SDAM
MCID: SCR020
MIFTS: 40

Sacral Defect with Anterior Meningocele (SDAM)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sacral Defect with Anterior Meningocele

MalaCards integrated aliases for Sacral Defect with Anterior Meningocele:

Name: Sacral Defect with Anterior Meningocele 58 26 76 30
Caudal Regression Syndrome 58 77 26 13 6 41
Caudal Dysgenesis Syndrome 26 6 74
Sirenomelia 60 74
Sdam 58 76
Sacral Defect and Anterior Sacral Meningocele 74
Caudal Regression Sequence 26
Caudal Dysplasia Sequence 26
Sacral Agenesis Syndrome 74
Rudd Klimek Syndrome 74
Sacral Agenesis 26

Characteristics:

Orphanet epidemiological data:

60
sirenomelia
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
present at birth
considered to be a manifestation of the caudal regression syndrome
phenotypic overlap with currarino syndrome


HPO:

33
sacral defect with anterior meningocele:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600145
MESH via Orphanet 46 C538595
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C0037205
Orphanet 60 ORPHA3169

Summaries for Sacral Defect with Anterior Meningocele

OMIM : 58 Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related. (600145)

MalaCards based summary : Sacral Defect with Anterior Meningocele, also known as caudal regression syndrome, is related to sacral agenesis with vertebral anomalies and holoprosencephaly-caudal dysgenesis syndrome, and has symptoms including back pain and headache. An important gene associated with Sacral Defect with Anterior Meningocele is VANGL1 (VANGL Planar Cell Polarity Protein 1). Affiliated tissues include spinal cord, bone and pancreas, and related phenotypes are absence of the sacrum and constipation

Genetics Home Reference : 26 Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.

UniProtKB/Swiss-Prot : 76 Sacral defect with anterior meningocele: Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant.

Wikipedia : 77 Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a congenital disorder... more...

Related Diseases for Sacral Defect with Anterior Meningocele

Diseases related to Sacral Defect with Anterior Meningocele via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 82, show less)
# Related Disease Score Top Affiliating Genes
1 sacral agenesis with vertebral anomalies 12.7
2 holoprosencephaly-caudal dysgenesis syndrome 12.3
3 currarino syndrome 12.1
4 spranger schinzel myers syndrome 11.6
5 caudal regression sequence 11.6
6 selig benacerraf greene syndrome 11.5
7 neurogenic bladder 10.3
8 anencephaly 10.3
9 potter's syndrome 10.3
10 craniorachischisis 10.2
11 sirenomelia 10.2
12 vater/vacterl association 10.1
13 vacterl association 10.1
14 neural tube defects 10.1
15 meningocele 10.1
16 holoprosencephaly 10.1
17 hemifacial microsomia 10.1
18 situs inversus 10.1
19 limb-body wall complex 10.1
20 pierre robin syndrome 10.0
21 diabetes mellitus 10.0
22 alobar holoprosencephaly 10.0
23 pseudohermaphroditism 10.0
24 tracheoesophageal fistula with or without esophageal atresia 9.9
25 vacterl association with hydrocephalus 9.9
26 thoracoabdominal syndrome 9.9
27 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
28 hydrocephalus 9.9
29 esophageal atresia 9.9
30 gestational diabetes 9.9
31 oligohydramnios 9.9
32 dextrocardia 9.9
33 dextrocardia with situs inversus 9.9
34 pentalogy of cantrell 9.9
35 renal dysplasia 9.9
36 alagille syndrome 1 9.9
37 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
38 medulloblastoma 9.9
39 anus, imperforate 9.9
40 wilms tumor 5 9.9
41 neural tube defects, folate-sensitive 9.9
42 polydactyly 9.9
43 lipomyelomeningocele 9.9
44 wilms tumor 6 9.9
45 fecal incontinence 9.9
46 scoliosis 9.9
47 klippel-feil syndrome 9.9
48 hypopituitarism 9.9
49 amniotic band syndrome 9.9
50 chromosomal triplication 9.9
51 ring chromosome 7 9.9
52 talipes equinovarus 9.9
53 tethered cord syndrome 9.9
54 neurenteric cyst 9.9
55 axial mesodermal dysplasia spectrum 9.9
56 anorectal anomalies 9.9
57 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
58 lipomatosis, multiple 9.9
59 pancreas, annular 9.9
60 renal hypodysplasia/aplasia 1 9.9
61 williams-beuren syndrome 9.9
62 diastematomyelia 9.9
63 corpus callosum, partial agenesis of, x-linked 9.9
64 preaxial hallucal polydactyly 9.9
65 maturity-onset diabetes of the young 9.9
66 caudal duplication anomaly 9.9
67 myelomeningocele 9.9
68 omphalocele 9.9
69 pleomorphic lipoma 9.9
70 juvenile glaucoma 9.9
71 biliary atresia 9.9
72 spinal cord lipoma 9.9
73 constipation 9.9
74 syringomyelia 9.9
75 urethral diverticulum 9.9
76 meningitis 9.9
77 arachnoid cysts 9.9
78 split spinal cord malformation 9.9
79 myelocystocele 9.9
80 microtia 9.9
81 lobar holoprosencephaly 9.9
82 catecholaminergic polymorphic ventricular tachycardia 9.5 RYR1 VANGL1

Graphical network of the top 20 diseases related to Sacral Defect with Anterior Meningocele:



Diseases related to Sacral Defect with Anterior Meningocele

Symptoms & Phenotypes for Sacral Defect with Anterior Meningocele

Human phenotypes related to Sacral Defect with Anterior Meningocele:

60 33 (showing 22, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence of the sacrum 60 33 Very frequent (99-80%) HP:0010305
2 constipation 33 HP:0002019
3 abnormality of the cardiovascular system 60 Frequent (79-30%)
4 renal hypoplasia/aplasia 60 Very frequent (99-80%)
5 back pain 33 HP:0003418
6 meningocele 33 HP:0002435
7 headache 33 HP:0002315
8 anal atresia 60 Very frequent (99-80%)
9 spina bifida 60 Frequent (79-30%)
10 meningitis 33 HP:0001287
11 tracheoesophageal fistula 60 Frequent (79-30%)
12 ambiguous genitalia 60 Very frequent (99-80%)
13 abnormality of the urinary system 60 Very frequent (99-80%)
14 aplasia/hypoplasia of the radius 60 Frequent (79-30%)
15 sirenomelia 60 Very frequent (99-80%)
16 urinary retention 33 HP:0000016
17 neurogenic bladder 33 HP:0000011
18 hemisacrum 33 HP:0009790
19 sacral lipoma 33 HP:0012033
20 dermoid cyst 33 HP:0025247
21 rectal abscess 33 HP:0005224
22 anterior sacral meningocele 33 HP:0007293

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
back pain
hemisacrum
sacral agenesis
anterior sacral hemidefect
'scimitar' sign on x-ray
more
Genitourinary Bladder:
neurogenic bladder
urinary retention due to mass effect of meningocele
increased urinary frequency

Prenatal Manifestations Maternal:
prolonged labor
obstructed labor

Neurologic Central Nervous System:
back pain
headache
dermoid cyst
meningocele, anterior sacral
cysts tend to enlarge with age
more
Abdomen Gastrointestinal:
constipation due to mass effect of meningocele

Clinical features from OMIM:

600145

UMLS symptoms related to Sacral Defect with Anterior Meningocele:


back pain, headache

MGI Mouse Phenotypes related to Sacral Defect with Anterior Meningocele:

47 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.96 RYR1 VANGL1
2 respiratory system MP:0005388 8.62 RYR1 VANGL1

