A2ML1 (alpha-2-macroglobulin like 1) - Rat Genome Database

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Gene: A2ML1 (alpha-2-macroglobulin like 1) Homo sapiens
Analyze
Symbol: A2ML1
Name: alpha-2-macroglobulin like 1
RGD ID: 1606453
HGNC Page HGNC:23336
Description: Enables peptidase inhibitor activity. Located in extracellular space. Implicated in otitis media.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-2-macroglobulin-like 1; alpha-2-macroglobulin-like protein 1; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9; C3 and PZP-like, alpha-2-macroglobulin domain containing 9; CPAMD9; DKFZp686C1729; DKFZp686D2011; DKFZp686G1812; DKFZp686L1821; DKFZp686O1010; FLJ16045; FLJ25179; FLJ39129; FLJ41597; FLJ41598; FLJ41607; OMS; p170
RGD Orthologs
Bonobo
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,822,621 - 8,887,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,822,621 - 8,887,001 (+)EnsemblGRCh38hg38GRCh38
GRCh37128,975,217 - 9,029,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36128,866,417 - 8,920,646 (+)NCBINCBI36Build 36hg18NCBI36
Celera1210,512,687 - 10,566,801 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef128,757,142 - 8,810,010 (+)NCBIHuRef
CHM1_1128,944,605 - 8,997,761 (+)NCBICHM1_1
T2T-CHM13v2.0128,805,910 - 8,869,474 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10737800   PMID:12477932   PMID:14702039   PMID:16298998   PMID:16344560   PMID:17562024   PMID:18648652   PMID:19199708   PMID:19204726   PMID:20805888   PMID:21873635   PMID:23376485  
PMID:23407400   PMID:24097068   PMID:24366813   PMID:24550385   PMID:24613305   PMID:24939586   PMID:25324306   PMID:25609649   PMID:25862627   PMID:26121085   PMID:26186194   PMID:26485645  
PMID:27484237   PMID:27799062   PMID:28514442   PMID:29084334   PMID:29402968   PMID:29467282   PMID:29509190   PMID:31009165   PMID:31409639   PMID:31594818   PMID:32687490   PMID:32707033  
PMID:32989256   PMID:33082526   PMID:33961781   PMID:34732716   PMID:35271311   PMID:35641520   PMID:35831314   PMID:35831895   PMID:35850772   PMID:36719978   PMID:36898370   PMID:37954860  


Genomics

Comparative Map Data
A2ML1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,822,621 - 8,887,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,822,621 - 8,887,001 (+)EnsemblGRCh38hg38GRCh38
GRCh37128,975,217 - 9,029,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36128,866,417 - 8,920,646 (+)NCBINCBI36Build 36hg18NCBI36
Celera1210,512,687 - 10,566,801 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef128,757,142 - 8,810,010 (+)NCBIHuRef
CHM1_1128,944,605 - 8,997,761 (+)NCBICHM1_1
T2T-CHM13v2.0128,805,910 - 8,869,474 (+)NCBIT2T-CHM13v2.0
A2ML1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21014,350,503 - 14,406,468 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11214,347,263 - 14,403,228 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0128,909,111 - 8,961,857 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1129,123,524 - 9,193,778 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl129,122,447 - 9,192,371 (+)Ensemblpanpan1.1panPan2
A2ML1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12736,844,292 - 36,882,274 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2736,844,572 - 36,883,887 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha279,742,223 - 9,772,407 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02737,193,157 - 37,223,156 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2737,193,455 - 37,233,035 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12737,073,782 - 37,103,765 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02737,108,930 - 37,138,923 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0279,250,894 - 9,303,905 (+)NCBIUU_Cfam_GSD_1.0
A2ML1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl562,609,408 - 62,648,400 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1562,603,260 - 62,648,170 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2565,445,120 - 65,497,700 (-)NCBISscrofa10.2Sscrofa10.2susScr3
A2ML1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1118,638,320 - 8,695,696 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl118,638,826 - 8,693,355 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666089734,884 - 784,242 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in A2ML1
1376 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_144670.6(A2ML1):c.2849-249_2849-247del deletion not provided [RCV001608935] Chr12:8856899..8856901 [GRCh38]
Chr12:9009495..9009497 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.728+206G>A single nucleotide variant not provided [RCV001766323] Chr12:8836545 [GRCh38]
Chr12:8989141 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2401G>T (p.Val801Phe) single nucleotide variant not provided [RCV000521951] Chr12:8851950 [GRCh38]
Chr12:9004546 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1261A>T (p.Met421Leu) single nucleotide variant not provided [RCV000520000] Chr12:8843146 [GRCh38]
Chr12:8995742 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.4(A2ML1):c.1156A>G (p.Thr386Ala) single nucleotide variant Malignant melanoma [RCV000070249] Chr12:8841444 [GRCh38]
Chr12:8994040 [GRCh37]
Chr12:8885307 [NCBI36]
Chr12:12p13.31		 not provided
NM_144670.6(A2ML1):c.2849G>A (p.Gly950Glu) single nucleotide variant not provided [RCV000658437] Chr12:8857164 [GRCh38]
Chr12:9009760 [GRCh37]
Chr12:8901027 [NCBI36]
Chr12:12p13.31		 uncertain significance|not provided
NM_144670.4(A2ML1):c.4001G>A (p.Gly1334Glu) single nucleotide variant Malignant melanoma [RCV000062617] Chr12:8868297 [GRCh38]
Chr12:9020893 [GRCh37]
Chr12:8912160 [NCBI36]
Chr12:12p13.31		 not provided
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) single nucleotide variant not provided [RCV000106332]|not specified [RCV000464459] Chr12:8841397 [GRCh38]
Chr12:8993993 [GRCh37]
Chr12:12p13.31		 benign|not provided
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) single nucleotide variant Otitis media, susceptibility to [RCV002483174]|not provided [RCV000106333] Chr12:8848804 [GRCh38]
Chr12:9001400 [GRCh37]
Chr12:12p13.31		 uncertain significance|not provided
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) single nucleotide variant A2ML1-related condition [RCV003935087]|not provided [RCV000106334]|not specified [RCV001193835] Chr12:8823762 [GRCh38]
Chr12:8976358 [GRCh37]
Chr12:12p13.31		 benign|likely benign|not provided
NM_144670.6(A2ML1):c.3287C>T (p.Ser1096Phe) single nucleotide variant not provided [RCV000106335] Chr12:8860903 [GRCh38]
Chr12:9013499 [GRCh37]
Chr12:12p13.31		 not provided
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) single nucleotide variant not provided [RCV000106336]|not specified [RCV000469664] Chr12:8835642 [GRCh38]
Chr12:8988238 [GRCh37]
Chr12:12p13.31		 benign|not provided
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) single nucleotide variant not provided [RCV000106337]|not specified [RCV001705816] Chr12:8838341 [GRCh38]
Chr12:8990937 [GRCh37]
Chr12:12p13.31		 benign|not provided
NM_001282424.1(A2ML1):c.1376-396T>C single nucleotide variant Lung cancer [RCV000097523] Chr12:8856768 [GRCh38]
Chr12:9009364 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1476+16G>A single nucleotide variant not provided [RCV002184896] Chr12:8843377 [GRCh38]
Chr12:8995973 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4010G>C (p.Arg1337Thr) single nucleotide variant not provided [RCV003104221] Chr12:8868306 [GRCh38]
Chr12:9020902 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1248+29A>T single nucleotide variant not provided [RCV001766142] Chr12:8841565 [GRCh38]
Chr12:8994161 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.644-222_644-221del deletion not provided [RCV001766161] Chr12:8836013..8836014 [GRCh38]
Chr12:8988609..8988610 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2087A>T (p.His696Leu) single nucleotide variant not provided [RCV001348548] Chr12:8849727 [GRCh38]
Chr12:9002323 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.855+34G>A single nucleotide variant not provided [RCV001766324] Chr12:8837600 [GRCh38]
Chr12:8990196 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.216G>A (p.Lys72=) single nucleotide variant A2ML1-related condition [RCV003956091]|Inborn genetic diseases [RCV002432389]|not provided [RCV001494239] Chr12:8823335 [GRCh38]
Chr12:8975931 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=) single nucleotide variant not provided [RCV001480619]|not specified [RCV001290601] Chr12:8860910 [GRCh38]
Chr12:9013506 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1345A>G (p.Thr449Ala) single nucleotide variant not provided [RCV001302471] Chr12:8843230 [GRCh38]
Chr12:8995826 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
NM_144670.6(A2ML1):c.965G>A (p.Gly322Glu) single nucleotide variant not provided [RCV001348419] Chr12:8838445 [GRCh38]
Chr12:8991041 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.957G>A (p.Val319=) single nucleotide variant not provided [RCV001348914] Chr12:8838437 [GRCh38]
Chr12:8991033 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
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 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3 copy number gain See cases [RCV000141433] Chr12:8839030..9134304 [GRCh38]
Chr12:8991626..9286900 [GRCh37]
Chr12:8882893..9178167 [NCBI36]
Chr12:12p13.31		 uncertain significance
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) duplication Nonsyndromic otitis media [RCV000201239]|Otitis media, susceptibility to [RCV000660876]|not provided [RCV003546493] Chr12:8852222..8852223 [GRCh38]
Chr12:9004818..9004819 [GRCh37]
Chr12:12p13.31		 pathogenic|risk factor|uncertain significance
NM_144670.6(A2ML1):c.3001C>T (p.Arg1001Trp) single nucleotide variant A2ML1-related condition [RCV003401084]|Nonsyndromic otitis media [RCV000201240] Chr12:8857316 [GRCh38]
Chr12:9009912 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2428G>A (p.Ala810Thr) single nucleotide variant Nonsyndromic otitis media [RCV000201241] Chr12:8851977 [GRCh38]
Chr12:9004573 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.763C>T (p.Gln255Ter) single nucleotide variant Nonsyndromic otitis media [RCV000201246] Chr12:8837474 [GRCh38]
Chr12:8990070 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) single nucleotide variant Nonsyndromic otitis media [RCV000201249]|Otitis media, susceptibility to [RCV000714860]|not provided [RCV001303988]|not specified [RCV002307443] Chr12:8854214 [GRCh38]
Chr12:9006810 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.4292C>T (p.Ala1431Val) single nucleotide variant Nonsyndromic otitis media [RCV000201251] Chr12:8874495 [GRCh38]
Chr12:9027091 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1067C>G (p.Pro356Arg) single nucleotide variant Nonsyndromic otitis media [RCV000201255] Chr12:8839209 [GRCh38]
Chr12:8991805 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) single nucleotide variant A2ML1-related condition [RCV003907751]|Nonsyndromic otitis media [RCV000201258]|not provided [RCV000456583] Chr12:8838367 [GRCh38]
Chr12:8990963 [GRCh37]
Chr12:12p13.31		 pathogenic|benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.2914G>T (p.Glu972Ter) single nucleotide variant Nonsyndromic otitis media [RCV000201259] Chr12:8857229 [GRCh38]
Chr12:9009825 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462+9GGA[2] microsatellite not provided [RCV000514252]|not specified [RCV001193880] Chr12:8829788..8829790 [GRCh38]
Chr12:8982384..8982386 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) single nucleotide variant A2ML1-related condition [RCV003937655]|Noonan syndrome [RCV001251215]|not provided [RCV000185643]|not specified [RCV001201332] Chr12:8851954 [GRCh38]
Chr12:9004550 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.2405G>T (p.Arg802Leu) single nucleotide variant not provided [RCV000185644] Chr12:8851954 [GRCh38]
Chr12:9004550 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) single nucleotide variant not provided [RCV000185645]|not specified [RCV001201248] Chr12:8847640 [GRCh38]
Chr12:9000236 [GRCh37]
Chr12:12p13.31		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
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_144670.6(A2ML1):c.621T>C (p.Gly207=) single nucleotide variant A2ML1-related condition [RCV003917857]|Inborn genetic diseases [RCV002363053]|not provided [RCV000858353]|not specified [RCV000210501] Chr12:8835644 [GRCh38]
Chr12:8988240 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2007G>A (p.Thr669=) single nucleotide variant Inborn genetic diseases [RCV002415883]|not provided [RCV000210511] Chr12:8848893 [GRCh38]
Chr12:9001489 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) single nucleotide variant Inborn genetic diseases [RCV002415882]|Otitis media, susceptibility to [RCV002478760]|not provided [RCV000858024]|not specified [RCV000210521] Chr12:8823315 [GRCh38]
Chr12:8975911 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.200A>T (p.Glu67Val) single nucleotide variant not provided [RCV000858397]|not specified [RCV000229999] Chr12:8823319 [GRCh38]
Chr12:8975915 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) single nucleotide variant Inborn genetic diseases [RCV002379029]|Otitis media, susceptibility to [RCV002479933]|not provided [RCV000858489]|not specified [RCV000230712] Chr12:8822660 [GRCh38]
Chr12:8975256 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3380C>T (p.Ser1127Leu) single nucleotide variant not provided [RCV000857899]|not specified [RCV000228943] Chr12:8861175 [GRCh38]
Chr12:9013771 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1444_1445del (p.Ser482fs) deletion not provided [RCV000858321]|not specified [RCV000229321] Chr12:8843329..8843330 [GRCh38]
Chr12:8995925..8995926 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) single nucleotide variant Inborn genetic diseases [RCV002444927]|not provided [RCV000857931]|not specified [RCV000229555] Chr12:8851801 [GRCh38]
Chr12:9004397 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3804C>G (p.Ser1268=) single nucleotide variant not provided [RCV000229607] Chr12:8867928 [GRCh38]
Chr12:9020524 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.483+7G>A single nucleotide variant not provided [RCV000586324] Chr12:8834689 [GRCh38]
Chr12:8987285 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1476+8C>T single nucleotide variant Otitis media, susceptibility to [RCV002500820]|not provided [RCV000858471]|not specified [RCV000232176] Chr12:8843369 [GRCh38]
Chr12:8995965 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val) single nucleotide variant Inborn genetic diseases [RCV002321890]|not provided [RCV001339827]|not specified [RCV000230430] Chr12:8857992 [GRCh38]
Chr12:9010588 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.2713-8C>A single nucleotide variant A2ML1-related condition [RCV003939894]|Otitis media [RCV001261820]|Otitis media, susceptibility to [RCV000768667]|not provided [RCV000680980]|not specified [RCV001194018] Chr12:8854772 [GRCh38]
Chr12:9007368 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.2027G>A (p.Arg676Gln) single nucleotide variant Inborn genetic diseases [RCV003165652]|not provided [RCV000232853]|not specified [RCV001844098] Chr12:8848913 [GRCh38]
Chr12:9001509 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2464-4G>A single nucleotide variant not provided [RCV000231341] Chr12:8852206 [GRCh38]
Chr12:9004802 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1686T>G (p.Val562=) single nucleotide variant not provided [RCV000857930]|not specified [RCV000226029] Chr12:8847551 [GRCh38]
Chr12:9000147 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3297G>C (p.Ala1099=) single nucleotide variant Inborn genetic diseases [RCV002321892]|not provided [RCV000226086] Chr12:8860913 [GRCh38]
Chr12:9013509 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile) single nucleotide variant Inborn genetic diseases [RCV002356312]|not provided [RCV000858132]|not specified [RCV000233054] Chr12:8835613 [GRCh38]
Chr12:8988209 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2550= (p.Asp850=) single nucleotide variant not provided [RCV000587184] Chr12:8852296 [GRCh38]
Chr12:9004892 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met) single nucleotide variant not provided [RCV000858199]|not specified [RCV000231779] Chr12:8861187 [GRCh38]
Chr12:9013783 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) single nucleotide variant A2ML1-related condition [RCV003955374]|Inborn genetic diseases [RCV003165653]|not provided [RCV000858359]|not specified [RCV000226363] Chr12:8868027 [GRCh38]
Chr12:9020623 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.1368C>T (p.His456=) single nucleotide variant A2ML1-related condition [RCV003977690]|Inborn genetic diseases [RCV002379028]|not provided [RCV000858004]|not specified [RCV000226478] Chr12:8843253 [GRCh38]
Chr12:8995849 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3686= (p.His1229=) single nucleotide variant not provided [RCV000226756]|not specified [RCV001192603] Chr12:8863977 [GRCh38]
Chr12:9016573 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2295G>A (p.Ala765=) single nucleotide variant not provided [RCV000858133]|not specified [RCV000233541] Chr12:8851844 [GRCh38]
Chr12:9004440 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3272T>C (p.Val1091Ala) single nucleotide variant not provided [RCV000680351]|not specified [RCV001193272] Chr12:8860888 [GRCh38]
Chr12:9013484 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) single nucleotide variant A2ML1-related condition [RCV003955373]|Inborn genetic diseases [RCV002436043]|not provided [RCV000233753]|not specified [RCV001293507] Chr12:8855585 [GRCh38]
Chr12:9008181 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) single nucleotide variant A2ML1-related condition [RCV003930003]|Inborn genetic diseases [RCV002321891]|not provided [RCV000680349]|not specified [RCV001193989] Chr12:8858090 [GRCh38]
Chr12:9010686 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) single nucleotide variant A2ML1-related condition [RCV003930004]|Inborn genetic diseases [RCV002365220]|not provided [RCV000433204]|not specified [RCV001192598] Chr12:8868004 [GRCh38]
Chr12:9020600 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) single nucleotide variant not provided [RCV000228261]|not specified [RCV001194017] Chr12:8860885 [GRCh38]
Chr12:9013481 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2985G>A (p.Thr995=) single nucleotide variant Inborn genetic diseases [RCV002436044]|not provided [RCV000228719] Chr12:8857300 [GRCh38]
Chr12:9009896 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2243G>A (p.Gly748Glu) single nucleotide variant A2ML1-related condition [RCV003939893]|not provided [RCV000858503]|not specified [RCV000226688] Chr12:8851792 [GRCh38]
Chr12:9004388 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) single nucleotide variant A2ML1-related condition [RCV003947798]|Inborn genetic diseases [RCV002429137]|not provided [RCV000858358]|not specified [RCV000226913] Chr12:8852306 [GRCh38]
Chr12:9004902 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_144670.6(A2ML1):c.2379C>G (p.Asp793Glu) single nucleotide variant Inborn genetic diseases [RCV002450708]|not provided [RCV001315846] Chr12:8851928 [GRCh38]
Chr12:9004524 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3108-3dup duplication Otitis media, susceptibility to [RCV002494686]|not provided [RCV001081442]|not specified [RCV000239339] Chr12:8857942..8857943 [GRCh38]
Chr12:9010538..9010539 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.1678A>G (p.Asn560Asp) single nucleotide variant not provided [RCV000308933]|not specified [RCV001201327] Chr12:8846217 [GRCh38]
Chr12:8998813 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2945T>C (p.Ile982Thr) single nucleotide variant Inborn genetic diseases [RCV002519050]|not provided [RCV000275941] Chr12:8857260 [GRCh38]
Chr12:9009856 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2300G>C (p.Ser767Thr) single nucleotide variant not provided [RCV000275981] Chr12:8851849 [GRCh38]
Chr12:9004445 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) duplication A2ML1-related condition [RCV003947885]|not provided [RCV000281991]|not specified [RCV001532916] Chr12:8823292..8823293 [GRCh38]
Chr12:8975888..8975889 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.787A>C (p.Asn263His) single nucleotide variant not provided [RCV000387186] Chr12:8837498 [GRCh38]
Chr12:8990094 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2416T>C (p.Phe806Leu) single nucleotide variant not provided [RCV000387498] Chr12:8851965 [GRCh38]
Chr12:9004561 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4097T>C (p.Ile1366Thr) single nucleotide variant not provided [RCV000322600] Chr12:8868572 [GRCh38]
Chr12:9021168 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr) single nucleotide variant Inborn genetic diseases [RCV002429209]|not provided [RCV000266577] Chr12:8850216 [GRCh38]
Chr12:9002812 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg) single nucleotide variant not specified [RCV001269109] Chr12:8868267 [GRCh38]
Chr12:9020863 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) single nucleotide variant A2ML1-related condition [RCV003925423]|Inborn genetic diseases [RCV002446953]|Otitis media, susceptibility to [RCV002475964]|not provided [RCV000512853] Chr12:8852210 [GRCh38]
Chr12:9004806 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) single nucleotide variant Inborn genetic diseases [RCV002438603]|not provided [RCV000866275]|not specified [RCV000605520] Chr12:8857318 [GRCh38]
Chr12:9009914 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2764+20del deletion not provided [RCV002065268]|not specified [RCV000605130] Chr12:8854850 [GRCh38]
Chr12:9007446 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) single nucleotide variant A2ML1-related condition [RCV003420289]|Inborn genetic diseases [RCV002406660]|not provided [RCV000728817]|not specified [RCV001201330] Chr12:8848742 [GRCh38]
Chr12:9001338 [GRCh37]
Chr12:12p13.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp) single nucleotide variant not specified [RCV000412801] Chr12:8823290 [GRCh38]
Chr12:8975886 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.*1+1G>A single nucleotide variant not provided [RCV000413413] Chr12:8875013 [GRCh38]
Chr12:9027609 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3233A>T (p.Asn1078Ile) single nucleotide variant not provided [RCV000413445] Chr12:8858071 [GRCh38]
Chr12:9010667 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter) single nucleotide variant not provided [RCV000420696] Chr12:8839118 [GRCh38]
Chr12:8991714 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) single nucleotide variant not provided [RCV000437678]|not specified [RCV001193990] Chr12:8863860 [GRCh38]
Chr12:9016456 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.186C>T (p.Thr62=) single nucleotide variant not provided [RCV000590415]|not specified [RCV001706633] Chr12:8823305 [GRCh38]
Chr12:8975901 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=) single nucleotide variant not provided [RCV000418011]|not specified [RCV001192599] Chr12:8868316 [GRCh38]
Chr12:9020912 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3843T>C (p.Val1281=) single nucleotide variant not provided [RCV000424163]|not specified [RCV001192597] Chr12:8867967 [GRCh38]
Chr12:9020563 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3897G>A (p.Thr1299=) single nucleotide variant Inborn genetic diseases [RCV002356615]|not provided [RCV000418202] Chr12:8868021 [GRCh38]
Chr12:9020617 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4121G>A (p.Gly1374Glu) single nucleotide variant not provided [RCV000427959] Chr12:8868596 [GRCh38]
Chr12:9021192 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1275A>G (p.Val425=) single nucleotide variant not provided [RCV000587072]|not specified [RCV001706632] Chr12:8843160 [GRCh38]
Chr12:8995756 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) single nucleotide variant Otitis media, susceptibility to [RCV000988784]|not provided [RCV000424570]|not specified [RCV001192604] Chr12:8861159 [GRCh38]
Chr12:9013755 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2367G>A (p.Pro789=) single nucleotide variant not provided [RCV000435200]|not specified [RCV001192605] Chr12:8851916 [GRCh38]
Chr12:9004512 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3769A>G (p.Met1257Val) single nucleotide variant not provided [RCV000435267]|not specified [RCV001192596] Chr12:8867893 [GRCh38]
Chr12:9020489 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1476+9G>A single nucleotide variant not provided [RCV000588725]|not specified [RCV001706631] Chr12:8843370 [GRCh38]
Chr12:8995966 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) single nucleotide variant Inborn genetic diseases [RCV002393044]|not provided [RCV000435475]|not specified [RCV001193836] Chr12:8839192 [GRCh38]
Chr12:8991788 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1683+6A>G single nucleotide variant not provided [RCV000442801]|not specified [RCV001844162] Chr12:8846228 [GRCh38]
Chr12:8998824 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) single nucleotide variant A2ML1-related condition [RCV003960012]|Inborn genetic diseases [RCV002526363]|not provided [RCV000421857]|not specified [RCV001805055] Chr12:8851953 [GRCh38]
Chr12:9004549 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3237G>A (p.Val1079=) single nucleotide variant not provided [RCV000443749]|not specified [RCV001193988] Chr12:8858075 [GRCh38]
Chr12:9010671 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) single nucleotide variant Otitis media, susceptibility to [RCV003640893]|not provided [RCV000588825]|not specified [RCV001706635] Chr12:8857183 [GRCh38]
Chr12:9009779 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) single nucleotide variant A2ML1-related condition [RCV003942382]|Otitis media [RCV001261816]|Otitis media, susceptibility to [RCV000768665]|not provided [RCV000437059]|not specified [RCV002307496] Chr12:8850237 [GRCh38]
Chr12:9002833 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala) single nucleotide variant not provided [RCV000680350]|not specified [RCV001192600] Chr12:8874437 [GRCh38]
Chr12:9027033 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2909G>A (p.Cys970Tyr) single nucleotide variant not provided [RCV000590523] Chr12:8857224 [GRCh38]
Chr12:9009820 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3510C>A (p.Ser1170=) single nucleotide variant not provided [RCV000460993] Chr12:8863801 [GRCh38]
Chr12:9016397 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2029-5A>C single nucleotide variant A2ML1-related condition [RCV003932729]|not provided [RCV000461522]|not specified [RCV001194021] Chr12:8849664 [GRCh38]
Chr12:9002260 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) single nucleotide variant Inborn genetic diseases [RCV002393188]|not provided [RCV000658637]|not specified [RCV001824792] Chr12:8845442 [GRCh38]
Chr12:8998038 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2231T>C (p.Ile744Thr) single nucleotide variant not provided [RCV000680369] Chr12:8850271 [GRCh38]
Chr12:9002867 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.86C>A (p.Ala29Asp) single nucleotide variant not provided [RCV000462448] Chr12:8823205 [GRCh38]
Chr12:8975801 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) single nucleotide variant not provided [RCV000514223]|not specified [RCV001193834] Chr12:8823277 [GRCh38]
Chr12:8975873 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2487G>A (p.Ser829=) single nucleotide variant Inborn genetic diseases [RCV002429583]|not provided [RCV000463098] Chr12:8852233 [GRCh38]
Chr12:9004829 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.297G>A (p.Ser99=) single nucleotide variant Inborn genetic diseases [RCV003168889]|not provided [RCV000465158] Chr12:8823770 [GRCh38]
Chr12:8976366 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2827A>G (p.Lys943Glu) single nucleotide variant not provided [RCV001371326] Chr12:8855571 [GRCh38]
Chr12:9008167 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2834A>T (p.Tyr945Phe) single nucleotide variant Inborn genetic diseases [RCV002436403]|Otitis media, susceptibility to [RCV002481396]|not provided [RCV000465612] Chr12:8855578 [GRCh38]
Chr12:9008174 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) single nucleotide variant A2ML1-related condition [RCV003960058]|Inborn genetic diseases [RCV003168886]|not provided [RCV000858102]|not specified [RCV000466084] Chr12:8850213 [GRCh38]
Chr12:9002809 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.3550A>T (p.Ser1184Cys) single nucleotide variant not provided [RCV000858462]|not specified [RCV000466254] Chr12:8863841 [GRCh38]
Chr12:9016437 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3576A>G (p.Val1192=) single nucleotide variant Inborn genetic diseases [RCV002455862]|not provided [RCV000466762] Chr12:8863867 [GRCh38]
Chr12:9016463 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1101T>C (p.Asp367=) single nucleotide variant not provided [RCV000588623]|not specified [RCV000468269] Chr12:8841389 [GRCh38]
Chr12:8993985 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) single nucleotide variant Inborn genetic diseases [RCV003168887]|not provided [RCV000469393]|not specified [RCV001375601] Chr12:8843213 [GRCh38]
Chr12:8995809 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1471T>C (p.Tyr491His) single nucleotide variant not provided [RCV001343597] Chr12:8843356 [GRCh38]
Chr12:8995952 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg) single nucleotide variant A2ML1-related condition [RCV003925340]|Inborn genetic diseases [RCV003168888]|not provided [RCV000469902]|not specified [RCV001255523] Chr12:8847610 [GRCh38]
Chr12:9000206 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.1348C>T (p.Arg450Cys) single nucleotide variant not provided [RCV001317312] Chr12:8843233 [GRCh38]
Chr12:8995829 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.63-4A>G single nucleotide variant A2ML1-related condition [RCV003972772]|not provided [RCV000470352]|not specified [RCV001269190] Chr12:8823178 [GRCh38]
Chr12:8975774 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg) single nucleotide variant A2ML1-related condition [RCV003960057]|Inborn genetic diseases [RCV002374837]|not provided [RCV000858616]|not specified [RCV000471264] Chr12:8838343 [GRCh38]
Chr12:8990939 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) single nucleotide variant A2ML1-related condition [RCV003902667]|not provided [RCV000471495]|not specified [RCV001193873] Chr12:8868002 [GRCh38]
Chr12:9020598 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) single nucleotide variant A2ML1-related condition [RCV003932708]|not provided [RCV000471513]|not specified [RCV002282151] Chr12:8868551 [GRCh38]
Chr12:9021147 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro) single nucleotide variant not provided [RCV001348774]|not specified [RCV000473694] Chr12:8841519 [GRCh38]
Chr12:8994115 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3789C>G (p.Asn1263Lys) single nucleotide variant not provided [RCV000858726]|not specified [RCV000474241] Chr12:8867913 [GRCh38]
Chr12:9020509 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_144670.6(A2ML1):c.2274C>A (p.Asp758Glu) single nucleotide variant Inborn genetic diseases [RCV002446791]|not provided [RCV000474310] Chr12:8851823 [GRCh38]
Chr12:9004419 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.633G>A (p.Val211=) single nucleotide variant A2ML1-related condition [RCV003902666]|not provided [RCV000858334]|not specified [RCV000475299] Chr12:8835656 [GRCh38]
Chr12:8988252 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1476+8C>G single nucleotide variant not provided [RCV000475543]|not specified [RCV001174924] Chr12:8843369 [GRCh38]
Chr12:8995965 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.463-9C>G single nucleotide variant not provided [RCV000589001]|not specified [RCV000477557] Chr12:8834653 [GRCh38]
Chr12:8987249 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) deletion Otitis media [RCV001261823]|not provided [RCV001081412]|not specified [RCV000456796] Chr12:8863967..8863968 [GRCh38]
Chr12:9016563..9016564 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=) single nucleotide variant Inborn genetic diseases [RCV002436484]|not provided [RCV000457688]|not specified [RCV001251259] Chr12:8854816 [GRCh38]
Chr12:9007412 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) single nucleotide variant A2ML1-related condition [RCV003902641]|not provided [RCV000457721]|not specified [RCV001174796] Chr12:8841525 [GRCh38]
Chr12:8994121 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.467C>T (p.Ser156Phe) single nucleotide variant not provided [RCV001360922] Chr12:8834666 [GRCh38]
Chr12:8987262 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val) single nucleotide variant A2ML1-related condition [RCV003925341]|Inborn genetic diseases [RCV002323777]|not provided [RCV000458355]|not specified [RCV001375603] Chr12:8861141 [GRCh38]
Chr12:9013737 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) single nucleotide variant not provided [RCV000459935]|not specified [RCV001264595] Chr12:8847640 [GRCh38]
Chr12:9000236 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3161T>C (p.Ile1054Thr) single nucleotide variant Inborn genetic diseases [RCV002523298]|not provided [RCV001338063] Chr12:8857999 [GRCh38]
Chr12:9010595 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) single nucleotide variant Noonan syndrome [RCV000503586]|not provided [RCV001431314] Chr12:8843302 [GRCh38]
Chr12:8995898 [GRCh37]
Chr12:12p13.31		 likely benign|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
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
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
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_144670.6(A2ML1):c.1440T>C (p.Asp480=) single nucleotide variant Inborn genetic diseases [RCV002395574]|not provided [RCV000868922]|not specified [RCV000603266] Chr12:8843325 [GRCh38]
Chr12:8995921 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.-16T>C single nucleotide variant not specified [RCV000601457] Chr12:8822636 [GRCh38]
Chr12:8975232 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4022C>T (p.Pro1341Leu) single nucleotide variant Inborn genetic diseases [RCV003305710]|not provided [RCV003561285] Chr12:8868318 [GRCh38]
Chr12:9020914 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.906C>A (p.Asp302Glu) single nucleotide variant Inborn genetic diseases [RCV003305711] Chr12:8838386 [GRCh38]
Chr12:8990982 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1218del (p.Gly407fs) deletion not provided [RCV000625856] Chr12:8841505 [GRCh38]
Chr12:8994101 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1477-13T>C single nucleotide variant not provided [RCV002063923]|not specified [RCV000615199] Chr12:8845429 [GRCh38]
Chr12:8998025 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=) single nucleotide variant Inborn genetic diseases [RCV002456378]|not provided [RCV001473184]|not specified [RCV000606789] Chr12:8861179 [GRCh38]
Chr12:9013775 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4325-18A>T single nucleotide variant not provided [RCV002062172]|not specified [RCV000600303] Chr12:8874953 [GRCh38]
Chr12:9027549 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.159G>A (p.Thr53=) single nucleotide variant Inborn genetic diseases [RCV002404687]|not specified [RCV000615868] Chr12:8823278 [GRCh38]
Chr12:8975874 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) single nucleotide variant A2ML1-related condition [RCV003945465]|Inborn genetic diseases [RCV003160075]|not provided [RCV000861745]|not specified [RCV000609965] Chr12:8851798 [GRCh38]
Chr12:9004394 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.2029-8C>T single nucleotide variant A2ML1-related condition [RCV003953019]|not provided [RCV000864163]|not specified [RCV000606106] Chr12:8849661 [GRCh38]
