AMN (amnion associated transmembrane protein) - Rat Genome Database

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Gene: AMN (amnion associated transmembrane protein) Homo sapiens
Analyze
Symbol: AMN
Name: amnion associated transmembrane protein
RGD ID: 1318522
HGNC Page HGNC:14604
Description: Enables cargo receptor activity and signaling receptor binding activity. Involved in several processes, including Golgi to plasma membrane protein transport; cobalamin metabolic process; and cobalamin transport. Located in several cellular components, including apical plasma membrane; endocytic vesicle; and extracellular space. Is active in microvillus membrane. Implicated in megaloblastic anemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amnionless; amnionless homolog; IGS2; PRO1028; visceral endoderm-specific type 1 transmembrane protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh3814102,922,663 - 102,930,842 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14102,922,663 - 102,933,596 (+)EnsemblGRCh38hg38GRCh38
GRCh3714103,389,000 - 103,397,179 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614102,458,747 - 102,467,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414102,458,756 - 102,467,282NCBI
Celera1483,443,115 - 83,451,301 (+)NCBICelera
Cytogenetic Map14q32.32NCBI
HuRef1483,564,008 - 83,572,214 (+)NCBIHuRef
CHM1_114103,326,435 - 103,334,619 (+)NCBICHM1_1
T2T-CHM13v2.01497,158,908 - 97,167,087 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. Broides A, etal., J Pediatr Hematol Oncol. 2006 Nov;28(11):715-9.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Tanner SM, etal., Nat Genet. 2003 Mar;33(3):426-9. Epub 2003 Feb 18.
8. Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Tanner SM, etal., Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56.
Additional References at PubMed
PMID:8660894   PMID:8889548   PMID:9851841   PMID:11279507   PMID:11279523   PMID:12477932   PMID:12975309   PMID:14576052   PMID:14702039   PMID:16403802   PMID:16730941   PMID:17979745  
PMID:18029348   PMID:19056867   PMID:20088845   PMID:21750092   PMID:21873635   PMID:22078000   PMID:23376485   PMID:26040326   PMID:29402915   PMID:30523278   PMID:32045704  


Genomics

Comparative Map Data
AMN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814102,922,663 - 102,930,842 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14102,922,663 - 102,933,596 (+)EnsemblGRCh38hg38GRCh38
GRCh3714103,389,000 - 103,397,179 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614102,458,747 - 102,467,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414102,458,756 - 102,467,282NCBI
Celera1483,443,115 - 83,451,301 (+)NCBICelera
Cytogenetic Map14q32.32NCBI
HuRef1483,564,008 - 83,572,214 (+)NCBIHuRef
CHM1_114103,326,435 - 103,334,619 (+)NCBICHM1_1
T2T-CHM13v2.01497,158,908 - 97,167,087 (+)NCBIT2T-CHM13v2.0
Amn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912111,237,530 - 111,242,860 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12111,237,529 - 111,242,860 (+)EnsemblGRCm39 Ensembl
GRCm3812111,271,096 - 111,276,426 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12111,271,095 - 111,276,426 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712112,509,322 - 112,514,637 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612111,718,919 - 111,724,234 (+)NCBIMGSCv36mm8
Celera12112,465,414 - 112,470,727 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1260.94NCBI
Amn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86136,132,567 - 136,140,008 (+)NCBIGRCr8
mRatBN7.26130,311,372 - 130,318,815 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6130,311,372 - 130,318,815 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6130,482,175 - 130,489,610 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06130,778,168 - 130,785,603 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06130,141,430 - 130,148,872 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06135,724,455 - 135,731,896 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6135,724,455 - 135,731,896 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06144,682,579 - 144,690,020 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46136,031,478 - 136,038,919 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16136,035,629 - 136,044,796 (+)NCBI
Celera6127,868,669 - 127,876,110 (+)NCBICelera
Cytogenetic Map6q32NCBI
Amn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555382,017,476 - 2,021,890 (+)NCBIChiLan1.0ChiLan1.0
AMN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215104,076,211 - 104,083,152 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114103,292,709 - 103,299,650 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01483,541,891 - 83,550,346 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114103,356,523 - 103,364,163 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14103,356,773 - 103,365,352 (+)Ensemblpanpan1.1panPan2
AMN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1870,800,435 - 70,807,835 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha870,312,298 - 70,320,278 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0871,077,067 - 71,085,111 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl871,077,060 - 71,088,041 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1870,740,802 - 70,748,789 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0870,805,229 - 70,813,173 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0871,205,503 - 71,213,499 (+)NCBIUU_Cfam_GSD_1.0
Amn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086403,225,612 - 3,234,832 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936835961,826 - 970,234 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936835961,840 - 970,287 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.27128,896,585 - 128,904,655 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12480,884,149 - 80,895,977 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2480,883,911 - 80,893,066 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605368,081,278 - 68,085,885 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Amn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247341,720,216 - 1,725,045 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247341,720,119 - 1,725,042 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMN
493 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
AMN, 1-BP DEL, 14G deletion Megaloblastic anemia 1, Norwegian type [RCV000005035] Chr14:14q32 pathogenic
NG_008276.2:g.10769A>G single nucleotide variant IMERSLUND-GRASBECK SYNDROME 2 [RCV000005037] Chr14:14q32 pathogenic
NC_000014.9:g.(?_102870182)_(102930700_?)del deletion Imerslund-Grasbeck syndrome [RCV000638880] Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000529520]|Imerslund-Grasbeck syndrome type 2 [RCV003114659]|not provided [RCV001591226] Chr14:102929723 [GRCh38]
Chr14:103396060 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001851660]|Imerslund-Grasbeck syndrome type 2 [RCV000005036] Chr14:102923789 [GRCh38]
Chr14:103390126 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.1006+16_1006+30del deletion Imerslund-Grasbeck syndrome [RCV000050154] Chr14:102930096..102930110 [GRCh38]
Chr14:103396433..103396447 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1006+34_1007-31del deletion Imerslund-Grasbeck syndrome [RCV000050155] Chr14:102930108..102930122 [GRCh38]
Chr14:103396445..103396459 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.1006+36_1007-29del deletion Imerslund-Grasbeck syndrome [RCV000050156] Chr14:102930122..102930136 [GRCh38]
Chr14:103396459..103396473 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs) deletion Imerslund-Grasbeck syndrome [RCV000050157] Chr14:102930172..102930179 [GRCh38]
Chr14:103396509..103396516 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1170-6C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050158]|not specified [RCV000506910] Chr14:102930400 [GRCh38]
Chr14:103396737 [GRCh37]
Chr14:14q32.32		 likely pathogenic|benign|uncertain significance
NM_030943.4(AMN):c.1253dup (p.Leu419fs) duplication Imerslund-Grasbeck syndrome [RCV000050159] Chr14:102930488..102930489 [GRCh38]
Chr14:103396825..103396826 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1257+10C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050160] Chr14:102930503 [GRCh38]
Chr14:103396840 [GRCh37]
Chr14:14q32.32		 likely pathogenic|benign
NM_030943.4(AMN):c.1314_1315del (p.His438fs) microsatellite Imerslund-Grasbeck syndrome [RCV000050161] Chr14:102930630..102930631 [GRCh38]
Chr14:103396967..103396968 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.14del (p.Gly5fs) deletion Imerslund-Grasbeck syndrome [RCV000050162]|Imerslund-Grasbeck syndrome type 2 [RCV000005035] Chr14:102922700 [GRCh38]
Chr14:103389037 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.208-1G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050163]|Imerslund-Grasbeck syndrome type 2 [RCV003338400] Chr14:102928425 [GRCh38]
Chr14:103394762 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.208-2A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050164]|Imerslund-Grasbeck syndrome type 1 [RCV001280864]|Imerslund-Grasbeck syndrome type 2 [RCV000005037]|not provided [RCV001815177] Chr14:102928424 [GRCh38]
Chr14:103394761 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.295+1del deletion Imerslund-Grasbeck syndrome [RCV000050165] Chr14:102928512 [GRCh38]
Chr14:103394849 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.43+1G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050166] Chr14:102922732 [GRCh38]
Chr14:103389069 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.468dup (p.Gly157fs) duplication Imerslund-Grasbeck syndrome [RCV000050167] Chr14:102928929..102928930 [GRCh38]
Chr14:103395266..103395267 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.514-34G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050168] Chr14:102929087 [GRCh38]
Chr14:103395424 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050169] Chr14:102929439 [GRCh38]
Chr14:103395776 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) deletion Imerslund-Grasbeck syndrome [RCV000050170] Chr14:102929455..102929502 [GRCh38]
Chr14:103395792..103395839 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050171] Chr14:102929477 [GRCh38]
Chr14:103395814 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050172]|Imerslund-Grasbeck syndrome type 1 [RCV001280865] Chr14:102929518 [GRCh38]
Chr14:103395855 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000050173] Chr14:102929655 [GRCh38]
Chr14:103395992 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.974_977dup (p.Ala327fs) duplication Imerslund-Grasbeck syndrome [RCV000050174] Chr14:102930052..102930053 [GRCh38]
Chr14:103396389..103396390 [GRCh37]
Chr14:14q32.32		 likely pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_030943.4(AMN):c.1086G>A (p.Ala362=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001869020]|not provided [RCV000755808] Chr14:102930244 [GRCh38]
Chr14:103396581 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
NM_030943.4(AMN):c.165G>A (p.Met55Ile) single nucleotide variant AMN-related condition [RCV003938138]|Imerslund-Grasbeck syndrome [RCV001083798]|not provided [RCV000756990] Chr14:102923937 [GRCh38]
Chr14:103390274 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.969G>A (p.Arg323=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001493873]|Imerslund-Grasbeck syndrome type 2 [RCV002501691] Chr14:102930049 [GRCh38]
Chr14:103396386 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1360T>A (p.Ter454Arg) single nucleotide variant not provided [RCV000722861] Chr14:102930678 [GRCh38]
Chr14:103397015 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_030943.4(AMN):c.363G>A (p.Gly121=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000638866]|Imerslund-Grasbeck syndrome type 2 [RCV003611529]|not provided [RCV002285384] Chr14:102928825 [GRCh38]
Chr14:103395162 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.760+1G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV000638863]|Imerslund-Grasbeck syndrome type 2 [RCV002499073] Chr14:102929537 [GRCh38]
Chr14:103395874 [GRCh37]
Chr14:14q32.32		 likely pathogenic
GRCh37/hg19 14q32.32(chr14:103265633-103470073)x1 copy number loss See cases [RCV000449318] Chr14:103265633..103470073 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1 copy number loss See cases [RCV000448868] Chr14:103390060..104436909 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
NM_030943.4(AMN):c.168_169dup (p.Ser57fs) microsatellite not provided [RCV000479285] Chr14:102923937..102923938 [GRCh38]
Chr14:103390274..103390275 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_030943.4(AMN):c.1170-37C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV000506127]|not provided [RCV001653867] Chr14:102930369 [GRCh38]
Chr14:103396706 [GRCh37]
Chr14:14q32.32		 benign
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.296-9C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV000555893] Chr14:102928749 [GRCh38]
Chr14:103395086 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000638856]|Imerslund-Grasbeck syndrome type 2 [RCV002492988] Chr14:102928862 [GRCh38]
Chr14:103395199 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) single nucleotide variant Cobalamin deficiency [RCV000626969]|Imerslund-Grasbeck syndrome type 2 [RCV002283499] Chr14:102923816 [GRCh38]
Chr14:103390153 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.292G>C (p.Ala98Pro) single nucleotide variant Inborn genetic diseases [RCV003286039] Chr14:102928510 [GRCh38]
Chr14:103394847 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.735C>T (p.Pro245=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000638878]|Imerslund-Grasbeck syndrome type 2 [RCV002492990] Chr14:102929511 [GRCh38]
Chr14:103395848 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.493dup (p.Ser165fs) duplication Imerslund-Grasbeck syndrome type 2 [RCV003313282] Chr14:102928954..102928955 [GRCh38]
Chr14:103395291..103395292 [GRCh37]
Chr14:14q32.32		 pathogenic
NC_000014.8:g.(?_103336519)_(103397037_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV000650557] Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.320_321dup (p.Asp108fs) microsatellite Cobalamin deficiency [RCV000626970] Chr14:102928779..102928780 [GRCh38]
Chr14:103395116..103395117 [GRCh37]
Chr14:14q32.32		 pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) duplication Imerslund-Grasbeck syndrome [RCV000721991]|Imerslund-Grasbeck syndrome type 2 [RCV003611530]|not provided [RCV001683651] Chr14:102930656..102930657 [GRCh38]
Chr14:103396993..103396994 [GRCh37]
Chr14:14q32.32		 benign|uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.844-1G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV000688181]|Imerslund-Grasbeck syndrome type 2 [RCV002493158] Chr14:102929923 [GRCh38]
Chr14:103396260 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NC_000014.9:g.102922458C>T single nucleotide variant not provided [RCV001566665] Chr14:102922458 [GRCh38]
Chr14:103388795 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1347_1348insTCGGGCC (p.Glu450fs) insertion not provided [RCV000722762] Chr14:102930660..102930661 [GRCh38]
Chr14:103396997..103396998 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) deletion Imerslund-Grasbeck syndrome type 2 [RCV002493300]|not provided [RCV000722856] Chr14:102930230..102930253 [GRCh38]
Chr14:103396567..103396590 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.32(chr14:102423214-103518117)x1 copy number loss not provided [RCV000751121] Chr14:102423214..103518117 [GRCh37]
Chr14:14q32.31-32.32		 likely pathogenic
NM_030943.4(AMN):c.321T>C (p.Ser107=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000862203]|Imerslund-Grasbeck syndrome type 2 [RCV002495226] Chr14:102928783 [GRCh38]
Chr14:103395120 [GRCh37]
Chr14:14q32.32		 benign
NC_000014.9:g.102922662T>C single nucleotide variant not provided [RCV001646002] Chr14:102922662 [GRCh38]
Chr14:103388999 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.57G>A (p.Ala19=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611542] Chr14:102923724 [GRCh38]
Chr14:103390061 [GRCh37]
Chr14:14q32.32		 likely benign
GRCh37/hg19 14q32.32(chr14:103289590-103420739)x3 copy number gain not provided [RCV000762693] Chr14:103289590..103420739 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) indel Imerslund-Grasbeck syndrome type 2 [RCV001095384] Chr14:102930199..102930200 [GRCh38]
Chr14:103396536..103396537 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.93C>T (p.Asp31=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000866778]|Imerslund-Grasbeck syndrome type 2 [RCV002507493] Chr14:102923760 [GRCh38]
Chr14:103390097 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.275C>T (p.Ser92Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002064471] Chr14:102928493 [GRCh38]
Chr14:103394830 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.45A>C (p.Ala15=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002536759]|Imerslund-Grasbeck syndrome type 2 [RCV002501267] Chr14:102923712 [GRCh38]
Chr14:103390049 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.123C>G (p.Thr41=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000901672] Chr14:102923790 [GRCh38]
Chr14:103390127 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3]) microsatellite Imerslund-Grasbeck syndrome [RCV000865819] Chr14:102930661..102930662 [GRCh38]
Chr14:103396998..103396999 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001062274] Chr14:102930222 [GRCh38]
Chr14:103396559 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.249C>G (p.Ala83=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003502556] Chr14:102928467 [GRCh38]
Chr14:103394804 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1137G>T (p.Ala379=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000861835]|Imerslund-Grasbeck syndrome type 2 [RCV002501203] Chr14:102930295 [GRCh38]
Chr14:103396632 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.843+11del deletion Imerslund-Grasbeck syndrome [RCV000865172] Chr14:102929747 [GRCh38]
Chr14:103396084 [GRCh37]
Chr14:14q32.32		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000806675]|Imerslund-Grasbeck syndrome type 2 [RCV002478870] Chr14:102930069 [GRCh38]
Chr14:103396406 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4 copy number gain not provided [RCV000848014] Chr14:102709744..103453834 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_030943.4(AMN):c.206T>A (p.Met69Lys) single nucleotide variant Imerslund-Grasbeck syndrome type 2 [RCV001095387] Chr14:102923978 [GRCh38]
Chr14:103390315 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1006+11_1008del deletion Imerslund-Grasbeck syndrome type 2 [RCV001095385] Chr14:102930095..102930164 [GRCh38]
Chr14:103396432..103396501 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.57G>T (p.Ala19=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000860868] Chr14:102923724 [GRCh38]
Chr14:103390061 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.324C>T (p.Asp108=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000861486]|not provided [RCV002285420] Chr14:102928786 [GRCh38]
Chr14:103395123 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.909C>T (p.Ala303=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000861802]|Imerslund-Grasbeck syndrome type 2 [RCV002501201] Chr14:102929989 [GRCh38]
Chr14:103396326 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NC_000014.8:g.(?_103355877)_(103395332_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV000803917] Chr14:102889540..102928995 [GRCh38]
Chr14:103355877..103395332 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.835C>T (p.Leu279=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000864141]|Imerslund-Grasbeck syndrome type 2 [RCV002501229] Chr14:102929729 [GRCh38]
Chr14:103396066 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.35del (p.Gln12fs) deletion Imerslund-Grasbeck syndrome type 2 [RCV001095386] Chr14:102922723 [GRCh38]
Chr14:103389060 [GRCh37]
Chr14:14q32.32		 pathogenic
GRCh37/hg19 14q32.32(chr14:103361735-103422077)x3 copy number gain not provided [RCV000849423] Chr14:103361735..103422077 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.32(chr14:103148050-103521100)x3 copy number gain not provided [RCV000846594] Chr14:103148050..103521100 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_030943.4(AMN):c.695G>T (p.Gly232Val) single nucleotide variant Inborn genetic diseases [RCV003272769] Chr14:102929471 [GRCh38]
Chr14:103395808 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.783C>T (p.His261=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003104658] Chr14:102929677 [GRCh38]
Chr14:103396014 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.43+286T>C single nucleotide variant not provided [RCV001577981] Chr14:102923017 [GRCh38]
Chr14:103389354 [GRCh37]
Chr14:14q32.32		 likely benign
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_030943.4(AMN):c.207+157G>C single nucleotide variant not provided [RCV001715211] Chr14:102924136 [GRCh38]
Chr14:103390473 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.492C>G (p.Arg164=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000982204]|Imerslund-Grasbeck syndrome type 2 [RCV002503133] Chr14:102928954 [GRCh38]
Chr14:103395291 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.208-10T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV000861901]|Imerslund-Grasbeck syndrome type 2 [RCV002501205] Chr14:102928416 [GRCh38]
Chr14:103394753 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) single nucleotide variant AMN-related condition [RCV003938210]|Imerslund-Grasbeck syndrome [RCV000861054]|Imerslund-Grasbeck syndrome type 2 [RCV003117624]|not provided [RCV003396494] Chr14:102929667 [GRCh38]
Chr14:103396004 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.231C>T (p.Leu77=) single nucleotide variant not provided [RCV000933498] Chr14:102928449 [GRCh38]
Chr14:103394786 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001210410]|Imerslund-Grasbeck syndrome type 2 [RCV002480695] Chr14:102930667 [GRCh38]
Chr14:103397004 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.805C>T (p.Arg269Trp) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001241902]|Inborn genetic diseases [RCV002564009] Chr14:102929699 [GRCh38]
Chr14:103396036 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.207+67T>C single nucleotide variant not provided [RCV001637617] Chr14:102924046 [GRCh38]
Chr14:103390383 [GRCh37]
Chr14:14q32.32		 benign
NC_000014.9:g.102922417C>T single nucleotide variant not provided [RCV001594083] Chr14:102922417 [GRCh38]
Chr14:103388754 [GRCh37]
Chr14:14q32.32		 likely benign
GRCh37/hg19 14q32.31-32.32(chr14:102824097-103427144)x3 copy number gain not provided [RCV001006655] Chr14:102824097..103427144 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_030943.4(AMN):c.*133T>C single nucleotide variant not provided [RCV001617346] Chr14:102930813 [GRCh38]
Chr14:103397150 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.43+146C>T single nucleotide variant not provided [RCV001679894] Chr14:102922877 [GRCh38]
Chr14:103389214 [GRCh37]
Chr14:14q32.32		 benign
NC_000014.9:g.102922615C>T single nucleotide variant not provided [RCV001645924] Chr14:102922615 [GRCh38]
Chr14:103388952 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.*38G>C single nucleotide variant not provided [RCV001641812] Chr14:102930718 [GRCh38]
Chr14:103397055 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.-23G>C single nucleotide variant not provided [RCV001669719] Chr14:102922666 [GRCh38]
Chr14:103389003 [GRCh37]
Chr14:14q32.32		 benign
NC_000014.9:g.102922602C>G single nucleotide variant not provided [RCV001710085] Chr14:102922602 [GRCh38]
Chr14:103388939 [GRCh37]
Chr14:14q32.32		 benign
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_030943.4(AMN):c.791dup (p.Phe265fs) duplication Imerslund-Grasbeck syndrome [RCV001206628] Chr14:102929684..102929685 [GRCh38]
Chr14:103396021..103396022 [GRCh37]
Chr14:14q32.32		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1036A>T (p.Met346Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001212238] Chr14:102930194 [GRCh38]
Chr14:103396531 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102978837-103503417)x3 copy number gain not provided [RCV001259800] Chr14:102978837..103503417 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002546717]|Imerslund-Grasbeck syndrome type 1 [RCV001335158]|Inborn genetic diseases [RCV003346482] Chr14:102930642 [GRCh38]
Chr14:103396979 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.873_874dup (p.Ser292fs) microsatellite Imerslund-Grasbeck syndrome [RCV001370762] Chr14:102929950..102929951 [GRCh38]
Chr14:103396287..103396288 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.56C>T (p.Ala19Val) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001361054] Chr14:102923723 [GRCh38]
Chr14:103390060 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001361099]|Imerslund-Grasbeck syndrome type 2 [RCV002476648]|Inborn genetic diseases [RCV003246938] Chr14:102929705 [GRCh38]
Chr14:103396042 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001322173]|Inborn genetic diseases [RCV002545103] Chr14:102930661 [GRCh38]
Chr14:103396998 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
NM_030943.4(AMN):c.500C>T (p.Ser167Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001344228]|Inborn genetic diseases [RCV002547006] Chr14:102928962 [GRCh38]
Chr14:103395299 [GRCh37]
Chr14:14q32.32		 uncertain significance
NC_000014.8:g.(?_103336519)_(103397037_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV001319584] Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.296-10T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV001366705] Chr14:102928748 [GRCh38]
Chr14:103395085 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
NM_030943.4(AMN):c.175C>T (p.Leu59=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001489989] Chr14:102923947 [GRCh38]
Chr14:103390284 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.459G>C (p.Gly153=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001437151] Chr14:102928921 [GRCh38]
Chr14:103395258 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1287G>C (p.Pro429=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001446876] Chr14:102930605 [GRCh38]
Chr14:103396942 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.423C>T (p.Asp141=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001404017] Chr14:102928885 [GRCh38]
Chr14:103395222 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1176G>A (p.Arg392=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001497907]|Imerslund-Grasbeck syndrome type 2 [RCV002501716] Chr14:102930412 [GRCh38]
Chr14:103396749 [GRCh37]
Chr14:14q32.32		 likely benign
NC_000014.9:g.102922443A>T single nucleotide variant not provided [RCV001610027] Chr14:102922443 [GRCh38]
Chr14:103388780 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.760+10C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV001417494] Chr14:102929546 [GRCh38]
Chr14:103395883 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.63C>T (p.Ser21=) single nucleotide variant AMN-related condition [RCV003966076]|Imerslund-Grasbeck syndrome [RCV001512670]|Imerslund-Grasbeck syndrome type 2 [RCV002495791] Chr14:102923730 [GRCh38]
Chr14:103390067 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.1152C>T (p.Arg384=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001404648]|Imerslund-Grasbeck syndrome type 2 [RCV002493958] Chr14:102930310 [GRCh38]
Chr14:103396647 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1200T>C (p.Ala400=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001437345] Chr14:102930436 [GRCh38]
Chr14:103396773 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.844-3C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV001522144]|Imerslund-Grasbeck syndrome type 2 [RCV002501841] Chr14:102929921 [GRCh38]
Chr14:103396258 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.603C>A (p.Gly201=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001499627]|Imerslund-Grasbeck syndrome type 2 [RCV002501721] Chr14:102929210 [GRCh38]
Chr14:103395547 [GRCh37]
Chr14:14q32.32		 likely benign
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33		 uncertain significance
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) indel Imerslund-Grasbeck syndrome type 2 [RCV001783494] Chr14:102928759..102928761 [GRCh38]
Chr14:103395096..103395098 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.872_875del (p.Val291fs) deletion Imerslund-Grasbeck syndrome type 2 [RCV001783487] Chr14:102929952..102929955 [GRCh38]
Chr14:103396289..103396292 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.847_848dup (p.Gln283fs) duplication Imerslund-Grasbeck syndrome type 2 [RCV001785918] Chr14:102929926..102929927 [GRCh38]
Chr14:103396263..103396264 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) duplication Imerslund-Grasbeck syndrome [RCV001896732]|Imerslund-Grasbeck syndrome type 2 [RCV003136279] Chr14:102930264..102930265 [GRCh38]
Chr14:103396601..103396602 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.682C>G (p.Gln228Glu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002006975] Chr14:102929458 [GRCh38]
Chr14:103395795 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002020583]|Imerslund-Grasbeck syndrome type 2 [RCV002486698] Chr14:102928818 [GRCh38]
Chr14:103395155 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4 copy number gain not provided [RCV001825177] Chr14:102871245..103645036 [GRCh37]
Chr14:14q32.31-32.32		 not provided
NM_030943.4(AMN):c.1257G>A (p.Leu419=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001969034] Chr14:102930493 [GRCh38]
Chr14:103396830 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.44-7_44-5del microsatellite Imerslund-Grasbeck syndrome [RCV002002593]|Imerslund-Grasbeck syndrome type 2 [RCV003611565] Chr14:102923699..102923701 [GRCh38]
Chr14:103390036..103390038 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001914331]|Imerslund-Grasbeck syndrome type 2 [RCV002507577] Chr14:102930086 [GRCh38]
Chr14:103396423 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.197T>C (p.Val66Ala) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001928569]|Imerslund-Grasbeck syndrome type 2 [RCV002484488] Chr14:102923969 [GRCh38]
Chr14:103390306 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1007-3C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV001892383] Chr14:102930162 [GRCh38]
Chr14:103396499 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001967958] Chr14:102930299 [GRCh38]
Chr14:103396636 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001893588] Chr14:102930648 [GRCh38]
Chr14:103396985 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.928G>A (p.Val310Met) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001940681] Chr14:102930008 [GRCh38]
Chr14:103396345 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001982006]|Imerslund-Grasbeck syndrome type 2 [RCV002503658] Chr14:102929139 [GRCh38]
Chr14:103395476 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001922879]|Imerslund-Grasbeck syndrome type 2 [RCV002503577] Chr14:102930281 [GRCh38]
Chr14:103396618 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.110G>A (p.Ser37Asn) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001906537]|Inborn genetic diseases [RCV002555302] Chr14:102923777 [GRCh38]
Chr14:103390114 [GRCh37]
Chr14:14q32.32		 uncertain significance
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs) duplication Imerslund-Grasbeck syndrome [RCV002011794] Chr14:102930624..102930625 [GRCh38]
Chr14:103396961..103396962 [GRCh37]
Chr14:14q32.32		 uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_030943.4(AMN):c.296-3C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV001981153] Chr14:102928755 [GRCh38]
Chr14:103395092 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.948del (p.Glu317fs) deletion Imerslund-Grasbeck syndrome [RCV001881125] Chr14:102930026 [GRCh38]
Chr14:103396363 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1056C>A (p.His352Gln) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001900574]|Imerslund-Grasbeck syndrome type 2 [RCV002482595] Chr14:102930214 [GRCh38]
Chr14:103396551 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001979092]|Imerslund-Grasbeck syndrome type 2 [RCV002479534] Chr14:102923775 [GRCh38]
Chr14:103390112 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.651+3G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV001898281]|Imerslund-Grasbeck syndrome type 2 [RCV002506978] Chr14:102929261 [GRCh38]
Chr14:103395598 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.790G>A (p.Ala264Thr) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002033723] Chr14:102929684 [GRCh38]
Chr14:103396021 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001938043]|Imerslund-Grasbeck syndrome type 2 [RCV002484441] Chr14:102928910 [GRCh38]
Chr14:103395247 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.21C>T (p.Val7=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002126701] Chr14:102922709 [GRCh38]
Chr14:103389046 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1179G>A (p.Arg393=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002107581]|Imerslund-Grasbeck syndrome type 2 [RCV002499967] Chr14:102930415 [GRCh38]
Chr14:103396752 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.208-16C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002128936] Chr14:102928410 [GRCh38]
Chr14:103394747 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.1258-8C>T single nucleotide variant AMN-related condition [RCV003950996]|Imerslund-Grasbeck syndrome [RCV002081129] Chr14:102930568 [GRCh38]
Chr14:103396905 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.514-34G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV002171682]|Imerslund-Grasbeck syndrome type 2 [RCV003611567] Chr14:102929087 [GRCh38]
Chr14:103395424 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.207+9G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002188504]|Imerslund-Grasbeck syndrome type 2 [RCV002505854] Chr14:102923988 [GRCh38]
Chr14:103390325 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+20dup duplication Imerslund-Grasbeck syndrome [RCV002115759]|Imerslund-Grasbeck syndrome type 2 [RCV002508011] Chr14:102930507..102930508 [GRCh38]
Chr14:103396844..103396845 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.843+12G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002079430] Chr14:102929749 [GRCh38]
Chr14:103396086 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.801G>C (p.Leu267=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002190105] Chr14:102929695 [GRCh38]
Chr14:103396032 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.841C>T (p.Leu281=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002173708]|Imerslund-Grasbeck syndrome type 2 [RCV002494329] Chr14:102929735 [GRCh38]
Chr14:103396072 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.1017C>A (p.Leu339=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002076612] Chr14:102930175 [GRCh38]
Chr14:103396512 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.345G>A (p.Pro115=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002071710] Chr14:102928807 [GRCh38]
Chr14:103395144 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.652-14G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002178976] Chr14:102929414 [GRCh38]
Chr14:103395751 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.21C>A (p.Val7=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002142596] Chr14:102922709 [GRCh38]
Chr14:103389046 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.43+8G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002083088] Chr14:102922739 [GRCh38]
Chr14:103389076 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+11C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002122920] Chr14:102929748 [GRCh38]
Chr14:103396085 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.1169+11C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV002117897]|Imerslund-Grasbeck syndrome type 2 [RCV002500031] Chr14:102930338 [GRCh38]
Chr14:103396675 [GRCh37]
Chr14:14q32.32		 benign|likely benign
NM_030943.4(AMN):c.1258-14C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV002122362]|Imerslund-Grasbeck syndrome type 2 [RCV002494230] Chr14:102930562 [GRCh38]
Chr14:103396899 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.513+8C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002101687] Chr14:102928983 [GRCh38]
Chr14:103395320 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.62C>T (p.Ser21Phe) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003118048] Chr14:102923729 [GRCh38]
Chr14:103390066 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.761-20C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003112139] Chr14:102929635 [GRCh38]
Chr14:103395972 [GRCh37]
Chr14:14q32.32		 likely benign
NC_000014.9:g.102573453_103575949del deletion Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] Chr14:102573453..103575949 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.412C>A (p.Arg138Ser) single nucleotide variant Inborn genetic diseases [RCV003252752] Chr14:102928874 [GRCh38]
Chr14:103395211 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.207+157G>T single nucleotide variant not provided [RCV002285616] Chr14:102924136 [GRCh38]
Chr14:103390473 [GRCh37]
Chr14:14q32.32		 likely benign
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_030943.4(AMN):c.671C>A (p.Ala224Glu) single nucleotide variant Inborn genetic diseases [RCV002902063] Chr14:102929447 [GRCh38]
Chr14:103395784 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_030943.4(AMN):c.43+10G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002880544] Chr14:102922741 [GRCh38]
Chr14:103389078 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1019G>A (p.Gly340Asp) single nucleotide variant Inborn genetic diseases [RCV002945429] Chr14:102930177 [GRCh38]
Chr14:103396514 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.712G>A (p.Ala238Thr) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002947897] Chr14:102929488 [GRCh38]
Chr14:103395825 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.870C>T (p.Ala290=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002971414] Chr14:102929950 [GRCh38]
Chr14:103396287 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.163-3C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002616069] Chr14:102923932 [GRCh38]
Chr14:103390269 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.141C>T (p.Ala47=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003073835] Chr14:102923808 [GRCh38]
Chr14:103390145 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.246A>G (p.Gly82=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002615696] Chr14:102928464 [GRCh38]
Chr14:103394801 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.600G>A (p.Val200=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002838291] Chr14:102929207 [GRCh38]
Chr14:103395544 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1234G>A (p.Asp412Asn) single nucleotide variant Inborn genetic diseases [RCV002687212] Chr14:102930470 [GRCh38]
Chr14:103396807 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1170-17C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002686308] Chr14:102930389 [GRCh38]
Chr14:103396726 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.844-13T>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002880349] Chr14:102929911 [GRCh38]
Chr14:103396248 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1199C>T (p.Ala400Val) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002776241] Chr14:102930435 [GRCh38]
Chr14:103396772 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.208-15C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV002755847] Chr14:102928411 [GRCh38]
Chr14:103394748 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.81C>T (p.Asn27=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002947263] Chr14:102923748 [GRCh38]
Chr14:103390085 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.526G>A (p.Asp176Asn) single nucleotide variant Inborn genetic diseases [RCV002836707]|not provided [RCV003481416] Chr14:102929133 [GRCh38]
Chr14:103395470 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.702C>T (p.Cys234=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003097570] Chr14:102929478 [GRCh38]
Chr14:103395815 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003075526] Chr14:102930303 [GRCh38]
Chr14:103396640 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1170-8G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003037356] Chr14:102930398 [GRCh38]
Chr14:103396735 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.968G>C (p.Arg323Pro) single nucleotide variant Inborn genetic diseases [RCV002783721] Chr14:102930048 [GRCh38]
Chr14:103396385 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1257+15G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002637969] Chr14:102930508 [GRCh38]
Chr14:103396845 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.294G>A (p.Ala98=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002638602] Chr14:102928512 [GRCh38]
Chr14:103394849 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.296-9C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV002912883] Chr14:102928749 [GRCh38]
Chr14:103395086 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1170-10A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV002620421] Chr14:102930396 [GRCh38]
Chr14:103396733 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.130G>A (p.Ala44Thr) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002694901] Chr14:102923797 [GRCh38]
Chr14:103390134 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1257+20G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV002910237] Chr14:102930513 [GRCh38]
Chr14:103396850 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+10C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002866868] Chr14:102930503 [GRCh38]
Chr14:103396840 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003077233] Chr14:102930588 [GRCh38]
Chr14:103396925 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.250G>A (p.Gly84Arg) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002690962] Chr14:102928468 [GRCh38]
Chr14:103394805 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.163-11T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003080874] Chr14:102923924 [GRCh38]
Chr14:103390261 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.1006+12_1006+35dup duplication Imerslund-Grasbeck syndrome [RCV003078659] Chr14:102930090..102930091 [GRCh38]
Chr14:103396427..103396428 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.806G>T (p.Arg269Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002658904] Chr14:102929700 [GRCh38]
Chr14:103396037 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.998C>G (p.Ala333Gly) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003019994] Chr14:102930078 [GRCh38]
Chr14:103396415 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.480C>T (p.Pro160=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002761321] Chr14:102928942 [GRCh38]
Chr14:103395279 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.652-10C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002785422] Chr14:102929418 [GRCh38]
Chr14:103395755 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+6C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003038420] Chr14:102930092 [GRCh38]
Chr14:103396429 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.703C>G (p.Pro235Ala) single nucleotide variant Inborn genetic diseases [RCV002738955] Chr14:102929479 [GRCh38]
Chr14:103395816 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.914C>T (p.Thr305Met) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003078671] Chr14:102929994 [GRCh38]
Chr14:103396331 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.141C>G (p.Ala47=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003036036] Chr14:102923808 [GRCh38]
Chr14:103390145 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.162+15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002711799] Chr14:102923844 [GRCh38]
Chr14:103390181 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1314C>T (p.His438=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003008284] Chr14:102930632 [GRCh38]
Chr14:103396969 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.162+13G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003082884] Chr14:102923842 [GRCh38]
Chr14:103390179 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr) indel Imerslund-Grasbeck syndrome [RCV003040521] Chr14:102930019..102930020 [GRCh38]
Chr14:103396356..103396357 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.967C>T (p.Arg323Trp) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003084244] Chr14:102930047 [GRCh38]
Chr14:103396384 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.295+20G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002624506] Chr14:102928533 [GRCh38]
Chr14:103394870 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.268G>A (p.Val90Met) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003085722] Chr14:102928486 [GRCh38]
Chr14:103394823 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1099G>A (p.Ala367Thr) single nucleotide variant Inborn genetic diseases [RCV002743913] Chr14:102930257 [GRCh38]
Chr14:103396594 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.582G>T (p.Gly194=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002790816] Chr14:102929189 [GRCh38]
Chr14:103395526 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1272G>C (p.Arg424=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002596667] Chr14:102930590 [GRCh38]
Chr14:103396927 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.140C>T (p.Ala47Val) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002932555]|Inborn genetic diseases [RCV002932556] Chr14:102923807 [GRCh38]
Chr14:103390144 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.316G>A (p.Asp106Asn) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003049466] Chr14:102928778 [GRCh38]
Chr14:103395115 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.968G>T (p.Arg323Leu) single nucleotide variant Inborn genetic diseases [RCV002940291] Chr14:102930048 [GRCh38]
Chr14:103396385 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.864G>T (p.Gln288His) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003048902] Chr14:102929944 [GRCh38]
Chr14:103396281 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.462C>T (p.Leu154=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003091255] Chr14:102928924 [GRCh38]
Chr14:103395261 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.603C>T (p.Gly201=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003044089] Chr14:102929210 [GRCh38]
Chr14:103395547 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1197G>C (p.Pro399=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003089617] Chr14:102930433 [GRCh38]
Chr14:103396770 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.440G>C (p.Ser147Thr) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002746391] Chr14:102928902 [GRCh38]
Chr14:103395239 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.395C>T (p.Ala132Val) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002716127] Chr14:102928857 [GRCh38]
Chr14:103395194 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.652-20A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003046548] Chr14:102929408 [GRCh38]
Chr14:103395745 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.481G>T (p.Val161Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003089718] Chr14:102928943 [GRCh38]
Chr14:103395280 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.780C>A (p.Thr260=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003065021] Chr14:102929674 [GRCh38]
Chr14:103396011 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002714911] Chr14:102930455 [GRCh38]
Chr14:103396792 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.7G>C (p.Val3Leu) single nucleotide variant Inborn genetic diseases [RCV002921271] Chr14:102922695 [GRCh38]
Chr14:103389032 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.855C>G (p.His285Gln) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002650950] Chr14:102929935 [GRCh38]
Chr14:103396272 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.892T>C (p.Ser298Pro) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002895698] Chr14:102929972 [GRCh38]
Chr14:103396309 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002715482] Chr14:102930428 [GRCh38]
Chr14:103396765 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1006+8C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002603330] Chr14:102930094 [GRCh38]
Chr14:103396431 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+18G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003069302] Chr14:102930511 [GRCh38]
Chr14:103396848 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.513+16A>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003068264] Chr14:102928991 [GRCh38]
Chr14:103395328 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.558C>T (p.Arg186=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002942535] Chr14:102929165 [GRCh38]
Chr14:103395502 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.153G>A (p.Pro51=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002633200] Chr14:102923820 [GRCh38]
Chr14:103390157 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.162+12C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002943437] Chr14:102923841 [GRCh38]
Chr14:103390178 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.296-16A>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV002609681] Chr14:102928742 [GRCh38]
Chr14:103395079 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+9del deletion Imerslund-Grasbeck syndrome [RCV003068535] Chr14:102930498 [GRCh38]
Chr14:103396835 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.206T>C (p.Met69Thr) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003071709] Chr14:102923978 [GRCh38]
Chr14:103390315 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.454G>A (p.Val152Met) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002586888] Chr14:102928916 [GRCh38]
Chr14:103395253 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.43G>T (p.Ala15Ser) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003049966] Chr14:102922731 [GRCh38]
Chr14:103389068 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1007-15G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002588410] Chr14:102930150 [GRCh38]
Chr14:103396487 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-4G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002944264] Chr14:102930161 [GRCh38]
Chr14:103396498 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln) indel Imerslund-Grasbeck syndrome [RCV002612582] Chr14:102928953..102928954 [GRCh38]
Chr14:103395290..103395291 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.842T>C (p.Leu281Pro) single nucleotide variant Inborn genetic diseases [RCV003220900] Chr14:102929736 [GRCh38]
Chr14:103396073 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.163-6C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611642]|Inborn genetic diseases [RCV003379233] Chr14:102923929 [GRCh38]
Chr14:103390266 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
NM_030943.4(AMN):c.1240A>G (p.Thr414Ala) single nucleotide variant Inborn genetic diseases [RCV003344714] Chr14:102930476 [GRCh38]
Chr14:103396813 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.509G>A (p.Gly170Asp) single nucleotide variant Inborn genetic diseases [RCV003367691] Chr14:102928971 [GRCh38]
Chr14:103395308 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.630C>T (p.Gly210=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506073] Chr14:102929237 [GRCh38]
Chr14:103395574 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1169+2T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505458] Chr14:102930329 [GRCh38]
Chr14:103396666 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.34C>T (p.Gln12Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003875274] Chr14:102922722 [GRCh38]
Chr14:103389059 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506306] Chr14:102930606 [GRCh38]
Chr14:103396943 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.258C>T (p.Gly86=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505468] Chr14:102928476 [GRCh38]
Chr14:103394813 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.761-4G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506319] Chr14:102929651 [GRCh38]
Chr14:103395988 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.170C>G (p.Ser57Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505776] Chr14:102923942 [GRCh38]
Chr14:103390279 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.177G>A (p.Leu59=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505780] Chr14:102923949 [GRCh38]
Chr14:103390286 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.44-9C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506109] Chr14:102923702 [GRCh38]
Chr14:103390039 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.705C>A (p.Pro235=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505512] Chr14:102929481 [GRCh38]
Chr14:103395818 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.968_975del (p.Arg323fs) deletion Imerslund-Grasbeck syndrome [RCV003505795] Chr14:102930047..102930054 [GRCh38]
Chr14:103396384..103396391 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1194C>G (p.Ala398=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505797] Chr14:102930430 [GRCh38]
Chr14:103396767 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.753C>T (p.Asp251=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506183] Chr14:102929529 [GRCh38]
Chr14:103395866 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.208-14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506233] Chr14:102928412 [GRCh38]
Chr14:103394749 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.756C>A (p.Leu252=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504798] Chr14:102929532 [GRCh38]
Chr14:103395869 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1191G>C (p.Ala397=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003873586] Chr14:102930427 [GRCh38]
Chr14:103396764 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1227G>A (p.Pro409=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505522] Chr14:102930463 [GRCh38]
Chr14:103396800 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-7G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505526] Chr14:102930158 [GRCh38]
Chr14:103396495 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1104C>G (p.Ala368=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003874958] Chr14:102930262 [GRCh38]
Chr14:103396599 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+11G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506216] Chr14:102923990 [GRCh38]
Chr14:103390327 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+13T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504922] Chr14:102923992 [GRCh38]
Chr14:103390329 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+7G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505551] Chr14:102929744 [GRCh38]
Chr14:103396081 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.844-11C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505848] Chr14:102929913 [GRCh38]
Chr14:103396250 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1089C>T (p.Gly363=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505850] Chr14:102930247 [GRCh38]
Chr14:103396584 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1146G>C (p.Leu382=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505881] Chr14:102930304 [GRCh38]
Chr14:103396641 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1242G>A (p.Thr414=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506111] Chr14:102930478 [GRCh38]
Chr14:103396815 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.561G>A (p.Ala187=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506166] Chr14:102929168 [GRCh38]
Chr14:103395505 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1248C>T (p.Ser416=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504990] Chr14:102930484 [GRCh38]
Chr14:103396821 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1279C>T (p.Leu427=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505007] Chr14:102930597 [GRCh38]
Chr14:103396934 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.587del (p.Gly196fs) deletion Imerslund-Grasbeck syndrome [RCV003505900] Chr14:102929192 [GRCh38]
Chr14:103395529 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1350G>A (p.Glu450=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505901] Chr14:102930668 [GRCh38]
Chr14:103397005 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.918G>A (p.Glu306=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506103] Chr14:102929998 [GRCh38]
Chr14:103396335 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.24G>T (p.Leu8=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504583] Chr14:102922712 [GRCh38]
Chr14:103389049 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+14G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003874284] Chr14:102929751 [GRCh38]
Chr14:103396088 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.754C>T (p.Leu252Phe) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506176] Chr14:102929530 [GRCh38]
Chr14:103395867 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.156G>A (p.Ala52=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003873929] Chr14:102923823 [GRCh38]
Chr14:103390160 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.760+15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504734] Chr14:102929551 [GRCh38]
Chr14:103395888 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1169+16G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505634] Chr14:102930343 [GRCh38]
Chr14:103396680 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.861G>C (p.Leu287=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504742] Chr14:102929941 [GRCh38]
Chr14:103396278 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.349C>T (p.Leu117=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504760] Chr14:102928811 [GRCh38]
Chr14:103395148 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1344G>A (p.Gly448=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505656] Chr14:102930662 [GRCh38]
Chr14:103396999 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.705C>G (p.Pro235=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505952] Chr14:102929481 [GRCh38]
Chr14:103395818 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-8C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505970] Chr14:102930568 [GRCh38]
Chr14:103396905 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.384C>T (p.Phe128=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504781] Chr14:102928846 [GRCh38]
Chr14:103395183 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.208-20T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504915] Chr14:102928406 [GRCh38]
Chr14:103394743 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504945] Chr14:102930561 [GRCh38]
Chr14:103396898 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.652-4C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505665] Chr14:102929424 [GRCh38]
Chr14:103395761 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1161dup (p.Arg388fs) duplication Imerslund-Grasbeck syndrome [RCV003873006] Chr14:102930315..102930316 [GRCh38]
Chr14:103396652..103396653 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.921C>T (p.Ile307=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504884] Chr14:102930001 [GRCh38]
Chr14:103396338 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.296-1G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504918] Chr14:102928757 [GRCh38]
Chr14:103395094 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.43+17C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505025] Chr14:102922748 [GRCh38]
Chr14:103389085 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.213G>A (p.Leu71=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505995] Chr14:102928431 [GRCh38]
Chr14:103394768 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1014C>A (p.Ala338=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505997] Chr14:102930172 [GRCh38]
Chr14:103396509 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-9C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506002] Chr14:102930397 [GRCh38]
Chr14:103396734 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1320C>T (p.Tyr440=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506005] Chr14:102930638 [GRCh38]
Chr14:103396975 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+17A>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504719] Chr14:102923996 [GRCh38]
Chr14:103390333 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+20A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504773] Chr14:102929757 [GRCh38]
Chr14:103396094 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.534_535dup (p.Leu179fs) duplication Imerslund-Grasbeck syndrome [RCV003505681] Chr14:102929140..102929141 [GRCh38]
Chr14:103395477..103395478 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.276G>C (p.Ser92=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506015] Chr14:102928494 [GRCh38]
Chr14:103394831 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.687C>T (p.Pro229=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506288] Chr14:102929463 [GRCh38]
Chr14:103395800 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.844-17C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504653] Chr14:102929907 [GRCh38]
Chr14:103396244 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003504747] Chr14:102930392 [GRCh38]
Chr14:103396729 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.678G>A (p.Leu226=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505463] Chr14:102929454 [GRCh38]
Chr14:103395791 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.669C>A (p.Cys223Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505694] Chr14:102929445 [GRCh38]
Chr14:103395782 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.514-15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505405] Chr14:102929106 [GRCh38]
Chr14:103395443 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-34del deletion Imerslund-Grasbeck syndrome [RCV003505409] Chr14:102930130 [GRCh38]
Chr14:103396467 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-31G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505410] Chr14:102930134 [GRCh38]
Chr14:103396471 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.513+14G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506051] Chr14:102928989 [GRCh38]
Chr14:103395326 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.264A>G (p.Ser88=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506052] Chr14:102928482 [GRCh38]
Chr14:103394819 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1169+14G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506061] Chr14:102930341 [GRCh38]
Chr14:103396678 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.990G>A (p.Ala330=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506165] Chr14:102930070 [GRCh38]
Chr14:103396407 [GRCh37]
Chr14:14q32.32		 likely benign
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_030943.4(AMN):c.660G>C (p.Pro220=) single nucleotide variant not provided [RCV003400641] Chr14:102929436 [GRCh38]
Chr14:103395773 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter) single nucleotide variant AMN-related condition [RCV003399488]|Imerslund-Grasbeck syndrome [RCV003611643] Chr14:102930409 [GRCh38]
Chr14:103396746 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.44-1G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003827569] Chr14:102923710 [GRCh38]
Chr14:103390047 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1007-38_1007-34dup duplication Imerslund-Grasbeck syndrome [RCV003875887] Chr14:102930122..102930123 [GRCh38]
Chr14:103396459..103396460 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.683_705dup (p.Gln236fs) duplication Imerslund-Grasbeck syndrome [RCV003506629] Chr14:102929456..102929457 [GRCh38]
Chr14:103395793..103395794 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.672G>A (p.Ala224=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003829367] Chr14:102929448 [GRCh38]
Chr14:103395785 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.192C>T (p.His64=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003877953] Chr14:102923964 [GRCh38]
Chr14:103390301 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.761-20C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506340] Chr14:102929635 [GRCh38]
Chr14:103395972 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-32C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506464] Chr14:102930133 [GRCh38]
Chr14:103396470 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.126G>A (p.Pro42=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506497] Chr14:102923793 [GRCh38]
Chr14:103390130 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+20del deletion Imerslund-Grasbeck syndrome [RCV003506567] Chr14:102930508 [GRCh38]
Chr14:103396845 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.43+9G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506483] Chr14:102922740 [GRCh38]
Chr14:103389077 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-13C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003877329] Chr14:102930152 [GRCh38]
Chr14:103396489 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.196G>A (p.Val66Ile) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506673] Chr14:102923968 [GRCh38]
Chr14:103390305 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.456G>A (p.Val152=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506736] Chr14:102928918 [GRCh38]
Chr14:103395255 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.387C>T (p.Phe129=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003876691] Chr14:102928849 [GRCh38]
Chr14:103395186 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1296C>T (p.Ala432=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506390] Chr14:102930614 [GRCh38]
Chr14:103396951 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1137G>A (p.Ala379=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506457] Chr14:102930295 [GRCh38]
Chr14:103396632 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.163-13C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003830414] Chr14:102923922 [GRCh38]
Chr14:103390259 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.888C>G (p.Arg296=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506721] Chr14:102929968 [GRCh38]
Chr14:103396305 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-9C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506740] Chr14:102930156 [GRCh38]
Chr14:103396493 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.651+15A>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003879486] Chr14:102929273 [GRCh38]
Chr14:103395610 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.46C>T (p.Leu16=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003875770] Chr14:102923713 [GRCh38]
Chr14:103390050 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+36_1007-34dup duplication Imerslund-Grasbeck syndrome [RCV003506362] Chr14:102930117..102930118 [GRCh38]
Chr14:103396454..103396455 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+17G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506435] Chr14:102928530 [GRCh38]
Chr14:103394867 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.282G>A (p.Leu94=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506466] Chr14:102928500 [GRCh38]
Chr14:103394837 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.44-2A>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506501] Chr14:102923709 [GRCh38]
Chr14:103390046 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1170-12C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506731] Chr14:102930394 [GRCh38]
Chr14:103396731 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1098G>A (p.Ala366=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506364] Chr14:102930256 [GRCh38]
Chr14:103396593 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.296-11C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506642] Chr14:102928747 [GRCh38]
Chr14:103395084 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+7G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506450] Chr14:102930500 [GRCh38]
Chr14:103396837 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1218C>T (p.Phe406=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506410] Chr14:102930454 [GRCh38]
Chr14:103396791 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.954A>G (p.Thr318=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506499] Chr14:102930034 [GRCh38]
Chr14:103396371 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+7C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506504] Chr14:102928520 [GRCh38]
Chr14:103394857 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.513+2T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003876057] Chr14:102928977 [GRCh38]
Chr14:103395314 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.514-19G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612458] Chr14:102929102 [GRCh38]
Chr14:103395439 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+13C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611281] Chr14:102929750 [GRCh38]
Chr14:103396087 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1158G>T (p.Ala386=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611352] Chr14:102930316 [GRCh38]
Chr14:103396653 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1020C>T (p.Gly340=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611358] Chr14:102930178 [GRCh38]
Chr14:103396515 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.365A>G (p.Asp122Gly) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611414] Chr14:102928827 [GRCh38]
Chr14:103395164 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1092C>T (p.Gly364=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611371] Chr14:102930250 [GRCh38]
Chr14:103396587 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.429C>T (p.Phe143=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612569] Chr14:102928891 [GRCh38]
Chr14:103395228 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1347C>T (p.Ala449=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612588] Chr14:102930665 [GRCh38]
Chr14:103397002 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611446] Chr14:102930151 [GRCh38]
Chr14:103396488 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-8G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612686] Chr14:102930398 [GRCh38]
Chr14:103396735 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.762A>G (p.Gly254=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612699] Chr14:102929656 [GRCh38]
Chr14:103395993 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.44-6C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611738] Chr14:102923705 [GRCh38]
Chr14:103390042 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+16G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612780] Chr14:102930509 [GRCh38]
Chr14:103396846 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.761-9C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003852543] Chr14:102929646 [GRCh38]
Chr14:103395983 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-15C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611721] Chr14:102930561 [GRCh38]
Chr14:103396898 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+9G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611749] Chr14:102928522 [GRCh38]
Chr14:103394859 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.163-16C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612834] Chr14:102923919 [GRCh38]
Chr14:103390256 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.987G>A (p.Leu329=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612860] Chr14:102930067 [GRCh38]
Chr14:103396404 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.711C>T (p.Ala237=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612909] Chr14:102929487 [GRCh38]
Chr14:103395824 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1338C>T (p.Phe446=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611856] Chr14:102930656 [GRCh38]
Chr14:103396993 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+28G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612951] Chr14:102930114 [GRCh38]
Chr14:103396451 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.44-20C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611913] Chr14:102923691 [GRCh38]
Chr14:103390028 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+8C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003852864] Chr14:102923987 [GRCh38]
Chr14:103390324 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+12C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611940] Chr14:102930098 [GRCh38]
Chr14:103396435 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.219G>A (p.Leu73=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612972] Chr14:102928437 [GRCh38]
Chr14:103394774 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+23_1006+36del deletion Imerslund-Grasbeck syndrome [RCV003613100] Chr14:102930109..102930122 [GRCh38]
Chr14:103396446..103396459 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.135C>T (p.Gly45=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613089] Chr14:102923802 [GRCh38]
Chr14:103390139 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-16C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612031] Chr14:102930390 [GRCh38]
Chr14:103396727 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1278C>T (p.Ser426=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003833290] Chr14:102930596 [GRCh38]
Chr14:103396933 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.618G>C (p.Ala206=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612082] Chr14:102929225 [GRCh38]
Chr14:103395562 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.162+19G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613168] Chr14:102923848 [GRCh38]
Chr14:103390185 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.957C>A (p.Gly319=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613175] Chr14:102930037 [GRCh38]
Chr14:103396374 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1209C>T (p.Pro403=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613173] Chr14:102930445 [GRCh38]
Chr14:103396782 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.78del (p.Asn27fs) deletion Imerslund-Grasbeck syndrome [RCV003612030] Chr14:102923742 [GRCh38]
Chr14:103390079 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.180G>C (p.Val60=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612084] Chr14:102923952 [GRCh38]
Chr14:103390289 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1114dup (p.Ala372fs) duplication Imerslund-Grasbeck syndrome [RCV003613156] Chr14:102930270..102930271 [GRCh38]
Chr14:103396607..103396608 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.510C>A (p.Gly170=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613224] Chr14:102928972 [GRCh38]
Chr14:103395309 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.672G>T (p.Ala224=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612110] Chr14:102929448 [GRCh38]
Chr14:103395785 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-4G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613248] Chr14:102930572 [GRCh38]
Chr14:103396909 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1008C>A (p.Gly336=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613249] Chr14:102930166 [GRCh38]
Chr14:103396503 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613273] Chr14:102930562 [GRCh38]
Chr14:103396899 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.844-17C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613266] Chr14:102929907 [GRCh38]
Chr14:103396244 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1281G>C (p.Leu427=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612167] Chr14:102930599 [GRCh38]
Chr14:103396936 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-29G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612171] Chr14:102930136 [GRCh38]
Chr14:103396473 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.651+12C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613348] Chr14:102929270 [GRCh38]
Chr14:103395607 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+16G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612201] Chr14:102930509 [GRCh38]
Chr14:103396846 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.504T>A (p.Ala168=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612235] Chr14:102928966 [GRCh38]
Chr14:103395303 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.235C>T (p.Leu79=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612302] Chr14:102928453 [GRCh38]
Chr14:103394790 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1206G>T (p.Ala402=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611076] Chr14:102930442 [GRCh38]
Chr14:103396779 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+17G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613506] Chr14:102930510 [GRCh38]
Chr14:103396847 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.375T>C (p.Pro125=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613522] Chr14:102928837 [GRCh38]
Chr14:103395174 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.296-6del deletion Imerslund-Grasbeck syndrome [RCV003613527] Chr14:102928751 [GRCh38]
Chr14:103395088 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1287G>A (p.Pro429=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613511] Chr14:102930605 [GRCh38]
Chr14:103396942 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.163-20G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613524] Chr14:102923915 [GRCh38]
Chr14:103390252 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1182C>T (p.His394=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611177] Chr14:102930418 [GRCh38]
Chr14:103396755 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.162+8G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611201] Chr14:102923837 [GRCh38]
Chr14:103390174 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.597C>T (p.Ser199=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612352] Chr14:102929204 [GRCh38]
Chr14:103395541 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611415] Chr14:102930628 [GRCh38]
Chr14:103396965 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.760+16G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611436] Chr14:102929552 [GRCh38]
Chr14:103395889 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+7C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611442] Chr14:102928520 [GRCh38]
Chr14:103394857 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612574] Chr14:102930100 [GRCh38]
Chr14:103396437 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1191G>T (p.Ala397=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613216] Chr14:102930427 [GRCh38]
Chr14:103396764 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.351G>C (p.Leu117=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611471] Chr14:102928813 [GRCh38]
Chr14:103395150 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.775C>T (p.Leu259=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612123] Chr14:102929669 [GRCh38]
Chr14:103396006 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1255dup (p.Leu419fs) duplication Imerslund-Grasbeck syndrome [RCV003612133] Chr14:102930490..102930491 [GRCh38]
Chr14:103396827..103396828 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.153G>T (p.Pro51=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612615] Chr14:102923820 [GRCh38]
Chr14:103390157 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.43+17C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612638] Chr14:102922748 [GRCh38]
Chr14:103389085 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-39C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613256] Chr14:102930126 [GRCh38]
Chr14:103396463 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.43+18C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613261] Chr14:102922749 [GRCh38]
Chr14:103389086 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1177A>C (p.Arg393=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003839687] Chr14:102930413 [GRCh38]
Chr14:103396750 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-11C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003831931] Chr14:102930154 [GRCh38]
Chr14:103396491 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.306C>T (p.Ala102=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613299] Chr14:102928768 [GRCh38]
Chr14:103395105 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.168G>A (p.Val56=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613327] Chr14:102923940 [GRCh38]
Chr14:103390277 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.633C>T (p.Cys211=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613371] Chr14:102929240 [GRCh38]
Chr14:103395577 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.411C>A (p.Cys137Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612234] Chr14:102928873 [GRCh38]
Chr14:103395210 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.525C>T (p.Arg175=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611037] Chr14:102929132 [GRCh38]
Chr14:103395469 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+11C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612258] Chr14:102928524 [GRCh38]
Chr14:103394861 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+13C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612271] Chr14:102929750 [GRCh38]
Chr14:103396087 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.967C>A (p.Arg323=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612823] Chr14:102930047 [GRCh38]
Chr14:103396384 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.516G>C (p.Thr172=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611766] Chr14:102929123 [GRCh38]
Chr14:103395460 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.652-12C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612289] Chr14:102929416 [GRCh38]
Chr14:103395753 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-33G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611129] Chr14:102930132 [GRCh38]
Chr14:103396469 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.381C>G (p.Leu127=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611138] Chr14:102928843 [GRCh38]
Chr14:103395180 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1128G>T (p.Leu376=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611149] Chr14:102930286 [GRCh38]
Chr14:103396623 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1185G>A (p.Glu395=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612337] Chr14:102930421 [GRCh38]
Chr14:103396758 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.378C>T (p.Gly126=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612902] Chr14:102928840 [GRCh38]
Chr14:103395177 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.789C>T (p.Pro263=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612938] Chr14:102929683 [GRCh38]
Chr14:103396020 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+10C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611169] Chr14:102929747 [GRCh38]
Chr14:103396084 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1317T>C (p.Ser439=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612348] Chr14:102930635 [GRCh38]
Chr14:103396972 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.760+8C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612378] Chr14:102929544 [GRCh38]
Chr14:103395881 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1169+17_1169+36del deletion Imerslund-Grasbeck syndrome [RCV003613533] Chr14:102930339..102930358 [GRCh38]
Chr14:103396676..103396695 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.513+8C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003855033] Chr14:102928983 [GRCh38]
Chr14:103395320 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612983] Chr14:102930306 [GRCh38]
Chr14:103396643 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1104C>T (p.Ala368=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612994] Chr14:102930262 [GRCh38]
Chr14:103396599 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.163-7C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003855129] Chr14:102923928 [GRCh38]
Chr14:103390265 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+33G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611229] Chr14:102930119 [GRCh38]
Chr14:103396456 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.414C>T (p.Arg138=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611894] Chr14:102928876 [GRCh38]
Chr14:103395213 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1108C>T (p.Leu370=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611908] Chr14:102930266 [GRCh38]
Chr14:103396603 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.954A>C (p.Thr318=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611954] Chr14:102930034 [GRCh38]
Chr14:103396371 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.756C>T (p.Leu252=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612476] Chr14:102929532 [GRCh38]
Chr14:103395869 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-9A>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612497] Chr14:102930567 [GRCh38]
Chr14:103396904 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.514-7C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613086] Chr14:102929114 [GRCh38]
Chr14:103395451 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.760+9C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613088] Chr14:102929545 [GRCh38]
Chr14:103395882 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+14G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613094] Chr14:102923993 [GRCh38]
Chr14:103390330 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.816G>A (p.Ala272=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611969] Chr14:102929710 [GRCh38]
Chr14:103396047 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+12C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611977] Chr14:102923991 [GRCh38]
Chr14:103390328 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.514-15C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611987] Chr14:102929106 [GRCh38]
Chr14:103395443 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.761-8C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612518] Chr14:102929647 [GRCh38]
Chr14:103395984 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-7C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613097] Chr14:102930399 [GRCh38]
Chr14:103396736 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1356G>A (p.Glu452=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613099] Chr14:102930674 [GRCh38]
Chr14:103397011 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.280C>T (p.Leu94=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613109] Chr14:102928498 [GRCh38]
Chr14:103394835 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.522G>A (p.Thr174=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611343] Chr14:102929129 [GRCh38]
Chr14:103395466 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.652-14G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612012] Chr14:102929414 [GRCh38]
Chr14:103395751 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+27C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611708] Chr14:102930113 [GRCh38]
Chr14:103396450 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.514-4G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611719] Chr14:102929117 [GRCh38]
Chr14:103395454 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1258-5C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612828] Chr14:102930571 [GRCh38]
Chr14:103396908 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-16G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612831] Chr14:102930149 [GRCh38]
Chr14:103396486 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.844-18C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611757] Chr14:102929906 [GRCh38]
Chr14:103396243 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.545del (p.Phe182fs) deletion Imerslund-Grasbeck syndrome [RCV003612964] Chr14:102929149 [GRCh38]
Chr14:103395486 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.249C>T (p.Ala83=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003832201] Chr14:102928467 [GRCh38]
Chr14:103394804 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.579C>T (p.His193=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611828] Chr14:102929186 [GRCh38]
Chr14:103395523 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1293G>A (p.Ala431=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611874] Chr14:102930611 [GRCh38]
Chr14:103396948 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.761-14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003815996] Chr14:102929641 [GRCh38]
Chr14:103395978 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.441T>C (p.Ser147=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613209] Chr14:102928903 [GRCh38]
Chr14:103395240 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+8G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613229] Chr14:102928521 [GRCh38]
Chr14:103394858 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.43+11A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612094] Chr14:102922742 [GRCh38]
Chr14:103389079 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.972G>A (p.Leu324=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003836502] Chr14:102930052 [GRCh38]
Chr14:103396389 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-30G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612170] Chr14:102930135 [GRCh38]
Chr14:103396472 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1341C>T (p.Ala447=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003817113] Chr14:102930659 [GRCh38]
Chr14:103396996 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.44-15T>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003855856] Chr14:102923696 [GRCh38]
Chr14:103390033 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.295+15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612399] Chr14:102928528 [GRCh38]
Chr14:103394865 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.396C>T (p.Ala132=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611360] Chr14:102928858 [GRCh38]
Chr14:103395195 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1169+19C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612515] Chr14:102930346 [GRCh38]
Chr14:103396683 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.105C>T (p.Asn35=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612524] Chr14:102923772 [GRCh38]
Chr14:103390109 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.138_162+20del deletion Imerslund-Grasbeck syndrome [RCV003611487] Chr14:102923795..102923839 [GRCh38]
Chr14:103390132..103390176 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.249C>A (p.Ala83=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003839835] Chr14:102928467 [GRCh38]
Chr14:103394804 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.693C>T (p.Gly231=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611264] Chr14:102929469 [GRCh38]
Chr14:103395806 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.945G>T (p.Gly315=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612511] Chr14:102930025 [GRCh38]
Chr14:103396362 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1002G>A (p.Glu334=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612426] Chr14:102930082 [GRCh38]
Chr14:103396419 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+9G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612041] Chr14:102930095 [GRCh38]
Chr14:103396432 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.618G>A (p.Ala206=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613147] Chr14:102929225 [GRCh38]
Chr14:103395562 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.798C>T (p.Asp266=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612460] Chr14:102929692 [GRCh38]
Chr14:103396029 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+33G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612549] Chr14:102930119 [GRCh38]
Chr14:103396456 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1039C>A (p.Arg347=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612592] Chr14:102930197 [GRCh38]
Chr14:103396534 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.44-4C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611481] Chr14:102923707 [GRCh38]
Chr14:103390044 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-31_1007-30insCC insertion Imerslund-Grasbeck syndrome [RCV003612169] Chr14:102930134..102930135 [GRCh38]
Chr14:103396471..103396472 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+9dup duplication Imerslund-Grasbeck syndrome [RCV003613301] Chr14:102930497..102930498 [GRCh38]
Chr14:103396834..103396835 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.844-15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613347] Chr14:102929909 [GRCh38]
Chr14:103396246 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.73del (p.Val25fs) deletion Imerslund-Grasbeck syndrome [RCV003611011] Chr14:102923738 [GRCh38]
Chr14:103390075 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.43+17_43+37del deletion Imerslund-Grasbeck syndrome [RCV003613425] Chr14:102922747..102922767 [GRCh38]
Chr14:103389084..103389104 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.732G>A (p.Arg244=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611664] Chr14:102929508 [GRCh38]
Chr14:103395845 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.760+18G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611674] Chr14:102929554 [GRCh38]
Chr14:103395891 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-11C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613438] Chr14:102930154 [GRCh38]
Chr14:103396491 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.723C>T (p.Ser241=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611741] Chr14:102929499 [GRCh38]
Chr14:103395836 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+19G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611769] Chr14:102930512 [GRCh38]
Chr14:103396849 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1347C>G (p.Ala449=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611773] Chr14:102930665 [GRCh38]
Chr14:103397002 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.75C>T (p.Val25=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611811] Chr14:102923742 [GRCh38]
Chr14:103390079 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.651+10G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003837935] Chr14:102929268 [GRCh38]
Chr14:103395605 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.513+19del deletion Imerslund-Grasbeck syndrome [RCV003611880] Chr14:102928992 [GRCh38]
Chr14:103395329 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.240T>C (p.Ala80=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611898] Chr14:102928458 [GRCh38]
Chr14:103394795 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.660G>A (p.Pro220=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611905] Chr14:102929436 [GRCh38]
Chr14:103395773 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.208-18dup duplication Imerslund-Grasbeck syndrome [RCV003613020] Chr14:102928407..102928408 [GRCh38]
Chr14:103394744..103394745 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+18_1006+27del deletion Imerslund-Grasbeck syndrome [RCV003611995] Chr14:102930096..102930105 [GRCh38]
Chr14:103396433..103396442 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.306C>A (p.Ala102=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611401] Chr14:102928768 [GRCh38]
Chr14:103395105 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1077T>A (p.Ala359=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613218] Chr14:102930235 [GRCh38]
Chr14:103396572 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.96C>T (p.Val32=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611456] Chr14:102923763 [GRCh38]
Chr14:103390100 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.43+7C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611485] Chr14:102922738 [GRCh38]
Chr14:103389075 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.333C>T (p.Ser111=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003850928] Chr14:102928795 [GRCh38]
Chr14:103395132 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.652-2A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612217] Chr14:102929426 [GRCh38]
Chr14:103395763 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.162+12C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611030] Chr14:102923841 [GRCh38]
Chr14:103390178 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.591G>T (p.Ala197=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612221] Chr14:102929198 [GRCh38]
Chr14:103395535 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+9G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613408] Chr14:102930095 [GRCh38]
Chr14:103396432 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.651+1G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613424] Chr14:102929259 [GRCh38]
Chr14:103395596 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.75C>A (p.Val25=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612808] Chr14:102923742 [GRCh38]
Chr14:103390079 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1068C>T (p.Ser356=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612811] Chr14:102930226 [GRCh38]
Chr14:103396563 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.831C>T (p.Thr277=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611836] Chr14:102929725 [GRCh38]
Chr14:103396062 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.58del (p.Val20fs) deletion Imerslund-Grasbeck syndrome [RCV003612958] Chr14:102923724 [GRCh38]
Chr14:103390061 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.195C>T (p.Ala65=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611165] Chr14:102923967 [GRCh38]
Chr14:103390304 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-1G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003821766] Chr14:102930405 [GRCh38]
Chr14:103396742 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.690G>A (p.Leu230=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003862842] Chr14:102929466 [GRCh38]
Chr14:103395803 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+1G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003844779] Chr14:102923980 [GRCh38]
Chr14:103390317 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.760+12C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003862411] Chr14:102929548 [GRCh38]
Chr14:103395885 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.357C>T (p.Arg119=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003818826] Chr14:102928819 [GRCh38]
Chr14:103395156 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.890C>A (p.Ser297Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003853573] Chr14:102929970 [GRCh38]
Chr14:103396307 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.43+15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003858291] Chr14:102922746 [GRCh38]
Chr14:103389083 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.153G>C (p.Pro51=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003824276] Chr14:102923820 [GRCh38]
Chr14:103390157 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.651+13G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003852950] Chr14:102929271 [GRCh38]
Chr14:103395608 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.43+16A>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003845015] Chr14:102922747 [GRCh38]
Chr14:103389084 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1029G>A (p.Glu343=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003867427] Chr14:102930187 [GRCh38]
Chr14:103396524 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.915G>A (p.Thr305=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003871523] Chr14:102929995 [GRCh38]
Chr14:103396332 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-30G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003842861] Chr14:102930135 [GRCh38]
Chr14:103396472 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1215C>T (p.Gly405=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003867047] Chr14:102930451 [GRCh38]
Chr14:103396788 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.480C>A (p.Pro160=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003869102] Chr14:102928942 [GRCh38]
Chr14:103395279 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1359C>T (p.Ala453=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003872294] Chr14:102930677 [GRCh38]
Chr14:103397014 [GRCh37]
Chr14:14q32.32		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3 copy number gain not specified [RCV003987047] Chr14:97705251..103682578 [GRCh37]
Chr14:14q32.2-32.32		 uncertain significance
NM_030943.4(AMN):c.627G>A (p.Ser209=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003868377] Chr14:102929234 [GRCh38]
Chr14:103395571 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.129C>T (p.Cys43=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003860882] Chr14:102923796 [GRCh38]
Chr14:103390133 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.555C>T (p.Ser185=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003871237] Chr14:102929162 [GRCh38]
Chr14:103395499 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.513+2del deletion Imerslund-Grasbeck syndrome [RCV003841941] Chr14:102928977 [GRCh38]
Chr14:103395314 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1006+13G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003853239] Chr14:102930099 [GRCh38]
Chr14:103396436 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1299A>G (p.Ala433=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003870120] Chr14:102930617 [GRCh38]
Chr14:103396954 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.514-4G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003843621] Chr14:102929117 [GRCh38]
Chr14:103395454 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1011G>A (p.Glu337=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003870447] Chr14:102930169 [GRCh38]
Chr14:103396506 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1221C>T (p.Arg407=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003847951] Chr14:102930457 [GRCh38]
Chr14:103396794 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1191G>A (p.Ala397=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003854122] Chr14:102930427 [GRCh38]
Chr14:103396764 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1117C>T (p.Leu373=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003848186] Chr14:102930275 [GRCh38]
Chr14:103396612 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.843+15C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003820213] Chr14:102929752 [GRCh38]
Chr14:103396089 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.651+9G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003860614] Chr14:102929267 [GRCh38]
Chr14:103395604 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1158G>C (p.Ala386=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003853343] Chr14:102930316 [GRCh38]
Chr14:103396653 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.207+11G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003865073] Chr14:102923990 [GRCh38]
Chr14:103390327 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1257+20G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003861038] Chr14:102930513 [GRCh38]
Chr14:103396850 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.855C>T (p.His285=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003840888] Chr14:102929935 [GRCh38]
Chr14:103396272 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1170-7C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003820964] Chr14:102930399 [GRCh38]
Chr14:103396736 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.862C>T (p.Gln288Ter) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003863217] Chr14:102929942 [GRCh38]
Chr14:103396279 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.651+16G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003858290] Chr14:102929274 [GRCh38]
Chr14:103395611 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.975C>T (p.Ala325=) single nucleotide variant AMN-related condition [RCV003929370]|Imerslund-Grasbeck syndrome [RCV003853930] Chr14:102930055 [GRCh38]
Chr14:103396392 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1169+10G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003818677] Chr14:102930337 [GRCh38]
Chr14:103396674 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.208-17G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003823320] Chr14:102928409 [GRCh38]
Chr14:103394746 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1065C>T (p.Gly355=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003860199] Chr14:102930223 [GRCh38]
Chr14:103396560 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1239G>T (p.Val413=) single nucleotide variant AMN-related condition [RCV003974237] Chr14:102930475 [GRCh38]
Chr14:103396812 [GRCh37]
Chr14:14q32.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2644
Count of miRNA genes:771
Interacting mature miRNAs:910
Transcripts:ENST00000299155, ENST00000541086, ENST00000558590, ENST00000559442, ENST00000559507, ENST00000559525, ENST00000559789
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.

Markers in Region
AMN_3231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,396,967 - 103,397,629UniSTSGRCh37
Build 3614102,466,720 - 102,467,382RGDNCBI36
Celera1483,451,089 - 83,451,751RGD
HuRef1483,572,002 - 83,572,664UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 661 4 288 265 204 264 167 7 4 233 173 158 3 48 67
Low 628 431 1109 327 950 173 1534 126 797 115 939 1333 163 662 680 1
Below cutoff 1126 2362 304 25 730 23 2385 1829 2846 68 325 109 4 489 1801 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF328788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB306421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299155   ⟹   ENSP00000299155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,922,663 - 102,930,842 (+)Ensembl
RefSeq Acc Id: ENST00000541086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,922,922 - 102,930,841 (+)Ensembl
RefSeq Acc Id: ENST00000558590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,928,645 - 102,933,596 (+)Ensembl
RefSeq Acc Id: ENST00000559442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,928,692 - 102,929,475 (+)Ensembl
RefSeq Acc Id: ENST00000559507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,930,107 - 102,930,619 (+)Ensembl
RefSeq Acc Id: ENST00000559525   ⟹   ENSP00000453786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,928,809 - 102,929,475 (+)Ensembl
RefSeq Acc Id: ENST00000559789   ⟹   ENSP00000452831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,928,830 - 102,930,591 (+)Ensembl
RefSeq Acc Id: NM_030943   ⟹   NP_112205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,922,663 - 102,930,842 (+)NCBI
GRCh3714103,388,993 - 103,397,179 (+)RGD
Build 3614102,458,747 - 102,467,282 (+)NCBI Archive
Celera1483,443,115 - 83,451,301 (+)RGD
HuRef1483,564,008 - 83,572,214 (+)ENTREZGENE
CHM1_114103,326,435 - 103,334,619 (+)NCBI
T2T-CHM13v2.01497,158,908 - 97,167,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537202   ⟹   XP_011535504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,922,663 - 102,930,842 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537203   ⟹   XP_011535505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,923,038 - 102,930,842 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054376773   ⟹   XP_054232748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01497,158,913 - 97,167,087 (+)NCBI
RefSeq Acc Id: XM_054376774   ⟹   XP_054232749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01497,159,016 - 97,167,087 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_112205   ⟸   NM_030943
- Peptide Label: precursor
- UniProtKB: Q6UX83 (UniProtKB/Swiss-Prot),   Q9BXJ7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535504   ⟸   XM_011537202
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011535505   ⟸   XM_011537203
- Peptide Label: isoform X1
- UniProtKB: B3KP64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453786   ⟸   ENST00000559525
RefSeq Acc Id: ENSP00000452831   ⟸   ENST00000559789
RefSeq Acc Id: ENSP00000299155   ⟸   ENST00000299155
RefSeq Acc Id: XP_054232748   ⟸   XM_054376773
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054232749   ⟸   XM_054376774
- Peptide Label: isoform X1
- UniProtKB: B3KP64 (UniProtKB/TrEMBL)
Protein Domains
VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXJ7-F1-model_v2 AlphaFold Q9BXJ7 1-453 view protein structure

Promoters
RGD ID:6791260
Promoter ID:HG_KWN:20303
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000299155,   UC001YMH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3614102,458,366 - 102,459,362 (+)MPROMDB
RGD ID:6810563
Promoter ID:HG_ACW:24643
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:AMN.CAPR07,   AMN.DAPR07,   AMN.EAPR07,   AMN.FAPR07,   AMN.GAPR07-UNSPLICED,   AMN.HAPR07,   LAWDOY.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3614102,464,489 - 102,464,989 (+)MPROMDB
RGD ID:7228687
Promoter ID:EPDNEW_H20089
Type:initiation region
Name:AMN_1
Description:amnion associated transmembrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,922,663 - 102,922,723EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14604 AgrOrtholog
COSMIC AMN COSMIC
Ensembl Genes ENSG00000166126 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299155 ENTREZGENE
  ENST00000299155.10 UniProtKB/Swiss-Prot
  ENST00000541086 ENTREZGENE
  ENST00000559525.1 UniProtKB/TrEMBL
  ENST00000559789.1 UniProtKB/TrEMBL
GTEx ENSG00000166126 GTEx
HGNC ID HGNC:14604 ENTREZGENE
Human Proteome Map AMN Human Proteome Map
InterPro AMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81693 UniProtKB/Swiss-Prot
NCBI Gene 81693 ENTREZGENE
OMIM 605799 OMIM
PANTHER PROTEIN AMNIONLESS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14995 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Amnionless UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134962814 PharmGKB
UniProt AMNLS_HUMAN UniProtKB/Swiss-Prot
  B3KP64 ENTREZGENE, UniProtKB/TrEMBL
  H0YKJ5_HUMAN UniProtKB/TrEMBL
  H0YMX8_HUMAN UniProtKB/TrEMBL
  Q6UX83 ENTREZGENE
  Q9BXJ7 ENTREZGENE
UniProt Secondary Q6UX83 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 AMN  amnion associated transmembrane protein  AMN  amnionless homolog (mouse)  Symbol and/or name change 5135510 APPROVED