Drugs & Therapeutics for Sacral Defect with Anterior Meningocele

Search Clinical Trials , NIH Clinical Center for Sacral Defect with Anterior Meningocele

Genetic Tests for Sacral Defect with Anterior Meningocele

Genetic tests related to Sacral Defect with Anterior Meningocele:

# Genetic test Affiliating Genes
1 Sacral Defect with Anterior Meningocele 30 VANGL1

Anatomical Context for Sacral Defect with Anterior Meningocele

MalaCards organs/tissues related to Sacral Defect with Anterior Meningocele:

42
Spinal Cord, Bone, Pancreas, Kidney, Colon

Publications for Sacral Defect with Anterior Meningocele

Articles related to Sacral Defect with Anterior Meningocele:

(showing 101, show less)
# Title Authors Year
1
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. ( 30362177 )
2019
2
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. ( 29651537 )
2018
3
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. ( 28875772 )
2018
4
Caudal Regression Syndrome with Bilateral Microtia. ( 28969749 )
2017
5
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. ( 28904658 )
2017
6
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome. ( 28124993 )
2017
7
Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly. ( 28439323 )
2017
8
Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report. ( 28892975 )
2017
9
A Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report. ( 29657626 )
2017
10
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. ( 30363289 )
2017
11
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ( 25845272 )
2016
12
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney. ( 26482981 )
2016
13
Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats. ( 27727328 )
2016
14
Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients. ( 27833778 )
2016
15
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. ( 26239763 )
2015
16
In utero diagnosis of caudal regression syndrome. ( 27408660 )
2015
17
Sirenomelia and severe caudal regression syndrome. ( 25551110 )
2014
18
High abrupt cord termination: a hallmark of caudal regression syndrome. ( 24473424 )
2014
19
A case of caudal regression syndrome: walking or sitting? ( 25400859 )
2014
20
Conjoined legs: Sirenomelia or caudal regression syndrome? ( 23960288 )
2013
21
Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. ( 23652529 )
2013
22
Clinico-radiologic Findings in Group II Caudal Regression Syndrome. ( 24083063 )
2013
23
Caudal regression syndrome. ( 23445152 )
2013
24
A rare congenital malformation: caudal regression syndrome. ( 23504067 )
2013
25
Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome. ( 23560005 )
2012
26
Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity. ( 22526445 )
2012
27
Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms. ( 22761628 )
2012
28
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. ( 22995555 )
2012
29
Juvenile glaucoma in a child with caudal regression syndrome. ( 20809909 )
2011
30
Teaching NeuroImages: caudal regression syndrome. ( 22170950 )
2011
31
Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus. ( 24591990 )
2011
32
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. ( 21509087 )
2010
33
Caudal regression syndrome in one of dizygotic twins. ( 21043567 )
2010
34
Overlapping Features of Caudal Regression Syndrome and VACTERL Complex in a Neonate. ( 22953253 )
2010
35
Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. ( 19198864 )
2009
36
Recognition of caudal regression syndrome. ( 19363325 )
2009
37
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. ( 19536863 )
2009
38
Closure of the defect resulting from caudal regression syndrome with duplicated rectum. ( 19995255 )
2009
39
Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. ( 18358295 )
2008
40
Caudal regression syndrome. ( 18536840 )
2008
41
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. ( 19099562 )
2008
42
Mutations in VANGL1 associated with neural-tube defects. ( 17409324 )
2007
43
Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. ( 16949239 )
2007
44
Pre-natal diagnosis of caudal regression syndrome. ( 17686358 )
2007
45
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. ( 17968797 )
2007
46
Caudal Regression Syndrome. ( 27407981 )
2007
47
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. ( 17021725 )
2006
48
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome. ( 16463413 )
2006
49
HLXB9 homeobox gene and caudal regression syndrome. ( 16498628 )
2006
50
Caudal regression syndrome with sacral rib: MRI features. ( 17050368 )
2006
51
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. ( 15791681 )
2005
52
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. ( 16291141 )
2005
53
Anesthesia in caudal regression syndrome. ( 15675942 )
2005
54
Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome. ( 15855632 )
2005
55
Caudal regression syndrome--case report and review of literature. ( 15977017 )
2005
56
Perinatal identification of caudal regression syndrome and alobar holoprosencephaly in pregnancies with poor maternal metabolic control. ( 15658628 )
2004
57
Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother. ( 14694401 )
2004
58
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. ( 15266776 )
2004
59
Case 66: caudal regression syndrome in the fetus of a diabetic mother. ( 14695398 )
2004
60
Chiari I malformation and caudal regression syndrome: a previously unreported association. ( 12868483 )
2003
61
Infantile glaucoma and punctal atresia in a child with caudal regression syndrome. ( 12917621 )
2003
62
Caudal regression syndrome versus sirenomelia: a case report. ( 11896526 )
2002
63
Caudal Regression Syndrome in twin pregnancy with type II diabetes. ( 11896527 )
2002
64
Caudal regression syndrome: an online multicentre survey. Urological long-term results. ( 12585250 )
2002
65
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. ( 11733381 )
2001
66
Caudal regression syndrome. ( 11175945 )
2001
67
Caudal Regression Syndrome and peno-scrotal transposition. ( 11426250 )
2001
68
Prenatal diagnosis of Caudal Regression Syndrome : a case report. ( 11782287 )
2001
69
Caudal regression syndrome and annular pancreas: a rare association. ( 11045590 )
2000
70
A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst. ( 10705931 )
1999
71
Caudal regression syndrome detected in a fetus with increased nuchal translucency. ( 10422916 )
1999
72
A severe form of Caudal Regression Syndrome. ( 27605147 )
1999
73
Retinoic acid-induced caudal regression syndrome in the mouse fetus. ( 9535508 )
1998
74
Caudal regression syndrome: MR appearance. ( 9745947 )
1998
75
Early detection of caudal regression syndrome: specific interest and findings in three cases. ( 9758271 )
1998
76
Renal agenesis, ureteral ectopia into seminal vesicle, vas deferens agenesis and hemivertebra: an incomplete form of caudal regression syndrome? ( 9405995 )
1997
77
Bone scintigraphy of caudal regression syndrome. ( 8896933 )
1996
78
Multidisciplinary management of caudal regression syndrome (26 cases). ( 9008829 )
1996
79
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. ( 7977450 )
1994
80
Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. ( 7936503 )
1994
81
MR of the caudal regression syndrome: embryologic implications. ( 8073969 )
1994
82
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). ( 8126785 )
1994
83
Gram-negative meningitis and chronic constipation: an unusual presentation of caudal regression syndrome. ( 8255844 )
1993
84
Peno-scrotal transposition and the caudal regression syndrome. ( 1777496 )
1991
85
Spinal cord abnormalities in caudal regression syndrome. ( 2028749 )
1991
86
Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome? ( 2287549 )
1990
87
Early detection of caudal regression syndrome with transvaginal scanning. ( 2406664 )
1990
88
Partial transposition of the penis and scrotum with anterior urethral diverticulum in a child born with the caudal regression syndrome. ( 2627212 )
1989
89
Anatomical evaluation of the caudal regression syndrome (lumbosacral agenesis) with magnetic resonance imaging. ( 2771018 )
1989
90
Caudal regression syndrome. ( 3235183 )
1988
91
In-utero diagnosis of the caudal regression syndrome: report of three cases. ( 3134449 )
1987
92
The caudal regression syndrome in infants of diabetic mothers. ( 3304122 )
1987
93
Topics in perinatal ultrasonography. Caudal regression syndrome. ( 3332895 )
1987
94
Immature renal tissue in colonic wall of patient with caudal regression syndrome. ( 3013121 )
1986
95
Urological anomalies in the caudal regression syndrome. ( 6593030 )
1984
96
Unusual split of the spinal cord in a caudal regression syndrome with myelocystocele. ( 7168484 )
1982
97
Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case report. ( 535268 )
1979
98
Caudal regression syndrome: the urologic implications. ( 1195478 )
1975
99
A diabetic embryopathy: the caudal regression syndrome. ( 5173752 )
1971
100
Caudal dysplasia (caudal regression syndrome). ( 4247988 )
1970
101
Caudal dysplasia syndrome (caudal regression syndrome). ( 5697974 )
1968

