SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) - Rat Genome Database

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Gene: SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) Homo sapiens
Analyze
Symbol: SMARCAL1
Name: SNF2 related chromatin remodeling annealing helicase 1 (Ensembl:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1)
RGD ID: 1314575
HGNC Page HGNC:11102
Description: Enables ATP-dependent DNA/DNA annealing activity. Involved in double-strand break repair via nonhomologous end joining; regulation of transcription by RNA polymerase II; and replication fork processing. Located in DNA replication factor A complex; nucleoplasm; and site of double-strand break. Implicated in Schimke immuno-osseous dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-driven annealing helicase; HARP; HepA-related protein; HHARP; SMARCA-like protein 1; sucrose nonfermenting protein 2-like 1; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382216,412,484 - 216,483,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2216,412,383 - 216,483,053 (+)EnsemblGRCh38hg38GRCh38
GRCh372217,277,207 - 217,347,776 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,986,820 - 217,056,021 (+)NCBINCBI36Build 36hg18NCBI36
Build 342217,104,083 - 217,173,278NCBI
Celera2211,045,111 - 211,115,648 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2209,131,595 - 209,202,094 (+)NCBIHuRef
CHM1_12217,282,680 - 217,353,309 (+)NCBICHM1_1
T2T-CHM13v2.02216,894,907 - 216,965,465 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal circulating immunoglobulin concentration  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal femoral head morphology  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormal lymphocyte physiology  (IAGP)
Abnormal primary molar morphology  (IAGP)
Abnormal proportion of naive CD4 T cells  (IAGP)
Abnormal T cell morphology  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of thyroid physiology  (IAGP)
Abnormally high-pitched voice  (IAGP)
Anemia  (IAGP)
Aphasia  (IAGP)
Arteriosclerosis  (IAGP)
Arteriosclerosis of small cerebral arteries  (IAGP)
Astigmatism  (IAGP)
Atherosclerosis  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral cryptorchidism  (IAGP)
Bone marrow hypocellularity  (IAGP)
Broad nasal tip  (IAGP)
Bulbous nose  (IAGP)
Cerebral ischemia  (IAGP)
Coarse hair  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Corneal opacity  (IAGP)
Decreased body weight  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased proportion of naive CD8 T cells  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Dysarthria  (IAGP)
Dyspnea  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Fine hair  (IAGP)
Focal hemiclonic seizure  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hyperlipidemia  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplastic pelvis  (IAGP)
Impaired T cell function  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Ischemic stroke  (IAGP)
Lateral displacement of the femoral head  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lymphopenia  (IAGP)
Lymphoproliferative disorder  (IAGP)
Macule  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Microscopic hematuria  (IAGP)
Migraine  (IAGP)
Minimal change glomerulonephritis  (IAGP)
Motor delay  (IAGP)
Multiple lentigines  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Nephropathy  (IAGP)
Nephrotic range proteinuria  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia  (IAGP)
Non-Hodgkin lymphoma  (IAGP)
Opacification of the corneal stroma  (IAGP)
Osteopenia  (IAGP)
Ovoid vertebral bodies  (IAGP)
Pancreatitis  (IAGP)
Pancytopenia  (IAGP)
Platyspondyly  (IAGP)
Premature birth  (IAGP)
Primary microcephaly  (IAGP)
Proteinuria  (IAGP)
Protuberant abdomen  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent infections  (IAGP)
Renal insufficiency  (IAGP)
Seizure  (IAGP)
Severe T-cell immunodeficiency  (IAGP)
Shallow acetabular fossae  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Small for gestational age  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Status epilepticus  (IAGP)
Steroid-resistant nephrotic syndrome  (IAGP)
Stroke  (IAGP)
Talipes equinovarus  (IAGP)
Thoracic kyphosis  (IAGP)
Thrombocytopenia  (IAGP)
Transient ischemic attack  (IAGP)
Triangular face  (IAGP)
Waddling gait  (IAGP)
Wide capital femoral epiphyses  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel CF, etal., Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.
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:10713074   PMID:10857751   PMID:12471207   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16237566   PMID:16344560   PMID:16840568   PMID:17089404   PMID:18356746   PMID:18520775  
PMID:18805831   PMID:18974355   PMID:19127206   PMID:19752368   PMID:19793861   PMID:19793862   PMID:19793863   PMID:19793864   PMID:19841479   PMID:20179009   PMID:20301550   PMID:20379614  
PMID:21327070   PMID:21504906   PMID:21525954   PMID:21873635   PMID:22242598   PMID:22279047   PMID:22378147   PMID:22705370   PMID:22939629   PMID:22995303   PMID:23630135   PMID:23671665  
PMID:23873943   PMID:24126761   PMID:24197801   PMID:24332808   PMID:24565939   PMID:24589093   PMID:24730652   PMID:24910198   PMID:24981860   PMID:25319549   PMID:25609649   PMID:25921289  
PMID:26089390   PMID:26195148   PMID:26474068   PMID:26578802   PMID:26648259   PMID:26832416   PMID:26843359   PMID:26949251   PMID:27355316   PMID:27723720   PMID:27797382   PMID:27813696  
PMID:27918544   PMID:28514442   PMID:28623093   PMID:28716689   PMID:28954549   PMID:28986522   PMID:29053959   PMID:29331416   PMID:29507755   PMID:29576527   PMID:30317028   PMID:30598452  
PMID:30686591   PMID:31182584   PMID:31255466   PMID:31515241   PMID:32416067   PMID:32457219   PMID:32528060   PMID:32694731   PMID:32754981   PMID:32971328   PMID:32971831   PMID:33644029  
PMID:33961781   PMID:34031513   PMID:34048709   PMID:34103668   PMID:35209826   PMID:35271311   PMID:35509820   PMID:35831314   PMID:36129980   PMID:36215168   PMID:36244648   PMID:36689342  
PMID:37689310   PMID:37827155   PMID:38416570   PMID:38697461  


Genomics

Comparative Map Data
SMARCAL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382216,412,484 - 216,483,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2216,412,383 - 216,483,053 (+)EnsemblGRCh38hg38GRCh38
GRCh372217,277,207 - 217,347,776 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,986,820 - 217,056,021 (+)NCBINCBI36Build 36hg18NCBI36
Build 342217,104,083 - 217,173,278NCBI
Celera2211,045,111 - 211,115,648 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2209,131,595 - 209,202,094 (+)NCBIHuRef
CHM1_12217,282,680 - 217,353,309 (+)NCBICHM1_1
T2T-CHM13v2.02216,894,907 - 216,965,465 (+)NCBIT2T-CHM13v2.0
Smarcal1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39172,575,593 - 72,675,949 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl172,622,410 - 72,672,293 (+)EnsemblGRCm39 Ensembl
GRCm38172,536,695 - 72,636,790 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl172,583,251 - 72,633,134 (+)EnsemblGRCm38mm10GRCm38
MGSCv37172,629,825 - 72,683,364 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36172,516,478 - 72,566,341 (+)NCBIMGSCv36mm8
Celera173,151,284 - 73,205,338 (+)NCBICelera
Cytogenetic Map1C3NCBI
cM Map136.72NCBI
Smarcal1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8981,689,446 - 81,735,406 (+)NCBIGRCr8
mRatBN7.2974,239,718 - 74,286,156 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl974,240,241 - 74,286,146 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx982,695,787 - 82,741,329 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0987,824,678 - 87,870,214 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0986,211,255 - 86,256,747 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0979,943,775 - 79,990,230 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl979,944,132 - 79,990,229 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0979,716,012 - 79,762,216 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4971,780,870 - 71,827,780 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1971,930,360 - 71,974,752 (+)NCBI
Celera971,834,400 - 71,880,797 (+)NCBICelera
Cytogenetic Map9q33NCBI
Smarcal1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545316,719,931 - 16,784,709 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545316,724,286 - 16,784,129 (-)NCBIChiLan1.0ChiLan1.0
SMARCAL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213119,040,341 - 119,111,253 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B119,055,327 - 119,126,253 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B103,672,934 - 103,743,802 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B222,276,294 - 222,347,258 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B222,276,353 - 222,347,258 (+)Ensemblpanpan1.1panPan2
SMARCAL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13723,364,941 - 23,425,206 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3723,367,220 - 23,419,248 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3724,193,550 - 24,253,982 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03723,392,255 - 23,452,837 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3723,392,945 - 23,447,926 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13723,277,174 - 23,331,540 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03723,229,412 - 23,289,770 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03723,247,796 - 23,308,267 (+)NCBIUU_Cfam_GSD_1.0
Smarcal1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303171,702,084 - 171,797,210 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936586828,650 - 888,047 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936586828,661 - 887,988 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMARCAL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15118,627,497 - 118,688,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115118,627,734 - 118,688,005 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215131,503,125 - 131,506,635 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMARCAL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110102,253,187 - 102,319,356 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10102,255,453 - 102,319,330 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604097,083,733 - 97,149,570 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smarcal1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248238,644,826 - 8,706,591 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248238,645,340 - 8,708,039 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMARCAL1
1027 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294344]|Schimke immuno-osseous dysplasia [RCV000543390]|not provided [RCV004708930] Chr2:216428691 [GRCh38]
Chr2:217293414 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) single nucleotide variant Familial atrioventricular septal defect [RCV000415311]|Nephrotic syndrome [RCV001849255]|Schimke immuno-osseous dysplasia [RCV000004388]|not provided [RCV002472924] Chr2:216478216 [GRCh38]
Chr2:217342939 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000004389] Chr2:216414753 [GRCh38]
Chr2:217279476 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000004390] Chr2:216414804 [GRCh38]
Chr2:217279527 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1643T>A (p.Ile548Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000004391] Chr2:216435495 [GRCh38]
Chr2:217300218 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000004392] Chr2:216450927 [GRCh38]
Chr2:217315650 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) single nucleotide variant Nephrotic syndrome [RCV001849256]|Schimke immuno-osseous dysplasia [RCV000004393] Chr2:216447063 [GRCh38]
Chr2:217311786 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
SMARCAL1, 4-BP DEL, 1146AAGT deletion Schimke immuno-osseous dysplasia [RCV000004394] Chr2:2q34-q36 pathogenic
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000004395] Chr2:216475315 [GRCh38]
Chr2:217340038 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1851+5G>A single nucleotide variant SMARCAL1-related disorder [RCV003960300]|Schimke immuno-osseous dysplasia [RCV000544902]|not provided [RCV000593130] Chr2:216447163 [GRCh38]
Chr2:217311886 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 2q35(chr2:215079289-216799770)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|See cases [RCV000052731] Chr2:215079289..216799770 [GRCh38]
Chr2:215944012..217664493 [GRCh37]
Chr2:215652257..217372738 [NCBI36]
Chr2:2q35		 uncertain significance
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 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294070]|Schimke immuno-osseous dysplasia [RCV000360766]|not provided [RCV001610497]|not specified [RCV000179473] Chr2:216423665 [GRCh38]
Chr2:217288388 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) single nucleotide variant Kidney disorder [RCV002294067]|Schimke immuno-osseous dysplasia [RCV000306410]|not provided [RCV001610493]|not specified [RCV000178930] Chr2:216420396 [GRCh38]
Chr2:217285119 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294068]|Schimke immuno-osseous dysplasia [RCV000390495]|not provided [RCV001610494]|not specified [RCV000178931] Chr2:216420381 [GRCh38]
Chr2:217285104 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) single nucleotide variant Kidney disorder [RCV002294066]|Schimke immuno-osseous dysplasia [RCV000294706]|not provided [RCV001706133]|not specified [RCV000177274] Chr2:216415045 [GRCh38]
Chr2:217279768 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.1645-11C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002189327] Chr2:216438409 [GRCh38]
Chr2:217303132 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) single nucleotide variant Inborn genetic diseases [RCV002517671]|SMARCAL1-related disorder [RCV004751331]|Schimke immuno-osseous dysplasia [RCV000819575]|not provided [RCV000174124] Chr2:216447093 [GRCh38]
Chr2:217311816 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2449C>A (p.Arg817Ser) single nucleotide variant not provided [RCV000175071] Chr2:216477130 [GRCh38]
Chr2:217341853 [GRCh37]
Chr2:2q35		 uncertain significance
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 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q35(chr2:215908412-216680325)x3 copy number gain See cases [RCV000139191] Chr2:215908412..216680325 [GRCh38]
Chr2:216773135..217545048 [GRCh37]
Chr2:216481380..217253293 [NCBI36]
Chr2:2q35		 likely benign
GRCh38/hg38 2q35(chr2:216266846-216782346)x3 copy number gain See cases [RCV000141826] Chr2:216266846..216782346 [GRCh38]
Chr2:217131569..217647069 [GRCh37]
Chr2:216839814..217355314 [NCBI36]
Chr2:2q35		 pathogenic|conflicting data from submitters
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
NM_014140.4(SMARCAL1):c.1132G>T (p.Glu378Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000202608] Chr2:216423668 [GRCh38]
Chr2:217288391 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) single nucleotide variant Inborn genetic diseases [RCV004020134]|SMARCAL1-related disorder [RCV003907622]|Schimke immuno-osseous dysplasia [RCV001080195]|not provided [RCV000178929] Chr2:216420398 [GRCh38]
Chr2:217285121 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1128G>A (p.Leu376=) single nucleotide variant not provided [RCV000179474] Chr2:216423664 [GRCh38]
Chr2:217288387 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001396263]|not provided [RCV000177275] Chr2:216415379 [GRCh38]
Chr2:217280102 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) single nucleotide variant SMARCAL1-related disorder [RCV004751337]|Schimke immuno-osseous dysplasia [RCV001088116]|not provided [RCV000177276] Chr2:216415044 [GRCh38]
Chr2:217279767 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.-114G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000264418] Chr2:216412630 [GRCh38]
Chr2:217277353 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.-218C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV000265625]|not provided [RCV004709900] Chr2:216412526 [GRCh38]
Chr2:217277249 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) single nucleotide variant SMARCAL1-related disorder [RCV003912407]|Schimke immuno-osseous dysplasia [RCV000302549]|See cases [RCV004584212]|not provided [RCV000594612] Chr2:216428644 [GRCh38]
Chr2:217293367 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) single nucleotide variant Kidney disorder [RCV002294215]|SMARCAL1-related disorder [RCV003930074]|Schimke immuno-osseous dysplasia [RCV000262629]|not provided [RCV001573671]|not specified [RCV000397091] Chr2:216428719 [GRCh38]
Chr2:217293442 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2528+15G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000383949] Chr2:216477224 [GRCh38]
Chr2:217341947 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2321C>A (p.Ser774Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000524685] Chr2:216475345 [GRCh38]
Chr2:217340068 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) single nucleotide variant Kidney disorder [RCV002294345]|Schimke immuno-osseous dysplasia [RCV000548531] Chr2:216468027 [GRCh38]
Chr2:217332750 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.812-15T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV000310004] Chr2:216416242 [GRCh38]
Chr2:217280965 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000357351] Chr2:216428699 [GRCh38]
Chr2:217293422 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) single nucleotide variant Kidney disorder [RCV002294289]|Schimke immuno-osseous dysplasia [RCV000279637] Chr2:216414776 [GRCh38]
Chr2:217279499 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.-164G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000268044] Chr2:216412580 [GRCh38]
Chr2:217277303 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000293182]|not provided [RCV001711569]|not specified [RCV000251280] Chr2:216451064 [GRCh38]
Chr2:217315787 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.2141+17T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001515970]|not provided [RCV001683069]|not specified [RCV000241672] Chr2:216464684 [GRCh38]
Chr2:217329407 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294171]|Schimke immuno-osseous dysplasia [RCV000387527]|not provided [RCV001589267]|not specified [RCV000241755] Chr2:216450941 [GRCh38]
Chr2:217315664 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000536040]|not provided [RCV004710662]|not specified [RCV000246741] Chr2:216450989 [GRCh38]
Chr2:217315712 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000556019]|not provided [RCV001528049]|not specified [RCV000244323] Chr2:216420337 [GRCh38]
Chr2:217285060 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294172]|Schimke immuno-osseous dysplasia [RCV000349650]|not provided [RCV001536496]|not specified [RCV000244412] Chr2:216415127 [GRCh38]
Chr2:217279850 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.765T>C (p.Asn255=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001476433]|not specified [RCV000252327] Chr2:216415469 [GRCh38]
Chr2:217280192 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1902G>A (p.Lys634=) single nucleotide variant not specified [RCV000250187] Chr2:216450896 [GRCh38]
Chr2:217315619 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+8G>A single nucleotide variant SMARCAL1-related disorder [RCV003950153]|Schimke immuno-osseous dysplasia [RCV000266036] Chr2:216423691 [GRCh38]
Chr2:217288414 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) single nucleotide variant SMARCAL1-related disorder [RCV003891944]|Schimke immuno-osseous dysplasia [RCV000638575] Chr2:216415307 [GRCh38]
Chr2:217280030 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000348154]|not specified [RCV000247869] Chr2:216468028 [GRCh38]
Chr2:217332751 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000389009]|not provided [RCV001551485]|not specified [RCV000245623] Chr2:216414831 [GRCh38]
Chr2:217279554 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) single nucleotide variant SMARCAL1-related disorder [RCV003972409]|Schimke immuno-osseous dysplasia [RCV000277452] Chr2:216432797 [GRCh38]
Chr2:217297520 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.-48C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000374123]|not provided [RCV004694529] Chr2:216414657 [GRCh38]
Chr2:217279380 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.-137A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV000377672] Chr2:216412607 [GRCh38]
Chr2:217277330 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000317821] Chr2:216432790 [GRCh38]
Chr2:217297513 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000402266] Chr2:216415304 [GRCh38]
Chr2:217280027 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.-200G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000304414] Chr2:216412544 [GRCh38]
Chr2:217277267 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.-141G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000323082] Chr2:216412603 [GRCh38]
Chr2:217277326 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.*13G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV000344595] Chr2:216482990 [GRCh38]
Chr2:217347713 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.863-9C>G single nucleotide variant SMARCAL1-related disorder [RCV003950152]|Schimke immuno-osseous dysplasia [RCV000346127]|not provided [RCV000729632] Chr2:216420290 [GRCh38]
Chr2:217285013 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000372506] Chr2:216432796 [GRCh38]
Chr2:217297519 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.*30T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV000395658] Chr2:216483007 [GRCh38]
Chr2:217347730 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001079064]|not provided [RCV000373353] Chr2:216475364 [GRCh38]
Chr2:217340087 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000765601]|not provided [RCV000342892] Chr2:216420437 [GRCh38]
Chr2:217285160 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2528+5G>C single nucleotide variant Focal segmental glomerulosclerosis [RCV002294217]|SMARCAL1-related disorder [RCV003409414]|Schimke immuno-osseous dysplasia [RCV001083997]|not provided [RCV000380004] Chr2:216477214 [GRCh38]
Chr2:217341937 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001242768]|not provided [RCV000319671] Chr2:216482877 [GRCh38]
Chr2:217347600 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000765602]|not provided [RCV000393639] Chr2:216432810 [GRCh38]
Chr2:217297533 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.527C>G (p.Thr176Arg) single nucleotide variant not provided [RCV000323953] Chr2:216415231 [GRCh38]
Chr2:217279954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611509]|not provided [RCV000359105] Chr2:216482857 [GRCh38]
Chr2:217347580 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) single nucleotide variant SMARCAL1-related disorder [RCV003909931]|Schimke immuno-osseous dysplasia [RCV001440909]|not provided [RCV000360943] Chr2:216482890 [GRCh38]
Chr2:217347613 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1485+10C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001482845]|not provided [RCV000363313] Chr2:216432878 [GRCh38]
Chr2:217297601 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002487272]|not provided [RCV000401740] Chr2:216475345 [GRCh38]
Chr2:217340068 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) single nucleotide variant SMARCAL1-related disorder [RCV003940048]|Schimke immuno-osseous dysplasia [RCV001080721]|not provided [RCV000296065] Chr2:216475346 [GRCh38]
Chr2:217340069 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.810T>C (p.Tyr270=) single nucleotide variant not provided [RCV000330782] Chr2:216415514 [GRCh38]
Chr2:217280237 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003989520]|not provided [RCV000329770] Chr2:216468003 [GRCh38]
Chr2:217332726 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) single nucleotide variant Inborn genetic diseases [RCV004668884]|Schimke immuno-osseous dysplasia [RCV000794187]|not provided [RCV000332107] Chr2:216447069 [GRCh38]
Chr2:217311792 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2529-4A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002480022]|not provided [RCV000369669] Chr2:216478199 [GRCh38]
Chr2:217342922 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001279832] Chr2:216415086 [GRCh38]
Chr2:217279809 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) single nucleotide variant Inborn genetic diseases [RCV002526018]|Schimke immuno-osseous dysplasia [RCV000814798]|not provided [RCV000489879] Chr2:216447034 [GRCh38]
Chr2:217311757 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001867935]|not provided [RCV000594740] Chr2:216435348 [GRCh38]
Chr2:217300071 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.-170C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV000361508] Chr2:216412574 [GRCh38]
Chr2:217277297 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) single nucleotide variant Nephrotic syndrome [RCV001849404]|Schimke immuno-osseous dysplasia [RCV000586742] Chr2:216475314 [GRCh38]
Chr2:217340037 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1485+8G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000333076] Chr2:216432876 [GRCh38]
Chr2:217297599 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1732T>C (p.Leu578=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000638574] Chr2:216447039 [GRCh38]
Chr2:217311762 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.-82T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV000319443] Chr2:216413869 [GRCh38]
