ATP6V0A2 (ATPase H+ transporting V0 subunit a2) - Rat Genome Database

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Gene: ATP6V0A2 (ATPase H+ transporting V0 subunit a2) Homo sapiens
Analyze
Symbol: ATP6V0A2
Name: ATPase H+ transporting V0 subunit a2
RGD ID: 1320849
HGNC Page HGNC:18481
Description: Predicted to enable ATPase binding activity. Involved in cellular response to increased oxygen levels and intracellular iron ion homeostasis. Located in focal adhesion; intracellular membrane-bounded organelle; and plasma membrane. Implicated in autosomal recessive cutis laxa type IIA and wrinkly skin syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A2; a2V; A2V-ATPase; ARCL; ARCL2A; ATP6A2; ATP6N1D; ATPase, H+ transporting, lysosomal V0 subunit a2; J6B7; lysosomal H(+)-transporting ATPase V0 subunit a 2; lysosomal H(+)-transporting ATPase V0 subunit a2; regeneration and tolerance factor; RTF; STV1; TJ6; TJ6M; TJ6S; v-ATPase 116 kDa; V-ATPase 116 kDa subunit a 2; V-ATPase 116 kDa subunit a2; V-ATPase subunit a2; v-type proton ATPase 116 kDa subunit a; V-type proton ATPase 116 kDa subunit a 2; V-type proton ATPase 116 kDa subunit a isoform 2; V-type proton ATPase 116 kDa subunit a2; vacuolar proton translocating ATPase 116 kDa subunit a; VPH1; WSS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812123,712,353 - 123,761,755 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12123,712,353 - 123,761,755 (+)EnsemblGRCh38hg38GRCh38
GRCh3712124,196,900 - 124,246,302 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612122,762,818 - 122,810,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412122,721,744 - 122,769,321NCBI
Celera12123,793,121 - 123,842,693 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12121,158,054 - 121,207,491 (+)NCBIHuRef
CHM1_112124,017,815 - 124,067,195 (+)NCBICHM1_1
T2T-CHM13v2.012123,711,219 - 123,760,679 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cheek morphology  (IAGP)
Abnormal circulating apolipoprotein concentration  (IAGP)
Abnormal isoelectric focusing of serum transferrin  (IAGP)
Abnormal subcutaneous fat tissue distribution  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of the intrinsic pathway  (IAGP)
Anteverted nares  (IAGP)
Atrial septal dilatation  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Brittle hair  (IAGP)
Broad nasal tip  (IAGP)
Carious teeth  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Coarse hair  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Coxa vara  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased muscle mass  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Downslanted palpebral fissures  (IAGP)
Emphysema  (IAGP)
Epicanthus  (IAGP)
Excessive skin wrinkling on dorsum of hands and fingers  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat face  (IAGP)
Fragile nails  (IAGP)
Fragmented elastic fibers in the dermis  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint hypermobility  (IAGP)
Global developmental delay  (IAGP)
High myopia  (IAGP)
High nonceruloplasmin-bound serum copper  (IAGP)
High palate  (IAGP)
Hypernasal speech  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the musculature  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lipodystrophy  (IAGP)
Lissencephaly  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Microretrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Multiple palmar creases  (IAGP)
Multiple plantar creases  (IAGP)
Muscular ventricular septal defect  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Neonatal wrinkled skin of hands and feet  (IAGP)
Osteopenia  (IAGP)
Pachygyria  (IAGP)
Palmoplantar cutis laxa  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Polymicrogyria  (IAGP)
Poor speech  (IAGP)
Postnatal growth retardation  (IAGP)
Premature rupture of membranes  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive microcephaly  (IAGP)
Prominent nasolabial fold  (IAGP)
Prominent veins on trunk  (IAGP)
Psychomotor deterioration  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Redundant neck skin  (IAGP)
Redundant skin  (IAGP)
Scaphocephaly  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short nail  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Slender long bone  (IAGP)
Slender long bones with narrow diaphyses  (IAGP)
Slurred speech  (IAGP)
Small, conical teeth  (IAGP)
Smooth philtrum  (IAGP)
Sparse hair  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Subretinal pigment epithelium hemorrhage  (IAGP)
Talipes equinovarus  (IAGP)
Thick cerebral cortex  (IAGP)
Thick hair  (IAGP)
Umbilical hernia  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2247090   PMID:2874839   PMID:11836511   PMID:12477932   PMID:12788495   PMID:14580332   PMID:14597263   PMID:14702039   PMID:15301855   PMID:15358640   PMID:15373763   PMID:16027165  
PMID:16113235   PMID:16344560   PMID:16415858   PMID:17081983   PMID:17295899   PMID:17662945   PMID:17897319   PMID:18029348   PMID:18157129   PMID:19171192   PMID:19321599   PMID:19322201  
PMID:19401719   PMID:20153292   PMID:20301755   PMID:20669186   PMID:21178005   PMID:21307348   PMID:21873635   PMID:22479202   PMID:22773132   PMID:22939629   PMID:22982048   PMID:23936208  
PMID:24815019   PMID:25877929   PMID:26186194   PMID:26418877   PMID:26496610   PMID:26611489   PMID:26638075   PMID:26899534   PMID:27244671   PMID:27342126   PMID:27809299   PMID:27845385  
PMID:28296633   PMID:28298427   PMID:28514442   PMID:28692057   PMID:29311258   PMID:29952037   PMID:30474613   PMID:30550884   PMID:31056421   PMID:31343991   PMID:31527615   PMID:31871319  
PMID:31925882   PMID:31995728   PMID:32001091   PMID:32614325   PMID:32694731   PMID:33065002   PMID:33144569   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34857952   PMID:35271311  
PMID:35559673   PMID:35696571   PMID:35844135   PMID:36180527   PMID:36215168   PMID:36476874   PMID:36610398   PMID:37119015   PMID:38270169   PMID:38396846   PMID:38598037   PMID:38878854  


Genomics

Comparative Map Data
ATP6V0A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812123,712,353 - 123,761,755 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12123,712,353 - 123,761,755 (+)EnsemblGRCh38hg38GRCh38
GRCh3712124,196,900 - 124,246,302 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612122,762,818 - 122,810,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412122,721,744 - 122,769,321NCBI
Celera12123,793,121 - 123,842,693 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12121,158,054 - 121,207,491 (+)NCBIHuRef
CHM1_112124,017,815 - 124,067,195 (+)NCBICHM1_1
T2T-CHM13v2.012123,711,219 - 123,760,679 (+)NCBIT2T-CHM13v2.0
Atp6v0a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395124,767,117 - 124,801,519 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5124,766,641 - 124,801,519 (+)EnsemblGRCm39 Ensembl
GRCm385124,629,052 - 124,724,455 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5124,628,576 - 124,724,455 (+)EnsemblGRCm38mm10GRCm38
MGSCv375125,079,648 - 125,097,437 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv375125,192,573 - 125,202,524 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365125,001,189 - 125,011,627 (+)NCBIMGSCv36mm8
Celera5121,704,480 - 121,735,509 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map563.7NCBI
Atp6v0a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81237,608,211 - 37,640,860 (-)NCBIGRCr8
mRatBN7.21231,947,220 - 31,979,875 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1231,822,733 - 32,007,069 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1233,129,001 - 33,158,515 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01233,740,320 - 33,769,838 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01232,792,188 - 32,821,709 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01237,368,321 - 37,398,233 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1237,363,906 - 37,425,596 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01239,238,423 - 39,269,298 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,061,611 - 33,092,421 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11232,941,066 - 32,949,116 (-)NCBI
Celera1233,639,711 - 33,670,024 (-)NCBICelera
Cytogenetic Map12q15NCBI
Atp6v0a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554825,311,434 - 5,337,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554825,311,434 - 5,337,684 (-)NCBIChiLan1.0ChiLan1.0
ATP6V0A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210131,787,497 - 131,834,937 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112131,783,904 - 131,831,213 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012121,297,959 - 121,343,294 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112125,522,886 - 125,569,858 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12125,522,886 - 125,569,858 (+)Ensemblpanpan1.1panPan2
ATP6V0A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1265,911,319 - 5,952,773 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl265,912,887 - 5,952,306 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha266,074,169 - 6,115,619 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0266,161,361 - 6,202,794 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl266,162,010 - 6,229,946 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1266,094,884 - 6,136,318 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0266,187,243 - 6,228,453 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0266,140,432 - 6,181,874 (-)NCBIUU_Cfam_GSD_1.0
Atp6v0a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118158,344,853 - 158,374,799 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365581,103,135 - 1,134,573 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365581,104,627 - 1,138,487 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP6V0A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1429,250,405 - 29,297,683 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11429,250,400 - 29,297,697 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21430,944,213 - 30,989,982 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP6V0A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111119,042,465 - 119,095,380 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11119,042,525 - 119,097,450 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037126,179,187 - 126,233,498 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp6v0a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474723,471,403 - 23,504,576 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474723,471,697 - 23,501,018 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP6V0A2
593 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV000020683] Chr12:123744335 [GRCh38]
Chr12:124228882 [GRCh37]
Chr12:12q24.31
pathogenic|not provided
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) deletion Cutis laxa with osteodystrophy [RCV000020684] Chr12:123748779 [GRCh38]
Chr12:124233326 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del deletion Cutis laxa with osteodystrophy [RCV000020685] Chr12:123754417..123754418 [GRCh38]
Chr12:124238964..124238965 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) single nucleotide variant Cutis laxa with osteodystrophy [RCV000020686] Chr12:123756823 [GRCh38]
Chr12:124241370 [GRCh37]
Chr12:12q24.31
benign|not provided
NM_012463.4(ATP6V0A2):c.*115C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000020687] Chr12:123758147 [GRCh38]
Chr12:124242694 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.294+1G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000020688]|Wrinkly skin syndrome [RCV000000889] Chr12:123722449 [GRCh38]
Chr12:124206996 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) deletion Cutis laxa with osteodystrophy [RCV000020689] Chr12:123724712..123724713 [GRCh38]
Chr12:124209259..124209260 [GRCh37]
Chr12:12q24.31
pathogenic|not provided
NM_012463.4(ATP6V0A2):c.732-2A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502507]|Cutis laxa with osteodystrophy [RCV000020690]|not provided [RCV002281042] Chr12:123735529 [GRCh38]
Chr12:124220076 [GRCh37]
Chr12:12q24.31
pathogenic|not provided
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) deletion Cutis laxa with osteodystrophy [RCV000020691] Chr12:123737072 [GRCh38]
Chr12:124221619 [GRCh37]
Chr12:12q24.31
pathogenic|not provided
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) deletion Cutis laxa with osteodystrophy [RCV000032647] Chr12:123756876..123756882 [GRCh38]
Chr12:124241423..124241429 [GRCh37]
Chr12:12q24.31
pathogenic
ATP6V0A2, 1-BP INS, 100A insertion Cutis laxa with osteodystrophy [RCV000032648] Chr12:12q24.3 pathogenic
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV000000887] Chr12:123754537 [GRCh38]
Chr12:124239084 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502506]|Cutis laxa [RCV004579513]|Cutis laxa with osteodystrophy [RCV000000888]|Cutis laxa with osteodystrophy [RCV005007801]|not provided [RCV000790836] Chr12:123718692 [GRCh38]
Chr12:124203239 [GRCh37]
Chr12:12q24.31
pathogenic
ATP6V0A2, 10132G-A single nucleotide variant Wrinkly skin syndrome [RCV000000889] Chr12:12q24.3 pathogenic
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000640158]|Cutis laxa with osteodystrophy [RCV001111400] Chr12:123756860 [GRCh38]
Chr12:124241407 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001078478]|not provided [RCV000728258] Chr12:123737073 [GRCh38]
Chr12:124221620 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000012.12:g.123712122T>C single nucleotide variant not provided [RCV001564696] Chr12:123712122 [GRCh38]
Chr12:124196669 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001412196]|Cutis laxa with osteodystrophy [RCV001111307]|not provided [RCV000728672] Chr12:123737187 [GRCh38]
Chr12:124221734 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002064054]|ATP6V0A2-related disorder [RCV003935681]|not specified [RCV000605764] Chr12:123735567 [GRCh38]
Chr12:124220114 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp) single nucleotide variant not provided [RCV000519336] Chr12:123727849 [GRCh38]
Chr12:124212396 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002527632]|Cutis laxa with osteodystrophy [RCV000763804]|Inborn genetic diseases [RCV004678730]|not provided [RCV000520087] Chr12:123737251 [GRCh38]
Chr12:124221798 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met) single nucleotide variant not specified [RCV000518196] Chr12:123744671 [GRCh38]
Chr12:124229218 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1 copy number loss See cases [RCV000051345] Chr12:122985202..130714574 [GRCh38]
Chr12:123469749..131199119 [GRCh37]
Chr12:122035702..129765072 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 copy number gain See cases [RCV000051151] Chr12:123444758..133191400 [GRCh38]
Chr12:123929305..133767986 [GRCh37]
Chr12:122495258..132278059 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|See cases [RCV000053693] Chr12:123365769..133191400 [GRCh38]
Chr12:123850316..133767986 [GRCh37]
Chr12:122416269..132278059 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002054920]|Cutis laxa with osteodystrophy [RCV001114577] Chr12:123727864 [GRCh38]
Chr12:124212411 [GRCh37]
Chr12:122778364 [NCBI36]
Chr12:12q24.31
benign|uncertain significance|not provided
NM_012463.4(ATP6V0A2):c.-14C>T single nucleotide variant Cutis Laxa, Recessive [RCV000339426]|Cutis laxa with osteodystrophy [RCV001111206]|Familial aplasia of the vermis [RCV000305731]|Meckel-Gruber syndrome [RCV000407551]|not provided [RCV004703229]|not specified [RCV000081542] Chr12:123712552 [GRCh38]
Chr12:124197099 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000536694]|Cutis laxa with osteodystrophy [RCV000362304]|not provided [RCV000224904]|not specified [RCV000081543] Chr12:123737249 [GRCh38]
Chr12:124221796 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001079902]|Cutis laxa with osteodystrophy [RCV000283557]|not provided [RCV000224475]|not specified [RCV000081544] Chr12:123743867 [GRCh38]
Chr12:124228414 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001079380]|ATP6V0A2-related disorder [RCV003915081]|Cutis laxa with osteodystrophy [RCV001113315]|not provided [RCV000864597]|not specified [RCV000081545] Chr12:123744269 [GRCh38]
Chr12:124228816 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.1514+1G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502514]|Cutis laxa with osteodystrophy [RCV002498429]|not provided [RCV000174367] Chr12:123744785 [GRCh38]
Chr12:124229332 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001516703]|Cutis laxa with osteodystrophy [RCV000374481]|Wrinkly skin syndrome [RCV001554140]|not provided [RCV004706498]|not specified [RCV000081547] Chr12:123744882 [GRCh38]
Chr12:124229429 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000538030]|Cutis laxa with osteodystrophy [RCV000358680]|not provided [RCV004706499]|not specified [RCV000081549] Chr12:123756959 [GRCh38]