Variations for Sacral Defect with Anterior Meningocele

UniProtKB/Swiss-Prot genetic disease variations for Sacral Defect with Anterior Meningocele:

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 VANGL1 p.Val239Ile VAR_035209 rs121918218

ClinVar genetic disease variations for Sacral Defect with Anterior Meningocele:

6 (showing 262, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 VANGL1 NM_138959.2(VANGL1): c.715G> A (p.Val239Ile) single nucleotide variant Likely pathogenic rs121918218 GRCh37 Chromosome 1, 116206792: 116206792
2 VANGL1 NM_138959.2(VANGL1): c.715G> A (p.Val239Ile) single nucleotide variant Likely pathogenic rs121918218 GRCh38 Chromosome 1, 115664171: 115664171
3 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
4 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh38 Chromosome 19, 38496283: 38496283
5 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh37 Chromosome 1, 116245551: 116245551
6 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh38 Chromosome 1, 115702930: 115702930
7 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh37 Chromosome 1, 116245533: 116245533
8 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh38 Chromosome 1, 115702912: 115702912
9 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh37 Chromosome 1, 116243877: 116243877
10 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh38 Chromosome 1, 115701256: 115701256
11 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh37 Chromosome 1, 116243868: 116243868
12 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh38 Chromosome 1, 115701247: 115701247
13 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh37 Chromosome 1, 116206512: 116206512
14 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh38 Chromosome 1, 115663891: 115663891
15 VANGL1 NM_138959.2(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 GRCh38 Chromosome 1, 115641998: 115641998
16 VANGL1 NM_138959.2(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 GRCh37 Chromosome 1, 116184619: 116184619
17 VANGL1 NM_138959.2(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 GRCh38 Chromosome 1, 115664221: 115664221
18 VANGL1 NM_138959.2(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 GRCh37 Chromosome 1, 116206842: 116206842
19 VANGL1 NM_138959.2(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 GRCh38 Chromosome 1, 115664277: 115664277
20 VANGL1 NM_138959.2(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 GRCh37 Chromosome 1, 116206898: 116206898
21 VANGL1 NM_138959.2(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 GRCh38 Chromosome 1, 115691680: 115691680
22 VANGL1 NM_138959.2(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 GRCh37 Chromosome 1, 116234301: 116234301
23 VANGL1 NM_138959.2(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 GRCh38 Chromosome 1, 115691862: 115691862
24 VANGL1 NM_138959.2(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 GRCh37 Chromosome 1, 116234483: 116234483
25 VANGL1 NM_138959.2(VANGL1): c.*929G> A single nucleotide variant Uncertain significance rs886045123 GRCh38 Chromosome 1, 115692308: 115692308
26 VANGL1 NM_138959.2(VANGL1): c.*929G> A single nucleotide variant Uncertain significance rs886045123 GRCh37 Chromosome 1, 116234929: 116234929
27 VANGL1 NM_138959.2(VANGL1): c.*1183delA deletion Likely benign rs3841008 GRCh38 Chromosome 1, 115692562: 115692562
28 VANGL1 NM_138959.2(VANGL1): c.*1183delA deletion Likely benign rs3841008 GRCh37 Chromosome 1, 116235183: 116235183
29 VANGL1 NM_138959.2(VANGL1): c.*1545A> G single nucleotide variant Uncertain significance rs117337677 GRCh38 Chromosome 1, 115692924: 115692924
30 VANGL1 NM_138959.2(VANGL1): c.*1545A> G single nucleotide variant Uncertain significance rs117337677 GRCh37 Chromosome 1, 116235545: 116235545
31 VANGL1 NM_138959.2(VANGL1): c.*2107A> G single nucleotide variant Uncertain significance rs886045130 GRCh38 Chromosome 1, 115693486: 115693486
32 VANGL1 NM_138959.2(VANGL1): c.*2107A> G single nucleotide variant Uncertain significance rs886045130 GRCh37 Chromosome 1, 116236107: 116236107
33 VANGL1 NM_138959.2(VANGL1): c.*2187T> C single nucleotide variant Likely benign rs146730302 GRCh38 Chromosome 1, 115693566: 115693566
34 VANGL1 NM_138959.2(VANGL1): c.*2187T> C single nucleotide variant Likely benign rs146730302 GRCh37 Chromosome 1, 116236187: 116236187
35 VANGL1 NM_138959.2(VANGL1): c.*2695C> A single nucleotide variant Uncertain significance rs540290490 GRCh38 Chromosome 1, 115694074: 115694074
36 VANGL1 NM_138959.2(VANGL1): c.*2695C> A single nucleotide variant Uncertain significance rs540290490 GRCh37 Chromosome 1, 116236695: 116236695
37 VANGL1 NM_138959.2(VANGL1): c.*2865A> G single nucleotide variant Uncertain significance rs114921471 GRCh38 Chromosome 1, 115694244: 115694244
38 VANGL1 NM_138959.2(VANGL1): c.*2865A> G single nucleotide variant Uncertain significance rs114921471 GRCh37 Chromosome 1, 116236865: 116236865
39 VANGL1 NM_138959.2(VANGL1): c.*2992G> A single nucleotide variant Uncertain significance rs886045135 GRCh38 Chromosome 1, 115694371: 115694371
40 VANGL1 NM_138959.2(VANGL1): c.*2992G> A single nucleotide variant Uncertain significance rs886045135 GRCh37 Chromosome 1, 116236992: 116236992
41 VANGL1 NM_138959.2(VANGL1): c.*3023G> T single nucleotide variant Likely benign rs10923204 GRCh38 Chromosome 1, 115694402: 115694402
42 VANGL1 NM_138959.2(VANGL1): c.*3023G> T single nucleotide variant Likely benign rs10923204 GRCh37 Chromosome 1, 116237023: 116237023
43 VANGL1 NM_138959.2(VANGL1): c.*3289A> G single nucleotide variant Uncertain significance rs886045136 GRCh38 Chromosome 1, 115694668: 115694668
44 VANGL1 NM_138959.2(VANGL1): c.*3289A> G single nucleotide variant Uncertain significance rs886045136 GRCh37 Chromosome 1, 116237289: 116237289
45 VANGL1 NM_138959.2(VANGL1): c.*3417C> T single nucleotide variant Likely benign rs76160883 GRCh38 Chromosome 1, 115694796: 115694796
46 VANGL1 NM_138959.2(VANGL1): c.*3417C> T single nucleotide variant Likely benign rs76160883 GRCh37 Chromosome 1, 116237417: 116237417
47 VANGL1 NM_138959.2(VANGL1): c.*3544C> T single nucleotide variant Likely benign rs74117023 GRCh38 Chromosome 1, 115694923: 115694923
48 VANGL1 NM_138959.2(VANGL1): c.*3544C> T single nucleotide variant Likely benign rs74117023 GRCh37 Chromosome 1, 116237544: 116237544