Chr2:217278592 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000334662] Chr2:216414780 [GRCh38]
Chr2:217279503 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001241951]|not provided [RCV000592279] Chr2:216415210 [GRCh38]
Chr2:217279933 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002498879]|not provided [RCV000599374] Chr2:216432866 [GRCh38]
Chr2:217297589 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.1499_1500delinsTT (p.Trp500Phe) indel not provided [RCV000599252] Chr2:216435351..216435352 [GRCh38]
Chr2:217300074..217300075 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2427+9C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001088206]|not provided [RCV000598419] Chr2:216475460 [GRCh38]
Chr2:217340183 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2009A>G (p.Asn670Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000638570] Chr2:216451003 [GRCh38]
Chr2:217315726 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.415_416del (p.Leu139fs) deletion Schimke immuno-osseous dysplasia [RCV001035667]|not provided [RCV000735045] Chr2:216415119..216415120 [GRCh38]
Chr2:217279842..217279843 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2427+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV000735766] Chr2:216475452 [GRCh38]
Chr2:217340175 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) single nucleotide variant Familial atrioventricular septal defect [RCV000414912]|Schimke immuno-osseous dysplasia [RCV001196355] Chr2:216415427 [GRCh38]
Chr2:217280150 [GRCh37]
Chr2:2q35		 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
NM_014140.4(SMARCAL1):c.1190T>C (p.Leu397Pro) single nucleotide variant not provided [RCV000421318] Chr2:216428638 [GRCh38]
Chr2:217293361 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2448C>A (p.Asp816Glu) single nucleotide variant not provided [RCV000431974] Chr2:216477129 [GRCh38]
Chr2:217341852 [GRCh37]
Chr2:2q35		 likely pathogenic
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
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_014140.4(SMARCAL1):c.1064C>T (p.Ala355Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000768320] Chr2:216420500 [GRCh38]
Chr2:217285223 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) single nucleotide variant SMARCAL1-related disorder [RCV003928076]|Schimke immuno-osseous dysplasia [RCV000638576]|not provided [RCV003437349] Chr2:216428660 [GRCh38]
Chr2:217293383 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.922A>G (p.Ser308Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000638571] Chr2:216420358 [GRCh38]
Chr2:217285081 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) single nucleotide variant Inborn genetic diseases [RCV004025517]|Schimke immuno-osseous dysplasia [RCV000638569] Chr2:216482847 [GRCh38]
Chr2:217347570 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1641C>G (p.Ile547Met) single nucleotide variant Inborn genetic diseases [RCV003261584] Chr2:216435493 [GRCh38]
Chr2:217300216 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000638568] Chr2:216415439 [GRCh38]
Chr2:217280162 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) single nucleotide variant SMARCAL1-related disorder [RCV003945610]|Schimke immuno-osseous dysplasia [RCV000638572] Chr2:216482753 [GRCh38]
Chr2:217347476 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.2712G>A (p.Glu904=) single nucleotide variant SMARCAL1-related disorder [RCV003979972]|Schimke immuno-osseous dysplasia [RCV000537524] Chr2:216482824 [GRCh38]
Chr2:217347547 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) single nucleotide variant SMARCAL1-related disorder [RCV003962664]|Schimke immuno-osseous dysplasia [RCV001085317]|not provided [RCV000597095] Chr2:216420363 [GRCh38]
Chr2:217285086 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) duplication Schimke immuno-osseous dysplasia [RCV000625629]|See cases [RCV004584219] Chr2:216432766..216432767 [GRCh38]
Chr2:217297489..217297490 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002491188]|not provided [RCV000598435] Chr2:216447082 [GRCh38]
Chr2:217311805 [GRCh37]
Chr2:2q35		 uncertain significance
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
NM_014140.4(SMARCAL1):c.2570G>A (p.Gly857Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000590927] Chr2:216478244 [GRCh38]
Chr2:217342967 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.114G>T (p.Ser38=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002062048]|not provided [RCV000595390] Chr2:216414818 [GRCh38]
Chr2:217279541 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
NM_014140.4(SMARCAL1):c.863-2A>G single nucleotide variant SMARCAL1-related disorder [RCV003420206]|Schimke immuno-osseous dysplasia [RCV000797448]|not provided [RCV000681817] Chr2:216420297 [GRCh38]
Chr2:217285020 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000820460]|not provided [RCV000681816] Chr2:216416281 [GRCh38]
Chr2:217281004 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.179A>C (p.Glu60Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000688239] Chr2:216414883 [GRCh38]
Chr2:217279606 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.565A>G (p.Lys189Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000689239] Chr2:216415269 [GRCh38]
Chr2:217279992 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000686205] Chr2:216415480 [GRCh38]
Chr2:217280203 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) deletion Schimke immuno-osseous dysplasia [RCV000700786] Chr2:216428638 [GRCh38]
Chr2:217293361 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1594C>T (p.Leu532Phe) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000700807] Chr2:216435446 [GRCh38]
Chr2:217300169 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2768G>A (p.Gly923Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000692404] Chr2:216482880 [GRCh38]
Chr2:217347603 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1317T>G (p.Phe439Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000688153] Chr2:216428765 [GRCh38]
Chr2:217293488 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000701211] Chr2:216475284 [GRCh38]
Chr2:217340007 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2428-1G>C single nucleotide variant not provided [RCV000722581] Chr2:216477108 [GRCh38]
Chr2:217341831 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1203C>T (p.Leu401=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001412289] Chr2:216428651 [GRCh38]
Chr2:217293374 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-274C>T single nucleotide variant not provided [RCV001691329] Chr2:216438146 [GRCh38]
Chr2:217302869 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.597T>C (p.Pro199=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001477367] Chr2:216415301 [GRCh38]
Chr2:217280024 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-153A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001543267]|not provided [RCV001655843] Chr2:216450693 [GRCh38]
Chr2:217315416 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2626-33C>T single nucleotide variant not provided [RCV001691772] Chr2:216482705 [GRCh38]
Chr2:217347428 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1485+288T>C single nucleotide variant not provided [RCV001534491] Chr2:216433156 [GRCh38]
Chr2:217297879 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001483889] Chr2:216415130 [GRCh38]
Chr2:217279853 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1831C>T (p.Arg611Cys) single nucleotide variant not provided [RCV003315044] Chr2:216447138 [GRCh38]
Chr2:217311861 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2626-268G>A single nucleotide variant not provided [RCV001569203] Chr2:216482470 [GRCh38]
Chr2:217347193 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1335-91G>A single nucleotide variant not provided [RCV001649201]|not specified [RCV003487594] Chr2:216432627 [GRCh38]
Chr2:217297350 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys) single nucleotide variant Inborn genetic diseases [RCV002552602]|Schimke immuno-osseous dysplasia [RCV001046698] Chr2:216415126 [GRCh38]
Chr2:217279849 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2071-296G>A single nucleotide variant not provided [RCV001641785] Chr2:216464301 [GRCh38]
Chr2:217329024 [GRCh37]
Chr2:2q35		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
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_014140.4(SMARCAL1):c.2626-191G>T single nucleotide variant not provided [RCV001644226] Chr2:216482547 [GRCh38]
Chr2:217347270 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1096+32A>C single nucleotide variant not provided [RCV001709281] Chr2:216420564 [GRCh38]
Chr2:217285287 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2529-153T>G single nucleotide variant not provided [RCV001645596] Chr2:216478050 [GRCh38]
Chr2:217342773 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2073A>G (p.Lys691=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001433679] Chr2:216464599 [GRCh38]
Chr2:217329322 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-6C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV000906818] Chr2:216435332 [GRCh38]
Chr2:217300055 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000982831] Chr2:216447068 [GRCh38]
Chr2:217311791 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000926905]|not provided [RCV003432921] Chr2:216450902 [GRCh38]
Chr2:217315625 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000943626] Chr2:216415430 [GRCh38]
Chr2:217280153 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000927087] Chr2:216415112 [GRCh38]
Chr2:217279835 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1863G>A (p.Gly621=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000944473] Chr2:216450857 [GRCh38]
Chr2:217315580 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.738T>C (p.Asp246=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001500636] Chr2:216415442 [GRCh38]
Chr2:217280165 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2754T>C (p.Ser918=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001462263] Chr2:216482866 [GRCh38]
Chr2:217347589 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001040438] Chr2:216415471 [GRCh38]
Chr2:217280194 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001034816] Chr2:216420302 [GRCh38]
Chr2:217285025 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2141+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001035735] Chr2:216464668 [GRCh38]
Chr2:217329391 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs) duplication Schimke immuno-osseous dysplasia [RCV001089943] Chr2:216414952..216414953 [GRCh38]
Chr2:217279675..217279676 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) single nucleotide variant Kidney disorder [RCV002294429]|Schimke immuno-osseous dysplasia [RCV000973816]|not provided [RCV004709008] Chr2:216435386 [GRCh38]
Chr2:217300109 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001139740] Chr2:216450938 [GRCh38]
Chr2:217315661 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000983772] Chr2:216414962 [GRCh38]
Chr2:217279685 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+8C>G single nucleotide variant not provided [RCV000905853] Chr2:216428790 [GRCh38]
Chr2:217293513 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000973902] Chr2:216414821 [GRCh38]
Chr2:217279544 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294430]|Schimke immuno-osseous dysplasia [RCV000973914] Chr2:216447083 [GRCh38]
Chr2:217311806 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000938393] Chr2:216482761 [GRCh38]
Chr2:217347484 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2141+10C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001446669] Chr2:216464677 [GRCh38]
Chr2:217329400 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000901378] Chr2:216450942 [GRCh38]
Chr2:217315665 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2245-5T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001402848] Chr2:216475264 [GRCh38]
Chr2:217339987 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000914846] Chr2:216432757 [GRCh38]
Chr2:217297480 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000980776] Chr2:216414773 [GRCh38]
Chr2:217279496 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001414494] Chr2:216478230 [GRCh38]
Chr2:217342953 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.690C>T (p.Val230=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001490640] Chr2:216415394 [GRCh38]
Chr2:217280117 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000899594] Chr2:216447092 [GRCh38]
Chr2:217311815 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000942608] Chr2:216414893 [GRCh38]
Chr2:217279616 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000895396] Chr2:216428744 [GRCh38]
Chr2:217293467 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000941056] Chr2:216432826 [GRCh38]
Chr2:217297549 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000942259]|not provided [RCV004808975] Chr2:216475388 [GRCh38]
Chr2:217340111 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.807T>C (p.Asn269=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001488945] Chr2:216415511 [GRCh38]
Chr2:217280234 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000939452] Chr2:216475271 [GRCh38]
Chr2:217339994 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) single nucleotide variant Focal segmental glomerulosclerosis [RCV004773137]|Inherited Immunodeficiency Diseases [RCV001027620]|SMARCAL1-related disorder [RCV003413568]|Schimke immuno-osseous dysplasia [RCV000778915]|not provided [RCV001592958] Chr2:216464640 [GRCh38]
Chr2:217329363 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) indel Schimke immuno-osseous dysplasia [RCV000779306] Chr2:216482770..216482771 [GRCh38]
Chr2:217347493..217347494 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000822517] Chr2:216420505 [GRCh38]
Chr2:217285228 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:217279767-217336105)x1 copy number loss not provided [RCV001005377] Chr2:217279767..217336105 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000794110] Chr2:216415192 [GRCh38]
Chr2:217279915 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) single nucleotide variant SMARCAL1-related disorder [RCV004751729]|Schimke immuno-osseous dysplasia [RCV000813941] Chr2:216420466 [GRCh38]
Chr2:217285189 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000801654] Chr2:216464667 [GRCh38]
Chr2:217329390 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1297G>A (p.Val433Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000808161] Chr2:216428745 [GRCh38]
Chr2:217293468 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.717A>G (p.Gly239=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001435054] Chr2:216415421 [GRCh38]
Chr2:217280144 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000937969] Chr2:216477177 [GRCh38]
Chr2:217341900 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs) microsatellite Schimke immuno-osseous dysplasia [RCV000991373] Chr2:216415069..216415070 [GRCh38]
Chr2:217279792..217279793 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.2600C>T (p.Thr867Ile) single nucleotide variant Inborn genetic diseases [RCV002537035]|Schimke immuno-osseous dysplasia [RCV000796943] Chr2:216478274 [GRCh38]
Chr2:217342997 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000799095]|not provided [RCV001311984] Chr2:216475425 [GRCh38]
Chr2:217340148 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1453G>T (p.Val485Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000820619] Chr2:216432836 [GRCh38]
Chr2:217297559 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000792973] Chr2:216450987 [GRCh38]
Chr2:217315710 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.12:g.(?_216414695)_(216416317_?)del deletion Schimke immuno-osseous dysplasia [RCV000807924] Chr2:216414695..216416317 [GRCh38]
Chr2:217279418..217281040 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2497G>A (p.Val833Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000804695] Chr2:216477178 [GRCh38]
Chr2:217341901 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs) duplication Schimke immuno-osseous dysplasia [RCV000804838] Chr2:216428695..216428696 [GRCh38]
Chr2:217293418..217293419 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000808602] Chr2:216435405 [GRCh38]
Chr2:217300128 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.12:g.(?_216416237)_(216416327_?)del deletion Schimke immuno-osseous dysplasia [RCV000795428] Chr2:216416237..216416327 [GRCh38]
Chr2:217280960..217281050 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.270_271del (p.His90fs) microsatellite Schimke immuno-osseous dysplasia [RCV000795753] Chr2:216414972..216414973 [GRCh38]
Chr2:217279695..217279696 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.734G>A (p.Gly245Asp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000805076] Chr2:216415438 [GRCh38]
Chr2:217280161 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1375G>A (p.Asp459Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000800856] Chr2:216432758 [GRCh38]
Chr2:217297481 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1467G>A (p.Val489=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002065857] Chr2:216432850 [GRCh38]
Chr2:217297573 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001242020] Chr2:216415149 [GRCh38]
Chr2:217279872 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs) deletion Schimke immuno-osseous dysplasia [RCV001205978] Chr2:216435355 [GRCh38]
Chr2:217300078 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) single nucleotide variant Inborn genetic diseases [RCV003246784]|Schimke immuno-osseous dysplasia [RCV001231726] Chr2:216415253 [GRCh38]
Chr2:217279976 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001209657] Chr2:216432785 [GRCh38]
Chr2:217297508 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) single nucleotide variant Inborn genetic diseases [RCV002563771]|Schimke immuno-osseous dysplasia [RCV001232045] Chr2:216475365 [GRCh38]
Chr2:217340088 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001241629] Chr2:216468045 [GRCh38]
Chr2:217332768 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001242582] Chr2:216478208 [GRCh38]
Chr2:217342931 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001238928] Chr2:216415428 [GRCh38]
Chr2:217280151 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001207503] Chr2:216438462 [GRCh38]
Chr2:217303185 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.3(SMARCAL1):c.-262C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001137419] Chr2:216412482 [GRCh38]
Chr2:217277205 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2699T>C (p.Leu900Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003106369] Chr2:216482811 [GRCh38]
Chr2:217347534 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2245-278A>C single nucleotide variant not provided [RCV001570752] Chr2:216474991 [GRCh38]
Chr2:217339714 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-56T>C single nucleotide variant not provided [RCV001686715] Chr2:216438364 [GRCh38]
Chr2:217303087 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.862+183G>A single nucleotide variant not provided [RCV001638606] Chr2:216416490 [GRCh38]
Chr2:217281213 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.811+194T>A single nucleotide variant not provided [RCV001555214] Chr2:216415709 [GRCh38]
Chr2:217280432 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-205A>C single nucleotide variant not provided [RCV001608428] Chr2:216450641 [GRCh38]
Chr2:217315364 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1645-246G>A single nucleotide variant not provided [RCV001550772] Chr2:216438174 [GRCh38]
Chr2:217302897 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-282G>T single nucleotide variant not provided [RCV001556504] Chr2:216428314 [GRCh38]
Chr2:217293037 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+198C>T single nucleotide variant not provided [RCV001669771] Chr2:216477407 [GRCh38]
Chr2:217342130 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1096+152A>G single nucleotide variant not provided [RCV001657356] Chr2:216420684 [GRCh38]
Chr2:217285407 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.811+156T>C single nucleotide variant not provided [RCV001716323] Chr2:216415671 [GRCh38]
Chr2:217280394 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.200A>C (p.His67Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002001706] Chr2:216414904 [GRCh38]
Chr2:217279627 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1645-132T>A single nucleotide variant not provided [RCV001587569] Chr2:216438288 [GRCh38]
Chr2:217303011 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2428-350G>T single nucleotide variant not provided [RCV001672167] Chr2:216476759 [GRCh38]
Chr2:217341482 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) single nucleotide variant SMARCAL1-related disorder [RCV003903087]|Schimke immuno-osseous dysplasia [RCV000931598] Chr2:216432823 [GRCh38]
Chr2:217297546 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000930416] Chr2:216478206 [GRCh38]
Chr2:217342929 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2472C>G (p.Thr824=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001471587] Chr2:216477153 [GRCh38]
Chr2:217341876 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.387T>C (p.Ser129=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001446207] Chr2:216415091 [GRCh38]
Chr2:217279814 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-10T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV000933370] Chr2:216438410 [GRCh38]
Chr2:217303133 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000977618] Chr2:216438476 [GRCh38]
Chr2:217303199 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-228C>A single nucleotide variant not provided [RCV001582153] Chr2:216420071 [GRCh38]
Chr2:217284794 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-4G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001140411] Chr2:216420295 [GRCh38]
Chr2:217285018 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001035294]|not provided [RCV002511018] Chr2:216475287 [GRCh38]
Chr2:217340010 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001244907] Chr2:216415083 [GRCh38]
Chr2:217279806 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001223616] Chr2:216414771 [GRCh38]
Chr2:217279494 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val) single nucleotide variant Inborn genetic diseases [RCV003294145]|Schimke immuno-osseous dysplasia [RCV001245584] Chr2:216435494 [GRCh38]
Chr2:217300217 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) single nucleotide variant Inborn genetic diseases [RCV004032720]|Schimke immuno-osseous dysplasia [RCV001142273] Chr2:216420397 [GRCh38]
Chr2:217285120 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001248668] Chr2:216420324 [GRCh38]
Chr2:217285047 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn) single nucleotide variant Inborn genetic diseases [RCV002563898]|Schimke immuno-osseous dysplasia [RCV001237665] Chr2:216435474 [GRCh38]
Chr2:217300197 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001218003] Chr2:216438474 [GRCh38]
Chr2:217303197 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV000933988] Chr2:216432743 [GRCh38]
Chr2:217297466 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+35C>T single nucleotide variant not provided [RCV001530704] Chr2:216477244 [GRCh38]
Chr2:217341967 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+55A>C single nucleotide variant not provided [RCV001562424] Chr2:216464722 [GRCh38]
Chr2:217329445 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+274G>A single nucleotide variant not provided [RCV001562540] Chr2:216429056 [GRCh38]
Chr2:217293779 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+53_2141+54insC insertion not provided [RCV001578022] Chr2:216464720..216464721 [GRCh38]
Chr2:217329443..217329444 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2428-95G>A single nucleotide variant not provided [RCV001637615] Chr2:216477014 [GRCh38]
Chr2:217341737 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1096+28C>A single nucleotide variant not provided [RCV001552748] Chr2:216420560 [GRCh38]
Chr2:217285283 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.862+128del deletion not provided [RCV001665120]|not specified [RCV003487624] Chr2:216416428 [GRCh38]
Chr2:217281151 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.812-156T>C single nucleotide variant not provided [RCV001640903] Chr2:216416101 [GRCh38]
Chr2:217280824 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.216370024_216479573inv inversion Schimke immuno-osseous dysplasia [RCV002260422] Chr2:216370024..216479573 [GRCh38]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2070+43A>T single nucleotide variant not provided [RCV001636206] Chr2:216451107 [GRCh38]
Chr2:217315830 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.812-104T>C single nucleotide variant not provided [RCV001720438]|not specified [RCV003487768] Chr2:216416153 [GRCh38]
Chr2:217280876 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.-58-210G>A single nucleotide variant not provided [RCV001659404] Chr2:216414437 [GRCh38]
Chr2:217279160 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2625+116dup duplication not provided [RCV001617281] Chr2:216478413..216478414 [GRCh38]
Chr2:217343136..217343137 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.811+38del deletion Schimke immuno-osseous dysplasia [RCV001810207]|not provided [RCV001673795] Chr2:216415539 [GRCh38]