Chr12:124241506 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001514987]|Cutis laxa with osteodystrophy [RCV000371563]|not provided [RCV004706500]|not specified [RCV000081550] Chr12:123758010 [GRCh38]
Chr12:123758010..123758011 [GRCh38]
Chr12:124242557 [GRCh37]
Chr12:124242557..124242558 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001516700]|Cutis laxa with osteodystrophy [RCV000394212]|Wrinkly skin syndrome [RCV001553943]|not provided [RCV004707939]|not specified [RCV000081551] Chr12:123724785 [GRCh38]
Chr12:124209332 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.432+14C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001516701]|Cutis laxa with osteodystrophy [RCV000298475]|Wrinkly skin syndrome [RCV001553944]|not provided [RCV004706501]|not specified [RCV000081552] Chr12:123724805 [GRCh38]
Chr12:124209352 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001516702]|Cutis laxa with osteodystrophy [RCV000369580]|Wrinkly skin syndrome [RCV001553945]|not provided [RCV004706502]|not specified [RCV000081553] Chr12:123726235 [GRCh38]
Chr12:124210782 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.825+2T>C single nucleotide variant not provided [RCV000180309] Chr12:123735626 [GRCh38]
Chr12:124220173 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del deletion not specified [RCV000176091] Chr12:123757912..123757913 [GRCh38]
Chr12:124242459..124242460 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter) single nucleotide variant not provided [RCV000178289] Chr12:123724663 [GRCh38]
Chr12:124209210 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) deletion Cutis laxa with osteodystrophy [RCV001290336] Chr12:123727795 [GRCh38]
Chr12:124212342 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002516628]|Cutis laxa with osteodystrophy [RCV001113318]|Inborn genetic diseases [RCV002517675]|not provided [RCV000174366] Chr12:123744700 [GRCh38]
Chr12:124229247 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3 copy number gain See cases [RCV000134900] Chr12:123509825..123975309 [GRCh38]
Chr12:123994372..124459856 [GRCh37]
Chr12:122560325..123025809 [NCBI36]
Chr12:12q24.31
uncertain significance
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 copy number gain See cases [RCV000135535] Chr12:123509825..133191400 [GRCh38]
Chr12:123994372..133767986 [GRCh37]
Chr12:122560325..132278059 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001087624]|ATP6V0A2-related disorder [RCV003907567]|Cutis Laxa, Recessive [RCV000364298]|not provided [RCV000724863] Chr12:123754473 [GRCh38]
Chr12:124239020 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32
pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 copy number loss See cases [RCV000143250] Chr12:121917758..127802717 [GRCh38]
Chr12:122355664..128287262 [GRCh37]
Chr12:120840047..126853215 [NCBI36]
Chr12:12q24.31-24.32
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001088927]|ATP6V0A2-related disorder [RCV003895048]|Cutis laxa with osteodystrophy [RCV000322153]|Inborn genetic diseases [RCV003338429]|not provided [RCV000723907]|not specified [RCV000194414] Chr12:123744756 [GRCh38]
Chr12:124229303 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001088570]|ATP6V0A2-related disorder [RCV003917736]|Cutis laxa with osteodystrophy [RCV001109061]|not provided [RCV000871111]|not specified [RCV000195070] Chr12:123754482 [GRCh38]
Chr12:124239029 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.522-9G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002059154]|ATP6V0A2-related disorder [RCV003920076]|Cutis laxa with osteodystrophy [RCV000399420]|not provided [RCV000277913] Chr12:123727774 [GRCh38]
Chr12:124212321 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001089165]|ATP6V0A2-related disorder [RCV003919901]|Cutis laxa with osteodystrophy [RCV001109058]|not provided [RCV000224010]|not specified [RCV000419132] Chr12:123751228 [GRCh38]
Chr12:124235775 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001057289]|Cutis laxa with osteodystrophy [RCV000352754]|not provided [RCV000725521]|not specified [RCV001820821] Chr12:123748616 [GRCh38]
Chr12:124233163 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.482T>G (p.Leu161Trp) single nucleotide variant not provided [RCV000513755] Chr12:123726246 [GRCh38]
Chr12:124210793 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.732-23T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV001554138]|Wrinkly skin syndrome [RCV001554139]|not provided [RCV001689863]|not specified [RCV000248627] Chr12:123735508 [GRCh38]
Chr12:124220055 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*1600G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000300917]|not provided [RCV004708242] Chr12:123759632 [GRCh38]
Chr12:124244179 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002056276]|ATP6V0A2-related disorder [RCV003967885]|Cutis laxa with osteodystrophy [RCV000394202]|not provided [RCV000884990] Chr12:123722418 [GRCh38]
Chr12:124206965 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*2646A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000394243] Chr12:123760678 [GRCh38]
Chr12:124245225 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*1205C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000395958] Chr12:123759237 [GRCh38]
Chr12:124243784 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*3665T>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000282625] Chr12:123761697 [GRCh38]
Chr12:124246244 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1039-14T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002056278]|Cutis laxa with osteodystrophy [RCV000322890]|not provided [RCV004708240]|not specified [RCV000426196] Chr12:123743771 [GRCh38]
Chr12:124228318 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*785T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000395960] Chr12:123758817 [GRCh38]
Chr12:124243364 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*3235A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000266180]|not provided [RCV004706915] Chr12:123761267 [GRCh38]
Chr12:124245814 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*3159G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000269552] Chr12:123761191 [GRCh38]
Chr12:124245738 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*998T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000303399] Chr12:123759030 [GRCh38]
Chr12:124243577 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.*1252A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000304256] Chr12:123759284 [GRCh38]
Chr12:124243831 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3603G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000371515]|not provided [RCV004706917] Chr12:123761635 [GRCh38]
Chr12:124246182 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) single nucleotide variant Cutis laxa with osteodystrophy [RCV000397985]|Inborn genetic diseases [RCV002520796] Chr12:123748639 [GRCh38]
Chr12:124233186 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3505A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000285088] Chr12:123761537 [GRCh38]
Chr12:124246084 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003765807]|Cutis laxa with osteodystrophy [RCV000270186] Chr12:123737271 [GRCh38]
Chr12:124221818 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.-170C>A single nucleotide variant Cutis Laxa, Recessive [RCV000325607]|Cutis laxa with osteodystrophy [RCV001111204] Chr12:123712396 [GRCh38]
Chr12:124196943 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*709C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000347720] Chr12:123758741 [GRCh38]
Chr12:124243288 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.-117C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000286699] Chr12:123712449 [GRCh38]
Chr12:124196996 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*577C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000288240] Chr12:123758609 [GRCh38]
Chr12:124243156 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002520795]|ATP6V0A2-related disorder [RCV003897705]|Cutis laxa with osteodystrophy [RCV000328554]|not provided [RCV001697658] Chr12:123737226 [GRCh38]
Chr12:124221773 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001850627]|Cutis laxa with osteodystrophy [RCV000271126] Chr12:123735593 [GRCh38]
Chr12:124220140 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3166C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000329366] Chr12:123761198 [GRCh38]
Chr12:124245745 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1693C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000330111]|not provided [RCV004708243] Chr12:123759725 [GRCh38]
Chr12:124244272 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*191T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000331687]|not provided [RCV001582945] Chr12:123758223 [GRCh38]
Chr12:124242770 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*1454A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000354384] Chr12:123759486 [GRCh38]
Chr12:124244033 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3425G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000380607]|not provided [RCV004706916] Chr12:123761457 [GRCh38]
Chr12:124246004 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001057370]|Cutis laxa with osteodystrophy [RCV000380335]|Inborn genetic diseases [RCV004965396]|not provided [RCV000522764] Chr12:123743842 [GRCh38]
Chr12:124228389 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000865321]|Cutis laxa with osteodystrophy [RCV000401678]|not provided [RCV001718625] Chr12:123751188 [GRCh38]
Chr12:124235735 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*1681G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000275077] Chr12:123759713 [GRCh38]
Chr12:124244260 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3000G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000314254] Chr12:123761032 [GRCh38]
Chr12:124245579 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*1599C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000259548] Chr12:123759631 [GRCh38]
Chr12:124244178 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2485C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000338585] Chr12:123760517 [GRCh38]
Chr12:124245064 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*3553G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000316824]|not provided [RCV004708244] Chr12:123761585 [GRCh38]
Chr12:124246132 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) single nucleotide variant ATP6V0A2-related disorder [RCV003940172]|Cutis laxa with osteodystrophy [RCV000261650] Chr12:123757966 [GRCh38]
Chr12:124242513 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*2454T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000297711] Chr12:123760486 [GRCh38]
Chr12:124245033 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002522225]|Cutis laxa with osteodystrophy [RCV000282196]|Cutis laxa with osteodystrophy [RCV002502211]|not provided [RCV002272210] Chr12:123744932 [GRCh38]
Chr12:124229479 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000872370]|Cutis laxa with osteodystrophy [RCV000365310]|not specified [RCV000434512] Chr12:123748722 [GRCh38]
Chr12:124233269 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*3227C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000365499]|not provided [RCV004706914] Chr12:123761259 [GRCh38]
Chr12:124245806 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*2877T>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000367430]|not provided [RCV004706913] Chr12:123760909 [GRCh38]
Chr12:124245456 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001348420]|Cutis laxa with osteodystrophy [RCV000280712]|Cutis laxa with osteodystrophy [RCV000763801]|Inborn genetic diseases [RCV004965395]|not provided [RCV000767074]|not specified [RCV000439999] Chr12:123724668 [GRCh38]
Chr12:124209215 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) single nucleotide variant Cutis laxa with osteodystrophy [RCV000319194]|not provided [RCV001764276] Chr12:123758003 [GRCh38]
Chr12:124242550 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002520797]|Cutis laxa with osteodystrophy [RCV000320280]|Cutis laxa with osteodystrophy [RCV002494961]|not provided [RCV001582944] Chr12:123756854 [GRCh38]
Chr12:124241401 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3269A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000321388] Chr12:123761301 [GRCh38]
Chr12:124245848 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000872369]|Cutis laxa with osteodystrophy [RCV000368021]|not provided [RCV004708239]|not specified [RCV000424244] Chr12:123735576 [GRCh38]
Chr12:124220123 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) duplication ALG9 congenital disorder of glycosylation [RCV000689436]|Cutis laxa [RCV002265727]|Cutis laxa with osteodystrophy [RCV005008254]|not provided [RCV000599054] Chr12:123712642..123712643 [GRCh38]
Chr12:124197189..124197190 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_012463.4(ATP6V0A2):c.*2353G>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000394260] Chr12:123760385 [GRCh38]
Chr12:124244932 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*2198C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000283059] Chr12:123760230 [GRCh38]
Chr12:124244777 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000873262]|Cutis laxa with osteodystrophy [RCV000397995]|not provided [RCV001697741] Chr12:123747699 [GRCh38]
Chr12:124232246 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*60dup duplication Cutis Laxa, Recessive [RCV000262548] Chr12:123758089..123758090 [GRCh38]
Chr12:124242636..124242637 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001859843]|Cutis laxa with osteodystrophy [RCV000307371]|Cutis laxa with osteodystrophy [RCV002487367]|not provided [RCV001653512] Chr12:123752299 [GRCh38]
Chr12:124236846 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002059192]|not provided [RCV000317767] Chr12:123744728 [GRCh38]
Chr12:124229275 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001859640]|Inborn genetic diseases [RCV004021193]|not provided [RCV000353417] Chr12:123743794 [GRCh38]
Chr12:124228341 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1828C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000275733] Chr12:123759860 [GRCh38]
Chr12:124244407 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000872211]|Cutis laxa with osteodystrophy [RCV000310903]|Cutis laxa with osteodystrophy [RCV000763803]|Inborn genetic diseases [RCV004021535]|not provided [RCV001705460]|not specified [RCV000493630] Chr12:123727875 [GRCh38]
Chr12:124212422 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*2085C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000380794] Chr12:123760117 [GRCh38]
Chr12:124244664 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002519224]|not provided [RCV000289008] Chr12:123733929 [GRCh38]
Chr12:124218476 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2984_*2986del deletion Cutis Laxa, Recessive [RCV000277620] Chr12:123761014..123761016 [GRCh38]
Chr12:124245561..124245563 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2833A>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000312715] Chr12:123760865 [GRCh38]
Chr12:124245412 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000557036]|ATP6V0A2-related disorder [RCV004757203]|Cutis laxa with osteodystrophy [RCV000334860]|not provided [RCV001705461]|not specified [RCV000421499] Chr12:123744957 [GRCh38]
Chr12:124229504 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.*574C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000382600]|not provided [RCV004708241] Chr12:123758606 [GRCh38]
Chr12:124243153 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.3(ATP6V0A2):c.-227A>G single nucleotide variant Cutis Laxa, Recessive [RCV000383636]|not provided [RCV000838619] Chr12:123712339 [GRCh38]
Chr12:124196886 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001088720]|ATP6V0A2-related disorder [RCV003957452]|not provided [RCV000399908] Chr12:123744888 [GRCh38]
Chr12:124229435 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002056277]|Cutis laxa with osteodystrophy [RCV000338336]|not provided [RCV000910841] Chr12:123724671 [GRCh38]
Chr12:124209218 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) single nucleotide variant Cutis laxa with osteodystrophy [RCV000267400]|not provided [RCV001770245] Chr12:123754517 [GRCh38]
Chr12:124239064 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1128T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000339651]|not provided [RCV004706912] Chr12:123759160 [GRCh38]
Chr12:124243707 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*1799A>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000388835] Chr12:123759831 [GRCh38]
Chr12:124244378 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr) single nucleotide variant not provided [RCV003221740] Chr12:123752347 [GRCh38]
