ARCL2A
MCID: CTS038
MIFTS: 47

Cutis Laxa, Autosomal Recessive, Type Iia (ARCL2A)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iia

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iia:

Name: Cutis Laxa, Autosomal Recessive, Type Iia 57 5 38 71
Cutis Laxa with Joint Laxity and Retarded Development 57 19 75 73
Arcl2a 57 11 19 73
Cutis Laxa with Growth and Developmental Delay 57 19 73
Cutis Laxa with Bone Dystrophy 57 19 73
Cutis Laxa, Debre Type 57 19 73
Cutis Laxa with Congenital Disorder of Glycosylation 57 73
Autosomal Recessive Cutis Laxa Type Iia 11 14
Arcl2 57 73
Cutis Laxa, Autosomal Recessive Type 2a 19
Cutis Laxa Autosomal Recessive Type Iia 73
Cutis Laxa, Autosomal Recessive, 2a 73
Cl Type Iia 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
skin abnormalities tend to decrease with age


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iia

OMIM®: 57 Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (219200) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iia, also known as cutis laxa with joint laxity and retarded development, is related to cutis laxa, autosomal recessive, type ia and ehlers-danlos syndrome, and has symptoms including seizures An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iia is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways are Ion channel transport and Insulin receptor recycling. Affiliated tissues include skin, bone and brain, and related phenotypes are intellectual disability and seizure

GARD: 19 A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.

UniProtKB/Swiss-Prot: 73 A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.

Disease Ontology: 11 An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

Wikipedia: 75 De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iia

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid
Cutis Laxa, Autosomal Recessive, Type Iie Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Eln-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

Diseases related to Cutis Laxa, Autosomal Recessive, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 44, show less)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 30.6 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
2 ehlers-danlos syndrome 29.7 MIA2 FBLN5 EFEMP2
3 inguinal hernia 29.6 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
4 wrinkly skin syndrome 29.5 PYCR1 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
5 cutis laxa, autosomal recessive, type iib 29.5 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 autosomal recessive cutis laxa type ii classic type 28.7 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB
7 cutis laxa 27.3 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 atp6v0a2-related cutis laxa 11.5
9 cutis laxa, autosomal recessive, type iie 11.3
10 fbln5-related cutis laxa 10.3
11 dandy-walker syndrome 10.2
12 myopia 10.2
13 connective tissue disease 10.2
14 achondrogenesis 10.1 MIA2 GORAB
15 ureteric orifice cancer 10.1 FBLN5 EFEMP2
16 cutis laxa, autosomal dominant 2 10.1 FBLN5 EFEMP2
17 leukodystrophy, hypomyelinating, 10 10.0 PYCR1 ALDH18A1
18 ehlers-danlos syndrome, vascular type 10.0 FBLN5 EFEMP2
19 macs syndrome 10.0 RIN2 FBLN5
20 retinal drusen 10.0 FBLN5 EFEMP2
21 congenital disorder of glycosylation, type in 10.0
22 classic ehlers-danlos syndrome 10.0
23 oto-palatal-digital syndrome 10.0
24 doyne honeycomb retinal dystrophy 10.0 FBLN5 EFEMP2
25 spondyloepiphyseal dysplasia tarda, x-linked 9.9 MIA2 GORAB
26 bladder diverticulum 9.8 LTBP4 FBLN5 EFEMP2
27 arterial tortuosity syndrome 9.8 LTBP4 FBLN5 EFEMP2
28 geleophysic dysplasia 9.8 LTBP4 EFEMP2
29 supravalvular aortic stenosis 9.8 LTBP4 FBLN5 EFEMP2
30 loeys-dietz syndrome 9.8 LTBP4 FBLN5 EFEMP2
31 cutis laxa, autosomal dominant 3 9.8 PYCR1 ATP6V1E1 ALDH18A1
32 aortic aneurysm 9.7 LTBP4 FBLN5 EFEMP2
33 aortic aneurysm, familial thoracic 1 9.7 LTBP4 FBLN5 EFEMP2
34 cutis laxa, autosomal recessive, type iiia 9.4 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
35 cutis laxa, autosomal dominant 1 9.3 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
36 immunodeficiency 47 9.2 PYCR1 ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
37 cutis laxa, autosomal recessive, type iiib 9.2 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
38 cutis laxa, autosomal recessive, type ic 9.2 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
39 cutis laxa, autosomal recessive, type iid 9.1 RIN2 GORAB ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
40 occipital horn syndrome 9.0 RIN2 MIA2 LTBP4 GORAB FBLN5 EFEMP2
41 autosomal recessive cutis laxa type iii 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
42 cutis laxa, autosomal recessive, type ib 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
43 autosomal recessive cutis laxa type i 8.7 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
44 geroderma osteodysplasticum 7.8 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Recessive, Type Iia:



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iia

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iia

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iia:

