002537353]|Perlman syndrome [RCV000811156] Chr2:232087640 [GRCh38]
Chr2:232952350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2046C>T (p.Asp682=) single nucleotide variant Perlman syndrome [RCV000869823] Chr2:232333875 [GRCh38]
Chr2:233198585 [GRCh37]
Chr2:2q37.1		 likely benign
NC_000002.11:g.(?_233194513)_(233201350_?)dup duplication Perlman syndrome [RCV000800679] Chr2:232329803..232336640 [GRCh38]
Chr2:233194513..233201350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2402C>A (p.Ala801Asp) single nucleotide variant Perlman syndrome [RCV000813160] Chr2:232335780 [GRCh38]
Chr2:233200490 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.118A>G (p.Arg40Gly) single nucleotide variant Perlman syndrome [RCV000819857] Chr2:232015579 [GRCh38]
Chr2:232880289 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1224T>A (p.Val408=) single nucleotide variant Perlman syndrome [RCV000871857]|not provided [RCV004711337] Chr2:232238552 [GRCh38]
Chr2:233103262 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1090C>G (p.Pro364Ala) single nucleotide variant Perlman syndrome [RCV000800184] Chr2:232163598 [GRCh38]
Chr2:233028308 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.750C>T (p.Phe250=) single nucleotide variant Perlman syndrome [RCV001442165] Chr2:232136519 [GRCh38]
Chr2:233001229 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1648C>T (p.Arg550Cys) single nucleotide variant Perlman syndrome [RCV000804095] Chr2:232263429 [GRCh38]
Chr2:233128139 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1426-8C>T single nucleotide variant Perlman syndrome [RCV000871501] Chr2:232263199 [GRCh38]
Chr2:233127909 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.778G>A (p.Glu260Lys) single nucleotide variant Perlman syndrome [RCV000814227] Chr2:232136547 [GRCh38]
Chr2:233001257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1178C>T (p.Ala393Val) single nucleotide variant Perlman syndrome [RCV000804330] Chr2:232210379 [GRCh38]
Chr2:233075089 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.927GGA[1] (p.Glu310del) microsatellite Perlman syndrome [RCV000792987] Chr2:232136695..232136697 [GRCh38]
Chr2:233001405..233001407 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2413C>T (p.His805Tyr) single nucleotide variant Perlman syndrome [RCV000801023] Chr2:232335791 [GRCh38]
Chr2:233200501 [GRCh37]
Chr2:2q37.1		 uncertain significance
Single allele deletion Skeletal dysplasia [RCV000787429] Chr2:232647812..232930068 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1099G>A (p.Glu367Lys) single nucleotide variant Perlman syndrome [RCV000798132] Chr2:232163607 [GRCh38]
Chr2:233028317 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232873876-232947601)x1 copy number loss not provided [RCV000846564] Chr2:232873876..232947601 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.*13G>T single nucleotide variant Perlman syndrome [RCV001137849] Chr2:232336643 [GRCh38]
Chr2:233201353 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1425+7A>G single nucleotide variant Perlman syndrome [RCV001434614] Chr2:232249353 [GRCh38]
Chr2:233114063 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-5T>C single nucleotide variant not provided [RCV000892814] Chr2:232329808 [GRCh38]
Chr2:233194518 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.705G>A (p.Val235=) single nucleotide variant Perlman syndrome [RCV001047157] Chr2:232136474 [GRCh38]
Chr2:233001184 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2375A>G (p.Gln792Arg) single nucleotide variant Perlman syndrome [RCV001065988] Chr2:232334716 [GRCh38]
Chr2:233199426 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1214A>G (p.Lys405Arg) single nucleotide variant Perlman syndrome [RCV001044388] Chr2:232238542 [GRCh38]
Chr2:233103252 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1112G>T (p.Arg371Ile) single nucleotide variant Perlman syndrome [RCV001044579]|not provided [RCV001772242] Chr2:232163620 [GRCh38]
Chr2:233028330 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1810C>T (p.Gln604Ter) single nucleotide variant Perlman syndrome [RCV001246580] Chr2:232329883 [GRCh38]
Chr2:233194593 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.317T>C (p.Leu106Ser) single nucleotide variant Perlman syndrome [RCV001213771] Chr2:232030031 [GRCh38]
Chr2:232894741 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2380C>T (p.Arg794Cys) single nucleotide variant Perlman syndrome [RCV001046160] Chr2:232334721 [GRCh38]
Chr2:233199431 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232333830)_(232336630_?)dup duplication Perlman syndrome [RCV001032070] Chr2:233198540..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.440G>A (p.Gly147Glu) single nucleotide variant Perlman syndrome [RCV001246171] Chr2:232087560 [GRCh38]
Chr2:232952270 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.406G>C (p.Ala136Pro) single nucleotide variant Perlman syndrome [RCV001212422] Chr2:232087526 [GRCh38]
Chr2:232952236 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2551_2565del (p.Leu851_Ala855del) deletion Perlman syndrome [RCV001247477] Chr2:232336520..232336534 [GRCh38]
Chr2:233201230..233201244 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.337G>A (p.Val113Met) single nucleotide variant Perlman syndrome [RCV001204594] Chr2:232030051 [GRCh38]
Chr2:232894761 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.767A>G (p.Asp256Gly) single nucleotide variant Perlman syndrome [RCV001230110] Chr2:232136536 [GRCh38]
Chr2:233001246 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1009_1011dup (p.Leu337dup) duplication Perlman syndrome [RCV001209194] Chr2:232163514..232163515 [GRCh38]
Chr2:233028224..233028225 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1460G>A (p.Arg487His) single nucleotide variant Perlman syndrome [RCV001208337] Chr2:232263241 [GRCh38]
Chr2:233127951 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.262C>T (p.Pro88Ser) single nucleotide variant Perlman syndrome [RCV001236664] Chr2:232024328 [GRCh38]
Chr2:232889038 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2576G>A (p.Arg859Gln) single nucleotide variant Perlman syndrome [RCV001248457] Chr2:232336548 [GRCh38]
Chr2:233201258 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2533C>G (p.Gln845Glu) single nucleotide variant Perlman syndrome [RCV001225858] Chr2:232336505 [GRCh38]
Chr2:233201215 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.466A>G (p.Lys156Glu) single nucleotide variant Perlman syndrome [RCV001214278] Chr2:232087586 [GRCh38]
Chr2:232952296 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.10C>A (p.Pro4Thr) single nucleotide variant Perlman syndrome [RCV001213899] Chr2:232014937 [GRCh38]
Chr2:232879647 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1582G>A (p.Ala528Thr) single nucleotide variant Perlman syndrome [RCV001233574] Chr2:232263363 [GRCh38]
Chr2:233128073 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.619G>A (p.Ala207Thr) single nucleotide variant Perlman syndrome [RCV001223004] Chr2:232130636 [GRCh38]
Chr2:232995346 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.610G>A (p.Asp204Asn) single nucleotide variant Perlman syndrome [RCV001222528] Chr2:232130627 [GRCh38]
Chr2:232995337 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.304C>A (p.Arg102Ser) single nucleotide variant Perlman syndrome [RCV001224558] Chr2:232030018 [GRCh38]
Chr2:232894728 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.758T>G (p.Leu253Arg) single nucleotide variant Perlman syndrome [RCV001224573] Chr2:232136527 [GRCh38]
Chr2:233001237 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1553C>T (p.Pro518Leu) single nucleotide variant Perlman syndrome [RCV001223172] Chr2:232263334 [GRCh38]
Chr2:233128044 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter) single nucleotide variant Perlman syndrome [RCV001237445] Chr2:232334380 [GRCh38]
Chr2:233199090 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.2629G>T (p.Gly877Cys) single nucleotide variant Perlman syndrome [RCV001220798] Chr2:232336601 [GRCh38]
Chr2:233201311 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1391_1393del (p.Phe464del) deletion Perlman syndrome [RCV001241176] Chr2:232249310..232249312 [GRCh38]
Chr2:233114020..233114022 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1529C>A (p.Ala510Glu) single nucleotide variant Perlman syndrome [RCV001227023] Chr2:232263310 [GRCh38]
Chr2:233128020 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1314A>G (p.Gln438=) single nucleotide variant Perlman syndrome [RCV001237490] Chr2:232238642 [GRCh38]
Chr2:233103352 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.274C>T (p.Arg92Ter) single nucleotide variant Perlman syndrome [RCV001221233] Chr2:232029988 [GRCh38]
Chr2:232894698 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1253C>T (p.Pro418Leu) single nucleotide variant Inborn genetic diseases [RCV002561718]|Perlman syndrome [RCV001209842]|not provided [RCV001773469] Chr2:232238581 [GRCh38]
Chr2:233103291 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_152383.5(DIS3L2):c.128G>T (p.Arg43Leu) single nucleotide variant Perlman syndrome [RCV001227019] Chr2:232015589 [GRCh38]
Chr2:232880299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.127C>G (p.Arg43Gly) single nucleotide variant Perlman syndrome [RCV001221193] Chr2:232015588 [GRCh38]
Chr2:232880298 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1956G>C (p.Lys652Asn) single nucleotide variant Perlman syndrome [RCV001241563] Chr2:232330722 [GRCh38]
Chr2:233195432 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.580_581del (p.Val195fs) microsatellite Perlman syndrome [RCV001225358] Chr2:232087697..232087698 [GRCh38]
Chr2:232952407..232952408 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2394+1G>T single nucleotide variant Perlman syndrome [RCV001241731] Chr2:232334736 [GRCh38]
Chr2:233199446 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2232G>A (p.Met744Ile) single nucleotide variant Perlman syndrome [RCV001213043] Chr2:232334442 [GRCh38]
Chr2:233199152 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1832C>T (p.Pro611Leu) single nucleotide variant Perlman syndrome [RCV001211177] Chr2:232329905 [GRCh38]
Chr2:233194615 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2588_2591dup (p.His865fs) duplication Perlman syndrome [RCV001229544] Chr2:232336559..232336560 [GRCh38]
Chr2:233201269..233201270 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.911G>C (p.Arg304Pro) single nucleotide variant Perlman syndrome [RCV001242253] Chr2:232136680 [GRCh38]
Chr2:233001390 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2608_2613del (p.Lys870_Glu871del) deletion Perlman syndrome [RCV001218950] Chr2:232336577..232336582 [GRCh38]
Chr2:233201287..233201292 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.726A>T (p.Lys242Asn) single nucleotide variant Perlman syndrome [RCV001219109] Chr2:232136495 [GRCh38]
Chr2:233001205 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.645del (p.Cys216fs) deletion DIS3L2-related disorder [RCV003398929]|Perlman syndrome [RCV001204375] Chr2:232130661 [GRCh38]
Chr2:232995371 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.551A>G (p.Asn184Ser) single nucleotide variant Perlman syndrome [RCV001202321] Chr2:232087671 [GRCh38]
Chr2:232952381 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.884A>G (p.Asp295Gly) single nucleotide variant Perlman syndrome [RCV001219515] Chr2:232136653 [GRCh38]
Chr2:233001363 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.173A>G (p.Asp58Gly) single nucleotide variant Perlman syndrome [RCV001202120] Chr2:232015634 [GRCh38]
Chr2:232880344 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1205-13C>T single nucleotide variant Perlman syndrome [RCV001142505] Chr2:232238520 [GRCh38]
Chr2:233103230 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.*73G>A single nucleotide variant Perlman syndrome [RCV001140103] Chr2:232336703 [GRCh38]
Chr2:233201413 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*475G>C single nucleotide variant Perlman syndrome [RCV001140866] Chr2:232337105 [GRCh38]
Chr2:233201815 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.500A>G (p.Glu167Gly) single nucleotide variant Perlman syndrome [RCV001229547] Chr2:232087620 [GRCh38]
Chr2:232952330 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1077G>A (p.Leu359=) single nucleotide variant Perlman syndrome [RCV003106454] Chr2:232163585 [GRCh38]
Chr2:233028295 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-299T>C single nucleotide variant not provided [RCV001564587] Chr2:232136173 [GRCh38]
Chr2:233000883 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+239C>T single nucleotide variant not provided [RCV001570761] Chr2:232336113 [GRCh38]
Chr2:233200823 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+139G>A single nucleotide variant not provided [RCV001552991] Chr2:232334874 [GRCh38]
Chr2:233199584 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1124+269A>T single nucleotide variant not provided [RCV001698714] Chr2:232163901 [GRCh38]
Chr2:233028611 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2394+141G>A single nucleotide variant not provided [RCV001694877] Chr2:232334876 [GRCh38]
Chr2:233199586 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2289+37G>A single nucleotide variant not provided [RCV001652759] Chr2:232334536 [GRCh38]
Chr2:233199246 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1739+28A>G single nucleotide variant not provided [RCV001549861] Chr2:232300147 [GRCh38]
Chr2:233164857 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+86C>T single nucleotide variant not provided [RCV001550036] Chr2:232263526 [GRCh38]
Chr2:233128236 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-182A>G single nucleotide variant not provided [RCV001680272] Chr2:232299858 [GRCh38]
Chr2:233164568 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1740-76C>T single nucleotide variant not provided [RCV001551382] Chr2:232329737 [GRCh38]
Chr2:233194447 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.*49A>T single nucleotide variant not provided [RCV001551622] Chr2:232343624 [GRCh38]
Chr2:233208334 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-297C>G single nucleotide variant not provided [RCV001577858] Chr2:232210029 [GRCh38]
Chr2:233074739 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2143C>T (p.Leu715=) single nucleotide variant Perlman syndrome [RCV001406947] Chr2:232333972 [GRCh38]
Chr2:233198682 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2397A>G (p.Ala799=) single nucleotide variant Perlman syndrome [RCV001432393] Chr2:232335775 [GRCh38]
Chr2:233200485 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2616G>A (p.Glu872=) single nucleotide variant Perlman syndrome [RCV000944980] Chr2:232336588 [GRCh38]
Chr2:233201298 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2064C>T (p.His688=) single nucleotide variant Perlman syndrome [RCV002546036] Chr2:232333893 [GRCh38]
Chr2:233198603 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.546A>G (p.Thr182=) single nucleotide variant Perlman syndrome [RCV001475615] Chr2:232087666 [GRCh38]
Chr2:232952376 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.549A>G (p.Gln183=) single nucleotide variant Perlman syndrome [RCV001493125] Chr2:232087669 [GRCh38]
Chr2:232952379 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2004C>T (p.Pro668=) single nucleotide variant Perlman syndrome [RCV000869134] Chr2:232330770 [GRCh38]
Chr2:233195480 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2577G>T (p.Arg859=) single nucleotide variant Perlman syndrome [RCV000953844] Chr2:232336549 [GRCh38]
Chr2:233201259 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2034G>T (p.Gly678=) single nucleotide variant Perlman syndrome [RCV000870310] Chr2:232333863 [GRCh38]
Chr2:233198573 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2310A>G (p.Ser770=) single nucleotide variant Perlman syndrome [RCV001419354] Chr2:232334651 [GRCh38]
Chr2:233199361 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.774C>T (p.Asn258=) single nucleotide variant Perlman syndrome [RCV002065777] Chr2:232136543 [GRCh38]
Chr2:233001253 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1038T>C (p.Asp346=) single nucleotide variant Perlman syndrome [RCV001480078] Chr2:232163546 [GRCh38]
Chr2:233028256 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.93G>A (p.Ser31=) single nucleotide variant Perlman syndrome [RCV000930702] Chr2:232015554 [GRCh38]
Chr2:232880264 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2442G>A (p.Pro814=) single nucleotide variant Perlman syndrome [RCV000876145] Chr2:232335820 [GRCh38]
Chr2:233200530 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1218G>C (p.Val406=) single nucleotide variant Perlman syndrome [RCV001407816] Chr2:232238546 [GRCh38]
Chr2:233103256 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.945C>T (p.Ala315=) single nucleotide variant Perlman syndrome [RCV001451591] Chr2:232136714 [GRCh38]
Chr2:233001424 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2532G>A (p.Leu844=) single nucleotide variant Perlman syndrome [RCV001478656] Chr2:232336504 [GRCh38]
Chr2:233201214 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.531T>C (p.Asp177=) single nucleotide variant Perlman syndrome [RCV000864253]|not provided [RCV004711317] Chr2:232087651 [GRCh38]
Chr2:232952361 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1830C>T (p.His610=) single nucleotide variant Perlman syndrome [RCV002064902] Chr2:232329903 [GRCh38]
Chr2:233194613 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1829A>G (p.His610Arg) single nucleotide variant Perlman syndrome [RCV001139985] Chr2:232329902 [GRCh38]
Chr2:233194612 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*77G>T single nucleotide variant Perlman syndrome [RCV001140104]|not provided [RCV001557586] Chr2:232336707 [GRCh38]
Chr2:233201417 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.750C>G (p.Phe250Leu) single nucleotide variant Perlman syndrome [RCV001207333] Chr2:232136519 [GRCh38]
Chr2:233001229 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1836del (p.Gln614fs) deletion Perlman syndrome [RCV001242307] Chr2:232329909 [GRCh38]
Chr2:233194619 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1787dup (p.Ile597fs) duplication Perlman syndrome [RCV001222361] Chr2:232329858..232329859 [GRCh38]
Chr2:233194568..233194569 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2300C>T (p.Pro767Leu) single nucleotide variant Perlman syndrome [RCV001214466] Chr2:232334641 [GRCh38]
Chr2:233199351 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.119G>A (p.Arg40Lys) single nucleotide variant Perlman syndrome [RCV001219025] Chr2:232015580 [GRCh38]
Chr2:232880290 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.46C>A (p.Pro16Thr) single nucleotide variant Perlman syndrome [RCV001230273] Chr2:232014973 [GRCh38]
Chr2:232879683 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.337G>C (p.Val113Leu) single nucleotide variant Perlman syndrome [RCV001035897] Chr2:232030051 [GRCh38]
Chr2:232894761 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1639G>A (p.Gly547Ser) single nucleotide variant Perlman syndrome [RCV001219697] Chr2:232263420 [GRCh38]
Chr2:233128130 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.647G>A (p.Cys216Tyr) single nucleotide variant Perlman syndrome [RCV001245062] Chr2:232130664 [GRCh38]
Chr2:232995374 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.427G>A (p.Glu143Lys) single nucleotide variant Perlman syndrome [RCV001213452] Chr2:232087547 [GRCh38]
Chr2:232952257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.83T>C (p.Ile28Thr) single nucleotide variant Perlman syndrome [RCV001227395] Chr2:232015544 [GRCh38]
Chr2:232880254 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2653A>G (p.Ser885Gly) single nucleotide variant Perlman syndrome [RCV001223466] Chr2:232336625 [GRCh38]
Chr2:233201335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.526G>A (p.Glu176Lys) single nucleotide variant Perlman syndrome [RCV001208816] Chr2:232087646 [GRCh38]
Chr2:232952356 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2548G>A (p.Ala850Thr) single nucleotide variant Perlman syndrome [RCV001208826] Chr2:232336520 [GRCh38]
Chr2:233201230 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2088del (p.Leu695_Tyr696insTer) deletion Perlman syndrome [RCV001208905] Chr2:232333917 [GRCh38]
Chr2:233198627 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1556A>C (p.Glu519Ala) single nucleotide variant Perlman syndrome [RCV001243736] Chr2:232263337 [GRCh38]
Chr2:233128047 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.581C>T (p.Ser194Leu) single nucleotide variant Inborn genetic diseases [RCV004031325]|Perlman syndrome [RCV001043616] Chr2:232087701 [GRCh38]
Chr2:232952411 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.958G>T (p.Ala320Ser) single nucleotide variant Perlman syndrome [RCV001224108] Chr2:232163466 [GRCh38]
Chr2:233028176 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1849A>G (p.Met617Val) single nucleotide variant Perlman syndrome [RCV001243866] Chr2:232329922 [GRCh38]
Chr2:233194632 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1073G>A (p.Gly358Asp) single nucleotide variant Perlman syndrome [RCV001245654] Chr2:232163581 [GRCh38]
Chr2:233028291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.67G>A (p.Ala23Thr) single nucleotide variant Perlman syndrome [RCV001202857] Chr2:232015528 [GRCh38]
Chr2:232880238 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1744G>A (p.Val582Met) single nucleotide variant Perlman syndrome [RCV001213805] Chr2:232329817 [GRCh38]
Chr2:233194527 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1544C>G (p.Pro515Arg) single nucleotide variant Perlman syndrome [RCV001234366] Chr2:232263325 [GRCh38]
Chr2:233128035 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2622_2642dup (p.Glu874_Glu880dup) duplication Perlman syndrome [RCV001240848] Chr2:232336588..232336589 [GRCh38]
Chr2:233201298..233201299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232014928)_(232300129_?)dup duplication Perlman syndrome [RCV001031418] Chr2:232879638..233164839 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1009C>A (p.Leu337Ile) single nucleotide variant Perlman syndrome [RCV001225357] Chr2:232163517 [GRCh38]
Chr2:233028227 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1909G>T (p.Ala637Ser) single nucleotide variant Perlman syndrome [RCV001241593] Chr2:232329982 [GRCh38]
Chr2:233194692 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1619G>T (p.Arg540Leu) single nucleotide variant Perlman syndrome [RCV001218137] Chr2:232263400 [GRCh38]
Chr2:233128110 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1934C>T (p.Thr645Ile) single nucleotide variant Perlman syndrome [RCV001225627] Chr2:232330700 [GRCh38]
Chr2:233195410 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.897A>C (p.Thr299=) single nucleotide variant Perlman syndrome [RCV001484751] Chr2:232136666 [GRCh38]
Chr2:233001376 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly) insertion DIS3L2-related disorder [RCV003910978]|Perlman syndrome [RCV001762741]|not provided [RCV001727187] Chr2:232343413..232343414 [GRCh38]
Chr2:233208123..233208124 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.2159-168C>T single nucleotide variant not provided [RCV001655961] Chr2:232334201 [GRCh38]
Chr2:233198911 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.366+250T>G single nucleotide variant not provided [RCV001568939] Chr2:232030330 [GRCh38]
Chr2:232895040 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1924-128C>T single nucleotide variant not provided [RCV001577002] Chr2:232330562 [GRCh38]
Chr2:233195272 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.553G>T (p.Val185Leu) single nucleotide variant Perlman syndrome [RCV002472063] Chr2:232087673 [GRCh38]
Chr2:232952383 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1024G>A (p.Val342Met) single nucleotide variant Perlman syndrome [RCV001045256] Chr2:232163532 [GRCh38]
Chr2:233028242 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1970G>A (p.Arg657His) single nucleotide variant DIS3L2-related disorder [RCV004751861]|Perlman syndrome [RCV001043910] Chr2:232330736 [GRCh38]
Chr2:233195446 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.539G>A (p.Gly180Asp) single nucleotide variant Perlman syndrome [RCV001066574] Chr2:232087659 [GRCh38]
Chr2:232952369 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NC_000002.12:g.232343578A>C single nucleotide variant DIS3L2-related disorder [RCV003980817]|not provided [RCV001639149] Chr2:232343578 [GRCh38]
Chr2:233208288 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1317+234A>G single nucleotide variant not provided [RCV001688060] Chr2:232238879 [GRCh38]
Chr2:233103589 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.702+33A>G single nucleotide variant not provided [RCV001619148] Chr2:232130752 [GRCh38]
Chr2:232995462 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1740-119T>G single nucleotide variant not provided [RCV001590568] Chr2:232329694 [GRCh38]
Chr2:233194404 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.1582-193C>T single nucleotide variant not provided [RCV001598099] Chr2:232343152 [GRCh38]
Chr2:233207862 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2394+39C>T single nucleotide variant not provided [RCV001638534] Chr2:232334774 [GRCh38]
Chr2:233199484 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1205-12G>A single nucleotide variant Perlman syndrome [RCV001142506] Chr2:232238521 [GRCh38]
Chr2:233103231 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_152383.5(DIS3L2):c.97G>C (p.Gly33Arg) single nucleotide variant Inborn genetic diseases [RCV003283961]|Perlman syndrome [RCV001071321] Chr2:232015558 [GRCh38]
Chr2:232880268 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2394+5G>C single nucleotide variant Perlman syndrome [RCV001049607] Chr2:232334740 [GRCh38]
Chr2:233199450 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1534G>A (p.Glu512Lys) single nucleotide variant Perlman syndrome [RCV001137749] Chr2:232263315 [GRCh38]
Chr2:233128025 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1970G>T (p.Arg657Leu) single nucleotide variant Perlman syndrome [RCV001045122] Chr2:232330736 [GRCh38]
Chr2:233195446 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1784A>C (p.His595Pro) single nucleotide variant Perlman syndrome [RCV001045697] Chr2:232329857 [GRCh38]
Chr2:233194567 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1492C>A (p.Gln498Lys) single nucleotide variant Perlman syndrome [RCV001069221] Chr2:232263273 [GRCh38]
Chr2:233127983 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.264+4A>T single nucleotide variant Perlman syndrome [RCV001047600] Chr2:232024334 [GRCh38]
Chr2:232889044 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232249229)_(232249356_?)dup duplication Perlman syndrome [RCV001033205] Chr2:233113939..233114066 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.-143C>G single nucleotide variant Perlman syndrome [RCV001142379] Chr2:231961716 [GRCh38]
Chr2:232826426 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*315G>C single nucleotide variant Perlman syndrome [RCV001140865] Chr2:232336945 [GRCh38]
Chr2:233201655 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.101A>C (p.Asp34Ala) single nucleotide variant Perlman syndrome [RCV001046745] Chr2:232015562 [GRCh38]
Chr2:232880272 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1495A>G (p.Ser499Gly) single nucleotide variant Perlman syndrome [RCV001070845] Chr2:232263276 [GRCh38]
Chr2:233127986 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.505C>T (p.Gln169Ter) single nucleotide variant Perlman syndrome [RCV001047046] Chr2:232087625 [GRCh38]
Chr2:232952335 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1125-253C>T single nucleotide variant not provided [RCV001583086] Chr2:232210073 [GRCh38]
Chr2:233074783 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2294G>A (p.Ser765Asn) single nucleotide variant Perlman syndrome [RCV001071354] Chr2:232334635 [GRCh38]
Chr2:233199345 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs) duplication Perlman syndrome [RCV001047708] Chr2:232030035..232030036 [GRCh38]
Chr2:232894745..232894746 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.2635C>A (p.Pro879Thr) single nucleotide variant Perlman syndrome [RCV001035753] Chr2:232336607 [GRCh38]
Chr2:233201317 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.211-131T>G single nucleotide variant not provided [RCV001681040] Chr2:232024146 [GRCh38]
Chr2:232888856 [GRCh37]
Chr2:2q37.1		 benign
NM_001257281.2(DIS3L2):c.1582-78C>G single nucleotide variant not provided [RCV001724679] Chr2:232343267 [GRCh38]
Chr2:233207977 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.951-99A>G single nucleotide variant not provided [RCV001650018] Chr2:232163360 [GRCh38]
Chr2:233028070 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1923+99G>A single nucleotide variant not provided [RCV001589840] Chr2:232330095 [GRCh38]
Chr2:233194805 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.*249T>C single nucleotide variant not provided [RCV001693682] Chr2:232343824 [GRCh38]
Chr2:233208534 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1318-349A>G single nucleotide variant not provided [RCV001615830] Chr2:232248890 [GRCh38]
Chr2:233113600 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1844C>G (p.Thr615Arg) single nucleotide variant Perlman syndrome [RCV001048225] Chr2:232329917 [GRCh38]
Chr2:233194627 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1317+114A>G single nucleotide variant not provided [RCV001564881] Chr2:232238759 [GRCh38]
Chr2:233103469 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter) single nucleotide variant Perlman syndrome [RCV001067310] Chr2:232210363 [GRCh38]
Chr2:233075073 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.264+283G>A single nucleotide variant not provided [RCV001692927] Chr2:232024613 [GRCh38]
Chr2:232889323 [GRCh37]
Chr2:2q37.1		 benign
NC_000002.12:g.(?_232130609)_(232136729_?)del deletion Perlman syndrome [RCV001031342] Chr2:232995319..233001439 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.164C>T (p.Ser55Phe) single nucleotide variant Perlman syndrome [RCV001045786] Chr2:232015625 [GRCh38]
Chr2:232880335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232130609)_(232130729_?)del deletion Perlman syndrome [RCV001031471] Chr2:232995319..232995439 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2394+131G>T single nucleotide variant not provided [RCV001565164] Chr2:232334866 [GRCh38]
Chr2:233199576 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-311A>G single nucleotide variant not provided [RCV001616485] Chr2:232023966 [GRCh38]
Chr2:232888676 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.602-298C>T single nucleotide variant not provided [RCV001590087] Chr2:232130321 [GRCh38]
Chr2:232995031 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-131C>T single nucleotide variant not provided [RCV001548030] Chr2:232210195 [GRCh38]
Chr2:233074905 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.248C>G (p.Ala83Gly) single nucleotide variant Perlman syndrome [RCV001068333]|not provided [RCV004693573] Chr2:232024314 [GRCh38]
Chr2:232889024 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.211-8T>G single nucleotide variant Perlman syndrome [RCV001218564] Chr2:232024269 [GRCh38]
Chr2:232888979 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.875G>T (p.Arg292Leu) single nucleotide variant Perlman syndrome [RCV001217151] Chr2:232136644 [GRCh38]
Chr2:233001354 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1903A>G (p.Ser635Gly) single nucleotide variant Perlman syndrome [RCV001052676] Chr2:232329976 [GRCh38]
Chr2:233194686 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2319_2320delinsCT (p.Met773_Val774delinsIleLeu) indel Perlman syndrome [RCV001059974] Chr2:232334660..232334661 [GRCh38]
Chr2:233199370..233199371 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.12:g.(?_232329803)_(232336630_?)del deletion Perlman syndrome [RCV001032358] Chr2:233194513..233201340 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1792C>T (p.His598Tyr) single nucleotide variant Perlman syndrome [RCV001217276] Chr2:232329865 [GRCh38]
Chr2:233194575 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1978G>T (p.Val660Leu) single nucleotide variant Perlman syndrome [RCV001035358]|not provided [RCV004693448] Chr2:232330744 [GRCh38]
Chr2:233195454 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1831C>T (p.Pro611Ser) single nucleotide variant Perlman syndrome [RCV001047045] Chr2:232329904 [GRCh38]
Chr2:233194614 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1798G>A (p.Ala600Thr) single nucleotide variant DIS3L2-related disorder [RCV003928790]|Perlman syndrome [RCV001217613] Chr2:232329871 [GRCh38]
Chr2:233194581 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1724A>T (p.Tyr575Phe) single nucleotide variant Perlman syndrome [RCV001035504] Chr2:232300104 [GRCh38]
Chr2:233164814 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2026T>C (p.Cys676Arg) single nucleotide variant Perlman syndrome [RCV001035855] Chr2:232333855 [GRCh38]
Chr2:233198565 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.209A>G (p.Gln70Arg) single nucleotide variant Perlman syndrome [RCV001060774] Chr2:232015670 [GRCh38]
Chr2:232880380 [GRCh37]
Chr2:2q37.1		 pathogenic|uncertain significance
NM_152383.5(DIS3L2):c.823G>A (p.Val275Met) single nucleotide variant Perlman syndrome [RCV001072030] Chr2:232136592 [GRCh38]
Chr2:233001302 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.796G>A (p.Ala266Thr) single nucleotide variant Perlman syndrome [RCV001042390] Chr2:232136565 [GRCh38]
Chr2:233001275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1345T>C (p.Cys449Arg) single nucleotide variant Perlman syndrome [RCV001038826] Chr2:232249266 [GRCh38]
Chr2:233113976 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1687G>A (p.Glu563Lys) single nucleotide variant Perlman syndrome [RCV001061111] Chr2:232300067 [GRCh38]
Chr2:233164777 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.275G>T (p.Arg92Leu) single nucleotide variant Perlman syndrome [RCV001213044] Chr2:232029989 [GRCh38]
Chr2:232894699 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.649A>G (p.Ile217Val) single nucleotide variant Perlman syndrome [RCV001039108] Chr2:232130666 [GRCh38]
Chr2:232995376 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1609A>C (p.Lys537Gln) single nucleotide variant Perlman syndrome [RCV001217919] Chr2:232263390 [GRCh38]
Chr2:233128100 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.324G>T (p.Gly108=) single nucleotide variant Perlman syndrome [RCV001220058] Chr2:232030038 [GRCh38]
Chr2:232894748 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.-95C>T single nucleotide variant Perlman syndrome [RCV001137630] Chr2:231961764 [GRCh38]
Chr2:232826474 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.-78C>T single nucleotide variant Perlman syndrome [RCV001137631]|not provided [RCV004711524] Chr2:232014850 [GRCh38]
Chr2:232879560 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2653A>C (p.Ser885Arg) single nucleotide variant Perlman syndrome [RCV001231207] Chr2:232336625 [GRCh38]
Chr2:233201335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1337G>C (p.Arg446Thr) single nucleotide variant Perlman syndrome [RCV001137748] Chr2:232249258 [GRCh38]
Chr2:233113968 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1618C>A (p.Arg540Ser) single nucleotide variant Perlman syndrome [RCV001231510] Chr2:232263399 [GRCh38]
Chr2:233128109 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2654G>A (p.Ser885Asn) single nucleotide variant Perlman syndrome [RCV001054032] Chr2:232336626 [GRCh38]
Chr2:233201336 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2096T>A (p.Phe699Tyr) single nucleotide variant Perlman syndrome [RCV001039889] Chr2:232333925 [GRCh38]
Chr2:233198635 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.799C>G (p.Leu267Val) single nucleotide variant Perlman syndrome [RCV001248109] Chr2:232136568 [GRCh38]
Chr2:233001278 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1529C>T (p.Ala510Val) single nucleotide variant Perlman syndrome [RCV001058391] Chr2:232263310 [GRCh38]
Chr2:233128020 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.549A>C (p.Gln183His) single nucleotide variant Perlman syndrome [RCV001206159] Chr2:232087669 [GRCh38]
Chr2:232952379 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1057G>A (p.Glu353Lys) single nucleotide variant Perlman syndrome [RCV001207897] Chr2:232163565 [GRCh38]
Chr2:233028275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.926A>G (p.Lys309Arg) single nucleotide variant Perlman syndrome [RCV001206842] Chr2:232136695 [GRCh38]
Chr2:233001405 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2041C>T (p.Gln681Ter) single nucleotide variant Perlman syndrome [RCV001037679] Chr2:232333870 [GRCh38]
Chr2:233198580 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1027GATTTCTCT[1] (p.343DFS[1]) microsatellite Perlman syndrome [RCV001040328] Chr2:232163535..232163543 [GRCh38]
Chr2:233028245..233028253 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1659+5del deletion Perlman syndrome [RCV001058767] Chr2:232263445 [GRCh38]
Chr2:233128155 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.636T>G (p.Asp212Glu) single nucleotide variant Perlman syndrome [RCV001058840] Chr2:232130653 [GRCh38]
Chr2:232995363 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1087A>T (p.Ile363Phe) single nucleotide variant Perlman syndrome [RCV001216211] Chr2:232163595 [GRCh38]
Chr2:233028305 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1426A>G (p.Ile476Val) single nucleotide variant Perlman syndrome [RCV001217474] Chr2:232263207 [GRCh38]
Chr2:233127917 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1336A>G (p.Arg446Gly) single nucleotide variant Perlman syndrome [RCV001214832] Chr2:232249257 [GRCh38]
Chr2:233113967 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.541dup (p.Ile181fs) duplication Perlman syndrome [RCV001214904] Chr2:232087660..232087661 [GRCh38]
Chr2:232952370..232952371 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1740-1G>C single nucleotide variant Perlman syndrome [RCV001052084] Chr2:232329812 [GRCh38]
Chr2:233194522 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1731G>C (p.Glu577Asp) single nucleotide variant Perlman syndrome [RCV001139984] Chr2:232300111 [GRCh38]
Chr2:233164821 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*72C>T single nucleotide variant Perlman syndrome [RCV001140102] Chr2:232336702 [GRCh38]
Chr2:233201412 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.104A>G (p.Lys35Arg) single nucleotide variant Perlman syndrome [RCV001232791] Chr2:232015565 [GRCh38]
Chr2:232880275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1864G>A (p.Val622Met) single nucleotide variant Perlman syndrome [RCV001235305] Chr2:232329937 [GRCh38]