49 VANGL1 NM_138959.2(VANGL1): c.*4089delT deletion Likely benign rs138659832 GRCh38 Chromosome 1, 115695468: 115695468
50 VANGL1 NM_138959.2(VANGL1): c.*4089delT deletion Likely benign rs138659832 GRCh37 Chromosome 1, 116238089: 116238089
51 VANGL1 NM_138959.2(VANGL1): c.*5022T> G single nucleotide variant Uncertain significance rs886045145 GRCh38 Chromosome 1, 115696401: 115696401
52 VANGL1 NM_138959.2(VANGL1): c.*5022T> G single nucleotide variant Uncertain significance rs886045145 GRCh37 Chromosome 1, 116239022: 116239022
53 VANGL1 NM_138959.2(VANGL1): c.*5413A> C single nucleotide variant Uncertain significance rs886045146 GRCh37 Chromosome 1, 116239413: 116239413
54 VANGL1 NM_138959.2(VANGL1): c.*5413A> C single nucleotide variant Uncertain significance rs886045146 GRCh38 Chromosome 1, 115696792: 115696792
55 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5751A> G single nucleotide variant Likely benign rs10801933 GRCh37 Chromosome 1, 116239751: 116239751
56 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5751A> G single nucleotide variant Likely benign rs10801933 GRCh38 Chromosome 1, 115697130: 115697130
57 VANGL1 NM_138959.2(VANGL1): c.*5993C> G single nucleotide variant Uncertain significance rs886045150 GRCh38 Chromosome 1, 115697372: 115697372
58 VANGL1 NM_138959.2(VANGL1): c.*5993C> G single nucleotide variant Uncertain significance rs886045150 GRCh37 Chromosome 1, 116239993: 116239993
59 VANGL1 NM_138959.2(VANGL1): c.*6128T> C single nucleotide variant Uncertain significance rs181588954 GRCh38 Chromosome 1, 115697507: 115697507
60 VANGL1 NM_138959.2(VANGL1): c.*6128T> C single nucleotide variant Uncertain significance rs181588954 GRCh37 Chromosome 1, 116240128: 116240128
61 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*138T> C single nucleotide variant Likely benign rs28730710 GRCh37 Chromosome 1, 116243724: 116243724
62 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*138T> C single nucleotide variant Likely benign rs28730710 GRCh38 Chromosome 1, 115701103: 115701103
63 VANGL1 NM_138959.2(VANGL1): c.-145G> T single nucleotide variant Uncertain significance rs559438343 GRCh38 Chromosome 1, 115642079: 115642079
64 VANGL1 NM_138959.2(VANGL1): c.-145G> T single nucleotide variant Uncertain significance rs559438343 GRCh37 Chromosome 1, 116184700: 116184700
65 VANGL1 NM_138959.2(VANGL1): c.-24C> T single nucleotide variant Uncertain significance rs886045118 GRCh38 Chromosome 1, 115651390: 115651390
66 VANGL1 NM_138959.2(VANGL1): c.-24C> T single nucleotide variant Uncertain significance rs886045118 GRCh37 Chromosome 1, 116194011: 116194011
67 VANGL1 NM_138959.2(VANGL1): c.114C> T (p.Asp38=) single nucleotide variant Uncertain significance rs201840785 GRCh38 Chromosome 1, 115659683: 115659683
68 VANGL1 NM_138959.2(VANGL1): c.114C> T (p.Asp38=) single nucleotide variant Uncertain significance rs201840785 GRCh37 Chromosome 1, 116202304: 116202304
69 VANGL1 NM_138959.2(VANGL1): c.346G> A (p.Ala116Thr) single nucleotide variant Likely benign rs4839469 GRCh38 Chromosome 1, 115663802: 115663802
70 VANGL1 NM_138959.2(VANGL1): c.346G> A (p.Ala116Thr) single nucleotide variant Likely benign rs4839469 GRCh37 Chromosome 1, 116206423: 116206423
71 VANGL1 NM_138959.2(VANGL1): c.*47G> T single nucleotide variant Uncertain significance rs190792695 GRCh38 Chromosome 1, 115691426: 115691426
72 VANGL1 NM_138959.2(VANGL1): c.*47G> T single nucleotide variant Uncertain significance rs190792695 GRCh37 Chromosome 1, 116234047: 116234047
73 VANGL1 NM_138959.2(VANGL1): c.*300C> T single nucleotide variant Likely benign rs41310108 GRCh38 Chromosome 1, 115691679: 115691679
74 VANGL1 NM_138959.2(VANGL1): c.*300C> T single nucleotide variant Likely benign rs41310108 GRCh37 Chromosome 1, 116234300: 116234300
75 VANGL1 NM_138959.2(VANGL1): c.*313A> G single nucleotide variant Likely benign rs3811012 GRCh38 Chromosome 1, 115691692: 115691692
76 VANGL1 NM_138959.2(VANGL1): c.*313A> G single nucleotide variant Likely benign rs3811012 GRCh37 Chromosome 1, 116234313: 116234313
77 VANGL1 NM_138959.2(VANGL1): c.*383C> G single nucleotide variant Likely benign rs75277108 GRCh38 Chromosome 1, 115691762: 115691762
78 VANGL1 NM_138959.2(VANGL1): c.*383C> G single nucleotide variant Likely benign rs75277108 GRCh37 Chromosome 1, 116234383: 116234383
79 VANGL1 NM_138959.2(VANGL1): c.*634T> C single nucleotide variant Uncertain significance rs546423374 GRCh38 Chromosome 1, 115692013: 115692013
80 VANGL1 NM_138959.2(VANGL1): c.*634T> C single nucleotide variant Uncertain significance rs546423374 GRCh37 Chromosome 1, 116234634: 116234634
81 VANGL1 NM_138959.2(VANGL1): c.*1043A> G single nucleotide variant Uncertain significance rs150705915 GRCh38 Chromosome 1, 115692422: 115692422
82 VANGL1 NM_138959.2(VANGL1): c.*1043A> G single nucleotide variant Uncertain significance rs150705915 GRCh37 Chromosome 1, 116235043: 116235043
83 VANGL1 NM_138959.2(VANGL1): c.*1456T> C single nucleotide variant Uncertain significance rs886045126 GRCh38 Chromosome 1, 115692835: 115692835
84 VANGL1 NM_138959.2(VANGL1): c.*1456T> C single nucleotide variant Uncertain significance rs886045126 GRCh37 Chromosome 1, 116235456: 116235456
85 VANGL1 NM_138959.2(VANGL1): c.*1772A> G single nucleotide variant Uncertain significance rs114033235 GRCh38 Chromosome 1, 115693151: 115693151
86 VANGL1 NM_138959.2(VANGL1): c.*1772A> G single nucleotide variant Uncertain significance rs114033235 GRCh37 Chromosome 1, 116235772: 116235772
87 VANGL1 NM_138959.2(VANGL1): c.*2099G> T single nucleotide variant Uncertain significance rs886045129 GRCh38 Chromosome 1, 115693478: 115693478
88 VANGL1 NM_138959.2(VANGL1): c.*2099G> T single nucleotide variant Uncertain significance rs886045129 GRCh37 Chromosome 1, 116236099: 116236099
89 VANGL1 NM_138959.2(VANGL1): c.*2489C> T single nucleotide variant Likely benign rs41299571 GRCh38 Chromosome 1, 115693868: 115693868
90 VANGL1 NM_138959.2(VANGL1): c.*2489C> T single nucleotide variant Likely benign rs41299571 GRCh37 Chromosome 1, 116236489: 116236489
91 VANGL1 NM_138959.2(VANGL1): c.*2581G> A single nucleotide variant Likely benign rs3811008 GRCh38 Chromosome 1, 115693960: 115693960
92 VANGL1 NM_138959.2(VANGL1): c.*2581G> A single nucleotide variant Likely benign rs3811008 GRCh37 Chromosome 1, 116236581: 116236581