Chr2:217280262 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.-58-254G>A single nucleotide variant not provided [RCV001710743] Chr2:216414393 [GRCh38]
Chr2:217279116 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.811+37_811+38del deletion not provided [RCV001598725]|not specified [RCV003487498] Chr2:216415539..216415540 [GRCh38]
Chr2:217280262..217280263 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1711-283C>A single nucleotide variant not provided [RCV001638284] Chr2:216446735 [GRCh38]
Chr2:217311458 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.216483194T>C single nucleotide variant not provided [RCV001720424] Chr2:216483194 [GRCh38]
Chr2:217347917 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001140409] Chr2:216415397 [GRCh38]
Chr2:217280120 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001139741] Chr2:216475319 [GRCh38]
Chr2:217340042 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001140408] Chr2:216415236 [GRCh38]
Chr2:217279959 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1711-80C>T single nucleotide variant not provided [RCV001585326] Chr2:216446938 [GRCh38]
Chr2:217311661 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001035074] Chr2:216435404 [GRCh38]
Chr2:217300127 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2071-136T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001543300]|not provided [RCV001647387] Chr2:216464461 [GRCh38]
Chr2:217329184 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2528+68T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001543301]|not provided [RCV001658269]|not specified [RCV003487463] Chr2:216477277 [GRCh38]
Chr2:217342000 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1851+293T>G single nucleotide variant not provided [RCV001689477] Chr2:216447451 [GRCh38]
Chr2:217312174 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2141+56dup duplication not provided [RCV001709247] Chr2:216464709..216464710 [GRCh38]
Chr2:217329432..217329433 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1335-23A>G single nucleotide variant not provided [RCV001695088] Chr2:216432695 [GRCh38]
Chr2:217297418 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1146_1147+2del deletion Inherited Immunodeficiency Diseases [RCV001027619]|Schimke immuno-osseous dysplasia [RCV001862410] Chr2:216423681..216423684 [GRCh38]
Chr2:217288404..217288407 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001042702] Chr2:216415381 [GRCh38]
Chr2:217280104 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001206554] Chr2:216464609 [GRCh38]
Chr2:217329332 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1210del (p.Ala404fs) deletion Schimke immuno-osseous dysplasia [RCV001205385] Chr2:216428657 [GRCh38]
Chr2:217293380 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.3(SMARCAL1):c.-316T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001142157] Chr2:216412428 [GRCh38]
Chr2:217277151 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001204167] Chr2:216415068 [GRCh38]
Chr2:217279791 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001203760] Chr2:216414940 [GRCh38]
Chr2:217279663 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1644+1G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001054627] Chr2:216435497 [GRCh38]
Chr2:217300220 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) single nucleotide variant Inborn genetic diseases [RCV004031727]|Schimke immuno-osseous dysplasia [RCV001054736] Chr2:216475413 [GRCh38]
Chr2:217340136 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1934_1935del (p.Arg645fs) microsatellite Schimke immuno-osseous dysplasia [RCV001205193] Chr2:216450926..216450927 [GRCh38]
Chr2:217315649..217315650 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001140520] Chr2:216475340 [GRCh38]
Chr2:217340063 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001048517] Chr2:216420467 [GRCh38]
Chr2:217285190 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001059601] Chr2:216432822 [GRCh38]
Chr2:217297545 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027621]|Schimke immuno-osseous dysplasia [RCV001040718]|not provided [RCV001269553] Chr2:216477140 [GRCh38]
Chr2:217341863 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001140410] Chr2:216415452 [GRCh38]
Chr2:217280175 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.3(SMARCAL1):c.-300G>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001137418] Chr2:216412444 [GRCh38]
Chr2:217277167 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001142274] Chr2:216428608 [GRCh38]
Chr2:217293331 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs) duplication Schimke immuno-osseous dysplasia [RCV001210892] Chr2:216415033..216415034 [GRCh38]
Chr2:217279756..217279757 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001041723] Chr2:216432852 [GRCh38]
Chr2:217297575 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.786dup (p.Lys263Ter) duplication Schimke immuno-osseous dysplasia [RCV001062876] Chr2:216415487..216415488 [GRCh38]
Chr2:217280210..217280211 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001063072] Chr2:216475449 [GRCh38]
Chr2:217340172 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001216644] Chr2:216447043 [GRCh38]
Chr2:217311766 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
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
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277351] Chr2:216450996 [GRCh38]
Chr2:217315719 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2849T>G (p.Phe950Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277353] Chr2:216482961 [GRCh38]
Chr2:217347684 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502592]|not provided [RCV001255431] Chr2:216435351 [GRCh38]
Chr2:217300074 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.811+6G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001313967] Chr2:216415521 [GRCh38]
Chr2:217280244 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.92A>G (p.Glu31Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001304725] Chr2:216414796 [GRCh38]
Chr2:217279519 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.841A>G (p.Met281Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001300791] Chr2:216416286 [GRCh38]
Chr2:217281009 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001338552] Chr2:216477193 [GRCh38]
Chr2:217341916 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) single nucleotide variant Inborn genetic diseases [RCV004036213]|Schimke immuno-osseous dysplasia [RCV001301608]|not provided [RCV004692446] Chr2:216482762 [GRCh38]
Chr2:217347485 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2245C>T (p.His749Tyr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001340291] Chr2:216475269 [GRCh38]
Chr2:217339992 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val) single nucleotide variant Inborn genetic diseases [RCV002543627]|Schimke immuno-osseous dysplasia [RCV001313412] Chr2:216447057 [GRCh38]
Chr2:217311780 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2439G>A (p.Gln813=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001414954] Chr2:216477120 [GRCh38]
Chr2:217341843 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001337772] Chr2:216416272 [GRCh38]
Chr2:217280995 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2481G>A (p.Val827=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001423021] Chr2:216477162 [GRCh38]
Chr2:217341885 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2217C>T (p.Asp739=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001434136] Chr2:216468019 [GRCh38]
Chr2:217332742 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1027_1034del (p.Phe343fs) deletion Schimke immuno-osseous dysplasia [RCV001374719] Chr2:216420462..216420469 [GRCh38]
Chr2:217285185..217285192 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2403T>C (p.Phe801=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001396946] Chr2:216475427 [GRCh38]
Chr2:217340150 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001280866] Chr2:216450924 [GRCh38]
Chr2:217315647 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.1985T>C (p.Val662Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277350] Chr2:216450979 [GRCh38]
Chr2:217315702 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.510A>G (p.Pro170=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001433439] Chr2:216415214 [GRCh38]
Chr2:217279937 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1442T>C (p.Leu481Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001369834] Chr2:216432825 [GRCh38]
Chr2:217297548 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1642_1644del (p.Ile548del) deletion Schimke immuno-osseous dysplasia [RCV001369562] Chr2:216435494..216435496 [GRCh38]
Chr2:217300217..217300219 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) deletion Schimke immuno-osseous dysplasia [RCV001369967] Chr2:216482756..216482758 [GRCh38]
Chr2:217347479..217347481 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1572C>T (p.Ile524=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001433271] Chr2:216435424 [GRCh38]
Chr2:217300147 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.811+8C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001433468] Chr2:216415523 [GRCh38]
Chr2:217280246 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1097-10G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001392062] Chr2:216423623 [GRCh38]
Chr2:217288346 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) deletion Atypical hemolytic-uremic syndrome [RCV001328269] Chr2:216467993 [GRCh38]
Chr2:217332716 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.687A>C (p.Ser229=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001414661] Chr2:216415391 [GRCh38]
Chr2:217280114 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-9G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001433787] Chr2:216447009 [GRCh38]
Chr2:217311732 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1433A>G (p.Glu478Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001361062] Chr2:216432816 [GRCh38]
Chr2:217297539 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) single nucleotide variant SMARCAL1-related disorder [RCV004751960]|Schimke immuno-osseous dysplasia [RCV001336147]|not provided [RCV004719137] Chr2:216477131 [GRCh38]
Chr2:217341854 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_014140.4(SMARCAL1):c.755T>C (p.Ile252Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001336148] Chr2:216415459 [GRCh38]
Chr2:217280182 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001318532] Chr2:216415486 [GRCh38]
Chr2:217280209 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1369G>A (p.Ala457Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001300013] Chr2:216432752 [GRCh38]
Chr2:217297475 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) single nucleotide variant Inborn genetic diseases [RCV002543177]|Schimke immuno-osseous dysplasia [RCV001306752] Chr2:216415152 [GRCh38]
Chr2:217279875 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_014140.4(SMARCAL1):c.2738G>A (p.Gly913Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277352] Chr2:216482850 [GRCh38]
Chr2:217347573 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2837A>C (p.Asn946Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001347226] Chr2:216482949 [GRCh38]
Chr2:217347672 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001372369] Chr2:216415257 [GRCh38]
Chr2:217279980 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001279833] Chr2:216415484 [GRCh38]
Chr2:217280207 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001363352] Chr2:216432851 [GRCh38]
Chr2:217297574 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001327880] Chr2:216447069 [GRCh38]
Chr2:217311792 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001344419] Chr2:216414925 [GRCh38]
Chr2:217279648 [GRCh37]
Chr2:2q35		 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_014140.4(SMARCAL1):c.2764A>G (p.Met922Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001321139] Chr2:216482876 [GRCh38]
Chr2:217347599 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001363732] Chr2:216475380 [GRCh38]
Chr2:217340103 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2161C>T (p.Leu721=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001421810] Chr2:216467963 [GRCh38]
Chr2:217332686 [GRCh37]
Chr2:2q35		 likely benign
NM_001127207.2:c.(1147+1_1148-1)_(1334+1_1335-1)del deletion Schimke immuno-osseous dysplasia [RCV001281343]   pathogenic
NM_014140.4(SMARCAL1):c.1488C>T (p.Ala496=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277347] Chr2:216435340 [GRCh38]
Chr2:217300063 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277348] Chr2:216447082 [GRCh38]
Chr2:217311805 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1850G>T (p.Arg617Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001277349] Chr2:216447157 [GRCh38]
Chr2:217311880 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001367702] Chr2:216414813 [GRCh38]
Chr2:217279536 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.603G>A (p.Gly201=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001396220] Chr2:216415307 [GRCh38]
Chr2:217280030 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.192A>C (p.Pro64=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001412806] Chr2:216414896 [GRCh38]
Chr2:217279619 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001337400] Chr2:216414772 [GRCh38]
Chr2:217279495 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV001328268]|Schimke immuno-osseous dysplasia [RCV001305151] Chr2:216450969 [GRCh38]
Chr2:217315692 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2409G>A (p.Glu803=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001421365] Chr2:216475433 [GRCh38]
Chr2:217340156 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2626-4G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001454354] Chr2:216482734 [GRCh38]
Chr2:217347457 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.666C>T (p.Leu222=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001460976] Chr2:216415370 [GRCh38]
Chr2:217280093 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2682A>G (p.Gly894=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001457140] Chr2:216482794 [GRCh38]
Chr2:217347517 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.114G>A (p.Ser38=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001453802] Chr2:216414818 [GRCh38]
Chr2:217279541 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-19G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001487439] Chr2:216420280 [GRCh38]
Chr2:217285003 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.693A>G (p.Gln231=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001399491] Chr2:216415397 [GRCh38]
Chr2:217280120 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1788A>T (p.Ala596=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001502980] Chr2:216447095 [GRCh38]
Chr2:217311818 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1794G>A (p.Lys598=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001430754] Chr2:216447101 [GRCh38]
Chr2:217311824 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2208G>C (p.Val736=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001467439] Chr2:216468010 [GRCh38]
Chr2:217332733 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1497G>A (p.Arg499=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001484969] Chr2:216435349 [GRCh38]
Chr2:217300072 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1000C>A (p.Arg334=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001484971] Chr2:216420436 [GRCh38]
Chr2:217285159 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001455673] Chr2:216482965 [GRCh38]
Chr2:217347688 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-6T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001496550] Chr2:216420293 [GRCh38]
Chr2:217285016 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1125C>G (p.Leu375=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001463072] Chr2:216423661 [GRCh38]
Chr2:217288384 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1158G>A (p.Val386=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001479326] Chr2:216428606 [GRCh38]
Chr2:217293329 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2568C>T (p.Ala856=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001462156] Chr2:216478242 [GRCh38]
Chr2:217342965 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) single nucleotide variant SMARCAL1-related disorder [RCV003980549]|Schimke immuno-osseous dysplasia [RCV001516786] Chr2:216414828 [GRCh38]
Chr2:217279551 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.2133A>G (p.Pro711=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001505664] Chr2:216464659 [GRCh38]
Chr2:217329382 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.156C>A (p.Gly52=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001463390] Chr2:216414860 [GRCh38]
Chr2:217279583 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2511A>G (p.Thr837=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001466513] Chr2:216477192 [GRCh38]
Chr2:217341915 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.108T>C (p.Thr36=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001489416] Chr2:216414812 [GRCh38]
Chr2:217279535 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.885C>A (p.Pro295=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001484336] Chr2:216420321 [GRCh38]
Chr2:217285044 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1097-14T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001403611] Chr2:216423619 [GRCh38]
Chr2:217288342 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2427+10G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001480611] Chr2:216475461 [GRCh38]
Chr2:217340184 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.270C>T (p.His90=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001521816] Chr2:216414974 [GRCh38]
Chr2:217279697 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_014140.4(SMARCAL1):c.1218T>A (p.Ala406=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001498180] Chr2:216428666 [GRCh38]
Chr2:217293389 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.609del (p.Asn203fs) deletion Schimke immuno-osseous dysplasia [RCV001384141] Chr2:216415313 [GRCh38]
Chr2:217280036 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2406T>C (p.Ala802=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001489919] Chr2:216475430 [GRCh38]
Chr2:217340153 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.111C>T (p.Ser37=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001474831] Chr2:216414815 [GRCh38]
Chr2:217279538 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1557G>A (p.Leu519=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001492025] Chr2:216435409 [GRCh38]
Chr2:217300132 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2070+9A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001435067] Chr2:216451073 [GRCh38]
Chr2:217315796 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1314C>T (p.Pro438=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001481968] Chr2:216428762 [GRCh38]
Chr2:217293485 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.720G>A (p.Lys240=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001429882] Chr2:216415424 [GRCh38]
Chr2:217280147 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2715C>T (p.Ser905=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001404362] Chr2:216482827 [GRCh38]
Chr2:217347550 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2529-5A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001406690] Chr2:216478198 [GRCh38]
Chr2:217342921 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1905C>T (p.Leu635=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001445927] Chr2:216450899 [GRCh38]
Chr2:217315622 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001446223] Chr2:216482899 [GRCh38]
Chr2:217347622 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.762C>T (p.Tyr254=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001411950] Chr2:216415466 [GRCh38]
Chr2:217280189 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-2A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001377657] Chr2:216438418 [GRCh38]
Chr2:217303141 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs) deletion Schimke immuno-osseous dysplasia [RCV001386133]|See cases [RCV002252678] Chr2:216428639 [GRCh38]
Chr2:217293362 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1200T>C (p.Thr400=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001439576] Chr2:216428648 [GRCh38]
Chr2:217293371 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1189C>T (p.Leu397=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001407057] Chr2:216428637 [GRCh38]
Chr2:217293360 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1203C>A (p.Leu401=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001448879] Chr2:216428651 [GRCh38]
Chr2:217293374 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.641dup (p.Thr215fs) duplication Schimke immuno-osseous dysplasia [RCV001387391] Chr2:216415344..216415345 [GRCh38]
Chr2:217280067..217280068 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2245-10G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001444142] Chr2:216475259 [GRCh38]
Chr2:217339982 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2454G>A (p.Val818=) single nucleotide variant SMARCAL1-related disorder [RCV003900525]|Schimke immuno-osseous dysplasia [RCV001444193] Chr2:216477135 [GRCh38]
Chr2:217341858 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1263dup (p.Glu422fs) duplication Schimke immuno-osseous dysplasia [RCV001380885] Chr2:216428710..216428711 [GRCh38]
Chr2:217293433..217293434 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.499C>T (p.Leu167=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001410240] Chr2:216415203 [GRCh38]
Chr2:217279926 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.609C>T (p.Asn203=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001447154] Chr2:216415313 [GRCh38]
Chr2:217280036 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2304C>T (p.Cys768=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001419060] Chr2:216475328 [GRCh38]
Chr2:217340051 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001386132] Chr2:216420436 [GRCh38]
Chr2:217285159 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2343G>T (p.Val781=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001403121] Chr2:216475367 [GRCh38]
Chr2:217340090 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.330C>A (p.Gly110=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001426846] Chr2:216415034 [GRCh38]
Chr2:217279757 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1878T>C (p.Gly626=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001415594] Chr2:216450872 [GRCh38]
Chr2:217315595 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1371T>C (p.Ala457=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001403519] Chr2:216432754 [GRCh38]
Chr2:217297477 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-132G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001543265]|not provided [RCV001655842] Chr2:216446886 [GRCh38]
Chr2:217311609 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1711-111G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001543266]|not provided [RCV001673161] Chr2:216446907 [GRCh38]
Chr2:217311630 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.432T>C (p.Gly144=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001429420] Chr2:216415136 [GRCh38]
Chr2:217279859 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1544_1569del (p.Gly515fs) deletion Schimke immuno-osseous dysplasia [RCV001380684] Chr2:216435393..216435418 [GRCh38]
Chr2:217300116..217300141 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1278T>A (p.Ser426=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001419482] Chr2:216428726 [GRCh38]
Chr2:217293449 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1857T>C (p.Pro619=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001445456] Chr2:216450851 [GRCh38]
Chr2:217315574 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1065G>A (p.Ala355=) single nucleotide variant SMARCAL1-related disorder [RCV003946127]|Schimke immuno-osseous dysplasia [RCV001429599] Chr2:216420501 [GRCh38]
Chr2:217285224 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_217285012)_(217315797_?)dup duplication Schimke immuno-osseous dysplasia [RCV001377403] Chr2:217285012..217315797 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.279G>A (p.Gln93=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001448153] Chr2:216414983 [GRCh38]
Chr2:217279706 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2406T>G (p.Ala802=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001406612] Chr2:216475430 [GRCh38]
Chr2:217340153 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2244+10C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001408974] Chr2:216468056 [GRCh38]
Chr2:217332779 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.669G>A (p.Gln223=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001435596] Chr2:216415373 [GRCh38]
Chr2:217280096 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2424del (p.Val810fs) deletion Schimke immuno-osseous dysplasia [RCV001382139] Chr2:216475448 [GRCh38]
Chr2:217340171 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.828G>T (p.Thr276=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001472535] Chr2:216416273 [GRCh38]