Chr12:124236894 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) single nucleotide variant not provided [RCV000523731] Chr12:123735578 [GRCh38]
Chr12:124220125 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002525989]|Cutis laxa with osteodystrophy [RCV001111207]|Cutis laxa with osteodystrophy [RCV005010401]|Inborn genetic diseases [RCV002527000]|not provided [RCV000488263] Chr12:123712591 [GRCh38]
Chr12:124197138 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2128_*2129del deletion Cutis Laxa, Recessive [RCV000291376] Chr12:123760159..123760160 [GRCh38]
Chr12:124244706..124244707 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.3(ATP6V0A2):c.-243C>A single nucleotide variant Cutis Laxa, Recessive [RCV000331533] Chr12:123712323 [GRCh38]
Chr12:124196870 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2161C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000346281] Chr12:123760193 [GRCh38]
Chr12:124244740 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3042T>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000364215] Chr12:123761074 [GRCh38]
Chr12:124245621 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.-148C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000382496] Chr12:123712418 [GRCh38]
Chr12:124196965 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*271A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000386176] Chr12:123758303 [GRCh38]
Chr12:124242850 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_024809.5(TCTN2):c.*155G>A single nucleotide variant Cutis Laxa, Recessive [RCV000380838]|Joubert syndrome 24 [RCV000348184]|Meckel syndrome, type 8 [RCV000395659]|not provided [RCV001660608] Chr12:123707868 [GRCh38]
Chr12:124192415 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1724+20del deletion ALG9 congenital disorder of glycosylation [RCV002056279]|Cutis Laxa, Recessive [RCV000295227]|not provided [RCV001653511] Chr12:123747737 [GRCh38]
Chr12:124232284 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*564T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV000351389] Chr12:123758596 [GRCh38]
Chr12:124243143 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_024809.5(TCTN2):c.*468C>T single nucleotide variant Cutis Laxa, Recessive [RCV000384445]|Joubert syndrome 24 [RCV000332774]|Meckel syndrome, type 8 [RCV000261262]|not provided [RCV004706911] Chr12:123708181 [GRCh38]
Chr12:124192728 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*434T>A single nucleotide variant Cutis laxa with osteodystrophy [RCV000296453] Chr12:123758466 [GRCh38]
Chr12:124243013 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_024809.5(TCTN2):c.*330_*331insACTC insertion Cutis Laxa, Recessive [RCV000288832]|Familial aplasia of the vermis [RCV000261726]|Meckel-Gruber syndrome [RCV000358743]|not provided [RCV001527870] Chr12:123708040..123708041 [GRCh38]
Chr12:124192587..124192588 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000698250]|not provided [RCV003151782]|not specified [RCV000518290] Chr12:123756905 [GRCh38]
Chr12:124241452 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*1680C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV000355737] Chr12:123759712 [GRCh38]
Chr12:124244259 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_024809.5(TCTN2):c.*67C>T single nucleotide variant Cutis Laxa, Recessive [RCV000275897]|Joubert syndrome 24 [RCV001110368]|Meckel syndrome, type 8 [RCV001110369]|not provided [RCV001561676] Chr12:123707780 [GRCh38]
Chr12:124192327 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*2039C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV000326148] Chr12:123760071 [GRCh38]
Chr12:124244618 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.3(ATP6V0A2):c.-222C>G single nucleotide variant Cutis Laxa, Recessive [RCV000291555]|Familial aplasia of the vermis [RCV000340470]|Meckel-Gruber syndrome [RCV000283085]|not provided [RCV001597065] Chr12:123712344 [GRCh38]
Chr12:124196891 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.*2344_*2346dup duplication Cutis Laxa, Recessive [RCV000342083] Chr12:123760374..123760375 [GRCh38]
Chr12:124244921..124244922 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) single nucleotide variant Cutis Laxa, Recessive [RCV000329652]|Familial aplasia of the vermis [RCV000205050]|Joubert syndrome 24 [RCV001114402]|Meckel syndrome, type 8 [RCV001114401]|not provided [RCV004703234]|not specified [RCV000114228] Chr12:123707660 [GRCh38]
Chr12:124192207 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_024809.5(TCTN2):c.*87C>T single nucleotide variant Cutis Laxa, Recessive [RCV000333334]|Joubert syndrome 24 [RCV000290937]|Meckel syndrome, type 8 [RCV000387583]|not provided [RCV001618538] Chr12:123707800 [GRCh38]
Chr12:124192347 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) single nucleotide variant Cutis laxa with osteodystrophy [RCV000313038] Chr12:123748670 [GRCh38]
Chr12:124233217 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2186_*2189del deletion Cutis Laxa, Recessive [RCV000377536] Chr12:123760215..123760218 [GRCh38]
Chr12:124244762..124244765 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_024809.5(TCTN2):c.*45G>A single nucleotide variant Cutis Laxa, Recessive [RCV000386465]|Familial aplasia of the vermis [RCV000296694]|Joubert syndrome 24 [RCV001114403]|Meckel syndrome, type 8 [RCV001114404]|Meckel-Gruber syndrome [RCV000349350]|not provided [RCV001562790] Chr12:123707758 [GRCh38]
Chr12:124192305 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_024809.5(TCTN2):c.*412T>C single nucleotide variant Cutis Laxa, Recessive [RCV000346228]|Joubert syndrome 24 [RCV000353110]|Meckel syndrome, type 8 [RCV000300538]|not provided [RCV004705238] Chr12:123708125 [GRCh38]
Chr12:124192672 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) single nucleotide variant Cutis laxa with osteodystrophy [RCV001332966]|not provided [RCV000591771] Chr12:123756859 [GRCh38]
Chr12:124241406 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu) single nucleotide variant not provided [RCV000523013] Chr12:123751204 [GRCh38]
Chr12:124235751 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.295-17C>A single nucleotide variant not specified [RCV000604433] Chr12:123724637 [GRCh38]
Chr12:124209184 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1936-7C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001078731]|not provided [RCV000841760] Chr12:123751103 [GRCh38]
Chr12:124235650 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.118-7_118-3del deletion ALG9 congenital disorder of glycosylation [RCV001868941]|not provided [RCV000729315] Chr12:123718616..123718620 [GRCh38]
Chr12:124203163..124203167 [GRCh37]
Chr12:12q24.31
conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.1852A>G (p.Arg618Gly) single nucleotide variant not specified [RCV000413466] Chr12:123748702 [GRCh38]
Chr12:124233249 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001850997]|not specified [RCV000413672] Chr12:123754490 [GRCh38]
Chr12:124239037 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31-24.32(chr12:122726807-127365912)x1 copy number loss See cases [RCV000449178] Chr12:122726807..127365912 [GRCh37]
Chr12:12q24.31-24.32
likely pathogenic
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003105907]|not specified [RCV000434225] Chr12:123735594 [GRCh38]
Chr12:124220141 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr) single nucleotide variant not provided [RCV000431133] Chr12:123737201 [GRCh38]
Chr12:124221748 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.117+14G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002059001]|Cutis laxa with osteodystrophy [RCV001113216]|not provided [RCV001720235] Chr12:123712696 [GRCh38]
Chr12:124197243 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met) single nucleotide variant Inborn genetic diseases [RCV004965452]|not provided [RCV000434722] Chr12:123727865 [GRCh38]
Chr12:124212412 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1724+20T>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003766422]|not specified [RCV000438251] Chr12:123747745 [GRCh38]
Chr12:124232292 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001851065]|not provided [RCV000418070] Chr12:123744727 [GRCh38]
Chr12:124229274 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1606-12G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001517104]|Cutis laxa with osteodystrophy [RCV001114687]|not provided [RCV004707249]|not specified [RCV000421277] Chr12:123747595 [GRCh38]
Chr12:124232142 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002063336]|ATP6V0A2-related disorder [RCV003902573]|not provided [RCV003884527]|not specified [RCV000421320] Chr12:123744755 [GRCh38]
Chr12:124229302 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001865370]|Inborn genetic diseases [RCV004022431]|not provided [RCV000425347] Chr12:123751144 [GRCh38]
Chr12:124235691 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000797679]|not provided [RCV000422153] Chr12:123726279 [GRCh38]
Chr12:124210826 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002521668]|not provided [RCV000440387] Chr12:123751179 [GRCh38]
Chr12:124235726 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001861625]|Cutis laxa with osteodystrophy [RCV000763802]|Cutis laxa with osteodystrophy [RCV001113218]|not provided [RCV000729905]|not specified [RCV000423155] Chr12:123724781 [GRCh38]
Chr12:124209328 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.1189+12G>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002063585]|Cutis laxa with osteodystrophy [RCV001113314]|not specified [RCV000433780] Chr12:123743947 [GRCh38]
Chr12:124228494 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002525504]|not specified [RCV000420559] Chr12:123756829 [GRCh38]
Chr12:124241376 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002521753]|not specified [RCV000423417] Chr12:123744722 [GRCh38]
Chr12:124229269 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002526950]|ATP6V0A2-related disorder [RCV003915336]|not provided [RCV000483300] Chr12:123724747 [GRCh38]
Chr12:124209294 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.522-13del deletion ALG9 congenital disorder of glycosylation [RCV002063757]|not provided [RCV001704622] Chr12:123727768 [GRCh38]
Chr12:124212315 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003766724]|not provided [RCV000487324] Chr12:123735563 [GRCh38]
Chr12:124220110 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_012463.4(ATP6V0A2):c.548G>A (p.Gly183Glu) single nucleotide variant not specified [RCV000504303] Chr12:123727809 [GRCh38]
Chr12:124212356 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1147G>A (p.Val383Met) single nucleotide variant not specified [RCV000502507] Chr12:123743893 [GRCh38]
Chr12:124228440 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002056828]|not provided [RCV000498620] Chr12:123743815 [GRCh38]
Chr12:124228362 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001085019]|Cutis laxa with osteodystrophy [RCV001113217]|not provided [RCV000726817] Chr12:123722418 [GRCh38]
Chr12:124206965 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.196+15T>G single nucleotide variant not specified [RCV000605649] Chr12:123718716 [GRCh38]
Chr12:124203263 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.803C>G (p.Thr268Ser) single nucleotide variant Inborn genetic diseases [RCV003291090] Chr12:123735602 [GRCh38]
Chr12:124220149 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.521+14C>G single nucleotide variant not specified [RCV000601696] Chr12:123726299 [GRCh38]
Chr12:124210846 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1327-16G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002065290]|Cutis laxa with osteodystrophy [RCV002491267]|not specified [RCV000601741] Chr12:123744581 [GRCh38]
Chr12:124229128 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002529481]|not specified [RCV000615259] Chr12:123744226 [GRCh38]
Chr12:124228773 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002064269]|not provided [RCV001698098] Chr12:123756861 [GRCh38]
Chr12:124241408 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002531635]|not provided [RCV001719039] Chr12:123737086 [GRCh38]
Chr12:124221633 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2056-14C>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002063225]|not specified [RCV000615789] Chr12:123752269 [GRCh38]
Chr12:124236816 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.521+17G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003767552]|not specified [RCV000616110] Chr12:123726302 [GRCh38]
Chr12:124210849 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=) single nucleotide variant not specified [RCV000607822] Chr12:123737073 [GRCh38]
Chr12:124221620 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002531503]|not specified [RCV000607960] Chr12:123757930 [GRCh38]
Chr12:124242477 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003767631]|not provided [RCV000611514] Chr12:123756888 [GRCh38]
Chr12:124241435 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1039-13G>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002064382]|not provided [RCV001704794] Chr12:123743772 [GRCh38]
Chr12:124228319 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.979G>C (p.Glu327Gln) single nucleotide variant Inborn genetic diseases [RCV003266578] Chr12:123737212 [GRCh38]
Chr12:124221759 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.117+17_117+20delinsTCT indel not specified [RCV000604354] Chr12:123712699..123712702 [GRCh38]
Chr12:124197246..124197249 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) single nucleotide variant Inborn genetic diseases [RCV004024861]|not provided [RCV000594358] Chr12:123744893 [GRCh38]
Chr12:124229440 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.732-3C>T single nucleotide variant not provided [RCV001712632] Chr12:123735528 [GRCh38]
Chr12:124220075 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002538811]|not provided [RCV001760599] Chr12:123733935 [GRCh38]
Chr12:124218482 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:124097565-124462296)x3 copy number gain not provided [RCV000683425] Chr12:124097565..124462296 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609167]|not provided [RCV000710655] Chr12:123737247 [GRCh38]
Chr12:124221794 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001078886]|ATP6V0A2-related disorder [RCV003965460]|not provided [RCV000710656] Chr12:123735572 [GRCh38]
Chr12:124220119 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12q24.31(chr12:122706844-124294517)x3 copy number gain not provided [RCV000738079] Chr12:122706844..124294517 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=) single nucleotide variant not provided [RCV000938768] Chr12:123754464 [GRCh38]
Chr12:124239011 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001866001]|not provided [RCV001566384] Chr12:123756815 [GRCh38]
Chr12:124241362 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1039-94C>A single nucleotide variant not provided [RCV001548414] Chr12:123743691 [GRCh38]
Chr12:124228238 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.432+230C>T single nucleotide variant not provided [RCV001725625] Chr12:123725021 [GRCh38]
Chr12:124209568 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.892C>T (p.Arg298Cys) single nucleotide variant not provided [RCV000761847] Chr12:123737125 [GRCh38]
Chr12:124221672 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001866019]|not provided [RCV001569974] Chr12:123743857 [GRCh38]
Chr12:124228404 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001859371]|Cutis laxa with osteodystrophy [RCV002476854]|Inborn genetic diseases [RCV002570691]|not provided [RCV001551431] Chr12:123727800 [GRCh38]
Chr12:124212347 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3654A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001115015] Chr12:123761686 [GRCh38]
Chr12:124246233 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.432+251T>C single nucleotide variant not provided [RCV001566331] Chr12:123725042 [GRCh38]
Chr12:124209589 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2175+267G>A single nucleotide variant not provided [RCV001552180] Chr12:123752669 [GRCh38]
Chr12:124237216 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.294+217T>C single nucleotide variant not provided [RCV001612361] Chr12:123722665 [GRCh38]
Chr12:124207212 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=) single nucleotide variant not provided [RCV000877131] Chr12:123722391 [GRCh38]
Chr12:124206938 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=) single nucleotide variant not provided [RCV000921318] Chr12:123756879 [GRCh38]
Chr12:124241426 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502564] Chr12:123743811 [GRCh38]
Chr12:124228358 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup duplication ALG9 congenital disorder of glycosylation [RCV000983442] Chr12:123744342..123744343 [GRCh38]