Chr12:9002257 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.5(A2ML1):c.-42T>A single nucleotide variant not specified [RCV000606139] Chr12:8822610 [GRCh38]
Chr12:8975206 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) single nucleotide variant Inborn genetic diseases [RCV003160097]|not specified [RCV000610364] Chr12:8861290 [GRCh38]
Chr12:9013886 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.5(A2ML1):c.-50C>G single nucleotide variant not specified [RCV000607515] Chr12:8822602 [GRCh38]
Chr12:8975198 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) single nucleotide variant Inborn genetic diseases [RCV002331070]|not provided [RCV000863508]|not specified [RCV000606381] Chr12:8874436 [GRCh38]
Chr12:9027032 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1569C>A (p.Thr523=) single nucleotide variant A2ML1-related condition [RCV003892348]|Inborn genetic diseases [RCV003160103]|not provided [RCV003767592]|not specified [RCV000614429] Chr12:8846108 [GRCh38]
Chr12:8998704 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.933A>G (p.Gln311=) single nucleotide variant Inborn genetic diseases [RCV003310645] Chr12:8838413 [GRCh38]
Chr12:8991009 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4061+11_4061+12del deletion not provided [RCV002062178]|not specified [RCV000609319] Chr12:8868368..8868369 [GRCh38]
Chr12:9020964..9020965 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2712+16del deletion not specified [RCV000603430] Chr12:8854265 [GRCh38]
Chr12:9006861 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2119+9C>T single nucleotide variant not specified [RCV000604089] Chr12:8849768 [GRCh38]
Chr12:9002364 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503-3T>C single nucleotide variant not provided [RCV003727780]|not specified [RCV000606124] Chr12:8863791 [GRCh38]
Chr12:9016387 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) single nucleotide variant not provided [RCV000513269]|not specified [RCV001201337] Chr12:8868296 [GRCh38]
Chr12:9020892 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1236C>T (p.Asp412=) single nucleotide variant A2ML1-related condition [RCV003917923]|Inborn genetic diseases [RCV002368068]|not provided [RCV000865452]|not specified [RCV000606752] Chr12:8841524 [GRCh38]
Chr12:8994120 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2342C>T (p.Thr781Ile) single nucleotide variant not provided [RCV000658638] Chr12:8851891 [GRCh38]
Chr12:9004487 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1201T>C (p.Phe401Leu) single nucleotide variant not provided [RCV000658636] Chr12:8841489 [GRCh38]
Chr12:8994085 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) single nucleotide variant Inborn genetic diseases [RCV003163073]|Noonan syndrome 1 [RCV000677142]|not provided [RCV003558531] Chr12:8861192 [GRCh38]
Chr12:9013788 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3025+63_3025+64insAA insertion not provided [RCV000680894] Chr12:8857403..8857404 [GRCh38]
Chr12:9009999..9010000 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3265-35C>T single nucleotide variant not provided [RCV000680895] Chr12:8860846 [GRCh38]
Chr12:9013442 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4153-206C>A single nucleotide variant not provided [RCV000680897] Chr12:8868929 [GRCh38]
Chr12:9021525 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4152+207G>C single nucleotide variant not provided [RCV000680901] Chr12:8868834 [GRCh38]
Chr12:9021430 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1477-123C>T single nucleotide variant not provided [RCV000680906] Chr12:8845319 [GRCh38]
Chr12:8997915 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3934-32G>C single nucleotide variant not provided [RCV000680943] Chr12:8868198 [GRCh38]
Chr12:9020794 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.63-173A>G single nucleotide variant not provided [RCV000680881] Chr12:8823009 [GRCh38]
Chr12:8975605 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.970+200C>T single nucleotide variant not provided [RCV000680884] Chr12:8838650 [GRCh38]
Chr12:8991246 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1833+213T>C single nucleotide variant not provided [RCV000680890] Chr12:8847911 [GRCh38]
Chr12:9000507 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2234+62A>G single nucleotide variant not provided [RCV000680892] Chr12:8850336 [GRCh38]
Chr12:9002932 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2234+157T>A single nucleotide variant not provided [RCV000680893] Chr12:8850431 [GRCh38]
Chr12:9003027 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4152+33C>T single nucleotide variant not provided [RCV000680896] Chr12:8868660 [GRCh38]
Chr12:9021256 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.484-181T>C single nucleotide variant not provided [RCV000680903] Chr12:8835326 [GRCh38]
Chr12:8987922 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503-181G>A single nucleotide variant not provided [RCV000680854] Chr12:8863613 [GRCh38]
Chr12:9016209 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3503-183A>G single nucleotide variant not provided [RCV000680853] Chr12:8863611 [GRCh38]
Chr12:9016207 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.1477-197G>T single nucleotide variant not provided [RCV000680860] Chr12:8845245 [GRCh38]
Chr12:8997841 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.729-120A>G single nucleotide variant not provided [RCV000680883] Chr12:8837320 [GRCh38]
Chr12:8989916 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.643+141A>C single nucleotide variant not provided [RCV000680882] Chr12:8835807 [GRCh38]
Chr12:8988403 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+249C>A single nucleotide variant not provided [RCV000680887] Chr12:8864257 [GRCh38]
Chr12:9016853 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.484-179A>T single nucleotide variant not provided [RCV000680904] Chr12:8835328 [GRCh38]
Chr12:8987924 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1249-207C>G single nucleotide variant not provided [RCV000680849] Chr12:8842927 [GRCh38]
Chr12:8995523 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2712+186C>G single nucleotide variant not provided [RCV000680886] Chr12:8854435 [GRCh38]
Chr12:9007031 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2028+207T>C single nucleotide variant not provided [RCV000680891] Chr12:8849121 [GRCh38]
Chr12:9001717 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4325-138A>G single nucleotide variant not provided [RCV000680898] Chr12:8874833 [GRCh38]
Chr12:9027429 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+61G>C single nucleotide variant not provided [RCV000680900] Chr12:8864069 [GRCh38]
Chr12:9016665 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3718-110T>C single nucleotide variant not provided [RCV000680942] Chr12:8867732 [GRCh38]
Chr12:9020328 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_144670.6(A2ML1):c.1080+152G>A single nucleotide variant not provided [RCV000680862] Chr12:8839374 [GRCh38]
Chr12:8991970 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2848+130G>C single nucleotide variant not provided [RCV000680855] Chr12:8855722 [GRCh38]
Chr12:9008318 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1833+194T>C single nucleotide variant not provided [RCV000680889] Chr12:8847892 [GRCh38]
Chr12:9000488 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1248+80T>C single nucleotide variant not provided [RCV000680848] Chr12:8841616 [GRCh38]
Chr12:8994212 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2590+116T>C single nucleotide variant not provided [RCV000680967] Chr12:8852452 [GRCh38]
Chr12:9005048 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2848+40G>T single nucleotide variant not provided [RCV000680978] Chr12:8855632 [GRCh38]
Chr12:9008228 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+202A>C single nucleotide variant not provided [RCV000681009] Chr12:8829981 [GRCh38]
Chr12:8982577 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4152+60A>T single nucleotide variant not provided [RCV000680945] Chr12:8868687 [GRCh38]
Chr12:9021283 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2032G>T (p.Val678Leu) single nucleotide variant not provided [RCV000680968]|not specified [RCV001193987] Chr12:8849672 [GRCh38]
Chr12:9002268 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.246+139A>G single nucleotide variant not provided [RCV000681010] Chr12:8823504 [GRCh38]
Chr12:8976100 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1080+180C>A single nucleotide variant not provided [RCV000680863] Chr12:8839402 [GRCh38]
Chr12:8991998 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1683+74A>G single nucleotide variant not provided [RCV000680888] Chr12:8846296 [GRCh38]
Chr12:8998892 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3265-148G>A single nucleotide variant not provided [RCV000680899] Chr12:8860733 [GRCh38]
Chr12:9013329 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.644-206G>T single nucleotide variant not provided [RCV000680905] Chr12:8836049 [GRCh38]
Chr12:8988645 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2463+59G>C single nucleotide variant not provided [RCV000680885] Chr12:8852071 [GRCh38]
Chr12:9004667 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3775T>C (p.Ser1259Pro) single nucleotide variant not provided [RCV000681086] Chr12:8867899 [GRCh38]
Chr12:9020495 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1080+318_1080+320del microsatellite not provided [RCV000681238] Chr12:8839535..8839537 [GRCh38]
Chr12:8992131..8992133 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+253G>C single nucleotide variant not provided [RCV000681241] Chr12:8864261 [GRCh38]
Chr12:9016857 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.630T>G (p.Ser210Arg) single nucleotide variant not provided [RCV000681169] Chr12:8835653 [GRCh38]
Chr12:8988249 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.643+280C>G single nucleotide variant not provided [RCV000681235] Chr12:8835946 [GRCh38]
Chr12:8988542 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) single nucleotide variant not provided [RCV000681072]|not specified [RCV002232816] Chr12:8837525 [GRCh38]
Chr12:8990121 [GRCh37]
Chr12:12p13.31		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.409+302T>C single nucleotide variant not provided [RCV000681233] Chr12:8824184 [GRCh38]
Chr12:8976780 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1080+304_1080+305insT insertion not provided [RCV000681237] Chr12:8839526..8839527 [GRCh38]
Chr12:8992122..8992123 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3264+271A>G single nucleotide variant not provided [RCV000681239] Chr12:8858373 [GRCh38]
Chr12:9010969 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+252C>A single nucleotide variant not provided [RCV000681240] Chr12:8864260 [GRCh38]
Chr12:9016856 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3934-30C>T single nucleotide variant not provided [RCV000680944] Chr12:8868200 [GRCh38]
Chr12:9020796 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2119+56T>C single nucleotide variant not provided [RCV000681018] Chr12:8849815 [GRCh38]
Chr12:9002411 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.*1+12G>A single nucleotide variant Otitis media, susceptibility to [RCV002477515]|not provided [RCV000680969]|not specified [RCV001193276] Chr12:8875024 [GRCh38]
Chr12:9027620 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.650C>T (p.Pro217Leu) single nucleotide variant not provided [RCV000681031] Chr12:8836261 [GRCh38]
Chr12:8988857 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.409+286A>G single nucleotide variant not provided [RCV000681232] Chr12:8824168 [GRCh38]
Chr12:8976764 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1833+319_1833+320insTG insertion not provided [RCV000681341] Chr12:8848016..8848017 [GRCh38]
Chr12:9000612..9000613 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe) single nucleotide variant Inborn genetic diseases [RCV002325346]|not provided [RCV000681349] Chr12:8858085 [GRCh38]
Chr12:9010681 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.4094C>T (p.Ala1365Val) single nucleotide variant not provided [RCV000681120] Chr12:8868569 [GRCh38]
Chr12:9021165 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp) single nucleotide variant not provided [RCV000681058]|not specified [RCV003330898] Chr12:8849757 [GRCh38]
Chr12:9002353 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.4(A2ML1):c.-433T>C single nucleotide variant not provided [RCV000681228] Chr12:8822219 [GRCh38]
Chr12:8974815 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.483+272T>C single nucleotide variant not provided [RCV000681234] Chr12:8834954 [GRCh38]
Chr12:8987550 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.971-282C>T single nucleotide variant not provided [RCV000681236] Chr12:8838831 [GRCh38]
Chr12:8991427 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3116C>T (p.Ala1039Val) single nucleotide variant not provided [RCV000681322] Chr12:8857954 [GRCh38]
Chr12:9010550 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1833+316A>G single nucleotide variant not provided [RCV000681340] Chr12:8848014 [GRCh38]
Chr12:9000610 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2029-276C>G single nucleotide variant not provided [RCV000681342] Chr12:8849393 [GRCh38]
Chr12:9001989 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1249-305A>C single nucleotide variant not provided [RCV000681373] Chr12:8842829 [GRCh38]
Chr12:8995425 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2765-299G>T single nucleotide variant not provided [RCV000681397] Chr12:8855210 [GRCh38]
Chr12:9007806 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+2T>C single nucleotide variant not provided [RCV000681407]|not specified [RCV003155283] Chr12:8829781 [GRCh38]
Chr12:8982377 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3612_3613delinsTATGCA (p.Gln1204fs) indel not provided [RCV000681415] Chr12:8863903..8863904 [GRCh38]
Chr12:9016499..9016500 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) single nucleotide variant Inborn genetic diseases [RCV002352104]|not provided [RCV000681420]|not specified [RCV002265857] Chr12:8868314 [GRCh38]
Chr12:9020910 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.856-119A>G single nucleotide variant not provided [RCV000680861] Chr12:8838217 [GRCh38]
Chr12:8990813 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.644-74A>G single nucleotide variant not provided [RCV000680867] Chr12:8836181 [GRCh38]
Chr12:8988777 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1248+7A>G single nucleotide variant not provided [RCV003738090]|not specified [RCV001553601] Chr12:8841543 [GRCh38]
Chr12:8994139 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) single nucleotide variant not provided [RCV001730441]|not specified [RCV003230693] Chr12:8843323 [GRCh38]
Chr12:8995919 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
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
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 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.970+245G>A single nucleotide variant not provided [RCV001537428] Chr12:8838695 [GRCh38]
Chr12:8991291 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1684-285del deletion not provided [RCV001649072] Chr12:8847246 [GRCh38]
Chr12:8999842 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2119+42C>T single nucleotide variant not provided [RCV001611308] Chr12:8849801 [GRCh38]
Chr12:9002397 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4180G>T (p.Val1394Phe) single nucleotide variant Inborn genetic diseases [RCV002327223]|not provided [RCV000994849] Chr12:8869162 [GRCh38]
Chr12:9021758 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1684-285dup duplication not provided [RCV001611282] Chr12:8847245..8847246 [GRCh38]
Chr12:8999841..8999842 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+264A>G single nucleotide variant not provided [RCV001680754] Chr12:8864272 [GRCh38]
Chr12:9016868 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3502+813G>A single nucleotide variant not provided [RCV001648051] Chr12:8862110 [GRCh38]
Chr12:9014706 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1249-36A>G single nucleotide variant not provided [RCV001612172] Chr12:8843098 [GRCh38]
Chr12:8995694 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3107+89C>T single nucleotide variant not provided [RCV001678746] Chr12:8857677 [GRCh38]
Chr12:9010273 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu) single nucleotide variant Inborn genetic diseases [RCV002434369]|not provided [RCV000983939]|not specified [RCV001255531] Chr12:8823750 [GRCh38]
Chr12:8976346 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1538-6T>C single nucleotide variant A2ML1-related condition [RCV003895277]|not provided [RCV000867518] Chr12:8846071 [GRCh38]
Chr12:8998667 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2441A>G (p.Asn814Ser) single nucleotide variant A2ML1-related condition [RCV003965708]|not provided [RCV000866411]|not specified [RCV001844242] Chr12:8851990 [GRCh38]
Chr12:9004586 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3765C>G (p.Ala1255=) single nucleotide variant not provided [RCV000921639] Chr12:8867889 [GRCh38]
Chr12:9020485 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2259C>T (p.His753=) single nucleotide variant Inborn genetic diseases [RCV002442843]|not provided [RCV000869350]|not specified [RCV002235484] Chr12:8851808 [GRCh38]
Chr12:9004404 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.729-5G>A single nucleotide variant not provided [RCV000876136] Chr12:8837435 [GRCh38]
Chr12:8990031 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile) single nucleotide variant Otitis media, susceptibility to [RCV002501227]|not provided [RCV000863902] Chr12:8861190 [GRCh38]
Chr12:9013786 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3502+10T>C single nucleotide variant not provided [RCV000867014] Chr12:8861307 [GRCh38]
Chr12:9013903 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2706C>T (p.Leu902=) single nucleotide variant Inborn genetic diseases [RCV002427160]|not provided [RCV000868741] Chr12:8854243 [GRCh38]
Chr12:9006839 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) single nucleotide variant A2ML1-related condition [RCV003918358]|Inborn genetic diseases [RCV003169106]|Otitis media, susceptibility to [RCV002487899]|not provided [RCV000863962]|not specified [RCV001264441] Chr12:8848823 [GRCh38]
Chr12:9001419 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.1041C>T (p.Thr347=) single nucleotide variant Inborn genetic diseases [RCV003307604]|not provided [RCV000865795] Chr12:8839183 [GRCh38]
Chr12:8991779 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) single nucleotide variant Inborn genetic diseases [RCV002453957]|not provided [RCV000865845]|not specified [RCV001192602] Chr12:8823830 [GRCh38]
Chr12:8976426 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) single nucleotide variant Inborn genetic diseases [RCV002453958]|not provided [RCV000865864]|not specified [RCV001193875] Chr12:8863807 [GRCh38]
Chr12:9016403 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.4062-8G>C single nucleotide variant not provided [RCV000970623] Chr12:8868529 [GRCh38]
Chr12:9021125 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2463+10G>A single nucleotide variant not provided [RCV000929035] Chr12:8852022 [GRCh38]
Chr12:9004618 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2658G>A (p.Gly886=) single nucleotide variant Inborn genetic diseases [RCV002454172]|not provided [RCV000945724]|not specified [RCV001328322] Chr12:8854195 [GRCh38]
Chr12:9006791 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+9GGA[5] microsatellite not provided [RCV000869017] Chr12:8829787..8829788 [GRCh38]
Chr12:8982383..8982384 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.855+9A>G single nucleotide variant not provided [RCV000868212]|not specified [RCV001532980] Chr12:8837575 [GRCh38]
Chr12:8990171 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2568G>A (p.Trp856Ter) single nucleotide variant not provided [RCV001044044] Chr12:8852314 [GRCh38]
Chr12:9004910 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_144670.6(A2ML1):c.2126G>A (p.Gly709Asp) single nucleotide variant Inborn genetic diseases [RCV003160232]|not provided [RCV001037903] Chr12:8850166 [GRCh38]
Chr12:9002762 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3488A>T (p.Gln1163Leu) single nucleotide variant not provided [RCV001039907] Chr12:8861283 [GRCh38]
Chr12:9013879 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.658A>G (p.Lys220Glu) single nucleotide variant not provided [RCV001046287] Chr12:8836269 [GRCh38]
Chr12:8988865 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met) single nucleotide variant not provided [RCV003106175]|not specified [RCV001280578] Chr12:8854819 [GRCh38]
Chr12:9007415 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3266G>A (p.Gly1089Asp) single nucleotide variant not provided [RCV001061452] Chr12:8860882 [GRCh38]
Chr12:9013478 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.755G>A (p.Gly252Glu) single nucleotide variant Inborn genetic diseases [RCV002391125]|not provided [RCV001042199] Chr12:8837466 [GRCh38]
Chr12:8990062 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.(?_8829717)_(8829789_?)del deletion not provided [RCV001032910] Chr12:8982313..8982385 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) deletion not provided [RCV000797125]|not specified [RCV003226393] Chr12:8850182 [GRCh38]
Chr12:9002778 [GRCh37]
Chr12:12p13.31		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.4061+1G>C single nucleotide variant Otitis media [RCV001261809]|Otitis media, susceptibility to [RCV000768660]|not provided [RCV001309141]|not specified [RCV001269108] Chr12:8868358 [GRCh38]
Chr12:9020954 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic|uncertain significance
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) single nucleotide variant Otitis media [RCV001261808]|Otitis media, susceptibility to [RCV000768661] Chr12:8822661 [GRCh38]
Chr12:8975257 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_144670.6(A2ML1):c.971-8C>T single nucleotide variant Otitis media [RCV001261811]|Otitis media, susceptibility to [RCV000768662]|not provided [RCV001463544] Chr12:8839105 [GRCh38]
Chr12:8991701 [GRCh37]
Chr12:12p13.31		 pathogenic|likely benign|uncertain significance
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His) single nucleotide variant Otitis media [RCV001261812]|Otitis media, susceptibility to [RCV000768663] Chr12:8843193 [GRCh38]
Chr12:8995789 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro) single nucleotide variant Otitis media [RCV001261814]|Otitis media, susceptibility to [RCV000768664] Chr12:8848898 [GRCh38]
Chr12:9001494 [GRCh37]
Chr12:12p13.31		 pathogenic|uncertain significance
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) single nucleotide variant Otitis media [RCV001261818]|Otitis media, susceptibility to [RCV000768666]|not provided [RCV001855852] Chr12:8851878 [GRCh38]
Chr12:9004474 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) single nucleotide variant Otitis media [RCV001261810]|Otitis media, susceptibility to [RCV000768674]|not provided [RCV000793023] Chr12:8823283 [GRCh38]
Chr12:8975879 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His) single nucleotide variant Otitis media [RCV001261813]|Otitis media, susceptibility to [RCV000768675] Chr12:8846222 [GRCh38]
Chr12:8998818 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His) single nucleotide variant Otitis media [RCV001261815]|Otitis media, susceptibility to [RCV000768676]|not provided [RCV001220299] Chr12:8850229 [GRCh38]
Chr12:9002825 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) single nucleotide variant Otitis media [RCV001261817]|Otitis media, susceptibility to [RCV000768677] Chr12:8850268 [GRCh38]
Chr12:9002864 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) single nucleotide variant Otitis media [RCV001261819]|Otitis media, susceptibility to [RCV000768678] Chr12:8852291 [GRCh38]
Chr12:9004887 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro) single nucleotide variant Otitis media [RCV001261821]|Otitis media, susceptibility to [RCV000768679] Chr12:8857286 [GRCh38]
Chr12:9009882 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) single nucleotide variant Otitis media [RCV001261822]|Otitis media, susceptibility to [RCV000768680] Chr12:8861286 [GRCh38]
Chr12:9013882 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3503-4A>T single nucleotide variant not provided [RCV000978070] Chr12:8863790 [GRCh38]
Chr12:9016386 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4061+1G>A single nucleotide variant Otitis media, susceptibility to [RCV000988785]|not provided [RCV000862746]|not specified [RCV001174589] Chr12:8868358 [GRCh38]
Chr12:9020954 [GRCh37]
Chr12:12p13.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) single nucleotide variant not provided [RCV000863900]|not specified [RCV001201231] Chr12:8874464 [GRCh38]
Chr12:9027060 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3564G>A (p.Glu1188=) single nucleotide variant Inborn genetic diseases [RCV002453975]|not provided [RCV000867135] Chr12:8863855 [GRCh38]
Chr12:9016451 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) single nucleotide variant A2ML1-related condition [RCV003975445]|Inborn genetic diseases [RCV003344102]|not provided [RCV000872996]|not specified [RCV001251261] Chr12:8868258 [GRCh38]
Chr12:9020854 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) single nucleotide variant not provided [RCV000862848]|not specified [RCV001192601] Chr12:8848912 [GRCh38]
Chr12:9001508 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met) single nucleotide variant Inborn genetic diseases [RCV002434360]|not provided [RCV000981793]|not specified [RCV001375602] Chr12:8855584 [GRCh38]
Chr12:9008180 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.246+8_246+9del microsatellite not provided [RCV000861485] Chr12:8823371..8823372 [GRCh38]
Chr12:8975967..8975968 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1677C>T (p.Asp559=) single nucleotide variant Inborn genetic diseases [RCV003169420]|not provided [RCV000939872] Chr12:8846216 [GRCh38]
Chr12:8998812 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1053C>T (p.Tyr351=) single nucleotide variant not provided [RCV000979143] Chr12:8839195 [GRCh38]
Chr12:8991791 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2587T>C (p.Leu863=) single nucleotide variant Inborn genetic diseases [RCV002427093]|not provided [RCV000861543] Chr12:8852333 [GRCh38]
Chr12:9004929 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) single nucleotide variant not provided [RCV000861568]|not specified [RCV001193874] Chr12:8857239 [GRCh38]
Chr12:9009835 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1002C>T (p.Tyr334=) single nucleotide variant Inborn genetic diseases [RCV002390872]|not provided [RCV000893031] Chr12:8839144 [GRCh38]
Chr12:8991740 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4038C>T (p.Ser1346=) single nucleotide variant Inborn genetic diseases [RCV002320139]|not provided [RCV000940088] Chr12:8868334 [GRCh38]
Chr12:9020930 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1684-10C>T single nucleotide variant not provided [RCV000867304] Chr12:8847539 [GRCh38]
Chr12:9000135 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.423T>C (p.Ile141=) single nucleotide variant Inborn genetic diseases [RCV002332871]|not provided [RCV000908579] Chr12:8829740 [GRCh38]
Chr12:8982336 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) single nucleotide variant A2ML1-related condition [RCV003938340]|not provided [RCV000874250]|not specified [RCV001193877] Chr12:8857962 [GRCh38]
Chr12:9010558 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) single nucleotide variant not provided [RCV000861741]|not specified [RCV001358759] Chr12:8823224 [GRCh38]
Chr12:8975820 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.3869C>A (p.Thr1290Asn) single nucleotide variant A2ML1-related condition [RCV003908209]|not provided [RCV000865007] Chr12:8867993 [GRCh38]
Chr12:9020589 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1218C>T (p.Ser406=) single nucleotide variant Inborn genetic diseases [RCV002363214]|not provided [RCV000863162] Chr12:8841506 [GRCh38]
Chr12:8994102 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.861C>T (p.Asp287=) single nucleotide variant A2ML1-related condition [RCV003955625]|Inborn genetic diseases [RCV002442811]|not provided [RCV000865051] Chr12:8838341 [GRCh38]
Chr12:8990937 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) single nucleotide variant Inborn genetic diseases [RCV002399928]|not provided [RCV000869811]|not specified [RCV001328461] Chr12:8846141 [GRCh38]
Chr12:8998737 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.681G>A (p.Lys227=) single nucleotide variant Inborn genetic diseases [RCV002363218]|not provided [RCV000863924] Chr12:8836292 [GRCh38]
Chr12:8988888 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=) single nucleotide variant Inborn genetic diseases [RCV002427091]|not provided [RCV000860776]|not specified [RCV002235144] Chr12:8851859 [GRCh38]
Chr12:9004455 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.978G>A (p.Glu326=) single nucleotide variant Inborn genetic diseases [RCV002372416]|not provided [RCV000864796] Chr12:8839120 [GRCh38]
Chr12:8991716 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1284G>A (p.Pro428=) single nucleotide variant Inborn genetic diseases [RCV003169148]|not provided [RCV000868215]|not specified [RCV001251396] Chr12:8843169 [GRCh38]
Chr12:8995765 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2142T>C (p.Ala714=) single nucleotide variant Inborn genetic diseases [RCV002427384]|not provided [RCV000953904] Chr12:8850182 [GRCh38]
Chr12:9002778 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.651G>A (p.Pro217=) single nucleotide variant not provided [RCV000865109] Chr12:8836262 [GRCh38]
Chr12:8988858 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3546C>T (p.Asn1182=) single nucleotide variant Inborn genetic diseases [RCV002454193]|not provided [RCV000964596] Chr12:8863837 [GRCh38]
Chr12:9016433 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4341T>A (p.Ile1447=) single nucleotide variant not provided [RCV000885645] Chr12:8874987 [GRCh38]
Chr12:9027583 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.61C>G (p.Pro21Ala) single nucleotide variant not provided [RCV000938613] Chr12:8822712 [GRCh38]
Chr12:8975308 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys) single nucleotide variant not provided [RCV000863829]|not specified [RCV001293541] Chr12:8835642 [GRCh38]
Chr12:8988238 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2241G>A (p.Ser747=) single nucleotide variant Inborn genetic diseases [RCV002415992]|not provided [RCV000863855] Chr12:8851790 [GRCh38]
Chr12:9004386 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) single nucleotide variant not provided [RCV000818910]|not specified [RCV001193881] Chr12:8843318 [GRCh38]
Chr12:8995914 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.419G>A (p.Arg140His) single nucleotide variant not provided [RCV000819033] Chr12:8829736 [GRCh38]
Chr12:8982332 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3937G>A (p.Val1313Met) single nucleotide variant Inborn genetic diseases [RCV002370096]|not provided [RCV000797819] Chr12:8868233 [GRCh38]
Chr12:9020829 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2670A>T (p.Gln890His) single nucleotide variant Inborn genetic diseases [RCV002427069]|not provided [RCV000823154] Chr12:8854207 [GRCh38]
Chr12:9006803 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2997G>A (p.Arg999=) single nucleotide variant not provided [RCV000893288] Chr12:8857312 [GRCh38]
Chr12:9009908 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3718-10T>A single nucleotide variant not provided [RCV000820006] Chr12:8867832 [GRCh38]
Chr12:9020428 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.13C>G (p.Leu5Val) single nucleotide variant not provided [RCV000801238] Chr12:8822664 [GRCh38]
Chr12:8975260 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) single nucleotide variant Otitis media, susceptibility to [RCV002501063]|not provided [RCV000798491]|not specified [RCV003226394] Chr12:8823848 [GRCh38]
Chr12:8976444 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4077T>C (p.Arg1359=) single nucleotide variant not provided [RCV000915326] Chr12:8868552 [GRCh38]
Chr12:9021148 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.791C>T (p.Thr264Ile) single nucleotide variant not provided [RCV000811170] Chr12:8837502 [GRCh38]
Chr12:8990098 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.920C>T (p.Ala307Val) single nucleotide variant Inborn genetic diseases [RCV003166373]|not provided [RCV000818041] Chr12:8838400 [GRCh38]
Chr12:8990996 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2848+4A>C single nucleotide variant not provided [RCV000824075] Chr12:8855596 [GRCh38]
Chr12:9008192 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser) single nucleotide variant Inborn genetic diseases [RCV002345837]|not provided [RCV000810699]|not specified [RCV003230595] Chr12:8835588 [GRCh38]
Chr12:8988184 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.776_777del (p.Cys259fs) microsatellite not provided [RCV000805237] Chr12:8837482..8837483 [GRCh38]
Chr12:8990078..8990079 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2670A>G (p.Gln890=) single nucleotide variant not provided [RCV000795029] Chr12:8854207 [GRCh38]
Chr12:9006803 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr) single nucleotide variant Inborn genetic diseases [RCV002372296]|not provided [RCV000815199]|not specified [RCV001194019] Chr12:8838391 [GRCh38]
Chr12:8990987 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) single nucleotide variant Inborn genetic diseases [RCV002458447]|not provided [RCV000798908]|not specified [RCV001175521] Chr12:8851944 [GRCh38]
Chr12:9004540 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr) single nucleotide variant A2ML1-related condition [RCV003424406]|Inborn genetic diseases [RCV002427170]|not provided [RCV000870088] Chr12:8823340 [GRCh38]
Chr12:8975936 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.128T>C (p.Leu43Pro) single nucleotide variant not provided [RCV000800643] Chr12:8823247 [GRCh38]
Chr12:8975843 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3819G>C (p.Gln1273His) single nucleotide variant Inborn genetic diseases [RCV002352395]|not provided [RCV000809251] Chr12:8867943 [GRCh38]
Chr12:9020539 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) single nucleotide variant Inborn genetic diseases [RCV003169043]|Otitis media, susceptibility to [RCV002501142]|not provided [RCV000822900]|not specified [RCV001805902] Chr12:8867948 [GRCh38]
Chr12:9020544 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp) single nucleotide variant Inborn genetic diseases [RCV002390704]|not provided [RCV000823119] Chr12:8843279 [GRCh38]
Chr12:8995875 [GRCh37]
Chr12:12p13.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.346C>G (p.Gln116Glu) single nucleotide variant not provided [RCV000823445] Chr12:8823819 [GRCh38]
Chr12:8976415 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2913C>T (p.Gly971=) single nucleotide variant A2ML1-related condition [RCV003392602]|not provided [RCV000797746] Chr12:8857228 [GRCh38]
Chr12:9009824 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462G>A (p.Lys154=) single nucleotide variant not provided [RCV000824311] Chr12:8829779 [GRCh38]
Chr12:8982375 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) single nucleotide variant Inborn genetic diseases [RCV002440653]|not provided [RCV000798234]|not specified [RCV001174646] Chr12:8855517 [GRCh38]
Chr12:9008113 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1142A>G (p.Tyr381Cys) single nucleotide variant Inborn genetic diseases [RCV002458419]|not provided [RCV000794949] Chr12:8841430 [GRCh38]