Chr2:217280996 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.546A>G (p.Gly182=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001473055] Chr2:216415250 [GRCh38]
Chr2:217279973 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.811+36_811+38del deletion not provided [RCV001614909] Chr2:216415539..216415541 [GRCh38]
Chr2:217280262..217280264 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1677T>G (p.Thr559=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001479235] Chr2:216438452 [GRCh38]
Chr2:217303175 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-106C>T single nucleotide variant not provided [RCV001684246] Chr2:216446912 [GRCh38]
Chr2:217311635 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2343G>A (p.Val781=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001495982] Chr2:216475367 [GRCh38]
Chr2:217340090 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2355C>T (p.Thr785=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001473719] Chr2:216475379 [GRCh38]
Chr2:217340102 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1761C>G (p.Pro587=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001458872] Chr2:216447068 [GRCh38]
Chr2:217311791 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2031G>A (p.Leu677=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001499755] Chr2:216451025 [GRCh38]
Chr2:217315748 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+131A>G single nucleotide variant not provided [RCV001687789] Chr2:216477340 [GRCh38]
Chr2:217342063 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2428-8A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001483088] Chr2:216477101 [GRCh38]
Chr2:217341824 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.939C>T (p.Ser313=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001462702] Chr2:216420375 [GRCh38]
Chr2:217285098 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2265C>T (p.Ile755=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001480006] Chr2:216475289 [GRCh38]
Chr2:217340012 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1011C>T (p.Leu337=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001476984] Chr2:216420447 [GRCh38]
Chr2:217285170 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.636G>A (p.Glu212=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001496913] Chr2:216415340 [GRCh38]
Chr2:217280063 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-119C>T single nucleotide variant not provided [RCV001696083] Chr2:216446899 [GRCh38]
Chr2:217311622 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.863-228C>T single nucleotide variant not provided [RCV001586785] Chr2:216420071 [GRCh38]
Chr2:217284794 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2232G>A (p.Glu744=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001480167] Chr2:216468034 [GRCh38]
Chr2:217332757 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1368C>T (p.Leu456=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001452709] Chr2:216432751 [GRCh38]
Chr2:217297474 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+36G>A single nucleotide variant not provided [RCV001591523] Chr2:216477245 [GRCh38]
Chr2:217341968 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-4T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001484109] Chr2:216428592 [GRCh38]
Chr2:217293315 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1626T>G (p.Pro542=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001501205] Chr2:216435478 [GRCh38]
Chr2:217300201 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2226G>T (p.Thr742=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001477734] Chr2:216468028 [GRCh38]
Chr2:217332751 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1710+256C>T single nucleotide variant not provided [RCV001589736] Chr2:216438741 [GRCh38]
Chr2:217303464 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-89G>A single nucleotide variant not provided [RCV001714162] Chr2:216416168 [GRCh38]
Chr2:217280891 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2070+280G>A single nucleotide variant not provided [RCV001540083] Chr2:216451344 [GRCh38]
Chr2:217316067 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-39C>G single nucleotide variant not provided [RCV001654521] Chr2:216420260 [GRCh38]
Chr2:217284983 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2028C>T (p.Ala676=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001505634] Chr2:216451022 [GRCh38]
Chr2:217315745 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.862+10C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001453803] Chr2:216416317 [GRCh38]
Chr2:217281040 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-8T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001435612] Chr2:216416249 [GRCh38]
Chr2:217280972 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-9G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001416930] Chr2:216447009 [GRCh38]
Chr2:217311732 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001387850] Chr2:216415113 [GRCh38]
Chr2:217279836 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.732C>T (p.Asn244=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001468957] Chr2:216415436 [GRCh38]
Chr2:217280159 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+7_2528+15del deletion Schimke immuno-osseous dysplasia [RCV001490333] Chr2:216477213..216477221 [GRCh38]
Chr2:217341936..217341944 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1851+8T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001439596] Chr2:216447166 [GRCh38]
Chr2:217311889 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.771A>G (p.Glu257=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001458341] Chr2:216415475 [GRCh38]
Chr2:217280198 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.87G>A (p.Leu29=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001442465] Chr2:216414791 [GRCh38]
Chr2:217279514 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.645G>A (p.Thr215=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001498053] Chr2:216415349 [GRCh38]
Chr2:217280072 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001473868] Chr2:216428747 [GRCh38]
Chr2:217293470 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2148T>C (p.Tyr716=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001477931] Chr2:216467950 [GRCh38]
Chr2:217332673 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.333C>T (p.His111=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001506933] Chr2:216415037 [GRCh38]
Chr2:217279760 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.786T>C (p.Phe262=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001497451] Chr2:216415490 [GRCh38]
Chr2:217280213 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.723C>T (p.Cys241=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001458790] Chr2:216415427 [GRCh38]
Chr2:217280150 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1887C>T (p.Asn629=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001477609] Chr2:216450881 [GRCh38]
Chr2:217315604 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2301G>A (p.Leu767=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001478861] Chr2:216475325 [GRCh38]
Chr2:217340048 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2526T>A (p.Leu842=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001466001] Chr2:216477207 [GRCh38]
Chr2:217341930 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+7G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001478399] Chr2:216464674 [GRCh38]
Chr2:217329397 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.969A>G (p.Pro323=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001399854] Chr2:216420405 [GRCh38]
Chr2:217285128 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1290C>G (p.Pro430=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001460700] Chr2:216428738 [GRCh38]
Chr2:217293461 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2844C>T (p.Asp948=) single nucleotide variant SMARCAL1-related disorder [RCV003946142]|Schimke immuno-osseous dysplasia [RCV001436476] Chr2:216482956 [GRCh38]
Chr2:217347679 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2427+10G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001438102] Chr2:216475461 [GRCh38]
Chr2:217340184 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001406903] Chr2:216435385 [GRCh38]
Chr2:217300108 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1758G>C (p.Arg586=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001418105] Chr2:216447065 [GRCh38]
Chr2:217311788 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2679A>G (p.Glu893=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001437049] Chr2:216482791 [GRCh38]
Chr2:217347514 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1206C>T (p.Thr402=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001476689] Chr2:216428654 [GRCh38]
Chr2:217293377 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2106C>T (p.Phe702=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001480728] Chr2:216464632 [GRCh38]
Chr2:217329355 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1131A>G (p.Glu377=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001418179] Chr2:216423667 [GRCh38]
Chr2:217288390 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2070+2dup duplication Schimke immuno-osseous dysplasia [RCV001386134]|not provided [RCV001729911] Chr2:216451065..216451066 [GRCh38]
Chr2:217315788..217315789 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.186T>C (p.Cys62=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001427687] Chr2:216414890 [GRCh38]
Chr2:217279613 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2245-4G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001400694] Chr2:216475265 [GRCh38]
Chr2:217339988 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.811+10T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV001505548] Chr2:216415525 [GRCh38]
Chr2:217280248 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.777T>C (p.Ile259=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001438685] Chr2:216415481 [GRCh38]
Chr2:217280204 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1755C>G (p.Ser585=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001468138] Chr2:216447062 [GRCh38]
Chr2:217311785 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_217311731)_(217311891_?)del deletion Schimke immuno-osseous dysplasia [RCV001377402] Chr2:217311731..217311891 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1530C>T (p.Asn510=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001393756] Chr2:216435382 [GRCh38]
Chr2:217300105 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2478C>T (p.Ser826=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001398817] Chr2:216477159 [GRCh38]
Chr2:217341882 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1653T>C (p.Ser551=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001424493] Chr2:216438428 [GRCh38]
Chr2:217303151 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1464C>T (p.Ser488=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001504203] Chr2:216432847 [GRCh38]
Chr2:217297570 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2451C>T (p.Arg817=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001472066] Chr2:216477132 [GRCh38]
Chr2:217341855 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1971G>A (p.Lys657=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001435223] Chr2:216450965 [GRCh38]
Chr2:217315688 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2175A>G (p.Arg725=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001435250] Chr2:216467977 [GRCh38]
Chr2:217332700 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1941G>A (p.Lys647=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001405188] Chr2:216450935 [GRCh38]
Chr2:217315658 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1722G>A (p.Arg574=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001416666] Chr2:216447029 [GRCh38]
Chr2:217311752 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1517del (p.Pro506fs) deletion Schimke immuno-osseous dysplasia [RCV001380762] Chr2:216435367 [GRCh38]
Chr2:217300090 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1510C>T (p.Leu504=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001458023] Chr2:216435362 [GRCh38]
Chr2:217300085 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.811+103A>G single nucleotide variant not provided [RCV001733135] Chr2:216415618 [GRCh38]
Chr2:217280341 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.996del (p.Arg334fs) deletion Schimke immuno-osseous dysplasia [RCV002240144] Chr2:216420430 [GRCh38]
Chr2:217285153 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001783781] Chr2:216450928 [GRCh38]
Chr2:217315651 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.884C>T (p.Pro295Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002540421]|not provided [RCV001758782] Chr2:216420320 [GRCh38]
Chr2:217285043 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1688G>A (p.Arg563Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001874301] Chr2:216438463 [GRCh38]
Chr2:217303186 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.763A>G (p.Asn255Asp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002005947] Chr2:216415467 [GRCh38]
Chr2:217280190 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NM_014140.4(SMARCAL1):c.1855C>T (p.Pro619Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001948816] Chr2:216450849 [GRCh38]
Chr2:217315572 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1325C>G (p.Ala442Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002045117] Chr2:216428773 [GRCh38]
Chr2:217293496 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.119C>T (p.Thr40Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002007653] Chr2:216414823 [GRCh38]
Chr2:217279546 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1465G>A (p.Val489Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001913790] Chr2:216432848 [GRCh38]
Chr2:217297571 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) single nucleotide variant Nephrotic syndrome [RCV001849881]|Schimke immuno-osseous dysplasia [RCV004587222] Chr2:216450934 [GRCh38]
Chr2:217315657 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.2644A>G (p.Ile882Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001913926] Chr2:216482756 [GRCh38]
Chr2:217347479 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.714G>C (p.Lys238Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001964708] Chr2:216415418 [GRCh38]
Chr2:217280141 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.199C>A (p.His67Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001914489] Chr2:216414903 [GRCh38]
Chr2:217279626 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2507del (p.Gly836fs) deletion Schimke immuno-osseous dysplasia [RCV001864203] Chr2:216477186 [GRCh38]
Chr2:217341909 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2332G>A (p.Ala778Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001948280] Chr2:216475356 [GRCh38]
Chr2:217340079 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1931G>A (p.Arg644Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001949297] Chr2:216450925 [GRCh38]
Chr2:217315648 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.764A>G (p.Asn255Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001890827] Chr2:216415468 [GRCh38]
Chr2:217280191 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1076A>G (p.Gln359Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001967624] Chr2:216420512 [GRCh38]
Chr2:217285235 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2266G>A (p.Asp756Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001945155] Chr2:216475290 [GRCh38]
Chr2:217340013 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.296A>G (p.Lys99Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002042296] Chr2:216415000 [GRCh38]
Chr2:217279723 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.454C>T (p.Pro152Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002041910] Chr2:216415158 [GRCh38]
Chr2:217279881 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.59C>G (p.Ala20Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001912989] Chr2:216414763 [GRCh38]
Chr2:217279486 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.761A>C (p.Tyr254Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001945525] Chr2:216415465 [GRCh38]
Chr2:217280188 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu) single nucleotide variant Nephrotic syndrome [RCV001849880] Chr2:216447129 [GRCh38]
Chr2:217311852 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.863-17TTC[2] microsatellite Schimke immuno-osseous dysplasia [RCV002003515] Chr2:216420282..216420284 [GRCh38]
Chr2:217285005..217285007 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.378G>A (p.Leu126=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002021621] Chr2:216415082 [GRCh38]
Chr2:217279805 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2428-17A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001946987] Chr2:216477092 [GRCh38]
Chr2:217341815 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter) single nucleotide variant Nephrotic syndrome [RCV001849878] Chr2:216447043 [GRCh38]
Chr2:217311766 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2625+1G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001892207] Chr2:216478300 [GRCh38]
Chr2:217343023 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2248G>A (p.Val750Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001984506] Chr2:216475272 [GRCh38]
Chr2:217339995 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.614C>T (p.Ser205Phe) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002042584] Chr2:216415318 [GRCh38]
Chr2:217280041 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.416T>A (p.Leu139Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001928145] Chr2:216415120 [GRCh38]
Chr2:217279843 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.733G>A (p.Gly245Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002041320] Chr2:216415437 [GRCh38]
Chr2:217280160 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.622del (p.His208fs) deletion Schimke immuno-osseous dysplasia [RCV001909776] Chr2:216415325 [GRCh38]
Chr2:217280048 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.251A>G (p.Gln84Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001948447] Chr2:216414955 [GRCh38]
Chr2:217279678 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1625del (p.Pro542fs) deletion Schimke immuno-osseous dysplasia [RCV001949493] Chr2:216435474 [GRCh38]
Chr2:217300197 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1723G>A (p.Val575Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001891400] Chr2:216447030 [GRCh38]
Chr2:217311753 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.148A>G (p.Lys50Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001947207] Chr2:216414852 [GRCh38]
Chr2:217279575 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1327G>C (p.Gly443Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001872229] Chr2:216428775 [GRCh38]
Chr2:217293498 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.5C>T (p.Ser2Phe) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002002340] Chr2:216414709 [GRCh38]
Chr2:217279432 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001908777] Chr2:216414897 [GRCh38]
Chr2:217279620 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1028T>C (p.Phe343Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001985881] Chr2:216420464 [GRCh38]
Chr2:217285187 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.668A>C (p.Gln223Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002020493] Chr2:216415372 [GRCh38]
Chr2:217280095 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2810A>G (p.Lys937Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002043245] Chr2:216482922 [GRCh38]
Chr2:217347645 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1426del (p.Arg476fs) deletion Schimke immuno-osseous dysplasia [RCV001962355] Chr2:216432808 [GRCh38]
Chr2:217297531 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.982C>T (p.Leu328Phe) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001962365]|not provided [RCV004793628] Chr2:216420418 [GRCh38]
Chr2:217285141 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1602G>T (p.Lys534Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001924202] Chr2:216435454 [GRCh38]
Chr2:217300177 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001903510]|not provided [RCV003481180] Chr2:216450854 [GRCh38]
Chr2:217315577 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2244+17A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV001888584] Chr2:216468063 [GRCh38]
Chr2:217332786 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1810dup (p.Gln604fs) duplication Schimke immuno-osseous dysplasia [RCV001999806] Chr2:216447112..216447113 [GRCh38]
Chr2:217311835..217311836 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.674A>G (p.Lys225Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001886840] Chr2:216415378 [GRCh38]
Chr2:217280101 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1411A>G (p.Ile471Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001996600] Chr2:216432794 [GRCh38]
Chr2:217297517 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1996C>T (p.Pro666Ser) single nucleotide variant Inborn genetic diseases [RCV003247089]|Schimke immuno-osseous dysplasia [RCV001883431] Chr2:216450990 [GRCh38]
Chr2:217315713 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.701T>G (p.Val234Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001997871] Chr2:216415405 [GRCh38]
Chr2:217280128 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2662_2664del (p.Lys888del) deletion Schimke immuno-osseous dysplasia [RCV002026218] Chr2:216482772..216482774 [GRCh38]
Chr2:217347495..217347497 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1632del (p.Val545fs) deletion Schimke immuno-osseous dysplasia [RCV001864978] Chr2:216435482 [GRCh38]
Chr2:217300205 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1859G>A (p.Trp620Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002037907] Chr2:216450853 [GRCh38]
Chr2:217315576 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2244G>A (p.Lys748=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001877024] Chr2:216468046 [GRCh38]
Chr2:217332769 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.41A>T (p.Glu14Val) single nucleotide variant Inborn genetic diseases [RCV002548937]|Schimke immuno-osseous dysplasia [RCV002038351] Chr2:216414745 [GRCh38]
Chr2:217279468 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1612C>T (p.Gln538Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001941590] Chr2:216435464 [GRCh38]
Chr2:217300187 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.724G>T (p.Val242Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001998811] Chr2:216415428 [GRCh38]
Chr2:217280151 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.895C>A (p.Leu299Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002001097] Chr2:216420331 [GRCh38]
Chr2:217285054 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1921dup (p.Val641fs) duplication Schimke immuno-osseous dysplasia [RCV001956344] Chr2:216450914..216450915 [GRCh38]
Chr2:217315637..217315638 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1832G>A (p.Arg611His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001989793] Chr2:216447139 [GRCh38]
Chr2:217311862 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2527T>C (p.Trp843Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001903707] Chr2:216477208 [GRCh38]
Chr2:217341931 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1399C>T (p.Gln467Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001904405] Chr2:216432782 [GRCh38]
Chr2:217297505 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.426G>C (p.Glu142Asp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001922428] Chr2:216415130 [GRCh38]
Chr2:217279853 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001870492] Chr2:216447064 [GRCh38]
Chr2:217311787 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1762G>C (p.Ala588Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001937722] Chr2:216447069 [GRCh38]
Chr2:217311792 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1334+4G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002031611] Chr2:216428786 [GRCh38]
Chr2:217293509 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2141+5G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV001977049] Chr2:216464672 [GRCh38]
Chr2:217329395 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.1342A>G (p.Ile448Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002031697] Chr2:216432725 [GRCh38]
Chr2:217297448 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1958A>G (p.Gln653Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001917406] Chr2:216450952 [GRCh38]
Chr2:217315675 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2852C>T (p.Thr951Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002014807] Chr2:216482964 [GRCh38]
Chr2:217347687 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1437dup (p.Pro480fs) duplication Schimke immuno-osseous dysplasia [RCV001956204] Chr2:216432818..216432819 [GRCh38]
Chr2:217297541..217297542 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2834A>G (p.Asp945Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001952639] Chr2:216482946 [GRCh38]
Chr2:217347669 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001920058] Chr2:216414858 [GRCh38]