Chr2:233194647 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1327A>T (p.Met443Leu) single nucleotide variant Perlman syndrome [RCV001218430] Chr2:232249248 [GRCh38]
Chr2:233113958 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1736A>G (p.Asn579Ser) single nucleotide variant Perlman syndrome [RCV001040761] Chr2:232300116 [GRCh38]
Chr2:233164826 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2149G>A (p.Ala717Thr) single nucleotide variant Perlman syndrome [RCV001059375] Chr2:232333978 [GRCh38]
Chr2:233198688 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.476A>G (p.Asn159Ser) single nucleotide variant Perlman syndrome [RCV001205500] Chr2:232087596 [GRCh38]
Chr2:232952306 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2214C>G (p.His738Gln) single nucleotide variant Perlman syndrome [RCV001052413] Chr2:232334424 [GRCh38]
Chr2:233199134 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2540A>G (p.Glu847Gly) single nucleotide variant Perlman syndrome [RCV001040955]|not provided [RCV001772225] Chr2:232336512 [GRCh38]
Chr2:233201222 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.613G>A (p.Gly205Ser) single nucleotide variant Perlman syndrome [RCV001140636] Chr2:232130630 [GRCh38]
Chr2:232995340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2248C>G (p.Gln750Glu) single nucleotide variant Perlman syndrome [RCV001236418] Chr2:232334458 [GRCh38]
Chr2:233199168 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.635A>G (p.Asp212Gly) single nucleotide variant Perlman syndrome [RCV001236479] Chr2:232130652 [GRCh38]
Chr2:232995362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2350G>A (p.Val784Met) single nucleotide variant Perlman syndrome [RCV001055569] Chr2:232334691 [GRCh38]
Chr2:233199401 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1433A>G (p.Asp478Gly) single nucleotide variant Perlman syndrome [RCV001055598] Chr2:232263214 [GRCh38]
Chr2:233127924 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1217T>C (p.Val406Ala) single nucleotide variant Perlman syndrome [RCV001231745] Chr2:232238545 [GRCh38]
Chr2:233103255 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2311G>A (p.Glu771Lys) single nucleotide variant Perlman syndrome [RCV001053856] Chr2:232334652 [GRCh38]
Chr2:233199362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2323A>G (p.Met775Val) single nucleotide variant Perlman syndrome [RCV001246109] Chr2:232334664 [GRCh38]
Chr2:233199374 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2612A>T (p.Glu871Val) single nucleotide variant Perlman syndrome [RCV001229864] Chr2:232336584 [GRCh38]
Chr2:233201294 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1983del (p.Thr662fs) deletion Perlman syndrome [RCV001229869] Chr2:232330749 [GRCh38]
Chr2:233195459 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.838G>C (p.Val280Leu) single nucleotide variant Perlman syndrome [RCV001064431] Chr2:232136607 [GRCh38]
Chr2:233001317 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_152383.5(DIS3L2):c.1659+6T>A single nucleotide variant Perlman syndrome [RCV001139983] Chr2:232263446 [GRCh38]
Chr2:233128156 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*63C>T single nucleotide variant Perlman syndrome [RCV001140101] Chr2:232336693 [GRCh38]
Chr2:233201403 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1261T>A (p.Ser421Thr) single nucleotide variant Perlman syndrome [RCV001050558] Chr2:232238589 [GRCh38]
Chr2:233103299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.52G>A (p.Gly18Ser) single nucleotide variant Perlman syndrome [RCV001050936] Chr2:232014979 [GRCh38]
Chr2:232879689 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*314A>T single nucleotide variant Perlman syndrome [RCV001140864]|not provided [RCV001545676] Chr2:232336944 [GRCh38]
Chr2:233201654 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1318-10C>G single nucleotide variant Perlman syndrome [RCV001055396] Chr2:232249229 [GRCh38]
Chr2:233113939 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.248C>A (p.Ala83Asp) single nucleotide variant Perlman syndrome [RCV001230488] Chr2:232024314 [GRCh38]
Chr2:232889024 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2620del (p.Glu874fs) deletion Perlman syndrome [RCV001055834] Chr2:232336591 [GRCh38]
Chr2:233201301 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.227A>T (p.Asn76Ile) single nucleotide variant Perlman syndrome [RCV001041540] Chr2:232024293 [GRCh38]
Chr2:232889003 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.311G>C (p.Arg104Thr) single nucleotide variant Perlman syndrome [RCV001215286] Chr2:232030025 [GRCh38]
Chr2:232894735 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2537C>T (p.Ala846Val) single nucleotide variant Perlman syndrome [RCV001215397] Chr2:232336509 [GRCh38]
Chr2:233201219 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.140A>G (p.Lys47Arg) single nucleotide variant Perlman syndrome [RCV001051830] Chr2:232015601 [GRCh38]
Chr2:232880311 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.544A>G (p.Thr182Ala) single nucleotide variant Perlman syndrome [RCV001041785] Chr2:232087664 [GRCh38]
Chr2:232952374 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2228G>A (p.Arg743His) single nucleotide variant Perlman syndrome [RCV001248656] Chr2:232334438 [GRCh38]
Chr2:233199148 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1205-6T>G single nucleotide variant Perlman syndrome [RCV001204814] Chr2:232238527 [GRCh38]
Chr2:233103237 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.980G>C (p.Gly327Ala) single nucleotide variant Perlman syndrome [RCV001233580] Chr2:232163488 [GRCh38]
Chr2:233028198 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*18C>T single nucleotide variant Perlman syndrome [RCV001137850] Chr2:232336648 [GRCh38]
Chr2:233201358 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.829A>G (p.Arg277Gly) single nucleotide variant Perlman syndrome [RCV001062520] Chr2:232136598 [GRCh38]
Chr2:233001308 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.598A>G (p.Lys200Glu) single nucleotide variant Perlman syndrome [RCV001062544] Chr2:232087718 [GRCh38]
Chr2:232952428 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.388G>A (p.Asp130Asn) single nucleotide variant Perlman syndrome [RCV001062649] Chr2:232087508 [GRCh38]
Chr2:232952218 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2178C>A (p.Asp726Glu) single nucleotide variant DIS3L2-related disorder [RCV003405419]|Perlman syndrome [RCV001229395] Chr2:232334388 [GRCh38]
Chr2:233199098 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2257A>G (p.Ser753Gly) single nucleotide variant Perlman syndrome [RCV001042175] Chr2:232334467 [GRCh38]
Chr2:233199177 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.221G>A (p.Arg74Lys) single nucleotide variant Perlman syndrome [RCV001139853] Chr2:232024287 [GRCh38]
Chr2:232888997 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1462T>C (p.Ser488Pro) single nucleotide variant Perlman syndrome [RCV001048267] Chr2:232263243 [GRCh38]
Chr2:233127953 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.745G>A (p.Gly249Ser) single nucleotide variant Perlman syndrome [RCV001215133] Chr2:232136514 [GRCh38]
Chr2:233001224 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*113T>G single nucleotide variant Perlman syndrome [RCV001140105]|not provided [RCV001554891] Chr2:232336743 [GRCh38]
Chr2:233201453 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1573del (p.Val525fs) deletion Perlman syndrome [RCV001053079] Chr2:232263353 [GRCh38]
Chr2:233128063 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2251G>A (p.Glu751Lys) single nucleotide variant Perlman syndrome [RCV001057176] Chr2:232334461 [GRCh38]
Chr2:233199171 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2587C>T (p.Gln863Ter) single nucleotide variant Perlman syndrome [RCV001042930] Chr2:232336559 [GRCh38]
Chr2:233201269 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1856G>A (p.Ser619Asn) single nucleotide variant Perlman syndrome [RCV001140739] Chr2:232329929 [GRCh38]
Chr2:233194639 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1832C>G (p.Pro611Arg) single nucleotide variant Perlman syndrome [RCV001228913] Chr2:232329905 [GRCh38]
Chr2:233194615 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1546A>G (p.Ile516Val) single nucleotide variant Perlman syndrome [RCV001228927] Chr2:232263327 [GRCh38]
Chr2:233128037 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2240A>G (p.Lys747Arg) single nucleotide variant Inborn genetic diseases [RCV003346279]|Perlman syndrome [RCV001049075] Chr2:232334450 [GRCh38]
Chr2:233199160 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1042T>C (p.Ser348Pro) single nucleotide variant Perlman syndrome [RCV001053572] Chr2:232163550 [GRCh38]
Chr2:233028260 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2224C>T (p.Arg742Cys) single nucleotide variant Inborn genetic diseases [RCV002561842]|Perlman syndrome [RCV001214221] Chr2:232334434 [GRCh38]
Chr2:233199144 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1271A>C (p.Asp424Ala) single nucleotide variant Perlman syndrome [RCV001228287] Chr2:232238599 [GRCh38]
Chr2:233103309 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2621_2622del (p.Glu874fs) deletion Perlman syndrome [RCV001907572] Chr2:232336592..232336593 [GRCh38]
Chr2:233201302..233201303 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.566G>A (p.Gly189Asp) single nucleotide variant Perlman syndrome [RCV001907653] Chr2:232087686 [GRCh38]
Chr2:232952396 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001257281.2(DIS3L2):c.1688G>A (p.Arg563Gln) single nucleotide variant Perlman syndrome [RCV001292956] Chr2:232343451 [GRCh38]
Chr2:233208161 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*11CCGCCTGCC[2] microsatellite Perlman syndrome [RCV001261850]|not provided [RCV001357687] Chr2:232336641..232336649 [GRCh38]
Chr2:233201351..233201359 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_152383.5(DIS3L2):c.34C>A (p.Pro12Thr) single nucleotide variant Perlman syndrome [RCV001302804] Chr2:232014961 [GRCh38]
Chr2:232879671 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-77C>T single nucleotide variant not provided [RCV001549439] Chr2:232329736 [GRCh38]
Chr2:233194446 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.464T>C (p.Leu155Pro) single nucleotide variant Perlman syndrome [RCV001318879] Chr2:232087584 [GRCh38]
Chr2:232952294 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2618A>C (p.Glu873Ala) single nucleotide variant Perlman syndrome [RCV001298564] Chr2:232336590 [GRCh38]
Chr2:233201300 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233113939)_(233114066_?)dup duplication Perlman syndrome [RCV001301442] Chr2:233113939..233114066 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233200473)_(233201340_?)dup duplication Perlman syndrome [RCV001301444] Chr2:233200473..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.59C>G (p.Ser20Cys) single nucleotide variant Perlman syndrome [RCV001320107] Chr2:232015520 [GRCh38]
Chr2:232880230 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2478G>T (p.Glu826Asp) single nucleotide variant Perlman syndrome [RCV001314349] Chr2:232335856 [GRCh38]
Chr2:233200566 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.484C>T (p.Pro162Ser) single nucleotide variant Perlman syndrome [RCV001301573] Chr2:232087604 [GRCh38]
Chr2:232952314 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1210T>A (p.Phe404Ile) single nucleotide variant Inborn genetic diseases [RCV003346439]|Perlman syndrome [RCV001300992] Chr2:232238538 [GRCh38]
Chr2:233103248 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1504G>A (p.Glu502Lys) single nucleotide variant Perlman syndrome [RCV001295982] Chr2:232263285 [GRCh38]
Chr2:233127995 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2138G>A (p.Arg713His) single nucleotide variant Perlman syndrome [RCV001339123] Chr2:232333967 [GRCh38]
Chr2:233198677 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.370G>T (p.Val124Phe) single nucleotide variant Perlman syndrome [RCV001301087] Chr2:232087490 [GRCh38]
Chr2:232952200 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1456A>G (p.Ile486Val) single nucleotide variant Perlman syndrome [RCV001325269] Chr2:232263237 [GRCh38]
Chr2:233127947 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1313A>G (p.Gln438Arg) single nucleotide variant Perlman syndrome [RCV001319767] Chr2:232238641 [GRCh38]
Chr2:233103351 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1069C>G (p.Gln357Glu) single nucleotide variant Perlman syndrome [RCV001298192] Chr2:232163577 [GRCh38]
Chr2:233028287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.80A>G (p.Asp27Gly) single nucleotide variant Perlman syndrome [RCV001308551] Chr2:232015541 [GRCh38]
Chr2:232880251 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2129T>C (p.Leu710Pro) single nucleotide variant Perlman syndrome [RCV001298349] Chr2:232333958 [GRCh38]
Chr2:233198668 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2650A>G (p.Thr884Ala) single nucleotide variant Perlman syndrome [RCV001306482] Chr2:232336622 [GRCh38]
Chr2:233201332 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.52+3A>G single nucleotide variant Perlman syndrome [RCV001308661] Chr2:232014982 [GRCh38]
Chr2:232879692 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2276C>T (p.Ala759Val) single nucleotide variant Perlman syndrome [RCV001309475] Chr2:232334486 [GRCh38]
Chr2:233199196 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.313G>A (p.Ala105Thr) single nucleotide variant Perlman syndrome [RCV001299356] Chr2:232030027 [GRCh38]
Chr2:232894737 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.112A>G (p.Lys38Glu) single nucleotide variant Perlman syndrome [RCV001313515] Chr2:232015573 [GRCh38]
Chr2:232880283 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.243T>G (p.His81Gln) single nucleotide variant Perlman syndrome [RCV001304197] Chr2:232024309 [GRCh38]
Chr2:232889019 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.11C>G (p.Pro4Arg) single nucleotide variant Perlman syndrome [RCV001352287] Chr2:232014938 [GRCh38]
Chr2:232879648 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2427G>C (p.Lys809Asn) single nucleotide variant Perlman syndrome [RCV001320725] Chr2:232335805 [GRCh38]
Chr2:233200515 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1922A>C (p.Asn641Thr) single nucleotide variant Perlman syndrome [RCV001295535] Chr2:232329995 [GRCh38]
Chr2:233194705 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.74C>G (p.Pro25Arg) single nucleotide variant Perlman syndrome [RCV001302404] Chr2:232015535 [GRCh38]
Chr2:232880245 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.247G>T (p.Ala83Ser) single nucleotide variant Perlman syndrome [RCV001294439] Chr2:232024313 [GRCh38]
Chr2:232889023 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1353G>C (p.Glu451Asp) single nucleotide variant Perlman syndrome [RCV001313681] Chr2:232249274 [GRCh38]
Chr2:233113984 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1834C>T (p.Pro612Ser) single nucleotide variant Perlman syndrome [RCV001319358] Chr2:232329907 [GRCh38]
Chr2:233194617 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1513A>G (p.Thr505Ala) single nucleotide variant Perlman syndrome [RCV001300921] Chr2:232263294 [GRCh38]
Chr2:233128004 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.986T>C (p.Ile329Thr) single nucleotide variant Perlman syndrome [RCV001326417] Chr2:232163494 [GRCh38]
Chr2:233028204 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.458A>G (p.Gln153Arg) single nucleotide variant Perlman syndrome [RCV001361315] Chr2:232087578 [GRCh38]
Chr2:232952288 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.664A>G (p.Arg222Gly) single nucleotide variant Perlman syndrome [RCV001317219] Chr2:232130681 [GRCh38]
Chr2:232995391 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2431G>A (p.Gly811Ser) single nucleotide variant Perlman syndrome [RCV001304767] Chr2:232335809 [GRCh38]
Chr2:233200519 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.945C>A (p.Ala315=) single nucleotide variant Perlman syndrome [RCV001392843] Chr2:232136714 [GRCh38]
Chr2:233001424 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.367-7_367-3del deletion Perlman syndrome [RCV001361590] Chr2:232087477..232087481 [GRCh38]
Chr2:232952187..232952191 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1642G>A (p.Ala548Thr) single nucleotide variant Perlman syndrome [RCV001372715] Chr2:232263423 [GRCh38]
Chr2:233128133 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2573A>C (p.Lys858Thr) single nucleotide variant Perlman syndrome [RCV001305456] Chr2:232336545 [GRCh38]
Chr2:233201255 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1921A>G (p.Asn641Asp) single nucleotide variant Perlman syndrome [RCV001296166] Chr2:232329994 [GRCh38]
Chr2:233194704 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.695C>G (p.Ser232Ter) single nucleotide variant Perlman syndrome [RCV001382451] Chr2:232130712 [GRCh38]
Chr2:232995422 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2122G>A (p.Asp708Asn) single nucleotide variant Perlman syndrome [RCV001307594] Chr2:232333951 [GRCh38]
Chr2:233198661 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1955A>G (p.Lys652Arg) single nucleotide variant Perlman syndrome [RCV001368802] Chr2:232330721 [GRCh38]
Chr2:233195431 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.171G>A (p.Glu57=) single nucleotide variant Perlman syndrome [RCV001422376] Chr2:232015632 [GRCh38]
Chr2:232880342 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1670C>T (p.Ala557Val) single nucleotide variant Perlman syndrome [RCV001307773] Chr2:232300050 [GRCh38]
Chr2:233164760 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2290-4G>A single nucleotide variant DIS3L2-related disorder [RCV003963313]|Perlman syndrome [RCV001414796] Chr2:232334627 [GRCh38]
Chr2:233199337 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2023T>C (p.Phe675Leu) single nucleotide variant Perlman syndrome [RCV001359930] Chr2:232333852 [GRCh38]
Chr2:233198562 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2103G>C (p.Ser701=) single nucleotide variant Perlman syndrome [RCV001397467]|not provided [RCV004711581] Chr2:232333932 [GRCh38]
Chr2:233198642 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.547C>A (p.Gln183Lys) single nucleotide variant Perlman syndrome [RCV001349747] Chr2:232087667 [GRCh38]
Chr2:232952377 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2195T>G (p.Leu732Arg) single nucleotide variant Perlman syndrome [RCV001304332] Chr2:232334405 [GRCh38]
Chr2:233199115 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2127C>T (p.Val709=) single nucleotide variant Perlman syndrome [RCV001396154] Chr2:232333956 [GRCh38]
Chr2:233198666 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1545C>G (p.Pro515=) single nucleotide variant Perlman syndrome [RCV001397061] Chr2:232263326 [GRCh38]
Chr2:233128036 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1427T>G (p.Ile476Ser) single nucleotide variant Perlman syndrome [RCV001302959] Chr2:232263208 [GRCh38]
Chr2:233127918 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.631A>G (p.Lys211Glu) single nucleotide variant Perlman syndrome [RCV001370656] Chr2:232130648 [GRCh38]
Chr2:232995358 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.602-9T>G single nucleotide variant Perlman syndrome [RCV001433949] Chr2:232130610 [GRCh38]
Chr2:232995320 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1005A>C (p.Gly335=) single nucleotide variant Perlman syndrome [RCV001397525] Chr2:232163513 [GRCh38]
Chr2:233028223 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1561A>G (p.Ser521Gly) single nucleotide variant Perlman syndrome [RCV001313438] Chr2:232263342 [GRCh38]
Chr2:233128052 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.842C>A (p.Pro281His) single nucleotide variant Perlman syndrome [RCV001373486] Chr2:232136611 [GRCh38]
Chr2:233001321 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2449dup (p.Thr817fs) duplication Perlman syndrome [RCV001294915] Chr2:232335826..232335827 [GRCh38]
Chr2:233200536..233200537 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.678G>A (p.Glu226=) single nucleotide variant Perlman syndrome [RCV001414252] Chr2:232130695 [GRCh38]
Chr2:232995405 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2265T>G (p.Ser755Arg) single nucleotide variant Perlman syndrome [RCV001351782] Chr2:232334475 [GRCh38]
Chr2:233199185 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1993T>A (p.Cys665Ser) single nucleotide variant Perlman syndrome [RCV001306492] Chr2:232330759 [GRCh38]
Chr2:233195469 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.734G>C (p.Arg245Pro) single nucleotide variant Perlman syndrome [RCV001362213] Chr2:232136503 [GRCh38]
Chr2:233001213 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.367G>A (p.Val123Ile) single nucleotide variant Perlman syndrome [RCV001373923] Chr2:232087487 [GRCh38]
Chr2:232952197 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.856C>T (p.Pro286Ser) single nucleotide variant Perlman syndrome [RCV001341826] Chr2:232136625 [GRCh38]
Chr2:233001335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2290-7C>G single nucleotide variant Perlman syndrome [RCV001368677] Chr2:232334624 [GRCh38]
Chr2:233199334 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1613A>G (p.Gln538Arg) single nucleotide variant Perlman syndrome [RCV001364646] Chr2:232263394 [GRCh38]
Chr2:233128104 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233194513)_(233201340_?)dup duplication Perlman syndrome [RCV001301443] Chr2:233194513..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2426A>C (p.Lys809Thr) single nucleotide variant Perlman syndrome [RCV001368355] Chr2:232335804 [GRCh38]
Chr2:233200514 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.487G>C (p.Asp163His) single nucleotide variant Perlman syndrome [RCV001364809] Chr2:232087607 [GRCh38]
Chr2:232952317 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.986T>A (p.Ile329Asn) single nucleotide variant Perlman syndrome [RCV001339777] Chr2:232163494 [GRCh38]
Chr2:233028204 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1453A>G (p.Ile485Val) single nucleotide variant Perlman syndrome [RCV001299979] Chr2:232263234 [GRCh38]
Chr2:233127944 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.56T>G (p.Val19Gly) single nucleotide variant Inborn genetic diseases [RCV004036206]|Perlman syndrome [RCV001301467] Chr2:232015517 [GRCh38]
Chr2:232880227 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2383A>G (p.Ile795Val) single nucleotide variant Perlman syndrome [RCV001322928] Chr2:232334724 [GRCh38]
Chr2:233199434 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2069C>T (p.Ala690Val) single nucleotide variant Perlman syndrome [RCV001369513] Chr2:232333898 [GRCh38]
Chr2:233198608 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2450C>G (p.Thr817Arg) single nucleotide variant Perlman syndrome [RCV001301591] Chr2:232335828 [GRCh38]
Chr2:233200538 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1816C>G (p.Leu606Val) single nucleotide variant Perlman syndrome [RCV001321790] Chr2:232329889 [GRCh38]
Chr2:233194599 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.359A>T (p.His120Leu) single nucleotide variant Perlman syndrome [RCV001345831] Chr2:232030073 [GRCh38]
Chr2:232894783 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2148T>A (p.Ala716=) single nucleotide variant Perlman syndrome [RCV001346686] Chr2:232333977 [GRCh38]
Chr2:233198687 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2221G>A (p.Asp741Asn) single nucleotide variant Inborn genetic diseases [RCV004036928]|Perlman syndrome [RCV001364988] Chr2:232334431 [GRCh38]
Chr2:233199141 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1244A>G (p.Tyr415Cys) single nucleotide variant Perlman syndrome [RCV001365091] Chr2:232238572 [GRCh38]
Chr2:233103282 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.342A>T (p.Lys114Asn) single nucleotide variant Perlman syndrome [RCV001365115] Chr2:232030056 [GRCh38]
Chr2:232894766 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.634G>T (p.Asp212Tyr) single nucleotide variant Perlman syndrome [RCV001294389] Chr2:232130651 [GRCh38]
Chr2:232995361 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2530C>G (p.Leu844Val) single nucleotide variant Perlman syndrome [RCV001318817] Chr2:232336502 [GRCh38]
Chr2:233201212 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1676C>T (p.Thr559Ile) single nucleotide variant Perlman syndrome [RCV001321988] Chr2:232300056 [GRCh38]
Chr2:233164766 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.377C>T (p.Pro126Leu) single nucleotide variant Perlman syndrome [RCV001365198] Chr2:232087497 [GRCh38]
Chr2:232952207 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1921A>T (p.Asn641Tyr) single nucleotide variant Perlman syndrome [RCV001294552] Chr2:232329994 [GRCh38]
Chr2:233194704 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-10C>A single nucleotide variant Perlman syndrome [RCV001340971] Chr2:232334359 [GRCh38]
Chr2:233199069 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.584T>C (p.Val195Ala) single nucleotide variant Perlman syndrome [RCV001340992] Chr2:232087704 [GRCh38]
Chr2:232952414 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.137A>G (p.Lys46Arg) single nucleotide variant Perlman syndrome [RCV001342393] Chr2:232015598 [GRCh38]
Chr2:232880308 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1984A>T (p.Thr662Ser) single nucleotide variant Perlman syndrome [RCV001322028] Chr2:232330750 [GRCh38]
Chr2:233195460 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.482G>A (p.Ser161Asn) single nucleotide variant Perlman syndrome [RCV001367535] Chr2:232087602 [GRCh38]
Chr2:232952312 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1207A>T (p.Asn403Tyr) single nucleotide variant Perlman syndrome [RCV001347239] Chr2:232238535 [GRCh38]
Chr2:233103245 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2011-135G>A single nucleotide variant not provided [RCV002284685] Chr2:232333705 [GRCh38]
Chr2:233198415 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.921C>G (p.Asp307Glu) single nucleotide variant Perlman syndrome [RCV001298294] Chr2:232136690 [GRCh38]
Chr2:233001400 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.490G>A (p.Val164Ile) single nucleotide variant Perlman syndrome [RCV001352396] Chr2:232087610 [GRCh38]
Chr2:232952320 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1528G>A (p.Ala510Thr) single nucleotide variant Perlman syndrome [RCV001324358] Chr2:232263309 [GRCh38]
Chr2:233128019 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2381G>T (p.Arg794Leu) single nucleotide variant Perlman syndrome [RCV001324393] Chr2:232334722 [GRCh38]
Chr2:233199432 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1414C>G (p.Pro472Ala) single nucleotide variant Perlman syndrome [RCV001346259] Chr2:232249335 [GRCh38]
Chr2:233114045 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2575C>T (p.Arg859Trp) single nucleotide variant Perlman syndrome [RCV001347443] Chr2:232336547 [GRCh38]
Chr2:233201257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1789A>G (p.Ile597Val) single nucleotide variant Perlman syndrome [RCV001347472] Chr2:232329862 [GRCh38]
Chr2:233194572 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1577A>C (p.His526Pro) single nucleotide variant Perlman syndrome [RCV001347507] Chr2:232263358 [GRCh38]
Chr2:233128068 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2058C>G (p.Phe686Leu) single nucleotide variant Perlman syndrome [RCV001369583] Chr2:232333887 [GRCh38]
Chr2:233198597 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.496G>C (p.Val166Leu) single nucleotide variant Perlman syndrome [RCV001369856] Chr2:232087616 [GRCh38]
Chr2:232952326 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1940C>T (p.Thr647Ile) single nucleotide variant Perlman syndrome [RCV001322327] Chr2:232330706 [GRCh38]
Chr2:233195416 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1496G>T (p.Ser499Ile) single nucleotide variant Perlman syndrome [RCV001323401] Chr2:232263277 [GRCh38]
Chr2:233127987 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2189A>G (p.Asp730Gly) single nucleotide variant Perlman syndrome [RCV001295375] Chr2:232334399 [GRCh38]
Chr2:233199109 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2153C>A (p.Ala718Glu) single nucleotide variant Perlman syndrome [RCV001341369] Chr2:232333982 [GRCh38]
Chr2:233198692 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.189G>T (p.Leu63Phe) single nucleotide variant Perlman syndrome [RCV001347702] Chr2:232015650 [GRCh38]
Chr2:232880360 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.787A>G (p.Arg263Gly) single nucleotide variant Perlman syndrome [RCV001372833] Chr2:232136556 [GRCh38]
Chr2:233001266 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1543C>A (p.Pro515Thr) single nucleotide variant Perlman syndrome [RCV001296518] Chr2:232263324 [GRCh38]
Chr2:233128034 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.454C>G (p.Gln152Glu) single nucleotide variant Perlman syndrome [RCV001308991] Chr2:232087574 [GRCh38]
Chr2:232952284 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2224C>G (p.Arg742Gly) single nucleotide variant Perlman syndrome [RCV001300851] Chr2:232334434 [GRCh38]
Chr2:233199144 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.641C>A (p.Thr214Asn) single nucleotide variant Perlman syndrome [RCV001321022] Chr2:232130658 [GRCh38]
Chr2:232995368 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2476G>A (p.Glu826Lys) single nucleotide variant Perlman syndrome [RCV001321069] Chr2:232335854 [GRCh38]
Chr2:233200564 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2437A>G (p.Lys813Glu) single nucleotide variant Perlman syndrome [RCV001323494] Chr2:232335815 [GRCh38]
Chr2:233200525 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1739+6C>T single nucleotide variant Perlman syndrome [RCV001370704] Chr2:232300125 [GRCh38]
Chr2:233164835 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2018T>C (p.Leu673Pro) single nucleotide variant Perlman syndrome [RCV001326001] Chr2:232333847 [GRCh38]
Chr2:233198557 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233127907)_(233128160_?)dup duplication Perlman syndrome [RCV001315255] Chr2:233127907..233128160 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233198540)_(233201340_?)dup duplication Perlman syndrome [RCV001315256] Chr2:233198540..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.274C>G (p.Arg92Gly) single nucleotide variant Perlman syndrome [RCV001319638] Chr2:232029988 [GRCh38]
Chr2:232894698 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.28C>T (p.Leu10Phe) single nucleotide variant Perlman syndrome [RCV001304685] Chr2:232014955 [GRCh38]
Chr2:232879665 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1602A>T (p.Gly534=) single nucleotide variant Perlman syndrome [RCV001364412] Chr2:232263383 [GRCh38]
Chr2:233128093 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.727C>A (p.His243Asn) single nucleotide variant Perlman syndrome [RCV001373441] Chr2:232136496 [GRCh38]
Chr2:233001206 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.573_575del (p.Lys192del) deletion Perlman syndrome [RCV001363979] Chr2:232087691..232087693 [GRCh38]
Chr2:232952401..232952403 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1105A>C (p.Ser369Arg) single nucleotide variant Perlman syndrome [RCV001337605] Chr2:232163613 [GRCh38]
Chr2:233028323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1747GAG[1] (p.Glu584del) microsatellite Perlman syndrome [RCV001366316] Chr2:232329819..232329821 [GRCh38]
Chr2:233194529..233194531 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2447_2450dup (p.Leu818fs) duplication Perlman syndrome [RCV001309025] Chr2:232335822..232335823 [GRCh38]
Chr2:233200532..233200533 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2328C>T (p.Gly776=) single nucleotide variant Perlman syndrome [RCV001366380] Chr2:232334669 [GRCh38]
Chr2:233199379 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.734G>A (p.Arg245Gln) single nucleotide variant Perlman syndrome [RCV001326402] Chr2:232136503 [GRCh38]
Chr2:233001213 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.485C>G (p.Pro162Arg) single nucleotide variant Perlman syndrome [RCV001359422] Chr2:232087605 [GRCh38]
Chr2:232952315 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.946C>G (p.Leu316Val) single nucleotide variant Inborn genetic diseases [RCV002546057]|Perlman syndrome [RCV001318233] Chr2:232136715 [GRCh38]
Chr2:233001425 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1327A>G (p.Met443Val) single nucleotide variant Perlman syndrome [RCV001360371] Chr2:232249248 [GRCh38]
Chr2:233113958 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.729T>C (p.His243=) single nucleotide variant Perlman syndrome [RCV001413912]|not provided [RCV003433147] Chr2:232136498 [GRCh38]
Chr2:233001208 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.875G>A (p.Arg292Gln) single nucleotide variant Perlman syndrome [RCV001295599] Chr2:232136644 [GRCh38]
Chr2:233001354 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.951-3T>C single nucleotide variant Perlman syndrome [RCV001296188] Chr2:232163456 [GRCh38]
Chr2:233028166 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1784A>G (p.His595Arg) single nucleotide variant Inborn genetic diseases [RCV003355382]|Perlman syndrome [RCV001315648] Chr2:232329857 [GRCh38]
Chr2:233194567 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1212C>G (p.Phe404Leu) single nucleotide variant Perlman syndrome [RCV001360419] Chr2:232238540 [GRCh38]
Chr2:233103250 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2013G>T (p.Met671Ile) single nucleotide variant Perlman syndrome [RCV001371493] Chr2:232333842 [GRCh38]
Chr2:233198552 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.354G>A (p.Glu118=) single nucleotide variant Perlman syndrome [RCV001421832] Chr2:232030068 [GRCh38]
Chr2:232894778 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2230A>G (p.Met744Val) single nucleotide variant Perlman syndrome [RCV001306624] Chr2:232334440 [GRCh38]
Chr2:233199150 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2342C>G (p.Ala781Gly) single nucleotide variant Perlman syndrome [RCV001307264] Chr2:232334683 [GRCh38]
Chr2:233199393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1067C>T (p.Pro356Leu) single nucleotide variant Perlman syndrome [RCV001340560] Chr2:232163575 [GRCh38]
Chr2:233028285 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.786T>C (p.Phe262=) single nucleotide variant Perlman syndrome [RCV001412698] Chr2:232136555 [GRCh38]
Chr2:233001265 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2225G>A (p.Arg742His) single nucleotide variant Perlman syndrome [RCV001368503] Chr2:232334435 [GRCh38]
Chr2:233199145 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233028159)_(233201340_?)dup duplication Perlman syndrome [RCV001315257] Chr2:233028159..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_232879638)_(232952441_?)dup duplication Perlman syndrome [RCV001360850] Chr2:232879638..232952441 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1204+6A>G single nucleotide variant Perlman syndrome [RCV001370029] Chr2:232210411 [GRCh38]
Chr2:233075121 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2389T>G (p.Cys797Gly) single nucleotide variant Perlman syndrome [RCV001315025] Chr2:232334730 [GRCh38]
Chr2:233199440 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2469G>A (p.Glu823=) single nucleotide variant Perlman syndrome [RCV001494207] Chr2:232335847 [GRCh38]
Chr2:233200557 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1712A>C (p.His571Pro) single nucleotide variant Perlman syndrome [RCV001312538] Chr2:232300092 [GRCh38]
Chr2:233164802 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1896G>A (p.Val632=) single nucleotide variant Perlman syndrome [RCV001317097] Chr2:232329969 [GRCh38]
Chr2:233194679 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1601G>A (p.Gly534Glu) single nucleotide variant Perlman syndrome [RCV001372185] Chr2:232263382 [GRCh38]
Chr2:233128092 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.714C>T (p.Ile238=) single nucleotide variant Perlman syndrome [RCV001421722] Chr2:232136483 [GRCh38]
Chr2:233001193 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2217T>C (p.Cys739=) single nucleotide variant Perlman syndrome [RCV001395333] Chr2:232334427 [GRCh38]
Chr2:233199137 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1875C>T (p.Cys625=) single nucleotide variant Perlman syndrome [RCV001421944] Chr2:232329948 [GRCh38]
Chr2:233194658 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2242C>G (p.Arg748Gly) single nucleotide variant Perlman syndrome [RCV001337991] Chr2:232334452 [GRCh38]
Chr2:233199162 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.481A>G (p.Ser161Gly) single nucleotide variant Perlman syndrome [RCV001369520] Chr2:232087601 [GRCh38]
Chr2:232952311 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.143G>A (p.Ser48Asn) single nucleotide variant Perlman syndrome [RCV001359321] Chr2:232015604 [GRCh38]
Chr2:232880314 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.37C>A (p.Leu13Met) single nucleotide variant Perlman syndrome [RCV001365904] Chr2:232014964 [GRCh38]
Chr2:232879674 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2567T>C (p.Ile856Thr) single nucleotide variant Perlman syndrome [RCV001313728] Chr2:232336539 [GRCh38]
Chr2:233201249 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.320A>G (p.Asn107Ser) single nucleotide variant Perlman syndrome [RCV001294541] Chr2:232030034 [GRCh38]
Chr2:232894744 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2438_2446dup (p.Glu815_Leu816insGlnProGlu) duplication Perlman syndrome [RCV001294573] Chr2:232335815..232335816 [GRCh38]
Chr2:233200525..233200526 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1071A>G (p.Gln357=) single nucleotide variant Perlman syndrome [RCV001315927] Chr2:232163579 [GRCh38]
Chr2:233028289 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2626G>A (p.Asp876Asn) single nucleotide variant Perlman syndrome [RCV001299070] Chr2:232336598 [GRCh38]
Chr2:233201308 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.351C>G (p.Pro117=) single nucleotide variant Perlman syndrome [RCV001401957] Chr2:232030065 [GRCh38]
Chr2:232894775 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1815C>T (p.Ala605=) single nucleotide variant Perlman syndrome [RCV001475038] Chr2:232329888 [GRCh38]
Chr2:233194598 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1305C>T (p.Tyr435=) single nucleotide variant Perlman syndrome [RCV001464268] Chr2:232238633 [GRCh38]
Chr2:233103343 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1503T>C (p.Ile501=) single nucleotide variant Perlman syndrome [RCV001492286] Chr2:232263284 [GRCh38]