Chr12:124228889..124228890 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000983496] Chr12:123722418 [GRCh38]
Chr12:124206965 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001070793] Chr12:123733929 [GRCh38]
Chr12:124218476 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002068720]|not provided [RCV000995003] Chr12:123756841 [GRCh38]
Chr12:124241388 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) duplication ALG9 congenital disorder of glycosylation [RCV001042830] Chr12:123743804..123743805 [GRCh38]
Chr12:124228351..124228352 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001416611] Chr12:123747666 [GRCh38]
Chr12:124232213 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1164C>T (p.Val388=) single nucleotide variant not provided [RCV000923749] Chr12:123743910 [GRCh38]
Chr12:124228457 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=) single nucleotide variant not provided [RCV000925090] Chr12:123756903 [GRCh38]
Chr12:124241450 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502572] Chr12:123758020 [GRCh38]
Chr12:124242567 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.295-276del deletion not provided [RCV000843319] Chr12:123724370 [GRCh38]
Chr12:124208917 [GRCh37]
Chr12:12q24.31
benign
NM_012463.3(ATP6V0A2):c.-378G>C single nucleotide variant not provided [RCV000835639] Chr12:123712188 [GRCh38]
Chr12:124196735 [GRCh37]
Chr12:12q24.31
benign
NM_012463.3(ATP6V0A2):c.-399A>T single nucleotide variant not provided [RCV000835720] Chr12:123712167 [GRCh38]
Chr12:124196714 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2465+58T>C single nucleotide variant not provided [RCV000835721] Chr12:123757044 [GRCh38]
Chr12:124241591 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.123751103C>T single nucleotide variant not provided [RCV000841760] Chr12:124235650 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002068554]|Cutis laxa with osteodystrophy [RCV001114576]|not provided [RCV000836118] Chr12:123726211 [GRCh38]
Chr12:124210758 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.2055+252C>T single nucleotide variant not provided [RCV000843321] Chr12:123751481 [GRCh38]
Chr12:124236028 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2056-333C>T single nucleotide variant not provided [RCV000843322] Chr12:123751950 [GRCh38]
Chr12:124236497 [GRCh37]
Chr12:12q24.31
benign
NM_012463.3(ATP6V0A2):c.-511T>A single nucleotide variant not provided [RCV000828978] Chr12:123712055 [GRCh38]
Chr12:124196602 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.433-170A>G single nucleotide variant not provided [RCV000838536] Chr12:123726027 [GRCh38]
Chr12:124210574 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1935+75T>C single nucleotide variant not provided [RCV000837979] Chr12:123748860 [GRCh38]
Chr12:124233407 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1936-147C>T single nucleotide variant not provided [RCV000838620] Chr12:123750963 [GRCh38]
Chr12:124235510 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002068616]|ATP6V0A2-related disorder [RCV004757292]|not provided [RCV000842332] Chr12:123744205 [GRCh38]
Chr12:124228752 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2294-4G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001519146]|Cutis laxa with osteodystrophy [RCV001111399]|not provided [RCV000836123] Chr12:123756811 [GRCh38]
Chr12:124241358 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.3(ATP6V0A2):c.-407A>T single nucleotide variant not provided [RCV000828752] Chr12:123712159 [GRCh38]
Chr12:124196706 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000818950]|Inborn genetic diseases [RCV002535492] Chr12:123735544 [GRCh38]
Chr12:124220091 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002555959]|Cutis laxa with osteodystrophy [RCV001109059]|Cutis laxa with osteodystrophy [RCV002482165]|not provided [RCV001092698] Chr12:123752343 [GRCh38]
Chr12:124236890 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2357C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001114914]|not provided [RCV004707552] Chr12:123760389 [GRCh38]
Chr12:123760389..123760390 [GRCh38]
Chr12:124244936 [GRCh37]
Chr12:124244936..124244937 [GRCh37]
Chr12:12q24.31
benign
NM_012463.3(ATP6V0A2):c.-400G>C single nucleotide variant not provided [RCV000828753] Chr12:123712166 [GRCh38]
Chr12:124196713 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) single nucleotide variant not provided [RCV000827053] Chr12:123752375 [GRCh38]
Chr12:124236922 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.*643C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001114800] Chr12:123758675 [GRCh38]
Chr12:124243222 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*706T>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001114801] Chr12:123758738 [GRCh38]
Chr12:124243285 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*3707A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001115017] Chr12:123761739 [GRCh38]
Chr12:124246286 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.732-287C>T single nucleotide variant not provided [RCV000843320] Chr12:123735244 [GRCh38]
Chr12:124219791 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.118-73G>A single nucleotide variant not provided [RCV000837107] Chr12:123718550 [GRCh38]
Chr12:124203097 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001088794]|ATP6V0A2-related disorder [RCV003948030]|not provided [RCV000840694] Chr12:123743874 [GRCh38]
Chr12:124228421 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.649-36G>A single nucleotide variant not provided [RCV000834201] Chr12:123733890 [GRCh38]
Chr12:124218437 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.432+12C>T single nucleotide variant not provided [RCV000841477] Chr12:123724803 [GRCh38]
Chr12:124209350 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.521+14C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002067555]|not provided [RCV000842253] Chr12:123726299 [GRCh38]
Chr12:124210846 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001856507]|Cutis laxa with osteodystrophy [RCV001114575]|Inborn genetic diseases [RCV002558139]|not provided [RCV001567082] Chr12:123726204 [GRCh38]
Chr12:124210751 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*575G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001114799] Chr12:123758607 [GRCh38]
Chr12:124243154 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1 copy number loss not provided [RCV000848395] Chr12:122169403..129084163 [GRCh37]
Chr12:12q24.31-24.32
pathogenic
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001493530] Chr12:123748776 [GRCh38]
Chr12:124233323 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.*1731C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001113493] Chr12:123759763 [GRCh38]
Chr12:124244310 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*1837T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV001113495] Chr12:123759869 [GRCh38]
Chr12:124244416 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1605+1G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001242368] Chr12:123744973 [GRCh38]
Chr12:124229520 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) single nucleotide variant Cutis laxa with osteodystrophy [RCV001111401] Chr12:123756933 [GRCh38]
Chr12:124241480 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2876A>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001111596] Chr12:123760908 [GRCh38]
Chr12:124245455 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2929C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001111597] Chr12:123760961 [GRCh38]
Chr12:124245508 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001065442] Chr12:123758015 [GRCh38]
Chr12:124242562 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2176-5C>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001109060] Chr12:123754415 [GRCh38]
Chr12:124238962 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2771A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001109269] Chr12:123760803 [GRCh38]
Chr12:124245350 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2782C>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001109270] Chr12:123760814 [GRCh38]
Chr12:124245361 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003105176] Chr12:123724692 [GRCh38]
Chr12:124209239 [GRCh37]
Chr12:12q24.31
likely benign
NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1] microsatellite not provided [RCV001576117] Chr12:123712076..123712077 [GRCh38]
Chr12:124196623..124196624 [GRCh37]
Chr12:12q24.31
likely benign
NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1] microsatellite not provided [RCV001546401] Chr12:123712076..123712077 [GRCh38]
Chr12:124196623..124196624 [GRCh37]
Chr12:12q24.31
likely benign
NC_000012.12:g.123712061AC[6] microsatellite not provided [RCV001552187] Chr12:123712059..123712060 [GRCh38]
Chr12:124196606..124196607 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2466-10T>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003104263] Chr12:123757917 [GRCh38]
Chr12:124242464 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser) single nucleotide variant not provided [RCV003318148] Chr12:123722384 [GRCh38]
Chr12:124206931 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.732-168T>C single nucleotide variant not provided [RCV001667875] Chr12:123735363 [GRCh38]
Chr12:124219910 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.123712057AC[9] microsatellite not provided [RCV001695421] Chr12:123712055..123712056 [GRCh38]
Chr12:124196602..124196603 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.295-112del deletion not provided [RCV001555322] Chr12:123724529 [GRCh38]
Chr12:124209076 [GRCh37]
Chr12:12q24.31
likely benign
NC_000012.12:g.123628460_123712468dup duplication not provided [RCV001542282] Chr12:123628460..123712468 [GRCh38]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.123712055AC[6] microsatellite not provided [RCV001555757] Chr12:123712053..123712054 [GRCh38]
Chr12:124196600..124196601 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1039-110A>C single nucleotide variant not provided [RCV001569224] Chr12:123743675 [GRCh38]
Chr12:124228222 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2055+166C>G single nucleotide variant not provided [RCV001561484] Chr12:123751395 [GRCh38]
Chr12:124235942 [GRCh37]
Chr12:12q24.31
likely benign
NC_000012.12:g.123712061AC[5] microsatellite not provided [RCV001557275] Chr12:123712059..123712060 [GRCh38]
Chr12:124196606..124196607 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.433-117T>C single nucleotide variant not provided [RCV001714507] Chr12:123726080 [GRCh38]
Chr12:124210627 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1039-123del deletion not provided [RCV001639836] Chr12:123743654 [GRCh38]
Chr12:124228201 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.522-306G>T single nucleotide variant not provided [RCV001581635] Chr12:123727477 [GRCh38]
Chr12:124212024 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.522-159T>C single nucleotide variant not provided [RCV001714655] Chr12:123727624 [GRCh38]
Chr12:124212171 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.295-265G>A single nucleotide variant not provided [RCV001563299] Chr12:123724389 [GRCh38]
Chr12:124208936 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.295-112dup duplication not provided [RCV001654648] Chr12:123724528..123724529 [GRCh38]
Chr12:124209075..124209076 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.123712057T>A single nucleotide variant not provided [RCV001656848] Chr12:123712057 [GRCh38]
Chr12:124196604 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002072115]|not provided [RCV001559066] Chr12:123752393 [GRCh38]
Chr12:124236940 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+51A>C single nucleotide variant not provided [RCV001650167] Chr12:123712733 [GRCh38]
Chr12:124197280 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.197-283A>G single nucleotide variant not provided [RCV001566367] Chr12:123722068 [GRCh38]
Chr12:124206615 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.826-217T>C single nucleotide variant not provided [RCV001559536] Chr12:123736842 [GRCh38]
Chr12:124221389 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2294-6T>C single nucleotide variant not provided [RCV000895612] Chr12:123756809 [GRCh38]
Chr12:124241356 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502578] Chr12:123722388 [GRCh38]
Chr12:124206935 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001482854]|not provided [RCV000941816] Chr12:123751217 [GRCh38]
Chr12:124235764 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002537524] Chr12:123748698 [GRCh38]
Chr12:124233245 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.*3357G>C single nucleotide variant Cutis laxa with osteodystrophy [RCV001112077] Chr12:123761389 [GRCh38]
Chr12:124245936 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*3368T>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001112078] Chr12:123761400 [GRCh38]
Chr12:124245947 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2329G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001114913] Chr12:123760361 [GRCh38]
Chr12:124244908 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*3684C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001115016] Chr12:123761716 [GRCh38]
Chr12:124246263 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002065808] Chr12:123758017 [GRCh38]
Chr12:124242564 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV000957146] Chr12:123712598 [GRCh38]
Chr12:124197145 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002065825] Chr12:123754518 [GRCh38]
Chr12:124239065 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.732-102G>A single nucleotide variant not provided [RCV001556597] Chr12:123735429 [GRCh38]
Chr12:124219976 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.521+40C>T single nucleotide variant not provided [RCV001562581] Chr12:123726325 [GRCh38]
Chr12:124210872 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.522-284G>C single nucleotide variant not provided [RCV001660875] Chr12:123727499 [GRCh38]
Chr12:124212046 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.649-114T>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001553946]|Wrinkly skin syndrome [RCV001553947]|not provided [RCV001615308] Chr12:123733812 [GRCh38]
Chr12:124218359 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.732-247C>T single nucleotide variant not provided [RCV001574875] Chr12:123735284 [GRCh38]
Chr12:124219831 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001882687]|not provided [RCV001575645] Chr12:123743872 [GRCh38]
Chr12:124228419 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.123712057AC[11] microsatellite not provided [RCV001552020] Chr12:123712055..123712056 [GRCh38]
Chr12:124196602..124196603 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1039-12T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002072111]|not provided [RCV001558717] Chr12:123743773 [GRCh38]
Chr12:124228320 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.433-60C>T single nucleotide variant not provided [RCV001558839] Chr12:123726137 [GRCh38]
Chr12:124210684 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.732-23T>G single nucleotide variant not provided [RCV001594091] Chr12:123735508 [GRCh38]
Chr12:124220055 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu) single nucleotide variant not provided [RCV001565925] Chr12:123754430 [GRCh38]
Chr12:124238977 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.123712055AC[8] microsatellite not provided [RCV001560728] Chr12:123712053..123712054 [GRCh38]
Chr12:124196600..124196601 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1039-32T>A single nucleotide variant not provided [RCV001561267] Chr12:123743753 [GRCh38]
Chr12:124228300 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.197-263T>C single nucleotide variant not provided [RCV001556353] Chr12:123722088 [GRCh38]
Chr12:124206635 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu) single nucleotide variant not provided [RCV000995002] Chr12:123744765 [GRCh38]
Chr12:124229312 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.294+103T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV001553941]|Wrinkly skin syndrome [RCV001553942]|not provided [RCV001541246] Chr12:123722551 [GRCh38]
Chr12:124207098 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.433-195C>T single nucleotide variant not provided [RCV001651603] Chr12:123726002 [GRCh38]
Chr12:124210549 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2466-73dup duplication not provided [RCV001656026] Chr12:123757843..123757844 [GRCh38]
Chr12:124242390..124242391 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs) deletion not provided [RCV001594035] Chr12:123718698 [GRCh38]
Chr12:124203245 [GRCh37]
Chr12:12q24.31
pathogenic
NC_000012.12:g.123712271G>C single nucleotide variant not provided [RCV001581799] Chr12:123712271 [GRCh38]