30 (showing 38, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 seizure 30 HP:0001250
3 failure to thrive 30 HP:0001508
4 frontal bossing 30 HP:0002007
5 scoliosis 30 HP:0002650
6 high palate 30 HP:0000218
7 hypotonia 30 HP:0001252
8 inguinal hernia 30 HP:0000023
9 carious teeth 30 HP:0000670
10 pes planus 30 HP:0001763
11 short nose 30 HP:0003196
12 microcephaly 30 HP:0000252
13 anteverted nares 30 HP:0000463
14 coarse hair 30 HP:0002208
15 feeding difficulties in infancy 30 HP:0008872
16 strabismus 30 HP:0000486
17 flat face 30 HP:0012368
18 intrauterine growth retardation 30 HP:0001511
19 low-set ears 30 HP:0000369
20 myopia 30 HP:0000545
21 lipodystrophy 30 HP:0009125
22 motor delay 30 HP:0001270
23 congenital hip dislocation 30 HP:0001374
24 joint hypermobility 30 HP:0001382
25 downslanted palpebral fissures 30 HP:0000494
26 narrow mouth 30 HP:0000160
27 dandy-walker malformation 30 HP:0001305
28 long philtrum 30 HP:0000343
29 malar flattening 30 HP:0000272
30 redundant skin 30 HP:0001582
31 midface retrusion 30 HP:0011800
32 wide anterior fontanel 30 HP:0000260
33 polymicrogyria 30 HP:0002126
34 pachygyria 30 HP:0001302
35 cutis laxa 30 HP:0000973
36 generalized hypotonia 30 HP:0001290
37 brittle hair 30 HP:0002299
38 abnormal isoelectric focusing of serum transferrin 30 HP:0003160

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Neurologic Central Nervous System:
hypotonia
dandy-walker malformation
polymicrogyria
seizures
delayed motor development
more
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
myopia
downslanting palpebral fissures

Head And Neck Ears:
low-set ears

Skin Nails Hair Skin:
cutis laxa
loose redundant skin
excessive skin folds

Head And Neck Mouth:
high-arched palate
small mouth

Head And Neck Teeth:
dental caries

Abdomen Gastrointestinal:
feeding problems in infancy

Muscle Soft Tissue:
hypotonia
lipodystrophy
abnormal distribution of subcutaneous fat

Head And Neck Nose:
short nose
anteverted nares

Skin Nails Hair Hair:
coarse hair
sparse, brittle hair

Head And Neck Face:
flat face
long philtrum
midface hypoplasia

Skeletal Pelvis:
congenital hip dislocation

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin
defect in n- and o-glycosylation

Skeletal Skull:
large anterior fontanel
delayed closure of the fontanel

Skeletal:
joint hyperextensibility

Skin Nails Hair Skin Histology:
abnormal, broken, shortened elastic fibers
decreased amount of elastin

Clinical features from OMIM®:

219200 (Updated 08-Dec-2022)

UMLS symptoms related to Cutis Laxa, Autosomal Recessive, Type Iia:


seizures

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iia

Search Clinical Trials, NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iia

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iia

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iia

Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iia:

MalaCards : Skin, Bone, Brain, Eye
ODiseA: Brain

Publications for Cutis Laxa, Autosomal Recessive, Type Iia

Articles related to Cutis Laxa, Autosomal Recessive, Type Iia:

(showing 36, show less)
# Title Authors PMID Year
1
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 62 57 5
22773132 2012
2
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 57 5
18157129 2008
3
Defective protein glycosylation in patients with cutis laxa syndrome. 57 5
15657616 2005
4
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 62 57
18716235 2008
5
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. 62 57
10406678 1999
6
Male with type II autosomal recessive cutis laxa. 62 57
8149651 1994
7
De Barsy syndrome and ATP6V0A2-CDG. 57
20010974 2010
8
Autosomal recessive cutis laxa syndrome revisited. 57
19401719 2009
9
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. 57
18819152 2008
10
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. 57
17971833 2008
11
Genetic defects in the human glycome. 57
16755287 2006
12
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 57
15107842 2004
13
Neurological involvement in a child with the wrinkly skin syndrome. 57
9916839 1999
14
Cutis laxa: a feature of Costello syndrome. 57
7512146 1994
15
Cutis laxa and the Costello syndrome. 57
8411045 1993
16
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. 57
1700609 1990
17
Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia. 57
2929668 1989
18
Congenital cutis laxa with retardation of growth and development. 57
3669050 1987
19
Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality. 57
2420495 1986
20
Variable clinical presentation of cutis laxa. 57
4064367 1985
21
Cutis laxa with intrauterine growth retardation and hip dislocation in a male. 57
565809 1978
22
Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. 57
5579863 1971
23
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A. 62
33369135 2021
24
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing 62
30474613 2019
25
[Clinical and genetic analysis of a patient with cutis laxa]. 62
29419872 2018
26
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 62
28294978 2017
27
Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells. 62
26611489 2015
28
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. 62
23963297 2014
29
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. 62
24478233 2014
30
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. 62
22611120 2012
31
NeCl2 and ArCl2: transition from direct vibrational predissociation to intramolecular vibrational relaxation and electronic nonadiabatic effects. 62
19754050 2010
32
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 62
19576563 2009
33
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 62
19321599 2009
34
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 62
18348262 2008
35
Cutis laxa with growth and developmental delay. 62
11491141 2001
36
Cutis laxa, growth retardation and hip dislocation in a Sudanese child. 62
1721795 1991