Chr2:217279581 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1910T>C (p.Leu637Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001916280] Chr2:216450904 [GRCh38]
Chr2:217315627 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1500G>T (p.Trp500Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001979375] Chr2:216435352 [GRCh38]
Chr2:217300075 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1603T>G (p.Leu535Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001961396] Chr2:216435455 [GRCh38]
Chr2:217300178 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.599C>T (p.Ser200Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001906918] Chr2:216415303 [GRCh38]
Chr2:217280026 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2132_2133delinsTT (p.Pro711Leu) indel Schimke immuno-osseous dysplasia [RCV001907043]|not provided [RCV003225201] Chr2:216464658..216464659 [GRCh38]
Chr2:217329381..217329382 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1222C>T (p.Gln408Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001950832] Chr2:216428670 [GRCh38]
Chr2:217293393 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2554G>A (p.Val852Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001936376] Chr2:216478228 [GRCh38]
Chr2:217342951 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2690T>C (p.Met897Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001905418] Chr2:216482802 [GRCh38]
Chr2:217347525 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2626-1G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV001900038] Chr2:216482737 [GRCh38]
Chr2:217347460 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.887C>T (p.Thr296Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001920154] Chr2:216420323 [GRCh38]
Chr2:217285046 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1485+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002036489] Chr2:216432869 [GRCh38]
Chr2:217297592 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.368C>G (p.Ser123Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001939109] Chr2:216415072 [GRCh38]
Chr2:217279795 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1071T>G (p.Phe357Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001906091] Chr2:216420507 [GRCh38]
Chr2:217285230 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1727del (p.Ile576fs) deletion SMARCAL1-related disorder [RCV003941201]|Schimke immuno-osseous dysplasia [RCV001940401] Chr2:216447034 [GRCh38]
Chr2:217311757 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.1657T>A (p.Phe553Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001988955] Chr2:216438432 [GRCh38]
Chr2:217303155 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1947C>A (p.Asp649Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001915819] Chr2:216450941 [GRCh38]
Chr2:217315664 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2589T>G (p.Phe863Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002012467] Chr2:216478263 [GRCh38]
Chr2:217342986 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.424G>A (p.Glu142Lys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001903992] Chr2:216415128 [GRCh38]
Chr2:217279851 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1850G>A (p.Arg617Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001897085] Chr2:216447157 [GRCh38]
Chr2:217311880 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2823del (p.Phe941fs) deletion Schimke immuno-osseous dysplasia [RCV001931335] Chr2:216482933 [GRCh38]
Chr2:217347656 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.209T>G (p.Ile70Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001973128] Chr2:216414913 [GRCh38]
Chr2:217279636 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1808C>G (p.Pro603Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001900818] Chr2:216447115 [GRCh38]
Chr2:217311838 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.709C>A (p.Gln237Lys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001993697] Chr2:216415413 [GRCh38]
Chr2:217280136 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1529A>G (p.Asn510Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002010945] Chr2:216435381 [GRCh38]
Chr2:217300104 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001898494] Chr2:216451010 [GRCh38]
Chr2:217315733 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.629G>T (p.Ser210Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV001877755] Chr2:216415333 [GRCh38]
Chr2:217280056 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1569G>A (p.Leu523=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002210241] Chr2:216435421 [GRCh38]
Chr2:217300144 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1461C>G (p.Ser487=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002207173] Chr2:216432844 [GRCh38]
Chr2:217297567 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1569G>C (p.Leu523=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002088334] Chr2:216435421 [GRCh38]
Chr2:217300144 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.135C>T (p.Asn45=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002144931] Chr2:216414839 [GRCh38]
Chr2:217279562 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-19G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002205917] Chr2:216450827 [GRCh38]
Chr2:217315550 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2277C>T (p.Thr759=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002128332] Chr2:216475301 [GRCh38]
Chr2:217340024 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1097-7A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002128962] Chr2:216423626 [GRCh38]
Chr2:217288349 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.147C>G (p.Ala49=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002128384] Chr2:216414851 [GRCh38]
Chr2:217279574 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.949G>A (p.Glu317Lys) single nucleotide variant Inborn genetic diseases [RCV003089106]|Schimke immuno-osseous dysplasia [RCV002208782] Chr2:216420385 [GRCh38]
Chr2:217285108 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1207C>T (p.Leu403=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002073805] Chr2:216428655 [GRCh38]
Chr2:217293378 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2700G>C (p.Leu900=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002148795] Chr2:216482812 [GRCh38]
Chr2:217347535 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1770C>G (p.Leu590=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002187968] Chr2:216447077 [GRCh38]
Chr2:217311800 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1608A>G (p.Glu536=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002145608] Chr2:216435460 [GRCh38]
Chr2:217300183 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-20C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002191206] Chr2:216450826 [GRCh38]
Chr2:217315549 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2838C>T (p.Asn946=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002168518] Chr2:216482950 [GRCh38]
Chr2:217347673 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.978A>G (p.Pro326=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002169187] Chr2:216420414 [GRCh38]
Chr2:217285137 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.435A>G (p.Gln145=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002168635] Chr2:216415139 [GRCh38]
Chr2:217279862 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-12T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002209748] Chr2:216428584 [GRCh38]
Chr2:217293307 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1644+9C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002086917] Chr2:216435505 [GRCh38]
Chr2:217300228 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1242C>G (p.Leu414=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002206439] Chr2:216428690 [GRCh38]
Chr2:217293413 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-19T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002206457] Chr2:216438401 [GRCh38]
Chr2:217303124 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1767G>A (p.Glu589=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002130231] Chr2:216447074 [GRCh38]
Chr2:217311797 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.300G>A (p.Lys100=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002075928] Chr2:216415004 [GRCh38]
Chr2:217279727 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1113G>A (p.Lys371=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002089124] Chr2:216423649 [GRCh38]
Chr2:217288372 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1134G>A (p.Glu378=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002205904] Chr2:216423670 [GRCh38]
Chr2:217288393 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1906C>T (p.Leu636=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002147667] Chr2:216450900 [GRCh38]
Chr2:217315623 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1572C>A (p.Ile524=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002087627] Chr2:216435424 [GRCh38]
Chr2:217300147 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.-96+155G>A single nucleotide variant not provided [RCV002223729] Chr2:216412803 [GRCh38]
Chr2:217277526 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.216G>A (p.Lys72=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002088114] Chr2:216414920 [GRCh38]
Chr2:217279643 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2622C>T (p.Tyr874=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002168949] Chr2:216478296 [GRCh38]
Chr2:217343019 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1458A>G (p.Pro486=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002127835] Chr2:216432841 [GRCh38]
Chr2:217297564 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1335-6C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002130164] Chr2:216432712 [GRCh38]
Chr2:217297435 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.129T>G (p.Ala43=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002169897] Chr2:216414833 [GRCh38]
Chr2:217279556 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.564T>C (p.Ala188=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002089930] Chr2:216415268 [GRCh38]
Chr2:217279991 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2029C>T (p.Leu677=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002097297] Chr2:216451023 [GRCh38]
Chr2:217315746 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2142-15C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002214739] Chr2:216467929 [GRCh38]
Chr2:217332652 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-4A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002189607] Chr2:216435334 [GRCh38]
Chr2:217300057 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.201T>C (p.His67=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002125947] Chr2:216414905 [GRCh38]
Chr2:217279628 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1384C>T (p.Leu462=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002168828] Chr2:216432767 [GRCh38]
Chr2:217297490 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.498T>C (p.Pro166=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002114849] Chr2:216415202 [GRCh38]
Chr2:217279925 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.885C>T (p.Pro295=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002074824] Chr2:216420321 [GRCh38]
Chr2:217285044 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.895C>T (p.Leu299=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002188474] Chr2:216420331 [GRCh38]
Chr2:217285054 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.792C>A (p.Thr264=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002169326] Chr2:216415496 [GRCh38]
Chr2:217280219 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1029C>T (p.Phe343=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002080420] Chr2:216420465 [GRCh38]
Chr2:217285188 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2245-12T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002117311] Chr2:216475257 [GRCh38]
Chr2:217339980 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.648C>T (p.Pro216=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002195329] Chr2:216415352 [GRCh38]
Chr2:217280075 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2658C>T (p.Phe886=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002073675] Chr2:216482770 [GRCh38]
Chr2:217347493 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.120C>T (p.Thr40=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002214613] Chr2:216414824 [GRCh38]
Chr2:217279547 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1329A>C (p.Gly443=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002145504] Chr2:216428777 [GRCh38]
Chr2:217293500 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1341C>T (p.Ala447=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002150913] Chr2:216432724 [GRCh38]
Chr2:217297447 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.828G>A (p.Thr276=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002184949] Chr2:216416273 [GRCh38]
Chr2:217280996 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2244+8C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002170361] Chr2:216468054 [GRCh38]
Chr2:217332777 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-10T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002130909] Chr2:216428586 [GRCh38]
Chr2:217293309 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2529-9C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002079428] Chr2:216478194 [GRCh38]
Chr2:217342917 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.858C>T (p.Ala286=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002187069] Chr2:216416303 [GRCh38]
Chr2:217281026 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2289G>A (p.Glu763=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002107761] Chr2:216475313 [GRCh38]
Chr2:217340036 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1458A>C (p.Pro486=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002131187] Chr2:216432841 [GRCh38]
Chr2:217297564 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2625+18C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002095837] Chr2:216478317 [GRCh38]
Chr2:217343040 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2388T>C (p.Ala796=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002212007] Chr2:216475412 [GRCh38]
Chr2:217340135 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.495G>A (p.Lys165=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002088406] Chr2:216415199 [GRCh38]
Chr2:217279922 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.60T>C (p.Ala20=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002205603] Chr2:216414764 [GRCh38]
Chr2:217279487 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.496C>T (p.Pro166Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002196234] Chr2:216415200 [GRCh38]
Chr2:217279923 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1563T>C (p.Ala521=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002173287] Chr2:216435415 [GRCh38]
Chr2:217300138 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1884C>T (p.Ser628=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002215662] Chr2:216450878 [GRCh38]
Chr2:217315601 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2619C>G (p.Leu873=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002132819] Chr2:216478293 [GRCh38]
Chr2:217343016 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2517T>C (p.Asp839=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002077386] Chr2:216477198 [GRCh38]
Chr2:217341921 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2676A>G (p.Lys892=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002215792] Chr2:216482788 [GRCh38]
Chr2:217347511 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1062T>C (p.Ile354=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002193481] Chr2:216420498 [GRCh38]
Chr2:217285221 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1096+11G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002097090] Chr2:216420543 [GRCh38]
Chr2:217285266 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2055C>T (p.Thr685=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002110342] Chr2:216451049 [GRCh38]
Chr2:217315772 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+18C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002096396] Chr2:216423701 [GRCh38]
Chr2:217288424 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1521T>C (p.Asp507=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002195267] Chr2:216435373 [GRCh38]
Chr2:217300096 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.744C>T (p.Phe248=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002148954] Chr2:216415448 [GRCh38]
Chr2:217280171 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1170A>G (p.Pro390=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002150374] Chr2:216428618 [GRCh38]
Chr2:217293341 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.453A>G (p.Ser151=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002101519] Chr2:216415157 [GRCh38]
Chr2:217279880 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2583C>T (p.Thr861=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002217980] Chr2:216478257 [GRCh38]
Chr2:217342980 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-8_1148-6del microsatellite Schimke immuno-osseous dysplasia [RCV002138955] Chr2:216428583..216428585 [GRCh38]
Chr2:217293306..217293308 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.96G>A (p.Gln32=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002099579] Chr2:216414800 [GRCh38]
Chr2:217279523 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1677T>A (p.Thr559=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002139193] Chr2:216438452 [GRCh38]
Chr2:217303175 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1056C>T (p.Asp352=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002179541] Chr2:216420492 [GRCh38]
Chr2:217285215 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.1506A>T (p.Pro502=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002158222] Chr2:216435358 [GRCh38]
Chr2:217300081 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2016G>A (p.Arg672=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002102794] Chr2:216451010 [GRCh38]
Chr2:217315733 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.321C>T (p.Ala107=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002117489] Chr2:216415025 [GRCh38]
Chr2:217279748 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.859C>T (p.Leu287=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002197752] Chr2:216416304 [GRCh38]
Chr2:217281027 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.522A>G (p.Gln174=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002083208] Chr2:216415226 [GRCh38]
Chr2:217279949 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1614G>A (p.Gln538=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002218630] Chr2:216435466 [GRCh38]
Chr2:217300189 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2142-14A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002163325] Chr2:216467930 [GRCh38]
Chr2:217332653 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2238G>A (p.Glu746=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002175478] Chr2:216468040 [GRCh38]
Chr2:217332763 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.123C>T (p.Ser41=) single nucleotide variant SMARCAL1-related disorder [RCV003984217]|Schimke immuno-osseous dysplasia [RCV002183331] Chr2:216414827 [GRCh38]
Chr2:217279550 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.591C>T (p.Ala197=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002121901] Chr2:216415295 [GRCh38]
Chr2:217280018 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.624T>C (p.His208=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002204293] Chr2:216415328 [GRCh38]
Chr2:217280051 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.183T>C (p.Ser61=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002154991] Chr2:216414887 [GRCh38]
Chr2:217279610 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2181G>A (p.Lys727=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002178437] Chr2:216467983 [GRCh38]
Chr2:217332706 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.735C>G (p.Gly245=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002184272] Chr2:216415439 [GRCh38]
Chr2:217280162 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.882C>G (p.Leu294=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002159261] Chr2:216420318 [GRCh38]
Chr2:217285041 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2299C>T (p.Leu767=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002143841] Chr2:216475323 [GRCh38]
Chr2:217340046 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2667C>T (p.Ser889=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002160746] Chr2:216482779 [GRCh38]
Chr2:217347502 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2802T>C (p.Ser934=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002156020] Chr2:216482914 [GRCh38]
Chr2:217347637 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2097T>C (p.Ile699=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002157843] Chr2:216464623 [GRCh38]
Chr2:217329346 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.630C>T (p.Ser210=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002117718] Chr2:216415334 [GRCh38]
Chr2:217280057 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2427+12A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002144461] Chr2:216475463 [GRCh38]
Chr2:217340186 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1293G>A (p.Lys431=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002177514] Chr2:216428741 [GRCh38]
Chr2:217293464 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2172A>G (p.Gly724=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002177643] Chr2:216467974 [GRCh38]
Chr2:217332697 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1851+14C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002103916] Chr2:216447172 [GRCh38]
Chr2:217311895 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1851+17C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002142888] Chr2:216447175 [GRCh38]
Chr2:217311898 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2427+7G>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002121874] Chr2:216475458 [GRCh38]
Chr2:217340181 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.852T>C (p.Tyr284=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002082409] Chr2:216416297 [GRCh38]
Chr2:217281020 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+20C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002101041] Chr2:216464687 [GRCh38]
Chr2:217329410 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+9C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002101048] Chr2:216423692 [GRCh38]
Chr2:217288415 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2094C>T (p.Leu698=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002157181] Chr2:216464620 [GRCh38]
Chr2:217329343 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.9G>A (p.Leu3=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002155919] Chr2:216414713 [GRCh38]
Chr2:217279436 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.573G>A (p.Glu191=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002135574] Chr2:216415277 [GRCh38]
Chr2:217280000 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1998A>C (p.Pro666=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002177571] Chr2:216450992 [GRCh38]
Chr2:217315715 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1152A>G (p.Ala384=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002220700] Chr2:216428600 [GRCh38]
Chr2:217293323 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-9T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002183645] Chr2:216428587 [GRCh38]
Chr2:217293310 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.195G>A (p.Val65=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002176613] Chr2:216414899 [GRCh38]
Chr2:217279622 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1320G>A (p.Gln440=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002184387] Chr2:216428768 [GRCh38]
Chr2:217293491 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2392C>T (p.Leu798=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002204457] Chr2:216475416 [GRCh38]
Chr2:217340139 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1506A>G (p.Pro502=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002204847] Chr2:216435358 [GRCh38]
Chr2:217300081 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1097-8C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002163224] Chr2:216423625 [GRCh38]
Chr2:217288348 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1857T>A (p.Pro619=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002176848] Chr2:216450851 [GRCh38]
Chr2:217315574 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1641C>T (p.Ile547=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003114127] Chr2:216435493 [GRCh38]
Chr2:217300216 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_217341812)_(217341952_?)del deletion Schimke immuno-osseous dysplasia [RCV003116689] Chr2:217341812..217341952 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_217311721)_(217311901_?)del deletion Schimke immuno-osseous dysplasia [RCV003116690] Chr2:217311721..217311901 [GRCh37]
Chr2:2q35		 likely pathogenic
NC_000002.11:g.(?_217279428)_(217281050_?)del deletion Schimke immuno-osseous dysplasia [RCV003116691] Chr2:217279428..217281050 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_217279428)_(217347700_?)dup duplication Schimke immuno-osseous dysplasia [RCV003116692] Chr2:217279428..217347700 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2141+18G>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003121414] Chr2:216464685 [GRCh38]
Chr2:217329408 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1700C>A (p.Pro567Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003121628] Chr2:216438475 [GRCh38]
Chr2:217303198 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294659]|Schimke immuno-osseous dysplasia [RCV003101702] Chr2:216415057 [GRCh38]
Chr2:217279780 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2313C>G (p.Phe771Leu) single nucleotide variant Kidney disorder [RCV002294683] Chr2:216475337 [GRCh38]
Chr2:217340060 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294642]|Schimke immuno-osseous dysplasia [RCV003097855] Chr2:216420401 [GRCh38]
Chr2:217285124 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.2045A>G (p.Lys682Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002303848] Chr2:216451039 [GRCh38]
Chr2:217315762 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2070+5G>A single nucleotide variant See cases [RCV004584287] Chr2:216451069 [GRCh38]
Chr2:217315792 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.652A>G (p.Thr218Ala) single nucleotide variant Inborn genetic diseases [RCV002880012] Chr2:216415356 [GRCh38]
Chr2:217280079 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.740G>A (p.Arg247His) single nucleotide variant Inborn genetic diseases [RCV002902450] Chr2:216415444 [GRCh38]
Chr2:217280167 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.29G>T (p.Arg10Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002838499] Chr2:216414733 [GRCh38]
Chr2:217279456 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.591C>G (p.Ala197=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002750924] Chr2:216415295 [GRCh38]
Chr2:217280018 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1567C>T (p.Leu523=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002616379] Chr2:216435419 [GRCh38]
Chr2:217300142 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2625+9A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002881308] Chr2:216478308 [GRCh38]
Chr2:217343031 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.498del (p.Leu167fs) deletion Schimke immuno-osseous dysplasia [RCV002881338] Chr2:216415202 [GRCh38]
Chr2:217279925 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1700C>T (p.Pro567Leu) single nucleotide variant Inborn genetic diseases [RCV002836900] Chr2:216438475 [GRCh38]
Chr2:217303198 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1866G>A (p.Trp622Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003034014] Chr2:216450860 [GRCh38]
Chr2:217315583 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2421C>T (p.Asn807=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003034717] Chr2:216475445 [GRCh38]
Chr2:217340168 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.110G>C (p.Ser37Thr) single nucleotide variant Inborn genetic diseases [RCV002906493] Chr2:216414814 [GRCh38]
Chr2:217279537 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1536G>C (p.Val512=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002734831] Chr2:216435388 [GRCh38]
Chr2:217300111 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.711G>A (p.Gln237=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003017556] Chr2:216415415 [GRCh38]
Chr2:217280138 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.876G>A (p.Gln292=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002996127] Chr2:216420312 [GRCh38]
Chr2:217285035 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1419C>T (p.Ala473=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002991653] Chr2:216432802 [GRCh38]
Chr2:217297525 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1743A>C (p.Thr581=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002818979] Chr2:216447050 [GRCh38]
Chr2:217311773 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2203A>G (p.Lys735Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003073597] Chr2:216468005 [GRCh38]
Chr2:217332728 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.89C>T (p.Ala30Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002751381] Chr2:216414793 [GRCh38]
Chr2:217279516 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.530del (p.Pro177fs) deletion Schimke immuno-osseous dysplasia [RCV002861536] Chr2:216415233 [GRCh38]
Chr2:217279956 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1486-8A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002991461] Chr2:216435330 [GRCh38]
Chr2:217300053 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1784T>G (p.Ile595Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002686089] Chr2:216447091 [GRCh38]
Chr2:217311814 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1828C>G (p.Leu610Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003016063] Chr2:216447135 [GRCh38]
Chr2:217311858 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.644C>T (p.Thr215Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002995423] Chr2:216415348 [GRCh38]
Chr2:217280071 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1159C>T (p.Arg387Cys) single nucleotide variant SMARCAL1-related disorder [RCV003916608]|Schimke immuno-osseous dysplasia [RCV002904456] Chr2:216428607 [GRCh38]
Chr2:217293330 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.989T>A (p.Phe330Tyr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003095556] Chr2:216420425 [GRCh38]
Chr2:217285148 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2004G>A (p.Arg668=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003015661] Chr2:216450998 [GRCh38]
Chr2:217315721 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.107C>A (p.Thr36Asn) single nucleotide variant Inborn genetic diseases [RCV002839602] Chr2:216414811 [GRCh38]
Chr2:217279534 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.176G>C (p.Arg59Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002615676] Chr2:216414880 [GRCh38]
Chr2:217279603 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2136T>C (p.Ser712=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002908369] Chr2:216464662 [GRCh38]
Chr2:217329385 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.57G>A (p.Lys19=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002947429] Chr2:216414761 [GRCh38]
Chr2:217279484 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.545G>T (p.Gly182Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002843245] Chr2:216415249 [GRCh38]
Chr2:217279972 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1860G>T (p.Trp620Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002756160] Chr2:216450854 [GRCh38]
Chr2:217315577 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2350A>G (p.Ile784Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002695537] Chr2:216475374 [GRCh38]
Chr2:217340097 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.662G>T (p.Arg221Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002640596] Chr2:216415366 [GRCh38]
Chr2:217280089 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1486-20T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003078339] Chr2:216435318 [GRCh38]
Chr2:217300041 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2256C>T (p.His752=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002889380] Chr2:216475280 [GRCh38]
Chr2:217340003 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1071del (p.Phe357fs) deletion Schimke immuno-osseous dysplasia [RCV003053726] Chr2:216420503 [GRCh38]
Chr2:217285226 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1992T>A (p.Ile664=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002825619] Chr2:216450986 [GRCh38]
Chr2:217315709 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1806C>T (p.Phe602=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002999066] Chr2:216447113 [GRCh38]
Chr2:217311836 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1475C>T (p.Thr492Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002620915] Chr2:216432858 [GRCh38]
Chr2:217297581 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.769G>T (p.Glu257Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002889589] Chr2:216415473 [GRCh38]
Chr2:217280196 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.314C>T (p.Pro105Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003078938] Chr2:216415018 [GRCh38]
Chr2:217279741 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.926G>A (p.Ser309Asn) single nucleotide variant Inborn genetic diseases [RCV003341516]|Schimke immuno-osseous dysplasia [RCV002637706] Chr2:216420362 [GRCh38]
Chr2:217285085 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1224dup (p.Leu409fs) duplication Schimke immuno-osseous dysplasia [RCV002824111] Chr2:216428671..216428672 [GRCh38]
Chr2:217293394..217293395 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2007C>A (p.Ile669=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002868040] Chr2:216451001 [GRCh38]
Chr2:217315724 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2346G>A (p.Leu782=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002847325] Chr2:216475370 [GRCh38]
Chr2:217340093 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2245-11T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002867153] Chr2:216475258 [GRCh38]
Chr2:217339981 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2070+9A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002886627] Chr2:216451073 [GRCh38]
Chr2:217315796 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1836C>A (p.Tyr612Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002824156] Chr2:216447143 [GRCh38]
Chr2:217311866 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2428-13C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003080021] Chr2:216477096 [GRCh38]
Chr2:217341819 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1998A>G (p.Pro666=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003020174] Chr2:216450992 [GRCh38]
Chr2:217315715 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1869C>G (p.Asp623Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002948381] Chr2:216450863 [GRCh38]
Chr2:217315586 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1842T>C (p.Asp614=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002948331] Chr2:216447149 [GRCh38]
Chr2:217311872 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1987G>T (p.Val663Leu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002705226] Chr2:216450981 [GRCh38]
Chr2:217315704 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1245T>C (p.Ser415=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002756850] Chr2:216428693 [GRCh38]
Chr2:217293416 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2625+8C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002884940] Chr2:216478307 [GRCh38]
Chr2:217343030 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1259T>C (p.Val420Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002637955] Chr2:216428707 [GRCh38]
Chr2:217293430 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.319G>A (p.Ala107Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002780308] Chr2:216415023 [GRCh38]
Chr2:217279746 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1450G>A (p.Val484Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003021171] Chr2:216432833 [GRCh38]
Chr2:217297556 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2571G>C (p.Gly857=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002866368] Chr2:216478245 [GRCh38]
Chr2:217342968 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2071-5A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002885405] Chr2:216464592 [GRCh38]
Chr2:217329315 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2391C>T (p.Asp797=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002780844] Chr2:216475415 [GRCh38]
Chr2:217340138 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.954A>G (p.Gly318=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002622580] Chr2:216420390 [GRCh38]
Chr2:217285113 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.588dup (p.Ala197fs) duplication Schimke immuno-osseous dysplasia [RCV002820547] Chr2:216415288..216415289 [GRCh38]
Chr2:217280011..217280012 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2529-9C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002976132] Chr2:216478194 [GRCh38]
Chr2:217342917 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2625+10G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002659119] Chr2:216478309 [GRCh38]
Chr2:217343032 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.403A>G (p.Lys135Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003077239] Chr2:216415107 [GRCh38]
Chr2:217279830 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1847A>G (p.Lys616Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002706752] Chr2:216447154 [GRCh38]
Chr2:217311877 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1536G>A (p.Val512=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002592356] Chr2:216435388 [GRCh38]
Chr2:217300111 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.33A>G (p.Lys11=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002978978] Chr2:216414737 [GRCh38]
Chr2:217279460 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.25C>G (p.Gln9Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002761588] Chr2:216414729 [GRCh38]
Chr2:217279452 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.342T>C (p.Arg114=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002952863] Chr2:216415046 [GRCh38]
Chr2:217279769 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.204T>C (p.Gly68=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003036938] Chr2:216414908 [GRCh38]
Chr2:217279631 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1485+19G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002926825] Chr2:216432887 [GRCh38]
Chr2:217297610 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.162C>T (p.Ser54=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002760907] Chr2:216414866 [GRCh38]
Chr2:217279589 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.313C>T (p.Pro105Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002761689] Chr2:216415017 [GRCh38]
Chr2:217279740 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1097-15T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002695490] Chr2:216423618 [GRCh38]
Chr2:217288341 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2014A>G (p.Arg672Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003080253] Chr2:216451008 [GRCh38]
Chr2:217315731 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1233G>A (p.Lys411=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002621218] Chr2:216428681 [GRCh38]
Chr2:217293404 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1335-15C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003080058] Chr2:216432703 [GRCh38]
Chr2:217297426 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-7T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002790833] Chr2:216450839 [GRCh38]
Chr2:217315562 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2724A>G (p.Pro908=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003023817] Chr2:216482836 [GRCh38]
Chr2:217347559 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+2T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002932737] Chr2:216423685 [GRCh38]
Chr2:217288408 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2128dup (p.Ile710fs) duplication Schimke immuno-osseous dysplasia [RCV003057626] Chr2:216464650..216464651 [GRCh38]
Chr2:217329373..217329374 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1335-10C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002876767] Chr2:216432708 [GRCh38]
Chr2:217297431 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.521A>G (p.Gln174Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002666753] Chr2:216415225 [GRCh38]
Chr2:217279948 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2529-7C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002766220] Chr2:216478196 [GRCh38]
Chr2:217342919 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.429_430insTGATTTA (p.Gly144Ter) insertion Schimke immuno-osseous dysplasia [RCV003057113] Chr2:216415130..216415131 [GRCh38]
Chr2:217279853..217279854 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2099T>C (p.Leu700Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002643200] Chr2:216464625 [GRCh38]
Chr2:217329348 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1096+13T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003057711] Chr2:216420545 [GRCh38]
Chr2:217285268 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1644+16A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV002664180] Chr2:216435512 [GRCh38]
Chr2:217300235 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.837C>T (p.Phe279=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003081824] Chr2:216416282 [GRCh38]
Chr2:217281005 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1211C>A (p.Ala404Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003056440] Chr2:216428659 [GRCh38]
Chr2:217293382 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2687A>C (p.Asp896Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002572332] Chr2:216482799 [GRCh38]
Chr2:217347522 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.678A>G (p.Ser226=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002872662] Chr2:216415382 [GRCh38]
Chr2:217280105 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+16T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002642514] Chr2:216423699 [GRCh38]
Chr2:217288422 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2592A>C (p.Ser864=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003025327] Chr2:216478266 [GRCh38]
Chr2:217342989 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.50G>A (p.Arg17Gln) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002575939] Chr2:216414754 [GRCh38]
Chr2:217279477 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.882C>T (p.Leu294=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003008103] Chr2:216420318 [GRCh38]
Chr2:217285041 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1503G>C (p.Leu501=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003059568] Chr2:216435355 [GRCh38]
Chr2:217300078 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-20C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002928445] Chr2:216420279 [GRCh38]
Chr2:217285002 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2216A>C (p.Asp739Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002982708] Chr2:216468018 [GRCh38]
Chr2:217332741 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2025T>C (p.Ala675=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002876120] Chr2:216451019 [GRCh38]
Chr2:217315742 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.471A>G (p.Thr157=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002740575] Chr2:216415175 [GRCh38]
Chr2:217279898 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2320T>C (p.Ser774Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003025224] Chr2:216475344 [GRCh38]
Chr2:217340067 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1707A>G (p.Leu569=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002852793] Chr2:216438482 [GRCh38]
Chr2:217303205 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1335-7C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003057915] Chr2:216432711 [GRCh38]
Chr2:217297434 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2157C>G (p.Asp719Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002700076] Chr2:216467959 [GRCh38]
Chr2:217332682 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1982T>G (p.Ile661Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002800886] Chr2:216450976 [GRCh38]
Chr2:217315699 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2626-15C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002572586] Chr2:216482723 [GRCh38]
Chr2:217347446 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1301C>T (p.Ser434Phe) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002624214] Chr2:216428749 [GRCh38]
Chr2:217293472 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2610T>C (p.Thr870=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002829646] Chr2:216478284 [GRCh38]
Chr2:217343007 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1737G>A (p.Ser579=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002890902] Chr2:216447044 [GRCh38]
Chr2:217311767 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1434G>T (p.Glu478Asp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002663693] Chr2:216432817 [GRCh38]
Chr2:217297540 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1065G>T (p.Ala355=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003087841] Chr2:216420501 [GRCh38]
Chr2:217285224 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2044A>G (p.Lys682Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002810780] Chr2:216451038 [GRCh38]
Chr2:217315761 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1169del (p.Pro390fs) deletion Schimke immuno-osseous dysplasia [RCV002601580] Chr2:216428615 [GRCh38]
Chr2:217293338 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys) single nucleotide variant Inborn genetic diseases [RCV004070390]|SMARCAL1-related disorder [RCV003418734]|Schimke immuno-osseous dysplasia [RCV003065284] Chr2:216415044 [GRCh38]
Chr2:217279767 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1579G>T (p.Val527Phe) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003060207] Chr2:216435431 [GRCh38]
Chr2:217300154 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1440G>C (p.Pro480=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003044965] Chr2:216432823 [GRCh38]
Chr2:217297546 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2428-7C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003031279] Chr2:216477102 [GRCh38]
Chr2:217341825 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+8G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003031865] Chr2:216464675 [GRCh38]
Chr2:217329398 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.804G>C (p.Lys268Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003046425] Chr2:216415508 [GRCh38]
Chr2:217280231 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.348A>G (p.Gln116=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002632975] Chr2:216415052 [GRCh38]
Chr2:217279775 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1344A>C (p.Ile448=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003092151] Chr2:216432727 [GRCh38]
Chr2:217297450 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.912G>T (p.Trp304Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002720321] Chr2:216420348 [GRCh38]
Chr2:217285071 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.960C>G (p.Ala320=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002651127] Chr2:216420396 [GRCh38]
Chr2:217285119 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1211C>T (p.Ala404Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003062316] Chr2:216428659 [GRCh38]
Chr2:217293382 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1682G>A (p.Arg561His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002648045] Chr2:216438457 [GRCh38]
Chr2:217303180 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002650296] Chr2:216415074 [GRCh38]
Chr2:217279797 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1334+11G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002631621] Chr2:216428793 [GRCh38]
Chr2:217293516 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.894C>T (p.Asn298=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002962015] Chr2:216420330 [GRCh38]
Chr2:217285053 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.955C>T (p.Gln319Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002651604] Chr2:216420391 [GRCh38]
Chr2:217285114 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.667C>T (p.Gln223Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002857027] Chr2:216415371 [GRCh38]
Chr2:217280094 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1827A>G (p.Gly609=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003045885] Chr2:216447134 [GRCh38]
Chr2:217311857 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2538dup (p.Gln847fs) duplication Schimke immuno-osseous dysplasia [RCV002715760] Chr2:216478210..216478211 [GRCh38]
Chr2:217342933..217342934 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2309A>G (p.Gln770Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002627490] Chr2:216475333 [GRCh38]
Chr2:217340056 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1250C>T (p.Thr417Met) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003063366] Chr2:216428698 [GRCh38]
Chr2:217293421 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.756T>A (p.Ile252=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002810226] Chr2:216415460 [GRCh38]
Chr2:217280183 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2529-4A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003028581] Chr2:216478199 [GRCh38]