Chr12:124196818 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002592496]|not provided [RCV001594062]|not specified [RCV004526137] Chr12:123754488 [GRCh38]
Chr12:124239035 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001882750]|Inborn genetic diseases [RCV002538535]|not provided [RCV001663299] Chr12:123737110 [GRCh38]
Chr12:124221657 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.196+235G>A single nucleotide variant not provided [RCV001613553] Chr12:123718936 [GRCh38]
Chr12:124203483 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001856480]|Cutis laxa with osteodystrophy [RCV001111306]|not provided [RCV001664691] Chr12:123737153 [GRCh38]
Chr12:124221700 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609178]|Cutis laxa with osteodystrophy [RCV001111402] Chr12:123756960 [GRCh38]
Chr12:124241507 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*1620T>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001111507] Chr12:123759652 [GRCh38]
Chr12:124244199 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1645G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001111508] Chr12:123759677 [GRCh38]
Chr12:124244224 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) single nucleotide variant Cutis laxa with osteodystrophy [RCV001108951]|not provided [RCV001580565] Chr12:123735575 [GRCh38]
Chr12:124220122 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.826-5C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001108955] Chr12:123737054 [GRCh38]
Chr12:124221601 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1064G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001109167] Chr12:123759096 [GRCh38]
Chr12:124243643 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*2875A>C single nucleotide variant Cutis laxa with osteodystrophy [RCV001109271]|not provided [RCV003405319] Chr12:123760907 [GRCh38]
Chr12:124245454 [GRCh37]
Chr12:12q24.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012463.4(ATP6V0A2):c.*3167G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001111598] Chr12:123761199 [GRCh38]
Chr12:124245746 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001862889]|Cutis laxa with osteodystrophy [RCV001113317]|Inborn genetic diseases [RCV003259099]|not provided [RCV001760081] Chr12:123744700 [GRCh38]
Chr12:124229247 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502588]|Cutis laxa with osteodystrophy [RCV001113316] Chr12:123744334 [GRCh38]
Chr12:124228881 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val) single nucleotide variant not provided [RCV001091865] Chr12:123712630 [GRCh38]
Chr12:124197177 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001324109]|Cutis laxa with osteodystrophy [RCV001108953] Chr12:123735590 [GRCh38]
Chr12:124220137 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002556129]|Cutis laxa with osteodystrophy [RCV001108954]|Inborn genetic diseases [RCV003339512]|not provided [RCV001537393] Chr12:123735592 [GRCh38]
Chr12:124220139 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2618A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001109266] Chr12:123760650 [GRCh38]
Chr12:124245197 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro) single nucleotide variant not provided [RCV001092699] Chr12:123756835 [GRCh38]
Chr12:124241382 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.-114G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001111205] Chr12:123712452 [GRCh38]
Chr12:124196999 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) single nucleotide variant Cutis laxa with osteodystrophy [RCV001111208] Chr12:123712654 [GRCh38]
Chr12:124197201 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2293+168_2293+171del deletion not provided [RCV001647784] Chr12:123754702..123754705 [GRCh38]
Chr12:124239249..124239252 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.294+214C>T single nucleotide variant not provided [RCV001649974] Chr12:123722662 [GRCh38]
Chr12:124207209 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.2176-10TC[2] microsatellite Cutis laxa with osteodystrophy [RCV001004863] Chr12:123754410..123754413 [GRCh38]
Chr12:124238957..124238960 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002573276]|not provided [RCV001587596] Chr12:123737101 [GRCh38]
Chr12:124221648 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1606-301G>A single nucleotide variant not provided [RCV001684500] Chr12:123747306 [GRCh38]
Chr12:124231853 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.117+81G>T single nucleotide variant not provided [RCV001587900] Chr12:123712763 [GRCh38]
Chr12:124197310 [GRCh37]
Chr12:12q24.31
likely benign
NC_000012.12:g.123712061AC[7] microsatellite not provided [RCV001584931] Chr12:123712059..123712060 [GRCh38]
Chr12:124196606..124196607 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1039-303C>T single nucleotide variant not provided [RCV001583236] Chr12:123743482 [GRCh38]
Chr12:124228029 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.*3262G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001112076] Chr12:123761294 [GRCh38]
Chr12:124245841 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002071944]|not provided [RCV001539035] Chr12:123751145 [GRCh38]
Chr12:124235692 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1190-115T>C single nucleotide variant not provided [RCV001587017] Chr12:123744086 [GRCh38]
Chr12:124228633 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.*1803C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001113494] Chr12:123759835 [GRCh38]
Chr12:124244382 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.123712057AC[7] microsatellite not provided [RCV001574826] Chr12:123712055..123712056 [GRCh38]
Chr12:124196602..124196603 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1515-12T>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502589]|Cutis laxa with osteodystrophy [RCV001113319] Chr12:123744870 [GRCh38]
Chr12:124229417 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) single nucleotide variant Cutis laxa with osteodystrophy [RCV001113404]|Inborn genetic diseases [RCV002556212] Chr12:123758008 [GRCh38]
Chr12:124242555 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) single nucleotide variant Cutis laxa with osteodystrophy [RCV002497684]|not provided [RCV001200354] Chr12:123747667 [GRCh38]
Chr12:124232214 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*742G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001114802] Chr12:123758774 [GRCh38]
Chr12:124243321 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*2090C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001114912] Chr12:123760122 [GRCh38]
Chr12:124244669 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001216411]|not provided [RCV001760196] Chr12:123743864 [GRCh38]
Chr12:124228411 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.*63C>T single nucleotide variant Cutis laxa with osteodystrophy [RCV001113405] Chr12:123758095 [GRCh38]
Chr12:124242642 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1950G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001113496] Chr12:123759982 [GRCh38]
Chr12:124244529 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg) single nucleotide variant not provided [RCV001171666] Chr12:123743911 [GRCh38]
Chr12:124228458 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002069848]|Cutis laxa with osteodystrophy [RCV001114686]|not provided [RCV001561688] Chr12:123744891 [GRCh38]
Chr12:124229438 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) single nucleotide variant Cutis laxa with osteodystrophy [RCV001108952] Chr12:123735585 [GRCh38]
Chr12:124220132 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.*1122A>G single nucleotide variant Cutis laxa with osteodystrophy [RCV001109168] Chr12:123759154 [GRCh38]
Chr12:124243701 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*2710G>A single nucleotide variant Cutis laxa with osteodystrophy [RCV001109267] Chr12:123760742 [GRCh38]
Chr12:124245289 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.*2759T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV001109268] Chr12:123760791 [GRCh38]
Chr12:124245338 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) indel ALG9 congenital disorder of glycosylation [RCV001248468] Chr12:123748681..123748682 [GRCh38]
Chr12:124233228..124233229 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) deletion Cutis laxa with osteodystrophy [RCV001290340] Chr12:123737235 [GRCh38]
Chr12:124221782 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001889418] Chr12:123748693 [GRCh38]
Chr12:124233240 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3 copy number gain not provided [RCV001260170] Chr12:123807132..124299781 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) single nucleotide variant Wrinkly skin syndrome [RCV001262499] Chr12:123754467 [GRCh38]
Chr12:124239014 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001318315] Chr12:123744702 [GRCh38]
Chr12:124229249 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.123712067A>G single nucleotide variant not provided [RCV001537142] Chr12:123712067 [GRCh38]
Chr12:124196614 [GRCh37]
Chr12:12q24.31
benign
GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341) copy number loss Severe short stature [RCV001352637] Chr12:123878845..126829341 [GRCh37]
Chr12:12q24.31-24.32
pathogenic
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001865860]|ATP6V0A2-related disorder [RCV004757411]|Cutis laxa with osteodystrophy [RCV001337117]|not provided [RCV004720861] Chr12:123743858 [GRCh38]
Chr12:124228405 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001322817]|not provided [RCV003883608] Chr12:123756897 [GRCh38]
Chr12:124241444 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001313607] Chr12:123737271 [GRCh38]
Chr12:124221818 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001299829] Chr12:123737230 [GRCh38]
Chr12:124221777 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2466-3dup duplication ALG9 congenital disorder of glycosylation [RCV001521749]|not provided [RCV001587460] Chr12:123757911..123757912 [GRCh38]
Chr12:124242458..124242459 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001506653] Chr12:123754494 [GRCh38]
Chr12:124239041 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001387990] Chr12:123754447 [GRCh38]
Chr12:124238994 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001410274] Chr12:123712583 [GRCh38]
Chr12:124197130 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2055+114A>G single nucleotide variant not provided [RCV001538255] Chr12:123751343 [GRCh38]
Chr12:124235890 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.123712309del deletion not provided [RCV001725589] Chr12:123712302 [GRCh38]
Chr12:124196849 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.825+183A>C single nucleotide variant not provided [RCV001717246] Chr12:123735807 [GRCh38]
Chr12:124220354 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1] microsatellite not provided [RCV001588360] Chr12:123712076..123712077 [GRCh38]
Chr12:124196623..124196624 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.731+242A>G single nucleotide variant not provided [RCV001684112] Chr12:123734250 [GRCh38]
Chr12:124218797 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.522-49A>G single nucleotide variant not provided [RCV001717036] Chr12:123727734 [GRCh38]
Chr12:124212281 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.196+173dup duplication not provided [RCV001615535] Chr12:123718867..123718868 [GRCh38]
Chr12:124203414..124203415 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.295-190G>A single nucleotide variant not provided [RCV001611617] Chr12:123724464 [GRCh38]
Chr12:124209011 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.123712059T>A single nucleotide variant not provided [RCV001694606] Chr12:123712059 [GRCh38]
Chr12:124196606 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1190-123C>T single nucleotide variant not provided [RCV001527866] Chr12:123744078 [GRCh38]
Chr12:124228625 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1039-127A>C single nucleotide variant not provided [RCV001527909] Chr12:123743658 [GRCh38]
Chr12:124228205 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) single nucleotide variant Cutis laxa with osteodystrophy [RCV001420582] Chr12:123751206 [GRCh38]
Chr12:124235753 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.11:g.(?_123738222)_(124242579_?)dup duplication Combined oxidative phosphorylation defect type 7 [RCV002239168] Chr12:123738222..124242579 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2558A>G (p.Asp853Gly) single nucleotide variant not provided [RCV001756338] Chr12:123758019 [GRCh38]
Chr12:124242566 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.576G>T (p.Leu192Phe) single nucleotide variant not provided [RCV001754878] Chr12:123727837 [GRCh38]
Chr12:124212384 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1355A>C (p.Tyr452Ser) single nucleotide variant not provided [RCV001760939] Chr12:123744625 [GRCh38]
Chr12:124229172 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) single nucleotide variant Cutis laxa with osteodystrophy [RCV002272834] Chr12:123756962 [GRCh38]
Chr12:124241509 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser) single nucleotide variant not provided [RCV001758603] Chr12:123756895 [GRCh38]
Chr12:124241442 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1515-3_1515-2del deletion not provided [RCV001772847] Chr12:123744878..123744879 [GRCh38]
Chr12:124229425..124229426 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002544047]|not provided [RCV001763224] Chr12:123726199 [GRCh38]
Chr12:124210746 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1420A>G (p.Lys474Glu) single nucleotide variant not provided [RCV001772974] Chr12:123744690 [GRCh38]
Chr12:124229237 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002544083]|not provided [RCV001767618] Chr12:123744627 [GRCh38]
Chr12:124229174 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His) single nucleotide variant not provided [RCV001765345]|not specified [RCV001825022] Chr12:123735605 [GRCh38]
Chr12:124220152 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=) single nucleotide variant not provided [RCV001757230] Chr12:123757966 [GRCh38]
Chr12:124242513 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) duplication Cutis laxa with osteodystrophy [RCV003485991] Chr12:123754472..123754473 [GRCh38]
Chr12:124239019..124239020 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002540311]|Inborn genetic diseases [RCV002540310]|not provided [RCV001760692] Chr12:123748672 [GRCh38]
Chr12:124233219 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002544318]|not provided [RCV001794583] Chr12:123735617 [GRCh38]
Chr12:124220164 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33
likely pathogenic
NM_012463.4(ATP6V0A2):c.987G>A (p.Trp329Ter) single nucleotide variant not provided [RCV001780626] Chr12:123737220 [GRCh38]
Chr12:124221767 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002034632]|Cutis laxa with osteodystrophy [RCV003147679]|Inborn genetic diseases [RCV004040837]|not provided [RCV001787482] Chr12:123737227 [GRCh38]
Chr12:124221774 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2293+1G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609191]|not provided [RCV001780636] Chr12:123754538 [GRCh38]
Chr12:124239085 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_012463.4(ATP6V0A2):c.1214del (p.Pro405fs) deletion not provided [RCV001780665] Chr12:123744223 [GRCh38]
Chr12:124228770 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001868453]|Cutis laxa with osteodystrophy [RCV002477953]|Inborn genetic diseases [RCV002544073]|not provided [RCV001756836] Chr12:123737116 [GRCh38]
Chr12:124221663 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001882830]|Cutis laxa with osteodystrophy [RCV002496074]|Inborn genetic diseases [RCV004968244]|not provided [RCV001757963] Chr12:123724781 [GRCh38]
Chr12:124209328 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1577G>A (p.Arg526Gln) single nucleotide variant not specified [RCV001819190] Chr12:123744944 [GRCh38]
Chr12:124229491 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2055+4A>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001874523]|Inborn genetic diseases [RCV004040451] Chr12:123751233 [GRCh38]
Chr12:124235780 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001970929] Chr12:123744258 [GRCh38]
Chr12:124228805 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001869869]|not provided [RCV003883709]|not specified [RCV001844656] Chr12:123743803 [GRCh38]
Chr12:124228350 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3 copy number gain not provided [RCV001834350] Chr12:123807132..124300075 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001909964]|Inborn genetic diseases [RCV004042787] Chr12:123722445 [GRCh38]