Chr12:8994026 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2848+1G>A single nucleotide variant not provided [RCV000811221] Chr12:8855593 [GRCh38]
Chr12:9008189 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.31(chr12:8966269-8986611)x1 copy number loss not provided [RCV000848273] Chr12:8966269..8986611 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.(?_8857487)_(8861317_?)del deletion not provided [RCV000792151] Chr12:8857487..8861317 [GRCh38]
Chr12:9010083..9013913 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys) single nucleotide variant Inborn genetic diseases [RCV002370176]|not provided [RCV000810700]|not specified [RCV003230596] Chr12:8823187 [GRCh38]
Chr12:8975783 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.943G>A (p.Val315Met) single nucleotide variant not provided [RCV000795697] Chr12:8838423 [GRCh38]
Chr12:8991019 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4113G>A (p.Met1371Ile) single nucleotide variant not provided [RCV000791547] Chr12:8868588 [GRCh38]
Chr12:9021184 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1718C>T (p.Pro573Leu) single nucleotide variant not provided [RCV000811019] Chr12:8847583 [GRCh38]
Chr12:9000179 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp) single nucleotide variant not provided [RCV000821846]|not specified [RCV002265899] Chr12:8851978 [GRCh38]
Chr12:9004574 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.712G>A (p.Val238Ile) single nucleotide variant not provided [RCV000863304] Chr12:8836323 [GRCh38]
Chr12:8988919 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.115G>A (p.Val39Ile) single nucleotide variant Inborn genetic diseases [RCV002352306]|not provided [RCV000791605] Chr12:8823234 [GRCh38]
Chr12:8975830 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.(?_8857497)_(8861307_?)del deletion not provided [RCV000800668] Chr12:8857497..8861307 [GRCh38]
Chr12:9010093..9013903 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3297G>A (p.Ala1099=) single nucleotide variant Inborn genetic diseases [RCV002454012]|not provided [RCV000871864] Chr12:8860913 [GRCh38]
Chr12:9013509 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly) single nucleotide variant A2ML1-related condition [RCV003955505]|Inborn genetic diseases [RCV002424781]|not provided [RCV000786270] Chr12:8850187 [GRCh38]
Chr12:9002783 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3657T>C (p.Thr1219=) single nucleotide variant Inborn genetic diseases [RCV002453945]|not provided [RCV000863889] Chr12:8863948 [GRCh38]
Chr12:9016544 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) single nucleotide variant not provided [RCV000862132] Chr12:8868263 [GRCh38]
Chr12:9020859 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity
NM_144670.6(A2ML1):c.3797dup (p.Ser1268fs) duplication not provided [RCV000811707] Chr12:8867920..8867921 [GRCh38]
Chr12:9020516..9020517 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1437C>T (p.Ala479=) single nucleotide variant Inborn genetic diseases [RCV002390874]|not provided [RCV000894202] Chr12:8843322 [GRCh38]
Chr12:8995918 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.31(chr12:8966269-9289695)x3 copy number gain not provided [RCV000849456] Chr12:8966269..9289695 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2328C>T (p.Phe776=) single nucleotide variant A2ML1-related condition [RCV003908264]|Inborn genetic diseases [RCV002442851]|not provided [RCV000870562]|not specified [RCV001175519] Chr12:8851877 [GRCh38]
Chr12:9004473 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.62+1G>C single nucleotide variant not provided [RCV001053939] Chr12:8822714 [GRCh38]
Chr12:8975310 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3837G>T (p.Gln1279His) single nucleotide variant not provided [RCV001245983] Chr12:8867961 [GRCh38]
Chr12:9020557 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.460A>G (p.Lys154Glu) single nucleotide variant not provided [RCV001211680] Chr12:8829777 [GRCh38]
Chr12:8982373 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val) single nucleotide variant not provided [RCV003546681]|not specified [RCV001201328] Chr12:8847634 [GRCh38]
Chr12:9000230 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) single nucleotide variant not provided [RCV001863147]|not specified [RCV001201333] Chr12:8852232 [GRCh38]
Chr12:9004828 [GRCh37]
Chr12:12p13.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu) single nucleotide variant not provided [RCV003558743]|not specified [RCV001174682] Chr12:8848877 [GRCh38]
Chr12:9001473 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2114T>C (p.Met705Thr) single nucleotide variant A2ML1-related condition [RCV003898191]|not provided [RCV002559225]|not specified [RCV001193833] Chr12:8849754 [GRCh38]
Chr12:9002350 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1219G>A (p.Gly407Ser) single nucleotide variant not provided [RCV001212140] Chr12:8841507 [GRCh38]
Chr12:8994103 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.971-3C>T single nucleotide variant not provided [RCV001219940] Chr12:8839110 [GRCh38]
Chr12:8991706 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.424G>A (p.Val142Ile) single nucleotide variant not specified [RCV001201326] Chr12:8829741 [GRCh38]
Chr12:8982337 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3339T>G (p.Asp1113Glu) single nucleotide variant not provided [RCV001239142] Chr12:8860955 [GRCh38]
Chr12:9013551 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4334C>A (p.Ala1445Glu) single nucleotide variant Otitis media, susceptibility to [RCV002491782]|not provided [RCV001239199] Chr12:8874980 [GRCh38]
Chr12:9027576 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3509C>T (p.Ser1170Phe) single nucleotide variant not provided [RCV001226672] Chr12:8863800 [GRCh38]
Chr12:9016396 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1988C>T (p.Pro663Leu) single nucleotide variant not provided [RCV001237177] Chr12:8848874 [GRCh38]
Chr12:9001470 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.964G>A (p.Gly322Arg) single nucleotide variant not provided [RCV001237454] Chr12:8838444 [GRCh38]
Chr12:8991040 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1224G>C (p.Trp408Cys) single nucleotide variant Inborn genetic diseases [RCV002365942]|not provided [RCV001209378] Chr12:8841512 [GRCh38]
Chr12:8994108 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3136G>C (p.Gly1046Arg) single nucleotide variant Inborn genetic diseases [RCV002322022]|not provided [RCV001209379] Chr12:8857974 [GRCh38]
Chr12:9010570 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile) single nucleotide variant not provided [RCV001237872]|not specified [RCV001293542] Chr12:8854244 [GRCh38]
Chr12:9006840 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1091G>A (p.Arg364Lys) single nucleotide variant Inborn genetic diseases [RCV002447199]|not provided [RCV001241312] Chr12:8841379 [GRCh38]
Chr12:8993975 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2885G>A (p.Gly962Asp) single nucleotide variant not provided [RCV001225012] Chr12:8857200 [GRCh38]
Chr12:9009796 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2082_2083inv (p.Ser695Gly) inversion not provided [RCV001243498] Chr12:8849722..8849723 [GRCh38]
Chr12:9002318..9002319 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1589del (p.Pro530fs) deletion not provided [RCV001240690] Chr12:8846125 [GRCh38]
Chr12:8998721 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1081A>G (p.Ile361Val) single nucleotide variant Inborn genetic diseases [RCV002429976]|not provided [RCV001229263] Chr12:8841369 [GRCh38]
Chr12:8993965 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1888_1891dup (p.Asp631delinsValTer) duplication not specified [RCV001201331] Chr12:8848772..8848773 [GRCh38]
Chr12:9001368..9001369 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3685C>T (p.His1229Tyr) single nucleotide variant not specified [RCV001201336] Chr12:8863976 [GRCh38]
Chr12:9016572 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.906C>T (p.Asp302=) single nucleotide variant not specified [RCV001175046] Chr12:8838386 [GRCh38]
Chr12:8990982 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2463G>T (p.Arg821Ser) single nucleotide variant not provided [RCV001062661] Chr12:8852012 [GRCh38]
Chr12:9004608 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_144670.6(A2ML1):c.2234+16A>G single nucleotide variant not provided [RCV001597320]|not specified [RCV001582408] Chr12:8850290 [GRCh38]
Chr12:9002886 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4280A>G (p.Asn1427Ser) single nucleotide variant A2ML1-related condition [RCV003420639]|Inborn genetic diseases [RCV003292157] Chr12:8874483 [GRCh38]
Chr12:9027079 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4221+247_4221+248del microsatellite not provided [RCV001720840] Chr12:8869447..8869448 [GRCh38]
Chr12:9022043..9022044 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.410-51del deletion not provided [RCV001720842] Chr12:8829655 [GRCh38]
Chr12:8982251 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.855+239G>A single nucleotide variant not provided [RCV001720845] Chr12:8837805 [GRCh38]
Chr12:8990401 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.462+130C>T single nucleotide variant not provided [RCV001713264] Chr12:8829909 [GRCh38]
Chr12:8982505 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2764+81dup duplication not provided [RCV001698866] Chr12:8854896..8854897 [GRCh38]
Chr12:9007492..9007493 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2849-153G>T single nucleotide variant not provided [RCV001638969] Chr12:8857011 [GRCh38]
Chr12:9009607 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3502+714C>T single nucleotide variant not provided [RCV001720376] Chr12:8862011 [GRCh38]
Chr12:9014607 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3502+706A>G single nucleotide variant not provided [RCV001720385] Chr12:8862003 [GRCh38]
Chr12:9014599 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2849-198G>A single nucleotide variant not provided [RCV001639292] Chr12:8856966 [GRCh38]
Chr12:9009562 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1280A>G (p.Asn427Ser) single nucleotide variant not provided [RCV001723480] Chr12:8843165 [GRCh38]
Chr12:8995761 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.21A>G (p.Leu7=) single nucleotide variant Inborn genetic diseases [RCV002425030]|not provided [RCV001723484]|not specified [RCV003323919] Chr12:8822672 [GRCh38]
Chr12:8975268 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.4325-207A>G single nucleotide variant not provided [RCV001669812] Chr12:8874764 [GRCh38]
Chr12:9027360 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+258A>G single nucleotide variant not provided [RCV001656040] Chr12:8864266 [GRCh38]
Chr12:9016862 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2765-21C>A single nucleotide variant not provided [RCV001643824] Chr12:8855488 [GRCh38]
Chr12:9008084 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4324+205G>A single nucleotide variant not provided [RCV001644327] Chr12:8874732 [GRCh38]
Chr12:9027328 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.644-221del deletion not provided [RCV001621177] Chr12:8836013 [GRCh38]
Chr12:8988609 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4221+285C>T single nucleotide variant not provided [RCV001614579] Chr12:8869488 [GRCh38]
Chr12:9022084 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1834-1G>T single nucleotide variant A2ML1-related condition [RCV003394116]|not specified [RCV001532894] Chr12:8848719 [GRCh38]
Chr12:9001315 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3756C>G (p.Ala1252=) single nucleotide variant not provided [RCV000978158] Chr12:8867880 [GRCh38]
Chr12:9020476 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1746G>A (p.Gln582=) single nucleotide variant Inborn genetic diseases [RCV002399894]|not provided [RCV000866272]|not specified [RCV001358760] Chr12:8847611 [GRCh38]
Chr12:9000207 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2253G>A (p.Ala751=) single nucleotide variant Inborn genetic diseases [RCV002442798]|not provided [RCV000862950] Chr12:8851802 [GRCh38]
Chr12:9004398 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4061+80T>G single nucleotide variant not provided [RCV001766208] Chr12:8868437 [GRCh38]
Chr12:9021033 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.*1+119G>T single nucleotide variant not provided [RCV001766213] Chr12:8875131 [GRCh38]
Chr12:9027727 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503-9T>A single nucleotide variant A2ML1-related condition [RCV003938241]|not provided [RCV000863293] Chr12:8863785 [GRCh38]
Chr12:9016381 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.693G>A (p.Thr231=) single nucleotide variant not provided [RCV000862764] Chr12:8836304 [GRCh38]
Chr12:8988900 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2133T>C (p.His711=) single nucleotide variant not provided [RCV000915367] Chr12:8850173 [GRCh38]
Chr12:9002769 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3108-9C>T single nucleotide variant not provided [RCV000977454] Chr12:8857937 [GRCh38]
Chr12:9010533 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3418T>C (p.Leu1140=) single nucleotide variant Inborn genetic diseases [RCV002454149]|not provided [RCV000939677] Chr12:8861213 [GRCh38]
Chr12:9013809 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1780G>A (p.Val594Met) single nucleotide variant not provided [RCV000981795]|not specified [RCV003317404] Chr12:8847645 [GRCh38]
Chr12:9000241 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4158C>G (p.Leu1386=) single nucleotide variant not provided [RCV000861323] Chr12:8869140 [GRCh38]
Chr12:9021736 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2764+12C>G single nucleotide variant not provided [RCV002069219]|not specified [RCV001193273] Chr12:8854843 [GRCh38]
Chr12:9007439 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2234+10G>A single nucleotide variant not provided [RCV002559220]|not specified [RCV001193278] Chr12:8850284 [GRCh38]
Chr12:9002880 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met) single nucleotide variant not provided [RCV001876256]|not specified [RCV001193878] Chr12:8857299 [GRCh38]
Chr12:9009895 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.256C>T (p.Pro86Ser) single nucleotide variant A2ML1-related condition [RCV003405441]|not provided [RCV001242073] Chr12:8823729 [GRCh38]
Chr12:8976325 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1784A>T (p.Asp595Val) single nucleotide variant not provided [RCV001207504] Chr12:8847649 [GRCh38]
Chr12:9000245 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp) single nucleotide variant not specified [RCV001175522] Chr12:8822695 [GRCh38]
Chr12:8975291 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4324+2T>C single nucleotide variant not provided [RCV001222472] Chr12:8874529 [GRCh38]
Chr12:9027125 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu) single nucleotide variant not provided [RCV003546680]|not specified [RCV001199918] Chr12:8848896 [GRCh38]
Chr12:9001492 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.118T>G (p.Cys40Gly) single nucleotide variant not provided [RCV001236795] Chr12:8823237 [GRCh38]
Chr12:8975833 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3431del (p.Phe1144fs) deletion not specified [RCV001201335] Chr12:8861223 [GRCh38]
Chr12:9013819 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3615_3617delinsAA (p.Lys1207fs) indel not provided [RCV001245431] Chr12:8863906..8863908 [GRCh38]
Chr12:9016502..9016504 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.139T>C (p.Tyr47His) single nucleotide variant Inborn genetic diseases [RCV003284101]|not provided [RCV001237535] Chr12:8823258 [GRCh38]
Chr12:8975854 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2611A>C (p.Ser871Arg) single nucleotide variant not provided [RCV001220722] Chr12:8854148 [GRCh38]
Chr12:9006744 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His) single nucleotide variant not provided [RCV002559215]|not specified [RCV001192635] Chr12:8843183 [GRCh38]
Chr12:8995779 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3933+4A>G single nucleotide variant A2ML1-related condition [RCV003918766]|not provided [RCV001241556]|not specified [RCV001193277] Chr12:8868061 [GRCh38]
Chr12:9020657 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1249-19_1319dup duplication not specified [RCV001174960] Chr12:8843112..8843113 [GRCh38]
Chr12:8995708..8995709 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer) duplication not specified [RCV001175013] Chr12:8823246..8823247 [GRCh38]
Chr12:8975842..8975843 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3502+11C>T single nucleotide variant not provided [RCV001786448]|not specified [RCV001174886] Chr12:8861308 [GRCh38]
Chr12:9013904 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2608A>G (p.Ile870Val) single nucleotide variant not provided [RCV001227384] Chr12:8854145 [GRCh38]
Chr12:9006741 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met) single nucleotide variant not provided [RCV001221138]|not specified [RCV002509634] Chr12:8849672 [GRCh38]
Chr12:9002268 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3145C>G (p.Gln1049Glu) single nucleotide variant not provided [RCV001241204] Chr12:8857983 [GRCh38]
Chr12:9010579 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2678G>A (p.Arg893Gln) single nucleotide variant Inborn genetic diseases [RCV002429978]|not provided [RCV001229414] Chr12:8854215 [GRCh38]
Chr12:9006811 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.409+5G>A single nucleotide variant not provided [RCV001241888] Chr12:8823887 [GRCh38]
Chr12:8976483 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2301T>C (p.Ser767=) single nucleotide variant not provided [RCV000912291] Chr12:8851850 [GRCh38]
Chr12:9004446 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2409G>A (p.Gly803=) single nucleotide variant Inborn genetic diseases [RCV003380774]|not provided [RCV000912725] Chr12:8851958 [GRCh38]
Chr12:9004554 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3502+421A>G single nucleotide variant not provided [RCV001620773] Chr12:8861718 [GRCh38]
Chr12:9014314 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2848+99A>G single nucleotide variant not provided [RCV001682274] Chr12:8855691 [GRCh38]
Chr12:9008287 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1248+10G>A single nucleotide variant not specified [RCV003230846] Chr12:8841546 [GRCh38]
Chr12:8994142 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462+16G>A single nucleotide variant not specified [RCV002470153] Chr12:8829795 [GRCh38]
Chr12:8982391 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3718-182del deletion not provided [RCV001654912] Chr12:8867648 [GRCh38]
Chr12:9020244 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1538-211AAATA[6] microsatellite not provided [RCV001675089] Chr12:8845865..8845866 [GRCh38]
Chr12:8998461..8998462 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1538-216A>T single nucleotide variant not provided [RCV001674474] Chr12:8845861 [GRCh38]
Chr12:8998457 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2713-147_2713-132del deletion not provided [RCV001675519] Chr12:8854630..8854645 [GRCh38]
Chr12:9007226..9007241 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.*2-87T>G single nucleotide variant not provided [RCV001636543] Chr12:8875971 [GRCh38]
Chr12:9028567 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2235-38G>A single nucleotide variant not provided [RCV001638754] Chr12:8851746 [GRCh38]
Chr12:9004342 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.410-51dup duplication not provided [RCV001659313] Chr12:8829654..8829655 [GRCh38]
Chr12:8982250..8982251 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4062-79GT[11] microsatellite not provided [RCV001659442] Chr12:8868457..8868458 [GRCh38]
Chr12:9021053..9021054 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2713-215T>G single nucleotide variant not provided [RCV001720838] Chr12:8854565 [GRCh38]
Chr12:9007161 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+201T>G single nucleotide variant not provided [RCV001620044] Chr12:8864209 [GRCh38]
Chr12:9016805 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2849-253_2849-247del deletion not provided [RCV001621814] Chr12:8856899..8856905 [GRCh38]
Chr12:9009495..9009501 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1538-212del deletion not provided [RCV001638871] Chr12:8845865 [GRCh38]
Chr12:8998461 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.643+208G>A single nucleotide variant not provided [RCV001688518] Chr12:8835874 [GRCh38]
Chr12:8988470 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4062-79GT[10] microsatellite not provided [RCV001720855] Chr12:8868457..8868458 [GRCh38]
Chr12:9021053..9021054 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.971-179A>G single nucleotide variant not provided [RCV001654969] Chr12:8838934 [GRCh38]
Chr12:8991530 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2234+50C>T single nucleotide variant not provided [RCV001619000] Chr12:8850324 [GRCh38]
Chr12:9002920 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.855+342_855+343del deletion not provided [RCV001539371] Chr12:8837892..8837893 [GRCh38]
Chr12:8990488..8990489 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3718-186A>G single nucleotide variant not provided [RCV001675129] Chr12:8867656 [GRCh38]
Chr12:9020252 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.484-32C>T single nucleotide variant not provided [RCV001655200] Chr12:8835475 [GRCh38]
Chr12:8988071 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.*1+108G>A single nucleotide variant not provided [RCV001678163] Chr12:8875120 [GRCh38]
Chr12:9027716 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.644-221dup duplication not provided [RCV001637434] Chr12:8836012..8836013 [GRCh38]
Chr12:8988608..8988609 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.410-54_410-51del deletion not provided [RCV001614101] Chr12:8829655..8829658 [GRCh38]
Chr12:8982251..8982254 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1538-212_1538-186del deletion not provided [RCV001718277] Chr12:8845863..8845889 [GRCh38]
Chr12:8998459..8998485 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1249-44G>A single nucleotide variant not provided [RCV001652905] Chr12:8843090 [GRCh38]
Chr12:8995686 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1538-212_1538-187del deletion not provided [RCV001620589] Chr12:8845864..8845889 [GRCh38]
Chr12:8998460..8998485 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2849-248_2849-247del deletion not provided [RCV001678022] Chr12:8856899..8856900 [GRCh38]
Chr12:9009495..9009496 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1684-182C>T single nucleotide variant not provided [RCV001694731] Chr12:8847367 [GRCh38]
Chr12:8999963 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.728+161dup duplication not provided [RCV001698816] Chr12:8836481..8836482 [GRCh38]
Chr12:8989077..8989078 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1248+46T>A single nucleotide variant not provided [RCV001674018] Chr12:8841582 [GRCh38]
Chr12:8994178 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3264+108A>G single nucleotide variant not provided [RCV001617395] Chr12:8858210 [GRCh38]
Chr12:9010806 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+203del deletion not provided [RCV001617447] Chr12:8864201 [GRCh38]
Chr12:9016797 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3502+252G>A single nucleotide variant not provided [RCV001620369] Chr12:8861549 [GRCh38]
Chr12:9014145 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2848+89C>T single nucleotide variant not provided [RCV001654188] Chr12:8855681 [GRCh38]
Chr12:9008277 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.644-187A>G single nucleotide variant not provided [RCV001656463] Chr12:8836068 [GRCh38]
Chr12:8988664 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4061+68T>C single nucleotide variant not provided [RCV001674383] Chr12:8868425 [GRCh38]
Chr12:9021021 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4098dup (p.Val1367fs) duplication not provided [RCV001066732] Chr12:8868571..8868572 [GRCh38]
Chr12:9021167..9021168 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2463+13G>C single nucleotide variant Otitis media, susceptibility to [RCV002491586]|not provided [RCV002069220]|not specified [RCV001193274] Chr12:8852025 [GRCh38]
Chr12:9004621 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1684-16C>T single nucleotide variant not provided [RCV002069241]|not specified [RCV001193879] Chr12:8847533 [GRCh38]
Chr12:9000129 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2712+12T>A single nucleotide variant not provided [RCV003718382]|not specified [RCV001194015] Chr12:8854261 [GRCh38]
Chr12:9006857 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu) single nucleotide variant not specified [RCV001194020] Chr12:8822713 [GRCh38]
Chr12:8975309 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly) single nucleotide variant not specified [RCV001193232] Chr12:8847693 [GRCh38]
Chr12:9000289 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462+18G>A single nucleotide variant not provided [RCV002069221]|not specified [RCV001193275] Chr12:8829797 [GRCh38]
Chr12:8982393 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3718-16_3791dup duplication not specified [RCV001175097] Chr12:8867824..8867825 [GRCh38]
Chr12:9020420..9020421 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer) duplication not specified [RCV001175098] Chr12:8823762..8823763 [GRCh38]
Chr12:8976358..8976359 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) single nucleotide variant Inborn genetic diseases [RCV002374936]|Otitis media, susceptibility to [RCV002489653]|not provided [RCV001057799] Chr12:8823208 [GRCh38]
Chr12:8975804 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp) single nucleotide variant not provided [RCV001863065]|not specified [RCV001194016] Chr12:8847639 [GRCh38]
Chr12:9000235 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1684-47_1724dup duplication not specified [RCV001175099] Chr12:8847500..8847501 [GRCh38]
Chr12:9000096..9000097 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1538-211AAATA[7] microsatellite not provided [RCV001648787] Chr12:8845865..8845866 [GRCh38]
Chr12:8998461..8998462 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3717+30A>T single nucleotide variant not provided [RCV001694238] Chr12:8864038 [GRCh38]
Chr12:9016634 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.855+237C>T single nucleotide variant not provided [RCV001610957] Chr12:8837803 [GRCh38]
Chr12:8990399 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1833+207C>G single nucleotide variant not provided [RCV001680345] Chr12:8847905 [GRCh38]
Chr12:9000501 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.796T>C (p.Trp266Arg) single nucleotide variant not provided [RCV001067151] Chr12:8837507 [GRCh38]
Chr12:8990103 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2849-248_2849-247dup duplication not provided [RCV001611982] Chr12:8856898..8856899 [GRCh38]
Chr12:9009494..9009495 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4062-79GT[12] microsatellite not provided [RCV001650752] Chr12:8868457..8868458 [GRCh38]
Chr12:9021053..9021054 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2470A>G (p.Thr824Ala) single nucleotide variant Inborn genetic diseases [RCV002451291]|not provided [RCV001067601] Chr12:8852216 [GRCh38]
Chr12:9004812 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3502+14G>C single nucleotide variant not specified [RCV001174562] Chr12:8861311 [GRCh38]
Chr12:9013907 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2765-18T>A single nucleotide variant not specified [RCV001174645] Chr12:8855491 [GRCh38]
Chr12:9008087 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1834-20_1887dup duplication not specified [RCV001174773] Chr12:8848699..8848700 [GRCh38]
Chr12:9001295..9001296 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1684-287_1684-285del deletion not provided [RCV001534062] Chr12:8847246..8847248 [GRCh38]
Chr12:8999842..8999844 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2848+103A>G single nucleotide variant not provided [RCV001689478] Chr12:8855695 [GRCh38]
Chr12:9008291 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.483+139A>G single nucleotide variant not provided [RCV001534288] Chr12:8834821 [GRCh38]
Chr12:8987417 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.271G>A (p.Glu91Lys) single nucleotide variant Inborn genetic diseases [RCV002429736]|not provided [RCV001069450] Chr12:8823744 [GRCh38]
Chr12:8976340 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3933+27G>A single nucleotide variant not provided [RCV001724872] Chr12:8868084 [GRCh38]
Chr12:9020680 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.728+161del deletion not provided [RCV001612555] Chr12:8836482 [GRCh38]
Chr12:8989078 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.971-177del deletion not provided [RCV001641878] Chr12:8838915 [GRCh38]
Chr12:8991511 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.644-243C>A single nucleotide variant not provided [RCV001684945] Chr12:8836012 [GRCh38]
Chr12:8988608 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3235G>A (p.Val1079Met) single nucleotide variant not provided [RCV001058710] Chr12:8858073 [GRCh38]
Chr12:9010669 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3026-53G>A single nucleotide variant not provided [RCV001725503] Chr12:8857454 [GRCh38]
Chr12:9010050 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3503-119del deletion not provided [RCV001690735] Chr12:8863668 [GRCh38]
Chr12:9016264 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3503-72T>C single nucleotide variant not provided [RCV001616557] Chr12:8863722 [GRCh38]
Chr12:9016318 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3026-47T>C single nucleotide variant not provided [RCV001671685] Chr12:8857460 [GRCh38]
Chr12:9010056 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3655A>G (p.Thr1219Ala) single nucleotide variant Inborn genetic diseases [RCV003163668]|not provided [RCV001217043] Chr12:8863946 [GRCh38]
Chr12:9016542 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1802T>C (p.Leu601Pro) single nucleotide variant not provided [RCV001217053] Chr12:8847667 [GRCh38]
Chr12:9000263 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2765-7C>G single nucleotide variant not provided [RCV001217673] Chr12:8855502 [GRCh38]
Chr12:9008098 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1703C>G (p.Pro568Arg) single nucleotide variant Inborn genetic diseases [RCV002409387]|not provided [RCV001040471] Chr12:8847568 [GRCh38]
Chr12:9000164 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3710C>T (p.Ser1237Phe) single nucleotide variant Inborn genetic diseases [RCV003380807]|not provided [RCV001041399] Chr12:8864001 [GRCh38]
Chr12:9016597 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu) single nucleotide variant not provided [RCV001049751]|not specified [RCV001174843] Chr12:8823256 [GRCh38]
Chr12:8975852 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.141C>G (p.Tyr47Ter) single nucleotide variant not provided [RCV001050620] Chr12:8823260 [GRCh38]
Chr12:8975856 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.483+6C>T single nucleotide variant A2ML1-related condition [RCV003918791]|not provided [RCV001230369]|not specified [RCV003323824] Chr12:8834688 [GRCh38]
Chr12:8987284 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_144670.6(A2ML1):c.4325A>G (p.Asp1442Gly) single nucleotide variant not provided [RCV001233939] Chr12:8874971 [GRCh38]
Chr12:9027567 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.361G>A (p.Gly121Ser) single nucleotide variant not provided [RCV001233110] Chr12:8823834 [GRCh38]
Chr12:8976430 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1778C>T (p.Ala593Val) single nucleotide variant not provided [RCV001233358] Chr12:8847643 [GRCh38]
Chr12:9000239 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.(?_8822632)_(8875031_?)dup duplication not provided [RCV001031767] Chr12:8975228..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.970G>T (p.Gly324Cys) single nucleotide variant not provided [RCV001216033] Chr12:8838450 [GRCh38]
Chr12:8991046 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3677C>G (p.Ala1226Gly) single nucleotide variant Inborn genetic diseases [RCV002563235]|not provided [RCV001233487] Chr12:8863968 [GRCh38]
Chr12:9016564 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg) single nucleotide variant not provided [RCV001245753] Chr12:8837538 [GRCh38]
Chr12:8990134 [GRCh37]
Chr12:12p13.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.3933+14C>T single nucleotide variant not provided [RCV002069301]|not specified [RCV001201264] Chr12:8868071 [GRCh38]
Chr12:9020667 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1817A>G (p.Glu606Gly) single nucleotide variant not specified [RCV001201329] Chr12:8847682 [GRCh38]
Chr12:9000278 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4085C>A (p.Ser1362Tyr) single nucleotide variant not specified [RCV001201338] Chr12:8868560 [GRCh38]
Chr12:9021156 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.855+1G>A single nucleotide variant not provided [RCV001232750] Chr12:8837567 [GRCh38]
Chr12:8990163 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2420G>A (p.Arg807His) single nucleotide variant Inborn genetic diseases [RCV002451184]|not provided [RCV001046545] Chr12:8851969 [GRCh38]
Chr12:9004565 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1283C>T (p.Pro428Leu) single nucleotide variant Inborn genetic diseases [RCV003163643]|not provided [RCV001214664] Chr12:8843168 [GRCh38]
Chr12:8995764 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.913G>A (p.Gly305Arg) single nucleotide variant Inborn genetic diseases [RCV002375171]|not provided [RCV001212539] Chr12:8838393 [GRCh38]
Chr12:8990989 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu) single nucleotide variant not specified [RCV001175520] Chr12:8851915 [GRCh38]
Chr12:9004511 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3821G>A (p.Arg1274His) single nucleotide variant Inborn genetic diseases [RCV002354986]|not provided [RCV001038123] Chr12:8867945 [GRCh38]
Chr12:9020541 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2527T>G (p.Ser843Ala) single nucleotide variant not specified [RCV001201334] Chr12:8852273 [GRCh38]
Chr12:9004869 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn) single nucleotide variant Inborn genetic diseases [RCV002429873]|not provided [RCV001204866]|not specified [RCV001328331] Chr12:8854218 [GRCh38]
Chr12:9006814 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3718-6C>T single nucleotide variant not specified [RCV001255540] Chr12:8867836 [GRCh38]
Chr12:9020432 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg) single nucleotide variant Inborn genetic diseases [RCV003294161]|not provided [RCV001321815]|not specified [RCV001251362] Chr12:8836264 [GRCh38]
Chr12:8988860 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4221+17C>T single nucleotide variant not provided [RCV002069326]|not specified [RCV001251363] Chr12:8869220 [GRCh38]
Chr12:9021816 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu) single nucleotide variant Inborn genetic diseases [RCV002404823]|not provided [RCV001348397]|not specified [RCV001824955] Chr12:8846134 [GRCh38]
Chr12:8998730 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys) single nucleotide variant not specified [RCV001255530] Chr12:8843360 [GRCh38]
Chr12:8995956 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2815C>T (p.Pro939Ser) single nucleotide variant not provided [RCV001304706] Chr12:8855559 [GRCh38]
Chr12:9008155 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro) single nucleotide variant not specified [RCV001264596] Chr12:8834678 [GRCh38]
Chr12:8987274 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3718-232G>A single nucleotide variant not provided [RCV001538219] Chr12:8867610 [GRCh38]
Chr12:9020206 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3107+42A>G single nucleotide variant not provided [RCV001641599] Chr12:8857630 [GRCh38]
Chr12:9010226 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg) single nucleotide variant not provided [RCV002032601]|not specified [RCV001553556] Chr12:8851791 [GRCh38]
Chr12:9004387 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.728+13G>A single nucleotide variant not provided [RCV002069376]|not specified [RCV001260411] Chr12:8836352 [GRCh38]
Chr12:8988948 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2234+199T>C single nucleotide variant not provided [RCV001766229] Chr12:8850473 [GRCh38]
Chr12:9003069 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe) single nucleotide variant not specified [RCV001255578] Chr12:8861229 [GRCh38]
Chr12:9013825 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1738C>T (p.Gln580Ter) single nucleotide variant not provided [RCV001326790] Chr12:8847603 [GRCh38]
Chr12:9000199 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.490A>T (p.Asn164Tyr) single nucleotide variant not provided [RCV001339190] Chr12:8835513 [GRCh38]
Chr12:8988109 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2975G>A (p.Gly992Glu) single nucleotide variant not provided [RCV001314780] Chr12:8857290 [GRCh38]
Chr12:9009886 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3339+20G>A single nucleotide variant not provided [RCV002546254]|not specified [RCV001328332] Chr12:8860975 [GRCh38]
Chr12:9013571 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1081-2A>G single nucleotide variant not provided [RCV001319992]|not specified [RCV001420855] Chr12:8841367 [GRCh38]
Chr12:8993963 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3086G>A (p.Arg1029Gln) single nucleotide variant not provided [RCV001351238] Chr12:8857567 [GRCh38]
Chr12:9010163 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4221+2T>C single nucleotide variant not provided [RCV003669228]|not specified [RCV001293573] Chr12:8869205 [GRCh38]
Chr12:9021801 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile) single nucleotide variant Inborn genetic diseases [RCV002431921]|not provided [RCV001323811]|not specified [RCV001328434] Chr12:8823742 [GRCh38]
Chr12:8976338 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.772G>C (p.Val258Leu) single nucleotide variant not provided [RCV001348075] Chr12:8837483 [GRCh38]
Chr12:8990079 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.680A>G (p.Lys227Arg) single nucleotide variant not provided [RCV001337976] Chr12:8836291 [GRCh38]
Chr12:8988887 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2914G>A (p.Glu972Lys) single nucleotide variant not provided [RCV001348885] Chr12:8857229 [GRCh38]
Chr12:9009825 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2051C>T (p.Ser684Phe) single nucleotide variant not provided [RCV001348905] Chr12:8849691 [GRCh38]
Chr12:9002287 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1704C>G (p.Pro568=) single nucleotide variant not specified [RCV001293590] Chr12:8847569 [GRCh38]
Chr12:9000165 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu) single nucleotide variant not specified [RCV001328333] Chr12:8868580 [GRCh38]
Chr12:9021176 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3218G>A (p.Ser1073Asn) single nucleotide variant not provided [RCV001325984] Chr12:8858056 [GRCh38]
Chr12:9010652 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3086G>C (p.Arg1029Pro) single nucleotide variant not provided [RCV001350042] Chr12:8857567 [GRCh38]
Chr12:9010163 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2849-250_2849-247del deletion not provided [RCV001539272] Chr12:8856899..8856902 [GRCh38]
Chr12:9009495..9009498 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1556C>G (p.Ser519Cys) single nucleotide variant not provided [RCV001363052] Chr12:8846095 [GRCh38]
Chr12:8998691 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3430T>C (p.Phe1144Leu) single nucleotide variant not provided [RCV001374009] Chr12:8861225 [GRCh38]
Chr12:9013821 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3547G>A (p.Ala1183Thr) single nucleotide variant not provided [RCV001324694] Chr12:8863838 [GRCh38]
Chr12:9016434 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1327C>T (p.Arg443Ter) single nucleotide variant A2ML1-related condition [RCV003918852]|not provided [RCV001316068] Chr12:8843212 [GRCh38]
Chr12:8995808 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1227T>A (p.Asn409Lys) single nucleotide variant not provided [RCV001305363] Chr12:8841515 [GRCh38]
Chr12:8994111 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2306G>A (p.Cys769Tyr) single nucleotide variant not provided [RCV001369301] Chr12:8851855 [GRCh38]
Chr12:9004451 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln) single nucleotide variant Inborn genetic diseases [RCV002537712]|not provided [RCV003727965]|not specified [RCV001269204] Chr12:8843255 [GRCh38]
Chr12:8995851 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser) single nucleotide variant not provided [RCV001350111]|not specified [RCV001269205] Chr12:8861138 [GRCh38]
Chr12:9013734 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.63-6del deletion not provided [RCV002541640]|not specified [RCV001269214] Chr12:8823174 [GRCh38]
Chr12:8975770 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met) single nucleotide variant Inborn genetic diseases [RCV003160683]|not specified [RCV001420777] Chr12:8835563 [GRCh38]
Chr12:8988159 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg) single nucleotide variant not specified [RCV001420911] Chr12:8868010 [GRCh38]
Chr12:9020606 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) single nucleotide variant Inborn genetic diseases [RCV002438983]|not provided [RCV001510876]|not specified [RCV001420924] Chr12:8854213 [GRCh38]
Chr12:9006809 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1538-217_1538-216insTAAATAAAT insertion not provided [RCV001766214] Chr12:8845860..8845861 [GRCh38]
Chr12:8998456..8998457 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1834-202G>A single nucleotide variant not provided [RCV001766226] Chr12:8848518 [GRCh38]
Chr12:9001114 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2625G>T (p.Leu875=) single nucleotide variant Inborn genetic diseases [RCV002432151]|not provided [RCV001415234] Chr12:8854162 [GRCh38]
Chr12:9006758 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs) microsatellite not provided [RCV001315015]|not specified [RCV002282516] Chr12:8847651..8847652 [GRCh38]
Chr12:9000247..9000248 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2509T>C (p.Trp837Arg) single nucleotide variant not provided [RCV001359859] Chr12:8852255 [GRCh38]
Chr12:9004851 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1917G>A (p.Trp639Ter) single nucleotide variant not provided [RCV001312947] Chr12:8848803 [GRCh38]
Chr12:9001399 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.389T>C (p.Leu130Pro) single nucleotide variant not provided [RCV001303042] Chr12:8823862 [GRCh38]
Chr12:8976458 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2210G>A (p.Trp737Ter) single nucleotide variant not provided [RCV001313183] Chr12:8850250 [GRCh38]
Chr12:9002846 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3211C>T (p.Leu1071Phe) single nucleotide variant not provided [RCV001371484] Chr12:8858049 [GRCh38]
Chr12:9010645 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.106G>A (p.Val36Ile) single nucleotide variant not provided [RCV001313660] Chr12:8823225 [GRCh38]
Chr12:8975821 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1487A>G (p.Lys496Arg) single nucleotide variant not provided [RCV001350124] Chr12:8845452 [GRCh38]
Chr12:8998048 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.803G>A (p.Arg268Gln) single nucleotide variant Inborn genetic diseases [RCV002411957]|not provided [RCV001301331] Chr12:8837514 [GRCh38]
Chr12:8990110 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser) single nucleotide variant Inborn genetic diseases [RCV002413866]|not provided [RCV001364682] Chr12:8839208 [GRCh38]
Chr12:8991804 [GRCh37]
Chr12:12p13.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.3281A>G (p.Glu1094Gly) single nucleotide variant not provided [RCV001308545] Chr12:8860897 [GRCh38]
Chr12:9013493 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4153-3C>T single nucleotide variant not provided [RCV001308569] Chr12:8869132 [GRCh38]
Chr12:9021728 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3492_3495dup (p.Ile1166fs) duplication not provided [RCV001346475] Chr12:8861285..8861286 [GRCh38]
Chr12:9013881..9013882 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln) single nucleotide variant Inborn genetic diseases [RCV002395721]|not provided [RCV001326403]|not specified [RCV001824952] Chr12:8843272 [GRCh38]
Chr12:8995868 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_8982313)_(8982385_?)del deletion not provided [RCV001320205] Chr12:8982313..8982385 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2591G>A (p.Gly864Asp) single nucleotide variant not provided [RCV001325493] Chr12:8854128 [GRCh38]
Chr12:9006724 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1777del (p.Ala593fs) deletion not provided [RCV001321913] Chr12:8847640 [GRCh38]
Chr12:9000236 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.481C>G (p.Gln161Glu) single nucleotide variant not provided [RCV001346936] Chr12:8834680 [GRCh38]
Chr12:8987276 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.971-2A>G single nucleotide variant not provided [RCV001365241] Chr12:8839111 [GRCh38]
Chr12:8991707 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys) single nucleotide variant not provided [RCV001324201]|not specified [RCV002222698] Chr12:8829735 [GRCh38]
Chr12:8982331 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3245T>C (p.Leu1082Pro) single nucleotide variant not provided [RCV001363010] Chr12:8858083 [GRCh38]
Chr12:9010679 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1683+3A>G single nucleotide variant not provided [RCV001305715] Chr12:8846225 [GRCh38]
Chr12:8998821 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro) single nucleotide variant A2ML1-related condition [RCV003963220]|Inborn genetic diseases [RCV003346473]|not provided [RCV001327585] Chr12:8854206 [GRCh38]
Chr12:9006802 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2113A>G (p.Met705Val) single nucleotide variant Inborn genetic diseases [RCV002418913]|not provided [RCV001301939] Chr12:8849753 [GRCh38]
Chr12:9002349 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2712+3G>C single nucleotide variant not provided [RCV001322102] Chr12:8854252 [GRCh38]
Chr12:9006848 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3264+5G>A single nucleotide variant not provided [RCV001345096]|not specified [RCV003235553] Chr12:8858107 [GRCh38]
Chr12:9010703 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.2939C>T (p.Pro980Leu) single nucleotide variant not provided [RCV001324232] Chr12:8857254 [GRCh38]
Chr12:9009850 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu) single nucleotide variant not specified [RCV001375515] Chr12:8857322 [GRCh38]
Chr12:9009918 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4142C>T (p.Thr1381Ile) single nucleotide variant Inborn genetic diseases [RCV002329297]|not provided [RCV001327741] Chr12:8868617 [GRCh38]
Chr12:9021213 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3554C>G (p.Pro1185Arg) single nucleotide variant Inborn genetic diseases [RCV002456449]|not provided [RCV001324418] Chr12:8863845 [GRCh38]
Chr12:9016441 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462+6T>C single nucleotide variant not provided [RCV001352420] Chr12:8829785 [GRCh38]
Chr12:8982381 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val) single nucleotide variant A2ML1-related condition [RCV003963230]|not provided [RCV001339122]|not specified [RCV003120567] Chr12:8851825 [GRCh38]
Chr12:9004421 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1044C>G (p.Ser348Arg) single nucleotide variant Inborn genetic diseases [RCV002402889]|not provided [RCV001319340] Chr12:8839186 [GRCh38]
Chr12:8991782 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2572A>G (p.Ile858Val) single nucleotide variant not provided [RCV001302397] Chr12:8852318 [GRCh38]
Chr12:9004914 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3961C>T (p.Pro1321Ser) single nucleotide variant not provided [RCV001298600] Chr12:8868257 [GRCh38]
Chr12:9020853 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3891G>A (p.Met1297Ile) single nucleotide variant not provided [RCV001372981] Chr12:8868015 [GRCh38]
Chr12:9020611 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1176del (p.Thr393fs) deletion not provided [RCV001296538] Chr12:8841463 [GRCh38]
Chr12:8994059 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1265A>G (p.Glu422Gly) single nucleotide variant Inborn genetic diseases [RCV003170229]|not provided [RCV001963892] Chr12:8843150 [GRCh38]
Chr12:8995746 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2950G>A (p.Val984Ile) single nucleotide variant not provided [RCV001362369] Chr12:8857265 [GRCh38]
Chr12:9009861 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3617_3618insAAAGCCCAGCCTAC (p.Thr1211fs) insertion not provided [RCV001321349] Chr12:8863905..8863906 [GRCh38]
Chr12:9016501..9016502 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.50C>A (p.Ala17Glu) single nucleotide variant not provided [RCV001373357] Chr12:8822701 [GRCh38]
Chr12:8975297 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.931C>G (p.Gln311Glu) single nucleotide variant not provided [RCV001364521] Chr12:8838411 [GRCh38]
Chr12:8991007 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1778C>A (p.Ala593Glu) single nucleotide variant Inborn genetic diseases [RCV002404865]|not provided [RCV001364533] Chr12:8847643 [GRCh38]
Chr12:9000239 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.289C>T (p.Arg97Trp) single nucleotide variant Inborn genetic diseases [RCV002547701]|Otitis media, susceptibility to [RCV002499722]|not provided [RCV001358855] Chr12:8823762 [GRCh38]
Chr12:8976358 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met) single nucleotide variant Inborn genetic diseases [RCV002377492]|not provided [RCV001350858]|not specified [RCV003317484] Chr12:8868231 [GRCh38]
Chr12:9020827 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1205C>T (p.Thr402Ile) single nucleotide variant not provided [RCV001369890] Chr12:8841493 [GRCh38]
Chr12:8994089 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1969C>T (p.Arg657Cys) single nucleotide variant not provided [RCV001309226] Chr12:8848855 [GRCh38]
Chr12:9001451 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2664T>A (p.Val888=) single nucleotide variant not provided [RCV001413928] Chr12:8854201 [GRCh38]
Chr12:9006797 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4090A>G (p.Met1364Val) single nucleotide variant Inborn genetic diseases [RCV002322344]|not provided [RCV001367546] Chr12:8868565 [GRCh38]
Chr12:9021161 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.292G>A (p.Val98Met) single nucleotide variant not provided [RCV001340706] Chr12:8823765 [GRCh38]
Chr12:8976361 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) single nucleotide variant not provided [RCV003393953]|not specified [RCV001290547] Chr12:8838361 [GRCh38]
Chr12:8990957 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.3622C>T (p.Pro1208Ser) single nucleotide variant not provided [RCV001305792] Chr12:8863913 [GRCh38]
Chr12:9016509 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3002G>A (p.Arg1001Gln) single nucleotide variant Inborn genetic diseases [RCV002437039]|not provided [RCV001305890] Chr12:8857317 [GRCh38]
Chr12:9009913 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1538-13T>A single nucleotide variant not provided [RCV002070124]|not specified [RCV001293558] Chr12:8846064 [GRCh38]
Chr12:8998660 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr) single nucleotide variant not specified [RCV001328365] Chr12:8847615 [GRCh38]
Chr12:9000211 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.970+13C>T single nucleotide variant not provided [RCV002070249]|not specified [RCV001375497] Chr12:8838463 [GRCh38]
Chr12:8991059 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) deletion not provided [RCV001351214]|not specified [RCV001293497] Chr12:8854785..8854786 [GRCh38]
Chr12:9007381..9007382 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.466T>C (p.Ser156Pro) single nucleotide variant not provided [RCV001312922] Chr12:8834665 [GRCh38]
Chr12:8987261 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile) single nucleotide variant A2ML1-related condition [RCV003405583]|Inborn genetic diseases [RCV002447429]|not provided [RCV001349358]|not specified [RCV002265988] Chr12:8837555 [GRCh38]
Chr12:8990151 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3685_3686inv (p.His1229Cys) inversion not provided [RCV001349370] Chr12:8863976..8863977 [GRCh38]
Chr12:9016572..9016573 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3337G>A (p.Asp1113Asn) single nucleotide variant not provided [RCV001365903] Chr12:8860953 [GRCh38]
Chr12:9013549 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2590+19A>G single nucleotide variant not provided [RCV002070263]|not specified [RCV001420828] Chr12:8852355 [GRCh38]
Chr12:9004951 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3689A>G (p.Asn1230Ser) single nucleotide variant not provided [RCV001339861] Chr12:8863980 [GRCh38]
Chr12:9016576 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4278C>T (p.Thr1426=) single nucleotide variant Inborn genetic diseases [RCV002329533]|not provided [RCV001460783] Chr12:8874481 [GRCh38]
Chr12:9027077 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.444C>T (p.Phe148=) single nucleotide variant not provided [RCV001475056] Chr12:8829761 [GRCh38]
Chr12:8982357 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3117G>A (p.Ala1039=) single nucleotide variant Inborn genetic diseases [RCV002324070]|not provided [RCV001481755] Chr12:8857955 [GRCh38]
Chr12:9010551 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2464-5C>T single nucleotide variant not provided [RCV001465286] Chr12:8852205 [GRCh38]
Chr12:9004801 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2320A>G (p.Arg774Gly) single nucleotide variant not provided [RCV001435779] Chr12:8851869 [GRCh38]
Chr12:9004465 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.282C>T (p.Ala94=) single nucleotide variant A2ML1-related condition [RCV003938831]|Inborn genetic diseases [RCV002439104]|not provided [RCV001465680] Chr12:8823755 [GRCh38]
Chr12:8976351 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2730G>A (p.Val910=) single nucleotide variant not provided [RCV001476261] Chr12:8854797 [GRCh38]
Chr12:9007393 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4025C>T (p.Thr1342Ile) single nucleotide variant A2ML1-related condition [RCV003920937]|Inborn genetic diseases [RCV002358977]|not provided [RCV001436256] Chr12:8868321 [GRCh38]
Chr12:9020917 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1902A>G (p.Pro634=) single nucleotide variant not provided [RCV001471321] Chr12:8848788 [GRCh38]
Chr12:9001384 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3234C>T (p.Asn1078=) single nucleotide variant Inborn genetic diseases [RCV002324120]|not provided [RCV001516481] Chr12:8858072 [GRCh38]
Chr12:9010668 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2900C>T (p.Pro967Leu) single nucleotide variant Inborn genetic diseases [RCV002564173]|not provided [RCV001505371] Chr12:8857215 [GRCh38]
Chr12:9009811 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.921G>A (p.Ala307=) single nucleotide variant Inborn genetic diseases [RCV003298690]|not provided [RCV001415661] Chr12:8838401 [GRCh38]
Chr12:8990997 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1020A>G (p.Gly340=) single nucleotide variant not provided [RCV001489448] Chr12:8839162 [GRCh38]
Chr12:8991758 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2916G>A (p.Glu972=) single nucleotide variant not provided [RCV001489723] Chr12:8857231 [GRCh38]
Chr12:9009827 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2764+80_2764+81dup duplication not provided [RCV001665029] Chr12:8854896..8854897 [GRCh38]
Chr12:9007492..9007493 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3965C>A (p.Thr1322Lys) single nucleotide variant A2ML1-related condition [RCV003928891]|Inborn genetic diseases [RCV002377614]|not provided [RCV001403169] Chr12:8868261 [GRCh38]
Chr12:9020857 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-7C>G single nucleotide variant not provided [RCV001444021] Chr12:8846070 [GRCh38]
Chr12:8998666 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.*220G>A single nucleotide variant not provided [RCV001541561] Chr12:8876276 [GRCh38]
Chr12:9028872 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1812C>T (p.Asp604=) single nucleotide variant not provided [RCV001447713] Chr12:8847677 [GRCh38]
Chr12:9000273 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3026-8C>T single nucleotide variant not provided [RCV001393431] Chr12:8857499 [GRCh38]
Chr12:9010095 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1377C>T (p.Asn459=) single nucleotide variant Inborn genetic diseases [RCV003170036]|not provided [RCV001408584] Chr12:8843262 [GRCh38]
Chr12:8995858 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.528T>C (p.Pro176=) single nucleotide variant Inborn genetic diseases [RCV002350851]|not provided [RCV001432222] Chr12:8835551 [GRCh38]
Chr12:8988147 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3786C>T (p.Ile1262=) single nucleotide variant not provided [RCV001494153] Chr12:8867910 [GRCh38]
Chr12:9020506 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1731G>C (p.Val577=) single nucleotide variant not provided [RCV001490731] Chr12:8847596 [GRCh38]
Chr12:9000192 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1833+305del deletion not provided [RCV001670782] Chr12:8847988 [GRCh38]
Chr12:9000584 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1538-208_1538-187del deletion not provided [RCV001725770] Chr12:8845868..8845889 [GRCh38]
Chr12:8998464..8998485 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2463+13G>A single nucleotide variant not specified [RCV001526994] Chr12:8852025 [GRCh38]
Chr12:9004621 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.738T>C (p.Tyr246=) single nucleotide variant Inborn genetic diseases [RCV002384702]|not provided [RCV001452003] Chr12:8837449 [GRCh38]
Chr12:8990045 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3717+257C>T single nucleotide variant not provided [RCV001695617] Chr12:8864265 [GRCh38]
Chr12:9016861 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1833+10T>C single nucleotide variant not provided [RCV003688939]|not specified [RCV001526959] Chr12:8847708 [GRCh38]
Chr12:9000304 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1575T>C (p.Thr525=) single nucleotide variant not provided [RCV001476764] Chr12:8846114 [GRCh38]
Chr12:8998710 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2849-123C>T single nucleotide variant not provided [RCV001708018] Chr12:8857041 [GRCh38]
Chr12:9009637 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3502+824T>C single nucleotide variant not provided [RCV001651996] Chr12:8862121 [GRCh38]
Chr12:9014717 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2849-29T>C single nucleotide variant not provided [RCV001695886] Chr12:8857135 [GRCh38]
Chr12:9009731 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4152+8A>G single nucleotide variant not provided [RCV001480153] Chr12:8868635 [GRCh38]
Chr12:9021231 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.972T>G (p.Gly324=) single nucleotide variant Inborn genetic diseases [RCV002384704]|not provided [RCV001453260] Chr12:8839114 [GRCh38]
Chr12:8991710 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3993G>A (p.Val1331=) single nucleotide variant Inborn genetic diseases [RCV002377866]|not provided [RCV001498128] Chr12:8868289 [GRCh38]
Chr12:9020885 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.855+65C>T single nucleotide variant not provided [RCV001687909] Chr12:8837631 [GRCh38]
Chr12:8990227 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.4152+94AC[8] microsatellite not provided [RCV001688099] Chr12:8868720..8868721 [GRCh38]
Chr12:9021316..9021317 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2713-4G>A single nucleotide variant not provided [RCV001470144] Chr12:8854776 [GRCh38]
Chr12:9007372 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1098T>C (p.His366=) single nucleotide variant not provided [RCV001485913] Chr12:8841386 [GRCh38]
Chr12:8993982 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3648G>A (p.Ala1216=) single nucleotide variant Inborn genetic diseases [RCV002350877]|not provided [RCV001442534] Chr12:8863939 [GRCh38]
Chr12:9016535 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2274C>T (p.Asp758=) single nucleotide variant Inborn genetic diseases [RCV002449320]|not provided [RCV001498786] Chr12:8851823 [GRCh38]
Chr12:9004419 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1992G>A (p.Ser664=) single nucleotide variant Inborn genetic diseases [RCV002421174]|not specified [RCV001527062] Chr12:8848878 [GRCh38]
Chr12:9001474 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2199C>T (p.Phe733=) single nucleotide variant not provided [RCV001461023] Chr12:8850239 [GRCh38]
Chr12:9002835 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3933+8_3933+11del deletion not provided [RCV001480668] Chr12:8868064..8868067 [GRCh38]
Chr12:9020660..9020663 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+10G>A single nucleotide variant not provided [RCV001485368] Chr12:8829789 [GRCh38]
Chr12:8982385 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.282C>G (p.Ala94=) single nucleotide variant Inborn genetic diseases [RCV002439096]|not provided [RCV001462177] Chr12:8823755 [GRCh38]
Chr12:8976351 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2550C>A (p.Asp850Glu) single nucleotide variant not provided [RCV001519991] Chr12:8852296 [GRCh38]
Chr12:9004892 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3686A>G (p.His1229Arg) single nucleotide variant not provided [RCV001519992]|not specified [RCV001701188] Chr12:8863977 [GRCh38]
Chr12:9016573 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met) single nucleotide variant not provided [RCV001730434] Chr12:8848892 [GRCh38]
Chr12:9001488 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser) single nucleotide variant Inborn genetic diseases [RCV002382481]|not provided [RCV003093925]|not specified [RCV002238678] Chr12:8843263 [GRCh38]
Chr12:8995859 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2645G>A (p.Gly882Glu) single nucleotide variant not provided [RCV003109062] Chr12:8854182 [GRCh38]
Chr12:9006778 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.246+149A>G single nucleotide variant not provided [RCV001767962] Chr12:8823514 [GRCh38]
Chr12:8976110 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-208_1538-188del deletion not provided [RCV001767972] Chr12:8845869..8845889 [GRCh38]
Chr12:8998465..8998485 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1477-251A>G single nucleotide variant not provided [RCV001768171] Chr12:8845191 [GRCh38]
Chr12:8997787 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1683+270G>T single nucleotide variant not provided [RCV001769543] Chr12:8846492 [GRCh38]
Chr12:8999088 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1476+307G>A single nucleotide variant not provided [RCV001769586] Chr12:8843668 [GRCh38]
Chr12:8996264 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-208T>A single nucleotide variant not provided [RCV001769691] Chr12:8845869 [GRCh38]
Chr12:8998465 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.643+189T>A single nucleotide variant not provided [RCV001769851] Chr12:8835855 [GRCh38]
Chr12:8988451 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1833+305dup duplication not provided [RCV001752993] Chr12:8847987..8847988 [GRCh38]
Chr12:9000583..9000584 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+131G>A single nucleotide variant not provided [RCV001753011] Chr12:8829910 [GRCh38]
Chr12:8982506 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-193_1538-188del deletion not provided [RCV001753189] Chr12:8845884..8845889 [GRCh38]
Chr12:8998480..8998485 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.973G>A (p.Val325Met) single nucleotide variant not provided [RCV002541101]|not specified [RCV001779450] Chr12:8839115 [GRCh38]
Chr12:8991711 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.855+212G>T single nucleotide variant not provided [RCV001769683] Chr12:8837778 [GRCh38]
Chr12:8990374 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-203T>A single nucleotide variant not provided [RCV001769837] Chr12:8845874 [GRCh38]
Chr12:8998470 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2120-36T>C single nucleotide variant not provided [RCV001759368] Chr12:8850124 [GRCh38]
Chr12:9002720 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2976G>T (p.Gly992=) single nucleotide variant not provided [RCV001767956] Chr12:8857291 [GRCh38]
Chr12:9009887 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met) single nucleotide variant Inborn genetic diseases [RCV002361046]|not provided [RCV001769767] Chr12:8836303 [GRCh38]
Chr12:8988899 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144670.6(A2ML1):c.2590+24G>A single nucleotide variant not provided [RCV001766156] Chr12:8852360 [GRCh38]
Chr12:9004956 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2848+106A>C single nucleotide variant not provided [RCV001766210] Chr12:8855698 [GRCh38]
Chr12:9008294 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1249-35C>T single nucleotide variant not provided [RCV001753017] Chr12:8843099 [GRCh38]
Chr12:8995695 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1684-288_1684-285del deletion not provided [RCV001753053] Chr12:8847246..8847249 [GRCh38]
Chr12:8999842..8999845 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+190G>A single nucleotide variant not provided [RCV001753092] Chr12:8829969 [GRCh38]
Chr12:8982565 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.644-286C>T single nucleotide variant not provided [RCV001767942] Chr12:8835969 [GRCh38]
Chr12:8988565 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter) single nucleotide variant not specified [RCV001733409] Chr12:8822680 [GRCh38]
Chr12:8975276 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.410-52_410-51dup duplication not provided [RCV001768013] Chr12:8829654..8829655 [GRCh38]
Chr12:8982250..8982251 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-212_1538-208del deletion not provided [RCV001769825] Chr12:8845865..8845869 [GRCh38]
Chr12:8998461..8998465 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter) single nucleotide variant not specified [RCV001797955] Chr12:8839164 [GRCh38]
Chr12:8991760 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=) single nucleotide variant not provided [RCV002541314]|not specified [RCV001797956] Chr12:8857586 [GRCh38]
Chr12:9010182 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1538-212_1538-184del deletion not provided [RCV001757697] Chr12:8845861..8845889 [GRCh38]
Chr12:8998457..8998485 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1477-299G>T single nucleotide variant not provided [RCV001769554] Chr12:8845143 [GRCh38]
Chr12:8997739 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-198del deletion not provided [RCV001757575] Chr12:8845879 [GRCh38]
Chr12:8998475 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.970+318C>T single nucleotide variant not provided [RCV001757666] Chr12:8838768 [GRCh38]
Chr12:8991364 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-193del deletion not provided [RCV001769893] Chr12:8845884 [GRCh38]
Chr12:8998480 [GRCh37]
Chr12:12p13.31		 likely benign
NC_000012.12:g.8822235C>T single nucleotide variant not provided [RCV001769927] Chr12:8822235 [GRCh38]
Chr12:8974831 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.855+343del deletion not provided [RCV001774976] Chr12:8837892 [GRCh38]
Chr12:8990488 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.921G>C (p.Ala307=) single nucleotide variant not specified [RCV001733410] Chr12:8838401 [GRCh38]
Chr12:8990997 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+29G>A single nucleotide variant not provided [RCV001759338] Chr12:8829808 [GRCh38]
Chr12:8982404 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1080+143A>G single nucleotide variant not provided [RCV001776540] Chr12:8839365 [GRCh38]
Chr12:8991961 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3717+279C>T single nucleotide variant not provided [RCV001759382] Chr12:8864287 [GRCh38]
Chr12:9016883 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4222-318C>T single nucleotide variant not provided [RCV001757587] Chr12:8874107 [GRCh38]
Chr12:9026703 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+139G>A single nucleotide variant not provided [RCV001768077] Chr12:8829918 [GRCh38]
Chr12:8982514 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.410-52_410-51del deletion not provided [RCV001768184] Chr12:8829655..8829656 [GRCh38]
Chr12:8982251..8982252 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1537+22G>A single nucleotide variant not provided [RCV001733098] Chr12:8845524 [GRCh38]
Chr12:8998120 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1684-286_1684-285dup duplication not provided [RCV001753015] Chr12:8847245..8847246 [GRCh38]
Chr12:8999841..8999842 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4222-348G>A single nucleotide variant not provided [RCV001753075] Chr12:8874077 [GRCh38]
Chr12:9026673 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.971-211G>A single nucleotide variant not provided [RCV001776550] Chr12:8838902 [GRCh38]
Chr12:8991498 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-212_1538-185del deletion not provided [RCV001753107] Chr12:8845862..8845889 [GRCh38]
Chr12:8998458..8998485 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1684-315C>G single nucleotide variant not provided [RCV001757648] Chr12:8847234 [GRCh38]
Chr12:8999830 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2849-162T>C single nucleotide variant not provided [RCV001753143] Chr12:8857002 [GRCh38]
Chr12:9009598 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr) single nucleotide variant not specified [RCV001806828] Chr12:8839163 [GRCh38]
Chr12:8991759 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.971-177dup duplication not provided [RCV001806537] Chr12:8838914..8838915 [GRCh38]
Chr12:8991510..8991511 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.3887G>C (p.Gly1296Ala) single nucleotide variant not provided [RCV002040301] Chr12:8868011 [GRCh38]
Chr12:9020607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3346A>C (p.Met1116Leu) single nucleotide variant A2ML1-related condition [RCV003416583]|not provided [RCV001913772] Chr12:8861141 [GRCh38]
Chr12:9013737 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3820C>T (p.Arg1274Cys) single nucleotide variant Inborn genetic diseases [RCV002359285]|not provided [RCV002044649] Chr12:8867944 [GRCh38]
Chr12:9020540 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.474G>A (p.Val158=) single nucleotide variant not provided [RCV001988494] Chr12:8834673 [GRCh38]
Chr12:8987269 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.409+12A>G single nucleotide variant not provided [RCV001969220] Chr12:8823894 [GRCh38]
Chr12:8976490 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1082_1083insTTCTTT (p.Ile361_Arg362insSerLeu) insertion not provided [RCV001988195] Chr12:8841369..8841370 [GRCh38]
Chr12:8993965..8993966 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4222-3C>T single nucleotide variant not provided [RCV001950311] Chr12:8874422 [GRCh38]
Chr12:9027018 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2661dup (p.Val888fs) duplication not provided [RCV001896501] Chr12:8854195..8854196 [GRCh38]
Chr12:9006791..9006792 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=) single nucleotide variant A2ML1-related condition [RCV003968593]|not provided [RCV002044830] Chr12:8868232 [GRCh38]
Chr12:9020828 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_144670.6(A2ML1):c.2884G>T (p.Gly962Cys) single nucleotide variant not provided [RCV001969182] Chr12:8857199 [GRCh38]
Chr12:9009795 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3475_3476del (p.Gln1159fs) deletion not provided [RCV002006835] Chr12:8861269..8861270 [GRCh38]
Chr12:9013865..9013866 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1154G>T (p.Gly385Val) single nucleotide variant not provided [RCV001983931] Chr12:8841442 [GRCh38]
Chr12:8994038 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val) single nucleotide variant not specified [RCV001844764] Chr12:8860912 [GRCh38]
Chr12:9013508 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.868G>A (p.Gly290Arg) single nucleotide variant not provided [RCV001909149] Chr12:8838348 [GRCh38]
Chr12:8990944 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3085C>T (p.Arg1029Ter) single nucleotide variant not provided [RCV001985583] Chr12:8857566 [GRCh38]
Chr12:9010162 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.3200C>T (p.Ala1067Val) single nucleotide variant not provided [RCV002040478] Chr12:8858038 [GRCh38]
Chr12:9010634 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1405G>C (p.Glu469Gln) single nucleotide variant not provided [RCV001987580] Chr12:8843290 [GRCh38]
Chr12:8995886 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.158C>T (p.Thr53Met) single nucleotide variant not provided [RCV001891685] Chr12:8823277 [GRCh38]
Chr12:8975873 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1313C>G (p.Ala438Gly) single nucleotide variant not provided [RCV001928311] Chr12:8843198 [GRCh38]
Chr12:8995794 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1753C>T (p.Pro585Ser) single nucleotide variant not provided [RCV001983976] Chr12:8847618 [GRCh38]
Chr12:9000214 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3713C>T (p.Thr1238Ile) single nucleotide variant Inborn genetic diseases [RCV002344001]|not provided [RCV001909182] Chr12:8864004 [GRCh38]
Chr12:9016600 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser) single nucleotide variant not specified [RCV001844763] Chr12:8838421 [GRCh38]
Chr12:8991017 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1081-1G>T single nucleotide variant not provided [RCV001909203] Chr12:8841368 [GRCh38]
Chr12:8993964 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2120-10A>G single nucleotide variant not provided [RCV001871521] Chr12:8850150 [GRCh38]
Chr12:9002746 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2103C>G (p.Tyr701Ter) single nucleotide variant not provided [RCV001967307] Chr12:8849743 [GRCh38]
Chr12:9002339 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
NM_144670.6(A2ML1):c.292_294del (p.Val98del) deletion not provided [RCV001968315] Chr12:8823764..8823766 [GRCh38]
Chr12:8976360..8976362 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3829A>G (p.Asn1277Asp) single nucleotide variant not provided [RCV001985165] Chr12:8867953 [GRCh38]
Chr12:9020549 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.576G>C (p.Met192Ile) single nucleotide variant not provided [RCV002023424] Chr12:8835599 [GRCh38]
Chr12:8988195 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3017T>C (p.Leu1006Pro) single nucleotide variant Inborn genetic diseases [RCV002441163]|not provided [RCV002006274] Chr12:8857332 [GRCh38]
Chr12:9009928 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1175T>C (p.Val392Ala) single nucleotide variant not provided [RCV001926682] Chr12:8841463 [GRCh38]
Chr12:8994059 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe) single nucleotide variant not provided [RCV002545253]|not specified [RCV001844762] Chr12:8852007 [GRCh38]
Chr12:9004603 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys) single nucleotide variant not provided [RCV001945186]|not specified [RCV003317547] Chr12:8851787 [GRCh38]
Chr12:9004383 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.463-2A>G single nucleotide variant not provided [RCV001969570] Chr12:8834660 [GRCh38]
Chr12:8987256 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3037G>T (p.Glu1013Ter) single nucleotide variant not provided [RCV002004797] Chr12:8857518 [GRCh38]
Chr12:9010114 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1845G>A (p.Met615Ile) single nucleotide variant not provided [RCV001908996] Chr12:8848731 [GRCh38]
Chr12:9001327 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3353G>A (p.Ser1118Asn) single nucleotide variant not provided [RCV002003275] Chr12:8861148 [GRCh38]
Chr12:9013744 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.532C>G (p.Gln178Glu) single nucleotide variant Inborn genetic diseases [RCV003167116]|not provided [RCV001909380] Chr12:8835555 [GRCh38]
Chr12:8988151 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly) single nucleotide variant not specified [RCV001825049] Chr12:8847595 [GRCh38]
Chr12:9000191 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3265-3T>C single nucleotide variant not provided [RCV001944409] Chr12:8860878 [GRCh38]
Chr12:9013474 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4009A>G (p.Arg1337Gly) single nucleotide variant not provided [RCV001944671] Chr12:8868305 [GRCh38]
Chr12:9020901 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2864C>T (p.Thr955Ile) single nucleotide variant Inborn genetic diseases [RCV002441073]|not provided [RCV001962474] Chr12:8857179 [GRCh38]
Chr12:9009775 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2521C>T (p.Gln841Ter) single nucleotide variant not provided [RCV001962480] Chr12:8852267 [GRCh38]
Chr12:9004863 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.374A>G (p.Gln125Arg) single nucleotide variant Inborn genetic diseases [RCV002344111]|not provided [RCV002014501] Chr12:8823847 [GRCh38]
Chr12:8976443 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1969C>G (p.Arg657Gly) single nucleotide variant not provided [RCV001900699] Chr12:8848855 [GRCh38]
Chr12:9001451 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1198C>T (p.Pro400Ser) single nucleotide variant not provided [RCV001974467] Chr12:8841486 [GRCh38]
Chr12:8994082 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3778G>A (p.Glu1260Lys) single nucleotide variant not provided [RCV001901081] Chr12:8867902 [GRCh38]
Chr12:9020498 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2120-2A>C single nucleotide variant not provided [RCV001941470] Chr12:8850158 [GRCh38]
Chr12:9002754 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1016T>C (p.Met339Thr) single nucleotide variant not provided [RCV001888770] Chr12:8839158 [GRCh38]
Chr12:8991754 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3475C>T (p.Gln1159Ter) single nucleotide variant not provided [RCV001933105] Chr12:8861270 [GRCh38]
Chr12:9013866 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3697G>A (p.Gly1233Arg) single nucleotide variant not provided [RCV001887011] Chr12:8863988 [GRCh38]
Chr12:9016584 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3926A>G (p.Tyr1309Cys) single nucleotide variant not provided [RCV001866845] Chr12:8868050 [GRCh38]
Chr12:9020646 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.407A>G (p.Gln136Arg) single nucleotide variant Inborn genetic diseases [RCV002324377]|not provided [RCV001974883] Chr12:8823880 [GRCh38]
Chr12:8976476 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.746C>G (p.Pro249Arg) single nucleotide variant not provided [RCV002036887] Chr12:8837457 [GRCh38]
Chr12:8990053 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2343T>C (p.Thr781=) single nucleotide variant not provided [RCV001941628] Chr12:8851892 [GRCh38]
Chr12:9004488 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3104C>A (p.Thr1035Lys) single nucleotide variant not provided [RCV001907004] Chr12:8857585 [GRCh38]
Chr12:9010181 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.724T>C (p.Cys242Arg) single nucleotide variant not provided [RCV001934683] Chr12:8836335 [GRCh38]
Chr12:8988931 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.614C>T (p.Thr205Ile) single nucleotide variant not provided [RCV001942583] Chr12:8835637 [GRCh38]
Chr12:8988233 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2854A>C (p.Ile952Leu) single nucleotide variant not provided [RCV002030556] Chr12:8857169 [GRCh38]
Chr12:9009765 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3748A>T (p.Lys1250Ter) single nucleotide variant not provided [RCV001953077] Chr12:8867872 [GRCh38]
Chr12:9020468 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2534G>A (p.Cys845Tyr) single nucleotide variant not provided [RCV002014291] Chr12:8852280 [GRCh38]
Chr12:9004876 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.73G>A (p.Val25Met) single nucleotide variant Inborn genetic diseases [RCV002386669]|not provided [RCV001897970] Chr12:8823192 [GRCh38]
Chr12:8975788 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3005C>T (p.Ala1002Val) single nucleotide variant Inborn genetic diseases [RCV002441000]|not provided [RCV001917955] Chr12:8857320 [GRCh38]
Chr12:9009916 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.494G>A (p.Ser165Asn) single nucleotide variant Inborn genetic diseases [RCV003264203]|not provided [RCV001900799] Chr12:8835517 [GRCh38]
Chr12:8988113 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2188C>T (p.Arg730Cys) single nucleotide variant Inborn genetic diseases [RCV002425333]|Otitis media, susceptibility to [RCV002497900]|not provided [RCV001975356] Chr12:8850228 [GRCh38]
Chr12:9002824 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1999G>C (p.Glu667Gln) single nucleotide variant not provided [RCV001955953] Chr12:8848885 [GRCh38]
Chr12:9001481 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1684G>C (p.Val562Leu) single nucleotide variant not provided [RCV001957176] Chr12:8847549 [GRCh38]
Chr12:9000145 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser) single nucleotide variant A2ML1-related condition [RCV003416564]|Inborn genetic diseases [RCV002397874]|not provided [RCV001897036]|not specified [RCV002469426] Chr12:8846169 [GRCh38]
Chr12:8998765 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4267_4274del (p.Val1423fs) deletion not provided [RCV001879159] Chr12:8874468..8874475 [GRCh38]
Chr12:9027064..9027071 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3292A>G (p.Thr1098Ala) single nucleotide variant not provided [RCV001975946] Chr12:8860908 [GRCh38]
Chr12:9013504 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.137G>T (p.Gly46Val) single nucleotide variant not provided [RCV001897246] Chr12:8823256 [GRCh38]
Chr12:8975852 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.815G>A (p.Arg272Gln) single nucleotide variant Inborn genetic diseases [RCV003269063]|not provided [RCV001991611] Chr12:8837526 [GRCh38]
Chr12:8990122 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2657G>T (p.Gly886Val) single nucleotide variant Otitis media, susceptibility to [RCV002506939]|not provided [RCV001879417] Chr12:8854194 [GRCh38]
Chr12:9006790 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3718-2del deletion not provided [RCV001933137] Chr12:8867840 [GRCh38]
Chr12:9020436 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2125G>A (p.Gly709Ser) single nucleotide variant Inborn genetic diseases [RCV002423042]|not provided [RCV001933182] Chr12:8850165 [GRCh38]
Chr12:9002761 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2974G>C (p.Gly992Arg) single nucleotide variant not provided [RCV001930705] Chr12:8857289 [GRCh38]
Chr12:9009885 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4070G>A (p.Gly1357Glu) single nucleotide variant not provided [RCV001883160] Chr12:8868545 [GRCh38]
Chr12:9021141 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.70C>G (p.Leu24Val) single nucleotide variant Inborn genetic diseases [RCV002361225]|not provided [RCV001919044] Chr12:8823189 [GRCh38]
Chr12:8975785 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4074C>G (p.Ser1358Arg) single nucleotide variant Inborn genetic diseases [RCV002324306]|not provided [RCV001901634] Chr12:8868549 [GRCh38]
Chr12:9021145 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2451G>A (p.Lys817=) single nucleotide variant not provided [RCV001883754] Chr12:8852000 [GRCh38]
Chr12:9004596 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.1429G>A (p.Asp477Asn) single nucleotide variant not provided [RCV001938997] Chr12:8843314 [GRCh38]
Chr12:8995910 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3497T>C (p.Ile1166Thr) single nucleotide variant not provided [RCV001897914] Chr12:8861292 [GRCh38]
Chr12:9013888 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2641T>C (p.Cys881Arg) single nucleotide variant not provided [RCV001882361] Chr12:8854178 [GRCh38]
Chr12:9006774 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2511G>C (p.Trp837Cys) single nucleotide variant not provided [RCV001940324] Chr12:8852257 [GRCh38]
Chr12:9004853 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.112_114del (p.Lys38del) deletion not provided [RCV002028389] Chr12:8823229..8823231 [GRCh38]
Chr12:8975825..8975827 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1788G>C (p.Glu596Asp) single nucleotide variant Inborn genetic diseases [RCV002571184]|not provided [RCV001959220] Chr12:8847653 [GRCh38]
Chr12:9000249 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2530del (p.Ser844fs) deletion not provided [RCV002031954] Chr12:8852276 [GRCh38]
Chr12:9004872 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1476T>C (p.Tyr492=) single nucleotide variant not provided [RCV001937309] Chr12:8843361 [GRCh38]
Chr12:8995957 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2294C>T (p.Ala765Val) single nucleotide variant not provided [RCV001940478] Chr12:8851843 [GRCh38]
Chr12:9004439 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4361A>G (p.Glu1454Gly) single nucleotide variant A2ML1-related condition [RCV003984144]|Inborn genetic diseases [RCV002331446]|not provided [RCV001933033] Chr12:8875007 [GRCh38]
Chr12:9027603 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4339A>T (p.Ile1447Phe) single nucleotide variant Inborn genetic diseases [RCV002554252]|not provided [RCV001906075] Chr12:8874985 [GRCh38]
Chr12:9027581 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.797G>A (p.Trp266Ter) single nucleotide variant not provided [RCV001925959] Chr12:8837508 [GRCh38]
Chr12:8990104 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2890G>A (p.Val964Met) single nucleotide variant Inborn genetic diseases [RCV002441233]|not provided [RCV002048742] Chr12:8857205 [GRCh38]
Chr12:9009801 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2284G>A (p.Glu762Lys) single nucleotide variant not provided [RCV002028857] Chr12:8851833 [GRCh38]
Chr12:9004429 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.798G>A (p.Trp266Ter) single nucleotide variant not provided [RCV001883552] Chr12:8837509 [GRCh38]
Chr12:8990105 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2822C>T (p.Ser941Leu) single nucleotide variant Inborn genetic diseases [RCV002549048]|Otitis media, susceptibility to [RCV002479825]|not provided [RCV002049015] Chr12:8855566 [GRCh38]
Chr12:9008162 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3646G>C (p.Ala1216Pro) single nucleotide variant not provided [RCV002026582] Chr12:8863937 [GRCh38]
Chr12:9016533 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2455T>G (p.Cys819Gly) single nucleotide variant not provided [RCV001989440] Chr12:8852004 [GRCh38]
Chr12:9004600 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3230C>T (p.Ala1077Val) single nucleotide variant Inborn genetic diseases [RCV002324338]|not provided [RCV001923755] Chr12:8858068 [GRCh38]
Chr12:9010664 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.483+5G>A single nucleotide variant not provided [RCV001923770] Chr12:8834687 [GRCh38]
Chr12:8987283 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2849-10T>A single nucleotide variant not provided [RCV001938381] Chr12:8857154 [GRCh38]
Chr12:9009750 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) single nucleotide variant Inborn genetic diseases [RCV002422916]|not provided [RCV001905086]|not specified [RCV002236028] Chr12:8848856 [GRCh38]
Chr12:9001452 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_144670.6(A2ML1):c.1981T>C (p.Trp661Arg) single nucleotide variant not provided [RCV002034348] Chr12:8848867 [GRCh38]
Chr12:9001463 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1612_1616dup (p.Ile539fs) duplication not provided [RCV002033778] Chr12:8846148..8846149 [GRCh38]
Chr12:8998744..8998745 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val) single nucleotide variant Inborn genetic diseases [RCV002406950]|Otitis media, susceptibility to [RCV002506911]|not provided [RCV001905473] Chr12:8848831 [GRCh38]
Chr12:9001427 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile) single nucleotide variant Inborn genetic diseases [RCV003303475]|not provided [RCV001981760]|not specified [RCV003388064] Chr12:8851809 [GRCh38]
Chr12:9004405 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3670T>C (p.Trp1224Arg) single nucleotide variant not provided [RCV001907317] Chr12:8863961 [GRCh38]
Chr12:9016557 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.918T>A (p.Tyr306Ter) single nucleotide variant not provided [RCV001931161] Chr12:8838398 [GRCh38]
Chr12:8990994 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3220G>A (p.Gly1074Ser) single nucleotide variant not provided [RCV001981284] Chr12:8858058 [GRCh38]
Chr12:9010654 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4301A>G (p.Lys1434Arg) single nucleotide variant Inborn genetic diseases [RCV002331506]|not provided [RCV001960420] Chr12:8874504 [GRCh38]
Chr12:9027100 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3523C>T (p.Gln1175Ter) single nucleotide variant not provided [RCV001960422] Chr12:8863814 [GRCh38]
Chr12:9016410 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3677C>A (p.Ala1226Asp) single nucleotide variant Inborn genetic diseases [RCV002458823]|not provided [RCV001933900] Chr12:8863968 [GRCh38]
Chr12:9016564 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3427A>G (p.Ile1143Val) single nucleotide variant not provided [RCV001957585] Chr12:8861222 [GRCh38]
Chr12:9013818 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2809A>G (p.Ile937Val) single nucleotide variant Inborn genetic diseases [RCV002441234]|not provided [RCV002048859] Chr12:8855553 [GRCh38]
Chr12:9008149 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3665T>C (p.Val1222Ala) single nucleotide variant not provided [RCV001900846] Chr12:8863956 [GRCh38]
Chr12:9016552 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2014T>C (p.Phe672Leu) single nucleotide variant Inborn genetic diseases [RCV003250388]|Otitis media, susceptibility to [RCV002486569]|not provided [RCV001989021] Chr12:8848900 [GRCh38]
Chr12:9001496 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.748A>C (p.Met250Leu) single nucleotide variant Inborn genetic diseases [RCV003167420]|not provided [RCV001934362] Chr12:8837459 [GRCh38]
Chr12:8990055 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1478T>C (p.Leu493Ser) single nucleotide variant not provided [RCV001879585] Chr12:8845443 [GRCh38]
Chr12:8998039 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.335A>G (p.Lys112Arg) single nucleotide variant not provided [RCV001955149] Chr12:8823808 [GRCh38]
Chr12:8976404 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1874A>G (p.Tyr625Cys) single nucleotide variant not provided [RCV002014576] Chr12:8848760 [GRCh38]
Chr12:9001356 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2029-10T>A single nucleotide variant not provided [RCV001918186] Chr12:8849659 [GRCh38]
Chr12:9002255 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1313C>A (p.Ala438Asp) single nucleotide variant not provided [RCV001920912] Chr12:8843198 [GRCh38]
Chr12:8995794 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4036T>A (p.Ser1346Thr) single nucleotide variant Inborn genetic diseases [RCV002370564]|not provided [RCV001955239] Chr12:8868332 [GRCh38]
Chr12:9020928 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1081-19A>G single nucleotide variant not provided [RCV002109890] Chr12:8841350 [GRCh38]
Chr12:8993946 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2469G>A (p.Gln823=) single nucleotide variant Inborn genetic diseases [RCV002454519]|not provided [RCV002125507] Chr12:8852215 [GRCh38]
Chr12:9004811 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2849-19C>G single nucleotide variant not provided [RCV002126688] Chr12:8857145 [GRCh38]
Chr12:9009741 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1081-355GGAA[5] microsatellite not provided [RCV002209431] Chr12:8841014..8841017 [GRCh38]
Chr12:8993610..8993613 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2120-14C>T single nucleotide variant not provided [RCV002192542] Chr12:8850146 [GRCh38]
Chr12:9002742 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.856-19T>C single nucleotide variant not provided [RCV002128886] Chr12:8838317 [GRCh38]
Chr12:8990913 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1081-352A>C single nucleotide variant not provided [RCV002111045] Chr12:8841017 [GRCh38]
Chr12:8993613 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1269C>T (p.Asp423=) single nucleotide variant not provided [RCV002189678] Chr12:8843154 [GRCh38]
Chr12:8995750 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.84A>T (p.Pro28=) single nucleotide variant not provided [RCV002167735] Chr12:8823203 [GRCh38]
Chr12:8975799 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2742C>T (p.His914=) single nucleotide variant not provided [RCV002206302] Chr12:8854809 [GRCh38]
Chr12:9007405 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4061+16G>T single nucleotide variant not provided [RCV002189980] Chr12:8868373 [GRCh38]
Chr12:9020969 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1689C>T (p.Ser563=) single nucleotide variant not provided [RCV002205525] Chr12:8847554 [GRCh38]
Chr12:9000150 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3717+17C>T single nucleotide variant not provided [RCV002192987] Chr12:8864025 [GRCh38]
Chr12:9016621 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1080+16T>C single nucleotide variant not provided [RCV002130410] Chr12:8839238 [GRCh38]
Chr12:8991834 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3340-14T>C single nucleotide variant not provided [RCV002111732] Chr12:8861121 [GRCh38]
Chr12:9013717 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3042G>A (p.Leu1014=) single nucleotide variant not provided [RCV002087429] Chr12:8857523 [GRCh38]
Chr12:9010119 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1770G>A (p.Ala590=) single nucleotide variant Inborn genetic diseases [RCV002400381]|not provided [RCV002186078] Chr12:8847635 [GRCh38]
Chr12:9000231 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1248+17G>T single nucleotide variant not provided [RCV002087935] Chr12:8841553 [GRCh38]
Chr12:8994149 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2268T>A (p.Val756=) single nucleotide variant not provided [RCV002129547] Chr12:8851817 [GRCh38]
Chr12:9004413 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4061+16G>A single nucleotide variant not provided [RCV002126430]|not specified [RCV003120832] Chr12:8868373 [GRCh38]
Chr12:9020969 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2765-16T>C single nucleotide variant not provided [RCV002185340] Chr12:8855493 [GRCh38]
Chr12:9008089 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1834-12C>A single nucleotide variant not provided [RCV002091991] Chr12:8848708 [GRCh38]
Chr12:9001304 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1476+15C>T single nucleotide variant not provided [RCV002105119]|not specified [RCV003230731] Chr12:8843376 [GRCh38]
Chr12:8995972 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1047T>C (p.Asn349=) single nucleotide variant not provided [RCV002105915] Chr12:8839189 [GRCh38]
Chr12:8991785 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4023G>A (p.Pro1341=) single nucleotide variant Inborn genetic diseases [RCV002372869]|not provided [RCV002212661] Chr12:8868319 [GRCh38]
Chr12:9020915 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.127C>T (p.Leu43=) single nucleotide variant Inborn genetic diseases [RCV003161550]|not provided [RCV002074512] Chr12:8823246 [GRCh38]
Chr12:8975842 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3718-13T>G single nucleotide variant not provided [RCV002080741] Chr12:8867829 [GRCh38]
Chr12:9020425 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3096T>C (p.Asn1032=) single nucleotide variant Inborn genetic diseases [RCV002324536]|not provided [RCV002192807] Chr12:8857577 [GRCh38]
Chr12:9010173 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2484A>G (p.Lys828=) single nucleotide variant Inborn genetic diseases [RCV002427581]|not provided [RCV002205491] Chr12:8852230 [GRCh38]
Chr12:9004826 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1770G>C (p.Ala590=) single nucleotide variant not provided [RCV002075298] Chr12:8847635 [GRCh38]
Chr12:9000231 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503-11T>C single nucleotide variant not provided [RCV002096978] Chr12:8863783 [GRCh38]
Chr12:9016379 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2862C>G (p.Gly954=) single nucleotide variant Inborn genetic diseases [RCV002434463]|not provided [RCV002215735] Chr12:8857177 [GRCh38]
Chr12:9009773 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2028+16C>T single nucleotide variant not provided [RCV002133148] Chr12:8848930 [GRCh38]
Chr12:9001526 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.810G>A (p.Val270=) single nucleotide variant not provided [RCV002107154] Chr12:8837521 [GRCh38]
Chr12:8990117 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1248+12C>T single nucleotide variant not provided [RCV002108479] Chr12:8841548 [GRCh38]
Chr12:8994144 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.288C>A (p.Ile96=) single nucleotide variant Inborn genetic diseases [RCV002434544]|not provided [RCV002130275] Chr12:8823761 [GRCh38]
Chr12:8976357 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1081-356C>A single nucleotide variant not provided [RCV002194313] Chr12:8841013 [GRCh38]
Chr12:8993609 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.201A>G (p.Glu67=) single nucleotide variant not provided [RCV002213156]|not specified [RCV003403681] Chr12:8823320 [GRCh38]
Chr12:8975916 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.63-14T>G single nucleotide variant not provided [RCV002115522] Chr12:8823168 [GRCh38]
Chr12:8975764 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1869C>T (p.Tyr623=) single nucleotide variant Inborn genetic diseases [RCV002407338]|not provided [RCV002172152] Chr12:8848755 [GRCh38]
Chr12:9001351 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4056C>T (p.His1352=) single nucleotide variant Inborn genetic diseases [RCV002324558]|not provided [RCV002080688] Chr12:8868352 [GRCh38]
Chr12:9020948 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.1476+19del deletion not provided [RCV002115821] Chr12:8843377 [GRCh38]
Chr12:8995973 [GRCh37]
Chr12:12p13.31		 benign
NM_144670.6(A2ML1):c.1191C>T (p.Gly397=) single nucleotide variant not provided [RCV002104374] Chr12:8841479 [GRCh38]
Chr12:8994075 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2849-10T>C single nucleotide variant not provided [RCV002149183] Chr12:8857154 [GRCh38]
Chr12:9009750 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2439C>T (p.Phe813=) single nucleotide variant not provided [RCV002149190] Chr12:8851988 [GRCh38]
Chr12:9004584 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503-20T>C single nucleotide variant not provided [RCV002071323] Chr12:8863774 [GRCh38]
Chr12:9016370 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.231T>C (p.His77=) single nucleotide variant not provided [RCV002167640] Chr12:8823350 [GRCh38]
Chr12:8975946 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1081-355GGAA[4] microsatellite not provided [RCV002196139] Chr12:8841014..8841021 [GRCh38]
Chr12:8993610..8993617 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2232T>C (p.Ile744=) single nucleotide variant not provided [RCV002131573] Chr12:8850272 [GRCh38]
Chr12:9002868 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2103C>T (p.Tyr701=) single nucleotide variant not provided [RCV002095621] Chr12:8849743 [GRCh38]
Chr12:9002339 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1395C>G (p.Gly465=) single nucleotide variant not provided [RCV002196768] Chr12:8843280 [GRCh38]
Chr12:8995876 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503-16G>T single nucleotide variant not provided [RCV002152003] Chr12:8863778 [GRCh38]
Chr12:9016374 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1287A>G (p.Glu429=) single nucleotide variant not provided [RCV002093259] Chr12:8843172 [GRCh38]
Chr12:8995768 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1881G>T (p.Val627=) single nucleotide variant not provided [RCV002173900] Chr12:8848767 [GRCh38]
Chr12:9001363 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1251A>G (p.Gly417=) single nucleotide variant not provided [RCV002134049] Chr12:8843136 [GRCh38]
Chr12:8995732 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.247-12T>C single nucleotide variant not provided [RCV002213685] Chr12:8823708 [GRCh38]
Chr12:8976304 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3933+10G>C single nucleotide variant not provided [RCV002103514] Chr12:8868067 [GRCh38]
Chr12:9020663 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.644-5T>C single nucleotide variant not provided [RCV002199577] Chr12:8836250 [GRCh38]
Chr12:8988846 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1081-356_1081-348delinsAGGAAGGACGGAC indel not provided [RCV002177560] Chr12:8841013..8841021 [GRCh38]
Chr12:8993609..8993617 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3108-8C>T single nucleotide variant not provided [RCV002158936] Chr12:8857938 [GRCh38]
Chr12:9010534 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3600A>G (p.Ala1200=) single nucleotide variant not provided [RCV002119347] Chr12:8863891 [GRCh38]
Chr12:9016487 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2820C>T (p.Asp940=) single nucleotide variant not provided [RCV002216724] Chr12:8855564 [GRCh38]
Chr12:9008160 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3940T>C (p.Leu1314=) single nucleotide variant not provided [RCV002160075] Chr12:8868236 [GRCh38]
Chr12:9020832 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1755C>T (p.Pro585=) single nucleotide variant Inborn genetic diseases [RCV002398245]|not provided [RCV002160097] Chr12:8847620 [GRCh38]
Chr12:9000216 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1684-11C>T single nucleotide variant not provided [RCV002156222] Chr12:8847538 [GRCh38]
Chr12:9000134 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1080+7T>C single nucleotide variant not provided [RCV002181404] Chr12:8839229 [GRCh38]
Chr12:8991825 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3108-6A>G single nucleotide variant not provided [RCV002135891] Chr12:8857940 [GRCh38]
Chr12:9010536 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.342A>C (p.Leu114=) single nucleotide variant not provided [RCV002154502] Chr12:8823815 [GRCh38]
Chr12:8976411 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1749A>G (p.Ala583=) single nucleotide variant not provided [RCV002200312] Chr12:8847614 [GRCh38]
Chr12:9000210 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3228T>C (p.Tyr1076=) single nucleotide variant not provided [RCV002217616] Chr12:8858066 [GRCh38]
Chr12:9010662 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1081-355GGAA[7] microsatellite not provided [RCV002217620] Chr12:8841013..8841014 [GRCh38]
Chr12:8993609..8993610 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1834-12C>T single nucleotide variant not provided [RCV002084385] Chr12:8848708 [GRCh38]
Chr12:9001304 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1428C>T (p.Ile476=) single nucleotide variant Inborn genetic diseases [RCV003382827]|not provided [RCV002157078] Chr12:8843313 [GRCh38]
Chr12:8995909 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2591-11C>A single nucleotide variant not provided [RCV002164395] Chr12:8854117 [GRCh38]
Chr12:9006713 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.240C>T (p.Ser80=) single nucleotide variant not provided [RCV002220721] Chr12:8823359 [GRCh38]
Chr12:8975955 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.540T>C (p.Ile180=) single nucleotide variant A2ML1-related condition [RCV003893260]|Inborn genetic diseases [RCV002346422]|not provided [RCV002100390]|not specified [RCV003155465] Chr12:8835563 [GRCh38]
Chr12:8988159 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.942T>C (p.Ile314=) single nucleotide variant Inborn genetic diseases [RCV002372925]|not provided [RCV002104036] Chr12:8838422 [GRCh38]
Chr12:8991018 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4325-9A>C single nucleotide variant not provided [RCV002219646] Chr12:8874962 [GRCh38]
Chr12:9027558 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1215A>T (p.Thr405=) single nucleotide variant not provided [RCV002159144] Chr12:8841503 [GRCh38]
Chr12:8994099 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3026-9del deletion not provided [RCV002138973] Chr12:8857497 [GRCh38]
Chr12:9010093 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3502+16T>G single nucleotide variant not provided [RCV002101975] Chr12:8861313 [GRCh38]
Chr12:9013909 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.975G>A (p.Val325=) single nucleotide variant not provided [RCV002137656] Chr12:8839117 [GRCh38]
Chr12:8991713 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1538-11T>C single nucleotide variant not provided [RCV002219751] Chr12:8846066 [GRCh38]
Chr12:8998662 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.882A>G (p.Ala294=) single nucleotide variant not provided [RCV002124281] Chr12:8838362 [GRCh38]
Chr12:8990958 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1068C>T (p.Pro356=) single nucleotide variant Inborn genetic diseases [RCV002409610]|not provided [RCV002184486] Chr12:8839210 [GRCh38]
Chr12:8991806 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.855+15G>A single nucleotide variant not provided [RCV002217998] Chr12:8837581 [GRCh38]
Chr12:8990177 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.411del (p.Tyr138fs) deletion not provided [RCV003110783] Chr12:8829728 [GRCh38]
Chr12:8982324 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1058C>T (p.Pro353Leu) single nucleotide variant Inborn genetic diseases [RCV003384354]|not provided [RCV003115215] Chr12:8839200 [GRCh38]
Chr12:8991796 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.728+8C>T single nucleotide variant not provided [RCV003114790] Chr12:8836347 [GRCh38]
Chr12:8988943 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2495A>G (p.Tyr832Cys) single nucleotide variant not provided [RCV003112651] Chr12:8852241 [GRCh38]
Chr12:9004837 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4305C>G (p.Val1435=) single nucleotide variant not provided [RCV003112652] Chr12:8874508 [GRCh38]
Chr12:9027104 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2134C>G (p.Pro712Ala) single nucleotide variant not provided [RCV003112794] Chr12:8850174 [GRCh38]
Chr12:9002770 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1825A>C (p.Asn609His) single nucleotide variant not provided [RCV003118671] Chr12:8847690 [GRCh38]
Chr12:9000286 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2881G>A (p.Asp961Asn) single nucleotide variant not provided [RCV003118672] Chr12:8857196 [GRCh38]
Chr12:9009792 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.904G>A (p.Asp302Asn) single nucleotide variant not provided [RCV003118809] Chr12:8838384 [GRCh38]
Chr12:8990980 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr) single nucleotide variant not provided [RCV003778675]|not specified [RCV003123548] Chr12:8861229 [GRCh38]
Chr12:9013825 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_8975248)_(8991838_?)del deletion not provided [RCV003123135] Chr12:8975248..8991838 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_8975248)_(8976498_?)del deletion not provided [RCV003123136] Chr12:8975248..8976498 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_9000125)_(9007447_?)del deletion not provided [RCV003123137] Chr12:9000125..9007447 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_8995710)_(9027607_?)dup duplication not provided [RCV003123138] Chr12:8995710..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2360T>C (p.Phe787Ser) single nucleotide variant not specified [RCV002246928] Chr12:8851909 [GRCh38]
Chr12:9004505 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.363C>T (p.Gly121=) single nucleotide variant Inborn genetic diseases [RCV002452413] Chr12:8823836 [GRCh38]
Chr12:8976432 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3398A>G (p.Asn1133Ser) single nucleotide variant Inborn genetic diseases [RCV002451966]|not provided [RCV003099451] Chr12:8861193 [GRCh38]
Chr12:9013789 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.2840C>A (p.Thr947Lys) single nucleotide variant Inborn genetic diseases [RCV002435245] Chr12:8855584 [GRCh38]
Chr12:9008180 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3723T>G (p.Thr1241=) single nucleotide variant Inborn genetic diseases [RCV002349117] Chr12:8867847 [GRCh38]
Chr12:9020443 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+19A>G single nucleotide variant not provided [RCV003560924]|not specified [RCV002282949] Chr12:8829798 [GRCh38]
Chr12:8982394 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.888G>A (p.Val296=) single nucleotide variant not specified [RCV003236331] Chr12:8838368 [GRCh38]
Chr12:8990964 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys) single nucleotide variant not specified [RCV003236333] Chr12:8822703 [GRCh38]
Chr12:8975299 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=) single nucleotide variant A2ML1-related condition [RCV003960984]|Inborn genetic diseases [RCV002454613]|not provided [RCV003096367]|not specified [RCV002281793] Chr12:8861176 [GRCh38]
Chr12:9013772 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser) single nucleotide variant not specified [RCV002281854] Chr12:8868563 [GRCh38]
Chr12:9021159 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3264+4C>T single nucleotide variant not provided [RCV003728065]|not specified [RCV002282950] Chr12:8858106 [GRCh38]
Chr12:9010702 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3619A>G (p.Lys1207Glu) single nucleotide variant Inborn genetic diseases [RCV002452276]|not provided [RCV003099621] Chr12:8863910 [GRCh38]
Chr12:9016506 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.799T>A (p.Tyr267Asn) single nucleotide variant Inborn genetic diseases [RCV002419129] Chr12:8837510 [GRCh38]
Chr12:8990106 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.623C>T (p.Thr208Ile) single nucleotide variant Inborn genetic diseases [RCV002366607]|not provided [RCV003098176] Chr12:8835646 [GRCh38]
Chr12:8988242 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2826C>T (p.Thr942=) single nucleotide variant Inborn genetic diseases [RCV002435033] Chr12:8855570 [GRCh38]
Chr12:9008166 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3660C>T (p.Ser1220=) single nucleotide variant Inborn genetic diseases [RCV002452563] Chr12:8863951 [GRCh38]
Chr12:9016547 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.811G>A (p.Glu271Lys) single nucleotide variant Inborn genetic diseases [RCV002421283] Chr12:8837522 [GRCh38]
Chr12:8990118 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3318G>A (p.Leu1106=) single nucleotide variant Inborn genetic diseases [RCV002454740] Chr12:8860934 [GRCh38]
Chr12:9013530 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2872C>A (p.Gln958Lys) single nucleotide variant Inborn genetic diseases [RCV002437689] Chr12:8857187 [GRCh38]
Chr12:9009783 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.714A>T (p.Val238=) single nucleotide variant Inborn genetic diseases [RCV002367518]|not provided [RCV003738219] Chr12:8836325 [GRCh38]
Chr12:8988921 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1962G>C (p.Ser654=) single nucleotide variant Inborn genetic diseases [RCV002421781] Chr12:8848848 [GRCh38]
Chr12:9001444 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1028C>T (p.Thr343Ile) single nucleotide variant Inborn genetic diseases [RCV002385883] Chr12:8839170 [GRCh38]
Chr12:8991766 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3366G>C (p.Arg1122=) single nucleotide variant Inborn genetic diseases [RCV002454797] Chr12:8861161 [GRCh38]
Chr12:9013757 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3026G>A (p.Gly1009Glu) single nucleotide variant Inborn genetic diseases [RCV002435936]|not provided [RCV003102984] Chr12:8857507 [GRCh38]
Chr12:9010103 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2247G>A (p.Lys749=) single nucleotide variant Inborn genetic diseases [RCV002420216] Chr12:8851796 [GRCh38]
Chr12:9004392 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.409+1G>A single nucleotide variant not provided [RCV003774841]|not specified [RCV002266163] Chr12:8823883 [GRCh38]
Chr12:8976479 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2903G>A (p.Ser968Asn) single nucleotide variant Inborn genetic diseases [RCV002438107]|not provided [RCV003679134] Chr12:8857218 [GRCh38]
Chr12:9009814 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3548C>T (p.Ala1183Val) single nucleotide variant Inborn genetic diseases [RCV002454836] Chr12:8863839 [GRCh38]
Chr12:9016435 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2688G>A (p.Thr896=) single nucleotide variant Inborn genetic diseases [RCV002437347] Chr12:8854225 [GRCh38]
Chr12:9006821 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.631G>A (p.Val211Met) single nucleotide variant Inborn genetic diseases [RCV002368863] Chr12:8835654 [GRCh38]
Chr12:8988250 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1228G>A (p.Gly410Arg) single nucleotide variant Inborn genetic diseases [RCV002367000]|not provided [RCV003098329] Chr12:8841516 [GRCh38]
Chr12:8994112 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1314C>T (p.Ala438=) single nucleotide variant Inborn genetic diseases [RCV002385524] Chr12:8843199 [GRCh38]
Chr12:8995795 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.637G>A (p.Glu213Lys) single nucleotide variant Inborn genetic diseases [RCV002369118] Chr12:8835660 [GRCh38]
Chr12:8988256 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2862C>T (p.Gly954=) single nucleotide variant Inborn genetic diseases [RCV002437598] Chr12:8857177 [GRCh38]
Chr12:9009773 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3335T>C (p.Val1112Ala) single nucleotide variant Inborn genetic diseases [RCV003305153] Chr12:8860951 [GRCh38]
Chr12:9013547 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4356C>T (p.Pro1452=) single nucleotide variant Inborn genetic diseases [RCV002332294] Chr12:8875002 [GRCh38]
Chr12:9027598 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3108-11T>C single nucleotide variant not provided [RCV003775005]|not specified [RCV002302595] Chr12:8857935 [GRCh38]
Chr12:9010531 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
GRCh37/hg19 12p13.31(chr12:8781515-9605163)x4 copy number gain not provided [RCV002472777] Chr12:8781515..9605163 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2120C>G (p.Ala707Gly) single nucleotide variant Inborn genetic diseases [RCV002417618] Chr12:8850160 [GRCh38]
Chr12:9002756 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2216G>T (p.Trp739Leu) single nucleotide variant Inborn genetic diseases [RCV002425936]|not provided [RCV003101132] Chr12:8850256 [GRCh38]
Chr12:9002852 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1434G>A (p.Pro478=) single nucleotide variant Inborn genetic diseases [RCV002392143]|not provided [RCV003095157] Chr12:8843319 [GRCh38]
Chr12:8995915 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_144670.6(A2ML1):c.2124C>T (p.Gly708=) single nucleotide variant Inborn genetic diseases [RCV002417666] Chr12:8850164 [GRCh38]
Chr12:9002760 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3603G>C (p.Leu1201Phe) single nucleotide variant Inborn genetic diseases [RCV002455245]|not provided [RCV003099613] Chr12:8863894 [GRCh38]
Chr12:9016490 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2057C>G (p.Ala686Gly) single nucleotide variant Inborn genetic diseases [RCV002421896] Chr12:8849697 [GRCh38]
Chr12:9002293 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3138C>T (p.Gly1046=) single nucleotide variant Inborn genetic diseases [RCV002320662] Chr12:8857976 [GRCh38]
Chr12:9010572 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2136A>G (p.Pro712=) single nucleotide variant Inborn genetic diseases [RCV002417851] Chr12:8850176 [GRCh38]
Chr12:9002772 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1154G>A (p.Gly385Glu) single nucleotide variant not provided [RCV002296126] Chr12:8841442 [GRCh38]
Chr12:8994038 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1577C>G (p.Ser526Trp) single nucleotide variant not provided [RCV002299522] Chr12:8846116 [GRCh38]
Chr12:8998712 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3046T>G (p.Tyr1016Asp) single nucleotide variant Inborn genetic diseases [RCV002444046] Chr12:8857527 [GRCh38]
Chr12:9010123 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3559T>G (p.Ser1187Ala) single nucleotide variant Inborn genetic diseases [RCV002339766]|not provided [RCV003099577] Chr12:8863850 [GRCh38]
Chr12:9016446 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2644G>A (p.Gly882Arg) single nucleotide variant Inborn genetic diseases [RCV002428647] Chr12:8854181 [GRCh38]
Chr12:9006777 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1363A>G (p.Ile455Val) single nucleotide variant Inborn genetic diseases [RCV002383538] Chr12:8843248 [GRCh38]
Chr12:8995844 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1998T>C (p.Ser666=) single nucleotide variant Inborn genetic diseases [RCV002417039] Chr12:8848884 [GRCh38]
Chr12:9001480 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2687C>T (p.Thr896Met) single nucleotide variant Inborn genetic diseases [RCV002428927]|not provided [RCV003102112] Chr12:8854224 [GRCh38]
Chr12:9006820 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1296A>G (p.Pro432=) single nucleotide variant Inborn genetic diseases [RCV002380645] Chr12:8843181 [GRCh38]
Chr12:8995777 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.702A>T (p.Glu234Asp) single nucleotide variant Inborn genetic diseases [RCV002364909] Chr12:8836313 [GRCh38]
Chr12:8988909 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.290G>A (p.Arg97Gln) single nucleotide variant Inborn genetic diseases [RCV002439816]|not provided [RCV003102866] Chr12:8823763 [GRCh38]
Chr12:8976359 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2487G>T (p.Ser829=) single nucleotide variant Inborn genetic diseases [RCV002430871] Chr12:8852233 [GRCh38]
Chr12:9004829 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1511A>G (p.Gln504Arg) single nucleotide variant Inborn genetic diseases [RCV002392210] Chr12:8845476 [GRCh38]
Chr12:8998072 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1443A>C (p.Ala481=) single nucleotide variant Inborn genetic diseases [RCV002394392] Chr12:8843328 [GRCh38]
Chr12:8995924 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2316G>C (p.Gln772His) single nucleotide variant Inborn genetic diseases [RCV002448059] Chr12:8851865 [GRCh38]
Chr12:9004461 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2515G>C (p.Asp839His) single nucleotide variant Inborn genetic diseases [RCV002432990] Chr12:8852261 [GRCh38]
Chr12:9004857 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3172A>G (p.Asn1058Asp) single nucleotide variant not provided [RCV002298304] Chr12:8858010 [GRCh38]
Chr12:9010606 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1216T>G (p.Ser406Ala) single nucleotide variant Inborn genetic diseases [RCV002360379] Chr12:8841504 [GRCh38]
Chr12:8994100 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1779G>A (p.Ala593=) single nucleotide variant Inborn genetic diseases [RCV002404035] Chr12:8847644 [GRCh38]
Chr12:9000240 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2617A>G (p.Lys873Glu) single nucleotide variant Inborn genetic diseases [RCV002426364] Chr12:8854154 [GRCh38]
Chr12:9006750 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3213C>T (p.Leu1071=) single nucleotide variant Inborn genetic diseases [RCV002324619] Chr12:8858051 [GRCh38]
Chr12:9010647 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1684G>T (p.Val562Phe) single nucleotide variant Inborn genetic diseases [RCV002406077] Chr12:8847549 [GRCh38]
Chr12:9000145 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1735C>T (p.Leu579=) single nucleotide variant Inborn genetic diseases [RCV002407448] Chr12:8847600 [GRCh38]
Chr12:9000196 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1395C>T (p.Gly465=) single nucleotide variant Inborn genetic diseases [RCV002389094]|not provided [RCV003561006] Chr12:8843280 [GRCh38]
Chr12:8995876 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1095C>T (p.Gly365=) single nucleotide variant Inborn genetic diseases [RCV002457840]|not provided [RCV003561032] Chr12:8841383 [GRCh38]
Chr12:8993979 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1436C>A (p.Ala479Asp) single nucleotide variant Inborn genetic diseases [RCV002394280] Chr12:8843321 [GRCh38]
Chr12:8995917 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1194A>G (p.Leu398=) single nucleotide variant Inborn genetic diseases [RCV002338183] Chr12:8841482 [GRCh38]
Chr12:8994078 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.279G>T (p.Val93=) single nucleotide variant Inborn genetic diseases [RCV002441519] Chr12:8823752 [GRCh38]
Chr12:8976348 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1356C>T (p.Phe452=) single nucleotide variant Inborn genetic diseases [RCV002383359] Chr12:8843241 [GRCh38]
Chr12:8995837 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1276T>C (p.Tyr426His) single nucleotide variant Inborn genetic diseases [RCV002450103] Chr12:8843161 [GRCh38]
Chr12:8995757 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1634T>A (p.Val545Asp) single nucleotide variant Inborn genetic diseases [RCV002401349] Chr12:8846173 [GRCh38]
Chr12:8998769 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.892A>T (p.Met298Leu) single nucleotide variant Inborn genetic diseases [RCV002449867]|not provided [RCV003103542] Chr12:8838372 [GRCh38]
Chr12:8990968 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1591G>A (p.Asp531Asn) single nucleotide variant Inborn genetic diseases [RCV002398443] Chr12:8846130 [GRCh38]
Chr12:8998726 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1506G>A (p.Glu502=) single nucleotide variant Inborn genetic diseases [RCV002390010]|not provided [RCV003708673] Chr12:8845471 [GRCh38]
Chr12:8998067 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3186T>C (p.Ala1062=) single nucleotide variant Inborn genetic diseases [RCV002322800] Chr12:8858024 [GRCh38]
Chr12:9010620 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3987T>C (p.Leu1329=) single nucleotide variant Inborn genetic diseases [RCV002357763] Chr12:8868283 [GRCh38]
Chr12:9020879 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4075C>A (p.Arg1359Ser) single nucleotide variant Inborn genetic diseases [RCV002323069] Chr12:8868550 [GRCh38]
Chr12:9021146 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1625G>A (p.Ser542Asn) single nucleotide variant Inborn genetic diseases [RCV002401142] Chr12:8846164 [GRCh38]
Chr12:8998760 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3621G>C (p.Lys1207Asn) single nucleotide variant not provided [RCV002297891] Chr12:8863912 [GRCh38]
Chr12:9016508 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1163A>G (p.Asn388Ser) single nucleotide variant Inborn genetic diseases [RCV002321375] Chr12:8841451 [GRCh38]
Chr12:8994047 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.844C>T (p.Leu282Phe) single nucleotide variant Inborn genetic diseases [RCV002447530]|not provided [RCV003574940] Chr12:8837555 [GRCh38]
Chr12:8990151 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3218G>C (p.Ser1073Thr) single nucleotide variant Inborn genetic diseases [RCV002445448] Chr12:8858056 [GRCh38]
Chr12:9010652 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3849A>T (p.Arg1283Ser) single nucleotide variant Inborn genetic diseases [RCV002355463] Chr12:8867973 [GRCh38]
Chr12:9020569 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.390C>G (p.Leu130=) single nucleotide variant Inborn genetic diseases [RCV002357502] Chr12:8823863 [GRCh38]
Chr12:8976459 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3668C>T (p.Ala1223Val) single nucleotide variant not provided [RCV002296853] Chr12:8863959 [GRCh38]
Chr12:9016555 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.597A>G (p.Ala199=) single nucleotide variant Inborn genetic diseases [RCV002356113] Chr12:8835620 [GRCh38]
Chr12:8988216 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3286T>C (p.Ser1096Pro) single nucleotide variant Inborn genetic diseases [RCV002445803] Chr12:8860902 [GRCh38]
Chr12:9013498 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4281C>T (p.Asn1427=) single nucleotide variant Inborn genetic diseases [RCV002330127] Chr12:8874484 [GRCh38]
Chr12:9027080 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3405C>T (p.Tyr1135=) single nucleotide variant Inborn genetic diseases [RCV002460190]|not provided [RCV003099462] Chr12:8861200 [GRCh38]
Chr12:9013796 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.523G>A (p.Val175Ile) single nucleotide variant Inborn genetic diseases [RCV002340893] Chr12:8835546 [GRCh38]
Chr12:8988142 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4166C>G (p.Pro1389Arg) single nucleotide variant Inborn genetic diseases [RCV002333353] Chr12:8869148 [GRCh38]
Chr12:9021744 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.601G>T (p.Ala201Ser) single nucleotide variant Inborn genetic diseases [RCV002358112]|not provided [RCV003776203] Chr12:8835624 [GRCh38]
Chr12:8988220 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.701A>G (p.Glu234Gly) single nucleotide variant Inborn genetic diseases [RCV002364852] Chr12:8836312 [GRCh38]
Chr12:8988908 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1179T>C (p.Thr393=) single nucleotide variant Inborn genetic diseases [RCV002342194]|not provided [RCV003102599] Chr12:8841467 [GRCh38]
Chr12:8994063 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1872C>A (p.Pro624=) single nucleotide variant Inborn genetic diseases [RCV002415121] Chr12:8848758 [GRCh38]
Chr12:9001354 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1275A>T (p.Val425=) single nucleotide variant Inborn genetic diseases [RCV002371389] Chr12:8843160 [GRCh38]
Chr12:8995756 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1662C>T (p.Val554=) single nucleotide variant A2ML1-related condition [RCV003903698]|Inborn genetic diseases [RCV002403849]|not specified [RCV003403814] Chr12:8846201 [GRCh38]
Chr12:8998797 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4167C>T (p.Pro1389=) single nucleotide variant Inborn genetic diseases [RCV002333356] Chr12:8869149 [GRCh38]
Chr12:9021745 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1992G>T (p.Ser664=) single nucleotide variant Inborn genetic diseases [RCV002423871] Chr12:8848878 [GRCh38]
Chr12:9001474 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4248C>A (p.Thr1416=) single nucleotide variant Inborn genetic diseases [RCV002329819] Chr12:8874451 [GRCh38]
Chr12:9027047 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2368T>C (p.Phe790Leu) single nucleotide variant Inborn genetic diseases [RCV002457747] Chr12:8851917 [GRCh38]
Chr12:9004513 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2796G>C (p.Glu932Asp) single nucleotide variant Inborn genetic diseases [RCV002441469]|not provided [RCV003102225] Chr12:8855540 [GRCh38]
Chr12:9008136 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3109C>T (p.Leu1037=) single nucleotide variant Inborn genetic diseases [RCV002326056] Chr12:8857947 [GRCh38]
Chr12:9010543 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4208T>C (p.Ile1403Thr) single nucleotide variant Inborn genetic diseases [RCV002327914] Chr12:8869190 [GRCh38]
Chr12:9021786 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1767T>C (p.Cys589=) single nucleotide variant Inborn genetic diseases [RCV002401761] Chr12:8847632 [GRCh38]
Chr12:9000228 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3322A>T (p.Met1108Leu) single nucleotide variant Inborn genetic diseases [RCV002326393]|not provided [RCV003099398] Chr12:8860938 [GRCh38]
Chr12:9013534 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.737A>G (p.Tyr246Cys) single nucleotide variant Inborn genetic diseases [RCV002380392]|not provided [RCV003103394] Chr12:8837448 [GRCh38]
Chr12:8990044 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.840G>A (p.Arg280=) single nucleotide variant Inborn genetic diseases [RCV002412604] Chr12:8837551 [GRCh38]
Chr12:8990147 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2638C>T (p.Pro880Ser) single nucleotide variant Inborn genetic diseases [RCV002428610] Chr12:8854175 [GRCh38]
Chr12:9006771 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.967A>T (p.Thr323Ser) single nucleotide variant Inborn genetic diseases [RCV002376549]|not provided [RCV003094853] Chr12:8838447 [GRCh38]
Chr12:8991043 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4211A>G (p.Tyr1404Cys) single nucleotide variant Inborn genetic diseases [RCV002327968] Chr12:8869193 [GRCh38]
Chr12:9021789 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.110A>G (p.Gln37Arg) single nucleotide variant Inborn genetic diseases [RCV002428873] Chr12:8823229 [GRCh38]
Chr12:8975825 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4234A>T (p.Thr1412Ser) single nucleotide variant Inborn genetic diseases [RCV002328143] Chr12:8874437 [GRCh38]
Chr12:9027033 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn) single nucleotide variant Inborn genetic diseases [RCV002391878]|not specified [RCV003388115] Chr12:8843308 [GRCh38]
Chr12:8995904 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.26T>C (p.Met9Thr) single nucleotide variant Inborn genetic diseases [RCV002428997]|not provided [RCV003102119] Chr12:8822677 [GRCh38]
Chr12:8975273 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2165A>G (p.His722Arg) single nucleotide variant Inborn genetic diseases [RCV002432640] Chr12:8850205 [GRCh38]
Chr12:9002801 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.257C>T (p.Pro86Leu) single nucleotide variant Inborn genetic diseases [RCV002426055]|not provided [RCV003561037] Chr12:8823730 [GRCh38]
Chr12:8976326 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.360C>T (p.Asn120=) single nucleotide variant Inborn genetic diseases [RCV002455311]|not provided [RCV003099617] Chr12:8823833 [GRCh38]
Chr12:8976429 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3127A>C (p.Lys1043Gln) single nucleotide variant Inborn genetic diseases [RCV002320537] Chr12:8857965 [GRCh38]
Chr12:9010561 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.764A>C (p.Gln255Pro) single nucleotide variant A2ML1-related condition [RCV003418479]|Inborn genetic diseases [RCV002396382]|not provided [RCV003103425] Chr12:8837475 [GRCh38]
Chr12:8990071 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1379G>A (p.Gly460Asp) single nucleotide variant Inborn genetic diseases [RCV002381114] Chr12:8843264 [GRCh38]
Chr12:8995860 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2283C>T (p.Thr761=) single nucleotide variant Inborn genetic diseases [RCV002446119] Chr12:8851832 [GRCh38]
Chr12:9004428 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.564A>G (p.Ala188=) single nucleotide variant Inborn genetic diseases [RCV002345156]|not provided [RCV003738209] Chr12:8835587 [GRCh38]
Chr12:8988183 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2430C>T (p.Ala810=) single nucleotide variant Inborn genetic diseases [RCV002459886]|not provided [RCV003101809] Chr12:8851979 [GRCh38]
Chr12:9004575 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1550C>T (p.Ser517Phe) single nucleotide variant Inborn genetic diseases [RCV002403368] Chr12:8846089 [GRCh38]
Chr12:8998685 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.69C>T (p.Tyr23=) single nucleotide variant Inborn genetic diseases [RCV002378218] Chr12:8823188 [GRCh38]
Chr12:8975784 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2756G>T (p.Cys919Phe) single nucleotide variant Inborn genetic diseases [RCV002439421] Chr12:8854823 [GRCh38]
Chr12:9007419 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.470T>C (p.Met157Thr) single nucleotide variant Inborn genetic diseases [RCV002335342]|not provided [RCV003565527] Chr12:8834669 [GRCh38]
Chr12:8987265 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4143C>T (p.Thr1381=) single nucleotide variant Inborn genetic diseases [RCV002333159] Chr12:8868618 [GRCh38]
Chr12:9021214 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3466C>T (p.Leu1156Phe) single nucleotide variant Inborn genetic diseases [RCV002460241]|not provided [RCV003099502] Chr12:8861261 [GRCh38]
Chr12:9013857 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4309G>A (p.Asp1437Asn) single nucleotide variant Inborn genetic diseases [RCV002331938]|not provided [RCV003775865] Chr12:8874512 [GRCh38]
Chr12:9027108 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1828C>T (p.Arg610Cys) single nucleotide variant Inborn genetic diseases [RCV002410475]|not provided [RCV003097281] Chr12:8847693 [GRCh38]
Chr12:9000289 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.868G>C (p.Gly290Arg) single nucleotide variant not provided [RCV002295164] Chr12:8838348 [GRCh38]
Chr12:8990944 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2758C>G (p.Pro920Ala) single nucleotide variant Inborn genetic diseases [RCV002439441]|not provided [RCV003730227] Chr12:8854825 [GRCh38]
Chr12:9007421 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4206C>T (p.Asn1402=) single nucleotide variant Inborn genetic diseases [RCV002327899] Chr12:8869188 [GRCh38]
Chr12:9021784 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2775A>T (p.Ala925=) single nucleotide variant Inborn genetic diseases [RCV002439657] Chr12:8855519 [GRCh38]
Chr12:9008115 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1163A>C (p.Asn388Thr) single nucleotide variant Inborn genetic diseases [RCV002321353]|not provided [RCV003102512] Chr12:8841451 [GRCh38]
Chr12:8994047 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3358G>A (p.Gly1120Ser) single nucleotide variant Inborn genetic diseases [RCV002321035] Chr12:8861153 [GRCh38]
Chr12:9013749 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.251C>T (p.Pro84Leu) single nucleotide variant Inborn genetic diseases [RCV002433029] Chr12:8823724 [GRCh38]
Chr12:8976320 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.644-2A>T single nucleotide variant not provided [RCV002815196] Chr12:8836253 [GRCh38]
Chr12:8988849 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.856-15T>C single nucleotide variant not provided [RCV002858273] Chr12:8838321 [GRCh38]
Chr12:8990917 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.129G>C (p.Leu43=) single nucleotide variant not provided [RCV003074388] Chr12:8823248 [GRCh38]
Chr12:8975844 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1679A>G (p.Asn560Ser) single nucleotide variant Inborn genetic diseases [RCV002901725]|not provided [RCV003777916] Chr12:8846218 [GRCh38]
Chr12:8998814 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1769C>A (p.Ala590Glu) single nucleotide variant not provided [RCV002904312] Chr12:8847634 [GRCh38]
Chr12:9000230 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.148G>T (p.Val50Phe) single nucleotide variant Inborn genetic diseases [RCV002731657] Chr12:8823267 [GRCh38]
Chr12:8975863 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2017A>G (p.Ser673Gly) single nucleotide variant Inborn genetic diseases [RCV002817883] Chr12:8848903 [GRCh38]
Chr12:9001499 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4061+15G>A single nucleotide variant not provided [RCV002881599] Chr12:8868372 [GRCh38]
Chr12:9020968 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1537+7G>A single nucleotide variant not provided [RCV002881304] Chr12:8845509 [GRCh38]
Chr12:8998105 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1604T>C (p.Val535Ala) single nucleotide variant Inborn genetic diseases [RCV002772640] Chr12:8846143 [GRCh38]
Chr12:8998739 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.52GAA[1] (p.Glu19del) microsatellite not provided [RCV002908296] Chr12:8822702..8822704 [GRCh38]
Chr12:8975298..8975300 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2769G>A (p.Lys923=) single nucleotide variant not provided [RCV002907998] Chr12:8855513 [GRCh38]
Chr12:9008109 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_144670.6(A2ML1):c.3150del (p.Lys1050fs) deletion not provided [RCV003076992] Chr12:8857986 [GRCh38]
Chr12:9010582 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3909A>G (p.Ser1303=) single nucleotide variant Inborn genetic diseases [RCV003382944]|not provided [RCV002837725] Chr12:8868033 [GRCh38]
Chr12:9020629 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3701del (p.Gly1234fs) deletion not provided [RCV002481209] Chr12:8863988 [GRCh38]
Chr12:9016584 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2120-19G>A single nucleotide variant not provided [RCV002947653] Chr12:8850141 [GRCh38]
Chr12:9002737 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.88C>T (p.Arg30Trp) single nucleotide variant Inborn genetic diseases [RCV003167910]|not provided [RCV002908595] Chr12:8823207 [GRCh38]
Chr12:8975803 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.74T>C (p.Val25Ala) single nucleotide variant not provided [RCV003014505] Chr12:8823193 [GRCh38]
Chr12:8975789 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.581G>A (p.Gly194Asp) single nucleotide variant not provided [RCV002996592] Chr12:8835604 [GRCh38]
Chr12:8988200 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2753T>G (p.Leu918Arg) single nucleotide variant Inborn genetic diseases [RCV002883887] Chr12:8854820 [GRCh38]
Chr12:9007416 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.36A>G (p.Leu12=) single nucleotide variant not provided [RCV002995628] Chr12:8822687 [GRCh38]
Chr12:8975283 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.728+17G>C single nucleotide variant not provided [RCV002616101] Chr12:8836356 [GRCh38]
Chr12:8988952 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2834A>G (p.Tyr945Cys) single nucleotide variant not provided [RCV002996229] Chr12:8855578 [GRCh38]
Chr12:9008174 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3757A>T (p.Thr1253Ser) single nucleotide variant not provided [RCV003095364] Chr12:8867881 [GRCh38]
Chr12:9020477 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2217G>C (p.Trp739Cys) single nucleotide variant Inborn genetic diseases [RCV002776942]|not provided [RCV003698984] Chr12:8850257 [GRCh38]
Chr12:9002853 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2119+22_2119+23del microsatellite not provided [RCV002971227] Chr12:8849779..8849780 [GRCh38]
Chr12:9002375..9002376 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2211G>T (p.Trp737Cys) single nucleotide variant Inborn genetic diseases [RCV002732359] Chr12:8850251 [GRCh38]
Chr12:9002847 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3725T>C (p.Val1242Ala) single nucleotide variant Inborn genetic diseases [RCV002753990]|not provided [RCV003679159] Chr12:8867849 [GRCh38]
Chr12:9020445 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2162T>A (p.Leu721Ter) single nucleotide variant not provided [RCV003034362] Chr12:8850202 [GRCh38]
Chr12:9002798 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.250C>G (p.Pro84Ala) single nucleotide variant not provided [RCV002908834] Chr12:8823723 [GRCh38]
Chr12:8976319 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3108-17C>T single nucleotide variant not provided [RCV003097616] Chr12:8857929 [GRCh38]
Chr12:9010525 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.68dup (p.Tyr23Ter) duplication not provided [RCV002994292] Chr12:8823186..8823187 [GRCh38]
Chr12:8975782..8975783 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3934-15A>G single nucleotide variant not provided [RCV003075293] Chr12:8868215 [GRCh38]
Chr12:9020811 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.902T>C (p.Phe301Ser) single nucleotide variant not provided [RCV002971740] Chr12:8838382 [GRCh38]
Chr12:8990978 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.833A>G (p.Lys278Arg) single nucleotide variant Inborn genetic diseases [RCV002907370] Chr12:8837544 [GRCh38]
Chr12:8990140 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1628G>A (p.Gly543Glu) single nucleotide variant Inborn genetic diseases [RCV002777649] Chr12:8846167 [GRCh38]
Chr12:8998763 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3454A>G (p.Ile1152Val) single nucleotide variant not provided [RCV003034783] Chr12:8861249 [GRCh38]
Chr12:9013845 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1526_1527insCTTA (p.Lys510fs) insertion not provided [RCV002995400] Chr12:8845491..8845492 [GRCh38]
Chr12:8998087..8998088 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4325-9A>G single nucleotide variant not provided [RCV002908364] Chr12:8874962 [GRCh38]
Chr12:9027558 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2615C>T (p.Thr872Ile) single nucleotide variant not provided [RCV002616387] Chr12:8854152 [GRCh38]
Chr12:9006748 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.983A>G (p.Asn328Ser) single nucleotide variant Inborn genetic diseases [RCV003167657]|not provided [RCV002696286] Chr12:8839125 [GRCh38]
Chr12:8991721 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.247-3C>G single nucleotide variant not provided [RCV003055719] Chr12:8823717 [GRCh38]
Chr12:8976313 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3314T>C (p.Leu1105Ser) single nucleotide variant Inborn genetic diseases [RCV002887365] Chr12:8860930 [GRCh38]
Chr12:9013526 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3264+7A>C single nucleotide variant not provided [RCV003100246] Chr12:8858109 [GRCh38]
Chr12:9010705 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3830A>G (p.Asn1277Ser) single nucleotide variant not provided [RCV002640648] Chr12:8867954 [GRCh38]
Chr12:9020550 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4199C>T (p.Thr1400Ile) single nucleotide variant Inborn genetic diseases [RCV002910655] Chr12:8869181 [GRCh38]
Chr12:9021777 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3919T>C (p.Cys1307Arg) single nucleotide variant not provided [RCV002825463] Chr12:8868043 [GRCh38]
Chr12:9020639 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1833+5G>A single nucleotide variant not provided [RCV002694771] Chr12:8847703 [GRCh38]
Chr12:9000299 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.431T>C (p.Met144Thr) single nucleotide variant Inborn genetic diseases [RCV002975840]|not provided [RCV002975839] Chr12:8829748 [GRCh38]
Chr12:8982344 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2728G>A (p.Val910Met) single nucleotide variant not provided [RCV003053634] Chr12:8854795 [GRCh38]
Chr12:9007391 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.635A>G (p.Glu212Gly) single nucleotide variant not provided [RCV003018719] Chr12:8835658 [GRCh38]
Chr12:8988254 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1598C>A (p.Ser533Tyr) single nucleotide variant not provided [RCV003053995] Chr12:8846137 [GRCh38]
Chr12:8998733 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2069A>C (p.Lys690Thr) single nucleotide variant not provided [RCV002705814] Chr12:8849709 [GRCh38]
Chr12:9002305 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2150C>G (p.Ser717Ter) single nucleotide variant not provided [RCV002734947] Chr12:8850190 [GRCh38]
Chr12:9002786 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2083A>C (p.Ser695Arg) single nucleotide variant not provided [RCV002909908] Chr12:8849723 [GRCh38]
Chr12:9002319 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.743A>G (p.Lys248Arg) single nucleotide variant not provided [RCV002780613] Chr12:8837454 [GRCh38]
Chr12:8990050 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1765T>C (p.Cys589Arg) single nucleotide variant not provided [RCV002923729] Chr12:8847630 [GRCh38]
Chr12:9000226 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1537+16T>C single nucleotide variant not provided [RCV002620660] Chr12:8845518 [GRCh38]
Chr12:8998114 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.747C>T (p.Pro249=) single nucleotide variant not provided [RCV003019912] Chr12:8837458 [GRCh38]
Chr12:8990054 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2028+14C>T single nucleotide variant not provided [RCV002927170] Chr12:8848928 [GRCh38]
Chr12:9001524 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.582C>T (p.Gly194=) single nucleotide variant Inborn genetic diseases [RCV003384348]|not provided [RCV002637475] Chr12:8835605 [GRCh38]
Chr12:8988201 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2893C>T (p.Gln965Ter) single nucleotide variant not provided [RCV002927387] Chr12:8857208 [GRCh38]
Chr12:9009804 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3340-3T>G single nucleotide variant not provided [RCV002952902] Chr12:8861132 [GRCh38]
Chr12:9013728 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2463+7G>A single nucleotide variant not provided [RCV002867935] Chr12:8852019 [GRCh38]
Chr12:9004615 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4086C>T (p.Ser1362=) single nucleotide variant not provided [RCV002926739] Chr12:8868561 [GRCh38]
Chr12:9021157 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2234+2del deletion not provided [RCV002637378] Chr12:8850276 [GRCh38]
Chr12:9002872 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1833+12_1833+15del deletion not provided [RCV002927233] Chr12:8847707..8847710 [GRCh38]
Chr12:9000303..9000306 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=) single nucleotide variant Inborn genetic diseases [RCV003308137]|not provided [RCV003395486]|not specified [RCV002510328] Chr12:8861188 [GRCh38]
Chr12:9013784 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2419C>T (p.Arg807Cys) single nucleotide variant not provided [RCV002621654] Chr12:8851968 [GRCh38]
Chr12:9004564 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1019G>T (p.Gly340Val) single nucleotide variant not provided [RCV002953153] Chr12:8839161 [GRCh38]
Chr12:8991757 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1542G>C (p.Leu514=) single nucleotide variant not provided [RCV002795867] Chr12:8846081 [GRCh38]
Chr12:8998677 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4332G>C (p.Gln1444His) single nucleotide variant not provided [RCV002796713] Chr12:8874978 [GRCh38]
Chr12:9027574 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.62+1G>A single nucleotide variant not provided [RCV002909960] Chr12:8822714 [GRCh38]
Chr12:8975310 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.246+5G>A single nucleotide variant not provided [RCV002893880] Chr12:8823370 [GRCh38]
Chr12:8975966 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.492T>C (p.Asn164=) single nucleotide variant not provided [RCV002745879] Chr12:8835515 [GRCh38]
Chr12:8988111 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.69C>G (p.Tyr23Ter) single nucleotide variant not provided [RCV003025135] Chr12:8823188 [GRCh38]
Chr12:8975784 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2119+22_2119+32del deletion not provided [RCV002894100] Chr12:8849777..8849787 [GRCh38]
Chr12:9002373..9002383 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.964G>C (p.Gly322Arg) single nucleotide variant not provided [RCV003025713] Chr12:8838444 [GRCh38]
Chr12:8991040 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2628C>T (p.Asp876=) single nucleotide variant not provided [RCV002791091] Chr12:8854165 [GRCh38]
Chr12:9006761 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2018G>C (p.Ser673Thr) single nucleotide variant not provided [RCV002958634] Chr12:8848904 [GRCh38]
Chr12:9001500 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1978A>T (p.Ile660Phe) single nucleotide variant Inborn genetic diseases [RCV003170879]|not provided [RCV003023146] Chr12:8848864 [GRCh38]
Chr12:9001460 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.97T>G (p.Phe33Val) single nucleotide variant not provided [RCV002982954] Chr12:8823216 [GRCh38]
Chr12:8975812 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3422C>G (p.Ala1141Gly) single nucleotide variant not provided [RCV002958903] Chr12:8861217 [GRCh38]
Chr12:9013813 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.971-18T>A single nucleotide variant not provided [RCV002917613] Chr12:8839095 [GRCh38]
Chr12:8991691 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3384C>T (p.Ala1128=) single nucleotide variant not provided [RCV002928910] Chr12:8861179 [GRCh38]
Chr12:9013775 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1537+1G>A single nucleotide variant not provided [RCV002954084] Chr12:8845503 [GRCh38]
Chr12:8998099 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1193T>C (p.Leu398Pro) single nucleotide variant Inborn genetic diseases [RCV002874906] Chr12:8841481 [GRCh38]
Chr12:8994077 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3732T>A (p.Ala1244=) single nucleotide variant not provided [RCV002572375] Chr12:8867856 [GRCh38]
Chr12:9020452 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.61C>A (p.Pro21Thr) single nucleotide variant not provided [RCV002914991] Chr12:8822712 [GRCh38]
Chr12:8975308 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1782G>A (p.Val594=) single nucleotide variant not provided [RCV002574669] Chr12:8847647 [GRCh38]
Chr12:9000243 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1068del (p.Phe357fs) deletion not provided [RCV002872272] Chr12:8839207 [GRCh38]
Chr12:8991803 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.463-15G>C single nucleotide variant not provided [RCV003085587] Chr12:8834647 [GRCh38]
Chr12:8987243 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2120-20C>T single nucleotide variant not provided [RCV002700784] Chr12:8850140 [GRCh38]
Chr12:9002736 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1057C>T (p.Pro353Ser) single nucleotide variant Inborn genetic diseases [RCV003162068]|not provided [RCV002624955] Chr12:8839199 [GRCh38]
Chr12:8991795 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.679A>G (p.Lys227Glu) single nucleotide variant not provided [RCV002575423] Chr12:8836290 [GRCh38]
Chr12:8988886 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3768_3769inv (p.Met1257Val) inversion not provided [RCV002667429] Chr12:8867892..8867893 [GRCh38]
Chr12:9020488..9020489 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.729G>T (p.Arg243Ser) single nucleotide variant not provided [RCV002801337] Chr12:8837440 [GRCh38]
Chr12:8990036 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4254C>T (p.Thr1418=) single nucleotide variant not provided [RCV002667755] Chr12:8874457 [GRCh38]
Chr12:9027053 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1238T>A (p.Val413Asp) single nucleotide variant Inborn genetic diseases [RCV002645171]|not provided [RCV003546861] Chr12:8841526 [GRCh38]
Chr12:8994122 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4222-11C>G single nucleotide variant not provided [RCV002786322] Chr12:8874414 [GRCh38]
Chr12:9027010 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2866G>A (p.Ala956Thr) single nucleotide variant Inborn genetic diseases [RCV002892690]|not provided [RCV003738327] Chr12:8857181 [GRCh38]
Chr12:9009777 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.512G>A (p.Trp171Ter) single nucleotide variant not provided [RCV003058806] Chr12:8835535 [GRCh38]
Chr12:8988131 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.169G>A (p.Glu57Lys) single nucleotide variant not provided [RCV002626688] Chr12:8823288 [GRCh38]
Chr12:8975884 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.643+20G>A single nucleotide variant not provided [RCV003083599] Chr12:8835686 [GRCh38]
Chr12:8988282 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3025+20C>T single nucleotide variant not provided [RCV002890775] Chr12:8857360 [GRCh38]
Chr12:9009956 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1816G>C (p.Glu606Gln) single nucleotide variant not provided [RCV002626369] Chr12:8847681 [GRCh38]
Chr12:9000277 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2986GAG[1] (p.Glu997del) microsatellite not provided [RCV003085441] Chr12:8857300..8857302 [GRCh38]
Chr12:9009896..9009898 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1964G>C (p.Ser655Thr) single nucleotide variant not provided [RCV002595258] Chr12:8848850 [GRCh38]
Chr12:9001446 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1805G>C (p.Arg602Thr) single nucleotide variant not provided [RCV002802100] Chr12:8847670 [GRCh38]
Chr12:9000266 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4183G>T (p.Glu1395Ter) single nucleotide variant not provided [RCV002573941] Chr12:8869165 [GRCh38]
Chr12:9021761 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4358G>A (p.Cys1453Tyr) single nucleotide variant Inborn genetic diseases [RCV003377823]|not provided [RCV002982539] Chr12:8875004 [GRCh38]
Chr12:9027600 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2129G>A (p.Gly710Asp) single nucleotide variant not provided [RCV002900116] Chr12:8850169 [GRCh38]
Chr12:9002765 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2235-3C>T single nucleotide variant not provided [RCV003089883] Chr12:8851781 [GRCh38]
Chr12:9004377 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462+1G>T single nucleotide variant not provided [RCV002581828] Chr12:8829780 [GRCh38]
Chr12:8982376 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3107+11C>T single nucleotide variant not provided [RCV002630476] Chr12:8857599 [GRCh38]
Chr12:9010195 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3439G>A (p.Ala1147Thr) single nucleotide variant not provided [RCV003090426] Chr12:8861234 [GRCh38]
Chr12:9013830 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3523C>A (p.Gln1175Lys) single nucleotide variant not provided [RCV002602403] Chr12:8863814 [GRCh38]
Chr12:9016410 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.340C>G (p.Leu114Val) single nucleotide variant not provided [RCV002938275] Chr12:8823813 [GRCh38]
Chr12:8976409 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.97T>C (p.Phe33Leu) single nucleotide variant not provided [RCV003045386] Chr12:8823216 [GRCh38]
Chr12:8975812 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.225C>T (p.His75=) single nucleotide variant not provided [RCV002581683] Chr12:8823344 [GRCh38]
Chr12:8975940 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1589C>T (p.Pro530Leu) single nucleotide variant Inborn genetic diseases [RCV002832098] Chr12:8846128 [GRCh38]
Chr12:8998724 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1580G>C (p.Arg527Thr) single nucleotide variant Inborn genetic diseases [RCV002855828] Chr12:8846119 [GRCh38]
Chr12:8998715 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3754G>A (p.Ala1252Thr) single nucleotide variant not provided [RCV003087632] Chr12:8867878 [GRCh38]
Chr12:9020474 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2251G>A (p.Ala751Thr) single nucleotide variant not provided [RCV003062368] Chr12:8851800 [GRCh38]
Chr12:9004396 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1726G>C (p.Glu576Gln) single nucleotide variant not provided [RCV003088926] Chr12:8847591 [GRCh38]
Chr12:9000187 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4183G>A (p.Glu1395Lys) single nucleotide variant not provided [RCV003060732] Chr12:8869165 [GRCh38]
Chr12:9021761 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2644G>C (p.Gly882Arg) single nucleotide variant not provided [RCV002715308] Chr12:8854181 [GRCh38]
Chr12:9006777 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2623C>T (p.Leu875=) single nucleotide variant not provided [RCV003061104] Chr12:8854160 [GRCh38]
Chr12:9006756 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2607T>C (p.Thr869=) single nucleotide variant not provided [RCV002876916] Chr12:8854144 [GRCh38]
Chr12:9006740 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2601C>G (p.Asn867Lys) single nucleotide variant not provided [RCV003086346] Chr12:8854138 [GRCh38]
Chr12:9006734 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2590+1G>A single nucleotide variant not provided [RCV003064923] Chr12:8852337 [GRCh38]
Chr12:9004933 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr) single nucleotide variant not provided [RCV003086386]|not specified [RCV003317648] Chr12:8868267 [GRCh38]
Chr12:9020863 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.977A>G (p.Glu326Gly) single nucleotide variant not provided [RCV003061680] Chr12:8839119 [GRCh38]
Chr12:8991715 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1867T>G (p.Tyr623Asp) single nucleotide variant Inborn genetic diseases [RCV003382969]|not provided [RCV002922724] Chr12:8848753 [GRCh38]
Chr12:9001349 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3717+19C>T single nucleotide variant not provided [RCV002629454] Chr12:8864027 [GRCh38]
Chr12:9016623 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1182T>C (p.Asp394=) single nucleotide variant not provided [RCV003063013] Chr12:8841470 [GRCh38]
Chr12:8994066 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1636del (p.Val545_Val546insTer) deletion not provided [RCV002895611] Chr12:8846175 [GRCh38]
Chr12:8998771 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.697C>T (p.Gln233Ter) single nucleotide variant not provided [RCV002598765] Chr12:8836308 [GRCh38]
Chr12:8988904 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3534T>A (p.Thr1178=) single nucleotide variant not provided [RCV002933671] Chr12:8863825 [GRCh38]
Chr12:9016421 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2782T>C (p.Ser928Pro) single nucleotide variant not provided [RCV002988788] Chr12:8855526 [GRCh38]
Chr12:9008122 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4061+3G>A single nucleotide variant not provided [RCV003029749] Chr12:8868360 [GRCh38]
Chr12:9020956 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.272AAG[1] (p.Glu92del) microsatellite not provided [RCV003090297] Chr12:8823743..8823745 [GRCh38]
Chr12:8976339..8976341 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3832A>C (p.Ile1278Leu) single nucleotide variant not provided [RCV003088357] Chr12:8867956 [GRCh38]
Chr12:9020552 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1829G>A (p.Arg610His) single nucleotide variant not provided [RCV002962966] Chr12:8847694 [GRCh38]
Chr12:9000290 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.899C>T (p.Thr300Ile) single nucleotide variant not provided [RCV002676376] Chr12:8838379 [GRCh38]
Chr12:8990975 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3346A>T (p.Met1116Leu) single nucleotide variant not provided [RCV002647465] Chr12:8861141 [GRCh38]
Chr12:9013737 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2314C>T (p.Gln772Ter) single nucleotide variant not provided [RCV002647828] Chr12:8851863 [GRCh38]
Chr12:9004459 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.643+14T>C single nucleotide variant not provided [RCV003062625] Chr12:8835680 [GRCh38]
Chr12:8988276 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2764G>T (p.Gly922Ter) single nucleotide variant not provided [RCV002671102] Chr12:8854831 [GRCh38]
Chr12:9007427 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1349G>A (p.Arg450His) single nucleotide variant not provided [RCV002599183] Chr12:8843234 [GRCh38]
Chr12:8995830 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1095C>A (p.Gly365=) single nucleotide variant not provided [RCV003050266] Chr12:8841383 [GRCh38]
Chr12:8993979 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1248+13G>A single nucleotide variant not provided [RCV003067366] Chr12:8841549 [GRCh38]
Chr12:8994145 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2860G>T (p.Gly954Cys) single nucleotide variant not provided [RCV002814711] Chr12:8857175 [GRCh38]
Chr12:9009771 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.976G>A (p.Glu326Lys) single nucleotide variant not provided [RCV002653366] Chr12:8839118 [GRCh38]
Chr12:8991714 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1243C>G (p.Leu415Val) single nucleotide variant not provided [RCV002654597] Chr12:8841531 [GRCh38]
Chr12:8994127 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3025+3A>G single nucleotide variant not provided [RCV002634230] Chr12:8857343 [GRCh38]
Chr12:9009939 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3933+16T>C single nucleotide variant not provided [RCV003069142] Chr12:8868073 [GRCh38]
Chr12:9020669 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4296C>A (p.Thr1432=) single nucleotide variant not provided [RCV002635033] Chr12:8874499 [GRCh38]
Chr12:9027095 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3755C>T (p.Ala1252Val) single nucleotide variant not provided [RCV003050742] Chr12:8867879 [GRCh38]
Chr12:9020475 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4153-17del deletion not provided [RCV002608621] Chr12:8869118 [GRCh38]
Chr12:9021714 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3695A>G (p.Tyr1232Cys) single nucleotide variant not provided [RCV003051949] Chr12:8863986 [GRCh38]
Chr12:9016582 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3969T>C (p.Asn1323=) single nucleotide variant not provided [RCV003073371] Chr12:8868265 [GRCh38]
Chr12:9020861 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3303C>T (p.Val1101=) single nucleotide variant not provided [RCV002588381] Chr12:8860919 [GRCh38]
Chr12:9013515 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4218T>A (p.Asp1406Glu) single nucleotide variant not provided [RCV002942365] Chr12:8869200 [GRCh38]
Chr12:9021796 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1684-18T>C single nucleotide variant not provided [RCV002610923] Chr12:8847531 [GRCh38]
Chr12:9000127 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.393C>T (p.Tyr131=) single nucleotide variant not provided [RCV003068229] Chr12:8823866 [GRCh38]
Chr12:8976462 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3386C>T (p.Thr1129Ile) single nucleotide variant Inborn genetic diseases [RCV003167513]|not provided [RCV002609884] Chr12:8861181 [GRCh38]
Chr12:9013777 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2806G>A (p.Asp936Asn) single nucleotide variant not provided [RCV003070167] Chr12:8855550 [GRCh38]
Chr12:9008146 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=) single nucleotide variant not specified [RCV003155641] Chr12:8861242 [GRCh38]
Chr12:9013838 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=) single nucleotide variant not specified [RCV003155851] Chr12:8861257 [GRCh38]
Chr12:9013853 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu) single nucleotide variant not specified [RCV003155747] Chr12:8846195 [GRCh38]
Chr12:8998791 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.376A>G (p.Thr126Ala) single nucleotide variant Inborn genetic diseases [RCV003187050] Chr12:8823849 [GRCh38]
Chr12:8976445 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2344G>A (p.Val782Ile) single nucleotide variant A2ML1-related condition [RCV003420590]|Inborn genetic diseases [RCV003187051] Chr12:8851893 [GRCh38]
Chr12:9004489 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3577G>C (p.Asp1193His) single nucleotide variant Inborn genetic diseases [RCV003213739] Chr12:8863868 [GRCh38]
Chr12:9016464 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1691T>C (p.Leu564Pro) single nucleotide variant Inborn genetic diseases [RCV003213740] Chr12:8847556 [GRCh38]
Chr12:9000152 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.409+13T>C single nucleotide variant not specified [RCV003226885] Chr12:8823895 [GRCh38]
Chr12:8976491 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1499T>A (p.Val500Glu) single nucleotide variant Inborn genetic diseases [RCV003187046] Chr12:8845464 [GRCh38]
Chr12:8998060 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1326G>T (p.Leu442=) single nucleotide variant Inborn genetic diseases [RCV003187047] Chr12:8843211 [GRCh38]
Chr12:8995807 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.159G>T (p.Thr53=) single nucleotide variant Inborn genetic diseases [RCV003187048] Chr12:8823278 [GRCh38]
Chr12:8975874 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.721T>G (p.Cys241Gly) single nucleotide variant Inborn genetic diseases [RCV003187049] Chr12:8836332 [GRCh38]
Chr12:8988928 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4288C>T (p.Pro1430Ser) single nucleotide variant Inborn genetic diseases [RCV003187054] Chr12:8874491 [GRCh38]
Chr12:9027087 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2233G>T (p.Gly745Cys) single nucleotide variant Inborn genetic diseases [RCV003187055] Chr12:8850273 [GRCh38]
Chr12:9002869 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.992A>T (p.Gln331Leu) single nucleotide variant Inborn genetic diseases [RCV003187056] Chr12:8839134 [GRCh38]
Chr12:8991730 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2663T>A (p.Val888Asp) single nucleotide variant Inborn genetic diseases [RCV003187057]|not provided [RCV003730421] Chr12:8854200 [GRCh38]
Chr12:9006796 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1503G>A (p.Met501Ile) single nucleotide variant Inborn genetic diseases [RCV003187058] Chr12:8845468 [GRCh38]
Chr12:8998064 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2574C>G (p.Ile858Met) single nucleotide variant Inborn genetic diseases [RCV003187059] Chr12:8852320 [GRCh38]
Chr12:9004916 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4138G>A (p.Gly1380Ser) single nucleotide variant Inborn genetic diseases [RCV003187061] Chr12:8868613 [GRCh38]
Chr12:9021209 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2508A>G (p.Ser836=) single nucleotide variant Inborn genetic diseases [RCV003187062] Chr12:8852254 [GRCh38]
Chr12:9004850 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3183T>C (p.Asp1061=) single nucleotide variant Inborn genetic diseases [RCV003187063] Chr12:8858021 [GRCh38]
Chr12:9010617 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.133C>T (p.Pro45Ser) single nucleotide variant Inborn genetic diseases [RCV003187064] Chr12:8823252 [GRCh38]
Chr12:8975848 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3768C>T (p.Tyr1256=) single nucleotide variant Inborn genetic diseases [RCV003187065] Chr12:8867892 [GRCh38]
Chr12:9020488 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2537T>C (p.Leu846Pro) single nucleotide variant Inborn genetic diseases [RCV003171118] Chr12:8852283 [GRCh38]
Chr12:9004879 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2790C>T (p.Ser930=) single nucleotide variant Inborn genetic diseases [RCV003171119] Chr12:8855534 [GRCh38]
Chr12:9008130 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4058C>T (p.Thr1353Ile) single nucleotide variant Inborn genetic diseases [RCV003171120] Chr12:8868354 [GRCh38]
Chr12:9020950 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3493A>G (p.Ile1165Val) single nucleotide variant Inborn genetic diseases [RCV003171121] Chr12:8861288 [GRCh38]
Chr12:9013884 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1703C>T (p.Pro568Leu) single nucleotide variant Inborn genetic diseases [RCV003187043] Chr12:8847568 [GRCh38]
Chr12:9000164 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.55G>A (p.Glu19Lys) single nucleotide variant Inborn genetic diseases [RCV003187044] Chr12:8822706 [GRCh38]
Chr12:8975302 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2277C>T (p.Ala759=) single nucleotide variant Inborn genetic diseases [RCV003187052]|not provided [RCV003549003] Chr12:8851826 [GRCh38]
Chr12:9004422 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4207A>T (p.Ile1403Phe) single nucleotide variant Inborn genetic diseases [RCV003310627] Chr12:8869189 [GRCh38]
Chr12:9021785 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3065C>T (p.Ser1022Leu) single nucleotide variant Inborn genetic diseases [RCV003310628] Chr12:8857546 [GRCh38]
Chr12:9010142 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1309A>G (p.Asn437Asp) single nucleotide variant Inborn genetic diseases [RCV003310629]|not provided [RCV003491358] Chr12:8843194 [GRCh38]
Chr12:8995790 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1226A>T (p.Asn409Ile) single nucleotide variant Inborn genetic diseases [RCV003310630] Chr12:8841514 [GRCh38]
Chr12:8994110 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1483G>A (p.Gly495Arg) single nucleotide variant Inborn genetic diseases [RCV003310631] Chr12:8845448 [GRCh38]
Chr12:8998044 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.536G>A (p.Gly179Asp) single nucleotide variant Inborn genetic diseases [RCV003310634] Chr12:8835559 [GRCh38]
Chr12:8988155 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1578G>A (p.Ser526=) single nucleotide variant Inborn genetic diseases [RCV003310635] Chr12:8846117 [GRCh38]
Chr12:8998713 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3414C>T (p.Ala1138=) single nucleotide variant Inborn genetic diseases [RCV003310636]|not provided [RCV003720840] Chr12:8861209 [GRCh38]
Chr12:9013805 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1824C>T (p.Ser608=) single nucleotide variant Inborn genetic diseases [RCV003310637] Chr12:8847689 [GRCh38]
Chr12:9000285 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3707C>T (p.Ser1236Phe) single nucleotide variant Inborn genetic diseases [RCV003310638] Chr12:8863998 [GRCh38]
Chr12:9016594 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.127C>G (p.Leu43Val) single nucleotide variant Inborn genetic diseases [RCV003310639] Chr12:8823246 [GRCh38]
Chr12:8975842 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2490T>C (p.His830=) single nucleotide variant Inborn genetic diseases [RCV003310640] Chr12:8852236 [GRCh38]
Chr12:9004832 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3730G>T (p.Ala1244Ser) single nucleotide variant Inborn genetic diseases [RCV003310641] Chr12:8867854 [GRCh38]
Chr12:9020450 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2415C>G (p.Ser805=) single nucleotide variant Inborn genetic diseases [RCV003310642] Chr12:8851964 [GRCh38]
Chr12:9004560 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.871T>C (p.Cys291Arg) single nucleotide variant Inborn genetic diseases [RCV003310644] Chr12:8838351 [GRCh38]
Chr12:8990947 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu) single nucleotide variant not specified [RCV003331797] Chr12:8848841 [GRCh38]
Chr12:9001437 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2269C>T (p.Pro757Ser) single nucleotide variant Inborn genetic diseases [RCV003385790] Chr12:8851818 [GRCh38]
Chr12:9004414 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3763G>A (p.Ala1255Thr) single nucleotide variant Inborn genetic diseases [RCV003385791] Chr12:8867887 [GRCh38]
Chr12:9020483 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2312C>T (p.Ser771Phe) single nucleotide variant A2ML1-related condition [RCV003419066] Chr12:8851861 [GRCh38]
Chr12:9004457 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1700C>G (p.Ser567Cys) single nucleotide variant Inborn genetic diseases [RCV003375908] Chr12:8847565 [GRCh38]
Chr12:9000161 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1901C>T (p.Pro634Leu) single nucleotide variant Inborn genetic diseases [RCV003382042] Chr12:8848787 [GRCh38]
Chr12:9001383 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4295C>G (p.Thr1432Ser) single nucleotide variant Inborn genetic diseases [RCV003382034] Chr12:8874498 [GRCh38]
Chr12:9027094 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1394G>T (p.Gly465Val) single nucleotide variant Inborn genetic diseases [RCV003382035] Chr12:8843279 [GRCh38]
Chr12:8995875 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1051T>C (p.Tyr351His) single nucleotide variant Inborn genetic diseases [RCV003382037] Chr12:8839193 [GRCh38]
Chr12:8991789 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2049G>A (p.Leu683=) single nucleotide variant Inborn genetic diseases [RCV003382039] Chr12:8849689 [GRCh38]
Chr12:9002285 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3269G>T (p.Gly1090Val) single nucleotide variant Inborn genetic diseases [RCV003382036] Chr12:8860885 [GRCh38]
Chr12:9013481 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.565C>G (p.Pro189Ala) single nucleotide variant Inborn genetic diseases [RCV003382038] Chr12:8835588 [GRCh38]
Chr12:8988184 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2240C>T (p.Ser747Leu) single nucleotide variant Inborn genetic diseases [RCV003382040] Chr12:8851789 [GRCh38]
Chr12:9004385 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2985G>C (p.Thr995=) single nucleotide variant Inborn genetic diseases [RCV003382041] Chr12:8857300 [GRCh38]
Chr12:9009896 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3477G>A (p.Gln1159=) single nucleotide variant Inborn genetic diseases [RCV003382033] Chr12:8861272 [GRCh38]
Chr12:9013868 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4312T>C (p.Tyr1438His) single nucleotide variant not provided [RCV003569596] Chr12:8874515 [GRCh38]
Chr12:9027111 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3241A>G (p.Asn1081Asp) single nucleotide variant not provided [RCV003691956] Chr12:8858079 [GRCh38]
Chr12:9010675 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.247-6G>C single nucleotide variant not provided [RCV003570506] Chr12:8823714 [GRCh38]
Chr12:8976310 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2712+3G>A single nucleotide variant not provided [RCV003571504] Chr12:8854252 [GRCh38]
Chr12:9006848 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4065T>C (p.Tyr1355=) single nucleotide variant not provided [RCV003569884] Chr12:8868540 [GRCh38]
Chr12:9021136 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2234+5G>T single nucleotide variant not provided [RCV003570235] Chr12:8850279 [GRCh38]
Chr12:9002875 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4139G>T (p.Gly1380Val) single nucleotide variant not provided [RCV003570729] Chr12:8868614 [GRCh38]
Chr12:9021210 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1949C>G (p.Pro650Arg) single nucleotide variant not provided [RCV003489495] Chr12:8848835 [GRCh38]
Chr12:9001431 [GRCh37]
Chr12:12p13.31		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.2956C>T (p.Gln986Ter) single nucleotide variant not provided [RCV003390170] Chr12:8857271 [GRCh38]
Chr12:9009867 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys) single nucleotide variant not specified [RCV003388527] Chr12:8854783 [GRCh38]
Chr12:9007379 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3339+1G>T single nucleotide variant A2ML1-related condition [RCV003397666] Chr12:8860956 [GRCh38]
Chr12:9013552 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr) single nucleotide variant not specified [RCV003388386] Chr12:8851806 [GRCh38]
Chr12:9004402 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4049C>T (p.Thr1350Ile) single nucleotide variant A2ML1-related condition [RCV003410607]|not provided [RCV003553925] Chr12:8868345 [GRCh38]
Chr12:9020941 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2519C>A (p.Ser840Tyr) single nucleotide variant A2ML1-related condition [RCV003410726]|not provided [RCV003553928] Chr12:8852265 [GRCh38]
Chr12:9004861 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1577C>T (p.Ser526Leu) single nucleotide variant not provided [RCV003545712] Chr12:8846116 [GRCh38]
Chr12:8998712 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3625A>C (p.Ser1209Arg) single nucleotide variant not provided [RCV003573808] Chr12:8863916 [GRCh38]
Chr12:9016512 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2063T>C (p.Ile688Thr) single nucleotide variant not provided [RCV003739053] Chr12:8849703 [GRCh38]
Chr12:9002299 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3833T>C (p.Ile1278Thr) single nucleotide variant not provided [RCV003690855] Chr12:8867957 [GRCh38]
Chr12:9020553 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2029-3C>G single nucleotide variant not provided [RCV003579121] Chr12:8849666 [GRCh38]
Chr12:9002262 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2028+8T>C single nucleotide variant not provided [RCV003696543] Chr12:8848922 [GRCh38]
Chr12:9001518 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2724C>T (p.Val908=) single nucleotide variant not provided [RCV003740047] Chr12:8854791 [GRCh38]
Chr12:9007387 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2630_2633del (p.Ser877fs) deletion not provided [RCV003489496] Chr12:8854166..8854169 [GRCh38]
Chr12:9006762..9006765 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1476+1G>T single nucleotide variant not provided [RCV003489494] Chr12:8843362 [GRCh38]
Chr12:8995958 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1894C>T (p.Gln632Ter) single nucleotide variant not provided [RCV003577173] Chr12:8848780 [GRCh38]
Chr12:9001376 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3223T>C (p.Cys1075Arg) single nucleotide variant not provided [RCV003827566] Chr12:8858061 [GRCh38]
Chr12:9010657 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.971G>A (p.Gly324Asp) single nucleotide variant not provided [RCV003573273] Chr12:8839113 [GRCh38]
Chr12:8991709 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2899C>G (p.Pro967Ala) single nucleotide variant not provided [RCV003714065] Chr12:8857214 [GRCh38]
Chr12:9009810 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3917G>T (p.Gly1306Val) single nucleotide variant not provided [RCV003573353] Chr12:8868041 [GRCh38]
Chr12:9020637 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4003A>G (p.Lys1335Glu) single nucleotide variant not provided [RCV003878709] Chr12:8868299 [GRCh38]
Chr12:9020895 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.484-9A>G single nucleotide variant not provided [RCV003543995] Chr12:8835498 [GRCh38]
Chr12:8988094 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4171G>A (p.Val1391Met) single nucleotide variant not provided [RCV003689429] Chr12:8869153 [GRCh38]
Chr12:9021749 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2018G>A (p.Ser673Asn) single nucleotide variant not provided [RCV003576034] Chr12:8848904 [GRCh38]
Chr12:9001500 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.410-15C>G single nucleotide variant not provided [RCV003576049] Chr12:8829712 [GRCh38]
Chr12:8982308 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2373del (p.Phe791fs) deletion not provided [RCV003578313] Chr12:8851920 [GRCh38]
Chr12:9004516 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3678C>A (p.Ala1226=) single nucleotide variant not provided [RCV003578906] Chr12:8863969 [GRCh38]
Chr12:9016565 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.970+16C>T single nucleotide variant not provided [RCV003715646] Chr12:8838466 [GRCh38]
Chr12:8991062 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1427T>A (p.Ile476Asn) single nucleotide variant not provided [RCV003578017] Chr12:8843312 [GRCh38]
Chr12:8995908 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2191C>T (p.Gln731Ter) single nucleotide variant not provided [RCV003578718] Chr12:8850231 [GRCh38]
Chr12:9002827 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3623C>G (p.Pro1208Arg) single nucleotide variant not provided [RCV003831161] Chr12:8863914 [GRCh38]
Chr12:9016510 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1137G>A (p.Val379=) single nucleotide variant not provided [RCV003739586] Chr12:8841425 [GRCh38]
Chr12:8994021 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.313A>G (p.Ile105Val) single nucleotide variant not provided [RCV003489493] Chr12:8823786 [GRCh38]
Chr12:8976382 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3682C>T (p.Gln1228Ter) single nucleotide variant not provided [RCV003739849] Chr12:8863973 [GRCh38]
Chr12:9016569 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1476+1G>A single nucleotide variant not provided [RCV003879146] Chr12:8843362 [GRCh38]
Chr12:8995958 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4033C>G (p.Arg1345Gly) single nucleotide variant not provided [RCV003687050] Chr12:8868329 [GRCh38]
Chr12:9020925 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.792_793del (p.Tyr265fs) deletion not provided [RCV003489490] Chr12:8837503..8837504 [GRCh38]
Chr12:8990099..8990100 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1481T>C (p.Ile494Thr) single nucleotide variant not provided [RCV003489491] Chr12:8845446 [GRCh38]
Chr12:8998042 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3074C>T (p.Ala1025Val) single nucleotide variant not provided [RCV003489492] Chr12:8857555 [GRCh38]
Chr12:9010151 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3070A>C (p.Ser1024Arg) single nucleotide variant not provided [RCV003688285] Chr12:8857551 [GRCh38]
Chr12:9010147 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1372C>T (p.Leu458=) single nucleotide variant not provided [RCV003688422] Chr12:8843257 [GRCh38]
Chr12:8995853 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1128G>A (p.Val376=) single nucleotide variant not provided [RCV003879542] Chr12:8841416 [GRCh38]
Chr12:8994012 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2911G>T (p.Gly971Cys) single nucleotide variant not provided [RCV003693404] Chr12:8857226 [GRCh38]
Chr12:9009822 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1683+14G>A single nucleotide variant not provided [RCV003546252] Chr12:8846236 [GRCh38]
Chr12:8998832 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3025+9G>A single nucleotide variant not provided [RCV003849590] Chr12:8857349 [GRCh38]
Chr12:9009945 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3540A>G (p.Ser1180=) single nucleotide variant not provided [RCV003664618] Chr12:8863831 [GRCh38]
Chr12:9016427 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1415T>C (p.Val472Ala) single nucleotide variant not provided [RCV003832174] Chr12:8843300 [GRCh38]
Chr12:8995896 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3825A>T (p.Thr1275=) single nucleotide variant not provided [RCV003549337] Chr12:8867949 [GRCh38]
Chr12:9020545 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1941C>T (p.Asp647=) single nucleotide variant not provided [RCV003697169] Chr12:8848827 [GRCh38]
Chr12:9001423 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2848+19T>C single nucleotide variant not provided [RCV003664023] Chr12:8855611 [GRCh38]
Chr12:9008207 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3359G>A (p.Gly1120Asp) single nucleotide variant not provided [RCV003557883] Chr12:8861154 [GRCh38]
Chr12:9013750 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.296C>T (p.Ser99Leu) single nucleotide variant not provided [RCV003548547] Chr12:8823769 [GRCh38]
Chr12:8976365 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3334G>A (p.Val1112Ile) single nucleotide variant not provided [RCV003548100] Chr12:8860950 [GRCh38]
Chr12:9013546 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4062-20T>C single nucleotide variant not provided [RCV003717482] Chr12:8868517 [GRCh38]
Chr12:9021113 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3502+5G>A single nucleotide variant not provided [RCV003562121] Chr12:8861302 [GRCh38]
Chr12:9013898 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.924C>T (p.Tyr308=) single nucleotide variant not provided [RCV003579906] Chr12:8838404 [GRCh38]
Chr12:8991000 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3960T>G (p.Pro1320=) single nucleotide variant not provided [RCV003674125] Chr12:8868256 [GRCh38]
Chr12:9020852 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2152T>A (p.Ser718Thr) single nucleotide variant not provided [RCV003673978] Chr12:8850192 [GRCh38]
Chr12:9002788 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.508C>T (p.Gln170Ter) single nucleotide variant not provided [RCV003813889] Chr12:8835531 [GRCh38]
Chr12:8988127 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1369C>T (p.Arg457Trp) single nucleotide variant not provided [RCV003579922] Chr12:8843254 [GRCh38]
Chr12:8995850 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1781T>C (p.Val594Ala) single nucleotide variant not provided [RCV003667884] Chr12:8847646 [GRCh38]
Chr12:9000242 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2591-18C>T single nucleotide variant not provided [RCV003725286] Chr12:8854110 [GRCh38]
Chr12:9006706 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2029-19T>C single nucleotide variant not provided [RCV003838506] Chr12:8849650 [GRCh38]
Chr12:9002246 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3108-5T>C single nucleotide variant not provided [RCV003561460] Chr12:8857941 [GRCh38]
Chr12:9010537 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3058A>G (p.Asn1020Asp) single nucleotide variant not provided [RCV003561482] Chr12:8857539 [GRCh38]
Chr12:9010135 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2591-6T>C single nucleotide variant not provided [RCV003557928] Chr12:8854122 [GRCh38]
Chr12:9006718 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1391G>A (p.Cys464Tyr) single nucleotide variant not provided [RCV003856282] Chr12:8843276 [GRCh38]
Chr12:8995872 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1664A>G (p.Glu555Gly) single nucleotide variant not provided [RCV003674199] Chr12:8846203 [GRCh38]
Chr12:8998799 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.223C>A (p.His75Asn) single nucleotide variant not provided [RCV003838332] Chr12:8823342 [GRCh38]
Chr12:8975938 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.784G>A (p.Ala262Thr) single nucleotide variant not provided [RCV003559590] Chr12:8837495 [GRCh38]
Chr12:8990091 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.218A>G (p.Lys73Arg) single nucleotide variant not provided [RCV003664220] Chr12:8823337 [GRCh38]
Chr12:8975933 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1826A>G (p.Asn609Ser) single nucleotide variant not provided [RCV003724582] Chr12:8847691 [GRCh38]
Chr12:9000287 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1377C>A (p.Asn459Lys) single nucleotide variant not provided [RCV003701145] Chr12:8843262 [GRCh38]
Chr12:8995858 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3153C>A (p.Phe1051Leu) single nucleotide variant not provided [RCV003833969] Chr12:8857991 [GRCh38]
Chr12:9010587 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2180C>T (p.Ser727Phe) single nucleotide variant not provided [RCV003560635] Chr12:8850220 [GRCh38]
Chr12:9002816 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1758A>G (p.Gly586=) single nucleotide variant not provided [RCV003815987] Chr12:8847623 [GRCh38]
Chr12:9000219 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3503G>C (p.Gly1168Ala) single nucleotide variant not provided [RCV003814008] Chr12:8863794 [GRCh38]
Chr12:9016390 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2526C>G (p.Thr842=) single nucleotide variant not provided [RCV003707863] Chr12:8852272 [GRCh38]
Chr12:9004868 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.462+17A>C single nucleotide variant not provided [RCV003865935] Chr12:8829796 [GRCh38]
Chr12:8982392 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2764+1G>A single nucleotide variant not provided [RCV003731641] Chr12:8854832 [GRCh38]
Chr12:9007428 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.585C>G (p.Thr195=) single nucleotide variant not provided [RCV003730940] Chr12:8835608 [GRCh38]
Chr12:8988204 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2585A>T (p.Lys862Ile) single nucleotide variant not provided [RCV003730018] Chr12:8852331 [GRCh38]
Chr12:9004927 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.126C>T (p.Asp42=) single nucleotide variant not provided [RCV003681184] Chr12:8823245 [GRCh38]
Chr12:8975841 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1674T>G (p.Phe558Leu) single nucleotide variant not provided [RCV003711361] Chr12:8846213 [GRCh38]
Chr12:8998809 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1537+14C>A single nucleotide variant not provided [RCV003861458] Chr12:8845516 [GRCh38]
Chr12:8998112 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.941T>C (p.Ile314Thr) single nucleotide variant not provided [RCV003554531] Chr12:8838421 [GRCh38]
Chr12:8991017 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3762C>T (p.Thr1254=) single nucleotide variant not provided [RCV003551109] Chr12:8867886 [GRCh38]
Chr12:9020482 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2128G>A (p.Gly710Ser) single nucleotide variant not provided [RCV003556832] Chr12:8850168 [GRCh38]
Chr12:9002764 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.856-9C>A single nucleotide variant not provided [RCV003555636] Chr12:8838327 [GRCh38]
Chr12:8990923 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2234+12C>T single nucleotide variant not provided [RCV003854134] Chr12:8850286 [GRCh38]
Chr12:9002882 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1080+19C>G single nucleotide variant not provided [RCV003705824] Chr12:8839241 [GRCh38]
Chr12:8991837 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2009A>G (p.Asp670Gly) single nucleotide variant not provided [RCV003736076] Chr12:8848895 [GRCh38]
Chr12:9001491 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3203G>A (p.Gly1068Glu) single nucleotide variant not provided [RCV003728352] Chr12:8858041 [GRCh38]
Chr12:9010637 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3853G>T (p.Val1285Leu) single nucleotide variant not provided [RCV003863670] Chr12:8867977 [GRCh38]
Chr12:9020573 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1834-13C>A single nucleotide variant not provided [RCV003710958] Chr12:8848707 [GRCh38]
Chr12:9001303 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3417G>A (p.Leu1139=) single nucleotide variant not provided [RCV003710931] Chr12:8861212 [GRCh38]
Chr12:9013808 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3511A>G (p.Ile1171Val) single nucleotide variant not provided [RCV003557171] Chr12:8863802 [GRCh38]
Chr12:9016398 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1834-12C>G single nucleotide variant not provided [RCV003735020] Chr12:8848708 [GRCh38]
Chr12:9001304 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.744G>C (p.Lys248Asn) single nucleotide variant not provided [RCV003555655] Chr12:8837455 [GRCh38]
Chr12:8990051 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3718-19G>T single nucleotide variant not provided [RCV003722492] Chr12:8867823 [GRCh38]
Chr12:9020419 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr) single nucleotide variant not provided [RCV003731588] Chr12:8823262 [GRCh38]
Chr12:8975858 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3051A>G (p.Lys1017=) single nucleotide variant not provided [RCV003731686] Chr12:8857532 [GRCh38]
Chr12:9010128 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3673T>G (p.Leu1225Val) single nucleotide variant not provided [RCV003686047] Chr12:8863964 [GRCh38]
Chr12:9016560 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.860A>G (p.Asp287Gly) single nucleotide variant not provided [RCV003562555] Chr12:8838340 [GRCh38]
Chr12:8990936 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3427_3430dup (p.Phe1144fs) duplication not provided [RCV003737447] Chr12:8861221..8861222 [GRCh38]
Chr12:9013817..9013818 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1812C>G (p.Asp604Glu) single nucleotide variant not provided [RCV003871454] Chr12:8847677 [GRCh38]
Chr12:9000273 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1742T>C (p.Leu581Pro) single nucleotide variant not provided [RCV003556467] Chr12:8847607 [GRCh38]
Chr12:9000203 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1081-349_1081-348insCGGA insertion not provided [RCV003737522] Chr12:8841017..8841018 [GRCh38]
Chr12:8993613..8993614 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.993G>C (p.Gln331His) single nucleotide variant not provided [RCV003554732] Chr12:8839135 [GRCh38]
Chr12:8991731 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.802C>G (p.Arg268Gly) single nucleotide variant not provided [RCV003557156] Chr12:8837513 [GRCh38]
Chr12:8990109 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4221+16C>T single nucleotide variant not provided [RCV003722522] Chr12:8869219 [GRCh38]
Chr12:9021815 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1537+1G>T single nucleotide variant not provided [RCV003730971] Chr12:8845503 [GRCh38]
Chr12:8998099 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2825C>A (p.Thr942Asn) single nucleotide variant not provided [RCV003557410] Chr12:8855569 [GRCh38]
Chr12:9008165 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_144670.6(A2ML1):c.1961C>G (p.Ser654Trp) single nucleotide variant not provided [RCV003674602] Chr12:8848847 [GRCh38]
Chr12:9001443 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2149T>C (p.Ser717Pro) single nucleotide variant not provided [RCV003703917] Chr12:8850189 [GRCh38]
Chr12:9002785 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1684-19A>T single nucleotide variant not provided [RCV003684165] Chr12:8847530 [GRCh38]
Chr12:9000126 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4145A>G (p.Asn1382Ser) single nucleotide variant not provided [RCV003555831] Chr12:8868620 [GRCh38]
Chr12:9021216 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4277C>A (p.Thr1426Asn) single nucleotide variant not provided [RCV003704010] Chr12:8874480 [GRCh38]
Chr12:9027076 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.462+19_462+21del deletion not provided [RCV003550793] Chr12:8829796..8829798 [GRCh38]
Chr12:8982392..8982394 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4221+6T>G single nucleotide variant not provided [RCV003870745] Chr12:8869209 [GRCh38]
Chr12:9021805 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.279G>A (p.Val93=) single nucleotide variant not provided [RCV003722235] Chr12:8823752 [GRCh38]
Chr12:8976348 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.463-2A>C single nucleotide variant not provided [RCV003676461] Chr12:8834660 [GRCh38]
Chr12:8987256 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.634G>T (p.Glu212Ter) single nucleotide variant not provided [RCV003862399] Chr12:8835657 [GRCh38]
Chr12:8988253 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.62+9T>C single nucleotide variant not provided [RCV003823673] Chr12:8822722 [GRCh38]
Chr12:8975318 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2120-21_2120-20delinsCG indel not provided [RCV003557006] Chr12:8850139..8850140 [GRCh38]
Chr12:9002735..9002736 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.802C>T (p.Arg268Ter) single nucleotide variant not provided [RCV003555456] Chr12:8837513 [GRCh38]
Chr12:8990109 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.643+16G>A single nucleotide variant not provided [RCV003552990] Chr12:8835682 [GRCh38]
Chr12:8988278 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3776C>T (p.Ser1259Phe) single nucleotide variant not provided [RCV003680620] Chr12:8867900 [GRCh38]
Chr12:9020496 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3717+3A>C single nucleotide variant not provided [RCV003683588] Chr12:8864011 [GRCh38]
Chr12:9016607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2079T>C (p.Asp693=) single nucleotide variant not provided [RCV003853461] Chr12:8849719 [GRCh38]
Chr12:9002315 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2884G>A (p.Gly962Ser) single nucleotide variant not provided [RCV003682781] Chr12:8857199 [GRCh38]
Chr12:9009795 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.4062-5C>T single nucleotide variant not provided [RCV003862817] Chr12:8868532 [GRCh38]
Chr12:9021128 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2084G>A (p.Ser695Asn) single nucleotide variant not provided [RCV003730758] Chr12:8849724 [GRCh38]
Chr12:9002320 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3521G>T (p.Ser1174Ile) single nucleotide variant not provided [RCV003707401] Chr12:8863812 [GRCh38]
Chr12:9016408 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2235-18G>A single nucleotide variant not provided [RCV003676301] Chr12:8851766 [GRCh38]
Chr12:9004362 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.539T>C (p.Ile180Thr) single nucleotide variant not provided [RCV003731166] Chr12:8835562 [GRCh38]
Chr12:8988158 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1297C>T (p.Arg433Cys) single nucleotide variant not provided [RCV003864577] Chr12:8843182 [GRCh38]
Chr12:8995778 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3632_3633delinsAC (p.Thr1211Asn) indel not provided [RCV003678537] Chr12:8863923..8863924 [GRCh38]
Chr12:9016519..9016520 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3669T>C (p.Ala1223=) single nucleotide variant not provided [RCV003681661] Chr12:8863960 [GRCh38]
Chr12:9016556 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1914A>G (p.Pro638=) single nucleotide variant not provided [RCV003706694] Chr12:8848800 [GRCh38]
Chr12:9001396 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3339+11C>T single nucleotide variant not provided [RCV003677442] Chr12:8860966 [GRCh38]
Chr12:9013562 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1357C>T (p.Leu453Phe) single nucleotide variant not provided [RCV003841274] Chr12:8843242 [GRCh38]
Chr12:8995838 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2713-11C>A single nucleotide variant not provided [RCV003736204] Chr12:8854769 [GRCh38]
Chr12:9007365 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1683+13C>T single nucleotide variant not provided [RCV003562892] Chr12:8846235 [GRCh38]
Chr12:8998831 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.2187C>T (p.Val729=) single nucleotide variant not provided [RCV003562938] Chr12:8850227 [GRCh38]
Chr12:9002823 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.4221+2dup duplication not provided [RCV003729023] Chr12:8869204..8869205 [GRCh38]
Chr12:9021800..9021801 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.3359G>T (p.Gly1120Val) single nucleotide variant not provided [RCV003845353] Chr12:8861154 [GRCh38]
Chr12:9013750 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.504T>A (p.Ile168=) single nucleotide variant not provided [RCV003554154] Chr12:8835527 [GRCh38]
Chr12:8988123 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1723G>T (p.Ala575Ser) single nucleotide variant not provided [RCV003819101] Chr12:8847588 [GRCh38]
Chr12:9000184 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del deletion not specified [RCV003988342] Chr12:9000144..9007428 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1887G>A (p.Glu629=) single nucleotide variant A2ML1-related condition [RCV003952274] Chr12:8848773 [GRCh38]
Chr12:9001369 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.952G>A (p.Val318Ile) single nucleotide variant not provided [RCV003884030] Chr12:8838432 [GRCh38]
Chr12:8991028 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.1477-280A>G single nucleotide variant A2ML1-related condition [RCV003964657] Chr12:8845162 [GRCh38]
Chr12:8997758 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3693A>C (p.Ala1231=) single nucleotide variant A2ML1-related condition [RCV003936982] Chr12:8863984 [GRCh38]
Chr12:9016580 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1455A>G (p.Gln485=) single nucleotide variant A2ML1-related condition [RCV003896771] Chr12:8843340 [GRCh38]
Chr12:8995936 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3570G>A (p.Ala1190=) single nucleotide variant A2ML1-related condition [RCV003894378] Chr12:8863861 [GRCh38]
Chr12:9016457 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.3273TGA[2] (p.Asp1093del) microsatellite A2ML1-related condition [RCV003909745] Chr12:8860889..8860891 [GRCh38]
Chr12:9013485..9013487 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_144670.6(A2ML1):c.2748A>T (p.Ser916=) single nucleotide variant A2ML1-related condition [RCV003899357] Chr12:8854815 [GRCh38]
Chr12:9007411 [GRCh37]
Chr12:12p13.31		 likely benign
NM_144670.6(A2ML1):c.1545del (p.Ala516fs) deletion A2ML1-related condition [RCV003897094] Chr12:8846082 [GRCh38]
Chr12:8998678 [GRCh37]
Chr12:12p13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1712
Count of miRNA genes:868
Interacting mature miRNAs:1015
Transcripts:ENST00000299698, ENST00000536789, ENST00000537475, ENST00000537546, ENST00000539547, ENST00000540049, ENST00000541459, ENST00000545692, ENST00000545850
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 5 4 5
Medium 31 1 5 41 2 1 1309 24 18 10 230 28 44 4 708 1
Low 261 84 311 91 51 7 860 221 3026 37 698 79 87 60 621 3
Below cutoff 2024 2831 1221 323 1317 294 2111 1891 619 209 467 1368 37 1 1135 1441

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF330285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF354222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA436610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA456454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA461408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL594621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT908190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299698   ⟹   ENSP00000299698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,822,621 - 8,876,787 (+)Ensembl
RefSeq Acc Id: ENST00000536789   ⟹   ENSP00000440662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,844,954 - 8,846,124 (+)Ensembl
RefSeq Acc Id: ENST00000537475   ⟹   ENSP00000445674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,867,943 - 8,887,001 (+)Ensembl
RefSeq Acc Id: ENST00000537546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,823,513 - 8,834,935 (+)Ensembl
RefSeq Acc Id: ENST00000539547   ⟹   ENSP00000438292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,845,004 - 8,876,456 (+)Ensembl
RefSeq Acc Id: ENST00000540049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,845,283 - 8,848,795 (+)Ensembl
RefSeq Acc Id: ENST00000541459   ⟹   ENSP00000443174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,843,236 - 8,875,814 (+)Ensembl
RefSeq Acc Id: ENST00000545692   ⟹   ENSP00000440057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,845,281 - 8,848,901 (+)Ensembl
RefSeq Acc Id: ENST00000545850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,857,235 - 8,857,864 (+)Ensembl
RefSeq Acc Id: NM_001282424   ⟹   NP_001269353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,845,004 - 8,876,787 (+)NCBI
HuRef128,757,142 - 8,810,010 (+)NCBI
CHM1_1128,967,042 - 8,997,759 (+)NCBI
T2T-CHM13v2.0128,828,294 - 8,859,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144670   ⟹   NP_653271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,876,787 (+)NCBI
GRCh37128,975,150 - 9,029,381 (+)NCBI
Build 36128,866,417 - 8,920,646 (+)NCBI Archive
Celera1210,512,687 - 10,566,801 (+)RGD
HuRef128,757,142 - 8,810,010 (+)NCBI
CHM1_1128,944,523 - 8,997,759 (+)NCBI
T2T-CHM13v2.0128,805,910 - 8,859,059 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520566   ⟹   XP_011518868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,876,787 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520567   ⟹   XP_011518869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,875,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018869   ⟹   XP_016874358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,875,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018870   ⟹   XP_016874359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,875,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428387   ⟹   XP_047284343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,876,787 (+)NCBI
RefSeq Acc Id: XM_054371194   ⟹   XP_054227169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,859,059 (+)NCBI
RefSeq Acc Id: XM_054371195   ⟹   XP_054227170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,858,086 (+)NCBI
RefSeq Acc Id: XM_054371196   ⟹   XP_054227171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,858,086 (+)NCBI
RefSeq Acc Id: XM_054371197   ⟹   XP_054227172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,858,086 (+)NCBI
RefSeq Acc Id: XM_054371198   ⟹   XP_054227173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,859,059 (+)NCBI
RefSeq Acc Id: XR_001748594
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,887,459 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008488539
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,869,456 (+)NCBI
RefSeq Acc Id: XR_008488540
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,805,910 - 8,869,474 (+)NCBI
RefSeq Acc Id: XR_931275
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,887,459 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269353 (Get FASTA)   NCBI Sequence Viewer  
  NP_653271 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518868 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518869 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874358 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874359 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284343 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227169 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227170 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227171 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227172 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227173 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A8K2U0 (Get FASTA)   NCBI Sequence Viewer  
  AAH93840 (Get FASTA)   NCBI Sequence Viewer  
  AAI12132 (Get FASTA)   NCBI Sequence Viewer  
  BAB71612 (Get FASTA)   NCBI Sequence Viewer  
  BAC04793 (Get FASTA)   NCBI Sequence Viewer  
  BAC85494 (Get FASTA)   NCBI Sequence Viewer  
  BAC85653 (Get FASTA)   NCBI Sequence Viewer  
  BAC85654 (Get FASTA)   NCBI Sequence Viewer  
  BAF83044 (Get FASTA)   NCBI Sequence Viewer  
  BAG53918 (Get FASTA)   NCBI Sequence Viewer  
  BAH13740 (Get FASTA)   NCBI Sequence Viewer  
  EAW88602 (Get FASTA)   NCBI Sequence Viewer  
  EAW88603 (Get FASTA)   NCBI Sequence Viewer  
  EAW88604 (Get FASTA)   NCBI Sequence Viewer  
  EAW88605 (Get FASTA)   NCBI Sequence Viewer  
  EAW88606 (Get FASTA)   NCBI Sequence Viewer  
  EAW88607 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299698
  ENSP00000299698.7
  ENSP00000438292
  ENSP00000438292.1
  ENSP00000440057.1
  ENSP00000440662.1
  ENSP00000443174.1
  ENSP00000445674.1
GenBank Protein QUD18347 (Get FASTA)   NCBI Sequence Viewer  
  QUD18348 (Get FASTA)   NCBI Sequence Viewer  
  QUD18349 (Get FASTA)   NCBI Sequence Viewer  
  QUD18350 (Get FASTA)   NCBI Sequence Viewer  
  QUD18351 (Get FASTA)   NCBI Sequence Viewer  
  QUD18352 (Get FASTA)   NCBI Sequence Viewer  
  QUD18353 (Get FASTA)   NCBI Sequence Viewer  
  QUD18354 (Get FASTA)   NCBI Sequence Viewer  
  QUD18355 (Get FASTA)   NCBI Sequence Viewer  
  QUD18356 (Get FASTA)   NCBI Sequence Viewer  
  QUD18357 (Get FASTA)   NCBI Sequence Viewer  
  QUD18358 (Get FASTA)   NCBI Sequence Viewer  
  QUD18359 (Get FASTA)   NCBI Sequence Viewer  
  QUD18360 (Get FASTA)   NCBI Sequence Viewer  
  QUD18361 (Get FASTA)   NCBI Sequence Viewer  
  QUD18362 (Get FASTA)   NCBI Sequence Viewer  
  QUD18363 (Get FASTA)   NCBI Sequence Viewer  
  QUD18364 (Get FASTA)   NCBI Sequence Viewer  
  QUD18365 (Get FASTA)   NCBI Sequence Viewer  
  QUD18366 (Get FASTA)   NCBI Sequence Viewer  
  QUD18367 (Get FASTA)   NCBI Sequence Viewer  
  QUD18368 (Get FASTA)   NCBI Sequence Viewer  
  QUD18369 (Get FASTA)   NCBI Sequence Viewer  
  QUD18370 (Get FASTA)   NCBI Sequence Viewer  
  QUD18371 (Get FASTA)   NCBI Sequence Viewer  
  QUD18372 (Get FASTA)   NCBI Sequence Viewer  
  QUD18373 (Get FASTA)   NCBI Sequence Viewer  
  QUD18374 (Get FASTA)   NCBI Sequence Viewer  
  QUD18375 (Get FASTA)   NCBI Sequence Viewer  
  QUD18376 (Get FASTA)   NCBI Sequence Viewer  
  QUD18377 (Get FASTA)   NCBI Sequence Viewer  
  QUD18378 (Get FASTA)   NCBI Sequence Viewer  
  QUD18379 (Get FASTA)   NCBI Sequence Viewer  
  QUD18380 (Get FASTA)   NCBI Sequence Viewer  
  QUD18381 (Get FASTA)   NCBI Sequence Viewer  
  QUD18382 (Get FASTA)   NCBI Sequence Viewer  
  QUD18383 (Get FASTA)   NCBI Sequence Viewer  
  QUD18384 (Get FASTA)   NCBI Sequence Viewer  
  QUD18385 (Get FASTA)   NCBI Sequence Viewer  
  QUD18386 (Get FASTA)   NCBI Sequence Viewer  
  QUD18387 (Get FASTA)   NCBI Sequence Viewer  
  QUD18388 (Get FASTA)   NCBI Sequence Viewer  
  QUD18389 (Get FASTA)   NCBI Sequence Viewer  
  QUD18390 (Get FASTA)   NCBI Sequence Viewer  
  QUD18391 (Get FASTA)   NCBI Sequence Viewer  
  QUD18392 (Get FASTA)   NCBI Sequence Viewer  
  QUD18393 (Get FASTA)   NCBI Sequence Viewer  
  QUD18394 (Get FASTA)   NCBI Sequence Viewer  
  QUD18395 (Get FASTA)   NCBI Sequence Viewer  
  QUD18396 (Get FASTA)   NCBI Sequence Viewer  
  QUD18397 (Get FASTA)   NCBI Sequence Viewer  
  QUD18398 (Get FASTA)   NCBI Sequence Viewer  
  QUD18399 (Get FASTA)   NCBI Sequence Viewer  
  QUD18400 (Get FASTA)   NCBI Sequence Viewer  
  QUD18401 (Get FASTA)   NCBI Sequence Viewer  
  QUD18402 (Get FASTA)   NCBI Sequence Viewer  
  QUD18403 (Get FASTA)   NCBI Sequence Viewer  
  QUD18404 (Get FASTA)   NCBI Sequence Viewer  
  QUD18405 (Get FASTA)   NCBI Sequence Viewer  
  QUD18406 (Get FASTA)   NCBI Sequence Viewer  
  QUD18407 (Get FASTA)   NCBI Sequence Viewer  
  QUD18408 (Get FASTA)   NCBI Sequence Viewer  
  QUD18409 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_653271   ⟸   NM_144670
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N1M4 (UniProtKB/Swiss-Prot),   Q6ZW53 (UniProtKB/Swiss-Prot),   Q6ZW52 (UniProtKB/Swiss-Prot),   Q2M224 (UniProtKB/Swiss-Prot),   F5H2Z2 (UniProtKB/Swiss-Prot),   D3DUV3 (UniProtKB/Swiss-Prot),   B7Z7V4 (UniProtKB/Swiss-Prot),   B5MDD1 (UniProtKB/Swiss-Prot),   A8K2U0 (UniProtKB/Swiss-Prot),   Q96LQ8 (UniProtKB/Swiss-Prot),   B3KVV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269353   ⟸   NM_001282424
- Peptide Label: isoform 2
- UniProtKB: H0YGG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518868   ⟸   XM_011520566
- Peptide Label: isoform X1
- UniProtKB: B3KVV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518869   ⟸   XM_011520567
- Peptide Label: isoform X1
- UniProtKB: B3KVV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874358   ⟸   XM_017018869
- Peptide Label: isoform X2
- UniProtKB: B3KVV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874359   ⟸   XM_017018870
- Peptide Label: isoform X3
- UniProtKB: Q8N1M4 (UniProtKB/Swiss-Prot),   Q6ZW53 (UniProtKB/Swiss-Prot),   Q6ZW52 (UniProtKB/Swiss-Prot),   Q2M224 (UniProtKB/Swiss-Prot),   F5H2Z2 (UniProtKB/Swiss-Prot),   D3DUV3 (UniProtKB/Swiss-Prot),   B7Z7V4 (UniProtKB/Swiss-Prot),   B5MDD1 (UniProtKB/Swiss-Prot),   Q96LQ8 (UniProtKB/Swiss-Prot),   A8K2U0 (UniProtKB/Swiss-Prot),   B3KVV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000443174   ⟸   ENST00000541459
RefSeq Acc Id: ENSP00000440057   ⟸   ENST00000545692
RefSeq Acc Id: ENSP00000299698   ⟸   ENST00000299698
RefSeq Acc Id: ENSP00000440662   ⟸   ENST00000536789
RefSeq Acc Id: ENSP00000445674   ⟸   ENST00000537475
RefSeq Acc Id: ENSP00000438292   ⟸   ENST00000539547
RefSeq Acc Id: XP_047284343   ⟸   XM_047428387
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227169   ⟸   XM_054371194
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227173   ⟸   XM_054371198
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227170   ⟸   XM_054371195
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227171   ⟸   XM_054371196
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227172   ⟸   XM_054371197
- Peptide Label: isoform X3
Protein Domains
Alpha-2-macroglobulin   Alpha-2-macroglobulin bait region   Alpha-macroglobulin receptor-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8K2U0-F1-model_v2 AlphaFold A8K2U0 1-1454 view protein structure

Promoters
RGD ID:7223097
Promoter ID:EPDNEW_H17293
Type:multiple initiation site
Name:A2ML1_1
Description:alpha-2-macroglobulin like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17292  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,822,621 - 8,822,681EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23336 AgrOrtholog
COSMIC A2ML1 COSMIC
Ensembl Genes ENSG00000166535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299698 ENTREZGENE
  ENST00000299698.12 UniProtKB/Swiss-Prot
  ENST00000536789.5 UniProtKB/TrEMBL
  ENST00000537475.1 UniProtKB/TrEMBL
  ENST00000539547 ENTREZGENE
  ENST00000539547.5 UniProtKB/Swiss-Prot
  ENST00000541459.5 UniProtKB/TrEMBL
  ENST00000545692.1 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.130.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.1540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1930 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1940 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.50.160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166535 GTEx
HGNC ID HGNC:23336 ENTREZGENE
Human Proteome Map A2ML1 Human Proteome Map
InterPro A-macroglobulin_rcpt-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-macroglobulin_rcpt-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_TED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-macroglob_thiol-ester_cl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-macroglobulin_TED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Macroglobln_a2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MacrogloblnA2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpenoid_cyclase/PrenylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:144568 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 144568 ENTREZGENE
OMIM 610627 OMIM
PANTHER ALPHA-2-MACROGLOBULIN-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACROGLOBULIN / COMPLEMENT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TED_complement UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670460 PharmGKB
PROSITE ALPHA_2_MACROGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiol-ester_cl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2ML1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  B3KVV6 ENTREZGENE, UniProtKB/TrEMBL
  B5MDD1 ENTREZGENE
  B7Z7V4 ENTREZGENE
  D3DUV3 ENTREZGENE
  F5GXP1_HUMAN UniProtKB/TrEMBL
  F5GYG7_HUMAN UniProtKB/TrEMBL
  F5H2Z2 ENTREZGENE
  H0YGG5 ENTREZGENE, UniProtKB/TrEMBL
  H0YH14_HUMAN UniProtKB/TrEMBL
  Q2M224 ENTREZGENE
  Q6ZW52 ENTREZGENE
  Q6ZW53 ENTREZGENE
  Q8N1M4 ENTREZGENE
  Q96LQ8 ENTREZGENE
UniProt Secondary B5MDD1 UniProtKB/Swiss-Prot
  B7Z7V4 UniProtKB/Swiss-Prot
  D3DUV3 UniProtKB/Swiss-Prot
  F5H2Z2 UniProtKB/Swiss-Prot
  Q2M224 UniProtKB/Swiss-Prot
  Q6ZW52 UniProtKB/Swiss-Prot
  Q6ZW53 UniProtKB/Swiss-Prot
  Q8N1M4 UniProtKB/Swiss-Prot
  Q96LQ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 A2ML1  alpha-2-macroglobulin like 1    alpha-2-macroglobulin-like 1  Symbol and/or name change 5135510 APPROVED