93 VANGL1 NM_138959.2(VANGL1): c.*3336G> A single nucleotide variant Likely benign rs61732170 GRCh38 Chromosome 1, 115694715: 115694715
94 VANGL1 NM_138959.2(VANGL1): c.*3336G> A single nucleotide variant Likely benign rs61732170 GRCh37 Chromosome 1, 116237336: 116237336
95 VANGL1 NM_138959.2(VANGL1): c.*3407dupT duplication Uncertain significance rs752251154 GRCh38 Chromosome 1, 115694786: 115694786
96 VANGL1 NM_138959.2(VANGL1): c.*3407dupT duplication Uncertain significance rs752251154 GRCh37 Chromosome 1, 116237407: 116237407
97 VANGL1 NM_138959.2(VANGL1): c.*3598A> G single nucleotide variant Uncertain significance rs187286147 GRCh38 Chromosome 1, 115694977: 115694977
98 VANGL1 NM_138959.2(VANGL1): c.*3598A> G single nucleotide variant Uncertain significance rs187286147 GRCh37 Chromosome 1, 116237598: 116237598
99 VANGL1 NM_138959.2(VANGL1): c.*3666G> A single nucleotide variant Uncertain significance rs886045138 GRCh38 Chromosome 1, 115695045: 115695045
100 VANGL1 NM_138959.2(VANGL1): c.*3666G> A single nucleotide variant Uncertain significance rs886045138 GRCh37 Chromosome 1, 116237666: 116237666
101 VANGL1 NM_138959.2(VANGL1): c.*4463A> G single nucleotide variant Uncertain significance rs886045142 GRCh38 Chromosome 1, 115695842: 115695842
102 VANGL1 NM_138959.2(VANGL1): c.*4463A> G single nucleotide variant Uncertain significance rs886045142 GRCh37 Chromosome 1, 116238463: 116238463
103 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*4478C> T single nucleotide variant Likely benign rs17034226 GRCh38 Chromosome 1, 115695857: 115695857
104 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*4478C> T single nucleotide variant Likely benign rs17034226 GRCh37 Chromosome 1, 116238478: 116238478
105 VANGL1 NM_138959.2(VANGL1): c.*4840T> C single nucleotide variant Uncertain significance rs886045144 GRCh38 Chromosome 1, 115696219: 115696219
106 VANGL1 NM_138959.2(VANGL1): c.*4840T> C single nucleotide variant Uncertain significance rs886045144 GRCh37 Chromosome 1, 116238840: 116238840
107 VANGL1 NM_138959.2(VANGL1): c.*5267G> T single nucleotide variant Uncertain significance rs75064936 GRCh38 Chromosome 1, 115696646: 115696646
108 VANGL1 NM_138959.2(VANGL1): c.*5267G> T single nucleotide variant Uncertain significance rs75064936 GRCh37 Chromosome 1, 116239267: 116239267
109 VANGL1 NM_138959.2(VANGL1): c.*5444C> G single nucleotide variant Likely benign rs142497673 GRCh37 Chromosome 1, 116239444: 116239444
110 VANGL1 NM_138959.2(VANGL1): c.*5444C> G single nucleotide variant Likely benign rs142497673 GRCh38 Chromosome 1, 115696823: 115696823
111 VANGL1 NM_138959.2(VANGL1): c.*5447_*5448delTC deletion Uncertain significance rs886045147 GRCh38 Chromosome 1, 115696826: 115696827
112 VANGL1 NM_138959.2(VANGL1): c.*5447_*5448delTC deletion Uncertain significance rs886045147 GRCh37 Chromosome 1, 116239447: 116239448
113 VANGL1 NM_138959.2(VANGL1): c.*5639_*5640delTT deletion Uncertain significance rs886045148 GRCh38 Chromosome 1, 115697018: 115697019
114 VANGL1 NM_138959.2(VANGL1): c.*5639_*5640delTT deletion Uncertain significance rs886045148 GRCh37 Chromosome 1, 116239639: 116239640
115 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5841A> T single nucleotide variant Likely benign rs4548441 GRCh37 Chromosome 1, 116239841: 116239841
116 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5841A> T single nucleotide variant Likely benign rs4548441 GRCh38 Chromosome 1, 115697220: 115697220
117 VANGL1 NM_138959.2(VANGL1): c.*5929G> A single nucleotide variant Uncertain significance rs886045149 GRCh38 Chromosome 1, 115697308: 115697308
118 VANGL1 NM_138959.2(VANGL1): c.*5929G> A single nucleotide variant Uncertain significance rs886045149 GRCh37 Chromosome 1, 116239929: 116239929
119 VANGL1 NM_138959.2(VANGL1): c.*6084C> G single nucleotide variant Uncertain significance rs536289395 GRCh38 Chromosome 1, 115697463: 115697463
120 VANGL1 NM_138959.2(VANGL1): c.*6084C> G single nucleotide variant Uncertain significance rs536289395 GRCh37 Chromosome 1, 116240084: 116240084
121 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6321T> G single nucleotide variant Likely benign rs77318780 GRCh37 Chromosome 1, 116240321: 116240321
122 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6321T> G single nucleotide variant Likely benign rs77318780 GRCh38 Chromosome 1, 115697700: 115697700
123 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6721A> G single nucleotide variant Likely benign rs17034249 GRCh38 Chromosome 1, 115698100: 115698100
124 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6721A> G single nucleotide variant Likely benign rs17034249 GRCh37 Chromosome 1, 116240721: 116240721
125 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6763dupC duplication Likely benign rs5777244 GRCh38 Chromosome 1, 115698142: 115698142
126 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6763dupC duplication Likely benign rs5777244 GRCh37 Chromosome 1, 116240763: 116240763
127 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*1123_*1124delAT deletion Likely benign rs56839330 GRCh37 Chromosome 1, 116242738: 116242739
128 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*1123_*1124delAT deletion Likely benign rs56839330 GRCh38 Chromosome 1, 115700117: 115700118
129 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*632G> C single nucleotide variant Benign/Likely benign rs1140238 GRCh37 Chromosome 1, 116243230: 116243230
130 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*632G> C single nucleotide variant Benign/Likely benign rs1140238 GRCh38 Chromosome 1, 115700609: 115700609
131 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*482C> T single nucleotide variant Benign/Likely benign rs7521023 GRCh37 Chromosome 1, 116243380: 116243380
132 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*482C> T single nucleotide variant Benign/Likely benign rs7521023 GRCh38 Chromosome 1, 115700759: 115700759
133 VANGL1 NM_138959.2(VANGL1): c.-235_-233dupCGG duplication Uncertain significance rs886045116 GRCh38 Chromosome 1, 115641989: 115641991
134 VANGL1 NM_138959.2(VANGL1): c.-235_-233dupCGG duplication Uncertain significance rs886045116 GRCh37 Chromosome 1, 116184610: 116184612
135 VANGL1 NM_138959.2(VANGL1): c.-224C> A single nucleotide variant Likely benign rs191609592 GRCh38 Chromosome 1, 115642000: 115642000
136 VANGL1 NM_138959.2(VANGL1): c.-224C> A single nucleotide variant Likely benign rs191609592 GRCh37 Chromosome 1, 116184621: 116184621
137 VANGL1 NM_138959.2(VANGL1): c.1040A> C (p.Glu347Ala) single nucleotide variant Likely benign rs34059106 GRCh38 Chromosome 1, 115684037: 115684037
138 VANGL1 NM_138959.2(VANGL1): c.1040A> C (p.Glu347Ala) single nucleotide variant Likely benign rs34059106 GRCh37 Chromosome 1, 116226658: 116226658
139 VANGL1 NM_138959.2(VANGL1): c.*95_*97delTTC deletion Uncertain significance rs746915495 GRCh38 Chromosome 1, 115691474: 115691476
140 VANGL1 NM_138959.2(VANGL1): c.*95_*97delTTC deletion Uncertain significance rs746915495 GRCh37 Chromosome 1, 116234095: 116234097
141 VANGL1 NM_138959.2(VANGL1): c.*340C> G single nucleotide variant Uncertain significance rs886045121 GRCh38 Chromosome 1, 115691719: 115691719
142 VANGL1 NM_138959.2(VANGL1): c.*340C> G single nucleotide variant Uncertain significance rs886045121 GRCh37 Chromosome 1, 116234340: 116234340
143 VANGL1 NM_138959.2(VANGL1): c.*416G> A single nucleotide variant Likely benign rs3811011 GRCh38 Chromosome 1, 115691795: 115691795
144 VANGL1 NM_138959.2(VANGL1): c.*416G> A single nucleotide variant Likely benign rs3811011 GRCh37 Chromosome 1, 116234416: 116234416
145 VANGL1 NM_138959.2(VANGL1): c.*505A> G single nucleotide variant Likely benign rs6700610 GRCh38 Chromosome 1, 115691884: 115691884
146 VANGL1 NM_138959.2(VANGL1): c.*505A> G single nucleotide variant Likely benign rs6700610 GRCh37 Chromosome 1, 116234505: 116234505
147 VANGL1 NM_138959.2(VANGL1): c.*694C> A single nucleotide variant Likely benign rs41312690 GRCh38 Chromosome 1, 115692073: 115692073
148 VANGL1 NM_138959.2(VANGL1): c.*694C> A single nucleotide variant Likely benign rs41312690 GRCh37 Chromosome 1, 116234694: 116234694
149 VANGL1 NM_138959.2(VANGL1): c.*758G> A single nucleotide variant Uncertain significance rs546932643 GRCh38 Chromosome 1, 115692137: 115692137
150 VANGL1 NM_138959.2(VANGL1): c.*758G> A single nucleotide variant Uncertain significance rs546932643 GRCh37 Chromosome 1, 116234758: 116234758
151 VANGL1 NM_138959.2(VANGL1): c.*932dupT duplication Uncertain significance rs886045124 GRCh38 Chromosome 1, 115692311: 115692311
152 VANGL1 NM_138959.2(VANGL1): c.*932dupT duplication Uncertain significance rs886045124 GRCh37 Chromosome 1, 116234932: 116234932
153 VANGL1 NM_138959.2(VANGL1): c.*1277C> T single nucleotide variant Likely benign rs3204955 GRCh38 Chromosome 1, 115692656: 115692656
154 VANGL1 NM_138959.2(VANGL1): c.*1277C> T single nucleotide variant Likely benign rs3204955 GRCh37 Chromosome 1, 116235277: 116235277
155 VANGL1 NM_138959.2(VANGL1): c.*1483C> T single nucleotide variant Uncertain significance rs886045127 GRCh38 Chromosome 1, 115692862: 115692862
156 VANGL1 NM_138959.2(VANGL1): c.*1483C> T single nucleotide variant Uncertain significance rs886045127 GRCh37 Chromosome 1, 116235483: 116235483
157 VANGL1 NM_138959.2(VANGL1): c.*1516A> C single nucleotide variant Uncertain significance rs886045128 GRCh38 Chromosome 1, 115692895: 115692895
158 VANGL1 NM_138959.2(VANGL1): c.*1516A> C single nucleotide variant Uncertain significance rs886045128 GRCh37 Chromosome 1, 116235516: 116235516
159 VANGL1 NM_138959.2(VANGL1): c.*1749G> T single nucleotide variant Likely benign rs3811010 GRCh38 Chromosome 1, 115693128: 115693128
160 VANGL1 NM_138959.2(VANGL1): c.*1749G> T single nucleotide variant Likely benign rs3811010 GRCh37 Chromosome 1, 116235749: 116235749
161 VANGL1 NM_138959.2(VANGL1): c.*1970C> A single nucleotide variant Uncertain significance rs746455152 GRCh38 Chromosome 1, 115693349: 115693349
162 VANGL1 NM_138959.2(VANGL1): c.*1970C> A single nucleotide variant Uncertain significance rs746455152 GRCh37 Chromosome 1, 116235970: 116235970
163 VANGL1 NM_138959.2(VANGL1): c.*2043C> T single nucleotide variant Likely benign rs74117021 GRCh38 Chromosome 1, 115693422: 115693422
164 VANGL1 NM_138959.2(VANGL1): c.*2043C> T single nucleotide variant Likely benign rs74117021 GRCh37 Chromosome 1, 116236043: 116236043
165 VANGL1 NM_138959.2(VANGL1): c.*2329C> T single nucleotide variant Uncertain significance rs188964296 GRCh38 Chromosome 1, 115693708: 115693708
166 VANGL1 NM_138959.2(VANGL1): c.*2329C> T single nucleotide variant Uncertain significance rs188964296 GRCh37 Chromosome 1, 116236329: 116236329
167 VANGL1 NM_138959.2(VANGL1): c.*2336A> G single nucleotide variant Uncertain significance rs148944333 GRCh38 Chromosome 1, 115693715: 115693715
168 VANGL1 NM_138959.2(VANGL1): c.*2336A> G single nucleotide variant Uncertain significance rs148944333 GRCh37 Chromosome 1, 116236336: 116236336
169 VANGL1 NM_138959.2(VANGL1): c.*2351T> G single nucleotide variant Likely benign rs12121158 GRCh38 Chromosome 1, 115693730: 115693730
170 VANGL1 NM_138959.2(VANGL1): c.*2351T> G single nucleotide variant Likely benign rs12121158 GRCh37 Chromosome 1, 116236351: 116236351
171 VANGL1 NM_138959.2(VANGL1): c.*2542C> T single nucleotide variant Uncertain significance rs886045134 GRCh38 Chromosome 1, 115693921: 115693921
172 VANGL1 NM_138959.2(VANGL1): c.*2542C> T single nucleotide variant Uncertain significance rs886045134 GRCh37 Chromosome 1, 116236542: 116236542
173 VANGL1 NM_138959.2(VANGL1): c.*3123A> G single nucleotide variant Uncertain significance rs143712039 GRCh38 Chromosome 1, 115694502: 115694502
174 VANGL1 NM_138959.2(VANGL1): c.*3123A> G single nucleotide variant Uncertain significance rs143712039 GRCh37 Chromosome 1, 116237123: 116237123
175 VANGL1 NM_138959.2(VANGL1): c.*3496T> A single nucleotide variant Likely benign rs4839472 GRCh38 Chromosome 1, 115694875: 115694875
176 VANGL1 NM_138959.2(VANGL1): c.*3496T> A single nucleotide variant Likely benign rs4839472 GRCh37 Chromosome 1, 116237496: 116237496
177 VANGL1 NM_138959.2(VANGL1): c.*3720T> C single nucleotide variant Uncertain significance rs886045139 GRCh38 Chromosome 1, 115695099: 115695099
178 VANGL1 NM_138959.2(VANGL1): c.*3720T> C single nucleotide variant Uncertain significance rs886045139 GRCh37 Chromosome 1, 116237720: 116237720
179 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*4504C> T single nucleotide variant Likely benign rs17034228 GRCh38 Chromosome 1, 115695883: 115695883
180 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*4504C> T single nucleotide variant Likely benign rs17034228 GRCh37 Chromosome 1, 116238504: 116238504