Chr12:124206992 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:124097565-124278641) copy number loss not specified [RCV002053032] Chr12:124097565..124278641 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002034704]|not provided [RCV001837632] Chr12:123737248 [GRCh38]
Chr12:124221795 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile) inversion ALG9 congenital disorder of glycosylation [RCV001965840] Chr12:123724785..123724786 [GRCh38]
Chr12:124209332..124209333 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001964458] Chr12:123737089 [GRCh38]
Chr12:124221636 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002006104]|Inborn genetic diseases [RCV002592560] Chr12:123751207 [GRCh38]
Chr12:124235754 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.118-1G>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001985792] Chr12:123718622 [GRCh38]
Chr12:124203169 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001912534] Chr12:123743840 [GRCh38]
Chr12:124228387 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001894718]|Cutis laxa with osteodystrophy [RCV002482562]|Inborn genetic diseases [RCV002551039]|not provided [RCV004591607] Chr12:123712593 [GRCh38]
Chr12:124197140 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn) inversion ALG9 congenital disorder of glycosylation [RCV001983165] Chr12:123744882..123744883 [GRCh38]
Chr12:124229429..124229430 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile) single nucleotide variant Inborn genetic diseases [RCV003163994]|not specified [RCV001844657] Chr12:123724769 [GRCh38]
Chr12:124209316 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002021139] Chr12:123712582 [GRCh38]
Chr12:124197129 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002040571] Chr12:123757963 [GRCh38]
Chr12:124242510 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001965133] Chr12:123737120 [GRCh38]
Chr12:124221667 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002038902] Chr12:123724768 [GRCh38]
Chr12:124209315 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001905779] Chr12:123743825 [GRCh38]
Chr12:124228372 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1605+13C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002035392] Chr12:123744985 [GRCh38]
Chr12:124229532 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001904274] Chr12:123756856 [GRCh38]
Chr12:124241403 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001867324] Chr12:123712599 [GRCh38]
Chr12:124197146 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001975534] Chr12:123744621 [GRCh38]
Chr12:124229168 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001864794] Chr12:123751218 [GRCh38]
Chr12:124235765 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001977711]|Inborn genetic diseases [RCV004681372] Chr12:123752392 [GRCh38]
Chr12:124236939 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001954397]|Cutis laxa with osteodystrophy [RCV002479600]|not provided [RCV003149012] Chr12:123756848 [GRCh38]
Chr12:124241395 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001981867] Chr12:123722417 [GRCh38]
Chr12:124206964 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001905926] Chr12:123747724 [GRCh38]
Chr12:124232271 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1249C>T (p.His417Tyr) single nucleotide variant not provided [RCV002034820] Chr12:123744260 [GRCh38]
Chr12:124228807 [GRCh37]
Chr12:12q24.31
likely pathogenic
NC_000012.11:g.(?_124191253)_(124207015_?)dup duplication ALG9 congenital disorder of glycosylation [RCV001883377] Chr12:124191253..124207015 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001938717] Chr12:123751202 [GRCh38]
Chr12:124235749 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002036437]|Inborn genetic diseases [RCV002549029] Chr12:123743866 [GRCh38]
Chr12:124228413 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001924394] Chr12:123737255 [GRCh38]
Chr12:124221802 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001974013]|Inborn genetic diseases [RCV004970689]|not provided [RCV003225214] Chr12:123743875 [GRCh38]
Chr12:124228422 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001974852] Chr12:123743845 [GRCh38]
Chr12:124228392 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002016671] Chr12:123744669 [GRCh38]
Chr12:124229216 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001935400] Chr12:123756875 [GRCh38]
Chr12:124241422 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV001878873] Chr12:123744738 [GRCh38]
Chr12:124229285 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1039-13G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002075698] Chr12:123743772 [GRCh38]
Chr12:124228319 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+19A>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002186873] Chr12:123712701 [GRCh38]
Chr12:124197248 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+18_117+19del microsatellite ALG9 congenital disorder of glycosylation [RCV002186872] Chr12:123712698..123712699 [GRCh38]
Chr12:124197245..124197246 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.197-4A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002109560] Chr12:123722347 [GRCh38]
Chr12:124206894 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1935+8A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002117132] Chr12:123748793 [GRCh38]
Chr12:124233340 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002174911] Chr12:123747693 [GRCh38]
Chr12:124232240 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002213004] Chr12:123748713 [GRCh38]
Chr12:124233260 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002173595] Chr12:123743904 [GRCh38]
Chr12:124228451 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002177092] Chr12:123737145 [GRCh38]
Chr12:124221692 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002176998] Chr12:123735618 [GRCh38]
Chr12:124220165 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002136018] Chr12:123727882 [GRCh38]
Chr12:124212429 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.826-14T>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002183760] Chr12:123737045 [GRCh38]
Chr12:124221592 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1038+19C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002176473] Chr12:123737290 [GRCh38]
Chr12:124221837 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002099751] Chr12:123733982 [GRCh38]
Chr12:124218529 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1605+16T>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002203391] Chr12:123744988 [GRCh38]
Chr12:124229535 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu) single nucleotide variant Cutis laxa with osteodystrophy [RCV005008482]|not specified [RCV002223077] Chr12:123744225 [GRCh38]
Chr12:124228772 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NC_000012.11:g.(?_122277634)_(124242579_?)del deletion not provided [RCV003111519] Chr12:122277634..124242579 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003118181]|ATP6V0A2-related disorder [RCV003936702] Chr12:123752378 [GRCh38]
Chr12:124236925 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003112807] Chr12:123724741 [GRCh38]
Chr12:124209288 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003116238] Chr12:123751127 [GRCh38]
Chr12:124235674 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs) deletion Cutis laxa [RCV003123476] Chr12:123756914 [GRCh38]
Chr12:124241461 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003093949]|not provided [RCV002244474] Chr12:123743852 [GRCh38]
Chr12:124228399 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003097691]|not provided [RCV002285733] Chr12:123743816 [GRCh38]
Chr12:124228363 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser) single nucleotide variant not provided [RCV002293664] Chr12:123718633 [GRCh38]
Chr12:124203180 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu) single nucleotide variant not specified [RCV002266449] Chr12:123724657 [GRCh38]
Chr12:124209204 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002297610] Chr12:123754450 [GRCh38]
Chr12:124238997 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.826-89GA[3] microsatellite not provided [RCV003129370] Chr12:123736969..123736970 [GRCh38]
Chr12:124221516..124221517 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002299395] Chr12:123751189 [GRCh38]
Chr12:124235736 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg) single nucleotide variant not provided [RCV002306314] Chr12:123744763 [GRCh38]
Chr12:124229310 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002302058] Chr12:123744320 [GRCh38]
Chr12:124228867 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002971466] Chr12:123744746 [GRCh38]
Chr12:124229293 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002750650] Chr12:123747666 [GRCh38]
Chr12:124232213 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002750361] Chr12:123712646 [GRCh38]
Chr12:124197193 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002903087] Chr12:123743844 [GRCh38]
Chr12:124228391 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del microsatellite ALG9 congenital disorder of glycosylation [RCV002880707] Chr12:123737288..123737290 [GRCh38]
Chr12:124221835..124221837 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002819925] Chr12:123712637 [GRCh38]
Chr12:124197184 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002975016] Chr12:123758002 [GRCh38]
Chr12:124242549 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002996662] Chr12:123737195 [GRCh38]
Chr12:124221742 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002776227] Chr12:123756909 [GRCh38]
Chr12:124241456 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2056-20T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002686331] Chr12:123752263 [GRCh38]
Chr12:124236810 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2055+8C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002613683] Chr12:123751237 [GRCh38]
Chr12:124235784 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del) microsatellite ALG9 congenital disorder of glycosylation [RCV003080252] Chr12:123744765..123744767 [GRCh38]
Chr12:124229312..124229314 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002889523] Chr12:123727789 [GRCh38]
Chr12:124212336 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA insertion ALG9 congenital disorder of glycosylation [RCV003036605] Chr12:123757910..123757911 [GRCh38]
Chr12:124242457..124242458 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002572086] Chr12:123754500 [GRCh38]
Chr12:124239047 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003021197] Chr12:123744322 [GRCh38]
Chr12:124228869 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup duplication ALG9 congenital disorder of glycosylation [RCV002781178] Chr12:123751246..123751247 [GRCh38]
Chr12:124235793..124235794 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002795846] Chr12:123744754 [GRCh38]
Chr12:124229301 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002659531] Chr12:123751162 [GRCh38]
Chr12:124235709 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002619792] Chr12:123712643 [GRCh38]
Chr12:124197190 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1725-10del deletion ALG9 congenital disorder of glycosylation [RCV002796939] Chr12:123748562 [GRCh38]
Chr12:124233109 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.294+16C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002761283] Chr12:123722464 [GRCh38]
Chr12:124207011 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.196+8T>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002706034] Chr12:123718709 [GRCh38]
Chr12:124203256 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002998842] Chr12:123754437 [GRCh38]
Chr12:124238984 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003052884] Chr12:123724765 [GRCh38]
Chr12:124209312 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del microsatellite ALG9 congenital disorder of glycosylation [RCV002695711] Chr12:123752263..123752264 [GRCh38]
Chr12:124236810..124236811 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002637335] Chr12:123743874 [GRCh38]
Chr12:124228421 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002591980] Chr12:123744761 [GRCh38]
Chr12:124229308 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002848362] Chr12:123748776 [GRCh38]
Chr12:124233323 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.826-20C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003077365] Chr12:123737039 [GRCh38]
Chr12:124221586 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003078121] Chr12:123747668 [GRCh38]
Chr12:124232215 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.117+9C>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002638905] Chr12:123712691 [GRCh38]
Chr12:124197238 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002636574]|Inborn genetic diseases [RCV002620333] Chr12:123735604 [GRCh38]
Chr12:124220151 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003077499] Chr12:123757951 [GRCh38]
Chr12:124242498 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003077504] Chr12:123744707 [GRCh38]
Chr12:124229254 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003054052] Chr12:123751173 [GRCh38]
Chr12:124235720 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2294-12A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003078279] Chr12:123756803 [GRCh38]
Chr12:124241350 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002592248]|not provided [RCV005002960] Chr12:123712584 [GRCh38]
Chr12:124197131 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002797313] Chr12:123724661 [GRCh38]
Chr12:124209208 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002621855] Chr12:123733945 [GRCh38]
Chr12:124218492 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002797130] Chr12:123748630 [GRCh38]
Chr12:124233177 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002622721]|not provided [RCV004763443] Chr12:123734005 [GRCh38]
Chr12:124218552 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.648+13C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002796693] Chr12:123727922 [GRCh38]
Chr12:124212469 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.649-20T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002928398] Chr12:123733906 [GRCh38]
Chr12:124218453 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1515-9T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002741786] Chr12:123744873 [GRCh38]
Chr12:124229420 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.118-9T>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002876736] Chr12:123718614 [GRCh38]
Chr12:124203161 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002745495] Chr12:123752294 [GRCh38]
Chr12:124236841 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002894758] Chr12:123754467 [GRCh38]
Chr12:124239014 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002642827] Chr12:123737082 [GRCh38]
Chr12:124221629 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002958790]|Cutis laxa with osteodystrophy [RCV004725432]|Inborn genetic diseases [RCV002962036] Chr12:123737209 [GRCh38]
Chr12:124221756 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.1558A>T (p.Ser520Cys) single nucleotide variant Inborn genetic diseases [RCV002709433] Chr12:123744925 [GRCh38]
Chr12:124229472 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003058403] Chr12:123751189 [GRCh38]
Chr12:124235736 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002828626] Chr12:123752284 [GRCh38]
Chr12:124236831 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.472G>A (p.Asp158Asn) single nucleotide variant Inborn genetic diseases [RCV002698637]|not provided [RCV004765741] Chr12:123726236 [GRCh38]
Chr12:124210783 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.118-13A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003084461] Chr12:123718610 [GRCh38]
Chr12:124203157 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1039-1G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002851954] Chr12:123743784 [GRCh38]
Chr12:124228331 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002624180] Chr12:123733998 [GRCh38]
Chr12:124218545 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002982600] Chr12:123737097 [GRCh38]
Chr12:124221644 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002711753] Chr12:123722359 [GRCh38]
Chr12:124206906 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs) deletion Cutis laxa with osteodystrophy [RCV002789998] Chr12:123712581..123712584 [GRCh38]
Chr12:124197128..124197131 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002765455] Chr12:123712667 [GRCh38]
Chr12:124197214 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+20_117+21insT insertion ALG9 congenital disorder of glycosylation [RCV002623864] Chr12:123712702..123712703 [GRCh38]
Chr12:124197249..124197250 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002666857] Chr12:123744751 [GRCh38]