Chr2:233127994 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1893C>G (p.Pro631=) single nucleotide variant Perlman syndrome [RCV001492301] Chr2:232329966 [GRCh38]
Chr2:233194676 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2190T>C (p.Asp730=) single nucleotide variant Perlman syndrome [RCV001479249] Chr2:232334400 [GRCh38]
Chr2:233199110 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+9T>C single nucleotide variant Perlman syndrome [RCV001468292] Chr2:232249355 [GRCh38]
Chr2:233114065 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+7G>A single nucleotide variant Perlman syndrome [RCV001454912] Chr2:232130726 [GRCh38]
Chr2:232995436 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2290-4G>C single nucleotide variant DIS3L2-related disorder [RCV003908631]|Perlman syndrome [RCV001430487] Chr2:232334627 [GRCh38]
Chr2:233199337 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.127C>A (p.Arg43=) single nucleotide variant Perlman syndrome [RCV001478569] Chr2:232015588 [GRCh38]
Chr2:232880298 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.204C>T (p.Leu68=) single nucleotide variant Perlman syndrome [RCV001498791] Chr2:232015665 [GRCh38]
Chr2:232880375 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1971C>G (p.Arg657=) single nucleotide variant Perlman syndrome [RCV001498831] Chr2:232330737 [GRCh38]
Chr2:233195447 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.399A>G (p.Thr133=) single nucleotide variant Perlman syndrome [RCV001454206] Chr2:232087519 [GRCh38]
Chr2:232952229 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2115C>T (p.Arg705=) single nucleotide variant Perlman syndrome [RCV001462635] Chr2:232333944 [GRCh38]
Chr2:233198654 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-4A>C single nucleotide variant Perlman syndrome [RCV001441609] Chr2:232163455 [GRCh38]
Chr2:233028165 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-10C>T single nucleotide variant Perlman syndrome [RCV001492605] Chr2:232334359 [GRCh38]
Chr2:233199069 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.909C>T (p.Cys303=) single nucleotide variant Perlman syndrome [RCV001503488] Chr2:232136678 [GRCh38]
Chr2:233001388 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2175A>G (p.Leu725=) single nucleotide variant Perlman syndrome [RCV001417902] Chr2:232334385 [GRCh38]
Chr2:233199095 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-10G>T single nucleotide variant Perlman syndrome [RCV001402887] Chr2:232136462 [GRCh38]
Chr2:233001172 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2359C>T (p.Leu787=) single nucleotide variant Perlman syndrome [RCV001436821] Chr2:232334700 [GRCh38]
Chr2:233199410 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-5T>C single nucleotide variant Perlman syndrome [RCV001439285] Chr2:232249234 [GRCh38]
Chr2:233113944 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2166G>A (p.Arg722=) single nucleotide variant Perlman syndrome [RCV001462151] Chr2:232334376 [GRCh38]
Chr2:233199086 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1389C>A (p.Thr463=) single nucleotide variant Perlman syndrome [RCV001455476] Chr2:232249310 [GRCh38]
Chr2:233114020 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1776A>C (p.Ala592=) single nucleotide variant Perlman syndrome [RCV001477342] Chr2:232329849 [GRCh38]
Chr2:233194559 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1926A>G (p.Lys642=) single nucleotide variant Perlman syndrome [RCV001439667] Chr2:232330692 [GRCh38]
Chr2:233195402 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1545dup (p.Ile516fs) duplication Perlman syndrome [RCV001390588] Chr2:232263320..232263321 [GRCh38]
Chr2:233128030..233128031 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1542C>G (p.Pro514=) single nucleotide variant Perlman syndrome [RCV001471890] Chr2:232263323 [GRCh38]
Chr2:233128033 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.453G>T (p.Pro151=) single nucleotide variant Perlman syndrome [RCV001489191] Chr2:232087573 [GRCh38]
Chr2:232952283 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2472C>T (p.Asp824=) single nucleotide variant Perlman syndrome [RCV001434330] Chr2:232335850 [GRCh38]
Chr2:233200560 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2637C>G (p.Pro879=) single nucleotide variant Perlman syndrome [RCV001474536] Chr2:232336609 [GRCh38]
Chr2:233201319 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.114G>A (p.Lys38=) single nucleotide variant Perlman syndrome [RCV001492984] Chr2:232015575 [GRCh38]
Chr2:232880285 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-8A>G single nucleotide variant Perlman syndrome [RCV001493036] Chr2:232249231 [GRCh38]
Chr2:233113941 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2463G>A (p.Glu821=) single nucleotide variant Perlman syndrome [RCV001467262] Chr2:232335841 [GRCh38]
Chr2:233200551 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2535G>A (p.Gln845=) single nucleotide variant Perlman syndrome [RCV001463656] Chr2:232336507 [GRCh38]
Chr2:233201217 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.588T>C (p.Cys196=) single nucleotide variant Perlman syndrome [RCV001474765] Chr2:232087708 [GRCh38]
Chr2:232952418 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2301C>G (p.Pro767=) single nucleotide variant Perlman syndrome [RCV001470900] Chr2:232334642 [GRCh38]
Chr2:233199352 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2220C>T (p.Asn740=) single nucleotide variant Perlman syndrome [RCV001406355] Chr2:232334430 [GRCh38]
Chr2:233199140 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.973C>T (p.Gln325Ter) single nucleotide variant Perlman syndrome [RCV001381907] Chr2:232163481 [GRCh38]
Chr2:233028191 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2355G>A (p.Leu785=) single nucleotide variant Perlman syndrome [RCV001472684] Chr2:232334696 [GRCh38]
Chr2:233199406 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.777C>T (p.Ser259=) single nucleotide variant Perlman syndrome [RCV001472821] Chr2:232136546 [GRCh38]
Chr2:233001256 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1920C>T (p.Leu640=) single nucleotide variant Perlman syndrome [RCV001481858] Chr2:232329993 [GRCh38]
Chr2:233194703 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1284C>T (p.Ala428=) single nucleotide variant Perlman syndrome [RCV001400572] Chr2:232238612 [GRCh38]
Chr2:233103322 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.63T>G (p.Ala21=) single nucleotide variant Perlman syndrome [RCV001411988] Chr2:232015524 [GRCh38]
Chr2:232880234 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.366+9A>G single nucleotide variant Perlman syndrome [RCV001441287] Chr2:232030089 [GRCh38]
Chr2:232894799 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1197C>T (p.Leu399=) single nucleotide variant Perlman syndrome [RCV001404998]|not provided [RCV004711590] Chr2:232210398 [GRCh38]
Chr2:233075108 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2076T>C (p.Asn692=) single nucleotide variant DIS3L2-related disorder [RCV003900503]|Perlman syndrome [RCV001439736] Chr2:232333905 [GRCh38]
Chr2:233198615 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.711C>T (p.Tyr237=) single nucleotide variant Perlman syndrome [RCV001446588] Chr2:232136480 [GRCh38]
Chr2:233001190 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.264+1del deletion Perlman syndrome [RCV001390065] Chr2:232024330 [GRCh38]
Chr2:232889040 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1869A>G (p.Glu623=) single nucleotide variant Perlman syndrome [RCV001403545] Chr2:232329942 [GRCh38]
Chr2:233194652 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1185C>T (p.Ser395=) single nucleotide variant Perlman syndrome [RCV001429096] Chr2:232210386 [GRCh38]
Chr2:233075096 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.265-7A>G single nucleotide variant Perlman syndrome [RCV001449427] Chr2:232029972 [GRCh38]
Chr2:232894682 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2316C>T (p.Ala772=) single nucleotide variant Perlman syndrome [RCV001444590] Chr2:232334657 [GRCh38]
Chr2:233199367 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2091A>C (p.Thr697=) single nucleotide variant Perlman syndrome [RCV001401250] Chr2:232333920 [GRCh38]
Chr2:233198630 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-10C>G single nucleotide variant Perlman syndrome [RCV001407927] Chr2:232300030 [GRCh38]
Chr2:233164740 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.435C>A (p.Leu145=) single nucleotide variant Perlman syndrome [RCV001405645] Chr2:232087555 [GRCh38]
Chr2:232952265 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2169G>A (p.Glu723=) single nucleotide variant Perlman syndrome [RCV001393369] Chr2:232334379 [GRCh38]
Chr2:233199089 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-9G>C single nucleotide variant Perlman syndrome [RCV001408028] Chr2:232333831 [GRCh38]
Chr2:233198541 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.921C>T (p.Asp307=) single nucleotide variant Perlman syndrome [RCV001408042] Chr2:232136690 [GRCh38]
Chr2:233001400 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.732T>C (p.Ser244=) single nucleotide variant Perlman syndrome [RCV001447160] Chr2:232136501 [GRCh38]
Chr2:233001211 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.90T>C (p.Ala30=) single nucleotide variant Perlman syndrome [RCV001447169] Chr2:232015551 [GRCh38]
Chr2:232880261 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2497-12_2497-4del deletion Perlman syndrome [RCV001415801] Chr2:232336457..232336465 [GRCh38]
Chr2:233201167..233201175 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2106C>T (p.Pro702=) single nucleotide variant Perlman syndrome [RCV001444980] Chr2:232333935 [GRCh38]
Chr2:233198645 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1938A>G (p.Gln646=) single nucleotide variant Perlman syndrome [RCV001445044] Chr2:232330704 [GRCh38]
Chr2:233195414 [GRCh37]
Chr2:2q37.1		 likely benign
NC_000002.11:g.(?_233028159)_(233028352_?)del deletion Perlman syndrome [RCV001384018] Chr2:233028159..233028352 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1632T>C (p.Phe544=) single nucleotide variant Perlman syndrome [RCV001440371] Chr2:232263413 [GRCh38]
Chr2:233128123 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2316C>A (p.Ala772=) single nucleotide variant Perlman syndrome [RCV001442211] Chr2:232334657 [GRCh38]
Chr2:233199367 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2214C>T (p.His738=) single nucleotide variant Perlman syndrome [RCV001408270] Chr2:232334424 [GRCh38]
Chr2:233199134 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+10T>C single nucleotide variant Perlman syndrome [RCV001415967] Chr2:232249356 [GRCh38]
Chr2:233114066 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+1G>A single nucleotide variant Perlman syndrome [RCV001379566] Chr2:232130720 [GRCh38]
Chr2:232995430 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.672A>G (p.Leu224=) single nucleotide variant Perlman syndrome [RCV001434910] Chr2:232130689 [GRCh38]
Chr2:232995399 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2595C>T (p.His865=) single nucleotide variant Perlman syndrome [RCV001398481] Chr2:232336567 [GRCh38]
Chr2:233201277 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53-9T>C single nucleotide variant Perlman syndrome [RCV001408450] Chr2:232015505 [GRCh38]
Chr2:232880215 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2004C>A (p.Pro668=) single nucleotide variant Perlman syndrome [RCV001434809] Chr2:232330770 [GRCh38]
Chr2:233195480 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+9T>C single nucleotide variant DIS3L2-related disorder [RCV004751971]|Perlman syndrome [RCV001401411] Chr2:232330005 [GRCh38]
Chr2:233194715 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-20A>C single nucleotide variant not provided [RCV001534466] Chr2:232329793 [GRCh38]
Chr2:233194503 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.858C>G (p.Pro286=) single nucleotide variant Perlman syndrome [RCV001400225] Chr2:232136627 [GRCh38]
Chr2:233001337 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.408G>T (p.Ala136=) single nucleotide variant Perlman syndrome [RCV001402643] Chr2:232087528 [GRCh38]
Chr2:232952238 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.684C>A (p.Ser228=) single nucleotide variant Perlman syndrome [RCV001429648] Chr2:232130701 [GRCh38]
Chr2:232995411 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1879_1882del (p.Gln627fs) deletion Perlman syndrome [RCV001381785] Chr2:232329952..232329955 [GRCh38]
Chr2:233194662..233194665 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.120G>A (p.Arg40=) single nucleotide variant DIS3L2-related disorder [RCV004751979]|Perlman syndrome [RCV001427389] Chr2:232015581 [GRCh38]
Chr2:232880291 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.453G>C (p.Pro151=) single nucleotide variant Perlman syndrome [RCV001411276] Chr2:232087573 [GRCh38]
Chr2:232952283 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-9C>G single nucleotide variant Perlman syndrome [RCV001411341] Chr2:232210317 [GRCh38]
Chr2:233075027 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.756A>G (p.Lys252=) single nucleotide variant Perlman syndrome [RCV001440476] Chr2:232136525 [GRCh38]
Chr2:233001235 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1806C>G (p.Pro602=) single nucleotide variant Perlman syndrome [RCV001448232] Chr2:232329879 [GRCh38]
Chr2:233194589 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1557G>A (p.Glu519=) single nucleotide variant Perlman syndrome [RCV001411599] Chr2:232263338 [GRCh38]
Chr2:233128048 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-10C>G single nucleotide variant Perlman syndrome [RCV001439203] Chr2:232163449 [GRCh38]
Chr2:233028159 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2400G>T (p.Leu800=) single nucleotide variant Perlman syndrome [RCV001404245] Chr2:232335778 [GRCh38]
Chr2:233200488 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.829A>C (p.Arg277=) single nucleotide variant Perlman syndrome [RCV001448274] Chr2:232136598 [GRCh38]
Chr2:233001308 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1416A>G (p.Pro472=) single nucleotide variant Perlman syndrome [RCV001399161] Chr2:232249337 [GRCh38]
Chr2:233114047 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.441A>G (p.Gly147=) single nucleotide variant Perlman syndrome [RCV001411806] Chr2:232087561 [GRCh38]
Chr2:232952271 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+7G>T single nucleotide variant Perlman syndrome [RCV001448578] Chr2:232330003 [GRCh38]
Chr2:233194713 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2290-7C>T single nucleotide variant Perlman syndrome [RCV001448586] Chr2:232334624 [GRCh38]
Chr2:233199334 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2052G>A (p.Ala684=) single nucleotide variant Perlman syndrome [RCV001468353]|not provided [RCV003434253] Chr2:232333881 [GRCh38]
Chr2:233198591 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1924-6T>C single nucleotide variant Perlman syndrome [RCV001472572] Chr2:232330684 [GRCh38]
Chr2:233195394 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.42G>A (p.Gly14=) single nucleotide variant Perlman syndrome [RCV001479080] Chr2:232014969 [GRCh38]
Chr2:232879679 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2646A>C (p.Ser882=) single nucleotide variant Perlman syndrome [RCV001473188] Chr2:232336618 [GRCh38]
Chr2:233201328 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2109C>T (p.Ile703=) single nucleotide variant Perlman syndrome [RCV001461883] Chr2:232333938 [GRCh38]
Chr2:233198648 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.930G>A (p.Glu310=) single nucleotide variant Perlman syndrome [RCV001465297] Chr2:232136699 [GRCh38]
Chr2:233001409 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.30C>T (p.Leu10=) single nucleotide variant Perlman syndrome [RCV001502902] Chr2:232014957 [GRCh38]
Chr2:232879667 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1881G>A (p.Gln627=) single nucleotide variant Perlman syndrome [RCV001506607] Chr2:232329954 [GRCh38]
Chr2:233194664 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2121C>T (p.Ala707=) single nucleotide variant Perlman syndrome [RCV001486658] Chr2:232333950 [GRCh38]
Chr2:233198660 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.369A>G (p.Val123=) single nucleotide variant Perlman syndrome [RCV001455044] Chr2:232087489 [GRCh38]
Chr2:232952199 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2043G>A (p.Gln681=) single nucleotide variant Perlman syndrome [RCV001479995] Chr2:232333872 [GRCh38]
Chr2:233198582 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1924-7C>T single nucleotide variant Perlman syndrome [RCV001497140] Chr2:232330683 [GRCh38]
Chr2:233195393 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+242A>G single nucleotide variant not provided [RCV001539111] Chr2:232136961 [GRCh38]
Chr2:233001671 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2011-177G>A single nucleotide variant not provided [RCV001670352] Chr2:232333663 [GRCh38]
Chr2:233198373 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2394+8C>T single nucleotide variant DIS3L2-related disorder [RCV003956082]|Perlman syndrome [RCV001488476] Chr2:232334743 [GRCh38]
Chr2:233199453 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53-4C>A single nucleotide variant Perlman syndrome [RCV001460294] Chr2:232015510 [GRCh38]
Chr2:232880220 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.*79G>A single nucleotide variant not provided [RCV001649841] Chr2:232343654 [GRCh38]
Chr2:233208364 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.265-9_265-8delinsTT indel Perlman syndrome [RCV001456697] Chr2:232029970..232029971 [GRCh38]
Chr2:232894680..232894681 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2313A>G (p.Glu771=) single nucleotide variant Perlman syndrome [RCV001402987] Chr2:232334654 [GRCh38]
Chr2:233199364 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1743C>T (p.Leu581=) single nucleotide variant Perlman syndrome [RCV001497606] Chr2:232329816 [GRCh38]
Chr2:233194526 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1833C>T (p.Pro611=) single nucleotide variant Perlman syndrome [RCV001417153] Chr2:232329906 [GRCh38]
Chr2:233194616 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1827G>A (p.Arg609=) single nucleotide variant Perlman syndrome [RCV001469924] Chr2:232329900 [GRCh38]
Chr2:233194610 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2571G>A (p.Leu857=) single nucleotide variant Perlman syndrome [RCV001442238] Chr2:232336543 [GRCh38]
Chr2:233201253 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2655C>T (p.Ser885=) single nucleotide variant Perlman syndrome [RCV001490430] Chr2:232336627 [GRCh38]
Chr2:233201337 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2202A>G (p.Lys734=) single nucleotide variant Perlman syndrome [RCV001490548] Chr2:232334412 [GRCh38]
Chr2:233199122 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+10G>A single nucleotide variant Perlman syndrome [RCV001482907] Chr2:232333997 [GRCh38]
Chr2:233198707 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.576A>G (p.Lys192=) single nucleotide variant Perlman syndrome [RCV001467233] Chr2:232087696 [GRCh38]
Chr2:232952406 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.744C>T (p.Thr248=) single nucleotide variant Perlman syndrome [RCV001470606] Chr2:232136513 [GRCh38]
Chr2:233001223 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2407C>A (p.Arg803=) single nucleotide variant Perlman syndrome [RCV001473709] Chr2:232335785 [GRCh38]
Chr2:233200495 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-4A>G single nucleotide variant Perlman syndrome [RCV001459532] Chr2:232249235 [GRCh38]
Chr2:233113945 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1221A>G (p.Gly407=) single nucleotide variant Perlman syndrome [RCV001451295] Chr2:232238549 [GRCh38]
Chr2:233103259 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.630A>G (p.Thr210=) single nucleotide variant Perlman syndrome [RCV001503176] Chr2:232130647 [GRCh38]
Chr2:232995357 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1124+9C>G single nucleotide variant Perlman syndrome [RCV001488085] Chr2:232163641 [GRCh38]
Chr2:233028351 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.52+9del deletion Perlman syndrome [RCV001520930] Chr2:232014985 [GRCh38]
Chr2:232879695 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1941A>T (p.Thr647=) single nucleotide variant Perlman syndrome [RCV001469272] Chr2:232330707 [GRCh38]
Chr2:233195417 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2058C>T (p.Phe686=) single nucleotide variant Perlman syndrome [RCV001488541] Chr2:232333887 [GRCh38]
Chr2:233198597 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2553C>T (p.Leu851=) single nucleotide variant Perlman syndrome [RCV001452725] Chr2:232336525 [GRCh38]
Chr2:233201235 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1182C>T (p.Leu394=) single nucleotide variant Perlman syndrome [RCV001500368] Chr2:232210383 [GRCh38]
Chr2:233075093 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.265-5C>T single nucleotide variant Perlman syndrome [RCV001463008] Chr2:232029974 [GRCh38]
Chr2:232894684 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2038C>T (p.Leu680=) single nucleotide variant Perlman syndrome [RCV001427388] Chr2:232333867 [GRCh38]
Chr2:233198577 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2025C>T (p.Phe675=) single nucleotide variant Perlman syndrome [RCV001406837] Chr2:232333854 [GRCh38]
Chr2:233198564 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.450C>T (p.Leu150=) single nucleotide variant Perlman syndrome [RCV001452044] Chr2:232087570 [GRCh38]
Chr2:232952280 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1515T>A (p.Thr505=) single nucleotide variant Perlman syndrome [RCV001480593] Chr2:232263296 [GRCh38]
Chr2:233128006 [GRCh37]
Chr2:2q37.1		 likely benign
NC_000002.11:g.(?_233001172)_(233075125_?)del deletion Perlman syndrome [RCV001384020] Chr2:233001172..233075125 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_232879638)_(232952441_?)del deletion Perlman syndrome [RCV001384019] Chr2:232879638..232952441 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2011-4G>C single nucleotide variant Perlman syndrome [RCV001436890] Chr2:232333836 [GRCh38]
Chr2:233198546 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2610G>A (p.Lys870=) single nucleotide variant Perlman syndrome [RCV001485323] Chr2:232336582 [GRCh38]
Chr2:233201292 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+1G>A single nucleotide variant Perlman syndrome [RCV001379082] Chr2:232329997 [GRCh38]
Chr2:233194707 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.265-10T>C single nucleotide variant Perlman syndrome [RCV001480973] Chr2:232029969 [GRCh38]
Chr2:232894679 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1545C>A (p.Pro515=) single nucleotide variant Perlman syndrome [RCV001400781] Chr2:232263326 [GRCh38]
Chr2:233128036 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.36C>G (p.Pro12=) single nucleotide variant Perlman syndrome [RCV001454947] Chr2:232014963 [GRCh38]
Chr2:232879673 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.715T>C (p.Leu239=) single nucleotide variant DIS3L2-related disorder [RCV003900666]|Perlman syndrome [RCV001481032] Chr2:232136484 [GRCh38]
Chr2:233001194 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.582A>C (p.Ser194=) single nucleotide variant Perlman syndrome [RCV001463759] Chr2:232087702 [GRCh38]
Chr2:232952412 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2082C>T (p.Pro694=) single nucleotide variant Perlman syndrome [RCV001426568] Chr2:232333911 [GRCh38]
Chr2:233198621 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2571G>C (p.Leu857=) single nucleotide variant Perlman syndrome [RCV001394101] Chr2:232336543 [GRCh38]
Chr2:233201253 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2562C>T (p.Ser854=) single nucleotide variant Perlman syndrome [RCV001471888] Chr2:232336534 [GRCh38]
Chr2:233201244 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1692C>T (p.Thr564=) single nucleotide variant Perlman syndrome [RCV001471935] Chr2:232300072 [GRCh38]
Chr2:233164782 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter) single nucleotide variant Perlman syndrome [RCV001384568] Chr2:232015588 [GRCh38]
Chr2:232880298 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.1233T>C (p.Ala411=) single nucleotide variant Perlman syndrome [RCV001450604] Chr2:232238561 [GRCh38]
Chr2:233103271 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1725C>T (p.Tyr575=) single nucleotide variant Perlman syndrome [RCV001450641] Chr2:232300105 [GRCh38]
Chr2:233164815 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.1587C>T (p.Asn529=) single nucleotide variant Perlman syndrome [RCV002257276]|not provided [RCV003883801] Chr2:232343350 [GRCh38]
Chr2:233208060 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.353A>G (p.Glu118Gly) single nucleotide variant Perlman syndrome [RCV003108753] Chr2:232030067 [GRCh38]
Chr2:232894777 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2011-16C>G single nucleotide variant Perlman syndrome [RCV003107054] Chr2:232333824 [GRCh38]
Chr2:233198534 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1232C>A (p.Ala411Asp) single nucleotide variant Neurodevelopmental disorder [RCV002277679] Chr2:232238560 [GRCh38]
Chr2:233103270 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.266A>G (p.Asp89Gly) single nucleotide variant Perlman syndrome [RCV003104229] Chr2:232029980 [GRCh38]
Chr2:232894690 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001257281.2(DIS3L2):c.1733A>G (p.Gln578Arg) single nucleotide variant Perlman syndrome [RCV002257278] Chr2:232343496 [GRCh38]
Chr2:233208206 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.313G>T (p.Ala105Ser) single nucleotide variant Perlman syndrome [RCV001764203]|not provided [RCV003238132] Chr2:232030027 [GRCh38]
Chr2:232894737 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.33_34del (p.Leu13fs) deletion not provided [RCV003238126] Chr2:232014960..232014961 [GRCh38]
Chr2:232879670..232879671 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2263A>G (p.Ser755Gly) single nucleotide variant not provided [RCV003238380] Chr2:232334473 [GRCh38]
Chr2:233199183 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1858G>A (p.Asp620Asn) single nucleotide variant not provided [RCV003238384] Chr2:232329931 [GRCh38]
Chr2:233194641 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2394+28G>A single nucleotide variant not provided [RCV001794813] Chr2:232334763 [GRCh38]
Chr2:233199473 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.*11CCGCCTGCC[4] microsatellite not specified [RCV001822511] Chr2:232336640..232336641 [GRCh38]
Chr2:233201350..233201351 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.84T>G (p.Ile28Met) single nucleotide variant Perlman syndrome [RCV001986859] Chr2:232015545 [GRCh38]
Chr2:232880255 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1660-3del deletion Perlman syndrome [RCV002044620] Chr2:232300037 [GRCh38]
Chr2:233164747 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2558A>T (p.Tyr853Phe) single nucleotide variant Perlman syndrome [RCV001970815] Chr2:232336530 [GRCh38]
Chr2:233201240 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1583C>T (p.Ala528Val) single nucleotide variant Perlman syndrome [RCV002008500] Chr2:232263364 [GRCh38]
Chr2:233128074 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.285dup (p.Ile96fs) duplication Perlman syndrome [RCV001915011] Chr2:232029994..232029995 [GRCh38]
Chr2:232894704..232894705 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1360A>G (p.Ser454Gly) single nucleotide variant Perlman syndrome [RCV001929890] Chr2:232249281 [GRCh38]
Chr2:233113991 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.173A>T (p.Asp58Val) single nucleotide variant Perlman syndrome [RCV001947368] Chr2:232015634 [GRCh38]
Chr2:232880344 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-17G>A single nucleotide variant Perlman syndrome [RCV001894986] Chr2:232336452 [GRCh38]
Chr2:233201162 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.94C>T (p.Pro32Ser) single nucleotide variant Perlman syndrome [RCV001928915] Chr2:232015555 [GRCh38]
Chr2:232880265 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1426-3C>A single nucleotide variant Perlman syndrome [RCV002009057] Chr2:232263204 [GRCh38]
Chr2:233127914 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1592A>G (p.Asn531Ser) single nucleotide variant Perlman syndrome [RCV001911611] Chr2:232263373 [GRCh38]
Chr2:233128083 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2017C>G (p.Leu673Val) single nucleotide variant Perlman syndrome [RCV002025032] Chr2:232333846 [GRCh38]
Chr2:233198556 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.191A>G (p.Lys64Arg) single nucleotide variant Perlman syndrome [RCV001945202] Chr2:232015652 [GRCh38]
Chr2:232880362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.311G>A (p.Arg104Lys) single nucleotide variant Perlman syndrome [RCV001988313] Chr2:232030025 [GRCh38]
Chr2:232894735 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.58T>C (p.Ser20Pro) single nucleotide variant Perlman syndrome [RCV001874544] Chr2:232015519 [GRCh38]
Chr2:232880229 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.766G>A (p.Asp256Asn) single nucleotide variant Perlman syndrome [RCV001987966] Chr2:232136535 [GRCh38]
Chr2:233001245 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1814C>A (p.Ala605Asp) single nucleotide variant Perlman syndrome [RCV001988158] Chr2:232329887 [GRCh38]
Chr2:233194597 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.326A>T (p.Asp109Val) single nucleotide variant Perlman syndrome [RCV002045676] Chr2:232030040 [GRCh38]
Chr2:232894750 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2009A>G (p.Gln670Arg) single nucleotide variant Perlman syndrome [RCV002009418] Chr2:232330775 [GRCh38]
Chr2:233195485 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.751C>T (p.Leu251Phe) single nucleotide variant Perlman syndrome [RCV001893085] Chr2:232136520 [GRCh38]
Chr2:233001230 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1950_1952del (p.Asp651del) deletion Perlman syndrome [RCV001927280] Chr2:232330714..232330716 [GRCh38]
Chr2:233195424..233195426 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1759C>T (p.Leu587Phe) single nucleotide variant Perlman syndrome [RCV001970658] Chr2:232329832 [GRCh38]
Chr2:233194542 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1073G>C (p.Gly358Ala) single nucleotide variant Perlman syndrome [RCV001929246] Chr2:232163581 [GRCh38]
Chr2:233028291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2289+6C>A single nucleotide variant Perlman syndrome [RCV001914917] Chr2:232334505 [GRCh38]
Chr2:233199215 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1955A>C (p.Lys652Thr) single nucleotide variant Perlman syndrome [RCV001928189] Chr2:232330721 [GRCh38]
Chr2:233195431 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.883G>T (p.Asp295Tyr) single nucleotide variant Perlman syndrome [RCV001964515] Chr2:232136652 [GRCh38]
Chr2:233001362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1435G>A (p.Glu479Lys) single nucleotide variant Perlman syndrome [RCV001889671] Chr2:232263216 [GRCh38]
Chr2:233127926 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.11C>T (p.Pro4Leu) single nucleotide variant Perlman syndrome [RCV002002131] Chr2:232014938 [GRCh38]
Chr2:232879648 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1453A>C (p.Ile485Leu) single nucleotide variant Perlman syndrome [RCV001928475] Chr2:232263234 [GRCh38]
Chr2:233127944 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1104C>G (p.Phe368Leu) single nucleotide variant Perlman syndrome [RCV001872957] Chr2:232163612 [GRCh38]
Chr2:233028322 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.954G>T (p.Gln318His) single nucleotide variant Perlman syndrome [RCV001895805] Chr2:232163462 [GRCh38]
Chr2:233028172 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1351_1352delinsAT (p.Glu451Met) indel Perlman syndrome [RCV001928515] Chr2:232249272..232249273 [GRCh38]
Chr2:233113982..233113983 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2583C>T (p.Gly861=) single nucleotide variant Perlman syndrome [RCV001908678] Chr2:232336555 [GRCh38]
Chr2:233201265 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1297A>G (p.Ser433Gly) single nucleotide variant Perlman syndrome [RCV001894336] Chr2:232238625 [GRCh38]
Chr2:233103335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_232952187)_(233075125_?)del deletion Perlman syndrome [RCV001970224] Chr2:232952187..233075125 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1875C>G (p.Cys625Trp) single nucleotide variant Perlman syndrome [RCV001895980] Chr2:232329948 [GRCh38]
Chr2:233194658 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.68C>G (p.Ala23Gly) single nucleotide variant Perlman syndrome [RCV002008550] Chr2:232015529 [GRCh38]
Chr2:232880239 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1373T>C (p.Met458Thr) single nucleotide variant Perlman syndrome [RCV001914612] Chr2:232249294 [GRCh38]
Chr2:233114004 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1462T>A (p.Ser488Thr) single nucleotide variant Perlman syndrome [RCV002044279] Chr2:232263243 [GRCh38]
Chr2:233127953 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.659A>T (p.Asp220Val) single nucleotide variant Perlman syndrome [RCV001914568] Chr2:232130676 [GRCh38]
Chr2:232995386 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233198540)_(233201340_?)del deletion Perlman syndrome [RCV001913337] Chr2:233198540..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1578C>G (p.His526Gln) single nucleotide variant Perlman syndrome [RCV002008111] Chr2:232263359 [GRCh38]
Chr2:233128069 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2216G>A (p.Cys739Tyr) single nucleotide variant Perlman syndrome [RCV001950159] Chr2:232334426 [GRCh38]
Chr2:233199136 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1483G>C (p.Glu495Gln) single nucleotide variant Perlman syndrome [RCV002008859] Chr2:232263264 [GRCh38]
Chr2:233127974 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.856C>A (p.Pro286Thr) single nucleotide variant Perlman syndrome [RCV001893288] Chr2:232136625 [GRCh38]
Chr2:233001335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2221G>C (p.Asp741His) single nucleotide variant Perlman syndrome [RCV002042664] Chr2:232334431 [GRCh38]
Chr2:233199141 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1425+1G>A single nucleotide variant Perlman syndrome [RCV002003463] Chr2:232249347 [GRCh38]
Chr2:233114057 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.264+13A>C single nucleotide variant Perlman syndrome [RCV001946681] Chr2:232024343 [GRCh38]
Chr2:232889053 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_152383.5(DIS3L2):c.95C>T (p.Pro32Leu) single nucleotide variant Perlman syndrome [RCV002022907] Chr2:232015556 [GRCh38]
Chr2:232880266 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.400G>C (p.Glu134Gln) single nucleotide variant Perlman syndrome [RCV002041673] Chr2:232087520 [GRCh38]
Chr2:232952230 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2578C>T (p.Pro860Ser) single nucleotide variant Perlman syndrome [RCV002042049] Chr2:232336550 [GRCh38]
Chr2:233201260 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.656A>C (p.Gln219Pro) single nucleotide variant Perlman syndrome [RCV002040398] Chr2:232130673 [GRCh38]
Chr2:232995383 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1879C>A (p.Gln627Lys) single nucleotide variant Perlman syndrome [RCV002020512] Chr2:232329952 [GRCh38]
Chr2:233194662 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1124+5G>C single nucleotide variant Perlman syndrome [RCV001967806] Chr2:232163637 [GRCh38]
Chr2:233028347 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1570G>T (p.Glu524Ter) single nucleotide variant Perlman syndrome [RCV001912047] Chr2:232263351 [GRCh38]
Chr2:233128061 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1723T>A (p.Tyr575Asn) single nucleotide variant Perlman syndrome [RCV001890776] Chr2:232300103 [GRCh38]
Chr2:233164813 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1228A>G (p.Ile410Val) single nucleotide variant Perlman syndrome [RCV001985367] Chr2:232238556 [GRCh38]
Chr2:233103266 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.734G>T (p.Arg245Leu) single nucleotide variant Perlman syndrome [RCV002021424] Chr2:232136503 [GRCh38]
Chr2:233001213 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233201169)_(233201340_?)dup duplication Perlman syndrome [RCV001912123] Chr2:233201169..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2071C>T (p.Leu691Phe) single nucleotide variant Perlman syndrome [RCV002021674] Chr2:232333900 [GRCh38]
Chr2:233198610 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1384C>G (p.Leu462Val) single nucleotide variant Perlman syndrome [RCV002004988] Chr2:232249305 [GRCh38]
Chr2:233114015 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.580T>A (p.Ser194Thr) single nucleotide variant Perlman syndrome [RCV001890010] Chr2:232087700 [GRCh38]
Chr2:232952410 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2617dup (p.Glu873fs) duplication Perlman syndrome [RCV001908665] Chr2:232336587..232336588 [GRCh38]
Chr2:233201297..233201298 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1145T>C (p.Ile382Thr) single nucleotide variant Perlman syndrome [RCV002039434] Chr2:232210346 [GRCh38]
Chr2:233075056 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2182G>C (p.Ala728Pro) single nucleotide variant Perlman syndrome [RCV001910764] Chr2:232334392 [GRCh38]
Chr2:233199102 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2205G>T (p.Gln735His) single nucleotide variant Perlman syndrome [RCV001890154] Chr2:232334415 [GRCh38]
Chr2:233199125 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1994G>T (p.Cys665Phe) single nucleotide variant Perlman syndrome [RCV001909059] Chr2:232330760 [GRCh38]
Chr2:233195470 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2366A>C (p.Tyr789Ser) single nucleotide variant Perlman syndrome [RCV001945945] Chr2:232334707 [GRCh38]
Chr2:233199417 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2434AAG[1] (p.Lys813del) microsatellite Perlman syndrome [RCV002022659] Chr2:232335812..232335814 [GRCh38]
Chr2:233200522..233200524 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2249A>G (p.Gln750Arg) single nucleotide variant Perlman syndrome [RCV001984560] Chr2:232334459 [GRCh38]
Chr2:233199169 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2113C>T (p.Arg705Cys) single nucleotide variant Perlman syndrome [RCV001985627] Chr2:232333942 [GRCh38]
Chr2:233198652 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2347G>A (p.Asp783Asn) single nucleotide variant Perlman syndrome [RCV001889682] Chr2:232334688 [GRCh38]