Chr2:217342922 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1415C>T (p.Ala472Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002717291] Chr2:216432798 [GRCh38]
Chr2:217297521 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.638G>T (p.Ser213Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002578456] Chr2:216415342 [GRCh38]
Chr2:217280065 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1503G>A (p.Leu501=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003027715] Chr2:216435355 [GRCh38]
Chr2:217300078 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2180A>C (p.Lys727Thr) single nucleotide variant Inborn genetic diseases [RCV002748276] Chr2:216467982 [GRCh38]
Chr2:217332705 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.322T>C (p.Cys108Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002716917] Chr2:216415026 [GRCh38]
Chr2:217279749 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2569G>A (p.Gly857Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002628704] Chr2:216478243 [GRCh38]
Chr2:217342966 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2325G>A (p.Glu775=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003011590] Chr2:216475349 [GRCh38]
Chr2:217340072 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.934C>G (p.Pro312Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002649622] Chr2:216420370 [GRCh38]
Chr2:217285093 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2046G>C (p.Lys682Asn) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002811053] Chr2:216451040 [GRCh38]
Chr2:217315763 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.519C>G (p.Ser173=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003030419] Chr2:216415223 [GRCh38]
Chr2:217279946 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2244+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002811899] Chr2:216468047 [GRCh38]
Chr2:217332770 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2803C>G (p.Pro935Ala) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002791843] Chr2:216482915 [GRCh38]
Chr2:217347638 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2185T>G (p.Leu729Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003060958] Chr2:216467987 [GRCh38]
Chr2:217332710 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1061T>C (p.Ile354Thr) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003062315] Chr2:216420497 [GRCh38]
Chr2:217285220 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1611del (p.Lys537fs) deletion Schimke immuno-osseous dysplasia [RCV002645828] Chr2:216435459 [GRCh38]
Chr2:217300182 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2670T>C (p.Phe890=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002898651] Chr2:216482782 [GRCh38]
Chr2:217347505 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2535G>C (p.Leu845=) single nucleotide variant SMARCAL1-related disorder [RCV003898462]|Schimke immuno-osseous dysplasia [RCV002649480] Chr2:216478209 [GRCh38]
Chr2:217342932 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002651605]|not provided [RCV003236952] Chr2:216477130 [GRCh38]
Chr2:217341853 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_014140.4(SMARCAL1):c.2333C>A (p.Ala778Asp) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003061320] Chr2:216475357 [GRCh38]
Chr2:217340080 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1851+3A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003087372] Chr2:216447161 [GRCh38]
Chr2:217311884 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.527C>T (p.Thr176Ile) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002963083] Chr2:216415231 [GRCh38]
Chr2:217279954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1486-10T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002857361] Chr2:216435328 [GRCh38]
Chr2:217300051 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2832dup (p.Asp945Ter) duplication Schimke immuno-osseous dysplasia [RCV003063528] Chr2:216482938..216482939 [GRCh38]
Chr2:217347661..217347662 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.474C>G (p.Pro158=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002938651] Chr2:216415178 [GRCh38]
Chr2:217279901 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1967C>G (p.Ala656Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003061454] Chr2:216450961 [GRCh38]
Chr2:217315684 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.382C>T (p.Gln128Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003046195] Chr2:216415086 [GRCh38]
Chr2:217279809 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1800T>C (p.Thr600=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003029673] Chr2:216447107 [GRCh38]
Chr2:217311830 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2599A>T (p.Thr867Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003061915] Chr2:216478273 [GRCh38]
Chr2:217342996 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.862+12C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002649784] Chr2:216416319 [GRCh38]
Chr2:217281042 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.443C>T (p.Ala148Val) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002632117] Chr2:216415147 [GRCh38]
Chr2:217279870 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1638C>T (p.Val546=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003060976] Chr2:216435490 [GRCh38]
Chr2:217300213 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.237A>G (p.Ser79=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003031463] Chr2:216414941 [GRCh38]
Chr2:217279664 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.99T>C (p.His33=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002600827] Chr2:216414803 [GRCh38]
Chr2:217279526 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2589T>C (p.Phe863=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003061283] Chr2:216478263 [GRCh38]
Chr2:217342986 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.596C>A (p.Pro199His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003045580] Chr2:216415300 [GRCh38]
Chr2:217280023 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1932G>A (p.Arg644=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002583709] Chr2:216450926 [GRCh38]
Chr2:217315649 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-14_812-13del microsatellite Schimke immuno-osseous dysplasia [RCV002658236] Chr2:216416241..216416242 [GRCh38]
Chr2:217280964..217280965 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2520C>T (p.Asp840=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002721564] Chr2:216477201 [GRCh38]
Chr2:217341924 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2306A>G (p.Gln769Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002814960] Chr2:216475330 [GRCh38]
Chr2:217340053 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2692G>A (p.Glu898Lys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002605941] Chr2:216482804 [GRCh38]
Chr2:217347527 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2782G>A (p.Glu928Lys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003092199] Chr2:216482894 [GRCh38]
Chr2:217347617 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2333C>G (p.Ala778Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002604695] Chr2:216475357 [GRCh38]
Chr2:217340080 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.325C>T (p.Pro109Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003068263] Chr2:216415029 [GRCh38]
Chr2:217279752 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1353A>C (p.Gly451=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002654029] Chr2:216432736 [GRCh38]
Chr2:217297459 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002635286] Chr2:216477210 [GRCh38]
Chr2:217341933 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.761A>G (p.Tyr254Cys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002943042] Chr2:216415465 [GRCh38]
Chr2:217280188 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.508C>T (p.Pro170Ser) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002605708] Chr2:216415212 [GRCh38]
Chr2:217279935 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.867A>G (p.Lys289=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002587777] Chr2:216420303 [GRCh38]
Chr2:217285026 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-17C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV002587982] Chr2:216435321 [GRCh38]
Chr2:217300044 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2528+6G>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002585340] Chr2:216477215 [GRCh38]
Chr2:217341938 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.862+19G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV002606050] Chr2:216416326 [GRCh38]
Chr2:217281049 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1064C>A (p.Ala355Glu) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002606051] Chr2:216420500 [GRCh38]
Chr2:217285223 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2626-19T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV002633763] Chr2:216482719 [GRCh38]
Chr2:217347442 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2261G>A (p.Arg754His) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002603754] Chr2:216475285 [GRCh38]
Chr2:217340008 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2221A>G (p.Ile741Val) single nucleotide variant Inborn genetic diseases [RCV003068384]|Schimke immuno-osseous dysplasia [RCV003068383] Chr2:216468023 [GRCh38]
Chr2:217332746 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.1224G>A (p.Gln408=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002589529] Chr2:216428672 [GRCh38]
Chr2:217293395 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2260C>G (p.Arg754Gly) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002654896] Chr2:216475284 [GRCh38]
Chr2:217340007 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1645-19T>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003068625] Chr2:216438401 [GRCh38]
Chr2:217303124 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.768G>A (p.Ala256=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003072870] Chr2:216415472 [GRCh38]
Chr2:217280195 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_014140.4(SMARCAL1):c.705C>A (p.Asn235Lys) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003093359] Chr2:216415409 [GRCh38]
Chr2:217280132 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2410C>T (p.Leu804=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV002610567] Chr2:216475434 [GRCh38]
Chr2:217340157 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1120T>C (p.Phe374Leu) single nucleotide variant Inborn genetic diseases [RCV003205468] Chr2:216423656 [GRCh38]
Chr2:217288379 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1426C>T (p.Arg476Trp) single nucleotide variant Inborn genetic diseases [RCV003195940] Chr2:216432809 [GRCh38]
Chr2:217297532 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1810C>T (p.Gln604Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003156047] Chr2:216447117 [GRCh38]
Chr2:217311840 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.223_239del (p.Gln74_Asn75insTer) deletion Schimke immuno-osseous dysplasia [RCV003134139] Chr2:216414927..216414943 [GRCh38]
Chr2:217279650..217279666 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2245-192T>C single nucleotide variant not provided [RCV003319630] Chr2:216475077 [GRCh38]
Chr2:217339800 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_014140.4(SMARCAL1):c.2826A>G (p.Glu942=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503203] Chr2:216482938 [GRCh38]
Chr2:217347661 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-2A>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503249] Chr2:216447016 [GRCh38]
Chr2:217311739 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1716C>T (p.Ala572=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503162] Chr2:216447023 [GRCh38]
Chr2:217311746 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+19T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503240] Chr2:216423702 [GRCh38]
Chr2:217288425 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1851+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503297] Chr2:216447159 [GRCh38]
Chr2:217311882 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1936dup (p.Leu646fs) duplication Schimke immuno-osseous dysplasia [RCV003503313] Chr2:216450928..216450929 [GRCh38]
Chr2:217315651..217315652 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1363C>T (p.Leu455=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503494] Chr2:216432746 [GRCh38]
Chr2:217297469 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.427_430del (p.Leu143fs) deletion Schimke immuno-osseous dysplasia [RCV003503382] Chr2:216415129..216415132 [GRCh38]
Chr2:217279852..217279855 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2529G>A (p.Trp843Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503419] Chr2:216478203 [GRCh38]
Chr2:217342926 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1851+10A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503724] Chr2:216447168 [GRCh38]
Chr2:217311891 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1704C>T (p.Val568=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503473] Chr2:216438479 [GRCh38]
Chr2:217303202 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2460C>T (p.Arg820=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503520] Chr2:216477141 [GRCh38]
Chr2:217341864 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+17A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503536] Chr2:216423700 [GRCh38]
Chr2:217288423 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2020A>T (p.Arg674Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504340] Chr2:216451014 [GRCh38]
Chr2:217315737 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2528+9T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504046] Chr2:216477218 [GRCh38]
Chr2:217341941 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.165A>G (p.Gln55=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503829] Chr2:216414869 [GRCh38]
Chr2:217279592 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2071-11T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503957] Chr2:216464586 [GRCh38]
Chr2:217329309 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1831del (p.Arg611fs) deletion Schimke immuno-osseous dysplasia [RCV003504522] Chr2:216447138 [GRCh38]
Chr2:217311861 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1710+19T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504126] Chr2:216438504 [GRCh38]
Chr2:217303227 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.986C>A (p.Ser329Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504032] Chr2:216420422 [GRCh38]
Chr2:217285145 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2308C>T (p.Gln770Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504525] Chr2:216475332 [GRCh38]
Chr2:217340055 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1147+14C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504485] Chr2:216423697 [GRCh38]
Chr2:217288420 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504521] Chr2:216428783 [GRCh38]
Chr2:217293506 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1860G>A (p.Trp620Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504523] Chr2:216450854 [GRCh38]
Chr2:217315577 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1874C>G (p.Ser625Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504524] Chr2:216450868 [GRCh38]
Chr2:217315591 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.585A>C (p.Ala195=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003504580] Chr2:216415289 [GRCh38]
Chr2:217280012 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1096+19T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502884] Chr2:216420551 [GRCh38]
Chr2:217285274 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-16C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503250] Chr2:216428580 [GRCh38]
Chr2:217293303 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1833C>T (p.Arg611=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503218] Chr2:216447140 [GRCh38]
Chr2:217311863 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2355C>A (p.Thr785=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503737] Chr2:216475379 [GRCh38]
Chr2:217340102 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.580_583dup (p.Ala195fs) duplication Schimke immuno-osseous dysplasia [RCV003502945] Chr2:216415281..216415282 [GRCh38]
Chr2:217280004..217280005 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1148-14G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503167] Chr2:216428582 [GRCh38]
Chr2:217293305 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+15T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003503519] Chr2:216428797 [GRCh38]
Chr2:217293520 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.888_889del (p.Val297fs) deletion Schimke immuno-osseous dysplasia [RCV003503543] Chr2:216420324..216420325 [GRCh38]
Chr2:217285047..217285048 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.948T>C (p.Ser316=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502754] Chr2:216420384 [GRCh38]
Chr2:217285107 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2697C>T (p.Leu899=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502756] Chr2:216482809 [GRCh38]
Chr2:217347532 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1225C>G (p.Leu409Val) single nucleotide variant SMARCAL1-related disorder [RCV003402362] Chr2:216428673 [GRCh38]
Chr2:217293396 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.649A>C (p.Arg217=) single nucleotide variant not provided [RCV003429530] Chr2:216415353 [GRCh38]
Chr2:217280076 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1110G>A (p.Arg370=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003849258] Chr2:216423646 [GRCh38]
Chr2:217288369 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2626-11C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003829959] Chr2:216482727 [GRCh38]
Chr2:217347450 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1096+12G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003830359] Chr2:216420544 [GRCh38]
Chr2:217285267 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.963C>T (p.Gly321=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003828695] Chr2:216420399 [GRCh38]
Chr2:217285122 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2529-12T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003878703] Chr2:216478191 [GRCh38]
Chr2:217342914 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1485+18T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003881230] Chr2:216432886 [GRCh38]
Chr2:217297609 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2071-12A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003881975] Chr2:216464585 [GRCh38]
Chr2:217329308 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1710+20G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003824754] Chr2:216438505 [GRCh38]
Chr2:217303228 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+12A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611225] Chr2:216428794 [GRCh38]
Chr2:217293517 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1644+17A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611333] Chr2:216435513 [GRCh38]
Chr2:217300236 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2070+8C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611260] Chr2:216451072 [GRCh38]
Chr2:217315795 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-12G>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003832780] Chr2:216416245 [GRCh38]
Chr2:217280968 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1644+14C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612490] Chr2:216435510 [GRCh38]
Chr2:217300233 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.863-15C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612539] Chr2:216420284 [GRCh38]
Chr2:217285007 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2535G>A (p.Leu845=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612538] Chr2:216478209 [GRCh38]
Chr2:217342932 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.708T>G (p.Ser236=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612572] Chr2:216415412 [GRCh38]
Chr2:217280135 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1353A>G (p.Gly451=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611404] Chr2:216432736 [GRCh38]
Chr2:217297459 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2436C>T (p.Ile812=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612631] Chr2:216477117 [GRCh38]
Chr2:217341840 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2244+19T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611448] Chr2:216468065 [GRCh38]
Chr2:217332788 [GRCh37]
Chr2:2q35		 benign
NM_014140.4(SMARCAL1):c.2245-13C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611474] Chr2:216475256 [GRCh38]
Chr2:217339979 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.561T>C (p.Asp187=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611477] Chr2:216415265 [GRCh38]
Chr2:217279988 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1777C>T (p.Gln593Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612595] Chr2:216447084 [GRCh38]
Chr2:217311807 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1482G>A (p.Glu494=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612680] Chr2:216432865 [GRCh38]
Chr2:217297588 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.862+9A>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612668] Chr2:216416316 [GRCh38]
Chr2:217281039 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2862G>A (p.Leu954=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611710] Chr2:216482974 [GRCh38]
Chr2:217347697 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1737G>C (p.Ser579=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612750] Chr2:216447044 [GRCh38]
Chr2:217311767 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.120C>G (p.Thr40=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611707] Chr2:216414824 [GRCh38]
Chr2:217279547 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2428-12C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612796] Chr2:216477097 [GRCh38]
Chr2:217341820 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2529-16C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611767] Chr2:216478187 [GRCh38]
Chr2:217342910 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1185C>T (p.Asp395=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612869] Chr2:216428633 [GRCh38]
Chr2:217293356 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.837del (p.Phe279fs) deletion Schimke immuno-osseous dysplasia [RCV003612943] Chr2:216416282 [GRCh38]
Chr2:217281005 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.840C>T (p.Ser280=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612946] Chr2:216416285 [GRCh38]
Chr2:217281008 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1851+17C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612997] Chr2:216447175 [GRCh38]
Chr2:217311898 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1945_1951del (p.Asp649fs) deletion Schimke immuno-osseous dysplasia [RCV003613038] Chr2:216450935..216450941 [GRCh38]
Chr2:217315658..217315664 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.486A>G (p.Pro162=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611904] Chr2:216415190 [GRCh38]
Chr2:217279913 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1017C>T (p.Ser339=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613082] Chr2:216420453 [GRCh38]
Chr2:217285176 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2856T>C (p.Ser952=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613108] Chr2:216482968 [GRCh38]
Chr2:217347691 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+11A>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611963] Chr2:216464678 [GRCh38]
Chr2:217329401 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2169T>C (p.Ser723=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611980] Chr2:216467971 [GRCh38]
Chr2:217332694 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.68G>C (p.Arg23Pro) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613117] Chr2:216414772 [GRCh38]
Chr2:217279495 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1125C>T (p.Leu375=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612023] Chr2:216423661 [GRCh38]
Chr2:217288384 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.474C>T (p.Pro158=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613154] Chr2:216415178 [GRCh38]
Chr2:217279901 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-2A>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613169] Chr2:216416255 [GRCh38]
Chr2:217280978 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.1890G>A (p.Leu630=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613268] Chr2:216450884 [GRCh38]
Chr2:217315607 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2721C>T (p.Asp907=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613325] Chr2:216482833 [GRCh38]
Chr2:217347556 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2265C>A (p.Ile755=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613330] Chr2:216475289 [GRCh38]
Chr2:217340012 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1096+14del deletion Schimke immuno-osseous dysplasia [RCV003611012] Chr2:216420546 [GRCh38]