Chr12:124229298 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1661T>C (p.Met554Thr) single nucleotide variant Inborn genetic diseases [RCV002930793] Chr12:123747662 [GRCh38]
Chr12:124232209 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1190-7dup duplication ALG9 congenital disorder of glycosylation [RCV003083770] Chr12:123744188..123744189 [GRCh38]
Chr12:124228735..124228736 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002929173] Chr12:123751122 [GRCh38]
Chr12:124235669 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002598684] Chr12:123747629 [GRCh38]
Chr12:124232176 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002577324] Chr12:123757952 [GRCh38]
Chr12:124242499 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002631391] Chr12:123747675 [GRCh38]
Chr12:124232222 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003048540] Chr12:123737240 [GRCh38]
Chr12:124221787 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1403A>G (p.Tyr468Cys) single nucleotide variant Inborn genetic diseases [RCV002673034] Chr12:123744673 [GRCh38]
Chr12:124229220 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002632836] Chr12:123712628 [GRCh38]
Chr12:124197175 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002857705] Chr12:123744623 [GRCh38]
Chr12:124229170 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2056-14C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002877457] Chr12:123752269 [GRCh38]
Chr12:124236816 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002649779] Chr12:123727825 [GRCh38]
Chr12:124212372 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1326+7A>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002900529] Chr12:123744344 [GRCh38]
Chr12:124228891 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003062114] Chr12:123733956 [GRCh38]
Chr12:124218503 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.294+18A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002857426] Chr12:123722466 [GRCh38]
Chr12:124207013 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003010191] Chr12:123724729 [GRCh38]
Chr12:124209276 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003010198] Chr12:123737172 [GRCh38]
Chr12:124221719 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer) duplication ALG9 congenital disorder of glycosylation [RCV003062556]|Cutis laxa with osteodystrophy [RCV005010898] Chr12:123724747..123724748 [GRCh38]
Chr12:124209294..124209295 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs) deletion ALG9 congenital disorder of glycosylation [RCV003063983] Chr12:123751119..123751120 [GRCh38]
Chr12:124235666..124235667 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002651034] Chr12:123754474 [GRCh38]
Chr12:124239021 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002671002] Chr12:123724732 [GRCh38]
Chr12:124209279 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.197-16A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003062611] Chr12:123722335 [GRCh38]
Chr12:124206882 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003089695]|Inborn genetic diseases [RCV004676140] Chr12:123744234 [GRCh38]
Chr12:124228781 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002631668] Chr12:123744640 [GRCh38]
Chr12:124229187 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.731+6A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002857231] Chr12:123734014 [GRCh38]
Chr12:124218561 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002600530]|not provided [RCV003443063] Chr12:123735568 [GRCh38]
Chr12:124220115 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002856948] Chr12:123726283 [GRCh38]
Chr12:124210830 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002770136] Chr12:123756849 [GRCh38]
Chr12:124241396 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003045790] Chr12:123743827 [GRCh38]
Chr12:124228374 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2501G>A (p.Gly834Asp) single nucleotide variant Inborn genetic diseases [RCV002812441] Chr12:123757962 [GRCh38]
Chr12:124242509 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002721022] Chr12:123757992 [GRCh38]
Chr12:124242539 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2466-16C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003063722] Chr12:123757911 [GRCh38]
Chr12:124242458 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003088363]|not provided [RCV004820271] Chr12:123718693 [GRCh38]
Chr12:124203240 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002634153] Chr12:123756850 [GRCh38]
Chr12:124241397 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1765C>T (p.Pro589Ser) single nucleotide variant Inborn genetic diseases [RCV004966890] Chr12:123748615 [GRCh38]
Chr12:124233162 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.946A>G (p.Ser316Gly) single nucleotide variant Inborn genetic diseases [RCV004966891] Chr12:123737179 [GRCh38]
Chr12:124221726 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1503G>A (p.Met501Ile) single nucleotide variant Inborn genetic diseases [RCV004966892] Chr12:123744773 [GRCh38]
Chr12:124229320 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1196T>C (p.Phe399Ser) single nucleotide variant Inborn genetic diseases [RCV004966893] Chr12:123744207 [GRCh38]
Chr12:124228754 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2062T>C (p.Tyr688His) single nucleotide variant Inborn genetic diseases [RCV004966894] Chr12:123752289 [GRCh38]
Chr12:124236836 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2530C>G (p.Leu844Val) single nucleotide variant Inborn genetic diseases [RCV004966895] Chr12:123757991 [GRCh38]
Chr12:124242538 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.826-15G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002603374] Chr12:123737044 [GRCh38]
Chr12:124221591 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003051277]|Inborn genetic diseases [RCV003294427] Chr12:123756970 [GRCh38]
Chr12:124241517 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002606550]|Inborn genetic diseases [RCV004676156] Chr12:123743903 [GRCh38]
Chr12:124228450 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003071593] Chr12:123756904 [GRCh38]
Chr12:124241451 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002654898]|not provided [RCV004775309] Chr12:123727818 [GRCh38]
Chr12:124212365 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002611185] Chr12:123751115 [GRCh38]
Chr12:124235662 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003068056] Chr12:123735543 [GRCh38]
Chr12:124220090 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003068311] Chr12:123757970 [GRCh38]
Chr12:124242517 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003070089] Chr12:123737232 [GRCh38]
Chr12:124221779 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003070307] Chr12:123744242 [GRCh38]
Chr12:124228789 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV002612635] Chr12:123748782 [GRCh38]
Chr12:124233329 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2056-2dup duplication not specified [RCV003155843] Chr12:123752280..123752281 [GRCh38]
Chr12:124236827..124236828 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=) single nucleotide variant not provided [RCV003222782] Chr12:123744230 [GRCh38]
Chr12:124228777 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1084A>G (p.Thr362Ala) single nucleotide variant not provided [RCV003143654] Chr12:123743830 [GRCh38]
Chr12:124228377 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.170G>C (p.Arg57Thr) single nucleotide variant Inborn genetic diseases [RCV003201447] Chr12:123718675 [GRCh38]
Chr12:124203222 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1981C>G (p.Pro661Ala) single nucleotide variant Inborn genetic diseases [RCV003356546] Chr12:123751155 [GRCh38]
Chr12:124235702 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1300C>A (p.His434Asn) single nucleotide variant Inborn genetic diseases [RCV003363766] Chr12:123744311 [GRCh38]
Chr12:124228858 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2533C>T (p.Leu845Phe) single nucleotide variant Inborn genetic diseases [RCV003369571] Chr12:123757994 [GRCh38]
Chr12:124242541 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.118-4T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503229] Chr12:123718619 [GRCh38]
Chr12:124203166 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503238] Chr12:123744302 [GRCh38]
Chr12:124228849 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.118-6del deletion ALG9 congenital disorder of glycosylation [RCV003503230] Chr12:123718614 [GRCh38]
Chr12:124203161 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1724+20dup duplication ALG9 congenital disorder of glycosylation [RCV003504239] Chr12:123747736..123747737 [GRCh38]
Chr12:124232283..124232284 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503653] Chr12:123737126 [GRCh38]
Chr12:124221673 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503657] Chr12:123747678 [GRCh38]
Chr12:124232225 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+1del deletion ALG9 congenital disorder of glycosylation [RCV003504570]|Cutis laxa with osteodystrophy [RCV005013034] Chr12:123712683 [GRCh38]
Chr12:124197230 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1605+10C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003504354] Chr12:123744982 [GRCh38]
Chr12:124229529 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+13C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503850] Chr12:123712695 [GRCh38]
Chr12:124197242 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1515-9T>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503999] Chr12:123744873 [GRCh38]
Chr12:124229420 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003504459] Chr12:123744680 [GRCh38]
Chr12:124229227 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003504022] Chr12:123748747 [GRCh38]
Chr12:124233294 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609301]|not provided [RCV003482862] Chr12:123726280 [GRCh38]
Chr12:124210827 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_012463.4(ATP6V0A2):c.117+7G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003504179] Chr12:123712689 [GRCh38]
Chr12:124197236 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502815] Chr12:123724772 [GRCh38]
Chr12:124209319 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2056-10T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003503773] Chr12:123752273 [GRCh38]
Chr12:124236820 [GRCh37]
Chr12:12q24.31
likely benign
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 copy number gain not provided [RCV003484881] Chr12:121551496..133777902 [GRCh37]
Chr12:12q24.31-24.33
pathogenic
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33
pathogenic
GRCh37/hg19 12q24.31(chr12:124232946-124728014)x3 copy number gain not provided [RCV003484883] Chr12:124232946..124728014 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=) single nucleotide variant not provided [RCV003410942] Chr12:123743898 [GRCh38]
Chr12:124228445 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609778] Chr12:123737252 [GRCh38]
Chr12:124221799 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1039-15T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609467] Chr12:123743770 [GRCh38]
Chr12:124228317 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del deletion ALG9 congenital disorder of glycosylation [RCV003609704] Chr12:123744873..123744875 [GRCh38]
Chr12:124229420..124229422 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs) deletion ALG9 congenital disorder of glycosylation [RCV003608745] Chr12:123724735..123724736 [GRCh38]
Chr12:124209282..124209283 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.433-5T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610097] Chr12:123726192 [GRCh38]
Chr12:124210739 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609662] Chr12:123737109 [GRCh38]
Chr12:124221656 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2055+9G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609828] Chr12:123751238 [GRCh38]
Chr12:124235785 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609965] Chr12:123744256 [GRCh38]
Chr12:124228803 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2466-3del deletion ALG9 congenital disorder of glycosylation [RCV003609993] Chr12:123757912 [GRCh38]
Chr12:124242459 [GRCh37]
Chr12:12q24.31
benign
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003608898] Chr12:123747640 [GRCh38]
Chr12:124232187 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609810] Chr12:123748617 [GRCh38]
Chr12:124233164 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609738] Chr12:123744677 [GRCh38]
Chr12:124229224 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609765] Chr12:123754499 [GRCh38]
Chr12:124239046 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610013] Chr12:123748626 [GRCh38]
Chr12:124233173 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609897] Chr12:123754533 [GRCh38]
Chr12:124239080 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610157] Chr12:123747616 [GRCh38]
Chr12:124232163 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1724+11A>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610174] Chr12:123747736 [GRCh38]
Chr12:124232283 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.731+12A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609918] Chr12:123734020 [GRCh38]
Chr12:124218567 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs) deletion ALG9 congenital disorder of glycosylation [RCV003610175] Chr12:123744970 [GRCh38]
Chr12:124229517 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610065] Chr12:123724695 [GRCh38]
Chr12:124209242 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+10G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003608809]|ATP6V0A2-related disorder [RCV003929280] Chr12:123712692 [GRCh38]
Chr12:124197239 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003878756] Chr12:123726223 [GRCh38]
Chr12:124210770 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609000] Chr12:123748680 [GRCh38]
Chr12:124233227 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.294+16C>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003829759] Chr12:123722464 [GRCh38]
Chr12:124207011 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609752] Chr12:123722388 [GRCh38]
Chr12:124206935 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.649-15A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003608801] Chr12:123733911 [GRCh38]
Chr12:124218458 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.294+17G>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609515] Chr12:123722465 [GRCh38]
Chr12:124207012 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+19A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003830213] Chr12:123712701 [GRCh38]
Chr12:124197248 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609476] Chr12:123733943 [GRCh38]
Chr12:124218490 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003608776] Chr12:123751168 [GRCh38]
Chr12:124235715 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609317] Chr12:123744725 [GRCh38]
Chr12:124229272 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609016] Chr12:123744743 [GRCh38]
Chr12:124229290 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609378] Chr12:123756969 [GRCh38]
Chr12:124241516 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609394] Chr12:123748605 [GRCh38]
Chr12:124233152 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609644]|ATP6V0A2-related disorder [RCV003929324] Chr12:123744632 [GRCh38]
Chr12:124229179 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003609425] Chr12:123727906 [GRCh38]
Chr12:124212453 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.731+16A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003878200] Chr12:123734024 [GRCh38]
Chr12:124218571 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003877342] Chr12:123752324 [GRCh38]
Chr12:124236871 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2056-2A>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610715] Chr12:123752281 [GRCh38]
Chr12:124236828 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610370] Chr12:123744259 [GRCh38]
Chr12:124228806 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610955] Chr12:123757933 [GRCh38]
Chr12:124242480 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer) deletion ALG9 congenital disorder of glycosylation [RCV003610439] Chr12:123737082 [GRCh38]
Chr12:124221629 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610639] Chr12:123735567 [GRCh38]
Chr12:124220114 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502354] Chr12:123756891 [GRCh38]
Chr12:124241438 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610579] Chr12:123744661 [GRCh38]
Chr12:124229208 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs) deletion ALG9 congenital disorder of glycosylation [RCV003849744] Chr12:123756825 [GRCh38]