Chr2:233199398 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1489G>A (p.Ala497Thr) single nucleotide variant Perlman syndrome [RCV002005662] Chr2:232263270 [GRCh38]
Chr2:233127980 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2064C>G (p.His688Gln) single nucleotide variant Perlman syndrome [RCV002004879] Chr2:232333893 [GRCh38]
Chr2:233198603 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) copy number loss not specified [RCV002053291] Chr2:228807574..235475892 [GRCh37]
Chr2:2q36.3-37.1		 pathogenic
NM_152383.5(DIS3L2):c.2465C>T (p.Pro822Leu) single nucleotide variant Perlman syndrome [RCV001891389] Chr2:232335843 [GRCh38]
Chr2:233200553 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1372A>G (p.Met458Val) single nucleotide variant Perlman syndrome [RCV001987010] Chr2:232249293 [GRCh38]
Chr2:233114003 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.370G>A (p.Val124Ile) single nucleotide variant Perlman syndrome [RCV001895682] Chr2:232087490 [GRCh38]
Chr2:232952200 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1659+3C>T single nucleotide variant Perlman syndrome [RCV002004212] Chr2:232263443 [GRCh38]
Chr2:233128153 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1003G>A (p.Gly335Arg) single nucleotide variant Perlman syndrome [RCV001986673] Chr2:232163511 [GRCh38]
Chr2:233028221 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1820T>C (p.Leu607Pro) single nucleotide variant Perlman syndrome [RCV002004125] Chr2:232329893 [GRCh38]
Chr2:233194603 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473) copy number loss not specified [RCV002053294] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2213A>G (p.His738Arg) single nucleotide variant Perlman syndrome [RCV001892908] Chr2:232334423 [GRCh38]
Chr2:233199133 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1823G>C (p.Arg608Pro) single nucleotide variant Perlman syndrome [RCV001889435] Chr2:232329896 [GRCh38]
Chr2:233194606 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1021G>A (p.Gly341Ser) single nucleotide variant Perlman syndrome [RCV001964420] Chr2:232163529 [GRCh38]
Chr2:233028239 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233164740)_(233199219_?)dup duplication Perlman syndrome [RCV001912125] Chr2:233164740..233199219 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1985C>T (p.Thr662Ile) single nucleotide variant Perlman syndrome [RCV001926707] Chr2:232330751 [GRCh38]
Chr2:233195461 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1204+5G>A single nucleotide variant Perlman syndrome [RCV001913793] Chr2:232210410 [GRCh38]
Chr2:233075120 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2344T>G (p.Phe782Val) single nucleotide variant Perlman syndrome [RCV002021263] Chr2:232334685 [GRCh38]
Chr2:233199395 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1859_1866del (p.Asp620fs) deletion Perlman syndrome [RCV001926888] Chr2:232329929..232329936 [GRCh38]
Chr2:233194639..233194646 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2411C>T (p.Ser804Phe) single nucleotide variant Perlman syndrome [RCV002007735] Chr2:232335789 [GRCh38]
Chr2:233200499 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2199G>T (p.Gln733His) single nucleotide variant Perlman syndrome [RCV001926972] Chr2:232334409 [GRCh38]
Chr2:233199119 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.754A>G (p.Lys252Glu) single nucleotide variant Perlman syndrome [RCV002041563] Chr2:232136523 [GRCh38]
Chr2:233001233 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1781C>T (p.Ala594Val) single nucleotide variant Perlman syndrome [RCV001909246] Chr2:232329854 [GRCh38]
Chr2:233194564 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2606_2610dup (p.Glu871fs) duplication Perlman syndrome [RCV001947673] Chr2:232336576..232336577 [GRCh38]
Chr2:233201286..233201287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1760T>C (p.Leu587Pro) single nucleotide variant Perlman syndrome [RCV002021217] Chr2:232329833 [GRCh38]
Chr2:233194543 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1897G>T (p.Asp633Tyr) single nucleotide variant Perlman syndrome [RCV002039876] Chr2:232329970 [GRCh38]
Chr2:233194680 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.730T>C (p.Ser244Pro) single nucleotide variant Perlman syndrome [RCV002039889] Chr2:232136499 [GRCh38]
Chr2:233001209 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_152383.5(DIS3L2):c.452C>G (p.Pro151Arg) single nucleotide variant Perlman syndrome [RCV001927257] Chr2:232087572 [GRCh38]
Chr2:232952282 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2166G>T (p.Arg722Ser) single nucleotide variant Perlman syndrome [RCV001894815] Chr2:232334376 [GRCh38]
Chr2:233199086 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1678C>G (p.Leu560Val) single nucleotide variant Perlman syndrome [RCV001871283] Chr2:232300058 [GRCh38]
Chr2:233164768 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2010+16_2010+37dup duplication Perlman syndrome [RCV001890985] Chr2:232330786..232330787 [GRCh38]
Chr2:233195496..233195497 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.452C>T (p.Pro151Leu) single nucleotide variant Inborn genetic diseases [RCV002561401]|Perlman syndrome [RCV001948661] Chr2:232087572 [GRCh38]
Chr2:232952282 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2264G>A (p.Ser755Asn) single nucleotide variant Perlman syndrome [RCV002023440] Chr2:232334474 [GRCh38]
Chr2:233199184 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2596_2597del (p.Leu866fs) deletion Perlman syndrome [RCV002006769] Chr2:232336568..232336569 [GRCh38]
Chr2:233201278..233201279 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.511G>T (p.Asp171Tyr) single nucleotide variant Perlman syndrome [RCV002005162] Chr2:232087631 [GRCh38]
Chr2:232952341 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.109T>C (p.Ser37Pro) single nucleotide variant Perlman syndrome [RCV001909697] Chr2:232015570 [GRCh38]
Chr2:232880280 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233075026)_(233075125_?)dup duplication Perlman syndrome [RCV002041623] Chr2:233075026..233075125 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2607G>C (p.Glu869Asp) single nucleotide variant Perlman syndrome [RCV002006119] Chr2:232336579 [GRCh38]
Chr2:233201289 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2209G>T (p.Asp737Tyr) single nucleotide variant Perlman syndrome [RCV001911343] Chr2:232334419 [GRCh38]
Chr2:233199129 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg) single nucleotide variant Hepatoblastoma [RCV001843898]|Perlman syndrome [RCV002545233] Chr2:232336506 [GRCh38]
Chr2:233201216 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2318T>C (p.Met773Thr) single nucleotide variant Perlman syndrome [RCV001943903] Chr2:232334659 [GRCh38]
Chr2:233199369 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.848A>G (p.Lys283Arg) single nucleotide variant Perlman syndrome [RCV001959559] Chr2:232136617 [GRCh38]
Chr2:233001327 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.197G>C (p.Gly66Ala) single nucleotide variant Perlman syndrome [RCV001939102] Chr2:232015658 [GRCh38]
Chr2:232880368 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.319A>C (p.Asn107His) single nucleotide variant Perlman syndrome [RCV001944697] Chr2:232030033 [GRCh38]
Chr2:232894743 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2145G>A (p.Leu715=) single nucleotide variant Perlman syndrome [RCV001944549] Chr2:232333974 [GRCh38]
Chr2:233198684 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2371G>C (p.Val791Leu) single nucleotide variant Perlman syndrome [RCV001997185] Chr2:232334712 [GRCh38]
Chr2:233199422 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2394+1G>A single nucleotide variant Perlman syndrome [RCV002019395] Chr2:232334736 [GRCh38]
Chr2:233199446 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2596C>G (p.Leu866Val) single nucleotide variant Perlman syndrome [RCV002018443] Chr2:232336568 [GRCh38]
Chr2:233201278 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2075A>G (p.Asn692Ser) single nucleotide variant Perlman syndrome [RCV002027138] Chr2:232333904 [GRCh38]
Chr2:233198614 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2033G>A (p.Gly678Glu) single nucleotide variant Perlman syndrome [RCV002038191] Chr2:232333862 [GRCh38]
Chr2:233198572 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.188T>C (p.Leu63Ser) single nucleotide variant Perlman syndrome [RCV001980905] Chr2:232015649 [GRCh38]
Chr2:232880359 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.820C>T (p.Arg274Ter) single nucleotide variant Perlman syndrome [RCV001962888] Chr2:232136589 [GRCh38]
Chr2:233001299 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1081T>G (p.Trp361Gly) single nucleotide variant Perlman syndrome [RCV002009497] Chr2:232163589 [GRCh38]
Chr2:233028299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2025C>G (p.Phe675Leu) single nucleotide variant Perlman syndrome [RCV001887408] Chr2:232333854 [GRCh38]
Chr2:233198564 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.363G>A (p.Trp121Ter) single nucleotide variant Perlman syndrome [RCV001963055] Chr2:232030077 [GRCh38]
Chr2:232894787 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233195390)_(233201340_?)dup duplication Perlman syndrome [RCV001888229] Chr2:233195390..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1017G>T (p.Glu339Asp) single nucleotide variant Perlman syndrome [RCV001958140] Chr2:232163525 [GRCh38]
Chr2:233028235 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1907C>G (p.Ser636Cys) single nucleotide variant Perlman syndrome [RCV001937589] Chr2:232329980 [GRCh38]
Chr2:233194690 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.563A>G (p.Asp188Gly) single nucleotide variant Perlman syndrome [RCV002011103] Chr2:232087683 [GRCh38]
Chr2:232952393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.800T>C (p.Leu267Pro) single nucleotide variant Perlman syndrome [RCV001884745] Chr2:232136569 [GRCh38]
Chr2:233001279 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.917T>C (p.Val306Ala) single nucleotide variant Perlman syndrome [RCV001886894] Chr2:232136686 [GRCh38]
Chr2:233001396 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1619G>A (p.Arg540His) single nucleotide variant Perlman syndrome [RCV001877009] Chr2:232263400 [GRCh38]
Chr2:233128110 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.48del (p.Arg17fs) deletion Perlman syndrome [RCV001934543] Chr2:232014971 [GRCh38]
Chr2:232879681 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.536A>G (p.His179Arg) single nucleotide variant Perlman syndrome [RCV001979908] Chr2:232087656 [GRCh38]
Chr2:232952366 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.761T>C (p.Leu254Ser) single nucleotide variant Perlman syndrome [RCV001963590] Chr2:232136530 [GRCh38]
Chr2:233001240 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.875G>C (p.Arg292Pro) single nucleotide variant Perlman syndrome [RCV002018947] Chr2:232136644 [GRCh38]
Chr2:233001354 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1028A>G (p.Asp343Gly) single nucleotide variant Perlman syndrome [RCV002000236] Chr2:232163536 [GRCh38]
Chr2:233028246 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2387A>G (p.Tyr796Cys) single nucleotide variant Perlman syndrome [RCV001938541] Chr2:232334728 [GRCh38]
Chr2:233199438 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1771A>G (p.Met591Val) single nucleotide variant Perlman syndrome [RCV001875682] Chr2:232329844 [GRCh38]
Chr2:233194554 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1325C>T (p.Pro442Leu) single nucleotide variant Perlman syndrome [RCV001932204] Chr2:232249246 [GRCh38]
Chr2:233113956 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1060T>C (p.Cys354Arg) single nucleotide variant Perlman syndrome [RCV001981399] Chr2:232163568 [GRCh38]
Chr2:233028278 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1346G>T (p.Cys449Phe) single nucleotide variant Perlman syndrome [RCV002037528] Chr2:232249267 [GRCh38]
Chr2:233113977 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1923+17A>G single nucleotide variant Perlman syndrome [RCV001962331] Chr2:232330013 [GRCh38]
Chr2:233194723 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2506A>G (p.Ile836Val) single nucleotide variant Perlman syndrome [RCV001934898] Chr2:232336478 [GRCh38]
Chr2:233201188 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233028159)_(233075125_?)dup duplication Perlman syndrome [RCV002050569] Chr2:233028159..233075125 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.515G>A (p.Gly172Asp) single nucleotide variant Perlman syndrome [RCV001955385] Chr2:232087635 [GRCh38]
Chr2:232952345 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1660-14_1660-13insCC insertion Perlman syndrome [RCV001994966] Chr2:232300025..232300026 [GRCh38]
Chr2:233164735..233164736 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1073G>T (p.Gly358Val) single nucleotide variant Perlman syndrome [RCV001995563] Chr2:232163581 [GRCh38]
Chr2:233028291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1716C>G (p.Ile572Met) single nucleotide variant Perlman syndrome [RCV001931100] Chr2:232300096 [GRCh38]
Chr2:233164806 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1096G>C (p.Glu366Gln) single nucleotide variant Perlman syndrome [RCV001932326] Chr2:232163604 [GRCh38]
Chr2:233028314 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1915G>T (p.Ala639Ser) single nucleotide variant Perlman syndrome [RCV001989651] Chr2:232329988 [GRCh38]
Chr2:233194698 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1156A>G (p.Thr386Ala) single nucleotide variant Perlman syndrome [RCV001899151] Chr2:232210357 [GRCh38]
Chr2:233075067 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2363G>T (p.Arg788Leu) single nucleotide variant Perlman syndrome [RCV001972881] Chr2:232334704 [GRCh38]
Chr2:233199414 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.545C>T (p.Thr182Ile) single nucleotide variant Perlman syndrome [RCV001904304] Chr2:232087665 [GRCh38]
Chr2:232952375 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_232952187)_(233028352_?)del deletion Perlman syndrome [RCV001975257] Chr2:232952187..233028352 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2042A>G (p.Gln681Arg) single nucleotide variant Perlman syndrome [RCV001876323] Chr2:232333871 [GRCh38]
Chr2:233198581 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2588A>T (p.Gln863Leu) single nucleotide variant Perlman syndrome [RCV001932510] Chr2:232336560 [GRCh38]
Chr2:233201270 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233164730)_(234250992_?)dup duplication not provided [RCV001989941] Chr2:233164730..234250992 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2429T>G (p.Val810Gly) single nucleotide variant Perlman syndrome [RCV001903165] Chr2:232335807 [GRCh38]
Chr2:233200517 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233164740)_(233199455_?)dup duplication Perlman syndrome [RCV001953275] Chr2:233164740..233199455 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1487A>G (p.His496Arg) single nucleotide variant Perlman syndrome [RCV001993937] Chr2:232263268 [GRCh38]
Chr2:233127978 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2416C>T (p.His806Tyr) single nucleotide variant Perlman syndrome [RCV001979197] Chr2:232335794 [GRCh38]
Chr2:233200504 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.601+1G>A single nucleotide variant Perlman syndrome [RCV002015157] Chr2:232087722 [GRCh38]
Chr2:232952432 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.359A>G (p.His120Arg) single nucleotide variant Inborn genetic diseases [RCV002562148]|Perlman syndrome [RCV001957794] Chr2:232030073 [GRCh38]
Chr2:232894783 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1208A>C (p.Asn403Thr) single nucleotide variant Perlman syndrome [RCV001936016] Chr2:232238536 [GRCh38]
Chr2:233103246 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1988A>G (p.Asn663Ser) single nucleotide variant Perlman syndrome [RCV001992881] Chr2:232330754 [GRCh38]
Chr2:233195464 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.86del (p.Gly29fs) deletion Perlman syndrome [RCV001917240] Chr2:232015546 [GRCh38]
Chr2:232880256 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.550A>T (p.Asn184Tyr) single nucleotide variant Perlman syndrome [RCV001991676] Chr2:232087670 [GRCh38]
Chr2:232952380 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1589T>C (p.Leu530Ser) single nucleotide variant Perlman syndrome [RCV001917294] Chr2:232263370 [GRCh38]
Chr2:233128080 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2289+1G>A single nucleotide variant Perlman syndrome [RCV002027751] Chr2:232334500 [GRCh38]
Chr2:233199210 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.808C>T (p.Pro270Ser) single nucleotide variant Perlman syndrome [RCV001991796] Chr2:232136577 [GRCh38]
Chr2:233001287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1271A>T (p.Asp424Val) single nucleotide variant Perlman syndrome [RCV001898789] Chr2:232238599 [GRCh38]
Chr2:233103309 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1573G>A (p.Val525Ile) single nucleotide variant Perlman syndrome [RCV001933334] Chr2:232263354 [GRCh38]
Chr2:233128064 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1758G>A (p.Met586Ile) single nucleotide variant Perlman syndrome [RCV001953971] Chr2:232329831 [GRCh38]
Chr2:233194541 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1924-1G>C single nucleotide variant Perlman syndrome [RCV002013911] Chr2:232330689 [GRCh38]
Chr2:233195399 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.375del (p.Lys125fs) deletion Perlman syndrome [RCV001994821] Chr2:232087493 [GRCh38]
Chr2:232952203 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.475_477del (p.Asn159del) deletion Perlman syndrome [RCV001978393] Chr2:232087593..232087595 [GRCh38]
Chr2:232952303..232952305 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.626T>C (p.Val209Ala) single nucleotide variant Perlman syndrome [RCV002013977] Chr2:232130643 [GRCh38]
Chr2:232995353 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2219del (p.Asn740fs) deletion Perlman syndrome [RCV001972591] Chr2:232334428 [GRCh38]
Chr2:233199138 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.867T>A (p.Phe289Leu) single nucleotide variant Perlman syndrome [RCV001904512] Chr2:232136636 [GRCh38]
Chr2:233001346 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233001172)_(233001439_?)dup duplication Perlman syndrome [RCV002050559] Chr2:233001172..233001439 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.547C>G (p.Gln183Glu) single nucleotide variant Perlman syndrome [RCV002018767] Chr2:232087667 [GRCh38]
Chr2:232952377 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2335_2394+30del deletion Perlman syndrome [RCV002012916] Chr2:232334675..232334764 [GRCh38]
Chr2:233199385..233199474 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1425+12C>A single nucleotide variant Perlman syndrome [RCV001932432] Chr2:232249358 [GRCh38]
Chr2:233114068 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1426-18A>G single nucleotide variant Perlman syndrome [RCV001870555] Chr2:232263189 [GRCh38]
Chr2:233127899 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.970G>T (p.Gly324Trp) single nucleotide variant Perlman syndrome [RCV002033695] Chr2:232163478 [GRCh38]
Chr2:233028188 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233201169)_(233201340_?)del deletion Perlman syndrome [RCV001919193] Chr2:233201169..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.260C>T (p.Ser87Phe) single nucleotide variant Perlman syndrome [RCV001937083] Chr2:232024326 [GRCh38]
Chr2:232889036 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1A>G (p.Met1Val) single nucleotide variant Perlman syndrome [RCV001905182] Chr2:232014928 [GRCh38]
Chr2:232879638 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2346C>A (p.Phe782Leu) single nucleotide variant Perlman syndrome [RCV002036711] Chr2:232334687 [GRCh38]
Chr2:233199397 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.904A>G (p.Ile302Val) single nucleotide variant Perlman syndrome [RCV001901892] Chr2:232136673 [GRCh38]
Chr2:233001383 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.445C>T (p.His149Tyr) single nucleotide variant Perlman syndrome [RCV001978694] Chr2:232087565 [GRCh38]
Chr2:232952275 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_231033840)_(234978657_?)dup duplication Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] Chr2:231033840..234978657 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2342C>T (p.Ala781Val) single nucleotide variant Perlman syndrome [RCV001991345] Chr2:232334683 [GRCh38]
Chr2:233199393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.760T>G (p.Leu254Val) single nucleotide variant Inborn genetic diseases [RCV002562109]|Perlman syndrome [RCV001933984] Chr2:232136529 [GRCh38]
Chr2:233001239 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2147C>G (p.Ala716Gly) single nucleotide variant Perlman syndrome [RCV002014638] Chr2:232333976 [GRCh38]
Chr2:233198686 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2215T>G (p.Cys739Gly) single nucleotide variant Perlman syndrome [RCV001959858] Chr2:232334425 [GRCh38]
Chr2:233199135 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1418A>C (p.Glu473Ala) single nucleotide variant Perlman syndrome [RCV001981344] Chr2:232249339 [GRCh38]
Chr2:233114049 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-19A>C single nucleotide variant Perlman syndrome [RCV002047198] Chr2:232029960 [GRCh38]
Chr2:232894670 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1422C>T (p.Gly474=) single nucleotide variant Perlman syndrome [RCV001902209] Chr2:232249343 [GRCh38]
Chr2:233114053 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2044G>A (p.Asp682Asn) single nucleotide variant Perlman syndrome [RCV002031192] Chr2:232333873 [GRCh38]
Chr2:233198583 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1877A>G (p.Asp626Gly) single nucleotide variant Perlman syndrome [RCV002018413] Chr2:232329950 [GRCh38]
Chr2:233194660 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.689A>G (p.Gln230Arg) single nucleotide variant Perlman syndrome [RCV001980798] Chr2:232130706 [GRCh38]
Chr2:232995416 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.581C>G (p.Ser194Ter) single nucleotide variant Perlman syndrome [RCV001960523] Chr2:232087701 [GRCh38]
Chr2:232952411 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.37C>G (p.Leu13Val) single nucleotide variant Perlman syndrome [RCV002012123] Chr2:232014964 [GRCh38]
Chr2:232879674 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.614G>A (p.Gly205Asp) single nucleotide variant Perlman syndrome [RCV001935577] Chr2:232130631 [GRCh38]
Chr2:232995341 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2630G>T (p.Gly877Val) single nucleotide variant Perlman syndrome [RCV001978027] Chr2:232336602 [GRCh38]
Chr2:233201312 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1610A>G (p.Lys537Arg) single nucleotide variant Perlman syndrome [RCV001971990] Chr2:232263391 [GRCh38]
Chr2:233128101 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1403G>A (p.Trp468Ter) single nucleotide variant Perlman syndrome [RCV001997310] Chr2:232249324 [GRCh38]
Chr2:233114034 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2289+3G>A single nucleotide variant Perlman syndrome [RCV002035927] Chr2:232334502 [GRCh38]
Chr2:233199212 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.19A>G (p.Arg7Gly) single nucleotide variant Perlman syndrome [RCV002047695] Chr2:232014946 [GRCh38]
Chr2:232879656 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.346C>A (p.Leu116Ile) single nucleotide variant Perlman syndrome [RCV001897420] Chr2:232030060 [GRCh38]
Chr2:232894770 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.717G>A (p.Leu239=) single nucleotide variant Perlman syndrome [RCV001901356] Chr2:232136486 [GRCh38]
Chr2:233001196 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1124+19T>G single nucleotide variant Perlman syndrome [RCV001905627] Chr2:232163651 [GRCh38]
Chr2:233028361 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.1177G>T (p.Ala393Ser) single nucleotide variant Perlman syndrome [RCV001938897] Chr2:232210378 [GRCh38]
Chr2:233075088 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1793A>G (p.His598Arg) single nucleotide variant Perlman syndrome [RCV001926109] Chr2:232329866 [GRCh38]
Chr2:233194576 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2077G>C (p.Val693Leu) single nucleotide variant Perlman syndrome [RCV001906253] Chr2:232333906 [GRCh38]
Chr2:233198616 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1555G>C (p.Glu519Gln) single nucleotide variant Perlman syndrome [RCV001982229] Chr2:232263336 [GRCh38]
Chr2:233128046 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2566A>G (p.Ile856Val) single nucleotide variant Perlman syndrome [RCV002012763] Chr2:232336538 [GRCh38]
Chr2:233201248 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_232952187)_(232952441_?)del deletion Perlman syndrome [RCV001972555] Chr2:232952187..232952441 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1490C>T (p.Ala497Val) single nucleotide variant Perlman syndrome [RCV002026754] Chr2:232263271 [GRCh38]
Chr2:233127981 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2382C>A (p.Arg794=) single nucleotide variant Perlman syndrome [RCV002030416] Chr2:232334723 [GRCh38]
Chr2:233199433 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2088C>G (p.Tyr696Ter) single nucleotide variant Perlman syndrome [RCV001938410] Chr2:232333917 [GRCh38]
Chr2:233198627 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2648G>A (p.Ser883Asn) single nucleotide variant Perlman syndrome [RCV001981570] Chr2:232336620 [GRCh38]
Chr2:233201330 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.731C>G (p.Ser244Cys) single nucleotide variant Perlman syndrome [RCV002016137] Chr2:232136500 [GRCh38]
Chr2:233001210 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497G>A (p.Val833Ile) single nucleotide variant Perlman syndrome [RCV001960913] Chr2:232336469 [GRCh38]
Chr2:233201179 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.88G>T (p.Ala30Ser) single nucleotide variant Perlman syndrome [RCV001939753] Chr2:232015549 [GRCh38]
Chr2:232880259 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2160C>T (p.Gly720=) single nucleotide variant Perlman syndrome [RCV001997439] Chr2:232334370 [GRCh38]
Chr2:233199080 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.769A>C (p.Lys257Gln) single nucleotide variant Perlman syndrome [RCV001980440] Chr2:232136538 [GRCh38]
Chr2:233001248 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1195C>G (p.Leu399Val) single nucleotide variant Perlman syndrome [RCV001884265] Chr2:232210396 [GRCh38]
Chr2:233075106 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1787A>G (p.Lys596Arg) single nucleotide variant Perlman syndrome [RCV001980970] Chr2:232329860 [GRCh38]
Chr2:233194570 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.458A>C (p.Gln153Pro) single nucleotide variant Inborn genetic diseases [RCV002553511]|Perlman syndrome [RCV001884280] Chr2:232087578 [GRCh38]
Chr2:232952288 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2245G>T (p.Val749Leu) single nucleotide variant Perlman syndrome [RCV001930190] Chr2:232334455 [GRCh38]
Chr2:233199165 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.236A>C (p.Lys79Thr) single nucleotide variant Perlman syndrome [RCV001931221] Chr2:232024302 [GRCh38]
Chr2:232889012 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1002A>C (p.Glu334Asp) single nucleotide variant Perlman syndrome [RCV001993505] Chr2:232163510 [GRCh38]
Chr2:233028220 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.433C>T (p.Leu145Phe) single nucleotide variant Perlman syndrome [RCV001903759] Chr2:232087553 [GRCh38]
Chr2:232952263 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1425G>A (p.Lys475=) single nucleotide variant Perlman syndrome [RCV002016249] Chr2:232249346 [GRCh38]
Chr2:233114056 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233164740)_(233164839_?)dup duplication Perlman syndrome [RCV002050555] Chr2:233164740..233164839 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1558C>T (p.His520Tyr) single nucleotide variant Perlman syndrome [RCV001933217] Chr2:232263339 [GRCh38]
Chr2:233128049 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2491C>G (p.Gln831Glu) single nucleotide variant Perlman syndrome [RCV002016440] Chr2:232335869 [GRCh38]
Chr2:233200579 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.659A>C (p.Asp220Ala) single nucleotide variant Perlman syndrome [RCV001978835] Chr2:232130676 [GRCh38]
Chr2:232995386 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-6A>G single nucleotide variant Perlman syndrome [RCV002031931] Chr2:232029973 [GRCh38]
Chr2:232894683 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.841C>T (p.Pro281Ser) single nucleotide variant Perlman syndrome [RCV002026325] Chr2:232136610 [GRCh38]
Chr2:233001320 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395_2396delGC (p.Ala799fs) deletion Perlman syndrome [RCV002028223] Chr2:232335773..232335774 [GRCh38]
Chr2:233200483..233200484 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.659A>G (p.Asp220Gly) single nucleotide variant Perlman syndrome [RCV001867435] Chr2:232130676 [GRCh38]
Chr2:232995386 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1785C>G (p.His595Gln) single nucleotide variant Perlman syndrome [RCV001954934] Chr2:232329858 [GRCh38]
Chr2:233194568 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1372A>C (p.Met458Leu) single nucleotide variant Perlman syndrome [RCV001995116] Chr2:232249293 [GRCh38]
Chr2:233114003 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2438A>G (p.Lys813Arg) single nucleotide variant Perlman syndrome [RCV001992153] Chr2:232335816 [GRCh38]
Chr2:233200526 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.601+3G>A single nucleotide variant Perlman syndrome [RCV001955166] Chr2:232087724 [GRCh38]
Chr2:232952434 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2491C>T (p.Gln831Ter) single nucleotide variant Perlman syndrome [RCV001933769] Chr2:232335869 [GRCh38]
Chr2:233200579 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1931T>C (p.Leu644Pro) single nucleotide variant Perlman syndrome [RCV001902339] Chr2:232330697 [GRCh38]
Chr2:233195407 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.953A>C (p.Gln318Pro) single nucleotide variant Perlman syndrome [RCV001976208] Chr2:232163461 [GRCh38]
Chr2:233028171 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1205-15C>T single nucleotide variant Perlman syndrome [RCV002211429] Chr2:232238518 [GRCh38]
Chr2:233103228 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.210+14_210+16dup duplication Perlman syndrome [RCV002210420] Chr2:232015682..232015683 [GRCh38]
Chr2:232880392..232880393 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1426-14G>A single nucleotide variant Perlman syndrome [RCV002146769] Chr2:232263193 [GRCh38]
Chr2:233127903 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+19G>C single nucleotide variant Perlman syndrome [RCV002086133] Chr2:232334006 [GRCh38]
Chr2:233198716 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1075C>T (p.Leu359=) single nucleotide variant Perlman syndrome [RCV002087681] Chr2:232163583 [GRCh38]
Chr2:233028293 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1980G>A (p.Val660=) single nucleotide variant Perlman syndrome [RCV002209334] Chr2:232330746 [GRCh38]
Chr2:233195456 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2010+20G>A single nucleotide variant Perlman syndrome [RCV002126808] Chr2:232330796 [GRCh38]
Chr2:233195506 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2395-13G>A single nucleotide variant Perlman syndrome [RCV002088700] Chr2:232335760 [GRCh38]
Chr2:233200470 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1205-16_1205-14del deletion Perlman syndrome [RCV002086231] Chr2:232238515..232238517 [GRCh38]
Chr2:233103225..233103227 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+18A>G single nucleotide variant Perlman syndrome [RCV002074573] Chr2:232210423 [GRCh38]
Chr2:233075133 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-17dup duplication Perlman syndrome [RCV002090455] Chr2:232210306..232210307 [GRCh38]
Chr2:233075016..233075017 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-8C>T single nucleotide variant Perlman syndrome [RCV002210681] Chr2:232334361 [GRCh38]
Chr2:233199071 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+11A>G single nucleotide variant Perlman syndrome [RCV002105783] Chr2:232130730 [GRCh38]
Chr2:232995440 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2289+20G>T single nucleotide variant Perlman syndrome [RCV002189739] Chr2:232334519 [GRCh38]
Chr2:233199229 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1143C>T (p.Thr381=) single nucleotide variant Perlman syndrome [RCV002188022] Chr2:232210344 [GRCh38]
Chr2:233075054 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+14G>T single nucleotide variant Perlman syndrome [RCV002090902] Chr2:232136733 [GRCh38]
Chr2:233001443 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-17A>G single nucleotide variant Perlman syndrome [RCV002087847] Chr2:232136455 [GRCh38]
Chr2:233001165 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.954G>A (p.Gln318=) single nucleotide variant Perlman syndrome [RCV002091102] Chr2:232163462 [GRCh38]
Chr2:233028172 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-15C>G single nucleotide variant Perlman syndrome [RCV002168915] Chr2:232333825 [GRCh38]
Chr2:233198535 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-8C>T single nucleotide variant Perlman syndrome [RCV002210144] Chr2:232335765 [GRCh38]
Chr2:233200475 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2055G>A (p.Gln685=) single nucleotide variant Perlman syndrome [RCV002089468] Chr2:232333884 [GRCh38]
Chr2:233198594 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+11C>T single nucleotide variant Perlman syndrome [RCV002188362] Chr2:232335885 [GRCh38]
Chr2:233200595 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1739+19A>T single nucleotide variant Perlman syndrome [RCV002165604] Chr2:232300138 [GRCh38]
Chr2:233164848 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53-16T>C single nucleotide variant Perlman syndrome [RCV002071497] Chr2:232015498 [GRCh38]
Chr2:232880208 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1020T>C (p.Tyr340=) single nucleotide variant Perlman syndrome [RCV002208481] Chr2:232163528 [GRCh38]
Chr2:233028238 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2010+19C>T single nucleotide variant Perlman syndrome [RCV002128267] Chr2:232330795 [GRCh38]
Chr2:233195505 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+21dup duplication Perlman syndrome [RCV002210054] Chr2:232334753..232334754 [GRCh38]
Chr2:233199463..233199464 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2052G>T (p.Ala684=) single nucleotide variant Perlman syndrome [RCV002088662] Chr2:232333881 [GRCh38]
Chr2:233198591 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+9T>A single nucleotide variant Perlman syndrome [RCV002073705] Chr2:232136728 [GRCh38]
Chr2:233001438 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-11C>G single nucleotide variant Perlman syndrome [RCV002168086] Chr2:232334358 [GRCh38]
Chr2:233199068 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+9G>A single nucleotide variant Perlman syndrome [RCV002185941] Chr2:232210414 [GRCh38]
Chr2:233075124 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.601+19T>C single nucleotide variant Perlman syndrome [RCV002205941] Chr2:232087740 [GRCh38]
Chr2:232952450 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1530G>C (p.Ala510=) single nucleotide variant Perlman syndrome [RCV002168257] Chr2:232263311 [GRCh38]
Chr2:233128021 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1968C>A (p.Ala656=) single nucleotide variant Perlman syndrome [RCV002210155] Chr2:232330734 [GRCh38]
Chr2:233195444 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+15G>T single nucleotide variant Perlman syndrome [RCV002165715] Chr2:232136734 [GRCh38]
Chr2:233001444 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2298C>T (p.Gly766=) single nucleotide variant Perlman syndrome [RCV002074618] Chr2:232334639 [GRCh38]
Chr2:233199349 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.366+16C>T single nucleotide variant Perlman syndrome [RCV002108573] Chr2:232030096 [GRCh38]
Chr2:232894806 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-12_2395-9dup duplication Perlman syndrome [RCV002185408] Chr2:232335758..232335759 [GRCh38]
Chr2:233200468..233200469 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+18G>T single nucleotide variant Perlman syndrome [RCV002190176] Chr2:232334005 [GRCh38]
Chr2:233198715 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-11T>C single nucleotide variant Perlman syndrome [RCV002109820] Chr2:232249228 [GRCh38]
Chr2:233113938 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+20C>T single nucleotide variant Perlman syndrome [RCV002191710] Chr2:232330016 [GRCh38]
Chr2:233194726 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.378A>G (p.Pro126=) single nucleotide variant Perlman syndrome [RCV002209957] Chr2:232087498 [GRCh38]
Chr2:232952208 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.753C>G (p.Leu251=) single nucleotide variant Perlman syndrome [RCV002192075] Chr2:232136522 [GRCh38]
Chr2:233001232 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+18A>C single nucleotide variant Perlman syndrome [RCV002190305] Chr2:232210423 [GRCh38]
Chr2:233075133 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1254G>T (p.Pro418=) single nucleotide variant Perlman syndrome [RCV002117209] Chr2:232238582 [GRCh38]
Chr2:233103292 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1205-20T>G single nucleotide variant Perlman syndrome [RCV002191125] Chr2:232238513 [GRCh38]
Chr2:233103223 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1608C>T (p.Ala536=) single nucleotide variant Perlman syndrome [RCV002151083] Chr2:232263389 [GRCh38]
Chr2:233128099 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1761C>T (p.Leu587=) single nucleotide variant Perlman syndrome [RCV002096683] Chr2:232329834 [GRCh38]
Chr2:233194544 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1482C>T (p.Tyr494=) single nucleotide variant Perlman syndrome [RCV002113965] Chr2:232263263 [GRCh38]
Chr2:233127973 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1194A>G (p.Pro398=) single nucleotide variant Perlman syndrome [RCV002147513] Chr2:232210395 [GRCh38]
Chr2:233075105 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53-13C>G single nucleotide variant Perlman syndrome [RCV002095776] Chr2:232015501 [GRCh38]
Chr2:232880211 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2556G>A (p.Lys852=) single nucleotide variant Perlman syndrome [RCV002193592] Chr2:232336528 [GRCh38]
Chr2:233201238 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+11_2158+12del deletion Perlman syndrome [RCV002133856] Chr2:232333998..232333999 [GRCh38]
Chr2:233198708..233198709 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+14T>A single nucleotide variant Perlman syndrome [RCV002084646] Chr2:232210419 [GRCh38]
Chr2:233075129 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2238C>G (p.Ser746=) single nucleotide variant Perlman syndrome [RCV002211513] Chr2:232334448 [GRCh38]
Chr2:233199158 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2091A>G (p.Thr697=) single nucleotide variant Perlman syndrome [RCV002071121] Chr2:232333920 [GRCh38]
Chr2:233198630 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+16G>C single nucleotide variant Perlman syndrome [RCV002072866] Chr2:232334751 [GRCh38]
Chr2:233199461 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2497-18C>T single nucleotide variant Perlman syndrome [RCV002115160] Chr2:232336451 [GRCh38]
Chr2:233201161 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.265-19A>G single nucleotide variant Perlman syndrome [RCV002094754] Chr2:232029960 [GRCh38]
Chr2:232894670 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+8G>T single nucleotide variant Perlman syndrome [RCV002133245] Chr2:232333995 [GRCh38]
Chr2:233198705 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.52+17G>A single nucleotide variant Perlman syndrome [RCV002149979] Chr2:232014996 [GRCh38]
Chr2:232879706 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1662A>G (p.Leu554=) single nucleotide variant Perlman syndrome [RCV002197496] Chr2:232300042 [GRCh38]
Chr2:233164752 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-7T>C single nucleotide variant Perlman syndrome [RCV002078398] Chr2:232249232 [GRCh38]
Chr2:233113942 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-18T>G single nucleotide variant Perlman syndrome [RCV002129893] Chr2:232335755 [GRCh38]
Chr2:233200465 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+39T>G single nucleotide variant DIS3L2-related disorder [RCV003926328]|not provided [RCV002214215] Chr2:232130758 [GRCh38]
Chr2:232995468 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_152383.5(DIS3L2):c.1205-9C>T single nucleotide variant Perlman syndrome [RCV002077881] Chr2:232238524 [GRCh38]
Chr2:233103234 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+14C>T single nucleotide variant Perlman syndrome [RCV002175067] Chr2:232249360 [GRCh38]
Chr2:233114070 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1124+20T>A single nucleotide variant Perlman syndrome [RCV002131035] Chr2:232163652 [GRCh38]
Chr2:233028362 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.525A>T (p.Ser175=) single nucleotide variant Perlman syndrome [RCV002193253] Chr2:232087645 [GRCh38]
Chr2:232952355 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1854C>T (p.Leu618=) single nucleotide variant Perlman syndrome [RCV002216294] Chr2:232329927 [GRCh38]
Chr2:233194637 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-11C>A single nucleotide variant Perlman syndrome [RCV002130196] Chr2:232334358 [GRCh38]
Chr2:233199068 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-8_2159-7del microsatellite Perlman syndrome [RCV002097159] Chr2:232334359..232334360 [GRCh38]
Chr2:233199069..233199070 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2406G>A (p.Leu802=) single nucleotide variant Perlman syndrome [RCV002216302] Chr2:232335784 [GRCh38]
Chr2:233200494 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1963C>T (p.Leu655=) single nucleotide variant Perlman syndrome [RCV002212003] Chr2:232330729 [GRCh38]
Chr2:233195439 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+16G>A single nucleotide variant Perlman syndrome [RCV002210760] Chr2:232334003 [GRCh38]
Chr2:233198713 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1872C>T (p.Phe624=) single nucleotide variant Perlman syndrome [RCV002116282] Chr2:232329945 [GRCh38]
Chr2:233194655 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.264+18A>G single nucleotide variant Perlman syndrome [RCV002117150] Chr2:232024348 [GRCh38]
Chr2:232889058 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-20G>A single nucleotide variant Perlman syndrome [RCV002135278] Chr2:232335753 [GRCh38]
Chr2:233200463 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2199G>A (p.Gln733=) single nucleotide variant Perlman syndrome [RCV002114562] Chr2:232334409 [GRCh38]
Chr2:233199119 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-15C>G single nucleotide variant Perlman syndrome [RCV002212971] Chr2:232136457 [GRCh38]
Chr2:233001167 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1485G>A (p.Glu495=) single nucleotide variant Perlman syndrome [RCV002131681] Chr2:232263266 [GRCh38]
Chr2:233127976 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-13G>A single nucleotide variant Perlman syndrome [RCV002195789] Chr2:232249226 [GRCh38]
Chr2:233113936 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1692C>G (p.Thr564=) single nucleotide variant Perlman syndrome [RCV002209138] Chr2:232300072 [GRCh38]
Chr2:233164782 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2289+10_2289+11insACCTTGACCTTGAC insertion Perlman syndrome [RCV002213087] Chr2:232334508..232334509 [GRCh38]
Chr2:233199218..233199219 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+20C>A single nucleotide variant Perlman syndrome [RCV002095284] Chr2:232334755 [GRCh38]
Chr2:233199465 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-16G>T single nucleotide variant Perlman syndrome [RCV002192778] Chr2:232335757 [GRCh38]
Chr2:233200467 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-15T>C single nucleotide variant Perlman syndrome [RCV002188255] Chr2:232024262 [GRCh38]
Chr2:232888972 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-17T>C single nucleotide variant Perlman syndrome [RCV002209422] Chr2:232335756 [GRCh38]
Chr2:233200466 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1739+13G>C single nucleotide variant Perlman syndrome [RCV002114009] Chr2:232300132 [GRCh38]
Chr2:233164842 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-6T>C single nucleotide variant Perlman syndrome [RCV002077582] Chr2:232210320 [GRCh38]
Chr2:233075030 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-13C>T single nucleotide variant Perlman syndrome [RCV002173340] Chr2:232210313 [GRCh38]
Chr2:233075023 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-19A>G single nucleotide variant Perlman syndrome [RCV002079240] Chr2:232136453 [GRCh38]
Chr2:233001163 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1968C>T (p.Ala656=) single nucleotide variant Perlman syndrome [RCV002089988] Chr2:232330734 [GRCh38]
Chr2:233195444 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2238C>A (p.Ser746=) single nucleotide variant Perlman syndrome [RCV002104680] Chr2:232334448 [GRCh38]
Chr2:233199158 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2010+16C>T single nucleotide variant Perlman syndrome [RCV002076494] Chr2:232330792 [GRCh38]
Chr2:233195502 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+8C>G single nucleotide variant Perlman syndrome [RCV002215397] Chr2:232249354 [GRCh38]
Chr2:233114064 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2031G>C (p.Ser677=) single nucleotide variant Perlman syndrome [RCV002116566] Chr2:232333860 [GRCh38]
Chr2:233198570 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+16G>A single nucleotide variant Perlman syndrome [RCV002125618]|not provided [RCV004711856] Chr2:232334751 [GRCh38]
Chr2:233199461 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+12del deletion Perlman syndrome [RCV002211747] Chr2:232210415 [GRCh38]
Chr2:233075125 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.210+12C>A single nucleotide variant Perlman syndrome [RCV002171972] Chr2:232015683 [GRCh38]
Chr2:232880393 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+16T>C single nucleotide variant Perlman syndrome [RCV002093241] Chr2:232335890 [GRCh38]
Chr2:233200600 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2353C>T (p.Leu785=) single nucleotide variant Perlman syndrome [RCV002166761] Chr2:232334694 [GRCh38]
Chr2:233199404 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-14C>T single nucleotide variant Perlman syndrome [RCV002092264] Chr2:232334355 [GRCh38]
Chr2:233199065 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-12T>C single nucleotide variant Perlman syndrome [RCV002150127] Chr2:232024265 [GRCh38]
Chr2:232888975 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2427G>A (p.Lys809=) single nucleotide variant Perlman syndrome [RCV002095146] Chr2:232335805 [GRCh38]
Chr2:233200515 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+11G>T single nucleotide variant Perlman syndrome [RCV002121274] Chr2:232263451 [GRCh38]
Chr2:233128161 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+10C>T single nucleotide variant Perlman syndrome [RCV002101725] Chr2:232136729 [GRCh38]
Chr2:233001439 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-10dup duplication Perlman syndrome [RCV002123005] Chr2:232024261..232024262 [GRCh38]
Chr2:232888971..232888972 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1659+18dup duplication Perlman syndrome [RCV002121021] Chr2:232263451..232263452 [GRCh38]
Chr2:233128161..233128162 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.27C>T (p.Asn9=) single nucleotide variant Perlman syndrome [RCV002119407] Chr2:232014954 [GRCh38]
Chr2:232879664 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53-20T>C single nucleotide variant Perlman syndrome [RCV002101568] Chr2:232015494 [GRCh38]
Chr2:232880204 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+17G>T single nucleotide variant Perlman syndrome [RCV002157907] Chr2:232335891 [GRCh38]
Chr2:233200601 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2262C>T (p.Thr754=) single nucleotide variant Perlman syndrome [RCV002175354] Chr2:232334472 [GRCh38]
Chr2:233199182 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.602-19_602-16del deletion Perlman syndrome [RCV002102036] Chr2:232130599..232130602 [GRCh38]
Chr2:232995309..232995312 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1890G>A (p.Leu630=) single nucleotide variant Perlman syndrome [RCV002117748] Chr2:232329963 [GRCh38]
Chr2:233194673 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+16G>A single nucleotide variant Perlman syndrome [RCV002137362] Chr2:232330012 [GRCh38]
Chr2:233194722 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+18G>A single nucleotide variant Perlman syndrome [RCV002218532] Chr2:232334753 [GRCh38]
Chr2:233199463 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-14C>A single nucleotide variant Perlman syndrome [RCV002157899] Chr2:232334355 [GRCh38]
Chr2:233199065 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-8C>T single nucleotide variant Perlman syndrome [RCV002098262] Chr2:232300032 [GRCh38]
Chr2:233164742 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.948G>C (p.Leu316=) single nucleotide variant Perlman syndrome [RCV002179530] Chr2:232136717 [GRCh38]
Chr2:233001427 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+15C>T single nucleotide variant Perlman syndrome [RCV002098338] Chr2:232334002 [GRCh38]
Chr2:233198712 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+15del deletion Perlman syndrome [RCV002102531] Chr2:232210418 [GRCh38]
Chr2:233075128 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1545C>T (p.Pro515=) single nucleotide variant Perlman syndrome [RCV002179818] Chr2:232263326 [GRCh38]
Chr2:233128036 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1407A>G (p.Thr469=) single nucleotide variant Perlman syndrome [RCV002178013] Chr2:232249328 [GRCh38]
Chr2:233114038 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.601+13C>T single nucleotide variant Perlman syndrome [RCV002120295] Chr2:232087734 [GRCh38]
Chr2:232952444 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.213T>C (p.Gly71=) single nucleotide variant Perlman syndrome [RCV002155014] Chr2:232024279 [GRCh38]
Chr2:232888989 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+9G>A single nucleotide variant Perlman syndrome [RCV002182004] Chr2:232263449 [GRCh38]
Chr2:233128159 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2352G>A (p.Val784=) single nucleotide variant Perlman syndrome [RCV002120785] Chr2:232334693 [GRCh38]
Chr2:233199403 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.601+15A>G single nucleotide variant Perlman syndrome [RCV002220251] Chr2:232087736 [GRCh38]
Chr2:232952446 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=) single nucleotide variant Perlman syndrome [RCV002197753] Chr2:232136549 [GRCh38]
Chr2:233001259 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.1425+8C>A single nucleotide variant Perlman syndrome [RCV002083200] Chr2:232249354 [GRCh38]
Chr2:233114064 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2580A>T (p.Pro860=) single nucleotide variant Perlman syndrome [RCV002144420] Chr2:232336552 [GRCh38]
Chr2:233201262 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1467C>T (p.Cys489=) single nucleotide variant Perlman syndrome [RCV002158192] Chr2:232263248 [GRCh38]
Chr2:233127958 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1739+17G>C single nucleotide variant Perlman syndrome [RCV002163522] Chr2:232300136 [GRCh38]
Chr2:233164846 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-17A>T single nucleotide variant Perlman syndrome [RCV002198226] Chr2:232136455 [GRCh38]
Chr2:233001165 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2544C>T (p.Ser848=) single nucleotide variant Perlman syndrome [RCV002098554] Chr2:232336516 [GRCh38]
Chr2:233201226 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1032C>T (p.Phe344=) single nucleotide variant Perlman syndrome [RCV002083974] Chr2:232163540 [GRCh38]
Chr2:233028250 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+15G>A single nucleotide variant Perlman syndrome [RCV002204333] Chr2:232136734 [GRCh38]
Chr2:233001444 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1426-19A>G single nucleotide variant Perlman syndrome [RCV002136259] Chr2:232263188 [GRCh38]
Chr2:233127898 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+14C>A single nucleotide variant Perlman syndrome [RCV002141966] Chr2:232249360 [GRCh38]
Chr2:233114070 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-11C>T single nucleotide variant Perlman syndrome [RCV002176190] Chr2:232210315 [GRCh38]
Chr2:233075025 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.555G>A (p.Val185=) single nucleotide variant Perlman syndrome [RCV002158778] Chr2:232087675 [GRCh38]
Chr2:232952385 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-2A>G single nucleotide variant Perlman syndrome [RCV002204552] Chr2:232210324 [GRCh38]
Chr2:233075034 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.53-15G>A single nucleotide variant Perlman syndrome [RCV002098929] Chr2:232015499 [GRCh38]
Chr2:232880209 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2247G>T (p.Val749=) single nucleotide variant Perlman syndrome [RCV002178217] Chr2:232334457 [GRCh38]
Chr2:233199167 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53-19T>C single nucleotide variant Perlman syndrome [RCV002140122] Chr2:232015495 [GRCh38]
Chr2:232880205 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2010+12C>G single nucleotide variant Perlman syndrome [RCV002164276] Chr2:232330788 [GRCh38]
Chr2:233195498 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-7T>C single nucleotide variant Perlman syndrome [RCV002164352] Chr2:232163452 [GRCh38]
Chr2:233028162 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.945C>G (p.Ala315=) single nucleotide variant Perlman syndrome [RCV002164475] Chr2:232136714 [GRCh38]
Chr2:233001424 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.1644T>C (p.Asp548=) single nucleotide variant Perlman syndrome [RCV002257277]|not provided [RCV003438984] Chr2:232343407 [GRCh38]
Chr2:233208117 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2154G>C (p.Ala718=) single nucleotide variant Perlman syndrome [RCV002218072] Chr2:232333983 [GRCh38]
Chr2:233198693 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.929A>C (p.Glu310Ala) single nucleotide variant Perlman syndrome [RCV002255830] Chr2:232136698 [GRCh38]
Chr2:233001408 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1426-14G>C single nucleotide variant Perlman syndrome [RCV002201359] Chr2:232263193 [GRCh38]
Chr2:233127903 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2010+16C>A single nucleotide variant Perlman syndrome [RCV002162635] Chr2:232330792 [GRCh38]
Chr2:233195502 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1719T>C (p.Tyr573=) single nucleotide variant Perlman syndrome [RCV002162711] Chr2:232300099 [GRCh38]
Chr2:233164809 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1527T>A (p.Pro509=) single nucleotide variant Perlman syndrome [RCV002184167] Chr2:232263308 [GRCh38]
Chr2:233128018 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.602-15_602-14del deletion Perlman syndrome [RCV002197885] Chr2:232130603..232130604 [GRCh38]
Chr2:232995313..232995314 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-16A>T single nucleotide variant Perlman syndrome [RCV002163069] Chr2:232024261 [GRCh38]
Chr2:232888971 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-13G>T single nucleotide variant Perlman syndrome [RCV002101992] Chr2:232335760 [GRCh38]
Chr2:233200470 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity
NM_152383.5(DIS3L2):c.52+10G>T single nucleotide variant Perlman syndrome [RCV002182697] Chr2:232014989 [GRCh38]
Chr2:232879699 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.264+20A>G single nucleotide variant Perlman syndrome [RCV002104059] Chr2:232024350 [GRCh38]
Chr2:232889060 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1551C>G (p.Ser517=) single nucleotide variant Perlman syndrome [RCV002202122] Chr2:232263332 [GRCh38]
Chr2:233128042 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1959C>T (p.Tyr653=) single nucleotide variant Perlman syndrome [RCV002123385] Chr2:232330725 [GRCh38]
Chr2:233195435 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2331C>A (p.Ile777=) single nucleotide variant Perlman syndrome [RCV002183006] Chr2:232334672 [GRCh38]
Chr2:233199382 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1932G>A (p.Leu644=) single nucleotide variant Perlman syndrome [RCV002104118] Chr2:232330698 [GRCh38]
Chr2:233195408 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.366+19_366+22del deletion Perlman syndrome [RCV002154723] Chr2:232030097..232030100 [GRCh38]
Chr2:232894807..232894810 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-10G>A single nucleotide variant Perlman syndrome [RCV002200639] Chr2:232136462 [GRCh38]
Chr2:233001172 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2481G>A (p.Gln827=) single nucleotide variant Perlman syndrome [RCV002157380] Chr2:232335859 [GRCh38]
Chr2:233200569 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1739+15G>T single nucleotide variant Perlman syndrome [RCV002138868] Chr2:232300134 [GRCh38]
Chr2:233164844 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1716C>A (p.Ile572=) single nucleotide variant Perlman syndrome [RCV002082979] Chr2:232300096 [GRCh38]
Chr2:233164806 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.957G>T (p.Leu319=) single nucleotide variant Perlman syndrome [RCV002178945] Chr2:232163465 [GRCh38]
Chr2:233028175 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-11C>T single nucleotide variant Perlman syndrome [RCV002119884] Chr2:232334358 [GRCh38]
Chr2:233199068 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+18T>C single nucleotide variant Perlman syndrome [RCV002202015] Chr2:232335892 [GRCh38]
Chr2:233200602 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1179C>T (p.Ala393=) single nucleotide variant Perlman syndrome [RCV002135870] Chr2:232210380 [GRCh38]
Chr2:233075090 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-12C>T single nucleotide variant Perlman syndrome [RCV002083760] Chr2:232333828 [GRCh38]
Chr2:233198538 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2290-18G>A single nucleotide variant Perlman syndrome [RCV002120254] Chr2:232334613 [GRCh38]
Chr2:233199323 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+12A>G single nucleotide variant Perlman syndrome [RCV002120410] Chr2:232210417 [GRCh38]
Chr2:233075127 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.408G>C (p.Ala136=) single nucleotide variant Perlman syndrome [RCV002082470] Chr2:232087528 [GRCh38]
Chr2:232952238 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.480C>T (p.Asp160=) single nucleotide variant Perlman syndrome [RCV002198875] Chr2:232087600 [GRCh38]
Chr2:232952310 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.602-16T>C single nucleotide variant Perlman syndrome [RCV002219850] Chr2:232130603 [GRCh38]
Chr2:232995313 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.291T>C (p.Asp97=) single nucleotide variant Perlman syndrome [RCV002142053] Chr2:232030005 [GRCh38]
Chr2:232894715 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-20C>T single nucleotide variant Perlman syndrome [RCV002163090] Chr2:232163439 [GRCh38]
Chr2:233028149 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2017C>T (p.Leu673=) single nucleotide variant Perlman syndrome [RCV002178888] Chr2:232333846 [GRCh38]
Chr2:233198556 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2497-15C>T single nucleotide variant DIS3L2-related disorder [RCV003933616]|Perlman syndrome [RCV002138841] Chr2:232336454 [GRCh38]
Chr2:233201164 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-14T>C single nucleotide variant Perlman syndrome [RCV002083141] Chr2:232024263 [GRCh38]
Chr2:232888973 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+3G>A single nucleotide variant Perlman syndrome [RCV002177134] Chr2:232334738 [GRCh38]
Chr2:233199448 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+6A>T single nucleotide variant Perlman syndrome [RCV003110589] Chr2:232210411 [GRCh38]
Chr2:233075121 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1653G>A (p.Leu551=) single nucleotide variant Perlman syndrome [RCV003110629] Chr2:232263434 [GRCh38]
Chr2:233128144 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.513T>C (p.Asp171=) single nucleotide variant Perlman syndrome [RCV003118016] Chr2:232087633 [GRCh38]
Chr2:232952343 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.259T>A (p.Ser87Thr) single nucleotide variant Perlman syndrome [RCV003113066] Chr2:232024325 [GRCh38]
Chr2:232889035 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1027G>C (p.Asp343His) single nucleotide variant Perlman syndrome [RCV003118369] Chr2:232163535 [GRCh38]
Chr2:233028245 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1256A>G (p.Glu419Gly) single nucleotide variant Perlman syndrome [RCV003116019] Chr2:232238584 [GRCh38]
Chr2:233103294 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2003C>G (p.Pro668Arg) single nucleotide variant Perlman syndrome [RCV003117069] Chr2:232330769 [GRCh38]
Chr2:233195479 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233075026)_(233075125_?)del deletion Perlman syndrome [RCV003113690] Chr2:233075026..233075125 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233103223)_(233103375_?)del deletion Perlman syndrome [RCV003113691] Chr2:233103223..233103375 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233127907)_(233128160_?)del deletion Perlman syndrome [RCV003113692] Chr2:233127907..233128160 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233075026)_(233128160_?)del deletion Perlman syndrome [RCV003113693] Chr2:233075026..233128160 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233103233)_(233128160_?)del deletion Perlman syndrome [RCV003113694] Chr2:233103233..233128160 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_232879638)_(232894800_?)del deletion Perlman syndrome [RCV003113695] Chr2:232879638..232894800 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_232952187)_(233201340_?)del deletion Perlman syndrome [RCV003113696] Chr2:232952187..233201340 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_232995309)_(233028362_?)del deletion Perlman syndrome [RCV003113697] Chr2:232995309..233028362 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233164740)_(233201340_?)dup duplication Perlman syndrome [RCV003113698] Chr2:233164740..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_232879638)_(233114066_?)dup duplication Perlman syndrome [RCV003113699] Chr2:232879638..233114066 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233198530)_(233201340_?)dup duplication Perlman syndrome [RCV003113700] Chr2:233198530..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1905C>G (p.Ser635Arg) single nucleotide variant Perlman syndrome [RCV003115559] Chr2:232329978 [GRCh38]
Chr2:233194688 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1764G>A (p.Leu588=) single nucleotide variant Perlman syndrome [RCV003112853] Chr2:232329837 [GRCh38]
Chr2:233194547 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2139C>T (p.Arg713=) single nucleotide variant Perlman syndrome [RCV003118504] Chr2:232333968 [GRCh38]
Chr2:233198678 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2653A>T (p.Ser885Cys) single nucleotide variant Perlman syndrome [RCV003121852] Chr2:232336625 [GRCh38]
Chr2:233201335 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-10C>G single nucleotide variant Perlman syndrome [RCV003121462] Chr2:232334359 [GRCh38]
Chr2:233199069 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1678C>T (p.Leu560=) single nucleotide variant Perlman syndrome [RCV003121571] Chr2:232300058 [GRCh38]
Chr2:233164768 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.1780G>C (p.Val594Leu) single nucleotide variant Perlman syndrome [RCV002258587] Chr2:232343543 [GRCh38]
Chr2:233208253 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2299C>T (p.Pro767Ser) single nucleotide variant Perlman syndrome [RCV002290251] Chr2:232334640 [GRCh38]
Chr2:233199350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.493A>G (p.Ile165Val) single nucleotide variant Inborn genetic diseases [RCV003262003] Chr2:232087613 [GRCh38]
Chr2:232952323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2342C>A (p.Ala781Asp) single nucleotide variant Perlman syndrome [RCV002304499] Chr2:232334683 [GRCh38]
Chr2:233199393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.890C>T (p.Ala297Val) single nucleotide variant Perlman syndrome [RCV002305066] Chr2:232136659 [GRCh38]
Chr2:233001369 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2446C>T (p.Leu816Phe) single nucleotide variant Perlman syndrome [RCV002305229] Chr2:232335824 [GRCh38]
Chr2:233200534 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1814C>T (p.Ala605Val) single nucleotide variant Perlman syndrome [RCV002295619] Chr2:232329887 [GRCh38]
Chr2:233194597 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.814G>T (p.Asp272Tyr) single nucleotide variant Perlman syndrome [RCV002299736] Chr2:232136583 [GRCh38]
Chr2:233001293 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2297G>T (p.Gly766Val) single nucleotide variant Perlman syndrome [RCV002294839] Chr2:232334638 [GRCh38]
Chr2:233199348 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2440C>G (p.Pro814Ala) single nucleotide variant Perlman syndrome [RCV002295466] Chr2:232335818 [GRCh38]
Chr2:233200528 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.385A>C (p.Asn129His) single nucleotide variant Perlman syndrome [RCV002301787] Chr2:232087505 [GRCh38]
Chr2:232952215 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2380C>G (p.Arg794Gly) single nucleotide variant Perlman syndrome [RCV002303393] Chr2:232334721 [GRCh38]
Chr2:233199431 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1375T>C (p.Ser459Pro) single nucleotide variant Perlman syndrome [RCV002300043] Chr2:232249296 [GRCh38]
Chr2:233114006 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2015C>G (p.Ala672Gly) single nucleotide variant Perlman syndrome [RCV002295694] Chr2:232333844 [GRCh38]
Chr2:233198554 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.959C>G (p.Ala320Gly) single nucleotide variant Perlman syndrome [RCV002300106] Chr2:232163467 [GRCh38]
Chr2:233028177 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.62C>T (p.Ala21Val) single nucleotide variant Perlman syndrome [RCV002300359] Chr2:232015523 [GRCh38]
Chr2:232880233 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1783C>G (p.His595Asp) single nucleotide variant Perlman syndrome [RCV002295046] Chr2:232329856 [GRCh38]
Chr2:233194566 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1516G>A (p.Glu506Lys) single nucleotide variant Perlman syndrome [RCV002815198] Chr2:232263297 [GRCh38]
Chr2:233128007 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.44C>A (p.Thr15Asn) single nucleotide variant Perlman syndrome [RCV002681454] Chr2:232014971 [GRCh38]
Chr2:232879681 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1341G>C (p.Leu447=) single nucleotide variant Perlman syndrome [RCV002862280] Chr2:232249262 [GRCh38]
Chr2:233113972 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2614G>A (p.Glu872Lys) single nucleotide variant Perlman syndrome [RCV003032964] Chr2:232336586 [GRCh38]
Chr2:233201296 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1366A>C (p.Asn456His) single nucleotide variant Perlman syndrome [RCV002616582] Chr2:232249287 [GRCh38]
Chr2:233113997 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.784T>C (p.Phe262Leu) single nucleotide variant Perlman syndrome [RCV003015040] Chr2:232136553 [GRCh38]
Chr2:233001263 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2228G>T (p.Arg743Leu) single nucleotide variant Perlman syndrome [RCV002615647] Chr2:232334438 [GRCh38]
Chr2:233199148 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1923+10G>A single nucleotide variant Perlman syndrome [RCV003015545] Chr2:232330006 [GRCh38]
Chr2:233194716 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1948G>A (p.Asp650Asn) single nucleotide variant Perlman syndrome [RCV002972335] Chr2:232330714 [GRCh38]
Chr2:233195424 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-20A>G single nucleotide variant Perlman syndrome [RCV002970678] Chr2:232329793 [GRCh38]
Chr2:233194503 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.211-16A>G single nucleotide variant Perlman syndrome [RCV002967567] Chr2:232024261 [GRCh38]
Chr2:232888971 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1835C>G (p.Pro612Arg) single nucleotide variant Perlman syndrome [RCV002975547] Chr2:232329908 [GRCh38]
Chr2:233194618 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.304C>T (p.Arg102Cys) single nucleotide variant Perlman syndrome [RCV003076300] Chr2:232030018 [GRCh38]
Chr2:232894728 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.720G>T (p.Glu240Asp) single nucleotide variant Perlman syndrome [RCV003033859] Chr2:232136489 [GRCh38]
Chr2:233001199 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-15C>G single nucleotide variant Perlman syndrome [RCV002618033] Chr2:232029964 [GRCh38]
Chr2:232894674 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+7A>G single nucleotide variant Perlman syndrome [RCV002727046] Chr2:232263447 [GRCh38]
Chr2:233128157 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2250G>A (p.Gln750=) single nucleotide variant Perlman syndrome [RCV002617919] Chr2:232334460 [GRCh38]
Chr2:233199170 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.67G>T (p.Ala23Ser) single nucleotide variant Perlman syndrome [RCV002636060] Chr2:232015528 [GRCh38]
Chr2:232880238 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1036G>A (p.Asp346Asn) single nucleotide variant Perlman syndrome [RCV002947772] Chr2:232163544 [GRCh38]
Chr2:233028254 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2051C>A (p.Ala684Glu) single nucleotide variant Perlman syndrome [RCV002908670] Chr2:232333880 [GRCh38]
Chr2:233198590 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.950+12C>G single nucleotide variant Perlman syndrome [RCV002842745] Chr2:232136731 [GRCh38]
Chr2:233001441 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.735A>G (p.Arg245=) single nucleotide variant Perlman syndrome [RCV002975541] Chr2:232136504 [GRCh38]
Chr2:233001214 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1794C>T (p.His598=) single nucleotide variant Perlman syndrome [RCV002690126] Chr2:232329867 [GRCh38]
Chr2:233194577 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2102C>T (p.Ser701Leu) single nucleotide variant Inborn genetic diseases [RCV002880299]|Perlman syndrome [RCV002880298] Chr2:232333931 [GRCh38]
Chr2:233198641 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.172G>T (p.Asp58Tyr) single nucleotide variant Perlman syndrome [RCV003074134] Chr2:232015633 [GRCh38]
Chr2:232880343 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1971C>A (p.Arg657=) single nucleotide variant Perlman syndrome [RCV002616608] Chr2:232330737 [GRCh38]
Chr2:233195447 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-10C>T single nucleotide variant Perlman syndrome [RCV002967874] Chr2:232249229 [GRCh38]
Chr2:233113939 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.54T>A (p.Gly18=) single nucleotide variant Perlman syndrome [RCV002862047] Chr2:232015515 [GRCh38]
Chr2:232880225 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1659+5G>A single nucleotide variant Perlman syndrome [RCV003015723] Chr2:232263445 [GRCh38]
Chr2:233128155 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2651C>G (p.Thr884Ser) single nucleotide variant Perlman syndrome [RCV002776232] Chr2:232336623 [GRCh38]
Chr2:233201333 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2132T>G (p.Val711Gly) single nucleotide variant Perlman syndrome [RCV003014988] Chr2:232333961 [GRCh38]
Chr2:233198671 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1015G>C (p.Glu339Gln) single nucleotide variant Perlman syndrome [RCV003073887] Chr2:232163523 [GRCh38]
Chr2:233028233 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-4G>T single nucleotide variant Perlman syndrome [RCV003074782] Chr2:232329809 [GRCh38]
Chr2:233194519 [GRCh37]
Chr2:2q37.1		 likely benign
GRCh38/hg38 2q37.1(chr2:232154529-232177529)x0 copy number loss Perlman syndrome [RCV002511172] Chr2:232154529..232177529 [GRCh38]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1562G>C (p.Ser521Thr) single nucleotide variant Perlman syndrome [RCV003033891] Chr2:232263343 [GRCh38]
Chr2:233128053 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.500A>T (p.Glu167Val) single nucleotide variant Perlman syndrome [RCV002616419] Chr2:232087620 [GRCh38]
Chr2:232952330 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2151C>G (p.Ala717=) single nucleotide variant Perlman syndrome [RCV002841997] Chr2:232333980 [GRCh38]
Chr2:233198690 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+15G>A single nucleotide variant Perlman syndrome [RCV002617133] Chr2:232249361 [GRCh38]
Chr2:233114071 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1568A>G (p.Glu523Gly) single nucleotide variant Perlman syndrome [RCV002842860] Chr2:232263349 [GRCh38]
Chr2:233128059 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.422T>G (p.Ile141Ser) single nucleotide variant Perlman syndrome [RCV003015900] Chr2:232087542 [GRCh38]
Chr2:232952252 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.210+17G>C single nucleotide variant Perlman syndrome [RCV002975348] Chr2:232015688 [GRCh38]
Chr2:232880398 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1552C>T (p.Pro518Ser) single nucleotide variant Perlman syndrome [RCV002970734] Chr2:232263333 [GRCh38]
Chr2:233128043 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.276A>G (p.Arg92=) single nucleotide variant Perlman syndrome [RCV002997025] Chr2:232029990 [GRCh38]
Chr2:232894700 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2526G>A (p.Val842=) single nucleotide variant Perlman syndrome [RCV002858105] Chr2:232336498 [GRCh38]
Chr2:233201208 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2399T>C (p.Leu800Pro) single nucleotide variant Inborn genetic diseases [RCV004073189]|Perlman syndrome [RCV003099016] Chr2:232335777 [GRCh38]
Chr2:233200487 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1522A>G (p.Ile508Val) single nucleotide variant Perlman syndrome [RCV002730595] Chr2:232263303 [GRCh38]
Chr2:233128013 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2158+8G>C single nucleotide variant Perlman syndrome [RCV003074064] Chr2:232333995 [GRCh38]
Chr2:233198705 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+12T>C single nucleotide variant Perlman syndrome [RCV002881773] Chr2:232263452 [GRCh38]
Chr2:233128162 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.773A>T (p.Asn258Ile) single nucleotide variant Perlman syndrome [RCV002907949] Chr2:232136542 [GRCh38]
Chr2:233001252 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1364T>C (p.Leu455Pro) single nucleotide variant Perlman syndrome [RCV002996853] Chr2:232249285 [GRCh38]
Chr2:233113995 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.202C>G (p.Leu68Val) single nucleotide variant Perlman syndrome [RCV002996168] Chr2:232015663 [GRCh38]
Chr2:232880373 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1426-12C>G single nucleotide variant Perlman syndrome [RCV003095388] Chr2:232263195 [GRCh38]
Chr2:233127905 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2432G>T (p.Gly811Val) single nucleotide variant Perlman syndrome [RCV002994763] Chr2:232335810 [GRCh38]
Chr2:233200520 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-13C>G single nucleotide variant Perlman syndrome [RCV002740380] Chr2:232329800 [GRCh38]
Chr2:233194510 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.210+1G>T single nucleotide variant Perlman syndrome [RCV002999828] Chr2:232015672 [GRCh38]
Chr2:232880382 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2034G>A (p.Gly678=) single nucleotide variant Perlman syndrome [RCV002871309] Chr2:232333863 [GRCh38]
Chr2:233198573 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.571A>G (p.Lys191Glu) single nucleotide variant Perlman syndrome [RCV002926966] Chr2:232087691 [GRCh38]
Chr2:232952401 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.768T>A (p.Asp256Glu) single nucleotide variant Perlman syndrome [RCV003022005] Chr2:232136537 [GRCh38]
Chr2:233001247 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2340A>C (p.Gln780His) single nucleotide variant Perlman syndrome [RCV002640399] Chr2:232334681 [GRCh38]
Chr2:233199391 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.498A>T (p.Val166=) single nucleotide variant Perlman syndrome [RCV003021931] Chr2:232087618 [GRCh38]
Chr2:232952328 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.964A>C (p.Ser322Arg) single nucleotide variant Perlman syndrome [RCV003081709] Chr2:232163472 [GRCh38]
Chr2:233028182 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.284T>C (p.Phe95Ser) single nucleotide variant Perlman syndrome [RCV002952791] Chr2:232029998 [GRCh38]
Chr2:232894708 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-13C>G single nucleotide variant Perlman syndrome [RCV002736651] Chr2:232334356 [GRCh38]
Chr2:233199066 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.52+16T>C single nucleotide variant Perlman syndrome [RCV002953823] Chr2:232014995 [GRCh38]
Chr2:232879705 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2626G>T (p.Asp876Tyr) single nucleotide variant Perlman syndrome [RCV002953837] Chr2:232336598 [GRCh38]
Chr2:233201308 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.755A>G (p.Lys252Arg) single nucleotide variant Perlman syndrome [RCV002636285] Chr2:232136524 [GRCh38]
Chr2:233001234 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-15A>G single nucleotide variant Perlman syndrome [RCV002889761] Chr2:232329798 [GRCh38]
Chr2:233194508 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2140C>A (p.Leu714Ile) single nucleotide variant Inborn genetic diseases [RCV002849403]|Perlman syndrome [RCV003777851] Chr2:232333969 [GRCh38]
Chr2:233198679 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1318-15G>A single nucleotide variant Perlman syndrome [RCV002640325] Chr2:232249224 [GRCh38]
Chr2:233113934 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2131G>A (p.Val711Met) single nucleotide variant Perlman syndrome [RCV003080844] Chr2:232333960 [GRCh38]
Chr2:233198670 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.53-11C>T single nucleotide variant Perlman syndrome [RCV002909411] Chr2:232015503 [GRCh38]
Chr2:232880213 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.135G>A (p.Lys45=) single nucleotide variant Perlman syndrome [RCV002637126] Chr2:232015596 [GRCh38]
Chr2:232880306 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1205G>A (p.Gly402Asp) single nucleotide variant Perlman syndrome [RCV002637152] Chr2:232238533 [GRCh38]
Chr2:233103243 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2586C>G (p.Thr862=) single nucleotide variant Perlman syndrome [RCV002979142] Chr2:232336558 [GRCh38]
Chr2:233201268 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.635A>T (p.Asp212Val) single nucleotide variant Perlman syndrome [RCV003078960] Chr2:232130652 [GRCh38]
Chr2:232995362 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1986C>A (p.Thr662=) single nucleotide variant Perlman syndrome [RCV003080068] Chr2:232330752 [GRCh38]
Chr2:233195462 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.304C>G (p.Arg102Gly) single nucleotide variant Perlman syndrome [RCV002820428] Chr2:232030018 [GRCh38]
Chr2:232894728 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.211G>A (p.Gly71Ser) single nucleotide variant Perlman syndrome [RCV003020443] Chr2:232024277 [GRCh38]
Chr2:232888987 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.507G>T (p.Gln169His) single nucleotide variant Perlman syndrome [RCV002846547] Chr2:232087627 [GRCh38]
Chr2:232952337 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1133_1134del (p.Cys378fs) deletion Perlman syndrome [RCV003077494] Chr2:232210333..232210334 [GRCh38]
Chr2:233075043..233075044 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.367-13_367-12del deletion Perlman syndrome [RCV002820894] Chr2:232087473..232087474 [GRCh38]
Chr2:232952183..232952184 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1281T>C (p.Ala427=) single nucleotide variant Perlman syndrome [RCV002736232] Chr2:232238609 [GRCh38]
Chr2:233103319 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+13T>C single nucleotide variant Perlman syndrome [RCV002886003] Chr2:232263453 [GRCh38]
Chr2:233128163 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2569C>A (p.Leu857Met) single nucleotide variant Perlman syndrome [RCV002796621] Chr2:232336541 [GRCh38]
Chr2:233201251 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1411A>G (p.Thr471Ala) single nucleotide variant Perlman syndrome [RCV002736182] Chr2:232249332 [GRCh38]
Chr2:233114042 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.53-16T>G single nucleotide variant Perlman syndrome [RCV002795574] Chr2:232015498 [GRCh38]
Chr2:232880208 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2337G>A (p.Lys779=) single nucleotide variant Perlman syndrome [RCV002866597] Chr2:232334678 [GRCh38]
Chr2:233199388 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1700C>A (p.Pro567His) single nucleotide variant Perlman syndrome [RCV002706225] Chr2:232300080 [GRCh38]
Chr2:233164790 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1538T>A (p.Leu513Gln) single nucleotide variant Perlman syndrome [RCV003054303] Chr2:232263319 [GRCh38]
Chr2:233128029 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1896G>T (p.Val632=) single nucleotide variant Perlman syndrome [RCV002695641] Chr2:232329969 [GRCh38]
Chr2:233194679 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1017G>A (p.Glu339=) single nucleotide variant Perlman syndrome [RCV002780812] Chr2:232163525 [GRCh38]
Chr2:233028235 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2364C>G (p.Arg788=) single nucleotide variant Perlman syndrome [RCV002953307] Chr2:232334705 [GRCh38]
Chr2:233199415 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1478G>A (p.Ser493Asn) single nucleotide variant Perlman syndrome [RCV002998901] Chr2:232263259 [GRCh38]
Chr2:233127969 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1425+5C>A single nucleotide variant Perlman syndrome [RCV002999774] Chr2:232249351 [GRCh38]
Chr2:233114061 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.819C>T (p.His273=) single nucleotide variant Perlman syndrome [RCV002706497] Chr2:232136588 [GRCh38]
Chr2:233001298 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.869del (p.Val290fs) deletion Perlman syndrome [RCV003000031] Chr2:232136638 [GRCh38]
Chr2:233001348 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.264+1G>A single nucleotide variant DIS3L2-related disorder [RCV004750777]|Perlman syndrome [RCV002846855] Chr2:232024331 [GRCh38]
Chr2:232889041 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1062T>G (p.Cys354Trp) single nucleotide variant Perlman syndrome [RCV002847777] Chr2:232163570 [GRCh38]
Chr2:233028280 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2368G>T (p.Gly790Cys) single nucleotide variant Perlman syndrome [RCV002913100] Chr2:232334709 [GRCh38]
Chr2:233199419 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-5C>T single nucleotide variant Perlman syndrome [RCV003035690] Chr2:232334364 [GRCh38]
Chr2:233199074 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-14_1660-12del deletion Perlman syndrome [RCV002927283] Chr2:232300026..232300028 [GRCh38]
Chr2:233164736..233164738 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.52+7A>G single nucleotide variant Perlman syndrome [RCV003020955] Chr2:232014986 [GRCh38]
Chr2:232879696 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-12C>T single nucleotide variant Perlman syndrome [RCV002638636] Chr2:232334357 [GRCh38]
Chr2:233199067 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1399A>G (p.Ile467Val) single nucleotide variant Perlman syndrome [RCV002913304] Chr2:232249320 [GRCh38]
Chr2:233114030 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1304A>G (p.Tyr435Cys) single nucleotide variant Perlman syndrome [RCV002638194] Chr2:232238632 [GRCh38]
Chr2:233103342 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.906dup (p.Cys303fs) duplication Perlman syndrome [RCV002847622] Chr2:232136674..232136675 [GRCh38]
Chr2:233001384..233001385 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1598A>G (p.His533Arg) single nucleotide variant Perlman syndrome [RCV002913526] Chr2:232263379 [GRCh38]
Chr2:233128089 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2047C>G (p.Pro683Ala) single nucleotide variant Perlman syndrome [RCV003077633] Chr2:232333876 [GRCh38]
Chr2:233198586 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1739+11C>T single nucleotide variant Perlman syndrome [RCV003018879] Chr2:232300130 [GRCh38]
Chr2:233164840 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-12C>A single nucleotide variant Perlman syndrome [RCV002952538] Chr2:232329801 [GRCh38]
Chr2:233194511 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740G>A (p.Lys580=) single nucleotide variant Perlman syndrome [RCV003054895] Chr2:232329813 [GRCh38]
Chr2:233194523 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1392_1394del (p.Ser465del) deletion Perlman syndrome [RCV002848090] Chr2:232249313..232249315 [GRCh38]
Chr2:233114023..233114025 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1729G>C (p.Glu577Gln) single nucleotide variant Perlman syndrome [RCV003036460] Chr2:232300109 [GRCh38]
Chr2:233164819 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2631_2638dup (p.Glu880fs) duplication Perlman syndrome [RCV002825062] Chr2:232336601..232336602 [GRCh38]
Chr2:233201311..233201312 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.896C>G (p.Thr299Arg) single nucleotide variant Perlman syndrome [RCV002761357] Chr2:232136665 [GRCh38]
Chr2:233001375 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1739+17G>A single nucleotide variant Perlman syndrome [RCV003020263] Chr2:232300136 [GRCh38]
Chr2:233164846 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2109C>A (p.Ile703=) single nucleotide variant Perlman syndrome [RCV002847796] Chr2:232333938 [GRCh38]
Chr2:233198648 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.265-1G>A single nucleotide variant Perlman syndrome [RCV002847799] Chr2:232029978 [GRCh38]
Chr2:232894688 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1007T>C (p.Ile336Thr) single nucleotide variant Perlman syndrome [RCV003058687] Chr2:232163515 [GRCh38]
Chr2:233028225 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.899T>C (p.Leu300Pro) single nucleotide variant Perlman syndrome [RCV002828441] Chr2:232136668 [GRCh38]
Chr2:233001378 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2153C>T (p.Ala718Val) single nucleotide variant Inborn genetic diseases [RCV003162008]|Perlman syndrome [RCV002643608] Chr2:232333982 [GRCh38]
Chr2:233198692 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.226A>G (p.Asn76Asp) single nucleotide variant Perlman syndrome [RCV002597196] Chr2:232024292 [GRCh38]
Chr2:232889002 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1835C>A (p.Pro612Gln) single nucleotide variant Perlman syndrome [RCV002644486] Chr2:232329908 [GRCh38]
Chr2:233194618 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2224C>A (p.Arg742Ser) single nucleotide variant Perlman syndrome [RCV002711695] Chr2:232334434 [GRCh38]
Chr2:233199144 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.786T>G (p.Phe262Leu) single nucleotide variant Perlman syndrome [RCV003059075] Chr2:232136555 [GRCh38]
Chr2:233001265 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1697T>C (p.Leu566Ser) single nucleotide variant Perlman syndrome [RCV002668054] Chr2:232300077 [GRCh38]
Chr2:233164787 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1251T>A (p.Val417=) single nucleotide variant Perlman syndrome [RCV002801177] Chr2:232238579 [GRCh38]
Chr2:233103289 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.771G>T (p.Lys257Asn) single nucleotide variant Inborn genetic diseases [RCV002916057] Chr2:232136540 [GRCh38]
Chr2:233001250 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.669T>G (p.Ala223=) single nucleotide variant Perlman syndrome [RCV002876496] Chr2:232130686 [GRCh38]
Chr2:232995396 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1545del (p.Ile516fs) deletion Perlman syndrome [RCV002875513] Chr2:232263321 [GRCh38]
Chr2:233128031 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1039T>C (p.Phe347Leu) single nucleotide variant Perlman syndrome [RCV003085122] Chr2:232163547 [GRCh38]
Chr2:233028257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.809C>T (p.Pro270Leu) single nucleotide variant Perlman syndrome [RCV003056407] Chr2:232136578 [GRCh38]
Chr2:233001288 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.792A>G (p.Lys264=) single nucleotide variant Perlman syndrome [RCV003084206] Chr2:232136561 [GRCh38]
Chr2:233001271 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1975G>C (p.Glu659Gln) single nucleotide variant Perlman syndrome [RCV003040058] Chr2:232330741 [GRCh38]
Chr2:233195451 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.703-20T>G single nucleotide variant Perlman syndrome [RCV003024048] Chr2:232136452 [GRCh38]
Chr2:233001162 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+11G>A single nucleotide variant Perlman syndrome [RCV003023603] Chr2:232330007 [GRCh38]
Chr2:233194717 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1486C>T (p.His496Tyr) single nucleotide variant Perlman syndrome [RCV002643808] Chr2:232263267 [GRCh38]
Chr2:233127977 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.9T>C (p.His3=) single nucleotide variant Perlman syndrome [RCV002872070] Chr2:232014936 [GRCh38]
Chr2:232879646 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2526G>C (p.Val842=) single nucleotide variant Perlman syndrome [RCV003040367] Chr2:232336498 [GRCh38]
Chr2:233201208 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-16C>G single nucleotide variant Perlman syndrome [RCV002931937] Chr2:232210310 [GRCh38]
Chr2:233075020 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2588_2596del (p.Gln863_His865del) deletion Perlman syndrome [RCV002918060] Chr2:232336558..232336566 [GRCh38]
Chr2:233201268..233201276 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.366G>A (p.Lys122=) single nucleotide variant Perlman syndrome [RCV003022902] Chr2:232030080 [GRCh38]
Chr2:232894790 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2243G>C (p.Arg748Pro) single nucleotide variant Perlman syndrome [RCV002741511] Chr2:232334453 [GRCh38]
Chr2:233199163 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.231A>G (p.Pro77=) single nucleotide variant Perlman syndrome [RCV002954130] Chr2:232024297 [GRCh38]
Chr2:232889007 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1452C>T (p.Thr484=) single nucleotide variant Perlman syndrome [RCV002624696] Chr2:232263233 [GRCh38]
Chr2:233127943 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2050G>A (p.Ala684Thr) single nucleotide variant Perlman syndrome [RCV002802231] Chr2:232333879 [GRCh38]
Chr2:233198589 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2553C>G (p.Leu851=) single nucleotide variant Perlman syndrome [RCV002928469] Chr2:232336525 [GRCh38]
Chr2:233201235 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1062T>C (p.Cys354=) single nucleotide variant Perlman syndrome [RCV002624077] Chr2:232163570 [GRCh38]
Chr2:233028280 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2290-20C>T single nucleotide variant Perlman syndrome [RCV002642577] Chr2:232334611 [GRCh38]
Chr2:233199321 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2084T>C (p.Leu695Pro) single nucleotide variant Perlman syndrome [RCV002664048] Chr2:232333913 [GRCh38]
Chr2:233198623 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1845A>G (p.Thr615=) single nucleotide variant Perlman syndrome [RCV002954243] Chr2:232329918 [GRCh38]
Chr2:233194628 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1890G>C (p.Leu630=) single nucleotide variant Perlman syndrome [RCV002596599] Chr2:232329963 [GRCh38]
Chr2:233194673 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-14C>A single nucleotide variant Perlman syndrome [RCV002914966] Chr2:232300026 [GRCh38]
Chr2:233164736 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2497-17_2497-8del deletion Perlman syndrome [RCV002644269] Chr2:232336451..232336460 [GRCh38]
Chr2:233201161..233201170 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_152383.5(DIS3L2):c.2496+11del deletion Perlman syndrome [RCV002852291] Chr2:232335882 [GRCh38]
Chr2:233200592 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1739A>G (p.Lys580Arg) single nucleotide variant Perlman syndrome [RCV003043339] Chr2:232300119 [GRCh38]
Chr2:233164829 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.703-19A>C single nucleotide variant Perlman syndrome [RCV002982926] Chr2:232136453 [GRCh38]
Chr2:233001163 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.634G>A (p.Asp212Asn) single nucleotide variant Perlman syndrome [RCV003041819] Chr2:232130651 [GRCh38]
Chr2:232995361 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1835dup (p.Pro613fs) duplication Perlman syndrome [RCV003007594] Chr2:232329902..232329903 [GRCh38]
Chr2:233194612..233194613 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2095T>G (p.Phe699Val) single nucleotide variant Perlman syndrome [RCV003057550] Chr2:232333924 [GRCh38]
Chr2:233198634 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-4C>T single nucleotide variant Perlman syndrome [RCV002894694] Chr2:232029975 [GRCh38]
Chr2:232894685 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1204+16C>T single nucleotide variant Perlman syndrome [RCV002932991] Chr2:232210421 [GRCh38]
Chr2:233075131 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+5C>G single nucleotide variant Perlman syndrome [RCV002982202] Chr2:232249351 [GRCh38]
Chr2:233114061 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.934T>A (p.Cys312Ser) single nucleotide variant Perlman syndrome [RCV002595108] Chr2:232136703 [GRCh38]
Chr2:233001413 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2394+6T>C single nucleotide variant Perlman syndrome [RCV003082892] Chr2:232334741 [GRCh38]
Chr2:233199451 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1923+7G>A single nucleotide variant Perlman syndrome [RCV003008030] Chr2:232330003 [GRCh38]
Chr2:233194713 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2027G>T (p.Cys676Phe) single nucleotide variant Perlman syndrome [RCV002644440] Chr2:232333856 [GRCh38]
Chr2:233198566 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.115A>C (p.Asn39His) single nucleotide variant Perlman syndrome [RCV002666644] Chr2:232015576 [GRCh38]
Chr2:232880286 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1805_1806delinsAG (p.Pro602Gln) indel Perlman syndrome [RCV002985406] Chr2:232329878..232329879 [GRCh38]
Chr2:233194588..233194589 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1124+6C>T single nucleotide variant Perlman syndrome [RCV002596311] Chr2:232163638 [GRCh38]
Chr2:233028348 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.778_797del (p.Glu260fs) deletion Perlman syndrome [RCV002893837] Chr2:232136545..232136564 [GRCh38]
Chr2:233001255..233001274 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.93G>T (p.Ser31=) single nucleotide variant Perlman syndrome [RCV002593767] Chr2:232015554 [GRCh38]
Chr2:232880264 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.489T>C (p.Asp163=) single nucleotide variant Perlman syndrome [RCV003006190] Chr2:232087609 [GRCh38]
Chr2:232952319 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2600_2601insAAGGAGGAGGG (p.Pro868fs) insertion Perlman syndrome [RCV003040537] Chr2:232336569..232336570 [GRCh38]
Chr2:233201279..233201280 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2496+8C>T single nucleotide variant Perlman syndrome [RCV003058646] Chr2:232335882 [GRCh38]
Chr2:233200592 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1344G>A (p.Leu448=) single nucleotide variant Perlman syndrome [RCV002644025] Chr2:232249265 [GRCh38]
Chr2:233113975 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1343T>G (p.Leu448Arg) single nucleotide variant Perlman syndrome [RCV002828134] Chr2:232249264 [GRCh38]
Chr2:233113974 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1306T>G (p.Leu436Val) single nucleotide variant Perlman syndrome [RCV002932893] Chr2:232238634 [GRCh38]
Chr2:233103344 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2289+20G>A single nucleotide variant Perlman syndrome [RCV002893982] Chr2:232334519 [GRCh38]
Chr2:233199229 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.455A>G (p.Gln152Arg) single nucleotide variant Perlman syndrome [RCV002918031] Chr2:232087575 [GRCh38]
Chr2:232952285 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2039T>C (p.Leu680Pro) single nucleotide variant Perlman syndrome [RCV002600714] Chr2:232333868 [GRCh38]
Chr2:233198578 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2010+6G>A single nucleotide variant Perlman syndrome [RCV002856528] Chr2:232330782 [GRCh38]
Chr2:233195492 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.107A>T (p.Lys36Met) single nucleotide variant Perlman syndrome [RCV003090606] Chr2:232015568 [GRCh38]
Chr2:232880278 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1682A>G (p.Asp561Gly) single nucleotide variant Perlman syndrome [RCV003092148] Chr2:232300062 [GRCh38]
Chr2:233164772 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1066C>T (p.Pro356Ser) single nucleotide variant Perlman syndrome [RCV002649920] Chr2:232163574 [GRCh38]
Chr2:233028284 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-12G>T single nucleotide variant Perlman syndrome [RCV002900200] Chr2:232336457 [GRCh38]
Chr2:233201167 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.579C>A (p.Leu193=) single nucleotide variant Perlman syndrome [RCV003049316] Chr2:232087699 [GRCh38]
Chr2:232952409 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1884G>A (p.Met628Ile) single nucleotide variant Perlman syndrome [RCV002670743] Chr2:232329957 [GRCh38]
Chr2:233194667 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2098A>G (p.Thr700Ala) single nucleotide variant Perlman syndrome [RCV002900442] Chr2:232333927 [GRCh38]
Chr2:233198637 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1924-18T>C single nucleotide variant Perlman syndrome [RCV002942002] Chr2:232330672 [GRCh38]
Chr2:233195382 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2203C>G (p.Gln735Glu) single nucleotide variant Perlman syndrome [RCV002676612] Chr2:232334413 [GRCh38]
Chr2:233199123 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1011A>C (p.Leu337=) single nucleotide variant Perlman syndrome [RCV002651172] Chr2:232163519 [GRCh38]
Chr2:233028229 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.582A>T (p.Ser194=) single nucleotide variant Perlman syndrome [RCV003008989] Chr2:232087702 [GRCh38]
Chr2:232952412 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.645C>T (p.Thr215=) single nucleotide variant Perlman syndrome [RCV002651108] Chr2:232130662 [GRCh38]
Chr2:232995372 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2557T>C (p.Tyr853His) single nucleotide variant Perlman syndrome [RCV003030398] Chr2:232336529 [GRCh38]
Chr2:233201239 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2151C>A (p.Ala717=) single nucleotide variant Perlman syndrome [RCV003091529] Chr2:232333980 [GRCh38]
Chr2:233198690 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.33G>A (p.Arg11=) single nucleotide variant Perlman syndrome [RCV002629829] Chr2:232014960 [GRCh38]
Chr2:232879670 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2104C>T (p.Pro702Ser) single nucleotide variant Perlman syndrome [RCV003065188] Chr2:232333933 [GRCh38]
Chr2:233198643 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2617G>A (p.Glu873Lys) single nucleotide variant Perlman syndrome [RCV002627931] Chr2:232336589 [GRCh38]
Chr2:233201299 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.769A>G (p.Lys257Glu) single nucleotide variant Perlman syndrome [RCV002746721]|not provided [RCV004763455] Chr2:232136538 [GRCh38]
Chr2:233001248 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2289+8C>T single nucleotide variant Perlman syndrome [RCV003086361] Chr2:232334507 [GRCh38]
Chr2:233199217 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.729T>A (p.His243Gln) single nucleotide variant Perlman syndrome [RCV003043977] Chr2:232136498 [GRCh38]
Chr2:233001208 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.842C>T (p.Pro281Leu) single nucleotide variant Perlman syndrome [RCV002717121] Chr2:232136611 [GRCh38]
Chr2:233001321 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.823G>C (p.Val275Leu) single nucleotide variant Inborn genetic diseases [RCV002897898] Chr2:232136592 [GRCh38]
Chr2:233001302 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2492A>G (p.Gln831Arg) single nucleotide variant Perlman syndrome [RCV003044107] Chr2:232335870 [GRCh38]
Chr2:233200580 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.36C>T (p.Pro12=) single nucleotide variant Perlman syndrome [RCV002791854] Chr2:232014963 [GRCh38]
Chr2:232879673 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1189A>C (p.Lys397Gln) single nucleotide variant Perlman syndrome [RCV002832773] Chr2:232210390 [GRCh38]
Chr2:233075100 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.97G>A (p.Gly33Ser) single nucleotide variant Perlman syndrome [RCV003086828] Chr2:232015558 [GRCh38]
Chr2:232880268 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1461C>T (p.Arg487=) single nucleotide variant Perlman syndrome [RCV002938120] Chr2:232263242 [GRCh38]
Chr2:233127952 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1170del (p.Asp391fs) deletion Perlman syndrome [RCV002835065] Chr2:232210371 [GRCh38]
Chr2:233075081 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1047A>G (p.Ser349=) single nucleotide variant Perlman syndrome [RCV003029679] Chr2:232163555 [GRCh38]
Chr2:233028265 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2307G>C (p.Glu769Asp) single nucleotide variant Perlman syndrome [RCV003029289] Chr2:232334648 [GRCh38]
Chr2:233199358 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.558G>A (p.Leu186=) single nucleotide variant Perlman syndrome [RCV002631348] Chr2:232087678 [GRCh38]
Chr2:232952388 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2605G>T (p.Glu869Ter) single nucleotide variant Perlman syndrome [RCV003064741] Chr2:232336577 [GRCh38]
Chr2:233201287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1205-4A>G single nucleotide variant Perlman syndrome [RCV002671144] Chr2:232238529 [GRCh38]
Chr2:233103239 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1296A>G (p.Thr432=) single nucleotide variant Perlman syndrome [RCV002988605] Chr2:232238624 [GRCh38]
Chr2:233103334 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2158+13G>C single nucleotide variant Perlman syndrome [RCV002629293] Chr2:232334000 [GRCh38]
Chr2:233198710 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.367-3T>C single nucleotide variant Perlman syndrome [RCV002632633] Chr2:232087484 [GRCh38]
Chr2:232952194 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1887G>A (p.Gly629=) single nucleotide variant Perlman syndrome [RCV003009565] Chr2:232329960 [GRCh38]
Chr2:233194670 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-12C>G single nucleotide variant Perlman syndrome [RCV003010452] Chr2:232300028 [GRCh38]
Chr2:233164738 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-13T>G single nucleotide variant Perlman syndrome [RCV003011133] Chr2:232136459 [GRCh38]
Chr2:233001169 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1813G>T (p.Ala605Ser) single nucleotide variant Perlman syndrome [RCV002988846] Chr2:232329886 [GRCh38]
Chr2:233194596 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1708T>C (p.Cys570Arg) single nucleotide variant Perlman syndrome [RCV002856417] Chr2:232300088 [GRCh38]
Chr2:233164798 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.913A>G (p.Ile305Val) single nucleotide variant Perlman syndrome [RCV002602471] Chr2:232136682 [GRCh38]
Chr2:233001392 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1938A>C (p.Gln646His) single nucleotide variant Perlman syndrome [RCV003045162] Chr2:232330704 [GRCh38]
Chr2:233195414 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2598G>A (p.Leu866=) single nucleotide variant Perlman syndrome [RCV003087506] Chr2:232336570 [GRCh38]
Chr2:233201280 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.23T>G (p.Met8Arg) single nucleotide variant Perlman syndrome [RCV003087507] Chr2:232014950 [GRCh38]
Chr2:232879660 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1674C>T (p.Phe558=) single nucleotide variant Perlman syndrome [RCV002601095] Chr2:232300054 [GRCh38]
Chr2:233164764 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.132G>T (p.Gly44=) single nucleotide variant Perlman syndrome [RCV003047989] Chr2:232015593 [GRCh38]
Chr2:232880303 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-10C>G single nucleotide variant Perlman syndrome [RCV003048938] Chr2:232329803 [GRCh38]
Chr2:233194513 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2010+19del deletion Perlman syndrome [RCV002895238] Chr2:232330792 [GRCh38]
Chr2:233195502 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1222G>C (p.Val408Leu) single nucleotide variant Perlman syndrome [RCV003044256] Chr2:232238550 [GRCh38]
Chr2:233103260 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1074C>T (p.Gly358=) single nucleotide variant Perlman syndrome [RCV003062813] Chr2:232163582 [GRCh38]
Chr2:233028292 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1882A>G (p.Met628Val) single nucleotide variant Perlman syndrome [RCV002651199] Chr2:232329955 [GRCh38]
Chr2:233194665 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1929C>G (p.Ser643Arg) single nucleotide variant Perlman syndrome [RCV002812073] Chr2:232330695 [GRCh38]
Chr2:233195405 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1161C>T (p.Ala387=) single nucleotide variant Perlman syndrome [RCV002633528] Chr2:232210362 [GRCh38]
Chr2:233075072 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.662C>T (p.Thr221Ile) single nucleotide variant Perlman syndrome [RCV003067804] Chr2:232130679 [GRCh38]
Chr2:232995389 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1352A>C (p.Glu451Ala) single nucleotide variant Perlman syndrome [RCV003068087] Chr2:232249273 [GRCh38]
Chr2:233113983 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-122C>T single nucleotide variant Perlman syndrome [RCV002654778] Chr2:232336347 [GRCh38]
Chr2:233201057 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2072T>C (p.Leu691Pro) single nucleotide variant Perlman syndrome [RCV003049765] Chr2:232333901 [GRCh38]
Chr2:233198611 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.935G>C (p.Cys312Ser) single nucleotide variant Perlman syndrome [RCV002653339] Chr2:232136704 [GRCh38]
Chr2:233001414 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.316T>G (p.Leu106Val) single nucleotide variant Perlman syndrome [RCV003093218] Chr2:232030030 [GRCh38]
Chr2:232894740 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2011-10C>T single nucleotide variant Perlman syndrome [RCV002943668]|not provided [RCV004711928] Chr2:232333830 [GRCh38]
Chr2:233198540 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1144A>G (p.Ile382Val) single nucleotide variant Perlman syndrome [RCV002584662] Chr2:232210345 [GRCh38]
Chr2:233075055 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1536G>A (p.Glu512=) single nucleotide variant Perlman syndrome [RCV002654963] Chr2:232263317 [GRCh38]
Chr2:233128027 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1924-13G>A single nucleotide variant Perlman syndrome [RCV003071314] Chr2:232330677 [GRCh38]
Chr2:233195387 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1080A>G (p.Pro360=) single nucleotide variant Perlman syndrome [RCV003050580] Chr2:232163588 [GRCh38]
Chr2:233028298 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+18_1425+19del deletion Perlman syndrome [RCV002943365] Chr2:232249362..232249363 [GRCh38]
Chr2:233114072..233114073 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.962A>G (p.Lys321Arg) single nucleotide variant Perlman syndrome [RCV003071226] Chr2:232163470 [GRCh38]
Chr2:233028180 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1739+14T>A single nucleotide variant Perlman syndrome [RCV003072312] Chr2:232300133 [GRCh38]
Chr2:233164843 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.20G>C (p.Arg7Thr) single nucleotide variant Perlman syndrome [RCV003069597] Chr2:232014947 [GRCh38]
Chr2:232879657 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2346C>G (p.Phe782Leu) single nucleotide variant Perlman syndrome [RCV002942942] Chr2:232334687 [GRCh38]
Chr2:233199397 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.951-19G>A single nucleotide variant Perlman syndrome [RCV002606375] Chr2:232163440 [GRCh38]
Chr2:233028150 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1120T>G (p.Leu374Val) single nucleotide variant Perlman syndrome [RCV003072604] Chr2:232163628 [GRCh38]
Chr2:233028338 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2083C>T (p.Leu695=) single nucleotide variant Perlman syndrome [RCV003093358] Chr2:232333912 [GRCh38]
Chr2:233198622 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1999C>T (p.Arg667Trp) single nucleotide variant Perlman syndrome [RCV002612413] Chr2:232330765 [GRCh38]
Chr2:233195475 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.557T>C (p.Leu186Pro) single nucleotide variant Perlman syndrome [RCV003093572] Chr2:232087677 [GRCh38]
Chr2:232952387 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-9C>T single nucleotide variant Perlman syndrome [RCV003071049] Chr2:232029970 [GRCh38]
Chr2:232894680 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.458A>T (p.Gln153Leu) single nucleotide variant Perlman syndrome [RCV003073428] Chr2:232087578 [GRCh38]
Chr2:232952288 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1720G>A (p.Glu574Lys) single nucleotide variant Inborn genetic diseases [RCV003201456] Chr2:232300100 [GRCh38]
Chr2:233164810 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1328T>C (p.Met443Thr) single nucleotide variant Inborn genetic diseases [RCV003210701] Chr2:232249249 [GRCh38]
Chr2:233113959 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3 copy number gain See cases [RCV003320003] Chr2:232563726..234136887 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs) deletion Perlman syndrome [RCV003459970] Chr2:232334639 [GRCh38]
Chr2:233199349 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_152383.5(DIS3L2):c.1117del (p.Asp373fs) deletion Perlman syndrome [RCV003330269] Chr2:232163623 [GRCh38]
Chr2:233028333 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_001257281.2(DIS3L2):c.1780G>A (p.Val594Ile) single nucleotide variant Perlman syndrome [RCV003338027] Chr2:232343543 [GRCh38]
Chr2:233208253 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.530A>G (p.Asp177Gly) single nucleotide variant Inborn genetic diseases [RCV003378492] Chr2:232087650 [GRCh38]
Chr2:232952360 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001257281.2(DIS3L2):c.1691G>T (p.Gly564Val) single nucleotide variant DIS3L2-related disorder [RCV003414143] Chr2:232343454 [GRCh38]
Chr2:233208164 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1180C>T (p.Leu394Phe) single nucleotide variant Perlman syndrome [RCV003642496] Chr2:232210381 [GRCh38]
Chr2:233075091 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1718A>T (p.Tyr573Phe) single nucleotide variant Perlman syndrome [RCV003642374] Chr2:232300098 [GRCh38]
Chr2:233164808 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1285G>C (p.Glu429Gln) single nucleotide variant Perlman syndrome [RCV003642431] Chr2:232238613 [GRCh38]
Chr2:233103323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.88G>A (p.Ala30Thr) single nucleotide variant Perlman syndrome [RCV003642458] Chr2:232015549 [GRCh38]
Chr2:232880259 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.438T>G (p.Cys146Trp) single nucleotide variant Perlman syndrome [RCV003875366] Chr2:232087558 [GRCh38]
Chr2:232952268 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.295G>A (p.Val99Ile) single nucleotide variant Perlman syndrome [RCV003642421] Chr2:232030009 [GRCh38]
Chr2:232894719 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2158+8del deletion Perlman syndrome [RCV003642433] Chr2:232333992 [GRCh38]
Chr2:233198702 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1124+16C>G single nucleotide variant Perlman syndrome [RCV003642372] Chr2:232163648 [GRCh38]
Chr2:233028358 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.367-13C>T single nucleotide variant Perlman syndrome [RCV003872897] Chr2:232087474 [GRCh38]
Chr2:232952184 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.197G>A (p.Gly66Glu) single nucleotide variant Perlman syndrome [RCV003642518] Chr2:232015658 [GRCh38]
Chr2:232880368 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.994G>T (p.Glu332Ter) single nucleotide variant Perlman syndrome [RCV003466187] Chr2:232163502 [GRCh38]
Chr2:233028212 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1152A>G (p.Pro384=) single nucleotide variant Perlman syndrome [RCV003642525] Chr2:232210353 [GRCh38]
Chr2:233075063 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1511C>T (p.Pro504Leu) single nucleotide variant Perlman syndrome [RCV003642543] Chr2:232263292 [GRCh38]
Chr2:233128002 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-10C>T single nucleotide variant Perlman syndrome [RCV003642545] Chr2:232329803 [GRCh38]
Chr2:233194513 [GRCh37]
Chr2:2q37.1		 likely benign
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_152383.5(DIS3L2):c.2248C>T (p.Gln750Ter) single nucleotide variant DIS3L2-related disorder [RCV003391455] Chr2:232334458 [GRCh38]
Chr2:233199168 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.457C>T (p.Gln153Ter) single nucleotide variant Perlman syndrome [RCV003475584] Chr2:232087577 [GRCh38]
Chr2:232952287 [GRCh37]
Chr2:2q37.1		 likely pathogenic
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 copy number gain not provided [RCV003484091] Chr2:225995545..237594511 [GRCh37]
Chr2:2q36.2-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_152383.5(DIS3L2):c.1178_1179insAAGCCACT (p.Leu394fs) insertion Perlman syndrome [RCV003466191] Chr2:232210379..232210380 [GRCh38]
Chr2:233075089..233075090 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.426del (p.Glu143fs) deletion Perlman syndrome [RCV003466190] Chr2:232087543 [GRCh38]
Chr2:232952253 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.943del (p.Ala315fs) deletion Perlman syndrome [RCV003466188] Chr2:232136712 [GRCh38]
Chr2:233001422 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_001257281.2(DIS3L2):c.1632C>G (p.Pro544=) single nucleotide variant not provided [RCV003431172] Chr2:232343395 [GRCh38]
Chr2:233208105 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.502del (p.Ala168fs) deletion Perlman syndrome [RCV003466189] Chr2:232087621 [GRCh38]
Chr2:232952331 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1218G>A (p.Val406=) single nucleotide variant Perlman syndrome [RCV003528993] Chr2:232238546 [GRCh38]
Chr2:233103256 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.867T>C (p.Phe289=) single nucleotide variant Perlman syndrome [RCV003529013] Chr2:232136636 [GRCh38]
Chr2:233001346 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1318-1G>A single nucleotide variant Perlman syndrome [RCV003529254] Chr2:232249238 [GRCh38]
Chr2:233113948 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.53-17C>T single nucleotide variant Perlman syndrome [RCV003529318] Chr2:232015497 [GRCh38]
Chr2:232880207 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1108A>G (p.Lys370Glu) single nucleotide variant Perlman syndrome [RCV003529506] Chr2:232163616 [GRCh38]
Chr2:233028326 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1484A>T (p.Glu495Val) single nucleotide variant Perlman syndrome [RCV003527749] Chr2:232263265 [GRCh38]
Chr2:233127975 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1425+9T>G single nucleotide variant Perlman syndrome [RCV003527758] Chr2:232249355 [GRCh38]
Chr2:233114065 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1124+14A>G single nucleotide variant Perlman syndrome [RCV003527770] Chr2:232163646 [GRCh38]
Chr2:233028356 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.146_154dup (p.Glu51_Thr52insIlePheGlu) duplication Perlman syndrome [RCV003527982] Chr2:232015605..232015606 [GRCh38]
Chr2:232880315..232880316 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1718A>G (p.Tyr573Cys) single nucleotide variant Perlman syndrome [RCV003529415] Chr2:232300098 [GRCh38]
Chr2:233164808 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2473A>G (p.Met825Val) single nucleotide variant Perlman syndrome [RCV003529571] Chr2:232335851 [GRCh38]
Chr2:233200561 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1205-7T>C single nucleotide variant Perlman syndrome [RCV003529583] Chr2:232238526 [GRCh38]
Chr2:233103236 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1868A>G (p.Glu623Gly) single nucleotide variant Perlman syndrome [RCV003643553] Chr2:232329941 [GRCh38]
Chr2:233194651 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395-6C>A single nucleotide variant Perlman syndrome [RCV003527671] Chr2:232335767 [GRCh38]
Chr2:233200477 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1426-5T>C single nucleotide variant Perlman syndrome [RCV003527829] Chr2:232263202 [GRCh38]
Chr2:233127912 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.53G>A (p.Gly18Asp) single nucleotide variant Perlman syndrome [RCV003529372] Chr2:232015514 [GRCh38]
Chr2:232880224 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2289+11C>T single nucleotide variant Perlman syndrome [RCV003529398] Chr2:232334510 [GRCh38]
Chr2:233199220 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1521A>T (p.Lys507Asn) single nucleotide variant Perlman syndrome [RCV003643585] Chr2:232263302 [GRCh38]
Chr2:233128012 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2170C>G (p.Arg724Gly) single nucleotide variant Perlman syndrome [RCV003643607] Chr2:232334380 [GRCh38]
Chr2:233199090 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1577A>T (p.His526Leu) single nucleotide variant Perlman syndrome [RCV003643627] Chr2:232263358 [GRCh38]
Chr2:233128068 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.53-5T>G single nucleotide variant Perlman syndrome [RCV003527922] Chr2:232015509 [GRCh38]
Chr2:232880219 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1591A>G (p.Asn531Asp) single nucleotide variant Perlman syndrome [RCV003643704] Chr2:232263372 [GRCh38]
Chr2:233128082 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1498A>G (p.Met500Val) single nucleotide variant Perlman syndrome [RCV003529353] Chr2:232263279 [GRCh38]
Chr2:233127989 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1659+19A>C single nucleotide variant Perlman syndrome [RCV003528564] Chr2:232263459 [GRCh38]
Chr2:233128169 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1037A>T (p.Asp346Val) single nucleotide variant Perlman syndrome [RCV003643804] Chr2:232163545 [GRCh38]
Chr2:233028255 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.990G>T (p.Glu330Asp) single nucleotide variant Perlman syndrome [RCV003643817] Chr2:232163498 [GRCh38]
Chr2:233028208 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-17C>T single nucleotide variant Perlman syndrome [RCV003529515] Chr2:232329796 [GRCh38]
Chr2:233194506 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.787del (p.Arg263fs) deletion Perlman syndrome [RCV003528596] Chr2:232136556 [GRCh38]
Chr2:233001266 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2331C>G (p.Ile777Met) single nucleotide variant Perlman syndrome [RCV003529783] Chr2:232334672 [GRCh38]
Chr2:233199382 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.781_789dup (p.Arg263_Lys264insLeuPheArg) duplication Perlman syndrome [RCV003529654] Chr2:232136549..232136550 [GRCh38]
Chr2:233001259..233001260 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1913G>C (p.Gly638Ala) single nucleotide variant Perlman syndrome [RCV003643958] Chr2:232329986 [GRCh38]
Chr2:233194696 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.357G>A (p.Glu119=) single nucleotide variant Perlman syndrome [RCV003879785] Chr2:232030071 [GRCh38]
Chr2:232894781 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.210+3G>C single nucleotide variant Perlman syndrome [RCV003528508] Chr2:232015674 [GRCh38]
Chr2:232880384 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395-15G>A single nucleotide variant Perlman syndrome [RCV003528530] Chr2:232335758 [GRCh38]
Chr2:233200468 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2451G>T (p.Thr817=) single nucleotide variant Perlman syndrome [RCV003529729] Chr2:232335829 [GRCh38]
Chr2:233200539 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.259del (p.Ser87fs) deletion Perlman syndrome [RCV003644087] Chr2:232024324 [GRCh38]
Chr2:232889034 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.403G>T (p.Ala135Ser) single nucleotide variant Perlman syndrome [RCV003528589] Chr2:232087523 [GRCh38]
Chr2:232952233 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.211-3A>G single nucleotide variant Perlman syndrome [RCV003529793] Chr2:232024274 [GRCh38]
Chr2:232888984 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1496G>A (p.Ser499Asn) single nucleotide variant Perlman syndrome [RCV003642615] Chr2:232263277 [GRCh38]
Chr2:233127987 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.31C>A (p.Arg11=) single nucleotide variant Perlman syndrome [RCV003642628] Chr2:232014958 [GRCh38]
Chr2:232879668 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2432G>A (p.Gly811Asp) single nucleotide variant Perlman syndrome [RCV003644207] Chr2:232335810 [GRCh38]
Chr2:233200520 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-5C>A single nucleotide variant Perlman syndrome [RCV003882270] Chr2:232336464 [GRCh38]
Chr2:233201174 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1861C>G (p.Leu621Val) single nucleotide variant Perlman syndrome [RCV003642706] Chr2:232329934 [GRCh38]
Chr2:233194644 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.796_799dup (p.Leu267fs) duplication Perlman syndrome [RCV003644323] Chr2:232136563..232136564 [GRCh38]
Chr2:233001273..233001274 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1924-5T>C single nucleotide variant Perlman syndrome [RCV003529041] Chr2:232330685 [GRCh38]
Chr2:233195395 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1883T>C (p.Met628Thr) single nucleotide variant Perlman syndrome [RCV003529046] Chr2:232329956 [GRCh38]
Chr2:233194666 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-34_1740-12del deletion Perlman syndrome [RCV003529134] Chr2:232329775..232329797 [GRCh38]
Chr2:233194485..233194507 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1659+11_1659+12insC insertion Perlman syndrome [RCV003528979] Chr2:232263451..232263452 [GRCh38]
Chr2:233128161..233128162 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-4G>A single nucleotide variant Perlman syndrome [RCV003528983] Chr2:232329809 [GRCh38]
Chr2:233194519 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.265-10del deletion Perlman syndrome [RCV003528998] Chr2:232029965 [GRCh38]
Chr2:232894675 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2136C>G (p.His712Gln) single nucleotide variant Perlman syndrome [RCV003529660] Chr2:232333965 [GRCh38]
Chr2:233198675 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1617A>G (p.Leu539=) single nucleotide variant Perlman syndrome [RCV003642854] Chr2:232263398 [GRCh38]
Chr2:233128108 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2005A>C (p.Met669Leu) single nucleotide variant Perlman syndrome [RCV003643649] Chr2:232330771 [GRCh38]
Chr2:233195481 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1146T>A (p.Ile382=) single nucleotide variant Perlman syndrome [RCV003644433] Chr2:232210347 [GRCh38]
Chr2:233075057 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2172A>T (p.Arg724=) single nucleotide variant Perlman syndrome [RCV003830810] Chr2:232334382 [GRCh38]
Chr2:233199092 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2575C>G (p.Arg859Gly) single nucleotide variant Perlman syndrome [RCV003643695] Chr2:232336547 [GRCh38]
Chr2:233201257 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2094C>A (p.His698Gln) single nucleotide variant Perlman syndrome [RCV003643732] Chr2:232333923 [GRCh38]
Chr2:233198633 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1408C>T (p.Leu470=) single nucleotide variant Perlman syndrome [RCV003644480] Chr2:232249329 [GRCh38]
Chr2:233114039 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.586T>G (p.Cys196Gly) single nucleotide variant Perlman syndrome [RCV003528525] Chr2:232087706 [GRCh38]
Chr2:232952416 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1565G>T (p.Ser522Ile) single nucleotide variant Perlman syndrome [RCV003528532] Chr2:232263346 [GRCh38]
Chr2:233128056 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1227C>T (p.His409=) single nucleotide variant Perlman syndrome [RCV003643743] Chr2:232238555 [GRCh38]
Chr2:233103265 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.525A>C (p.Ser175=) single nucleotide variant Perlman syndrome [RCV003643761] Chr2:232087645 [GRCh38]
Chr2:232952355 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.602-4G>A single nucleotide variant Perlman syndrome [RCV003529310] Chr2:232130615 [GRCh38]
Chr2:232995325 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1426-15T>G single nucleotide variant Perlman syndrome [RCV003527668] Chr2:232263192 [GRCh38]
Chr2:233127902 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1059A>G (p.Glu353=) single nucleotide variant Perlman syndrome [RCV003527690] Chr2:232163567 [GRCh38]
Chr2:233028277 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.256C>A (p.Pro86Thr) single nucleotide variant Perlman syndrome [RCV003527687] Chr2:232024322 [GRCh38]
Chr2:232889032 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.66G>A (p.Val22=) single nucleotide variant Perlman syndrome [RCV003529317] Chr2:232015527 [GRCh38]
Chr2:232880237 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1326dup (p.Met443fs) duplication Perlman syndrome [RCV003527714] Chr2:232249243..232249244 [GRCh38]
Chr2:233113953..233113954 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1332T>G (p.Leu444=) single nucleotide variant Perlman syndrome [RCV003527723] Chr2:232249253 [GRCh38]
Chr2:233113963 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1732A>C (p.Ser578Arg) single nucleotide variant Perlman syndrome [RCV003529370] Chr2:232300112 [GRCh38]
Chr2:233164822 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1425+12C>T single nucleotide variant Perlman syndrome [RCV003529376] Chr2:232249358 [GRCh38]
Chr2:233114068 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2395-3C>T single nucleotide variant Perlman syndrome [RCV003643897] Chr2:232335770 [GRCh38]
Chr2:233200480 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1924-7C>G single nucleotide variant Perlman syndrome [RCV003643908] Chr2:232330683 [GRCh38]
Chr2:233195393 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.889G>A (p.Ala297Thr) single nucleotide variant Perlman syndrome [RCV003528495] Chr2:232136658 [GRCh38]
Chr2:233001368 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1660-12C>T single nucleotide variant Perlman syndrome [RCV003529424] Chr2:232300028 [GRCh38]
Chr2:233164738 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2006T>C (p.Met669Thr) single nucleotide variant Perlman syndrome [RCV003643199] Chr2:232330772 [GRCh38]
Chr2:233195482 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.847A>G (p.Lys283Glu) single nucleotide variant Perlman syndrome [RCV003643218] Chr2:232136616 [GRCh38]
Chr2:233001326 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2385C>G (p.Ile795Met) single nucleotide variant Perlman syndrome [RCV003643982] Chr2:232334726 [GRCh38]
Chr2:233199436 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1353G>A (p.Glu451=) single nucleotide variant Perlman syndrome [RCV003643996] Chr2:232249274 [GRCh38]
Chr2:233113984 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1428C>A (p.Ile476=) single nucleotide variant Perlman syndrome [RCV003644066] Chr2:232263209 [GRCh38]
Chr2:233127919 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.848A>C (p.Lys283Thr) single nucleotide variant Perlman syndrome [RCV003527918] Chr2:232136617 [GRCh38]
Chr2:233001327 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1006A>G (p.Ile336Val) single nucleotide variant Perlman syndrome [RCV003529045] Chr2:232163514 [GRCh38]
Chr2:233028224 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.367-2A>G single nucleotide variant Perlman syndrome [RCV003529461] Chr2:232087485 [GRCh38]
Chr2:232952195 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2152G>T (p.Ala718Ser) single nucleotide variant Perlman syndrome [RCV003529476] Chr2:232333981 [GRCh38]
Chr2:233198691 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2108T>A (p.Ile703Asn) single nucleotide variant Perlman syndrome [RCV003529482] Chr2:232333937 [GRCh38]
Chr2:233198647 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.977C>T (p.Ala326Val) single nucleotide variant Perlman syndrome [RCV003643327] Chr2:232163485 [GRCh38]
Chr2:233028195 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2423A>G (p.Gln808Arg) single nucleotide variant Perlman syndrome [RCV003644097] Chr2:232335801 [GRCh38]
Chr2:233200511 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.347T>C (p.Leu116Pro) single nucleotide variant Perlman syndrome [RCV003644103] Chr2:232030061 [GRCh38]
Chr2:232894771 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2010_2010+1delinsAT indel Perlman syndrome [RCV003644118] Chr2:232330776..232330777 [GRCh38]
Chr2:233195486..233195487 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2010+19C>G single nucleotide variant Perlman syndrome [RCV003644125] Chr2:232330795 [GRCh38]
Chr2:233195505 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.256C>T (p.Pro86Ser) single nucleotide variant Perlman syndrome [RCV003644134] Chr2:232024322 [GRCh38]
Chr2:232889032 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1882A>T (p.Met628Leu) single nucleotide variant Perlman syndrome [RCV003644140] Chr2:232329955 [GRCh38]
Chr2:233194665 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-10dup duplication Perlman syndrome [RCV003644157] Chr2:232334354..232334355 [GRCh38]
Chr2:233199064..233199065 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.2019G>A (p.Leu673=) single nucleotide variant Perlman syndrome [RCV003529087] Chr2:232333848 [GRCh38]
Chr2:233198558 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-20C>A single nucleotide variant Perlman syndrome [RCV003642625] Chr2:232163439 [GRCh38]
Chr2:233028149 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395-20G>T single nucleotide variant Perlman syndrome [RCV003642672] Chr2:232335753 [GRCh38]
Chr2:233200463 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1714A>G (p.Ile572Val) single nucleotide variant Perlman syndrome [RCV003643447] Chr2:232300094 [GRCh38]
Chr2:233164804 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.243T>C (p.His81=) single nucleotide variant Perlman syndrome [RCV003644190] Chr2:232024309 [GRCh38]
Chr2:232889019 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1786A>G (p.Lys596Glu) single nucleotide variant Perlman syndrome [RCV003529118] Chr2:232329859 [GRCh38]
Chr2:233194569 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.14A>G (p.Asp5Gly) single nucleotide variant Perlman syndrome [RCV003644225] Chr2:232014941 [GRCh38]
Chr2:232879651 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1204+12A>T single nucleotide variant Perlman syndrome [RCV003644234] Chr2:232210417 [GRCh38]
Chr2:233075127 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.950+14G>C single nucleotide variant Perlman syndrome [RCV003644240] Chr2:232136733 [GRCh38]
Chr2:233001443 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.957_960del (p.Ala320fs) deletion Perlman syndrome [RCV003644257] Chr2:232163462..232163465 [GRCh38]
Chr2:233028172..233028175 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1969C>G (p.Arg657Gly) single nucleotide variant Perlman syndrome [RCV003643542] Chr2:232330735 [GRCh38]
Chr2:233195445 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1740-15A>T single nucleotide variant Perlman syndrome [RCV003644307] Chr2:232329798 [GRCh38]
Chr2:233194508 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2265T>C (p.Ser755=) single nucleotide variant Perlman syndrome [RCV003528930] Chr2:232334475 [GRCh38]
Chr2:233199185 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1910C>T (p.Ala637Val) single nucleotide variant Perlman syndrome [RCV003643564] Chr2:232329983 [GRCh38]
Chr2:233194693 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1078C>T (p.Pro360Ser) single nucleotide variant Perlman syndrome [RCV003643590] Chr2:232163586 [GRCh38]
Chr2:233028296 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-11G>T single nucleotide variant Perlman syndrome [RCV003529202] Chr2:232336458 [GRCh38]
Chr2:233201168 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1176T>C (p.Asp392=) single nucleotide variant Perlman syndrome [RCV003643608] Chr2:232210377 [GRCh38]
Chr2:233075087 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.666A>G (p.Arg222=) single nucleotide variant Perlman syndrome [RCV003644372] Chr2:232130683 [GRCh38]
Chr2:232995393 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1323C>T (p.Val441=) single nucleotide variant Perlman syndrome [RCV003644379] Chr2:232249244 [GRCh38]
Chr2:233113954 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.703-3del deletion Perlman syndrome [RCV003644396] Chr2:232136465 [GRCh38]
Chr2:233001175 [GRCh37]
Chr2:2q37.1		 benign
NM_152383.5(DIS3L2):c.1401C>A (p.Ile467=) single nucleotide variant Perlman syndrome [RCV003644026] Chr2:232249322 [GRCh38]
Chr2:233114032 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.743C>T (p.Thr248Ile) single nucleotide variant Perlman syndrome [RCV003528859] Chr2:232136512 [GRCh38]
Chr2:233001222 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1951G>A (p.Asp651Asn) single nucleotide variant Perlman syndrome [RCV003529301] Chr2:232330717 [GRCh38]
Chr2:233195427 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1460G>T (p.Arg487Leu) single nucleotide variant Perlman syndrome [RCV003529716] Chr2:232263241 [GRCh38]
Chr2:233127951 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1923+20C>A single nucleotide variant Perlman syndrome [RCV003529718] Chr2:232330016 [GRCh38]
Chr2:233194726 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1059A>C (p.Glu353Asp) single nucleotide variant Perlman syndrome [RCV003643114] Chr2:232163567 [GRCh38]
Chr2:233028277 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2011-13T>C single nucleotide variant Perlman syndrome [RCV003644100] Chr2:232333827 [GRCh38]
Chr2:233198537 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2045A>T (p.Asp682Val) single nucleotide variant Perlman syndrome [RCV003644108] Chr2:232333874 [GRCh38]
Chr2:233198584 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1125-17T>C single nucleotide variant Perlman syndrome [RCV003527674] Chr2:232210309 [GRCh38]
Chr2:233075019 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2237C>A (p.Ser746Tyr) single nucleotide variant Perlman syndrome [RCV003527675] Chr2:232334447 [GRCh38]
Chr2:233199157 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.845T>G (p.Leu282Arg) single nucleotide variant Perlman syndrome [RCV003527677] Chr2:232136614 [GRCh38]
Chr2:233001324 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1830C>A (p.His610Gln) single nucleotide variant Perlman syndrome [RCV003529222] Chr2:232329903 [GRCh38]
Chr2:233194613 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1924-8G>C single nucleotide variant Perlman syndrome [RCV003529316] Chr2:232330682 [GRCh38]
Chr2:233195392 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2191A>G (p.Thr731Ala) single nucleotide variant Perlman syndrome [RCV003529737] Chr2:232334401 [GRCh38]
Chr2:233199111 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1199C>T (p.Ala400Val) single nucleotide variant Perlman syndrome [RCV003643237] Chr2:232210400 [GRCh38]
Chr2:233075110 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1091C>T (p.Pro364Leu) single nucleotide variant Perlman syndrome [RCV003644158] Chr2:232163599 [GRCh38]
Chr2:233028309 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2480A>G (p.Gln827Arg) single nucleotide variant Perlman syndrome [RCV003643295] Chr2:232335858 [GRCh38]
Chr2:233200568 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2439G>A (p.Lys813=) single nucleotide variant Perlman syndrome [RCV003643340] Chr2:232335817 [GRCh38]
Chr2:233200527 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-12C>T single nucleotide variant Perlman syndrome [RCV003643360] Chr2:232329801 [GRCh38]
Chr2:233194511 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.687G>A (p.Leu229=) single nucleotide variant Perlman syndrome [RCV003643367] Chr2:232130704 [GRCh38]
Chr2:232995414 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+10C>G single nucleotide variant Perlman syndrome [RCV003643373] Chr2:232334745 [GRCh38]
Chr2:233199455 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1425+11dup duplication Perlman syndrome [RCV003644174] Chr2:232249356..232249357 [GRCh38]
Chr2:233114066..233114067 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2189A>T (p.Asp730Val) single nucleotide variant Perlman syndrome [RCV003644197] Chr2:232334399 [GRCh38]
Chr2:233199109 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1048G>A (p.Glu350Lys) single nucleotide variant Perlman syndrome [RCV003529379] Chr2:232163556 [GRCh38]
Chr2:233028266 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1851G>A (p.Met617Ile) single nucleotide variant Perlman syndrome [RCV003529767] Chr2:232329924 [GRCh38]
Chr2:233194634 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1791C>T (p.Ile597=) single nucleotide variant Perlman syndrome [RCV003642558] Chr2:232329864 [GRCh38]
Chr2:233194574 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.199A>G (p.Thr67Ala) single nucleotide variant Perlman syndrome [RCV003642731] Chr2:232015660 [GRCh38]
Chr2:232880370 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2289+2T>G single nucleotide variant Perlman syndrome [RCV003643460] Chr2:232334501 [GRCh38]
Chr2:233199211 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.660C>T (p.Asp220=) single nucleotide variant Perlman syndrome [RCV003643497] Chr2:232130677 [GRCh38]
Chr2:232995387 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2634G>A (p.Glu878=) single nucleotide variant Perlman syndrome [RCV003644255] Chr2:232336606 [GRCh38]
Chr2:233201316 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.951-16_951-9dup duplication Perlman syndrome [RCV003527767] Chr2:232163441..232163442 [GRCh38]
Chr2:233028151..233028152 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2237C>T (p.Ser746Phe) single nucleotide variant Perlman syndrome [RCV003528482] Chr2:232334447 [GRCh38]
Chr2:233199157 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.264+15T>C single nucleotide variant Perlman syndrome [RCV003528503] Chr2:232024345 [GRCh38]
Chr2:232889055 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.602-9T>C single nucleotide variant Perlman syndrome [RCV003528505] Chr2:232130610 [GRCh38]
Chr2:232995320 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1428C>T (p.Ile476=) single nucleotide variant Perlman syndrome [RCV003528981] Chr2:232263209 [GRCh38]
Chr2:233127919 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1967C>T (p.Ala656Val) single nucleotide variant Perlman syndrome [RCV003529402] Chr2:232330733 [GRCh38]
Chr2:233195443 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.71G>C (p.Gly24Ala) single nucleotide variant Perlman syndrome [RCV003642836] Chr2:232015532 [GRCh38]
Chr2:232880242 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.479A>G (p.Asp160Gly) single nucleotide variant Perlman syndrome [RCV003643316] Chr2:232087599 [GRCh38]
Chr2:232952309 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1660-19C>G single nucleotide variant Perlman syndrome [RCV003643528] Chr2:232300021 [GRCh38]
Chr2:233164731 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2583C>G (p.Gly861=) single nucleotide variant Perlman syndrome [RCV003527736] Chr2:232336555 [GRCh38]
Chr2:233201265 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.988G>C (p.Glu330Gln) single nucleotide variant Perlman syndrome [RCV003529020] Chr2:232163496 [GRCh38]
Chr2:233028206 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1159G>T (p.Ala387Ser) single nucleotide variant Perlman syndrome [RCV003644351] Chr2:232210360 [GRCh38]
Chr2:233075070 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2369G>A (p.Gly790Asp) single nucleotide variant Perlman syndrome [RCV003644375] Chr2:232334710 [GRCh38]
Chr2:233199420 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1984A>G (p.Thr662Ala) single nucleotide variant Perlman syndrome [RCV003527817] Chr2:232330750 [GRCh38]
Chr2:233195460 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1018T>C (p.Tyr340His) single nucleotide variant Perlman syndrome [RCV003527827] Chr2:232163526 [GRCh38]
Chr2:233028236 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2241G>T (p.Lys747Asn) single nucleotide variant Perlman syndrome [RCV003528563] Chr2:232334451 [GRCh38]
Chr2:233199161 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1054C>G (p.Leu352Val) single nucleotide variant Perlman syndrome [RCV003529452] Chr2:232163562 [GRCh38]
Chr2:233028272 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1321G>A (p.Val441Ile) single nucleotide variant Perlman syndrome [RCV003643594] Chr2:232249242 [GRCh38]
Chr2:233113952 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.602-14T>C single nucleotide variant Perlman syndrome [RCV003643616] Chr2:232130605 [GRCh38]
Chr2:232995315 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2218_2219delinsTC (p.Asn740Ser) indel Perlman syndrome [RCV003643629] Chr2:232334428..232334429 [GRCh38]
Chr2:233199138..233199139 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2512del (p.Ser838fs) deletion Perlman syndrome [RCV003643631] Chr2:232336484 [GRCh38]
Chr2:233201194 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1989C>T (p.Asn663=) single nucleotide variant Perlman syndrome [RCV003527832] Chr2:232330755 [GRCh38]
Chr2:233195465 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.338T>C (p.Val113Ala) single nucleotide variant Perlman syndrome [RCV003527833] Chr2:232030052 [GRCh38]
Chr2:232894762 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.593C>T (p.Ser198Phe) single nucleotide variant Perlman syndrome [RCV003529064] Chr2:232087713 [GRCh38]
Chr2:232952423 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2278G>A (p.Val760Ile) single nucleotide variant Perlman syndrome [RCV003643115] Chr2:232334488 [GRCh38]
Chr2:233199198 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2528T>A (p.Val843Asp) single nucleotide variant Perlman syndrome [RCV003643157] Chr2:232336500 [GRCh38]
Chr2:233201210 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.430G>T (p.Glu144Ter) single nucleotide variant Perlman syndrome [RCV003528603] Chr2:232087550 [GRCh38]
Chr2:232952260 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2632G>A (p.Glu878Lys) single nucleotide variant Perlman syndrome [RCV003529084] Chr2:232336604 [GRCh38]
Chr2:233201314 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1376C>G (p.Ser459Cys) single nucleotide variant Perlman syndrome [RCV003527904] Chr2:232249297 [GRCh38]
Chr2:233114007 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1837C>T (p.Pro613Ser) single nucleotide variant Perlman syndrome [RCV003529094] Chr2:232329910 [GRCh38]
Chr2:233194620 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2573A>T (p.Lys858Met) single nucleotide variant Perlman syndrome [RCV003529523] Chr2:232336545 [GRCh38]
Chr2:233201255 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.249C>G (p.Ala83=) single nucleotide variant Perlman syndrome [RCV003643772] Chr2:232024315 [GRCh38]
Chr2:232889025 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2394+18G>T single nucleotide variant Perlman syndrome [RCV003527924] Chr2:232334753 [GRCh38]
Chr2:233199463 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1694G>A (p.Gly565Glu) single nucleotide variant Perlman syndrome [RCV003529128] Chr2:232300074 [GRCh38]
Chr2:233164784 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2074A>C (p.Asn692His) single nucleotide variant Perlman syndrome [RCV003529411] Chr2:232333903 [GRCh38]
Chr2:233198613 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2496+19C>T single nucleotide variant Perlman syndrome [RCV003643419] Chr2:232335893 [GRCh38]
Chr2:233200603 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1455C>G (p.Ile485Met) single nucleotide variant Perlman syndrome [RCV003643780] Chr2:232263236 [GRCh38]
Chr2:233127946 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1690A>T (p.Thr564Ser) single nucleotide variant Perlman syndrome [RCV003643782] Chr2:232300070 [GRCh38]
Chr2:233164780 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1276G>C (p.Val426Leu) single nucleotide variant Perlman syndrome [RCV003643808] Chr2:232238604 [GRCh38]
Chr2:233103314 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.265-15C>T single nucleotide variant Perlman syndrome [RCV003643824] Chr2:232029964 [GRCh38]
Chr2:232894674 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2497-5C>T single nucleotide variant Perlman syndrome [RCV003529170] Chr2:232336464 [GRCh38]
Chr2:233201174 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.918G>A (p.Val306=) single nucleotide variant Perlman syndrome [RCV003642733] Chr2:232136687 [GRCh38]
Chr2:233001397 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1973A>C (p.Lys658Thr) single nucleotide variant Perlman syndrome [RCV003642789] Chr2:232330739 [GRCh38]
Chr2:233195449 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1611_1617del (p.Lys537fs) deletion Perlman syndrome [RCV003643898] Chr2:232263391..232263397 [GRCh38]
Chr2:233128101..233128107 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.2065T>G (p.Tyr689Asp) single nucleotide variant Perlman syndrome [RCV003529626] Chr2:232333894 [GRCh38]
Chr2:233198604 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.210+1G>C single nucleotide variant Perlman syndrome [RCV003529630] Chr2:232015672 [GRCh38]
Chr2:232880382 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.952C>T (p.Gln318Ter) single nucleotide variant Perlman syndrome [RCV003529647] Chr2:232163460 [GRCh38]
Chr2:233028170 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_152383.5(DIS3L2):c.1200T>A (p.Ala400=) single nucleotide variant Perlman syndrome [RCV003642690] Chr2:232210401 [GRCh38]
Chr2:233075111 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1531A>G (p.Lys511Glu) single nucleotide variant Perlman syndrome [RCV003642771] Chr2:232263312 [GRCh38]
Chr2:233128022 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.55G>A (p.Val19Met) single nucleotide variant Perlman syndrome [RCV003642844] Chr2:232015516 [GRCh38]
Chr2:232880226 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1318-11_1318-2del deletion Perlman syndrome [RCV003529253] Chr2:232249228..232249237 [GRCh38]
Chr2:233113938..233113947 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.2604T>G (p.Pro868=) single nucleotide variant Perlman syndrome [RCV003529260] Chr2:232336576 [GRCh38]
Chr2:233201286 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+3C>A single nucleotide variant Perlman syndrome [RCV003643988] Chr2:232130722 [GRCh38]
Chr2:232995432 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.324G>A (p.Gly108=) single nucleotide variant Perlman syndrome [RCV003643992] Chr2:232030038 [GRCh38]
Chr2:232894748 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2278G>T (p.Val760Phe) single nucleotide variant Perlman syndrome [RCV003643997] Chr2:232334488 [GRCh38]
Chr2:233199198 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1456A>T (p.Ile486Phe) single nucleotide variant Perlman syndrome [RCV003644015] Chr2:232263237 [GRCh38]
Chr2:233127947 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.334G>A (p.Val112Ile) single nucleotide variant Perlman syndrome [RCV003529276] Chr2:232030048 [GRCh38]
Chr2:232894758 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2412C>T (p.Ser804=) single nucleotide variant Perlman syndrome [RCV003529683] Chr2:232335790 [GRCh38]
Chr2:233200500 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1445G>T (p.Gly482Val) single nucleotide variant Perlman syndrome [RCV003529694] Chr2:232263226 [GRCh38]
Chr2:233127936 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1500G>A (p.Met500Ile) single nucleotide variant Perlman syndrome [RCV003643315] Chr2:232263281 [GRCh38]
Chr2:233127991 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1125-3T>C single nucleotide variant Perlman syndrome [RCV003643182] Chr2:232210323 [GRCh38]
Chr2:233075033 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1743C>G (p.Leu581=) single nucleotide variant Perlman syndrome [RCV003643453] Chr2:232329816 [GRCh38]
Chr2:233194526 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.366+5G>A single nucleotide variant Perlman syndrome [RCV003643312] Chr2:232030085 [GRCh38]
Chr2:232894795 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2011-11C>G single nucleotide variant Perlman syndrome [RCV003643535] Chr2:232333829 [GRCh38]
Chr2:233198539 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-16T>G single nucleotide variant Perlman syndrome [RCV003643439] Chr2:232300024 [GRCh38]
Chr2:233164734 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.367-19_367-18del deletion Perlman syndrome [RCV003643244] Chr2:232087468..232087469 [GRCh38]
Chr2:232952178..232952179 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.198A>T (p.Gly66=) single nucleotide variant Perlman syndrome [RCV003643292] Chr2:232015659 [GRCh38]
Chr2:232880369 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2010+17C>A single nucleotide variant Perlman syndrome [RCV003643686] Chr2:232330793 [GRCh38]
Chr2:233195503 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.46C>G (p.Pro16Ala) single nucleotide variant Perlman syndrome [RCV003643694] Chr2:232014973 [GRCh38]
Chr2:232879683 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1356G>A (p.Leu452=) single nucleotide variant Perlman syndrome [RCV003643331] Chr2:232249277 [GRCh38]
Chr2:233113987 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2159-3del deletion Perlman syndrome [RCV003643355] Chr2:232334364 [GRCh38]
Chr2:233199074 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1744G>T (p.Val582Leu) single nucleotide variant Perlman syndrome [RCV003643570] Chr2:232329817 [GRCh38]
Chr2:233194527 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1022G>T (p.Gly341Val) single nucleotide variant Perlman syndrome [RCV003643589] Chr2:232163530 [GRCh38]
Chr2:233028240 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2641G>C (p.Asp881His) single nucleotide variant Perlman syndrome [RCV003643730] Chr2:232336613 [GRCh38]
Chr2:233201323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1031T>C (p.Phe344Ser) single nucleotide variant Perlman syndrome [RCV003643837] Chr2:232163539 [GRCh38]
Chr2:233028249 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1008A>G (p.Ile336Met) single nucleotide variant Perlman syndrome [RCV003643874] Chr2:232163516 [GRCh38]
Chr2:233028226 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.562G>T (p.Asp188Tyr) single nucleotide variant Perlman syndrome [RCV003643917] Chr2:232087682 [GRCh38]
Chr2:232952392 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2239A>C (p.Lys747Gln) single nucleotide variant Perlman syndrome [RCV003643826] Chr2:232334449 [GRCh38]
Chr2:233199159 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2652C>T (p.Thr884=) single nucleotide variant Perlman syndrome [RCV003643647] Chr2:232336624 [GRCh38]
Chr2:233201334 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1923+6T>C single nucleotide variant Perlman syndrome [RCV003643877] Chr2:232330002 [GRCh38]
Chr2:233194712 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2159-18C>A single nucleotide variant Perlman syndrome [RCV003643739] Chr2:232334351 [GRCh38]
Chr2:233199061 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1590G>A (p.Leu530=) single nucleotide variant Perlman syndrome [RCV003644201] Chr2:232263371 [GRCh38]
Chr2:233128081 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2497-15C>A single nucleotide variant Perlman syndrome [RCV003644233] Chr2:232336454 [GRCh38]
Chr2:233201164 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702G>A (p.Lys234=) single nucleotide variant Perlman syndrome [RCV003644248] Chr2:232130719 [GRCh38]
Chr2:232995429 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.953A>T (p.Gln318Leu) single nucleotide variant Perlman syndrome [RCV003644294] Chr2:232163461 [GRCh38]
Chr2:233028171 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2094C>T (p.His698=) single nucleotide variant Perlman syndrome [RCV003643921] Chr2:232333923 [GRCh38]
Chr2:233198633 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1034C>A (p.Ser345Tyr) single nucleotide variant Perlman syndrome [RCV003643944] Chr2:232163542 [GRCh38]
Chr2:233028252 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1022G>A (p.Gly341Asp) single nucleotide variant Perlman syndrome [RCV003642664] Chr2:232163530 [GRCh38]
Chr2:233028240 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2340A>G (p.Gln780=) single nucleotide variant Perlman syndrome [RCV003642678] Chr2:232334681 [GRCh38]
Chr2:233199391 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2110C>T (p.Arg704Cys) single nucleotide variant Perlman syndrome [RCV003644145] Chr2:232333939 [GRCh38]
Chr2:233198649 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2088C>T (p.Tyr696=) single nucleotide variant Perlman syndrome [RCV003644196] Chr2:232333917 [GRCh38]
Chr2:233198627 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2436_2437delinsAC (p.Lys813Gln) indel Perlman syndrome [RCV003642700] Chr2:232335814..232335815 [GRCh38]
Chr2:233200524..233200525 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2415C>T (p.His805=) single nucleotide variant Perlman syndrome [RCV003644408] Chr2:232335793 [GRCh38]