Variations for Cutis Laxa, Autosomal Recessive, Type Iia

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iia:

5 (showing 167, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) DEL Pathogenic
39452 rs1566294545 GRCh37: 12:124241423-124241429
GRCh38: 12:123756876-123756882
2 ATP6V0A2 ATP6V0A2, 1-BP INS, 100A INSERT Pathogenic
39453 GRCh37:
GRCh38:
3 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-3_2176-2del DEL Pathogenic
21496 rs367543007 GRCh37: 12:124238964-124238965
GRCh38: 12:123754417-123754418
4 ATP6V0A2 NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) DEL Pathogenic
996059 rs1956462432 GRCh37: 12:124212342-124212342
GRCh38: 12:123727795-123727795
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) DEL Pathogenic
996063 rs1956563926 GRCh37: 12:124221782-124221782
GRCh38: 12:123737235-123737235
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>A SNV Pathogenic
21499 rs80356751 GRCh37: 12:124206996-124206996
GRCh38: 12:123722449-123722449
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) SNV Pathogenic
844 rs80356758 GRCh37: 12:124239084-124239084
GRCh38: 12:123754537-123754537
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) SNV Pathogenic
845 rs80356750 GRCh37: 12:124203239-124203239
GRCh38: 12:123718692-123718692
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) DEL Likely Pathogenic
21495 rs80356756 GRCh37: 12:124233326-124233326
GRCh38: 12:123748779-123748779
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) SNV Uncertain Significance
307595 rs144946016 GRCh37: 12:124236846-124236846
GRCh38: 12:123752299-123752299
11 ATP6V0A2 NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) SNV Uncertain Significance
Uncertain Significance
307580 rs143802431 GRCh37: 12:124212422-124212422
GRCh38: 12:123727875-123727875
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) SNV Uncertain Significance
307579 rs563333869 GRCh37: 12:124209218-124209218
GRCh38: 12:123724671-123724671
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) SNV Uncertain Significance
307582 rs571403150 GRCh37: 12:124220140-124220140
GRCh38: 12:123735593-123735593
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) SNV Uncertain Significance
Uncertain Significance
307578 rs144499089 GRCh37: 12:124209215-124209215
GRCh38: 12:123724668-123724668
15 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) SNV Uncertain Significance
307586 rs372416067 GRCh37: 12:124228389-124228389
GRCh38: 12:123743842-123743842
16 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) SNV Uncertain Significance
533136 rs774276857 GRCh37: 12:124241407-124241407
GRCh38: 12:123756860-123756860
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1189+12G>T SNV Uncertain Significance
391189 rs377235629 GRCh37: 12:124228494-124228494
GRCh38: 12:123743947-123743947
18 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) SNV Uncertain Significance
883133 rs532258057 GRCh37: 12:124229247-124229247
GRCh38: 12:123744700-123744700
19 ATP6V0A2 NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) SNV Uncertain Significance
883835 rs747354658 GRCh37: 12:124210751-124210751
GRCh38: 12:123726204-123726204
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) SNV Uncertain Significance
676662 rs140835376 GRCh37: 12:124210758-124210758
GRCh38: 12:123726211-123726211
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) SNV Uncertain Significance
78884 rs181112338 GRCh37: 12:124212411-124212411
GRCh38: 12:123727864-123727864
22 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) SNV Uncertain Significance
883908 rs182439983 GRCh37: 12:124229438-124229438
GRCh38: 12:123744891-123744891
23 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) SNV Uncertain Significance
1034405 rs199698721 GRCh37: 12:124228405-124228405
GRCh38: 12:123743858-123743858
24 ATP6V0A2 NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) SNV Uncertain Significance
Uncertain Significance
390767 rs143509747 GRCh37: 12:124209328-124209328
GRCh38: 12:123724781-123724781
25 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) SNV Uncertain Significance
872301 rs777130500 GRCh37: 12:124236890-124236890
GRCh38: 12:123752343-123752343
26 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) SNV Uncertain Significance
210384 rs138886791 GRCh37: 12:124239029-124239029
GRCh38: 12:123754482-123754482
27 ATP6V0A2 NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) SNV Uncertain Significance
425021 rs752689489 GRCh37: 12:124197138-124197138
GRCh38: 12:123712591-123712591
28 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) SNV Uncertain Significance
1698977 GRCh37: 12:124241509-124241509
GRCh38: 12:123756962-123756962
29 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3684C>T SNV Uncertain Significance
884117 rs1051636200 GRCh37: 12:124246263-124246263
GRCh38: 12:123761716-123761716
30 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3707A>G SNV Uncertain Significance
884118 rs1203316393 GRCh37: 12:124246286-124246286
GRCh38: 12:123761739-123761739
31 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) SNV Uncertain Significance
307587 rs371908109 GRCh37: 12:124229479-124229479
GRCh38: 12:123744932-123744932
32 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) SNV Uncertain Significance
499896 rs768609186 GRCh37: 12:124241406-124241406
GRCh38: 12:123756859-123756859
33 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) SNV Uncertain Significance
1098631 GRCh37: 12:124235753-124235753