181 VANGL1 NM_138959.2(VANGL1): c.*4846G> C single nucleotide variant Uncertain significance rs868558700 GRCh38 Chromosome 1, 115696225: 115696225
182 VANGL1 NM_138959.2(VANGL1): c.*4846G> C single nucleotide variant Uncertain significance rs868558700 GRCh37 Chromosome 1, 116238846: 116238846
183 VANGL1 NM_138959.2(VANGL1): c.*5267G> A single nucleotide variant Uncertain significance rs75064936 GRCh38 Chromosome 1, 115696646: 115696646
184 VANGL1 NM_138959.2(VANGL1): c.*5267G> A single nucleotide variant Uncertain significance rs75064936 GRCh37 Chromosome 1, 116239267: 116239267
185 VANGL1 NM_138959.2(VANGL1): c.*5351G> A single nucleotide variant Uncertain significance rs762453158 GRCh37 Chromosome 1, 116239351: 116239351
186 VANGL1 NM_138959.2(VANGL1): c.*5351G> A single nucleotide variant Uncertain significance rs762453158 GRCh38 Chromosome 1, 115696730: 115696730
187 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5633T> G single nucleotide variant Likely benign rs4348723 GRCh37 Chromosome 1, 116239633: 116239633
188 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5633T> G single nucleotide variant Likely benign rs4348723 GRCh38 Chromosome 1, 115697012: 115697012
189 VANGL1 NM_138959.2(VANGL1): c.*5862G> A single nucleotide variant Uncertain significance rs868196412 GRCh38 Chromosome 1, 115697241: 115697241
190 VANGL1 NM_138959.2(VANGL1): c.*5862G> A single nucleotide variant Uncertain significance rs868196412 GRCh37 Chromosome 1, 116239862: 116239862
191 VANGL1 NM_138959.2(VANGL1): c.-171C> A single nucleotide variant Uncertain significance rs886045117 GRCh38 Chromosome 1, 115642053: 115642053
192 VANGL1 NM_138959.2(VANGL1): c.-171C> A single nucleotide variant Uncertain significance rs886045117 GRCh37 Chromosome 1, 116184674: 116184674
193 VANGL1 NM_138959.2(VANGL1): c.-115G> C single nucleotide variant Uncertain significance rs181583261 GRCh38 Chromosome 1, 115651299: 115651299
194 VANGL1 NM_138959.2(VANGL1): c.-115G> C single nucleotide variant Uncertain significance rs181583261 GRCh37 Chromosome 1, 116193920: 116193920
195 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5995A> T single nucleotide variant Likely benign rs4595366 GRCh37 Chromosome 1, 116239995: 116239995
196 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5995A> T single nucleotide variant Likely benign rs4595366 GRCh38 Chromosome 1, 115697374: 115697374
197 VANGL1 NM_138959.2(VANGL1): c.316G> A (p.Asp106Asn) single nucleotide variant Uncertain significance rs867892644 GRCh38 Chromosome 1, 115663772: 115663772
198 VANGL1 NM_138959.2(VANGL1): c.316G> A (p.Asp106Asn) single nucleotide variant Uncertain significance rs867892644 GRCh37 Chromosome 1, 116206393: 116206393
199 VANGL1 NM_138959.2(VANGL1): c.572T> C (p.Val191Ala) single nucleotide variant Uncertain significance rs781010619 GRCh38 Chromosome 1, 115664028: 115664028
200 VANGL1 NM_138959.2(VANGL1): c.572T> C (p.Val191Ala) single nucleotide variant Uncertain significance rs781010619 GRCh37 Chromosome 1, 116206649: 116206649
201 VANGL1 NM_138959.2(VANGL1): c.575T> C (p.Leu192Pro) single nucleotide variant Uncertain significance rs561312836 GRCh38 Chromosome 1, 115664031: 115664031
202 VANGL1 NM_138959.2(VANGL1): c.575T> C (p.Leu192Pro) single nucleotide variant Uncertain significance rs561312836 GRCh37 Chromosome 1, 116206652: 116206652
203 VANGL1 NM_138959.2(VANGL1): c.914A> T (p.His305Leu) single nucleotide variant Uncertain significance rs886045119 GRCh38 Chromosome 1, 115682465: 115682465
204 VANGL1 NM_138959.2(VANGL1): c.914A> T (p.His305Leu) single nucleotide variant Uncertain significance rs886045119 GRCh37 Chromosome 1, 116225086: 116225086
205 VANGL1 NM_138959.2(VANGL1): c.1045G> A (p.Glu349Lys) single nucleotide variant Uncertain significance rs778860160 GRCh38 Chromosome 1, 115684042: 115684042
206 VANGL1 NM_138959.2(VANGL1): c.1045G> A (p.Glu349Lys) single nucleotide variant Uncertain significance rs778860160 GRCh37 Chromosome 1, 116226663: 116226663
207 VANGL1 NM_138959.2(VANGL1): c.1172G> T (p.Arg391Met) single nucleotide variant Uncertain significance rs140485834 GRCh38 Chromosome 1, 115685385: 115685385
208 VANGL1 NM_138959.2(VANGL1): c.1172G> T (p.Arg391Met) single nucleotide variant Uncertain significance rs140485834 GRCh37 Chromosome 1, 116228006: 116228006
209 VANGL1 NM_138959.2(VANGL1): c.*83T> A single nucleotide variant Likely benign rs3811013 GRCh38 Chromosome 1, 115691462: 115691462
210 VANGL1 NM_138959.2(VANGL1): c.*83T> A single nucleotide variant Likely benign rs3811013 GRCh37 Chromosome 1, 116234083: 116234083
211 VANGL1 NM_138959.2(VANGL1): c.*217C> T single nucleotide variant Likely benign rs41299565 GRCh38 Chromosome 1, 115691596: 115691596
212 VANGL1 NM_138959.2(VANGL1): c.*217C> T single nucleotide variant Likely benign rs41299565 GRCh37 Chromosome 1, 116234217: 116234217
213 VANGL1 NM_138959.2(VANGL1): c.*707C> T single nucleotide variant Likely benign rs562969850 GRCh38 Chromosome 1, 115692086: 115692086
214 VANGL1 NM_138959.2(VANGL1): c.*707C> T single nucleotide variant Likely benign rs562969850 GRCh37 Chromosome 1, 116234707: 116234707
215 VANGL1 NM_138959.2(VANGL1): c.*1042C> A single nucleotide variant Uncertain significance rs886045125 GRCh38 Chromosome 1, 115692421: 115692421
216 VANGL1 NM_138959.2(VANGL1): c.*1042C> A single nucleotide variant Uncertain significance rs886045125 GRCh37 Chromosome 1, 116235042: 116235042
217 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6026G> A single nucleotide variant Likely benign rs6428677 GRCh37 Chromosome 1, 116240026: 116240026
218 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6026G> A single nucleotide variant Likely benign rs6428677 GRCh38 Chromosome 1, 115697405: 115697405
219 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6212C> T single nucleotide variant Likely benign rs3811006 GRCh37 Chromosome 1, 116240212: 116240212
220 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6212C> T single nucleotide variant Likely benign rs3811006 GRCh38 Chromosome 1, 115697591: 115697591
221 VANGL1 NM_138959.2(VANGL1): c.*1627A> G single nucleotide variant Likely benign rs149888685 GRCh38 Chromosome 1, 115693006: 115693006
222 VANGL1 NM_138959.2(VANGL1): c.*1627A> G single nucleotide variant Likely benign rs149888685 GRCh37 Chromosome 1, 116235627: 116235627