Chr2:233200503 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1660-3C>T single nucleotide variant Perlman syndrome [RCV003644008] Chr2:232300037 [GRCh38]
Chr2:233164747 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2364C>T (p.Arg788=) single nucleotide variant Perlman syndrome [RCV003642739] Chr2:232334705 [GRCh38]
Chr2:233199415 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+10C>G single nucleotide variant Perlman syndrome [RCV003642808] Chr2:232335884 [GRCh38]
Chr2:233200594 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2115C>G (p.Arg705=) single nucleotide variant Perlman syndrome [RCV003644241] Chr2:232333944 [GRCh38]
Chr2:233198654 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2640G>A (p.Glu880=) single nucleotide variant Perlman syndrome [RCV003644319] Chr2:232336612 [GRCh38]
Chr2:233201322 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.210+18G>A single nucleotide variant Perlman syndrome [RCV003644473] Chr2:232015689 [GRCh38]
Chr2:232880399 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.406G>A (p.Ala136Thr) single nucleotide variant Perlman syndrome [RCV003644194] Chr2:232087526 [GRCh38]
Chr2:232952236 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.934T>C (p.Cys312Arg) single nucleotide variant Perlman syndrome [RCV003642649] Chr2:232136703 [GRCh38]
Chr2:233001413 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.366+17C>T single nucleotide variant Perlman syndrome [RCV003644456] Chr2:232030097 [GRCh38]
Chr2:232894807 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2540A>T (p.Glu847Val) single nucleotide variant Perlman syndrome [RCV003643127] Chr2:232336512 [GRCh38]
Chr2:233201222 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.741A>C (p.Ala247=) single nucleotide variant Perlman syndrome [RCV003644308] Chr2:232136510 [GRCh38]
Chr2:233001220 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2011-7C>T single nucleotide variant Perlman syndrome [RCV003644360] Chr2:232333833 [GRCh38]
Chr2:233198543 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.702+11A>C single nucleotide variant Perlman syndrome [RCV003643243] Chr2:232130730 [GRCh38]
Chr2:232995440 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1241G>A (p.Ser414Asn) single nucleotide variant Perlman syndrome [RCV003644474] Chr2:232238569 [GRCh38]
Chr2:233103279 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2496+15G>T single nucleotide variant Perlman syndrome [RCV003852348] Chr2:232335889 [GRCh38]
Chr2:233200599 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1266T>C (p.Asp422=) single nucleotide variant Perlman syndrome [RCV003850507] Chr2:232238594 [GRCh38]
Chr2:233103304 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.194G>A (p.Arg65Lys) single nucleotide variant Perlman syndrome [RCV003839667] Chr2:232015655 [GRCh38]
Chr2:232880365 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.836A>G (p.Tyr279Cys) single nucleotide variant Perlman syndrome [RCV003835025] Chr2:232136605 [GRCh38]
Chr2:233001315 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.216A>T (p.Val72=) single nucleotide variant Perlman syndrome [RCV003840129] Chr2:232024282 [GRCh38]
Chr2:232888992 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1803C>T (p.Phe601=) single nucleotide variant Perlman syndrome [RCV003816989] Chr2:232329876 [GRCh38]
Chr2:233194586 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.389A>G (p.Asp130Gly) single nucleotide variant Perlman syndrome [RCV003855274] Chr2:232087509 [GRCh38]
Chr2:232952219 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.161T>C (p.Met54Thr) single nucleotide variant Perlman syndrome [RCV003816261] Chr2:232015622 [GRCh38]
Chr2:232880332 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1659G>A (p.Gln553=) single nucleotide variant Perlman syndrome [RCV003840260] Chr2:232263440 [GRCh38]
Chr2:233128150 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.844C>T (p.Leu282Phe) single nucleotide variant Perlman syndrome [RCV003811631] Chr2:232136613 [GRCh38]
Chr2:233001323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2497-10C>T single nucleotide variant Perlman syndrome [RCV003844231] Chr2:232336459 [GRCh38]
Chr2:233201169 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2496+12T>G single nucleotide variant Perlman syndrome [RCV003861755] Chr2:232335886 [GRCh38]
Chr2:233200596 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1125-20G>A single nucleotide variant Perlman syndrome [RCV003861757] Chr2:232210306 [GRCh38]
Chr2:233075016 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2142C>T (p.Leu714=) single nucleotide variant Perlman syndrome [RCV003865059] Chr2:232333971 [GRCh38]
Chr2:233198681 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1740-9_1740-3del deletion Perlman syndrome [RCV003859226] Chr2:232329803..232329809 [GRCh38]
Chr2:233194513..233194519 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1253C>A (p.Pro418Gln) single nucleotide variant Perlman syndrome [RCV003844593] Chr2:232238581 [GRCh38]
Chr2:233103291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2641G>T (p.Asp881Tyr) single nucleotide variant Perlman syndrome [RCV003864600] Chr2:232336613 [GRCh38]
Chr2:233201323 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1820T>A (p.Leu607Gln) single nucleotide variant Perlman syndrome [RCV003846039] Chr2:232329893 [GRCh38]
Chr2:233194603 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2579C>T (p.Pro860Leu) single nucleotide variant Perlman syndrome [RCV003867037] Chr2:232336551 [GRCh38]
Chr2:233201261 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395-7A>G single nucleotide variant Perlman syndrome [RCV003866984] Chr2:232335766 [GRCh38]
Chr2:233200476 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1277T>C (p.Val426Ala) single nucleotide variant Perlman syndrome [RCV003845159] Chr2:232238605 [GRCh38]
Chr2:233103315 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2307G>A (p.Glu769=) single nucleotide variant Perlman syndrome [RCV003864583] Chr2:232334648 [GRCh38]
Chr2:233199358 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.612T>A (p.Asp204Glu) single nucleotide variant Perlman syndrome [RCV003871934] Chr2:232130629 [GRCh38]
Chr2:232995339 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2283G>A (p.Leu761=) single nucleotide variant Perlman syndrome [RCV003868928] Chr2:232334493 [GRCh38]
Chr2:233199203 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1317+21dup duplication Perlman syndrome [RCV003843638] Chr2:232238663..232238664 [GRCh38]
Chr2:233103373..233103374 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.85G>T (p.Gly29Cys) single nucleotide variant Perlman syndrome [RCV003857218] Chr2:232015546 [GRCh38]
Chr2:232880256 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.702+8C>T single nucleotide variant Perlman syndrome [RCV003865141] Chr2:232130727 [GRCh38]
Chr2:232995437 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1195C>T (p.Leu399Phe) single nucleotide variant Perlman syndrome [RCV003862715] Chr2:232210396 [GRCh38]
Chr2:233075106 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1625A>G (p.Gln542Arg) single nucleotide variant Perlman syndrome [RCV003847287] Chr2:232263406 [GRCh38]
Chr2:233128116 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.2395-4C>T single nucleotide variant Perlman syndrome [RCV003642412] Chr2:232335769 [GRCh38]
Chr2:233200479 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.1924-16T>C single nucleotide variant Perlman syndrome [RCV003642381] Chr2:232330674 [GRCh38]
Chr2:233195384 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1417G>A (p.Glu473Lys) single nucleotide variant Perlman syndrome [RCV003857548] Chr2:232249338 [GRCh38]
Chr2:233114048 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_152383.5(DIS3L2):c.1440G>A (p.Trp480Ter) single nucleotide variant Perlman syndrome [RCV004555263] Chr2:232263221 [GRCh38]
Chr2:233127931 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.702+45C>G single nucleotide variant not provided [RCV003885010] Chr2:232130764 [GRCh38]
Chr2:232995474 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.2299C>G (p.Pro767Ala) single nucleotide variant Inborn genetic diseases [RCV004375883] Chr2:232334640 [GRCh38]
Chr2:233199350 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.*7C>T single nucleotide variant DIS3L2-related disorder [RCV003969357] Chr2:232336637 [GRCh38]
Chr2:233201347 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001257281.2(DIS3L2):c.1723T>C (p.Phe575Leu) single nucleotide variant DIS3L2-related disorder [RCV003976989] Chr2:232343486 [GRCh38]
Chr2:233208196 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(233001430_233028168)_(233028343_233075035)dup duplication not specified [RCV004586298] Chr2:233028168..233028343 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.113_116del (p.Lys38fs) deletion Perlman syndrome [RCV004575821] Chr2:232015572..232015575 [GRCh38]
Chr2:232880282..232880285 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NC_000002.11:g.(?_233194596)_(233197054_?)del deletion Perlman syndrome [RCV004582504] Chr2:233194596..233197054 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NC_000002.11:g.(?_232948617)_(232952332_?)del deletion Perlman syndrome [RCV004582503] Chr2:232948617..232952332 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NC_000002.11:g.(?_233194503)_(233201340_?)dup duplication Perlman syndrome [RCV004582502] Chr2:233194503..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233075026)_(233201340_?)dup duplication Perlman syndrome [RCV004582500] Chr2:233075026..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233075026)_(233195496_?)dup duplication Perlman syndrome [RCV004582499] Chr2:233075026..233195496 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NC_000002.11:g.(?_233075026)_(233128160_?)dup duplication Perlman syndrome [RCV004582498] Chr2:233075026..233128160 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NC_000002.11:g.(?_232952177)_(233075135_?)del deletion Perlman syndrome [RCV004582497] Chr2:232952177..233075135 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233200473)_(233201340_?)del deletion Perlman syndrome [RCV004582496] Chr2:233200473..233201340 [GRCh37]
Chr2:2q37.1		 uncertain significance
NC_000002.11:g.(?_233028149)_(233028362_?)del deletion Perlman syndrome [RCV004582495] Chr2:233028149..233028362 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.11:g.(?_233194503)_(233399072_?)dup duplication Lethal multiple pterygium syndrome [RCV004582563] Chr2:233194503..233399072 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_152383.5(DIS3L2):c.1566_1569del (p.Ser522fs) deletion Perlman syndrome [RCV004575822] Chr2:232263345..232263348 [GRCh38]
Chr2:233128055..233128058 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.1702C>T (p.Gln568Ter) single nucleotide variant Perlman syndrome [RCV004575823] Chr2:232300082 [GRCh38]
Chr2:233164792 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_152383.5(DIS3L2):c.249C>A (p.Ala83=) single nucleotide variant DIS3L2-related disorder [RCV004751042] Chr2:232024315 [GRCh38]
Chr2:232889025 [GRCh37]
Chr2:2q37.1		 likely benign
NM_152383.5(DIS3L2):c.677A>T (p.Glu226Val) single nucleotide variant not provided [RCV004769820] Chr2:232130694 [GRCh38]
Chr2:232995404 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001257281.2(DIS3L2):c.1717C>T (p.Arg573Ter) single nucleotide variant DIS3L2-related disorder [RCV004752439] Chr2:232343480 [GRCh38]
Chr2:233208190 [GRCh37]
Chr2:2q37.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6844
Count of miRNA genes:1314
Interacting mature miRNAs:1746
Transcripts:ENST00000273009, ENST00000325385, ENST00000360410, ENST00000390005, ENST00000409307, ENST00000409401, ENST00000417808, ENST00000418143, ENST00000424049, ENST00000429283, ENST00000433430, ENST00000434477, ENST00000441279, ENST00000445090, ENST00000464554, ENST00000470087, ENST00000498319
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407018817GWAS667793_Hbody height QTL GWAS667793 (human)7e-10body height (VT:0001253)body height (CMO:0000106)2232244147232244148Human
407005765GWAS654741_HCCL5 measurement QTL GWAS654741 (human)0.000006CCL5 measurement2232134096232134097Human
407173198GWAS822174_Hforced expiratory volume, body mass index QTL GWAS822174 (human)1e-15forced expiratory volume, body mass indexbody mass index (BMI) (CMO:0000105)2231995613231995614Human
407277132GWAS926108_Hbody height QTL GWAS926108 (human)3e-118body height (VT:0001253)body height (CMO:0000106)2232191911232191912Human
407246167GWAS895143_Happendicular lean mass QTL GWAS895143 (human)3e-21appendicular lean mass2232209495232209496Human
407015761GWAS664737_Hbone density QTL GWAS664737 (human)1e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)2231968289231968290Human
406987350GWAS636326_HBack pain QTL GWAS636326 (human)0.0000004Back pain2232053189232053190Human
407141457GWAS790433_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS790433 (human)7e-09BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)2231995367231995368Human
406904410GWAS553386_HBMI-adjusted waist circumference QTL GWAS553386 (human)0.000004BMI-adjusted waist circumference2232320342232320343Human
406921562GWAS570538_Hlean body mass QTL GWAS570538 (human)5e-10body lean mass (VT:0010483)total body lean mass (CMO:0003950)2232230158232230159Human
407246168GWAS895144_Happendicular lean mass QTL GWAS895144 (human)3e-21appendicular lean mass2232229023232229024Human
406993248GWAS642224_HBMI-adjusted waist circumference QTL GWAS642224 (human)6e-28BMI-adjusted waist circumference2232230158232230159Human
407022959GWAS671935_Hbody height QTL GWAS671935 (human)3e-08body height (VT:0001253)body height (CMO:0000106)2232123872232123873Human
407019628GWAS668604_Hbody height QTL GWAS668604 (human)3e-09body height (VT:0001253)body height (CMO:0000106)2232290400232290401Human
407048301GWAS697277_Hbody height QTL GWAS697277 (human)3e-23body height (VT:0001253)body height (CMO:0000106)2232117547232117548Human
406885745GWAS534721_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS534721 (human)1e-09BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)2232320342232320343Human
407325557GWAS974533_Hbody weight QTL GWAS974533 (human)5e-14body mass (VT:0001259)body weight (CMO:0000012)2232319257232319258Human
407300466GWAS949442_Hlean body mass QTL GWAS949442 (human)2e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)2232267115232267116Human
406994554GWAS643530_HBMI-adjusted waist circumference QTL GWAS643530 (human)2e-12BMI-adjusted waist circumference2232334774232334775Human
406994555GWAS643531_HBMI-adjusted waist circumference QTL GWAS643531 (human)3e-18BMI-adjusted waist circumference2232037364232037365Human
406992251GWAS641227_Hbody height QTL GWAS641227 (human)0.0000002body height (VT:0001253)body height (CMO:0000106)2232222773232222774Human
407162237GWAS811213_HBMI-adjusted waist circumference QTL GWAS811213 (human)2e-09BMI-adjusted waist circumference2232320342232320343Human
407117179GWAS766155_Hsexual dimorphism measurement QTL GWAS766155 (human)5e-13sexual dimorphism measurement2232230158232230159Human
407143175GWAS792151_HBMI-adjusted waist circumference QTL GWAS792151 (human)1e-08BMI-adjusted waist circumference2231995367231995368Human
407110145GWAS759121_Hwaist-hip ratio QTL GWAS759121 (human)6e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)2232042582232042583Human
406921478GWAS570454_Hbody height QTL GWAS570454 (human)1e-82body height (VT:0001253)body height (CMO:0000106)2232181472232181473Human
406927881GWAS576857_Hbody height QTL GWAS576857 (human)1e-32body height (VT:0001253)body height (CMO:0000106)2232164455232164456Human
406927880GWAS576856_Hbody height QTL GWAS576856 (human)3e-89body height (VT:0001253)body height (CMO:0000106)2232125121232125122Human
407125517GWAS774493_Hsexual dimorphism measurement QTL GWAS774493 (human)3e-08sexual dimorphism measurement2232100831232100832Human
407125518GWAS774494_Hsexual dimorphism measurement QTL GWAS774494 (human)2e-08sexual dimorphism measurement2232051637232051638Human
407143176GWAS792152_HBMI-adjusted waist circumference QTL GWAS792152 (human)0.000009BMI-adjusted waist circumference2232320342232320343Human
407019796GWAS668772_Hbody height QTL GWAS668772 (human)3e-15body height (VT:0001253)body height (CMO:0000106)2232125121232125122Human
407355167GWAS1004143_HBMI-adjusted waist circumference QTL GWAS1004143 (human)4e-12BMI-adjusted waist circumference2232230158232230159Human
407117599GWAS766575_Hsexual dimorphism measurement QTL GWAS766575 (human)9e-10sexual dimorphism measurement2232255734232255735Human
407309084GWAS958060_Hbody height QTL GWAS958060 (human)7e-92body height (VT:0001253)body height (CMO:0000106)2232189185232189186Human
406898974GWAS547950_Hsmoking behavior, BMI-adjusted waist circumference QTL GWAS547950 (human)0.000003smoking behavior, BMI-adjusted waist circumference2232320342232320343Human
407244836GWAS893812_Hbody mass index, vital capacity QTL GWAS893812 (human)4e-16body mass index, vital capacitybody mass index (BMI) (CMO:0000105)2231995613231995614Human
407117863GWAS766839_Hsexual dimorphism measurement QTL GWAS766839 (human)4e-09sexual dimorphism measurement2232284890232284891Human
407117600GWAS766576_Hsexual dimorphism measurement QTL GWAS766576 (human)7e-09sexual dimorphism measurement2232257702232257703Human
406931753GWAS580729_Hbody height QTL GWAS580729 (human)0.0000002body height (VT:0001253)body height (CMO:0000106)2231973232231973233Human
407018026GWAS667002_Hbody height QTL GWAS667002 (human)7e-78body height (VT:0001253)body height (CMO:0000106)2232274083232274084Human
407018025GWAS667001_Hbody height QTL GWAS667001 (human)7e-104body height (VT:0001253)body height (CMO:0000106)2232125121232125122Human
407071533GWAS720509_Hanthropometric measurement QTL GWAS720509 (human)3e-11anthropometric measurementbody morphological measurement (CMO:0000021)2232256213232256214Human
407040820GWAS689796_HBMI-adjusted waist circumference QTL GWAS689796 (human)0.000002BMI-adjusted waist circumference2232320342232320343Human
407019067GWAS668043_Hbody height QTL GWAS668043 (human)3e-09body height (VT:0001253)body height (CMO:0000106)2232016135232016136Human
407019068GWAS668044_Hbody height QTL GWAS668044 (human)4e-24body height (VT:0001253)body height (CMO:0000106)2232189251232189252Human
407019069GWAS668045_Hbody height QTL GWAS668045 (human)2e-27body height (VT:0001253)body height (CMO:0000106)2232290856232290857Human
407213249GWAS862225_Hbody height QTL GWAS862225 (human)0.000004body height (VT:0001253)body height (CMO:0000106)2232222773232222774Human
407042765GWAS691741_Hsexual dimorphism measurement QTL GWAS691741 (human)2e-09sexual dimorphism measurement2232159698232159699Human
407183316GWAS832292_HBMI-adjusted waist circumference QTL GWAS832292 (human)1e-08BMI-adjusted waist circumference2232217092232217093Human
407275735GWAS924711_Hbody height QTL GWAS924711 (human)7e-167body height (VT:0001253)body height (CMO:0000106)2232055720232055721Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407050197GWAS699173_Hbody height QTL GWAS699173 (human)8e-44body height (VT:0001253)body height (CMO:0000106)2232189251232189252Human
407183315GWAS832291_HBMI-adjusted waist circumference QTL GWAS832291 (human)8e-12BMI-adjusted waist circumference2232301891232301892Human
406924763GWAS573739_Hbody height QTL GWAS573739 (human)1e-300body height (VT:0001253)body height (CMO:0000106)2232256048232256049Human
407275740GWAS924716_Hbody height QTL GWAS924716 (human)2e-252body height (VT:0001253)body height (CMO:0000106)2232336618232336619Human
406924762GWAS573738_Hbody height QTL GWAS573738 (human)1e-300body height (VT:0001253)body height (CMO:0000106)2232164455232164456Human
407275738GWAS924714_Hbody height QTL GWAS924714 (human)1e-300body height (VT:0001253)body height (CMO:0000106)2232229655232229656Human
407275739GWAS924715_Hbody height QTL GWAS924715 (human)1e-13body height (VT:0001253)body height (CMO:0000106)2232238737232238738Human
407275736GWAS924712_Hbody height QTL GWAS924712 (human)1e-09body height (VT:0001253)body height (CMO:0000106)2232116717232116718Human
407275737GWAS924713_Hbody height QTL GWAS924713 (human)1e-300body height (VT:0001253)body height (CMO:0000106)2232125121232125122Human
407042020GWAS690996_HBMI-adjusted waist circumference QTL GWAS690996 (human)2e-08BMI-adjusted waist circumference2232320342232320343Human
407266284GWAS915260_Hbody weight QTL GWAS915260 (human)4e-10body mass (VT:0001259)body weight (CMO:0000012)2232319257232319258Human
407286252GWAS935228_Hbody height QTL GWAS935228 (human)7e-42body height (VT:0001253)body height (CMO:0000106)2232063990232063991Human
407286253GWAS935229_Hbody height QTL GWAS935229 (human)6e-27body height (VT:0001253)body height (CMO:0000106)2232333663232333664Human
406995182GWAS644158_Hbody height QTL GWAS644158 (human)0.0000001body height (VT:0001253)body height (CMO:0000106)2232189251232189252Human
406916844GWAS565820_Hlean body mass QTL GWAS565820 (human)0.0000005body lean mass (VT:0010483)total body lean mass (CMO:0003950)2232230158232230159Human
406995181GWAS644157_Hbody height QTL GWAS644157 (human)0.0000008body height (VT:0001253)body height (CMO:0000106)2232290400232290401Human
407030770GWAS679746_Hvital capacity QTL GWAS679746 (human)4e-11vital capacity2232113504232113505Human
407183605GWAS832581_HBMI-adjusted waist circumference QTL GWAS832581 (human)7e-15BMI-adjusted waist circumference2232229655232229656Human
407183606GWAS832582_HBMI-adjusted waist circumference QTL GWAS832582 (human)2e-11BMI-adjusted waist circumference2232324474232324475Human
407033590GWAS682566_Hforced expiratory volume QTL GWAS682566 (human)4e-12forced expiratory volumeforced expiratory volume (CMO:0000254)2232113504232113505Human
407356147GWAS1005123_HBMI-adjusted hip circumference QTL GWAS1005123 (human)1e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232230158232230159Human
407356146GWAS1005122_HBMI-adjusted hip circumference QTL GWAS1005122 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232228605232228606Human
407354110GWAS1003086_HBMI-adjusted hip circumference QTL GWAS1003086 (human)3e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232210371232210372Human
407354109GWAS1003085_HBMI-adjusted hip circumference QTL GWAS1003085 (human)4e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232297108232297109Human
407354108GWAS1003084_HBMI-adjusted hip circumference QTL GWAS1003084 (human)6e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232230158232230159Human
407354107GWAS1003083_HBMI-adjusted hip circumference QTL GWAS1003083 (human)9e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232320342232320343Human
406991489GWAS640465_Hbody height QTL GWAS640465 (human)2e-08body height (VT:0001253)body height (CMO:0000106)2232212354232212355Human
406992263GWAS641239_Hbody height QTL GWAS641239 (human)3e-08body height (VT:0001253)body height (CMO:0000106)2232125121232125122Human
406992260GWAS641236_Hbody height QTL GWAS641236 (human)4e-08body height (VT:0001253)body height (CMO:0000106)2232123872232123873Human
407256449GWAS905425_Hbody height QTL GWAS905425 (human)7e-22body height (VT:0001253)body height (CMO:0000106)2232290400232290401Human
406928274GWAS577250_Hbody height QTL GWAS577250 (human)4e-15body height (VT:0001253)body height (CMO:0000106)2231973232231973233Human
406995863GWAS644839_Hbody mass index QTL GWAS644839 (human)6e-11body mass indexbody mass index (BMI) (CMO:0000105)2232117547232117548Human
407181469GWAS830445_HBMI-adjusted waist circumference QTL GWAS830445 (human)2e-11BMI-adjusted waist circumference2232250448232250449Human
407181468GWAS830444_HBMI-adjusted waist circumference QTL GWAS830444 (human)9e-14BMI-adjusted waist circumference2232230158232230159Human
406895770GWAS544746_Hsmoking behavior, BMI-adjusted waist circumference QTL GWAS544746 (human)0.000001smoking behavior, BMI-adjusted waist circumference2232320342232320343Human
406949275GWAS598251_HBMI-adjusted hip circumference QTL GWAS598251 (human)2e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232297108232297109Human
407162015GWAS810991_HBMI-adjusted waist circumference QTL GWAS810991 (human)0.000001BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)2231995367231995368Human
407181470GWAS830446_HBMI-adjusted waist circumference QTL GWAS830446 (human)1e-10BMI-adjusted waist circumference2232210371232210372Human
407050655GWAS699631_Hsexual dimorphism measurement QTL GWAS699631 (human)2e-09sexual dimorphism measurement2232230158232230159Human
407145625GWAS794601_HBMI-adjusted waist circumference QTL GWAS794601 (human)0.0000002BMI-adjusted waist circumference2232320342232320343Human
407145626GWAS794602_HBMI-adjusted waist circumference QTL GWAS794602 (human)0.0000009BMI-adjusted waist circumference2231995367231995368Human
407181467GWAS830443_HBMI-adjusted waist circumference QTL GWAS830443 (human)9e-11BMI-adjusted waist circumference2232100831232100832Human
406948766GWAS597742_HBMI-adjusted hip circumference QTL GWAS597742 (human)0.0000002BMI-adjusted hip circumferencehip circumference (CMO:0000014)2232297108232297109Human
406993315GWAS642291_HBMI-adjusted waist circumference QTL GWAS642291 (human)2e-09BMI-adjusted waist circumference2232316447232316448Human
406993316GWAS642292_HBMI-adjusted waist circumference QTL GWAS642292 (human)1e-08BMI-adjusted waist circumference2232170025232170026Human
406907560GWAS556536_Hbody height QTL GWAS556536 (human)5e-08body height (VT:0001253)body height (CMO:0000106)2232225628232225629Human
407019178GWAS668154_Hbody height QTL GWAS668154 (human)2e-73body height (VT:0001253)body height (CMO:0000106)2232229655232229656Human
407284654GWAS933630_Hbody height QTL GWAS933630 (human)3e-29body height (VT:0001253)body height (CMO:0000106)2232222773232222774Human
407307182GWAS956158_Hlean body mass QTL GWAS956158 (human)7e-13body lean mass (VT:0010483)total body lean mass (CMO:0003950)2232128864232128865Human
407284652GWAS933628_Hbody height QTL GWAS933628 (human)3e-20body height (VT:0001253)body height (CMO:0000106)2232125121232125122Human
407019945GWAS668921_Hbody height QTL GWAS668921 (human)9e-09body height (VT:0001253)body height (CMO:0000106)2232212354232212355Human
407284653GWAS933629_Hbody height QTL GWAS933629 (human)8e-38body height (VT:0001253)body height (CMO:0000106)2232212354232212355Human
407284651GWAS933627_Hbody height QTL GWAS933627 (human)2e-20body height (VT:0001253)body height (CMO:0000106)2232123872232123873Human
407305387GWAS954363_Hlean body mass QTL GWAS954363 (human)8e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)2232230158232230159Human
406897075GWAS546051_Hbody surface area QTL GWAS546051 (human)7e-20body surface area2232289035232289036Human
407240626GWAS889602_Hbody height QTL GWAS889602 (human)2e-09body height (VT:0001253)body height (CMO:0000106)2232063990232063991Human
407302065GWAS951041_HBMI-adjusted waist circumference QTL GWAS951041 (human)3e-08BMI-adjusted waist circumference2232015414232015415Human
406919866GWAS568842_Hbody height QTL GWAS568842 (human)9e-63body height (VT:0001253)body height (CMO:0000106)2232189185232189186Human
407195067GWAS844043_Hbody height QTL GWAS844043 (human)1e-70body height (VT:0001253)body height (CMO:0000106)2232181472232181473Human

Markers in Region
D2S1819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,151,069 - 233,151,183UniSTSGRCh37
Build 362232,859,313 - 232,859,427RGDNCBI36
Celera2226,915,234 - 226,915,348RGD
Cytogenetic Map2q37.1UniSTS
HuRef2225,001,910 - 225,002,024UniSTS
Whitehead-RH Map21062.4UniSTS
RH70119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372232,979,216 - 232,979,375UniSTSGRCh37
Build 362232,687,460 - 232,687,619RGDNCBI36
Celera2226,742,419 - 226,742,578RGD
Cytogenetic Map2q37.1UniSTS
HuRef2224,829,832 - 224,829,991UniSTS
GeneMap99-GB4 RH Map2718.74UniSTS
SHGC-80023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,100,638 - 233,100,915UniSTSGRCh37
Build 362232,808,882 - 232,809,159RGDNCBI36
Celera2226,863,774 - 226,864,051RGD
Cytogenetic Map2q37.1UniSTS
HuRef2224,951,098 - 224,951,375UniSTS
TNG Radiation Hybrid Map280989.0UniSTS
SHGC-147151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,162,384 - 233,162,724UniSTSGRCh37
Build 362232,870,628 - 232,870,968RGDNCBI36
Celera2226,926,549 - 226,926,888RGD
Cytogenetic Map2q37.1UniSTS
HuRef2225,013,226 - 225,013,564UniSTS
TNG Radiation Hybrid Map281038.0UniSTS
RH68821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,064,949 - 233,065,137UniSTSGRCh37
Build 362232,773,193 - 232,773,381RGDNCBI36
Celera2226,828,093 - 226,828,281RGD
Cytogenetic Map2q37.1UniSTS
HuRef2224,915,423 - 224,915,611UniSTS
GeneMap99-GB4 RH Map2718.74UniSTS
SHGC-112113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,138,758 - 233,139,051UniSTSGRCh37
Build 362232,847,002 - 232,847,295RGDNCBI36
Celera2226,902,927 - 226,903,220RGD
Cytogenetic Map2q37.1UniSTS
HuRef2224,989,600 - 224,989,893UniSTS
TNG Radiation Hybrid Map281105.0UniSTS
RH78132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,201,430 - 233,201,557UniSTSGRCh37
Build 362232,909,674 - 232,909,801RGDNCBI36
Celera2226,965,594 - 226,965,721RGD
Cytogenetic Map2q37.1UniSTS
HuRef2225,052,261 - 225,052,388UniSTS
A009Z08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372232,979,769 - 232,979,940UniSTSGRCh37
Build 362232,688,013 - 232,688,184RGDNCBI36
Celera2226,742,972 - 226,743,143RGD
Cytogenetic Map2q37.1UniSTS
HuRef2224,830,385 - 224,830,556UniSTS
GeneMap99-GB4 RH Map2720.28UniSTS
D2S2801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372232,921,839 - 232,922,000UniSTSGRCh37
Build 362232,630,083 - 232,630,244RGDNCBI36
Celera2226,685,067 - 226,685,228RGD
Cytogenetic Map2q37.1UniSTS
HuRef2224,772,671 - 224,772,832UniSTS
Stanford-G3 RH Map29107.0UniSTS
NCBI RH Map21867.9UniSTS
D10S16   No map positions available.
G33007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372232,979,769 - 232,979,940UniSTSGRCh37
Celera2226,742,972 - 226,743,143UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2224,830,385 - 224,830,556UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA781347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF307337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF443854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW589919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG746662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM128478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA058505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000273009   ⟹   ENSP00000273009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,961,245 - 232,344,350 (+)Ensembl
Ensembl Acc Id: ENST00000325385   ⟹   ENSP00000315569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,961,713 - 232,337,192 (+)Ensembl
Ensembl Acc Id: ENST00000390005   ⟹   ENSP00000374655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,961,684 - 232,337,198 (+)Ensembl
Ensembl Acc Id: ENST00000409307   ⟹   ENSP00000386799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,014,928 - 232,336,630 (+)Ensembl
Ensembl Acc Id: ENST00000409401   ⟹   ENSP00000386594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,961,684 - 232,131,890 (+)Ensembl
Ensembl Acc Id: ENST00000417808   ⟹   ENSP00000408764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,335,785 - 232,336,973 (+)Ensembl
Ensembl Acc Id: ENST00000418143   ⟹   ENSP00000401700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,334,660 - 232,336,974 (+)Ensembl
Ensembl Acc Id: ENST00000424049   ⟹   ENSP00000415419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,163,604 - 232,334,454 (+)Ensembl
Ensembl Acc Id: ENST00000429283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,328,508 - 232,336,976 (+)Ensembl
Ensembl Acc Id: ENST00000433430   ⟹   ENSP00000391175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,014,928 - 232,336,977 (+)Ensembl
Ensembl Acc Id: ENST00000434477   ⟹   ENSP00000392754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,333,943 - 232,340,999 (+)Ensembl
Ensembl Acc Id: ENST00000441279   ⟹   ENSP00000390467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,961,708 - 232,087,552 (+)Ensembl
Ensembl Acc Id: ENST00000445090   ⟹   ENSP00000388999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,961,692 - 232,336,555 (+)Ensembl
Ensembl Acc Id: ENST00000464554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,015,601 - 232,087,844 (+)Ensembl
Ensembl Acc Id: ENST00000470087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,015,852 - 232,130,875 (+)Ensembl
Ensembl Acc Id: ENST00000498319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2232,249,340 - 232,307,778 (+)Ensembl
RefSeq Acc Id: NM_001257281   ⟹   NP_001244210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,961,713 - 232,344,350 (+)NCBI
GRCh372232,826,293 - 233,208,678 (+)NCBI
HuRef2224,677,041 - 225,059,431 (+)NCBI
CHM1_12232,832,242 - 233,214,871 (+)NCBI
T2T-CHM13v2.02232,448,342 - 232,831,055 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257282   ⟹   NP_001244211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,961,713 - 232,130,886 (+)NCBI
GRCh372232,826,293 - 233,208,678 (+)NCBI
HuRef2224,677,041 - 225,059,431 (+)NCBI
CHM1_12232,832,242 - 233,001,611 (+)NCBI
T2T-CHM13v2.02232,448,342 - 232,617,466 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152383   ⟹   NP_689596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,961,713 - 232,337,192 (+)NCBI
GRCh372232,826,293 - 233,208,678 (+)NCBI
Build 362232,534,537 - 232,910,152 (+)NCBI Archive
Celera2226,589,534 - 226,966,072 (+)RGD
HuRef2224,677,041 - 225,059,431 (+)NCBI
CHM1_12232,832,242 - 233,208,101 (+)NCBI
T2T-CHM13v2.02232,448,342 - 232,823,897 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046476
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,961,713 - 232,337,192 (+)NCBI
GRCh372232,826,293 - 233,208,678 (+)NCBI
HuRef2224,677,041 - 225,059,431 (+)NCBI
CHM1_12232,832,242 - 233,208,101 (+)NCBI
T2T-CHM13v2.02232,448,342 - 232,823,897 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046477
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,961,713 - 232,337,192 (+)NCBI
GRCh372232,826,293 - 233,208,678 (+)NCBI
HuRef2224,677,041 - 225,059,431 (+)NCBI
CHM1_12232,832,242 - 233,208,101 (+)NCBI
T2T-CHM13v2.02232,448,342 - 232,823,897 (+)NCBI
Sequence:
RefSeq Acc Id: NP_689596   ⟸   NM_152383
- Peptide Label: isoform 1
- UniProtKB: Q7Z4T6 (UniProtKB/Swiss-Prot),   Q6AW99 (UniProtKB/Swiss-Prot),   Q69YG5 (UniProtKB/Swiss-Prot),   Q5XKH0 (UniProtKB/Swiss-Prot),   Q580W6 (UniProtKB/Swiss-Prot),   Q53S79 (UniProtKB/Swiss-Prot),   Q8N9K9 (UniProtKB/Swiss-Prot),   Q8IYB7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244210   ⟸   NM_001257281
- Peptide Label: isoform 2
- UniProtKB: Q8IYB7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244211   ⟸   NM_001257282
- Peptide Label: isoform 3
- UniProtKB: Q8IYB7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000415419   ⟸   ENST00000424049
Ensembl Acc Id: ENSP00000390467   ⟸   ENST00000441279
Ensembl Acc Id: ENSP00000408764   ⟸   ENST00000417808
Ensembl Acc Id: ENSP00000401700   ⟸   ENST00000418143
Ensembl Acc Id: ENSP00000315569   ⟸   ENST00000325385
Ensembl Acc Id: ENSP00000374655   ⟸   ENST00000390005
Ensembl Acc Id: ENSP00000273009   ⟸   ENST00000273009
Ensembl Acc Id: ENSP00000388999   ⟸   ENST00000445090
Ensembl Acc Id: ENSP00000391175   ⟸   ENST00000433430
Ensembl Acc Id: ENSP00000386594   ⟸   ENST00000409401
Ensembl Acc Id: ENSP00000386799   ⟸   ENST00000409307
Ensembl Acc Id: ENSP00000392754   ⟸   ENST00000434477
Protein Domains
DIS3-like exonuclease 2 C-terminal   Rrp44-like cold shock

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYB7-F1-model_v2 AlphaFold Q8IYB7 1-885 view protein structure

Promoters
RGD ID:6863078
Promoter ID:EPDNEW_H4704
Type:initiation region
Name:DIS3L2_1
Description:DIS3 like 3'-5' exoribonuclease 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4705  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,961,713 - 231,961,773EPDNEW
RGD ID:6863080
Promoter ID:EPDNEW_H4705
Type:single initiation site
Name:DIS3L2_2
Description:DIS3 like 3'-5' exoribonuclease 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4704  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,965,796 - 231,965,856EPDNEW
RGD ID:6797498
Promoter ID:HG_KWN:37728
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000360410,   ENST00000390005,   ENST00000409401,   NM_152383,   OTTHUMT00000330974,   OTTHUMT00000330977,   OTTHUMT00000330981,   UC002VSM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,534,334 - 232,534,834 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28648 AgrOrtholog
COSMIC DIS3L2 COSMIC
Ensembl Genes ENSG00000144535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273009 ENTREZGENE
  ENST00000273009.10 UniProtKB/Swiss-Prot
  ENST00000325385 ENTREZGENE
  ENST00000325385.12 UniProtKB/Swiss-Prot
  ENST00000390005 ENTREZGENE
  ENST00000390005.9 UniProtKB/Swiss-Prot
  ENST00000409401 ENTREZGENE
  ENST00000409401.7 UniProtKB/Swiss-Prot
  ENST00000417808.1 UniProtKB/TrEMBL
  ENST00000418143.1 UniProtKB/TrEMBL
  ENST00000433430.5 UniProtKB/Swiss-Prot
  ENST00000434477.5 UniProtKB/TrEMBL
  ENST00000441279.5 UniProtKB/TrEMBL
  ENST00000445090.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.700 UniProtKB/Swiss-Prot
GTEx ENSG00000144535 GTEx
HGNC ID HGNC:28648 ENTREZGENE
Human Proteome Map DIS3L2 Human Proteome Map
InterPro Dis3_CSD2 UniProtKB/Swiss-Prot
  DIS3L2 UniProtKB/Swiss-Prot
  Dis3l2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_II/R UniProtKB/Swiss-Prot
  RNase_II/R_CS UniProtKB/Swiss-Prot
  RNR_Ribonuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rrp44_CSD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:129563 UniProtKB/Swiss-Prot
NCBI Gene 129563 ENTREZGENE
OMIM 614184 OMIM
PANTHER DIS3-LIKE EXONUCLEASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBONUCLEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Dis3l2_C_term UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OB_Dis3 UniProtKB/Swiss-Prot
  RNB UniProtKB/Swiss-Prot
  Rrp44_CSD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162383714 PharmGKB
PROSITE RIBONUCLEASE_II UniProtKB/Swiss-Prot
SMART RNB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JGP4_HUMAN UniProtKB/TrEMBL
  DI3L2_HUMAN UniProtKB/Swiss-Prot
  H7C036_HUMAN UniProtKB/TrEMBL
  H7C1Q8_HUMAN UniProtKB/TrEMBL
  H7C302_HUMAN UniProtKB/TrEMBL
  Q53S79 ENTREZGENE
  Q580W6 ENTREZGENE
  Q5XKH0 ENTREZGENE
  Q69YG5 ENTREZGENE
  Q6AW99 ENTREZGENE
  Q7Z4T6 ENTREZGENE
  Q8IYB7 ENTREZGENE
  Q8N9K9 ENTREZGENE
UniProt Secondary Q53S79 UniProtKB/Swiss-Prot
  Q580W6 UniProtKB/Swiss-Prot
  Q5XKH0 UniProtKB/Swiss-Prot
  Q69YG5 UniProtKB/Swiss-Prot
  Q6AW99 UniProtKB/Swiss-Prot
  Q7Z4T6 UniProtKB/Swiss-Prot
  Q8N9K9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 DIS3L2  DIS3 like 3'-5' exoribonuclease 2  FAM6A  family with sequence similarity 6, member A  Data merged from RGD:1349970 737654 PROVISIONAL
2014-03-12 DIS3L2  DIS3 like 3'-5' exoribonuclease 2    DIS3 mitotic control homolog (S. cerevisiae)-like 2  Symbol and/or name change 5135510 APPROVED