GRCh38: 12:123751206-123751206
34 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3368T>G SNV Uncertain Significance
882410 rs1956822109 GRCh37: 12:124245947-124245947
GRCh38: 12:123761400-123761400
35 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) SNV Uncertain Significance
883132 rs985944979 GRCh37: 12:124228881-124228881
GRCh38: 12:123744334-123744334
36 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) SNV Uncertain Significance
194085 rs532258057 GRCh37: 12:124229247-124229247
GRCh38: 12:123744700-123744700
37 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1515-12T>G SNV Uncertain Significance
883134 rs201512900 GRCh37: 12:124229417-124229417
GRCh38: 12:123744870-123744870
38 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) SNV Uncertain Significance
883191 rs775425809 GRCh37: 12:124242555-124242555
GRCh38: 12:123758008-123758008
39 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*63C>T SNV Uncertain Significance
883192 rs576086591 GRCh37: 12:124242642-124242642
GRCh38: 12:123758095-123758095
40 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3262G>A SNV Uncertain Significance
882408 rs1593929112 GRCh37: 12:124245841-124245841
GRCh38: 12:123761294-123761294
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1803C>T SNV Uncertain Significance
883247 rs117646592 GRCh37: 12:124244382-124244382
GRCh38: 12:123759835-123759835
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1950G>A SNV Uncertain Significance
883249 rs1956794312 GRCh37: 12:124244529-124244529
GRCh38: 12:123759982-123759982
43 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*575G>A SNV Uncertain Significance
883986 rs996318859 GRCh37: 12:124243154-124243154
GRCh38: 12:123758607-123758607
44 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*643C>T SNV Uncertain Significance
883987 rs377386130 GRCh37: 12:124243222-124243222
GRCh38: 12:123758675-123758675
45 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*706T>G SNV Uncertain Significance
883988 rs1288578795 GRCh37: 12:124243285-124243285
GRCh38: 12:123758738-123758738
46 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*742G>A SNV Uncertain Significance
883989 rs964496583 GRCh37: 12:124243321-124243321
GRCh38: 12:123758774-123758774
47 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2090C>T SNV Uncertain Significance
884054 rs772018611 GRCh37: 12:124244669-124244669
GRCh38: 12:123760122-123760122
48 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*191T>C SNV Uncertain Significance
307601 rs150408179 GRCh37: 12:124242770-124242770
GRCh38: 12:123758223-123758223
49 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-148C>T SNV Uncertain Significance
307575 rs886049059 GRCh37: 12:124196965-124196965
GRCh38: 12:123712418-123712418
50 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) SNV Uncertain Significance
307591 rs757775762 GRCh37: 12:124233186-124233186
GRCh38: 12:123748639-123748639
51 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) SNV Uncertain Significance
451817 rs781305219 GRCh37: 12:124221798-124221798
GRCh38: 12:123737251-123737251
52 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-10TC[2] MICROSAT Uncertain Significance
813895 rs1593920665 GRCh37: 12:124238957-124238960
GRCh38: 12:123754410-123754413
53 ATP6V0A2 NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) SNV Uncertain Significance
880542 rs377561982 GRCh37: 12:124220122-124220122
GRCh38: 12:123735575-123735575
54 ATP6V0A2 NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) SNV Uncertain Significance
880543 rs1956545181 GRCh37: 12:124220132-124220132
GRCh38: 12:123735585-123735585
55 ATP6V0A2 NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) SNV Uncertain Significance
880545 rs774118423 GRCh37: 12:124220139-124220139
GRCh38: 12:123735592-123735592
56 ATP6V0A2 NM_012463.4(ATP6V0A2):c.826-5C>T SNV Uncertain Significance
880546 rs1593903077 GRCh37: 12:124221601-124221601
GRCh38: 12:123737054-123737054
57 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-5C>G SNV Uncertain Significance
880625 rs201910056 GRCh37: 12:124238962-124238962
GRCh38: 12:123754415-123754415
58 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2759T>C SNV Uncertain Significance
880764 rs550259483 GRCh37: 12:124245338-124245338
GRCh38: 12:123760791-123760791
59 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2771A>G SNV Uncertain Significance
880765 rs1026356999 GRCh37: 12:124245350-124245350
GRCh38: 12:123760803-123760803
60 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2782C>A SNV Uncertain Significance
880766 rs183280767 GRCh37: 12:124245361-124245361
GRCh38: 12:123760814-123760814
61 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2875A>C SNV Uncertain Significance
880767 rs149741581 GRCh37: 12:124245454-124245454
GRCh38: 12:123760907-123760907
62 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-170C>A SNV Uncertain Significance
307574 rs540324717 GRCh37: 12:124196943-124196943
GRCh38: 12:123712396-123712396
63 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-114G>A SNV Uncertain Significance
881884 rs1264181324 GRCh37: 12:124196999-124196999
GRCh38: 12:123712452-123712452
64 ATP6V0A2 NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) SNV Uncertain Significance
881885 rs1956303931 GRCh37: 12:124197201-124197201
GRCh38: 12:123712654-123712654
65 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) SNV Uncertain Significance
882037 rs1414004996 GRCh37: 12:124241480-124241480
GRCh38: 12:123756933-123756933
66 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) SNV Uncertain Significance
882038 rs200933894 GRCh37: 12:124241507-124241507
GRCh38: 12:123756960-123756960
67 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1620T>A SNV Uncertain Significance
882105 rs189881056 GRCh37: 12:124244199-124244199
GRCh38: 12:123759652-123759652
68 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*271A>G SNV Uncertain Significance
307602 rs886049064 GRCh37: 12:124242850-124242850
GRCh38: 12:123758303-123758303
69 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1799A>C SNV Uncertain Significance
307619 rs755729836 GRCh37: 12:124244378-124244378
GRCh38: 12:123759831-123759831
70 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2618A>G SNV Uncertain Significance
880762 rs193208741 GRCh37: 12:124245197-124245197
GRCh38: 12:123760650-123760650
71 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2876A>T SNV Uncertain Significance
882157 rs191476665 GRCh37: 12:124245455-124245455
GRCh38: 12:123760908-123760908
72 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2929C>G SNV Uncertain Significance
882158 rs145602576 GRCh37: 12:124245508-124245508
GRCh38: 12:123760961-123760961
73 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1599C>T SNV Uncertain Significance
307614 rs534414817 GRCh37: 12:124244178-124244178
GRCh38: 12:123759631-123759631
74 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) SNV Uncertain Significance
307598 rs535703391 GRCh37: 12:124242513-124242513
GRCh38: 12:123757966-123757966
75 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*577C>T SNV Uncertain Significance
307606 rs577796265 GRCh37: 12:124243156-124243156
GRCh38: 12:123758609-123758609
76 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*434T>A SNV Uncertain Significance
307603 rs886049065 GRCh37: 12:124243013-124243013
GRCh38: 12:123758466-123758466
77 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2454T>C SNV Uncertain Significance
307629 rs776825961 GRCh37: 12:124245033-124245033
GRCh38: 12:123760486-123760486
78 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) SNV Uncertain Significance
307596 rs886049062 GRCh37: 12:124239064-124239064
GRCh38: 12:123754517-123754517
79 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3159G>A SNV Uncertain Significance
307637 rs539564846 GRCh37: 12:124245738-124245738
GRCh38: 12:123761191-123761191
80 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) SNV Uncertain Significance
307584 rs147411055 GRCh37: 12:124221818-124221818
GRCh38: 12:123737271-123737271
81 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1681G>A SNV Uncertain Significance
307617 rs575925916 GRCh37: 12:124244260-124244260
GRCh38: 12:123759713-123759713
82 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1828C>G SNV Uncertain Significance
307620 rs886049068 GRCh37: 12:124244407-124244407
GRCh38: 12:123759860-123759860
83 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3665T>G SNV Uncertain Significance
307646 rs2651 GRCh37: 12:124246244-124246244
GRCh38: 12:123761697-123761697
84 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2198C>T SNV Uncertain Significance
307626 rs886049073 GRCh37: 12:124244777-124244777
GRCh38: 12:123760230-123760230
85 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3505A>G SNV Uncertain Significance
307643 rs868846588 GRCh37: 12:124246084-124246084
GRCh38: 12:123761537-123761537
86 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1252A>G SNV Uncertain Significance
307612 rs141136421 GRCh37: 12:124243831-124243831
GRCh38: 12:123759284-123759284
87 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2833A>T SNV Uncertain Significance
307632 rs117111955 GRCh37: 12:124245412-124245412
GRCh38: 12:123760865-123760865
88 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) SNV Uncertain Significance
307592 rs886049061 GRCh37: 12:124233217-124233217
GRCh38: 12:123748670-123748670
89 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) SNV Uncertain Significance
307599 rs769901746 GRCh37: 12:124242550-124242550
GRCh38: 12:123758003-123758003
90 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) SNV Uncertain Significance
307597 rs762614200 GRCh37: 12:124241401-124241401
GRCh38: 12:123756854-123756854
91 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3269A>G SNV Uncertain Significance
307641 rs567165258 GRCh37: 12:124245848-124245848
GRCh38: 12:123761301-123761301
92 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2039C>G SNV Uncertain Significance
307621 rs886049069 GRCh37: 12:124244618-124244618
GRCh38: 12:123760071-123760071
93 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3166C>T SNV Uncertain Significance
307638 rs777687879 GRCh37: 12:124245745-124245745
GRCh38: 12:123761198-123761198
94 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2161C>G SNV Uncertain Significance
307624 rs886049071 GRCh37: 12:124244740-124244740
GRCh38: 12:123760193-123760193
95 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*709C>T SNV Uncertain Significance
307607 rs547048918 GRCh37: 12:124243288-124243288
GRCh38: 12:123758741-123758741
96 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*564T>C SNV Uncertain Significance
307604 rs886049066 GRCh37: 12:124243143-124243143
GRCh38: 12:123758596-123758596
97 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1454A>G SNV Uncertain Significance
307613 rs3748272 GRCh37: 12:124244033-124244033
GRCh38: 12:123759486-123759486
98 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1680C>T SNV Uncertain Significance
307616 rs886049067 GRCh37: 12:124244259-124244259
GRCh38: 12:123759712-123759712
99 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3042T>G SNV Uncertain Significance
307636 rs886049076 GRCh37: 12:124245621-124245621
GRCh38: 12:123761074-123761074
100 ATP6V0A2 NM_012463.4(ATP6V0A2):c.522-9G>A SNV Uncertain Significance
284399 rs189175284 GRCh37: 12:124212321-124212321
GRCh38: 12:123727774-123727774
101 ATP6V0A2 NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) SNV Uncertain Significance
880544 rs201247720 GRCh37: 12:124220137-124220137
GRCh38: 12:123735590-123735590
102 ATP6V0A2 NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) SNV Uncertain Significance
307583 rs367873118 GRCh37: 12:124221773-124221773
GRCh38: 12:123737226-123737226
103 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) SNV Uncertain Significance
284751 rs149700024 GRCh37: 12:124233163-124233163
GRCh38: 12:123748616-123748616
104 ATP6V0A2 NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) SNV Uncertain Significance
881962 rs752306671 GRCh37: 12:124221700-124221700
GRCh38: 12:123737153-123737153
105 ATP6V0A2 NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) SNV Uncertain Significance
593584 rs75746974 GRCh37: 12:124221734-124221734
GRCh38: 12:123737187-123737187
106 ATP6V0A2 NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) SNV Uncertain Significance
307577 rs139785866 GRCh37: 12:124206965-124206965
GRCh38: 12:123722418-123722418
107 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) SNV Uncertain Significance
307594 rs367950442 GRCh37: 12:124235735-124235735
GRCh38: 12:123751188-123751188
108 ATP6V0A2 NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) SNV Uncertain Significance
498312 rs139785866 GRCh37: 12:124206965-124206965
GRCh38: 12:123722418-123722418
109 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) SNV Likely Benign
95518 rs138716143 GRCh37: 12:124228816-124228816
GRCh38: 12:123744269-123744269
110 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) SNV Likely Benign
307589 rs2271659 GRCh37: 12:124232246-124232246
GRCh38: 12:123747699-123747699
111 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2294-4G>A SNV Likely Benign
676667 rs551697992 GRCh37: 12:124241358-124241358
GRCh38: 12:123756811-123756811
112 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) SNV Likely Benign
166708 rs143142641 GRCh37: 12:124229303-124229303
GRCh38: 12:123744756-123744756
113 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-117C>T SNV Likely Benign
307576 rs532360215 GRCh37: 12:124196996-124196996
GRCh38: 12:123712449-123712449
114 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*998T>C SNV Likely Benign
307609 rs12298446 GRCh37: 12:124243577-124243577
GRCh38: 12:123759030-123759030
115 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2085C>G SNV Likely Benign
307622 rs185883563 GRCh37: 12:124244664-124244664
GRCh38: 12:123760117-123760117
116 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2485C>T SNV Likely Benign
307630 rs144043973 GRCh37: 12:124245064-124245064
GRCh38: 12:123760517-123760517
117 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*785T>C SNV Likely Benign
307608 rs146660715 GRCh37: 12:124243364-124243364
GRCh38: 12:123758817-123758817
118 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+103T>C SNV Benign
1183408 GRCh37: 12:124207098-124207098
GRCh38: 12:123722551-123722551
119 ATP6V0A2 NM_012463.4(ATP6V0A2):c.649-114T>G SNV Benign
1192375 GRCh37: 12:124218359-124218359
GRCh38: 12:123733812-123733812
120 ATP6V0A2 NM_012463.4(ATP6V0A2):c.732-23T>C SNV Benign
260260 rs2271660 GRCh37: 12:124220055-124220055
GRCh38: 12:123735508-123735508
121 TCTN2, ATP6V0A2 NM_012463.4(ATP6V0A2):c.-14C>T SNV Benign
95515 rs1139320 GRCh37: 12:124197099-124197099
GRCh38: 12:123712552-123712552
122 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2329G>A SNV Benign
884055 rs113118376 GRCh37: 12:124244908-124244908
GRCh38: 12:123760361-123760361
123 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2357C>T SNV Benign
884056 rs117222175 GRCh37: 12:124244936-124244936
GRCh38: 12:123760389-123760389
124 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3654A>G SNV Benign
884116 rs77670478 GRCh37: 12:124246233-124246233
GRCh38: 12:123761686-123761686
125 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1837T>C SNV Benign
883248 rs115183932 GRCh37: 12:124244416-124244416
GRCh38: 12:123759869-123759869
126 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3357G>C SNV Benign
882409 rs7297473 GRCh37: 12:124245936-124245936
GRCh38: 12:123761389-123761389
127 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1731C>T SNV Benign
883246 rs114514797 GRCh37: 12:124244310-124244310
GRCh38: 12:123759763-123759763
128 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) SNV Benign
95517 rs79134187 GRCh37: 12:124228414-124228414
GRCh38: 12:123743867-123743867
129 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1606-12G>A SNV Benign
386006 rs112415338 GRCh37: 12:124232142-124232142
GRCh38: 12:123747595-123747595
130 ATP6V0A2 NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) SNV Benign
95523 rs1139789 GRCh37: 12:124209332-124209332
GRCh38: 12:123724785-123724785
131 ATP6V0A2 NM_012463.4(ATP6V0A2):c.432+14C>T SNV Benign
95524 rs11837144 GRCh37: 12:124209352-124209352
GRCh38: 12:123724805-123724805
132 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) SNV Benign
307593 rs73420342 GRCh37: 12:124233269-124233269
GRCh38: 12:123748722-123748722
133 ATP6V0A2 NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) SNV Benign
307581 rs73420336 GRCh37: 12:124220123-124220123
GRCh38: 12:123735576-123735576
134 ATP6V0A2 NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) SNV Benign
95525 rs1399961 GRCh37: 12:124210782-124210782
GRCh38: 12:123726235-123726235
135 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) SNV Benign
95520 rs7135542 GRCh37: 12:124229429-124229429
GRCh38: 12:123744882-123744882
136 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1039-14T>C SNV Benign
307585 rs115569365 GRCh37: 12:124228318-124228318
GRCh38: 12:123743771-123743771
137 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) SNV Benign
307588 rs80355657 GRCh37: 12:124229504-124229504
GRCh38: 12:123744957-123744957
138 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1128T>C SNV Benign
307610 rs10744162 GRCh37: 12:124243707-124243707
GRCh38: 12:123759160-123759160
139 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*115C>T SNV Benign
21498 rs367543009 GRCh37: 12:124242694-124242694
GRCh38: 12:123758147-123758147
140 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*574C>T SNV Benign
307605 rs112521789 GRCh37: 12:124243153-124243153
GRCh38: 12:123758606-123758606
141 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1064G>A SNV Benign
880700 rs7980215 GRCh37: 12:124243643-124243643
GRCh38: 12:123759096-123759096
142 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1122A>G SNV Benign
880701 rs3827881 GRCh37: 12:124243701-124243701
GRCh38: 12:123759154-123759154
143 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3167G>A SNV Benign
882159 rs112529654 GRCh37: 12:124245746-124245746
GRCh38: 12:123761199-123761199
144 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2710G>A SNV Benign
880763 rs145999411 GRCh37: 12:124245289-124245289
GRCh38: 12:123760742-123760742
145 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2646A>G SNV Benign
307631 rs77292614 GRCh37: 12:124245225-124245225
GRCh38: 12:123760678-123760678
146 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2353G>T SNV Benign
307628 rs74386589 GRCh37: 12:124244932-124244932
GRCh38: 12:123760385-123760385
147 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1205C>G SNV Benign
307611 rs6488903 GRCh37: 12:124243784-124243784
GRCh38: 12:123759237-123759237
148 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1645G>A SNV Benign
882106 rs74994957 GRCh37: 12:124244224-124244224
GRCh38: 12:123759677-123759677
149 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1600G>A SNV Benign
307615 rs58028686 GRCh37: 12:124244179-124244179
GRCh38: 12:123759632-123759632
150 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3235A>G SNV Benign
307640 rs7310965 GRCh37: 12:124245814-124245814
GRCh38: 12:123761267-123761267
151 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3227C>G SNV Benign
307639 rs111540619 GRCh37: 12:124245806-124245806
GRCh38: 12:123761259-123761259
152 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2877T>A SNV Benign
307633 rs77765053 GRCh37: 12:124245456-124245456
GRCh38: 12:123760909-123760909
153 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3603G>A SNV Benign
307645 rs73420352 GRCh37: 12:124246182-124246182
GRCh38: 12:123761635-123761635
154 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3425G>A SNV Benign
307642 rs2333834 GRCh37: 12:124246004-124246004
GRCh38: 12:123761457-123761457
155 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1693C>G SNV Benign
307618 rs10846553 GRCh37: 12:124244272-124244272
GRCh38: 12:123759725-123759725
156 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3000G>A SNV Benign
307635 rs183891010 GRCh37: 12:124245579-124245579
GRCh38: 12:123761032-123761032
157 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3553G>A SNV Benign
307644 rs73420351 GRCh37: 12:124246132-124246132
GRCh38: 12:123761585-123761585
158 ATP6V0A2 NM_012463.4(ATP6V0A2):c.117+14G>A SNV Benign
385242 rs144930749 GRCh37: 12:124197243-124197243
GRCh38: 12:123712696-123712696
159 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) SNV Benign
95521 rs17883456 GRCh37: 12:124241506-124241506
GRCh38: 12:123756959-123756959
160 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) SNV Benign
95516 rs74922060 GRCh37: 12:124221796-124221796
GRCh38: 12:123737249-123737249
161 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) SNV Benign
95522 rs75279884 GRCh37: 12:124242557-124242557
GRCh38: 12:123758010-123758010
162 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) SNV Benign
235276 rs7969410 GRCh37: 12:124235775-124235775
GRCh38: 12:123751228-123751228
163 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) SNV Not Provided
21497 rs367543008 GRCh37: 12:124241370-124241370
GRCh38: 12:123756823-123756823
164 ATP6V0A2 NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) DEL Not Provided
21500 rs80356752 GRCh37: 12:124209259-124209260
GRCh38: 12:123724712-123724713
165 ATP6V0A2 NM_012463.4(ATP6V0A2):c.732-2A>G SNV Not Provided
21501 rs80356753 GRCh37: 12:124220076-124220076
GRCh38: 12:123735529-123735529
166 ATP6V0A2 NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) DEL Not Provided
21502 rs80356754 GRCh37: 12:124221619-124221619
GRCh38: 12:123737072-123737072
167 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) SNV Not Provided
21494 rs80356755 GRCh37: 12:124228882-124228882
GRCh38: 12:123744335-123744335

Expression for Cutis Laxa, Autosomal Recessive, Type Iia

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iia.

Pathways for Cutis Laxa, Autosomal Recessive, Type Iia

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iia

Cellular components related to Cutis Laxa, Autosomal Recessive, Type Iia according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 9.73 ATP6V1E1 ATP6V1A
2 proton-transporting V-type ATPase complex GO:0033176 9.67 ATP6V1A ATP6V0A2
3 microfibril GO:0001527 9.62 LTBP4 EFEMP2
4 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.56 ATP6V1E1 ATP6V1A
5 ATPase complex GO:1904949 9.4 ATP6V1A ATP6V0A2
6 proton-transporting two-sector ATPase complex GO:0016469 9.26 ATP6V1E1 ATP6V1A
7 transmembrane transporter complex GO:1902495 9.16 ATP6V1A ATP6V0A2
8 elastic fiber GO:0071953 8.92 FBLN5 EFEMP2

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Iia according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.93 ATP6V1E1 ATP6V1A ATP6V0A2
2 vacuolar acidification GO:0007035 9.78 ATP6V1A ATP6V0A2
3 Golgi lumen acidification GO:0061795 9.71 ATP6V1A ATP6V0A2
4 regulation of macroautophagy GO:0016241 9.63 ATP6V1E1 ATP6V1A ATP6V0A2
5 cellular response to increased oxygen levels GO:0036295 9.62 ATP6V0A2 ATP6V1A
6 L-proline biosynthetic process GO:0055129 9.56 PYCR1 ALDH18A1
7 amino acid biosynthetic process GO:0008652 9.43 PYCR1 ALDH18A1
8 synaptic vesicle lumen acidification GO:0097401 9.37 ATP6V1E1 ATP6V1A
9 proline biosynthetic process GO:0006561 9.26 PYCR1 ALDH18A1
10 elastic fiber assembly GO:0048251 9.02 LTBP4 FBLN5 EFEMP2

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Iia according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.1 ATP6V1E1 ATP6V1A ATP6V0A2

Sources for Cutis Laxa, Autosomal Recessive, Type Iia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....