223 VANGL1 NM_138959.2(VANGL1): c.*1749G> A single nucleotide variant Uncertain significance rs3811010 GRCh38 Chromosome 1, 115693128: 115693128
224 VANGL1 NM_138959.2(VANGL1): c.*1749G> A single nucleotide variant Uncertain significance rs3811010 GRCh37 Chromosome 1, 116235749: 116235749
225 VANGL1 NM_138959.2(VANGL1): c.*6474T> G single nucleotide variant Uncertain significance rs886045152 GRCh38 Chromosome 1, 115697853: 115697853
226 VANGL1 NM_138959.2(VANGL1): c.*6474T> G single nucleotide variant Uncertain significance rs886045152 GRCh37 Chromosome 1, 116240474: 116240474
227 VANGL1 NM_138959.2(VANGL1): c.*6602C> T single nucleotide variant Uncertain significance rs886045153 GRCh38 Chromosome 1, 115697981: 115697981
228 VANGL1 NM_138959.2(VANGL1): c.*6602C> T single nucleotide variant Uncertain significance rs886045153 GRCh37 Chromosome 1, 116240602: 116240602
229 VANGL1 NM_138959.2(VANGL1): c.*2116A> T single nucleotide variant Uncertain significance rs886045131 GRCh38 Chromosome 1, 115693495: 115693495
230 VANGL1 NM_138959.2(VANGL1): c.*2116A> T single nucleotide variant Uncertain significance rs886045131 GRCh37 Chromosome 1, 116236116: 116236116
231 VANGL1 NM_138959.2(VANGL1): c.*2460C> T single nucleotide variant Uncertain significance rs886045132 GRCh38 Chromosome 1, 115693839: 115693839
232 VANGL1 NM_138959.2(VANGL1): c.*2460C> T single nucleotide variant Uncertain significance rs886045132 GRCh37 Chromosome 1, 116236460: 116236460
233 VANGL1 NM_138959.2(VANGL1): c.*2541G> A single nucleotide variant Uncertain significance rs886045133 GRCh38 Chromosome 1, 115693920: 115693920
234 VANGL1 NM_138959.2(VANGL1): c.*2541G> A single nucleotide variant Uncertain significance rs886045133 GRCh37 Chromosome 1, 116236541: 116236541
235 VANGL1 NM_138959.2(VANGL1): c.*6640G> A single nucleotide variant Uncertain significance rs746958675 GRCh38 Chromosome 1, 115698019: 115698019
236 VANGL1 NM_138959.2(VANGL1): c.*6640G> A single nucleotide variant Uncertain significance rs746958675 GRCh37 Chromosome 1, 116240640: 116240640
237 VANGL1 NM_138959.2(VANGL1): c.*3770_*3773delCAAA deletion Likely benign rs144395099 GRCh38 Chromosome 1, 115695149: 115695152
238 VANGL1 NM_138959.2(VANGL1): c.*3770_*3773delCAAA deletion Likely benign rs144395099 GRCh37 Chromosome 1, 116237770: 116237773
239 VANGL1 NM_138959.2(VANGL1): c.*4676C> G single nucleotide variant Uncertain significance rs886045143 GRCh38 Chromosome 1, 115696055: 115696055
240 VANGL1 NM_138959.2(VANGL1): c.*4676C> G single nucleotide variant Uncertain significance rs886045143 GRCh37 Chromosome 1, 116238676: 116238676
241 VANGL1 NM_138959.2(VANGL1): c.*4731C> T single nucleotide variant Uncertain significance rs144489409 GRCh38 Chromosome 1, 115696110: 115696110
242 VANGL1 NM_138959.2(VANGL1): c.*4731C> T single nucleotide variant Uncertain significance rs144489409 GRCh37 Chromosome 1, 116238731: 116238731
243 VANGL1 NM_138959.2(VANGL1): c.*5066C> G single nucleotide variant Uncertain significance rs751663783 GRCh38 Chromosome 1, 115696445: 115696445
244 VANGL1 NM_138959.2(VANGL1): c.*5066C> G single nucleotide variant Uncertain significance rs751663783 GRCh37 Chromosome 1, 116239066: 116239066
245 VANGL1 NM_138959.2(VANGL1): c.*5132G> T single nucleotide variant Uncertain significance rs549041171 GRCh38 Chromosome 1, 115696511: 115696511
246 VANGL1 NM_138959.2(VANGL1): c.*5132G> T single nucleotide variant Uncertain significance rs549041171 GRCh37 Chromosome 1, 116239132: 116239132
247 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5266C> T single nucleotide variant Likely benign rs17034230 GRCh38 Chromosome 1, 115696645: 115696645
248 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5266C> T single nucleotide variant Likely benign rs17034230 GRCh37 Chromosome 1, 116239266: 116239266
249 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5368G> A single nucleotide variant Likely benign rs10494179 GRCh37 Chromosome 1, 116239368: 116239368
250 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*5368G> A single nucleotide variant Likely benign rs10494179 GRCh38 Chromosome 1, 115696747: 115696747
251 VANGL1 NM_138959.2(VANGL1): c.*5466G> A single nucleotide variant Uncertain significance rs192325588 GRCh38 Chromosome 1, 115696845: 115696845
252 VANGL1 NM_138959.2(VANGL1): c.*5466G> A single nucleotide variant Uncertain significance rs192325588 GRCh37 Chromosome 1, 116239466: 116239466
253 VANGL1 NM_138959.2(VANGL1): c.*5808C> T single nucleotide variant Uncertain significance rs184708484 GRCh38 Chromosome 1, 115697187: 115697187
254 VANGL1 NM_138959.2(VANGL1): c.*5808C> T single nucleotide variant Uncertain significance rs184708484 GRCh37 Chromosome 1, 116239808: 116239808
255 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6199A> T single nucleotide variant Likely benign rs3811007 GRCh37 Chromosome 1, 116240199: 116240199
256 CASQ2; VANGL1 NM_138959.2(VANGL1): c.*6199A> T single nucleotide variant Likely benign rs3811007 GRCh38 Chromosome 1, 115697578: 115697578
257 VANGL1 NM_138959.2(VANGL1): c.*6360C> T single nucleotide variant Uncertain significance rs886045151 GRCh38 Chromosome 1, 115697739: 115697739
258 VANGL1 NM_138959.2(VANGL1): c.*6360C> T single nucleotide variant Uncertain significance rs886045151 GRCh37 Chromosome 1, 116240360: 116240360
259 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*1017delA deletion Likely benign rs11347859 GRCh37 Chromosome 1, 116242845: 116242845
260 CASQ2; VANGL1 NM_001232.3(CASQ2): c.*1017delA deletion Likely benign rs11347859 GRCh38 Chromosome 1, 115700224: 115700224
261 VANGL1 NC_000001.11: g.115701098C> T single nucleotide variant Likely benign rs28730709 GRCh37 Chromosome 1, 116243719: 116243719
262 VANGL1 NC_000001.11: g.115701098C> T single nucleotide variant Likely benign rs28730709 GRCh38 Chromosome 1, 115701098: 115701098

Expression for Sacral Defect with Anterior Meningocele

Search GEO for disease gene expression data for Sacral Defect with Anterior Meningocele.

Pathways for Sacral Defect with Anterior Meningocele

GO Terms for Sacral Defect with Anterior Meningocele

Biological processes related to Sacral Defect with Anterior Meningocele according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 RYR1 VANGL1

Sources for Sacral Defect with Anterior Meningocele

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