Chr2:217285269 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2655A>G (p.Leu885=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613351] Chr2:216482767 [GRCh38]
Chr2:217347490 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.798C>A (p.Pro266=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613390] Chr2:216415502 [GRCh38]
Chr2:217280225 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.942C>T (p.Thr314=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613479] Chr2:216420378 [GRCh38]
Chr2:217285101 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2829T>C (p.Phe943=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611055] Chr2:216482941 [GRCh38]
Chr2:217347664 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.228C>A (p.Leu76=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611167] Chr2:216414932 [GRCh38]
Chr2:217279655 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-7T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612361] Chr2:216435331 [GRCh38]
Chr2:217300054 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1881del (p.Ser628fs) deletion Schimke immuno-osseous dysplasia [RCV003612379] Chr2:216450874 [GRCh38]
Chr2:217315597 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1578T>C (p.Ile526=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611163] Chr2:216435430 [GRCh38]
Chr2:217300153 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-5C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612362] Chr2:216435333 [GRCh38]
Chr2:217300056 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.987A>C (p.Ser329=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612365] Chr2:216420423 [GRCh38]
Chr2:217285146 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.811+9T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003855492] Chr2:216415524 [GRCh38]
Chr2:217280247 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.987A>G (p.Ser329=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612117] Chr2:216420423 [GRCh38]
Chr2:217285146 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1872C>T (p.Tyr624=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612634] Chr2:216450866 [GRCh38]
Chr2:217315589 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2775C>T (p.Thr925=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612645] Chr2:216482887 [GRCh38]
Chr2:217347610 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.273T>C (p.Ser91=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612685] Chr2:216414977 [GRCh38]
Chr2:217279700 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2625+7C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612046] Chr2:216478306 [GRCh38]
Chr2:217343029 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1683C>T (p.Arg561=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613316] Chr2:216438458 [GRCh38]
Chr2:217303181 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.862+10C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502064] Chr2:216416317 [GRCh38]
Chr2:217281040 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-14C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003851503] Chr2:216435324 [GRCh38]
Chr2:217300047 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2200_2212del (p.His734fs) deletion Schimke immuno-osseous dysplasia [RCV003613389] Chr2:216468001..216468013 [GRCh38]
Chr2:217332724..217332736 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.396G>A (p.Glu132=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612839] Chr2:216415100 [GRCh38]
Chr2:217279823 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1051C>T (p.Gln351Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502247] Chr2:216420487 [GRCh38]
Chr2:217285210 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2070+15G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611063] Chr2:216451079 [GRCh38]
Chr2:217315802 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2625+15T>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611075] Chr2:216478314 [GRCh38]
Chr2:217343037 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2071-16_2071-12del deletion Schimke immuno-osseous dysplasia [RCV003612328] Chr2:216464577..216464581 [GRCh38]
Chr2:217329300..217329304 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2226G>C (p.Thr742=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612929] Chr2:216468028 [GRCh38]
Chr2:217332751 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-17T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613521] Chr2:216428579 [GRCh38]
Chr2:217293302 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1710+12T>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612349] Chr2:216438497 [GRCh38]
Chr2:217303220 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2664G>A (p.Lys888=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611881] Chr2:216482776 [GRCh38]
Chr2:217347499 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1875A>G (p.Ser625=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612987] Chr2:216450869 [GRCh38]
Chr2:217315592 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1729C>T (p.Leu577=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611228] Chr2:216447036 [GRCh38]
Chr2:217311759 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.891C>T (p.Val297=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613014] Chr2:216420327 [GRCh38]
Chr2:217285050 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1662C>G (p.Leu554=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613060] Chr2:216438437 [GRCh38]
Chr2:217303160 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1644+12G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611314] Chr2:216435508 [GRCh38]
Chr2:217300231 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-20G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611322] Chr2:216428576 [GRCh38]
Chr2:217293299 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2340C>A (p.Ala780=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613124] Chr2:216475364 [GRCh38]
Chr2:217340087 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.645G>C (p.Thr215=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003839329] Chr2:216415349 [GRCh38]
Chr2:217280072 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1197G>A (p.Thr399=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611405] Chr2:216428645 [GRCh38]
Chr2:217293368 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2626-11C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613204] Chr2:216482727 [GRCh38]
Chr2:217347450 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-15G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003834821] Chr2:216438405 [GRCh38]
Chr2:217303128 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1096+9T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612935] Chr2:216420541 [GRCh38]
Chr2:217285264 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2271C>T (p.Gly757=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502195] Chr2:216475295 [GRCh38]
Chr2:217340018 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+11_1334+13del deletion Schimke immuno-osseous dysplasia [RCV003611838] Chr2:216428792..216428794 [GRCh38]
Chr2:217293515..217293517 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1788A>G (p.Ala596=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611870] Chr2:216447095 [GRCh38]
Chr2:217311818 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.261del (p.His87fs) deletion Schimke immuno-osseous dysplasia [RCV003611953] Chr2:216414965 [GRCh38]
Chr2:217279688 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2652C>T (p.Asp884=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502263] Chr2:216482764 [GRCh38]
Chr2:217347487 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+17T>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003812035] Chr2:216464684 [GRCh38]
Chr2:217329407 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2002C>A (p.Arg668=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502311] Chr2:216450996 [GRCh38]
Chr2:217315719 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.222G>A (p.Gln74=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612091] Chr2:216414926 [GRCh38]
Chr2:217279649 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.907G>T (p.Glu303Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613245] Chr2:216420343 [GRCh38]
Chr2:217285066 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.567G>A (p.Lys189=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613286] Chr2:216415271 [GRCh38]
Chr2:217279994 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2436C>A (p.Ile812=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613429] Chr2:216477117 [GRCh38]
Chr2:217341840 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2141+18G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611069] Chr2:216464685 [GRCh38]
Chr2:217329408 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1096+15T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612214] Chr2:216420547 [GRCh38]
Chr2:217285270 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1097_1098del (p.Asp366fs) deletion Schimke immuno-osseous dysplasia [RCV003612238] Chr2:216423633..216423634 [GRCh38]
Chr2:217288356..217288357 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.230_237del (p.Ser77fs) deletion Schimke immuno-osseous dysplasia [RCV003613503] Chr2:216414930..216414937 [GRCh38]
Chr2:217279653..217279660 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.660A>C (p.Gly220=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502427] Chr2:216415364 [GRCh38]
Chr2:217280087 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1645-2A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502435] Chr2:216438418 [GRCh38]
Chr2:217303141 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.492T>C (p.His164=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611116] Chr2:216415196 [GRCh38]
Chr2:217279919 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2071-6C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502455] Chr2:216464591 [GRCh38]
Chr2:217329314 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.126dup (p.Ala43fs) duplication Schimke immuno-osseous dysplasia [RCV003611232] Chr2:216414828..216414829 [GRCh38]
Chr2:217279551..217279552 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1701G>C (p.Pro567=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611431] Chr2:216438476 [GRCh38]
Chr2:217303199 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2077C>T (p.Gln693Ter) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612717] Chr2:216464603 [GRCh38]
Chr2:217329326 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.862+16G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502074] Chr2:216416323 [GRCh38]
Chr2:217281046 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1467G>T (p.Val489=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003836591] Chr2:216432850 [GRCh38]
Chr2:217297573 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1524C>T (p.Cys508=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611315] Chr2:216435376 [GRCh38]
Chr2:217300099 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.936C>G (p.Pro312=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612500] Chr2:216420372 [GRCh38]
Chr2:217285095 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-11T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612521] Chr2:216447007 [GRCh38]
Chr2:217311730 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1147+1G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502332] Chr2:216423684 [GRCh38]
Chr2:217288407 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2070+11G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612151] Chr2:216451075 [GRCh38]
Chr2:217315798 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.746A>G (p.Gln249Arg) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612705] Chr2:216415450 [GRCh38]
Chr2:217280173 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1851+12C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612233] Chr2:216447170 [GRCh38]
Chr2:217311893 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1746A>G (p.Pro582=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613428] Chr2:216447053 [GRCh38]
Chr2:217311776 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.366C>A (p.Ile122=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003854409] Chr2:216415070 [GRCh38]
Chr2:217279793 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2376C>G (p.Thr792=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613466] Chr2:216475400 [GRCh38]
Chr2:217340123 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1148-11C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613488] Chr2:216428585 [GRCh38]
Chr2:217293308 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2392del (p.Leu798fs) deletion Schimke immuno-osseous dysplasia [RCV003611740] Chr2:216475415 [GRCh38]
Chr2:217340138 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.2245-6C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613526] Chr2:216475263 [GRCh38]
Chr2:217339986 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-7T>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003815766] Chr2:216450839 [GRCh38]
Chr2:217315562 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1486-11G>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003832726] Chr2:216435327 [GRCh38]
Chr2:217300050 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1566C>T (p.Gly522=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611900] Chr2:216435418 [GRCh38]
Chr2:217300141 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-13dup duplication Schimke immuno-osseous dysplasia [RCV003502105] Chr2:216416243..216416244 [GRCh38]
Chr2:217280966..217280967 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2742A>G (p.Thr914=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611341] Chr2:216482854 [GRCh38]
Chr2:217347577 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2428-12C>G single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612079] Chr2:216477097 [GRCh38]
Chr2:217341820 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.426del (p.Glu142fs) deletion Schimke immuno-osseous dysplasia [RCV003612619] Chr2:216415130 [GRCh38]
Chr2:217279853 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1189_1190dup (p.Pro398fs) microsatellite Schimke immuno-osseous dysplasia [RCV003612650] Chr2:216428634..216428635 [GRCh38]
Chr2:217293357..217293358 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1446G>A (p.Leu482=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502127] Chr2:216432829 [GRCh38]
Chr2:217297552 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2071-18dup duplication Schimke immuno-osseous dysplasia [RCV003502150] Chr2:216464577..216464578 [GRCh38]
Chr2:217329300..217329301 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1710+18C>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502464] Chr2:216438503 [GRCh38]
Chr2:217303226 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.429A>G (p.Leu143=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613310] Chr2:216415133 [GRCh38]
Chr2:217279856 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2245-6del deletion Schimke immuno-osseous dysplasia [RCV003613357] Chr2:216475262 [GRCh38]
Chr2:217339985 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2529-4A>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613367] Chr2:216478199 [GRCh38]
Chr2:217342922 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1356C>A (p.Gly452=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502489] Chr2:216432739 [GRCh38]
Chr2:217297462 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2340C>G (p.Ala780=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003611018] Chr2:216475364 [GRCh38]
Chr2:217340087 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.504C>T (p.Ala168=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502208] Chr2:216415208 [GRCh38]
Chr2:217279931 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.759G>A (p.Gly253=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612934] Chr2:216415463 [GRCh38]
Chr2:217280186 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2415T>C (p.Phe805=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003502242] Chr2:216475439 [GRCh38]
Chr2:217340162 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2427+11C>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003612376] Chr2:216475462 [GRCh38]
Chr2:217340185 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1334+15T>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003613029] Chr2:216428797 [GRCh38]
Chr2:217293520 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.90A>C (p.Ala30=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003847622] Chr2:216414794 [GRCh38]
Chr2:217279517 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1711-20T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003859653] Chr2:216446998 [GRCh38]
Chr2:217311721 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1852-19G>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003866774] Chr2:216450827 [GRCh38]
Chr2:217315550 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.939C>A (p.Ser313=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003818229] Chr2:216420375 [GRCh38]
Chr2:217285098 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1710+16A>T single nucleotide variant Schimke immuno-osseous dysplasia [RCV003865445] Chr2:216438501 [GRCh38]
Chr2:217303224 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-19G>A single nucleotide variant Schimke immuno-osseous dysplasia [RCV003865448] Chr2:216416238 [GRCh38]
Chr2:217280961 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.2337G>A (p.Val779=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003860426] Chr2:216475361 [GRCh38]
Chr2:217340084 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.1710+2T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003858109] Chr2:216438487 [GRCh38]
Chr2:217303210 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_014140.4(SMARCAL1):c.2775C>G (p.Thr925=) single nucleotide variant Schimke immuno-osseous dysplasia [RCV003863228] Chr2:216482887 [GRCh38]
Chr2:217347610 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.812-4T>C single nucleotide variant Schimke immuno-osseous dysplasia [RCV003854150] Chr2:216416253 [GRCh38]
Chr2:217280976 [GRCh37]
Chr2:2q35		 likely benign
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_014140.4(SMARCAL1):c.1A>G (p.Met1Val) single nucleotide variant SMARCAL1-related disorder [RCV003894504] Chr2:216414705 [GRCh38]
Chr2:217279428 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.886del (p.Thr296fs) deletion Schimke immuno-osseous dysplasia [RCV003890762] Chr2:216420322 [GRCh38]
Chr2:217285045 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_014140.4(SMARCAL1):c.736G>A (p.Asp246Asn) single nucleotide variant SMARCAL1-related disorder [RCV003977039] Chr2:216415440 [GRCh38]
Chr2:217280163 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2023G>A (p.Ala675Thr) single nucleotide variant Inborn genetic diseases [RCV004459715] Chr2:216451017 [GRCh38]
Chr2:217315740 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1349A>G (p.Lys450Arg) single nucleotide variant Inborn genetic diseases [RCV004459711] Chr2:216432732 [GRCh38]
Chr2:217297455 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1819G>A (p.Ala607Thr) single nucleotide variant Inborn genetic diseases [RCV004459714] Chr2:216447126 [GRCh38]
Chr2:217311849 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1696A>G (p.Met566Val) single nucleotide variant Inborn genetic diseases [RCV004459712] Chr2:216438471 [GRCh38]
Chr2:217303194 [GRCh37]
Chr2:2q35		 likely benign
NM_014140.4(SMARCAL1):c.202G>A (p.Gly68Ser) single nucleotide variant Inborn genetic diseases [RCV004459716] Chr2:216414906 [GRCh38]
Chr2:217279629 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2723C>T (p.Pro908Leu) single nucleotide variant Inborn genetic diseases [RCV004459717] Chr2:216482835 [GRCh38]
Chr2:217347558 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2003G>A (p.Arg668Gln) single nucleotide variant Inborn genetic diseases [RCV004667731] Chr2:216450997 [GRCh38]
Chr2:217315720 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_217303181)_(217308995_?)del deletion Schimke immuno-osseous dysplasia [RCV004582509] Chr2:217303181..217308995 [GRCh37]
Chr2:2q35		 likely pathogenic
NC_000002.11:g.(?_217285002)_(217315807_?)dup duplication Schimke immuno-osseous dysplasia [RCV004582508] Chr2:217285002..217315807 [GRCh37]
Chr2:2q35		 likely pathogenic
NC_000002.11:g.(?_217339972)_(217343042_?)del deletion Schimke immuno-osseous dysplasia [RCV004582507] Chr2:217339972..217343042 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_217311721)_(217347700_?)del deletion Schimke immuno-osseous dysplasia [RCV004582506] Chr2:217311721..217347700 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_217339982)_(217340184_?)del deletion Schimke immuno-osseous dysplasia [RCV004582505] Chr2:217339982..217340184 [GRCh37]
Chr2:2q35		 pathogenic
NM_014140.4(SMARCAL1):c.1094A>T (p.Tyr365Phe) single nucleotide variant Inborn genetic diseases [RCV004667730] Chr2:216420530 [GRCh38]
Chr2:217285253 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2321C>G (p.Ser774Trp) single nucleotide variant not specified [RCV004699730] Chr2:216475345 [GRCh38]
Chr2:217340068 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.-59+1G>T single nucleotide variant not provided [RCV004775722] Chr2:216413893 [GRCh38]
Chr2:217278616 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.1110G>T (p.Arg370Ser) single nucleotide variant Inborn genetic diseases [RCV003379729] Chr2:216423646 [GRCh38]
Chr2:217288369 [GRCh37]
Chr2:2q35		 uncertain significance
NM_014140.4(SMARCAL1):c.2243A>C (p.Lys748Thr) single nucleotide variant Inborn genetic diseases [RCV003343429] Chr2:216468045 [GRCh38]
Chr2:217332768 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2324
Count of miRNA genes:909
Interacting mature miRNAs:1061
Transcripts:ENST00000357276, ENST00000358207, ENST00000392128, ENST00000412913, ENST00000425815, ENST00000427645, ENST00000430374, ENST00000434435, ENST00000444508, ENST00000445153, ENST00000479008, ENST00000486983, ENST00000496037
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
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
406977569GWAS626545_Hwhite matter microstructure measurement QTL GWAS626545 (human)2e-09white matter microstructure measurement2216466178216466179Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
406978662GWAS627638_Hwhite matter microstructure measurement QTL GWAS627638 (human)9e-09white matter microstructure measurement2216460594216460599Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
406977851GWAS626827_Hwhite matter microstructure measurement QTL GWAS626827 (human)4e-10white matter microstructure measurement2216466178216466179Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human

Markers in Region
G67536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,311,666 - 217,311,988UniSTSGRCh37
Build 362217,019,911 - 217,020,233RGDNCBI36
Celera2211,079,636 - 211,079,958RGD
Cytogenetic Map2q35UniSTS
HuRef2209,166,121 - 209,166,443UniSTS
G67537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,315,468 - 217,315,872UniSTSGRCh37
Build 362217,023,713 - 217,024,117RGDNCBI36
Celera2211,083,431 - 211,083,835RGD
Cytogenetic Map2q35UniSTS
HuRef2209,169,916 - 209,170,320UniSTS
G67538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,329,278 - 217,329,532UniSTSGRCh37
Build 362217,037,523 - 217,037,777RGDNCBI36
Celera2211,097,244 - 211,097,498RGD
Cytogenetic Map2q35UniSTS
HuRef2209,183,730 - 209,183,984UniSTS
G67541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,339,883 - 217,340,247UniSTSGRCh37
Build 362217,048,128 - 217,048,492RGDNCBI36
Celera2211,107,755 - 211,108,119RGD
Cytogenetic Map2q35UniSTS
HuRef2209,194,201 - 209,194,565UniSTS
G67540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,279,434 - 217,279,629UniSTSGRCh37
Build 362216,987,679 - 216,987,874RGDNCBI36
Celera2211,047,408 - 211,047,603RGD
Cytogenetic Map2q35UniSTS
HuRef2209,133,892 - 209,134,087UniSTS
G67539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,284,979 - 217,285,386UniSTSGRCh37
Build 362216,993,224 - 216,993,631RGDNCBI36
Celera2211,052,951 - 211,053,358RGD
Cytogenetic Map2q35UniSTS
HuRef2209,139,435 - 209,139,842UniSTS
G67542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,288,309 - 217,288,529UniSTSGRCh37
Build 362216,996,554 - 216,996,774RGDNCBI36
Celera2211,056,281 - 211,056,501RGD
Cytogenetic Map2q35UniSTS
HuRef2209,142,765 - 209,142,985UniSTS
G67543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,293,216 - 217,293,576UniSTSGRCh37
Build 362217,001,461 - 217,001,821RGDNCBI36
Celera2211,061,188 - 211,061,548RGD
Cytogenetic Map2q35UniSTS
HuRef2209,147,672 - 209,148,032UniSTS
G67544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,297,378 - 217,297,719UniSTSGRCh37
Build 362217,005,623 - 217,005,964RGDNCBI36
Celera2211,065,350 - 211,065,691RGD
Cytogenetic Map2q35UniSTS
HuRef2209,151,834 - 209,152,175UniSTS
RH12875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,347,467 - 217,347,646UniSTSGRCh37
Build 362217,055,712 - 217,055,891RGDNCBI36
Celera2211,115,339 - 211,115,518RGD
Cytogenetic Map2q35UniSTS
HuRef2209,201,785 - 209,201,964UniSTS
GeneMap99-GB4 RH Map2671.89UniSTS
NCBI RH Map21666.3UniSTS
SMARCAL1_2972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,347,425 - 217,347,961UniSTSGRCh37
Build 362217,055,670 - 217,056,206RGDNCBI36
Celera2211,115,297 - 211,115,833RGD
HuRef2209,201,743 - 209,202,279UniSTS


Expression

RNA-SEQ Expression