Chr12:124241372 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610823] Chr12:123712655 [GRCh38]
Chr12:124197202 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610912] Chr12:123758014 [GRCh38]
Chr12:124242561 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502171]|Cutis laxa with osteodystrophy [RCV005013044] Chr12:123743935 [GRCh38]
Chr12:124228482 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.826-18C>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610540] Chr12:123737041 [GRCh38]
Chr12:124221588 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.197-14T>A single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003502224] Chr12:123722337 [GRCh38]
Chr12:124206884 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2466-16C>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003610753] Chr12:123757911 [GRCh38]
Chr12:124242458 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003861084] Chr12:123737110 [GRCh38]
Chr12:124221657 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1725-9C>T single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003847897] Chr12:123748566 [GRCh38]
Chr12:124233113 [GRCh37]
Chr12:12q24.31
likely benign
GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1 copy number loss not specified [RCV003986985] Chr12:123640263..124319101 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003846993] Chr12:123724692 [GRCh38]
Chr12:124209239 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.117+20C>G single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003865080] Chr12:123712702 [GRCh38]
Chr12:124197249 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2465+20T>C single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003846169] Chr12:123757006 [GRCh38]
Chr12:124241553 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003858222] Chr12:123744925 [GRCh38]
Chr12:124229472 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=) single nucleotide variant ALG9 congenital disorder of glycosylation [RCV003843507] Chr12:123751208 [GRCh38]
Chr12:124235755 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1672T>G (p.Leu558Val) single nucleotide variant Inborn genetic diseases [RCV004418710] Chr12:123747673 [GRCh38]
Chr12:124232220 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1705C>G (p.Leu569Val) single nucleotide variant Inborn genetic diseases [RCV004418711] Chr12:123747706 [GRCh38]
Chr12:124232253 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.427G>A (p.Val143Ile) single nucleotide variant Inborn genetic diseases [RCV004418714] Chr12:123724786 [GRCh38]
Chr12:124209333 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2359G>A (p.Val787Ile) single nucleotide variant Inborn genetic diseases [RCV004418712] Chr12:123756880 [GRCh38]
Chr12:124241427 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1886A>C (p.Asn629Thr) single nucleotide variant not specified [RCV004526468] Chr12:123748736 [GRCh38]
Chr12:124233283 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.2466-4_2466-3dup duplication ATP6V0A2-related disorder [RCV003896768] Chr12:123757911..123757912 [GRCh38]
Chr12:124242458..124242459 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.177A>G (p.Glu59=) single nucleotide variant ATP6V0A2-related disorder [RCV003964544] Chr12:123718682 [GRCh38]
Chr12:124203229 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1431C>G (p.Asn477Lys) single nucleotide variant ATP6V0A2-related disorder [RCV003937228] Chr12:123744701 [GRCh38]
Chr12:124229248 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1281G>A (p.Leu427=) single nucleotide variant ATP6V0A2-related disorder [RCV003983626] Chr12:123744292 [GRCh38]
Chr12:124228839 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.2388C>T (p.Leu796=) single nucleotide variant ATP6V0A2-related disorder [RCV003964148] Chr12:123756909 [GRCh38]
Chr12:124241456 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1986C>G (p.Val662=) single nucleotide variant ATP6V0A2-related disorder [RCV003899336] Chr12:123751160 [GRCh38]
Chr12:124235707 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.1764C>T (p.Ile588=) single nucleotide variant ATP6V0A2-related disorder [RCV003901456] Chr12:123748614 [GRCh38]
Chr12:124233161 [GRCh37]
Chr12:12q24.31
likely benign
NM_012463.4(ATP6V0A2):c.598A>G (p.Thr200Ala) single nucleotide variant Inborn genetic diseases [RCV004418715] Chr12:123727859 [GRCh38]
Chr12:124212406 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV004696696] Chr12:123712566 [GRCh38]
Chr12:124197113 [GRCh37]
Chr12:12q24.31
likely pathogenic
NC_000012.11:g.(?_120270555)_(124242579_?)dup duplication Deficiency of butyryl-CoA dehydrogenase [RCV004578383] Chr12:120270555..124242579 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.654A>C (p.Glu218Asp) single nucleotide variant Inborn genetic diseases [RCV004680293] Chr12:123733931 [GRCh38]
Chr12:124218478 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.874G>A (p.Ala292Thr) single nucleotide variant Inborn genetic diseases [RCV004680294] Chr12:123737107 [GRCh38]
Chr12:124221654 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.313G>A (p.Glu105Lys) single nucleotide variant Inborn genetic diseases [RCV004676345]|not specified [RCV004587684] Chr12:123724672 [GRCh38]
Chr12:124209219 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs) deletion Cutis laxa with osteodystrophy [RCV004690466] Chr12:123743792 [GRCh38]
Chr12:124228339 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1650C>G (p.Phe550Leu) single nucleotide variant Inborn genetic diseases [RCV004680285] Chr12:123747651 [GRCh38]
Chr12:124232198 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.11:g.(?_124171363)_(124242579_?)del deletion Familial aplasia of the vermis [RCV004578391] Chr12:124171363..124242579 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1529G>T (p.Arg510Ile) single nucleotide variant not specified [RCV004699807] Chr12:123744896 [GRCh38]
Chr12:124229443 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1562T>C (p.Ile521Thr) single nucleotide variant not provided [RCV004772600] Chr12:123744929 [GRCh38]
Chr12:124229476 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1236del (p.Phe412fs) deletion not provided [RCV004781062] Chr12:123744245 [GRCh38]
Chr12:124228792 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.1453G>A (p.Val485Met) single nucleotide variant not provided [RCV004781454] Chr12:123744723 [GRCh38]
Chr12:124229270 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.82G>T (p.Ala28Ser) single nucleotide variant not provided [RCV004811315] Chr12:123712647 [GRCh38]
Chr12:124197194 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=) single nucleotide variant not provided [RCV004766430] Chr12:123743862 [GRCh38]
Chr12:124228409 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.466G>C (p.Glu156Gln) single nucleotide variant not provided [RCV004761568]   uncertain significance
NM_012463.4(ATP6V0A2):c.724T>G (p.Cys242Gly) single nucleotide variant not provided [RCV004773870] Chr12:123734001 [GRCh38]
Chr12:124218548 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg) single nucleotide variant Cutis laxa with osteodystrophy [RCV004767606] Chr12:123747610 [GRCh38]
Chr12:124232157 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.2136C>G (p.His712Gln) single nucleotide variant ATP6V0A2-related disorder [RCV004757650] Chr12:123752363 [GRCh38]
Chr12:124236910 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1805T>C (p.Ile602Thr) single nucleotide variant ATP6V0A2-related disorder [RCV004757651] Chr12:123748655 [GRCh38]
Chr12:124233202 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.1627C>T (p.Arg543Cys) single nucleotide variant Inborn genetic diseases [RCV004968626]|not provided [RCV004762398]   uncertain significance
NM_012463.4(ATP6V0A2):c.743A>G (p.His248Arg) single nucleotide variant not provided [RCV005052715] Chr12:123735542 [GRCh38]
Chr12:124220089 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer) deletion Cutis laxa with osteodystrophy [RCV005008884] Chr12:123718635 [GRCh38]
Chr12:124203182 [GRCh37]
Chr12:12q24.31
pathogenic
NM_012463.4(ATP6V0A2):c.726T>A (p.Cys242Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV005008886] Chr12:123734003 [GRCh38]
Chr12:124218550 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.208C>T (p.Gln70Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV005008885] Chr12:123722362 [GRCh38]
Chr12:124206909 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1724+2T>C single nucleotide variant Cutis laxa with osteodystrophy [RCV005008889] Chr12:123747727 [GRCh38]
Chr12:124232274 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.124C>T (p.Gln42Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV005008883] Chr12:123718629 [GRCh38]
Chr12:124203176 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.1418C>G (p.Ser473Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV005008888] Chr12:123744688 [GRCh38]
Chr12:124229235 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.2137C>T (p.Gln713Ter) single nucleotide variant Cutis laxa with osteodystrophy [RCV005008890] Chr12:123752364 [GRCh38]
Chr12:124236911 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_012463.4(ATP6V0A2):c.2442del (p.Leu815fs) deletion Cutis laxa with osteodystrophy [RCV005008891] Chr12:123756961 [GRCh38]
Chr12:124241508 [GRCh37]
Chr12:12q24.31
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2189
Count of miRNA genes:1038
Interacting mature miRNAs:1254
Transcripts:ENST00000330342, ENST00000504192, ENST00000534943, ENST00000536426, ENST00000540368, ENST00000543687, ENST00000544833, ENST00000545059
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
597257311GWAS1353385_HBMI-adjusted waist-hip ratio QTL GWAS1353385 (human)1e-17body size trait (VT:0100005)12123717449123717451Human
597369995GWAS1466069_Hadiponectin measurement QTL GWAS1466069 (human)3e-10adiponectin measurementblood adiponectin level (CMO:0000485)12123719285123719286Human
597243594GWAS1339668_Hhigh density lipoprotein cholesterol measurement QTL GWAS1339668 (human)2e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12123760389123760390Human
597315341GWAS1411415_HBMI-adjusted waist circumference QTL GWAS1411415 (human)2e-15body size trait (VT:0100005)12123717449123717451Human
597396492GWAS1492566_Hvaginal microbiome measurement QTL GWAS1492566 (human)0.000008vaginal microbiome measurement12123732489123732490Human
597194177GWAS1290251_Hsexual dimorphism measurement QTL GWAS1290251 (human)4e-09sexual dimorphism measurement12123716977123716978Human
597512004GWAS1608078_HBMI-adjusted waist circumference QTL GWAS1608078 (human)2e-10body size trait (VT:0100005)12123719285123719286Human
597325638GWAS1421712_HFEV/FVC ratio QTL GWAS1421712 (human)3e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)12123740526123740527Human
597315334GWAS1411408_HBMI-adjusted waist circumference QTL GWAS1411408 (human)9e-11body size trait (VT:0100005)12123743414123743415Human
597060596GWAS1156670_HFEV/FVC ratio QTL GWAS1156670 (human)1e-09FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)12123738140123738141Human
597258685GWAS1354759_HBMI-adjusted waist-hip ratio QTL GWAS1354759 (human)9e-19body size trait (VT:0100005)12123717449123717451Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
597049203GWAS1145277_HBMI-adjusted waist-hip ratio QTL GWAS1145277 (human)2e-11body size trait (VT:0100005)12123730347123730348Human
597258687GWAS1354761_HBMI-adjusted waist-hip ratio QTL GWAS1354761 (human)2e-16body size trait (VT:0100005)12123743414123743415Human
597385596GWAS1481670_Hbody mass index QTL GWAS1481670 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)12123719285123719286Human
597491573GWAS1587647_Haging QTL GWAS1587647 (human)0.0000009aging12123731935123731936Human
597407088GWAS1503162_HBMI-adjusted waist-hip ratio QTL GWAS1503162 (human)2e-16body size trait (VT:0100005)12123719285123719286Human
597400687GWAS1496761_Hneutrophil count QTL GWAS1496761 (human)7e-09neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)12123731935123731936Human
597218349GWAS1314423_HBMI-adjusted waist circumference QTL GWAS1314423 (human)2e-12body size trait (VT:0100005)12123717449123717451Human
597218350GWAS1314424_HBMI-adjusted waist circumference QTL GWAS1314424 (human)1e-11body size trait (VT:0100005)12123743414123743415Human
597517866GWAS1613940_Hbody mass index QTL GWAS1613940 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)12123719285123719286Human
597257312GWAS1353386_HBMI-adjusted waist-hip ratio QTL GWAS1353386 (human)4e-09body size trait (VT:0100005)12123758010123758011Human
597257314GWAS1353388_HBMI-adjusted waist-hip ratio QTL GWAS1353388 (human)1e-15body size trait (VT:0100005)12123743414123743415Human
597452195GWAS1548269_HBMI-adjusted waist circumference QTL GWAS1548269 (human)3e-12body size trait (VT:0100005)12123719285123719286Human

Markers in Region
WI-13960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712124,246,152 - 124,246,283UniSTSGRCh37
Build 3612122,812,105 - 122,812,236RGDNCBI36
Celera12123,842,543 - 123,842,674RGD
Cytogenetic Map12q24.31UniSTS
HuRef12121,207,341 - 121,207,472UniSTS
GeneMap99-GB4 RH Map12478.74UniSTS
Whitehead-RH Map12603.6UniSTS
RH92322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712124,244,273 - 124,244,442UniSTSGRCh37
Build 3612122,810,226 - 122,810,395RGDNCBI36
Celera12123,840,664 - 123,840,833RGD
Cytogenetic Map12q24.31UniSTS
HuRef12121,205,462 - 121,205,631UniSTS
GeneMap99-GB4 RH Map12484.73UniSTS
GC24S19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712124,241,291 - 124,241,618UniSTSGRCh37
Build 3612122,807,244 - 122,807,571RGDNCBI36
Celera12123,837,682 - 123,838,009RGD
HuRef12121,202,480 - 121,202,807UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC117503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG106215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG167832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG759946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI562012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ050095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX328381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB960860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD654920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA737084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R51339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000330342   ⟹   ENSP00000332247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,712,353 - 123,761,755 (+)Ensembl
Ensembl Acc Id: ENST00000504192   ⟹   ENSP00000443441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,723,210 - 123,744,645 (+)Ensembl
Ensembl Acc Id: ENST00000534943   ⟹   ENSP00000443726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,749,996 - 123,758,015 (+)Ensembl
Ensembl Acc Id: ENST00000536426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,738,959 - 123,747,726 (+)Ensembl
Ensembl Acc Id: ENST00000540368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,712,535 - 123,755,441 (+)Ensembl
Ensembl Acc Id: ENST00000543687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,756,327 - 123,758,687 (+)Ensembl
Ensembl Acc Id: ENST00000544833   ⟹   ENSP00000441143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,753,991 - 123,758,220 (+)Ensembl
Ensembl Acc Id: ENST00000545059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,730,642 - 123,744,963 (+)Ensembl
Ensembl Acc Id: ENST00000613625   ⟹   ENSP00000482236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,712,356 - 123,737,644 (+)Ensembl
Ensembl Acc Id: ENST00000674794   ⟹   ENSP00000502672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,727,822 - 123,755,274 (+)Ensembl
Ensembl Acc Id: ENST00000675260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,743,472 - 123,753,116 (+)Ensembl
Ensembl Acc Id: ENST00000675344   ⟹   ENSP00000501953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,712,447 - 123,758,456 (+)Ensembl
Ensembl Acc Id: ENST00000676034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12123,712,583 - 123,719,576 (+)Ensembl
RefSeq Acc Id: NM_012463   ⟹   NP_036595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812123,712,353 - 123,761,755 (+)NCBI
GRCh3712124,196,865 - 124,246,302 (+)ENTREZGENE
GRCh3712124,196,865 - 124,246,302 (+)NCBI
Build 3612122,762,818 - 122,810,394 (+)NCBI Archive
HuRef12121,158,054 - 121,207,491 (+)ENTREZGENE
CHM1_112124,017,815 - 124,067,195 (+)NCBI
T2T-CHM13v2.012123,711,219 - 123,760,679 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448910   ⟹   XP_024304678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812123,712,353 - 123,761,755 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448911   ⟹   XP_024304679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812123,724,683 - 123,761,755 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448912   ⟹   XP_024304680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812123,736,186 - 123,761,755 (+)NCBI
Sequence: