TSPEAR (thrombospondin type laminin G domain and EAR repeats) - Rat Genome Database

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Gene: TSPEAR (thrombospondin type laminin G domain and EAR repeats) Homo sapiens
Analyze
Symbol: TSPEAR
Name: thrombospondin type laminin G domain and EAR repeats
RGD ID: 1344496
HGNC Page HGNC:1268
Description: Involved in regulation of Notch signaling pathway and tooth mineralization. Acts upstream of or within sensory perception of sound. Predicted to be located in cell surface and stereocilium. Implicated in autosomal recessive nonsyndromic deafness 98; ectodermal dysplasia 14; and tooth agenesis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C21orf29; DFNB98; ECTD14; MGC11251; STHAG10; thrombospondin-type laminin G domain and EAR repeat-containing protein; thrombospondin-type laminin G domain and EAR repeats; thrombospondin-type laminin G domain and EAR repeats-containing protein; TSP-EAR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,497,893 - 44,711,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,497,893 - 44,711,572 (-)EnsemblGRCh38hg38GRCh38
GRCh372145,917,776 - 46,131,487 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,742,203 - 44,955,923 (-)NCBINCBI36Build 36hg18NCBI36
Build 342144,742,202 - 44,955,923NCBI
Celera2131,025,451 - 31,239,063 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,291,690 - 31,505,530 (-)NCBIHuRef
CHM1_12145,478,651 - 45,692,355 (-)NCBICHM1_1
T2T-CHM13v2.02142,858,376 - 43,072,006 (-)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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. A common protein interaction domain links two recently identified epilepsy genes. Scheel H, etal., Hum Mol Genet 2002 Jul 15;11(15):1757-62.
Additional References at PubMed
PMID:10830953   PMID:12477932   PMID:15489334   PMID:20494980   PMID:21873635   PMID:22678063   PMID:27736875   PMID:28005267   PMID:30046887   PMID:31391242   PMID:32112661   PMID:34042254  
PMID:35741818   PMID:37009414  


Genomics

Comparative Map Data
TSPEAR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,497,893 - 44,711,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,497,893 - 44,711,572 (-)EnsemblGRCh38hg38GRCh38
GRCh372145,917,776 - 46,131,487 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,742,203 - 44,955,923 (-)NCBINCBI36Build 36hg18NCBI36
Build 342144,742,202 - 44,955,923NCBI
Celera2131,025,451 - 31,239,063 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,291,690 - 31,505,530 (-)NCBIHuRef
CHM1_12145,478,651 - 45,692,355 (-)NCBICHM1_1
T2T-CHM13v2.02142,858,376 - 43,072,006 (-)NCBIT2T-CHM13v2.0
Tspear
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391077,521,942 - 77,722,844 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1077,522,403 - 77,722,855 (+)EnsemblGRCm39 Ensembl
GRCm381077,686,108 - 77,886,994 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1077,686,569 - 77,887,021 (+)EnsemblGRCm38mm10GRCm38
MGSCv371077,327,374 - 77,349,766 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361077,232,563 - 77,284,382 (+)NCBIMGSCv36mm8
Celera1078,910,300 - 78,932,793 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Tspear
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82010,771,365 - 10,944,285 (-)NCBIGRCr8
mRatBN7.22010,771,806 - 10,837,419 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2010,772,219 - 10,943,914 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.02011,501,510 - 11,529,210 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2011,501,925 - 11,528,332 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02013,671,403 - 13,691,316 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42011,119,606 - 11,157,499 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2012,277,497 - 12,336,919 (-)NCBICelera
Cytogenetic Map20p12NCBI
Tspear
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540741,513,829 - 41,656,564 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540741,513,538 - 41,566,931 (-)NCBIChiLan1.0ChiLan1.0
TSPEAR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22240,542,321 - 40,756,804 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12135,400,698 - 35,627,703 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02130,791,051 - 31,005,330 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12144,087,591 - 44,299,107 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2144,087,591 - 44,299,041 (-)Ensemblpanpan1.1panPan2
TSPEAR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13138,273,306 - 38,340,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3138,272,592 - 38,337,373 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3137,432,708 - 37,594,663 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03137,820,502 - 37,998,929 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3137,819,776 - 37,998,979 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13137,691,506 - 37,861,710 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03137,670,014 - 37,822,764 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03138,167,365 - 38,337,899 (-)NCBIUU_Cfam_GSD_1.0
Tspear
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497137,469,464 - 37,652,264 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367781,478,617 - 1,660,331 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367781,576,580 - 1,660,344 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSPEAR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13207,285,886 - 207,412,511 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113207,285,878 - 207,412,523 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213217,144,300 - 217,164,738 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219967
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1288,219,663 - 88,425,531 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl288,221,529 - 88,287,701 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605416,345,661 - 16,372,985 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tspear
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474530,183,218 - 30,232,182 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474530,186,498 - 30,232,200 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TSPEAR
694 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_144991.3(TSPEAR):c.607C>T (p.Arg203Trp) single nucleotide variant not provided [RCV001664960] Chr21:44531069 [GRCh38]
Chr21:45950952 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1728del (p.Lys577fs) deletion Autosomal recessive nonsyndromic hearing loss 98 [RCV000030851]|Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis [RCV000721118]|Tooth agenesis, selective, 10 [RCV002470723] Chr21:44509225 [GRCh38]
Chr21:45929108 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002289998]|not provided [RCV000729029] Chr21:44522026 [GRCh38]
Chr21:45941909 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.400C>T (p.Arg134Cys) single nucleotide variant Inborn genetic diseases [RCV002533095]|not provided [RCV000728670] Chr21:44533827 [GRCh38]
Chr21:45953710 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_198691.2(KRTAP10-1):c.87C>T (p.Pro29=) single nucleotide variant Malignant melanoma [RCV000072870] Chr21:44540064 [GRCh38]
Chr21:45959947 [GRCh37]
Chr21:44784375 [NCBI36]
Chr21:21q22.3		 not provided
NM_144991.2(TSPEAR):c.1260C>T (p.Ala420=) single nucleotide variant Malignant melanoma [RCV000063849] Chr21:44525729 [GRCh38]
Chr21:45945612 [GRCh37]
Chr21:44770040 [NCBI36]
Chr21:21q22.3		 not provided
NM_144991.2(TSPEAR):c.1259C>T (p.Ala420Val) single nucleotide variant Malignant melanoma [RCV000063850] Chr21:44525730 [GRCh38]
Chr21:45945613 [GRCh37]
Chr21:44770041 [NCBI36]
Chr21:21q22.3		 not provided
NM_144991.2(TSPEAR):c.1138A>G (p.Ile380Val) single nucleotide variant Malignant melanoma [RCV000063851] Chr21:44527303 [GRCh38]
Chr21:45947186 [GRCh37]
Chr21:44771614 [NCBI36]
Chr21:21q22.3		 not provided
NM_198691.2(KRTAP10-1):c.463A>T (p.Thr155Ser) single nucleotide variant Malignant melanoma [RCV000063852] Chr21:44539688 [GRCh38]
Chr21:45959571 [GRCh37]
Chr21:44783999 [NCBI36]
Chr21:21q22.3		 not provided
NM_198696.2(KRTAP10-3):c.87C>T (p.Pro29=) single nucleotide variant Malignant melanoma [RCV000063853] Chr21:44558629 [GRCh38]
Chr21:45978512 [GRCh37]
Chr21:44802940 [NCBI36]
Chr21:21q22.3		 not provided
NM_144991.2(TSPEAR):c.225G>A (p.Arg75=) single nucleotide variant Malignant melanoma [RCV000063854] Chr21:44567863 [GRCh38]
Chr21:45987747 [GRCh37]
Chr21:44812175 [NCBI36]
Chr21:21q22.3		 not provided
NM_181686.1(KRTAP12-1):c.257G>A (p.Arg86Lys) single nucleotide variant Malignant melanoma [RCV000063855] Chr21:44681867 [GRCh38]
Chr21:46101782 [GRCh37]
Chr21:44926210 [NCBI36]
Chr21:21q22.3		 not provided
NM_181686.1(KRTAP12-1):c.79C>T (p.Pro27Ser) single nucleotide variant Malignant melanoma [RCV000063856] Chr21:44682045 [GRCh38]
Chr21:46101960 [GRCh37]
Chr21:44926388 [NCBI36]
Chr21:21q22.3		 not provided
NM_181688.2(KRTAP10-10):c.699C>T (p.Pro233=) single nucleotide variant Malignant melanoma [RCV000072874] Chr21:44638116 [GRCh38]
Chr21:46058033 [GRCh37]
Chr21:44882461 [NCBI36]
Chr21:21q22.3		 not provided
NM_198691.2(KRTAP10-1):c.86C>A (p.Pro29His) single nucleotide variant Malignant melanoma [RCV000072871] Chr21:44540065 [GRCh38]
Chr21:45959948 [GRCh37]
Chr21:44784376 [NCBI36]
Chr21:21q22.3		 not provided
NM_144991.2(TSPEAR):c.304-16852C>T single nucleotide variant Malignant melanoma [RCV000072872] Chr21:44550775 [GRCh38]
Chr21:45970658 [GRCh37]
Chr21:44795086 [NCBI36]
Chr21:21q22.3		 not provided
NM_198687.2(KRTAP10-4):c.929C>T (p.Ser310Phe) single nucleotide variant Malignant melanoma [RCV000072873] Chr21:44574687 [GRCh38]
Chr21:45994564 [GRCh37]
Chr21:44818992 [NCBI36]
Chr21:21q22.3		 not provided
NM_144991.3(TSPEAR):c.900C>T (p.Asn300=) single nucleotide variant not provided [RCV000907778]|not specified [RCV000602575] Chr21:44528474 [GRCh38]
Chr21:45948357 [GRCh37]
Chr21:21q22.3		 benign|likely benign
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1 copy number loss See cases [RCV000137922] Chr21:44502542..44720113 [GRCh38]
Chr21:44746853..44964456 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3 copy number gain See cases [RCV000138939] Chr21:44576109..45204790 [GRCh38]
Chr21:45995986..46624705 [GRCh37]
Chr21:44820414..45449133 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1 copy number loss See cases [RCV000142218] Chr21:44516679..45409275 [GRCh38]
Chr21:45936562..46829190 [GRCh37]
Chr21:44760990..45653618 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1336+77G>C single nucleotide variant not provided [RCV001571048] Chr21:44525576 [GRCh38]
Chr21:45945459 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 copy number loss See cases [RCV000240216] Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.303+9076A>G single nucleotide variant Breast ductal adenocarcinoma [RCV000207142]|Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV003491963] Chr21:44558709 [GRCh38]
Chr21:45978592 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_144991.3(TSPEAR):c.791-14G>C single nucleotide variant not provided [RCV002057180]|not specified [RCV000221773] Chr21:44528597 [GRCh38]
Chr21:45948480 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met) single nucleotide variant not provided [RCV002517516]|not specified [RCV000221849] Chr21:44527498 [GRCh38]
Chr21:45947381 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.81A>C (p.Thr27=) single nucleotide variant not specified [RCV000215417] Chr21:44711434 [GRCh38]
Chr21:46131349 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.552T>C (p.Asp184=) single nucleotide variant not provided [RCV000962847]|not specified [RCV000222034] Chr21:44531124 [GRCh38]
Chr21:45951007 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) single nucleotide variant TSPEAR-related condition [RCV003937815]|not provided [RCV000974664]|not specified [RCV000217285] Chr21:44567918 [GRCh38]
Chr21:45987802 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_144991.3(TSPEAR):c.542+15G>A single nucleotide variant not provided [RCV000509308]|not specified [RCV000213260] Chr21:44533670 [GRCh38]
Chr21:45953553 [GRCh37]
Chr21:21q22.3		 likely benign|not provided
NM_144991.3(TSPEAR):c.608G>A (p.Arg203Gln) single nucleotide variant Inborn genetic diseases [RCV003165548]|not provided [RCV002282049]|not specified [RCV000217439] Chr21:44531068 [GRCh38]
Chr21:45950951 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1925C>G (p.Ala642Gly) single nucleotide variant not specified [RCV000219882] Chr21:44499868 [GRCh38]
Chr21:45919751 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) single nucleotide variant TSPEAR-related condition [RCV003955279]|not provided [RCV001311576]|not specified [RCV000222298] Chr21:44533809 [GRCh38]
Chr21:45953692 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) single nucleotide variant Inborn genetic diseases [RCV004020641]|not provided [RCV000733590]|not specified [RCV000213346] Chr21:44533808 [GRCh38]
Chr21:45953691 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.1856+13C>T single nucleotide variant not specified [RCV000219986] Chr21:44504767 [GRCh38]
Chr21:45924650 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.542+14C>T single nucleotide variant not provided [RCV001552984]|not specified [RCV000217747] Chr21:44533671 [GRCh38]
Chr21:45953554 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.534G>A (p.Pro178=) single nucleotide variant not provided [RCV000967577]|not specified [RCV000213698] Chr21:44533693 [GRCh38]
Chr21:45953576 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_144991.3(TSPEAR):c.1937C>T (p.Thr646Met) single nucleotide variant Inborn genetic diseases [RCV002518221]|not provided [RCV002518222]|not specified [RCV000213716] Chr21:44499856 [GRCh38]
Chr21:45919739 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001731441]|TSPEAR-related condition [RCV003919877]|not provided [RCV000964563]|not specified [RCV000220215] Chr21:44711471 [GRCh38]
Chr21:46131386 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.1779G>A (p.Ser593=) single nucleotide variant not provided [RCV000968414]|not specified [RCV000220266] Chr21:44504857 [GRCh38]
Chr21:45924740 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=) single nucleotide variant not provided [RCV001853493]|not specified [RCV000220283] Chr21:44525654 [GRCh38]
Chr21:45945537 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.337G>A (p.Glu113Lys) single nucleotide variant Inborn genetic diseases [RCV002517515]|TSPEAR-related condition [RCV003967585]|not provided [RCV000973265]|not specified [RCV000217951] Chr21:44533890 [GRCh38]
Chr21:45953773 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001270088]|not provided [RCV001569443]|not specified [RCV000218026] Chr21:44533863 [GRCh38]
Chr21:45953746 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.1786G>A (p.Glu596Lys) single nucleotide variant not specified [RCV000213956] Chr21:44504850 [GRCh38]
Chr21:45924733 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1836G>T (p.Ser612=) single nucleotide variant not provided [RCV000883575]|not specified [RCV000214014] Chr21:44504800 [GRCh38]
Chr21:45924683 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1524C>T (p.Tyr508=) single nucleotide variant not provided [RCV002517514]|not specified [RCV000214059] Chr21:44521925 [GRCh38]
Chr21:45941808 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.714G>A (p.Ala238=) single nucleotide variant TSPEAR-related condition [RCV003955265]|not provided [RCV000843460]|not specified [RCV000218175] Chr21:44529874 [GRCh38]
Chr21:45949757 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.1224C>G (p.His408Gln) single nucleotide variant not provided [RCV000993358]|not specified [RCV000220567] Chr21:44525765 [GRCh38]
Chr21:45945648 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001335431]|Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV000721121]|Inborn genetic diseases [RCV001267478]|TSPEAR-related condition [RCV003977608]|Tooth agenesis, selective, 10 [RCV002470820]|not provided [RCV000844249]|not specified [RCV000218316] Chr21:44499878 [GRCh38]
Chr21:45919761 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.1644C>T (p.Tyr548=) single nucleotide variant not provided [RCV000953618]|not specified [RCV000214238] Chr21:44509309 [GRCh38]
Chr21:45929192 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.306G>A (p.Arg102=) single nucleotide variant not specified [RCV000214273] Chr21:44533921 [GRCh38]
Chr21:45953804 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV002494562]|TSPEAR-related condition [RCV003937843]|not provided [RCV000897414]|not specified [RCV000216108] Chr21:44521934 [GRCh38]
Chr21:45941817 [GRCh37]
Chr21:21q22.3		 likely benign
chr21:45970718..47545826 complex variant complex Breast ductal adenocarcinoma [RCV000207279] Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=) single nucleotide variant TSPEAR-related condition [RCV003929882]|not provided [RCV000886149]|not specified [RCV000214464] Chr21:44529886 [GRCh38]
Chr21:45949769 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) single nucleotide variant TSPEAR-related condition [RCV003929900]|not provided [RCV000730688]|not specified [RCV000220995] Chr21:44567937 [GRCh38]
Chr21:45987821 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) single nucleotide variant TSPEAR-related condition [RCV003907819]|not provided [RCV000841003]|not specified [RCV000216321] Chr21:44567919 [GRCh38]
Chr21:45987803 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity
NM_144991.3(TSPEAR):c.51C>T (p.Gly17=) single nucleotide variant not provided [RCV000840105]|not specified [RCV000221357] Chr21:44711464 [GRCh38]
Chr21:46131379 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.1338C>A (p.Gly446=) single nucleotide variant not specified [RCV000223011] Chr21:44522111 [GRCh38]
Chr21:45941994 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1079A>G (p.Lys360Arg) single nucleotide variant not specified [RCV000223103] Chr21:44527362 [GRCh38]
Chr21:45947245 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.131C>T (p.Ala44Val) single nucleotide variant Inborn genetic diseases [RCV004020640]|not provided [RCV001853492]|not specified [RCV000216814] Chr21:44567957 [GRCh38]
Chr21:45987841 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1864G>A (p.Gly622Ser) single nucleotide variant not specified [RCV000216912] Chr21:44499929 [GRCh38]
Chr21:45919812 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.107A>C (p.Asp36Ala) single nucleotide variant not provided [RCV000224606] Chr21:44592378 [GRCh38]
Chr21:46012259 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.304-12C>T single nucleotide variant not provided [RCV001653944]|not specified [RCV000604908] Chr21:44533935 [GRCh38]
Chr21:45953818 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.1373G>A (p.Trp458Ter) single nucleotide variant not provided [RCV000262845] Chr21:44522076 [GRCh38]
Chr21:45941959 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del) microsatellite Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002283873]|not provided [RCV003101631] Chr21:44504846..44504848 [GRCh38]
Chr21:45924729..45924731 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.1317G>A (p.Ala439=) single nucleotide variant not provided [RCV002529705]|not specified [RCV000603153] Chr21:44525672 [GRCh38]
Chr21:45945555 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.620C>T (p.Ser207Leu) single nucleotide variant not specified [RCV004291922] Chr21:44574378 [GRCh38]
Chr21:45994255 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter) single nucleotide variant not provided [RCV000584836] Chr21:44499923 [GRCh38]
Chr21:45919806 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.583G>A (p.Gly195Arg) single nucleotide variant not provided [RCV000733014] Chr21:44531093 [GRCh38]
Chr21:45950976 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1054G>A (p.Ala352Thr) single nucleotide variant not provided [RCV000731197] Chr21:44527387 [GRCh38]
Chr21:45947270 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002470965]|not provided [RCV000733208] Chr21:44509199 [GRCh38]
Chr21:45929082 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.942C>G (p.Tyr314Ter) single nucleotide variant not provided [RCV000729286] Chr21:44527499 [GRCh38]
Chr21:45947382 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV002493313]|not provided [RCV000729287] Chr21:44521980 [GRCh38]
Chr21:45941863 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.3(chr21:45995986-46137118)x1 copy number loss See cases [RCV000449273] Chr21:45995986..46137118 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233)x1 copy number loss See cases [RCV000447458] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198689.3(KRTAP10-7):c.46G>A (p.Gly16Ser) single nucleotide variant not provided [RCV000429249] Chr21:44600667 [GRCh38]
Chr21:46020567 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.22G>A (p.Val8Ile) single nucleotide variant not provided [RCV000430200] Chr21:44540129 [GRCh38]
Chr21:45960012 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181688.3(KRTAP10-10):c.248A>C (p.Asp83Ala) single nucleotide variant not provided [RCV000432141] Chr21:44637665 [GRCh38]
Chr21:46057582 [GRCh37]
Chr21:21q22.3		 benign
NM_181688.3(KRTAP10-10):c.302T>A (p.Val101Glu) single nucleotide variant not provided [RCV000438143] Chr21:44637719 [GRCh38]
Chr21:46057636 [GRCh37]
Chr21:21q22.3		 benign
NM_181688.3(KRTAP10-10):c.710G>A (p.Arg237His) single nucleotide variant not provided [RCV000438259] Chr21:44638127 [GRCh38]
Chr21:46058044 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.355T>C (p.Cys119Arg) single nucleotide variant not provided [RCV000442272] Chr21:44574113 [GRCh38]
Chr21:45993990 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44891717-46043454)x1 copy number loss See cases [RCV000448917] Chr21:44891717..46043454 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002289583]|Inborn genetic diseases [RCV001266951]|TSPEAR-related condition [RCV003418147]|TSPEAR-related disorder of tooth and hair follicle morphogenesis [RCV000708577]|not provided [RCV000760528]|not specified [RCV000455938] Chr21:44531087 [GRCh38]
Chr21:45950970 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_181688.3(KRTAP10-10):c.300T>C (p.Cys100=) single nucleotide variant not specified [RCV000456088] Chr21:44637717 [GRCh38]
Chr21:46057634 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.112C>T (p.Pro38Ser) single nucleotide variant not specified [RCV004314936] Chr21:44592373 [GRCh38]
Chr21:46012254 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.35C>T (p.Ala12Val) single nucleotide variant not specified [RCV004297943] Chr21:44580544 [GRCh38]
Chr21:46000421 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.1021G>C (p.Val341Leu) single nucleotide variant not specified [RCV004316617] Chr21:44591464 [GRCh38]
Chr21:46011345 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.820G>A (p.Val274Ile) single nucleotide variant not specified [RCV004310056] Chr21:44591665 [GRCh38]
Chr21:46011546 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1566+12C>T single nucleotide variant not provided [RCV001597183]|not specified [RCV000601842] Chr21:44521871 [GRCh38]
Chr21:45941754 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_198696.3(KRTAP10-3):c.316A>G (p.Lys106Glu) single nucleotide variant not specified [RCV004312853] Chr21:44558400 [GRCh38]
Chr21:45978283 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1746C>T (p.Leu582=) single nucleotide variant not provided [RCV000910704]|not specified [RCV000607373] Chr21:44509207 [GRCh38]
Chr21:45929090 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_198696.3(KRTAP10-3):c.547A>T (p.Thr183Ser) single nucleotide variant not specified [RCV004332229] Chr21:44558169 [GRCh38]
Chr21:45978052 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1690G>A (p.Val564Ile) single nucleotide variant not provided [RCV001731806]|not specified [RCV000600814] Chr21:44509263 [GRCh38]
Chr21:45929146 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.43G>A (p.Asp15Asn) single nucleotide variant not specified [RCV004294252] Chr21:44646501 [GRCh38]
Chr21:46066418 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1107G>A (p.Thr369=) single nucleotide variant TSPEAR-related condition [RCV003962739]|not provided [RCV000913037]|not specified [RCV000601230] Chr21:44527334 [GRCh38]
Chr21:45947217 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.539A>T (p.Asp180Val) single nucleotide variant Inborn genetic diseases [RCV003246301]|not provided [RCV003779929] Chr21:44533688 [GRCh38]
Chr21:45953571 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.317A>T (p.Lys106Met) single nucleotide variant not specified [RCV004312854] Chr21:44558399 [GRCh38]
Chr21:45978282 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1878C>T (p.Phe626=) single nucleotide variant not provided [RCV000902796]|not specified [RCV000601395] Chr21:44499915 [GRCh38]
Chr21:45919798 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1372T>C (p.Trp458Arg) single nucleotide variant not provided [RCV003318083] Chr21:44522077 [GRCh38]
Chr21:45941960 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1754+7G>A single nucleotide variant not provided [RCV001565721]|not specified [RCV000607341] Chr21:44509192 [GRCh38]
Chr21:45929075 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198689.3(KRTAP10-7):c.139T>A (p.Cys47Ser) single nucleotide variant not specified [RCV004329198] Chr21:44600760 [GRCh38]
Chr21:46020675 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.125G>C (p.Cys42Ser) single nucleotide variant not specified [RCV004325740] Chr21:44558591 [GRCh38]
Chr21:45978474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.539C>T (p.Thr180Ile) single nucleotide variant not specified [RCV004325742] Chr21:44637956 [GRCh38]
Chr21:46057873 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.488G>A (p.Arg163His) single nucleotide variant not specified [RCV004312324] Chr21:44558228 [GRCh38]
Chr21:45978111 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.383G>A (p.Arg128Gln) single nucleotide variant not specified [RCV004281677] Chr21:44646841 [GRCh38]
Chr21:46066758 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1039C>A (p.Arg347Ser) single nucleotide variant Inborn genetic diseases [RCV003258889]|TSPEAR-related condition [RCV003953071]|not provided [RCV001719034] Chr21:44527402 [GRCh38]
Chr21:45947285 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV002506452]|Inborn genetic diseases [RCV003352937]|not provided [RCV002529321]|not specified [RCV000612197] Chr21:44509256 [GRCh38]
Chr21:45929139 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.265A>G (p.Ile89Val) single nucleotide variant Inborn genetic diseases [RCV003280700] Chr21:44567823 [GRCh38]
Chr21:45987707 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1185G>T (p.Glu395Asp) single nucleotide variant not provided [RCV001779023]|not specified [RCV000601465] Chr21:44525804 [GRCh38]
Chr21:45945687 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1024C>A (p.Gln342Lys) single nucleotide variant not specified [RCV004303628] Chr21:44574782 [GRCh38]
Chr21:45994659 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.271G>A (p.Val91Ile) single nucleotide variant not specified [RCV000615304] Chr21:44567817 [GRCh38]
Chr21:45987701 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002470929]|Inborn genetic diseases [RCV001265889]|Tooth agenesis, selective, 10 [RCV002470930]|not provided [RCV002529302]|not specified [RCV000612980] Chr21:44521921 [GRCh38]
Chr21:45941804 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) single nucleotide variant not provided [RCV003767454]|not specified [RCV000616190] Chr21:44528572 [GRCh38]
Chr21:45948455 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV002248816]|not specified [RCV000613093] Chr21:44711474 [GRCh38]
Chr21:46131389 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.673G>A (p.Ala225Thr) single nucleotide variant Inborn genetic diseases [RCV002529303]|not provided [RCV001785681]|not specified [RCV000607516] Chr21:44529915 [GRCh38]
Chr21:45949798 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1698C>T (p.Tyr566=) single nucleotide variant not provided [RCV000841383]|not specified [RCV000613317] Chr21:44509255 [GRCh38]
Chr21:45929138 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1151T>C (p.Ile384Thr) single nucleotide variant Inborn genetic diseases [RCV003279458] Chr21:44525838 [GRCh38]
Chr21:45945721 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.634-7T>C single nucleotide variant TSPEAR-related condition [RCV003945505]|not provided [RCV001718965] Chr21:44529961 [GRCh38]
Chr21:45949844 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1493G>A (p.Gly498Asp) single nucleotide variant not specified [RCV000608046] Chr21:44521956 [GRCh38]
Chr21:45941839 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1500C>T (p.Ser500=) single nucleotide variant not provided [RCV001722548]|not specified [RCV000610719] Chr21:44521949 [GRCh38]
Chr21:45941832 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.942C>T (p.Tyr314=) single nucleotide variant not provided [RCV002529293]|not specified [RCV000614010] Chr21:44527499 [GRCh38]
Chr21:45947382 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) single nucleotide variant TSPEAR-related condition [RCV003905569]|not provided [RCV001619807]|not specified [RCV000608553] Chr21:44533816 [GRCh38]
Chr21:45953699 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) single nucleotide variant TSPEAR-related condition [RCV003935637]|not provided [RCV000732599]|not specified [RCV000608603] Chr21:44533884 [GRCh38]
Chr21:45953767 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.138C>T (p.Ser46=) single nucleotide variant not provided [RCV000901501]|not specified [RCV000608906] Chr21:44567950 [GRCh38]
Chr21:45987834 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1372T>G (p.Trp458Gly) single nucleotide variant not specified [RCV000612039] Chr21:44522077 [GRCh38]
Chr21:45941960 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.102C>T (p.Ile34=) single nucleotide variant not provided [RCV000594559] Chr21:44567986 [GRCh38]
Chr21:45987870 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_45629566)_(46330717_?)dup duplication Polyglandular autoimmune syndrome, type 1 [RCV000633454] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1566+5G>A single nucleotide variant not provided [RCV001545042]|not specified [RCV000606986] Chr21:44521878 [GRCh38]
Chr21:45941761 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) indel Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV001331740]|TSPEAR-related disorder of tooth and hair follicle morphogenesis [RCV000708576]|not provided [RCV002532884] Chr21:44509225..44509227 [GRCh38]
Chr21:45929108..45929110 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.467G>A (p.Arg156His) single nucleotide variant not provided [RCV001567530] Chr21:44533760 [GRCh38]
Chr21:45953643 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.454_457del (p.Leu152fs) deletion Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis [RCV000721119] Chr21:44533770..44533773 [GRCh38]
Chr21:45953653..45953656 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV000721120] Chr21:44504784 [GRCh38]
Chr21:45924667 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1493del (p.Gly498fs) deletion not provided [RCV001547736] Chr21:44521956 [GRCh38]
Chr21:45941839 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1493_1494delinsTG (p.Gly498Val) indel not provided [RCV001547888] Chr21:44521955..44521956 [GRCh38]
Chr21:45941838..45941839 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_144991.3(TSPEAR):c.*50C>A single nucleotide variant not provided [RCV001541393] Chr21:44499733 [GRCh38]
Chr21:45919616 [GRCh37]
Chr21:21q22.3		 likely benign
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45821582-47383056)x1 copy number loss not provided [RCV000741633] Chr21:45821582..47383056 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_144991.3(TSPEAR):c.923-17A>G single nucleotide variant not provided [RCV001690959] Chr21:44527535 [GRCh38]
Chr21:45947418 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.791-163G>A single nucleotide variant not provided [RCV001690318] Chr21:44528746 [GRCh38]
Chr21:45948629 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.731G>A (p.Arg244Gln) single nucleotide variant not provided [RCV000916259] Chr21:44529857 [GRCh38]
Chr21:45949740 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1856+2T>C single nucleotide variant not provided [RCV001565849] Chr21:44504778 [GRCh38]
Chr21:45924661 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.82+30G>A single nucleotide variant not provided [RCV001535368] Chr21:44711403 [GRCh38]
Chr21:46131318 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.44711841T>C single nucleotide variant not provided [RCV001568046] Chr21:44711841 [GRCh38]
Chr21:46131756 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1149+217C>T single nucleotide variant not provided [RCV001569025] Chr21:44527075 [GRCh38]
Chr21:45946958 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1856+35C>A single nucleotide variant not provided [RCV001545801] Chr21:44504745 [GRCh38]
Chr21:45924628 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.82+231C>T single nucleotide variant not provided [RCV001576170] Chr21:44711202 [GRCh38]
Chr21:46131117 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.303+90G>A single nucleotide variant not provided [RCV001583327] Chr21:44567695 [GRCh38]
Chr21:45987579 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.431G>A (p.Arg144Gln) single nucleotide variant not provided [RCV000906775] Chr21:44533796 [GRCh38]
Chr21:45953679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1057G>A (p.Val353Ile) single nucleotide variant Inborn genetic diseases [RCV003243365]|TSPEAR-related condition [RCV003920778]|not provided [RCV000892207] Chr21:44527384 [GRCh38]
Chr21:45947267 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1002C>T (p.Arg334=) single nucleotide variant not provided [RCV000928149] Chr21:44527439 [GRCh38]
Chr21:45947322 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.57C>T (p.Gly19=) single nucleotide variant TSPEAR-related condition [RCV003933141]|not provided [RCV000926148] Chr21:44711458 [GRCh38]
Chr21:46131373 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.525C>T (p.Cys175=) single nucleotide variant not provided [RCV000983506] Chr21:44533702 [GRCh38]
Chr21:45953585 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_45725202)_(46131429_?)dup duplication not provided [RCV001033805] Chr21:45725202..46131429 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1380G>A (p.Pro460=) single nucleotide variant not provided [RCV000916833] Chr21:44522069 [GRCh38]
Chr21:45941952 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198696.3(KRTAP10-3):c.541G>A (p.Ala181Thr) single nucleotide variant not specified [RCV004284130] Chr21:44558175 [GRCh38]
Chr21:45978058 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1514C>T (p.Ser505Leu) single nucleotide variant Inborn genetic diseases [RCV003248085]|not provided [RCV003779880] Chr21:44521935 [GRCh38]
Chr21:45941818 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.22G>A (p.Val8Ile) single nucleotide variant not specified [RCV004284450] Chr21:44646480 [GRCh38]
Chr21:46066397 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.493G>A (p.Val165Met) single nucleotide variant not specified [RCV004332094] Chr21:44558223 [GRCh38]
Chr21:45978106 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.768C>T (p.Asn256=) single nucleotide variant not provided [RCV000841211] Chr21:44529820 [GRCh38]
Chr21:45949703 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1387C>T (p.Arg463Trp) single nucleotide variant not provided [RCV000826315] Chr21:44522062 [GRCh38]
Chr21:45941945 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.576A>G (p.Ser192=) single nucleotide variant not provided [RCV000840672] Chr21:44531100 [GRCh38]
Chr21:45950983 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.1337-31C>T single nucleotide variant not provided [RCV000843469] Chr21:44522143 [GRCh38]
Chr21:45942026 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.793T>G (p.Ser265Ala) single nucleotide variant not specified [RCV004295716] Chr21:44647251 [GRCh38]
Chr21:46067168 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) single nucleotide variant not provided [RCV000844365] Chr21:44529920 [GRCh38]
Chr21:45949803 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity
NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV000844976]|not provided [RCV001858448] Chr21:44509278 [GRCh38]
Chr21:45929161 [GRCh37]
Chr21:21q22.3		 uncertain significance|not provided
NM_144991.3(TSPEAR):c.450G>A (p.Pro150=) single nucleotide variant not provided [RCV000842415] Chr21:44533777 [GRCh38]
Chr21:45953660 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.711G>C (p.Leu237=) single nucleotide variant not provided [RCV000938150] Chr21:44529877 [GRCh38]
Chr21:45949760 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1330C>T (p.Arg444Trp) single nucleotide variant Tooth agenesis, selective, 10 [RCV002471006]|not provided [RCV000993359] Chr21:44525659 [GRCh38]
Chr21:45945542 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:45992953-46151301)x1 copy number loss not provided [RCV000846612] Chr21:45992953..46151301 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45966645-46077563)x1 copy number loss not provided [RCV000845683] Chr21:45966645..46077563 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.394G>T (p.Val132Leu) single nucleotide variant not provided [RCV003312550] Chr21:44612494 [GRCh38]
Chr21:46032411 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.346G>A (p.Val116Met) single nucleotide variant not specified [RCV004308423] Chr21:44646804 [GRCh38]
Chr21:46066721 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.616C>T (p.Leu206Phe) single nucleotide variant not specified [RCV004286350] Chr21:44558100 [GRCh38]
Chr21:45977983 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1676_1677del (p.Tyr559fs) deletion Inborn genetic diseases [RCV001266952]|not provided [RCV001008147] Chr21:44509276..44509277 [GRCh38]
Chr21:45929159..45929160 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_144991.3(TSPEAR):c.922G>A (p.Ala308Thr) single nucleotide variant not provided [RCV003231947] Chr21:44528452 [GRCh38]
Chr21:45948335 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.634T>C (p.Ser212Pro) single nucleotide variant not specified [RCV004319191] Chr21:44638051 [GRCh38]
Chr21:46057968 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198695.2(KRTAP10-8):c.701C>A (p.Ser234Tyr) single nucleotide variant not specified [RCV004303814] Chr21:44612801 [GRCh38]
Chr21:46032718 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.82+198A>G single nucleotide variant not provided [RCV001550895] Chr21:44711235 [GRCh38]
Chr21:46131150 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1491C>A (p.Asn497Lys) single nucleotide variant not provided [RCV001546957] Chr21:44521958 [GRCh38]
Chr21:45941841 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1566+23C>T single nucleotide variant not provided [RCV001574291] Chr21:44521860 [GRCh38]
Chr21:45941743 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.83-323G>A single nucleotide variant not provided [RCV001575238] Chr21:44568328 [GRCh38]
Chr21:45988212 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181686.2(KRTAP12-1):c.184C>A (p.Pro62Thr) single nucleotide variant not specified [RCV004291801] Chr21:44681940 [GRCh38]
Chr21:46101855 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1448G>T (p.Ser483Ile) single nucleotide variant not provided [RCV003318241] Chr21:44522001 [GRCh38]
Chr21:45941884 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.1037G>A (p.Arg346His) single nucleotide variant not specified [RCV004324749] Chr21:44591448 [GRCh38]
Chr21:46011329 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.142G>A (p.Ala48Thr) single nucleotide variant not specified [RCV004282249] Chr21:44600763 [GRCh38]
Chr21:46020678 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.543-45T>C single nucleotide variant not provided [RCV001673893] Chr21:44531178 [GRCh38]
Chr21:45951061 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.600C>T (p.Val200=) single nucleotide variant not provided [RCV001555675] Chr21:44531076 [GRCh38]
Chr21:45950959 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) single nucleotide variant TSPEAR-related condition [RCV003416393]|Tooth agenesis, selective, 10 [RCV002472331]|not provided [RCV001561019] Chr21:44499916 [GRCh38]
Chr21:45919799 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.1567-63C>T single nucleotide variant not provided [RCV001534525] Chr21:44509449 [GRCh38]
Chr21:45929332 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.922+264T>C single nucleotide variant not provided [RCV001615450] Chr21:44528188 [GRCh38]
Chr21:45948071 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1160C>A (p.Ala387Glu) single nucleotide variant not provided [RCV001562371] Chr21:44525829 [GRCh38]
Chr21:45945712 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1567-155C>T single nucleotide variant not provided [RCV001586950] Chr21:44509541 [GRCh38]
Chr21:45929424 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.365G>A (p.Arg122Gln) single nucleotide variant Inborn genetic diseases [RCV003161091]|not provided [RCV001557670] Chr21:44533862 [GRCh38]
Chr21:45953745 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.82+23C>T single nucleotide variant not provided [RCV001557875] Chr21:44711410 [GRCh38]
Chr21:46131325 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.346C>T (p.Leu116=) single nucleotide variant not provided [RCV001587957] Chr21:44533881 [GRCh38]
Chr21:45953764 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.1754+58C>T single nucleotide variant not provided [RCV001558909] Chr21:44509141 [GRCh38]
Chr21:45929024 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.268G>A (p.Val90Ile) single nucleotide variant not provided [RCV001559376] Chr21:44567820 [GRCh38]
Chr21:45987704 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.303+31A>C single nucleotide variant not provided [RCV001614898] Chr21:44567754 [GRCh38]
Chr21:45987638 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1150-20C>T single nucleotide variant not provided [RCV001588088] Chr21:44525859 [GRCh38]
Chr21:45945742 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_198691.3(KRTAP10-1):c.271A>G (p.Thr91Ala) single nucleotide variant not specified [RCV004299031] Chr21:44539880 [GRCh38]
Chr21:45959763 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.415G>A (p.Gly139Ser) single nucleotide variant TSPEAR-related condition [RCV003930833]|not provided [RCV000892801] Chr21:44533812 [GRCh38]
Chr21:45953695 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NC_000021.8:g.(?_45725202)_(45929269_?)dup duplication not provided [RCV001031163] Chr21:45725202..45929269 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.357C>T (p.Leu119=) single nucleotide variant not provided [RCV000913687] Chr21:44533870 [GRCh38]
Chr21:45953753 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.1755-7C>T single nucleotide variant TSPEAR-related condition [RCV003910556]|not provided [RCV000889782] Chr21:44504888 [GRCh38]
Chr21:45924771 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_144991.3(TSPEAR):c.791-64C>G single nucleotide variant not provided [RCV001562537] Chr21:44528647 [GRCh38]
Chr21:45948530 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.82+52G>C single nucleotide variant not provided [RCV001574669] Chr21:44711381 [GRCh38]
Chr21:46131296 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1567-41C>T single nucleotide variant not provided [RCV001557393] Chr21:44509427 [GRCh38]
Chr21:45929310 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1918T>C (p.Trp640Arg) single nucleotide variant Inborn genetic diseases [RCV004039363]|not provided [RCV001570190] Chr21:44499875 [GRCh38]
Chr21:45919758 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1754+145_1754+172del microsatellite not provided [RCV001559591] Chr21:44509027..44509054 [GRCh38]
Chr21:45928910..45928937 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.542+280C>T single nucleotide variant not provided [RCV001640825] Chr21:44533405 [GRCh38]
Chr21:45953288 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1519C>T (p.Leu507Phe) single nucleotide variant not provided [RCV003234302] Chr21:44521930 [GRCh38]
Chr21:45941813 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.750G>A (p.Thr250=) single nucleotide variant not provided [RCV001559895] Chr21:44529838 [GRCh38]
Chr21:45949721 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1337-330C>A single nucleotide variant not provided [RCV001559924] Chr21:44522442 [GRCh38]
Chr21:45942325 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1336+34A>C single nucleotide variant not provided [RCV001560081] Chr21:44525619 [GRCh38]
Chr21:45945502 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.634-25G>C single nucleotide variant not provided [RCV001560082] Chr21:44529979 [GRCh38]
Chr21:45949862 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.634-234dup duplication not provided [RCV001641044] Chr21:44530182..44530183 [GRCh38]
Chr21:45950065..45950066 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.809C>T (p.Thr270Met) single nucleotide variant not provided [RCV001555131] Chr21:44528565 [GRCh38]
Chr21:45948448 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1150-140G>A single nucleotide variant not provided [RCV001560384] Chr21:44525979 [GRCh38]
Chr21:45945862 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.*5G>A single nucleotide variant not provided [RCV001560578] Chr21:44499778 [GRCh38]
Chr21:45919661 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1599G>A (p.Gln533=) single nucleotide variant not provided [RCV001658924] Chr21:44509354 [GRCh38]
Chr21:45929237 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.662C>T (p.Pro221Leu) single nucleotide variant not provided [RCV002259505] Chr21:44529926 [GRCh38]
Chr21:45949809 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1755-325C>T single nucleotide variant not provided [RCV001555743] Chr21:44505206 [GRCh38]
Chr21:45925089 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1567-62G>A single nucleotide variant not provided [RCV001550622] Chr21:44509448 [GRCh38]
Chr21:45929331 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1857-125G>A single nucleotide variant not provided [RCV001555966] Chr21:44500061 [GRCh38]
Chr21:45919944 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1778C>T (p.Ser593Leu) single nucleotide variant Inborn genetic diseases [RCV004039449]|not provided [RCV001576944] Chr21:44504858 [GRCh38]
Chr21:45924741 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.978_979del (p.Glu326fs) microsatellite not provided [RCV001008988] Chr21:44527462..44527463 [GRCh38]
Chr21:45947345..45947346 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.790+142T>C single nucleotide variant not provided [RCV001619170] Chr21:44529656 [GRCh38]
Chr21:45949539 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1336+25C>T single nucleotide variant not provided [RCV001619547] Chr21:44525628 [GRCh38]
Chr21:45945511 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.44711886G>T single nucleotide variant not provided [RCV001677654] Chr21:44711886 [GRCh38]
Chr21:46131801 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.633+140C>T single nucleotide variant not provided [RCV001657309] Chr21:44530903 [GRCh38]
Chr21:45950786 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1337-120C>T single nucleotide variant not provided [RCV001720897] Chr21:44522232 [GRCh38]
Chr21:45942115 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1149+218G>A single nucleotide variant not provided [RCV001597445] Chr21:44527074 [GRCh38]
Chr21:45946957 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.633+163T>C single nucleotide variant not provided [RCV001720895] Chr21:44530880 [GRCh38]
Chr21:45950763 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.633+118T>C single nucleotide variant not provided [RCV001720896] Chr21:44530925 [GRCh38]
Chr21:45950808 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1979T>G (p.Leu660Arg) single nucleotide variant Inborn genetic diseases [RCV003339673]|not provided [RCV001545588] Chr21:44499814 [GRCh38]
Chr21:45919697 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.923-66C>T single nucleotide variant not provided [RCV001696658] Chr21:44527584 [GRCh38]
Chr21:45947467 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.791-57G>A single nucleotide variant not provided [RCV001682067] Chr21:44528640 [GRCh38]
Chr21:45948523 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.923-283A>G single nucleotide variant not provided [RCV001617664] Chr21:44527801 [GRCh38]
Chr21:45947684 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.82+173G>A single nucleotide variant not provided [RCV001594095] Chr21:44711260 [GRCh38]
Chr21:46131175 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.594C>T (p.Phe198=) single nucleotide variant not provided [RCV001592174] Chr21:44531082 [GRCh38]
Chr21:45950965 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1149+64G>A single nucleotide variant not provided [RCV001621221] Chr21:44527228 [GRCh38]
Chr21:45947111 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.82+13926C>T single nucleotide variant not provided [RCV001531970] Chr21:44697507 [GRCh38]
Chr21:46117422 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1754+37T>G single nucleotide variant not provided [RCV001575335] Chr21:44509162 [GRCh38]
Chr21:45929045 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1337-112C>T single nucleotide variant not provided [RCV001713854] Chr21:44522224 [GRCh38]
Chr21:45942107 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1337-160G>A single nucleotide variant not provided [RCV001588695] Chr21:44522272 [GRCh38]
Chr21:45942155 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1755-65G>A single nucleotide variant not provided [RCV001583214] Chr21:44504946 [GRCh38]
Chr21:45924829 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.790+40T>C single nucleotide variant not provided [RCV001669434] Chr21:44529758 [GRCh38]
Chr21:45949641 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1337-65C>T single nucleotide variant not provided [RCV001588782] Chr21:44522177 [GRCh38]
Chr21:45942060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.*4C>T single nucleotide variant not provided [RCV001590361] Chr21:44499779 [GRCh38]
Chr21:45919662 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1856+317C>A single nucleotide variant not provided [RCV001650189] Chr21:44504463 [GRCh38]
Chr21:45924346 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.543-70T>C single nucleotide variant not provided [RCV001694015] Chr21:44531203 [GRCh38]
Chr21:45951086 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1336+190C>T single nucleotide variant not provided [RCV001585325] Chr21:44525463 [GRCh38]
Chr21:45945346 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45996567-46593248)x3 copy number gain not provided [RCV001007147] Chr21:45996567..46593248 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1337-245A>G single nucleotide variant not provided [RCV001679026] Chr21:44522357 [GRCh38]
Chr21:45942240 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.634-162A>G single nucleotide variant not provided [RCV001669479] Chr21:44530116 [GRCh38]
Chr21:45949999 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1755-322G>A single nucleotide variant not provided [RCV001586879] Chr21:44505203 [GRCh38]
Chr21:45925086 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1754+144_1754+188del deletion not provided [RCV001546270] Chr21:44509011..44509055 [GRCh38]
Chr21:45928894..45928938 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1879G>A (p.Val627Met) single nucleotide variant Inborn genetic diseases [RCV003246987]|not provided [RCV001572706] Chr21:44499914 [GRCh38]
Chr21:45919797 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.192C>T (p.Ala64=) single nucleotide variant not provided [RCV001564836] Chr21:44567896 [GRCh38]
Chr21:45987780 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1754+292G>A single nucleotide variant not provided [RCV001546449] Chr21:44508907 [GRCh38]
Chr21:45928790 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.304-47C>T single nucleotide variant not provided [RCV001665453] Chr21:44533970 [GRCh38]
Chr21:45953853 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1150-26C>G single nucleotide variant not provided [RCV001585132] Chr21:44525865 [GRCh38]
Chr21:45945748 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.922+281C>T single nucleotide variant not provided [RCV001614915] Chr21:44528171 [GRCh38]
Chr21:45948054 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_45725202)_(46234019_?)dup duplication not provided [RCV001033924] Chr21:45725202..46234019 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.167C>T (p.Ala56Val) single nucleotide variant Inborn genetic diseases [RCV004039508]|not provided [RCV001581025] Chr21:44567921 [GRCh38]
Chr21:45987805 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.82+56987C>T single nucleotide variant Deafness, autosomal recessive 98 [RCV001331742] Chr21:44654446 [GRCh38]
Chr21:46074363 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.542+38C>G single nucleotide variant not provided [RCV001540387] Chr21:44533647 [GRCh38]
Chr21:45953530 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.193G>A (p.Ala65Thr) single nucleotide variant not provided [RCV001580777] Chr21:44567895 [GRCh38]
Chr21:45987779 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.633+124G>A single nucleotide variant not provided [RCV001536489] Chr21:44530919 [GRCh38]
Chr21:45950802 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV001331741]|Tooth agenesis, selective, 10 [RCV003989682]|not provided [RCV002546503] Chr21:44529799 [GRCh38]
Chr21:45949682 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.82+56896C>G single nucleotide variant Deafness, autosomal recessive 98 [RCV001336973] Chr21:44654537 [GRCh38]
Chr21:46074454 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1856+19C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001335430]|not provided [RCV001552662] Chr21:44504761 [GRCh38]
Chr21:45924644 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_144991.3(TSPEAR):c.38del (p.Leu13fs) deletion TSPEAR-related condition [RCV003416561]|not provided [RCV001917965] Chr21:44711477 [GRCh38]
Chr21:46131392 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.82+29467_82+29468del microsatellite Deafness, autosomal recessive 98 [RCV001335436] Chr21:44681965..44681966 [GRCh38]
Chr21:46101880..46101881 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1162G>A (p.Val388Met) single nucleotide variant Hearing impairment [RCV001375437] Chr21:44525827 [GRCh38]
Chr21:45945710 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV001376117]|not provided [RCV001823188] Chr21:44525708 [GRCh38]
Chr21:45945591 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.303+16675del deletion Deafness, autosomal recessive 98 [RCV001335433] Chr21:44551110 [GRCh38]
Chr21:45970993 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.42_51dup (p.His18fs) duplication Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV001376116]|not provided [RCV002274172] Chr21:44711463..44711464 [GRCh38]
Chr21:46131378..46131379 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003723003] Chr21:44711513 [GRCh38]
Chr21:46131428 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_198691.3(KRTAP10-1):c.778G>T (p.Ala260Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001335434] Chr21:44539373 [GRCh38]
Chr21:45959256 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV001514680] Chr21:44711443 [GRCh38]
Chr21:46131358 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NC_000021.8:g.(?_45629566)_(46330717_?)del deletion Polyglandular autoimmune syndrome, type 1 [RCV001381160] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.543-102A>G single nucleotide variant not provided [RCV001534161] Chr21:44531235 [GRCh38]
Chr21:45951118 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.634-32C>T single nucleotide variant not provided [RCV001665096] Chr21:44529986 [GRCh38]
Chr21:45949869 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1149+141A>G single nucleotide variant not provided [RCV001655273] Chr21:44527151 [GRCh38]
Chr21:45947034 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.922+54G>A single nucleotide variant not provided [RCV001616001] Chr21:44528398 [GRCh38]
Chr21:45948281 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1337-116T>C single nucleotide variant not provided [RCV001686495] Chr21:44522228 [GRCh38]
Chr21:45942111 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1586G>C (p.Trp529Ser) single nucleotide variant not provided [RCV001756317] Chr21:44509367 [GRCh38]
Chr21:45929250 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.730C>T (p.Arg244Trp) single nucleotide variant not provided [RCV002244475]|not specified [RCV002469460] Chr21:44529858 [GRCh38]
Chr21:45949741 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.635G>A (p.Gly212Glu) single nucleotide variant not provided [RCV003107061] Chr21:44529953 [GRCh38]
Chr21:45949836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1039C>T (p.Arg347Cys) single nucleotide variant not specified [RCV002248917] Chr21:44527402 [GRCh38]
Chr21:45947285 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1337-2A>G single nucleotide variant not provided [RCV001783919] Chr21:44522114 [GRCh38]
Chr21:45941997 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1920G>A (p.Trp640Ter) single nucleotide variant not provided [RCV001771610] Chr21:44499873 [GRCh38]
Chr21:45919756 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.303+9641C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001733760] Chr21:44558144 [GRCh38]
Chr21:45978027 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.248C>T (p.Ser83Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001733761]|not specified [RCV004040046] Chr21:44697449 [GRCh38]
Chr21:46117364 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.1708G>A (p.Val570Met) single nucleotide variant not provided [RCV001763426] Chr21:44509245 [GRCh38]
Chr21:45929128 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.2006G>A (p.Arg669His) single nucleotide variant Inborn genetic diseases [RCV003298983]|not provided [RCV001764021] Chr21:44499787 [GRCh38]
Chr21:45919670 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.*14C>T single nucleotide variant not provided [RCV001786747] Chr21:44499769 [GRCh38]
Chr21:45919652 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NM_144991.3(TSPEAR):c.538G>A (p.Asp180Asn) single nucleotide variant Inborn genetic diseases [RCV004040119]|not provided [RCV001768873] Chr21:44533689 [GRCh38]
Chr21:45953572 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.430C>T (p.Arg144Ter) single nucleotide variant not provided [RCV001761149] Chr21:44533797 [GRCh38]
Chr21:45953680 [GRCh37]
Chr21:21q22.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.533C>T (p.Pro178Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV001796591]|not provided [RCV002568916] Chr21:44533694 [GRCh38]
Chr21:45953577 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.267C>T (p.Ile89=) single nucleotide variant not provided [RCV001733470] Chr21:44567821 [GRCh38]
Chr21:45987705 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1247A>C (p.Tyr416Ser) single nucleotide variant Inborn genetic diseases [RCV002544371]|not provided [RCV001800031] Chr21:44525742 [GRCh38]
Chr21:45945625 [GRCh37]
Chr21:21q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_144991.3(TSPEAR):c.518C>T (p.Thr173Met) single nucleotide variant not provided [RCV001758837] Chr21:44533709 [GRCh38]
Chr21:45953592 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.611G>T (p.Arg204Met) single nucleotide variant not provided [RCV001806683] Chr21:44531065 [GRCh38]
Chr21:45950948 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.323C>T (p.Thr108Met) single nucleotide variant Inborn genetic diseases [RCV004040903]|not provided [RCV001806520] Chr21:44533904 [GRCh38]
Chr21:45953787 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1189G>A (p.Gly397Ser) single nucleotide variant not provided [RCV001888960] Chr21:44525800 [GRCh38]
Chr21:45945683 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1271C>T (p.Ala424Val) single nucleotide variant not provided [RCV001914628] Chr21:44525718 [GRCh38]
Chr21:45945601 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.764A>G (p.Asp255Gly) single nucleotide variant not provided [RCV002024964] Chr21:44529824 [GRCh38]
Chr21:45949707 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.598G>A (p.Val200Ile) single nucleotide variant not provided [RCV001910605] Chr21:44531078 [GRCh38]
Chr21:45950961 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1511A>C (p.His504Pro) single nucleotide variant not provided [RCV001891578] Chr21:44521938 [GRCh38]
Chr21:45941821 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.88C>T (p.Arg30Cys) single nucleotide variant not provided [RCV001837657] Chr21:44568000 [GRCh38]
Chr21:45987884 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1367A>G (p.Tyr456Cys) single nucleotide variant not provided [RCV002005823] Chr21:44522082 [GRCh38]
Chr21:45941965 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.449C>T (p.Pro150Leu) single nucleotide variant not provided [RCV001894844] Chr21:44533778 [GRCh38]
Chr21:45953661 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1993C>T (p.Arg665Trp) single nucleotide variant not provided [RCV001984469] Chr21:44499800 [GRCh38]
Chr21:45919683 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233) copy number loss not specified [RCV002052743] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.633+2C>T single nucleotide variant TSPEAR-related condition [RCV003426285]|not provided [RCV001999671] Chr21:44531041 [GRCh38]
Chr21:45950924 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1291G>A (p.Glu431Lys) single nucleotide variant Inborn genetic diseases [RCV003289318]|not provided [RCV001993877] Chr21:44525698 [GRCh38]
Chr21:45945581 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.119C>T (p.Pro40Leu) single nucleotide variant not provided [RCV001959401] Chr21:44567969 [GRCh38]
Chr21:45987853 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1883C>T (p.Ala628Val) single nucleotide variant not provided [RCV002013325] Chr21:44499910 [GRCh38]
Chr21:45919793 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.550G>A (p.Asp184Asn) single nucleotide variant not provided [RCV001939101] Chr21:44531126 [GRCh38]
Chr21:45951009 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.633+2C>A single nucleotide variant not provided [RCV002037255] Chr21:44531041 [GRCh38]
Chr21:45950924 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1141G>A (p.Gly381Arg) single nucleotide variant Inborn genetic diseases [RCV004041695]|not provided [RCV001917629] Chr21:44527300 [GRCh38]
Chr21:45947183 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_45919666)_(45942015_?)del deletion not provided [RCV001919180] Chr21:45919666..45942015 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.704C>G (p.Ala235Gly) single nucleotide variant not provided [RCV001991087] Chr21:44529884 [GRCh38]
Chr21:45949767 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1019T>C (p.Leu340Pro) single nucleotide variant Inborn genetic diseases [RCV004043472]|not provided [RCV001920930] Chr21:44527422 [GRCh38]
Chr21:45947305 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_46131328)_(46131429_?)del deletion not provided [RCV002033247] Chr21:46131328..46131429 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.1084G>A (p.Val362Ile) single nucleotide variant not provided [RCV002017927] Chr21:44527357 [GRCh38]
Chr21:45947240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.402C>T (p.Arg134=) single nucleotide variant not provided [RCV001938882] Chr21:44533825 [GRCh38]
Chr21:45953708 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 98 [RCV002506947]|Inborn genetic diseases [RCV002552298]|not provided [RCV001883883] Chr21:44533869 [GRCh38]
Chr21:45953752 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1714G>C (p.Ala572Pro) single nucleotide variant not provided [RCV001981822] Chr21:44509239 [GRCh38]
Chr21:45929122 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.362T>C (p.Leu121Pro) single nucleotide variant not provided [RCV001973746] Chr21:44533865 [GRCh38]
Chr21:45953748 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1066T>C (p.Trp356Arg) single nucleotide variant not provided [RCV001956884] Chr21:44527375 [GRCh38]
Chr21:45947258 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.355C>T (p.Leu119Phe) single nucleotide variant Inborn genetic diseases [RCV002545313]|TSPEAR-related condition [RCV003968590]|not provided [RCV002030108] Chr21:44533872 [GRCh38]
Chr21:45953755 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_144991.3(TSPEAR):c.354G>A (p.Leu118=) single nucleotide variant TSPEAR-related condition [RCV003968722]|not provided [RCV002092879] Chr21:44533873 [GRCh38]
Chr21:45953756 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1836G>A (p.Ser612=) single nucleotide variant TSPEAR-related condition [RCV003913704]|not provided [RCV002105977] Chr21:44504800 [GRCh38]
Chr21:45924683 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1566+10C>T single nucleotide variant not provided [RCV002105286] Chr21:44521873 [GRCh38]
Chr21:45941756 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198689.3(KRTAP10-7):c.185A>G (p.Tyr62Cys) single nucleotide variant not specified [RCV002246868] Chr21:44600806 [GRCh38]
Chr21:46020721 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1966G>A (p.Ala656Thr) single nucleotide variant not provided [RCV002109808] Chr21:44499827 [GRCh38]
Chr21:45919710 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.147G>A (p.Arg49=) single nucleotide variant not provided [RCV002196133] Chr21:44567941 [GRCh38]
Chr21:45987825 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1713C>T (p.Thr571=) single nucleotide variant TSPEAR-related condition [RCV003970971]|not provided [RCV002152427] Chr21:44509240 [GRCh38]
Chr21:45929123 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.923-20_923-15dup duplication not provided [RCV002116496] Chr21:44527532..44527533 [GRCh38]
Chr21:45947415..45947416 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1857-5C>T single nucleotide variant not provided [RCV002078554] Chr21:44499941 [GRCh38]
Chr21:45919824 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1422C>T (p.Ser474=) single nucleotide variant not provided [RCV002113892] Chr21:44522027 [GRCh38]
Chr21:45941910 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1203T>C (p.Ser401=) single nucleotide variant not provided [RCV002078508] Chr21:44525786 [GRCh38]
Chr21:45945669 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.922+19C>T single nucleotide variant not provided [RCV002079966] Chr21:44528433 [GRCh38]
Chr21:45948316 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.414C>T (p.Ala138=) single nucleotide variant not provided [RCV002152310] Chr21:44533813 [GRCh38]
Chr21:45953696 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.878G>A (p.Gly293Asp) single nucleotide variant not provided [RCV002226101] Chr21:44528496 [GRCh38]
Chr21:45948379 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV002196324] Chr21:44529916 [GRCh38]
Chr21:45949799 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.790+20G>A single nucleotide variant not provided [RCV002128599] Chr21:44529778 [GRCh38]
Chr21:45949661 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1149+15G>A single nucleotide variant not provided [RCV002202782] Chr21:44527277 [GRCh38]
Chr21:45947160 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1632C>T (p.Asn544=) single nucleotide variant not provided [RCV002176066] Chr21:44509321 [GRCh38]
Chr21:45929204 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1269C>T (p.Ser423=) single nucleotide variant not provided [RCV002137260] Chr21:44525720 [GRCh38]
Chr21:45945603 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1716G>A (p.Ala572=) single nucleotide variant not provided [RCV002135644] Chr21:44509237 [GRCh38]
Chr21:45929120 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.597C>T (p.Phe199=) single nucleotide variant not provided [RCV002100386] Chr21:44531079 [GRCh38]
Chr21:45950962 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1047C>T (p.Ala349=) single nucleotide variant not provided [RCV002180612] Chr21:44527394 [GRCh38]
Chr21:45947277 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.160del (p.His54fs) deletion not provided [RCV003110572] Chr21:44567928 [GRCh38]
Chr21:45987812 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_45945516)_(45947421_?)del deletion not provided [RCV003113648] Chr21:45945516..45947421 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1336+2T>A single nucleotide variant not provided [RCV003115374] Chr21:44525651 [GRCh38]
Chr21:45945534 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.872G>A (p.Arg291Gln) single nucleotide variant not provided [RCV003115087] Chr21:44528502 [GRCh38]
Chr21:45948385 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_144991.3(TSPEAR):c.1466T>C (p.Phe489Ser) single nucleotide variant not provided [RCV003129037] Chr21:44521983 [GRCh38]
Chr21:45941866 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.250C>T (p.Pro84Ser) single nucleotide variant not provided [RCV003129173] Chr21:44567838 [GRCh38]
Chr21:45987722 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1819G>A (p.Asp607Asn) single nucleotide variant not provided [RCV002247187]|not specified [RCV002469461] Chr21:44504817 [GRCh38]
Chr21:45924700 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1168A>G (p.Asn390Asp) single nucleotide variant not provided [RCV002287137] Chr21:44525821 [GRCh38]
Chr21:45945704 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.267C>T (p.Cys89=) single nucleotide variant not provided [RCV002263282] Chr21:44580312 [GRCh38]
Chr21:46000189 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198693.4(KRTAP10-2):c.693G>C (p.Val231=) single nucleotide variant not provided [RCV002263280] Chr21:44550766 [GRCh38]
Chr21:45970649 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1 copy number loss not provided [RCV002291533] Chr21:45808650..47529568 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1379C>T (p.Pro460Leu) single nucleotide variant not provided [RCV002267220] Chr21:44522070 [GRCh38]
Chr21:45941953 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.196C>G (p.Pro66Ala) single nucleotide variant not provided [RCV003231764] Chr21:44567892 [GRCh38]
Chr21:45987776 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1149+5G>A single nucleotide variant not provided [RCV002273676] Chr21:44527287 [GRCh38]
Chr21:45947170 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1316C>A (p.Ala439Glu) single nucleotide variant not provided [RCV002281403] Chr21:44525673 [GRCh38]
Chr21:45945556 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.594C>G (p.Phe198Leu) single nucleotide variant not provided [RCV002293746] Chr21:44531082 [GRCh38]
Chr21:45950965 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.837C>T (p.Arg279=) single nucleotide variant not provided [RCV002263279] Chr21:44539314 [GRCh38]
Chr21:45959197 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.330C>T (p.Cys110=) single nucleotide variant not provided [RCV002263281] Chr21:44574088 [GRCh38]
Chr21:45993965 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002464051] Chr21:44522026 [GRCh38]
Chr21:45941909 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198691.3(KRTAP10-1):c.826G>A (p.Ala276Thr) single nucleotide variant not specified [RCV004289822] Chr21:44539325 [GRCh38]
Chr21:45959208 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198690.3(KRTAP10-9):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004309379] Chr21:44627268 [GRCh38]
Chr21:46047185 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.1100C>T (p.Pro367Leu) single nucleotide variant not specified [RCV004321034] Chr21:44574858 [GRCh38]
Chr21:45994735 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1994G>A (p.Arg665Gln) single nucleotide variant not provided [RCV003154332] Chr21:44499799 [GRCh38]
Chr21:45919682 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1934C>T (p.Thr645Ile) single nucleotide variant not provided [RCV003129348] Chr21:44499859 [GRCh38]
Chr21:45919742 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45727195-46161988)x4 copy number gain not provided [RCV002474918] Chr21:45727195..46161988 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1331G>A (p.Arg444Gln) single nucleotide variant Tooth agenesis, selective, 10 [RCV002470675]|not provided [RCV002571499] Chr21:44525658 [GRCh38]
Chr21:45945541 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_198689.3(KRTAP10-7):c.146C>T (p.Pro49Leu) single nucleotide variant not specified [RCV004212807] Chr21:44600767 [GRCh38]
Chr21:46020682 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1505del (p.Lys502fs) deletion Tooth agenesis, selective, 10 [RCV002470674] Chr21:44521944 [GRCh38]
Chr21:45941827 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198692.3(KRTAP10-11):c.112G>A (p.Ala38Thr) single nucleotide variant Myoepithelial tumor [RCV002463934]|not specified [RCV004067544] Chr21:44646570 [GRCh38]
Chr21:46066487 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_144991.3(TSPEAR):c.1899dup (p.Thr634fs) duplication Tooth agenesis, selective, 10 [RCV002470677] Chr21:44499893..44499894 [GRCh38]
Chr21:45919776..45919777 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.48del (p.Gly17fs) deletion Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV002464052] Chr21:44711467 [GRCh38]
Chr21:46131382 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1663C>T (p.Gln555Ter) single nucleotide variant Tooth agenesis, selective, 10 [RCV002470676] Chr21:44509290 [GRCh38]
Chr21:45929173 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1369A>G (p.Lys457Glu) single nucleotide variant not provided [RCV002298173] Chr21:44522080 [GRCh38]
Chr21:45941963 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1149+3A>C single nucleotide variant not provided [RCV002309001] Chr21:44527289 [GRCh38]
Chr21:45947172 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1502C>T (p.Thr501Ile) single nucleotide variant not provided [RCV002300066] Chr21:44521947 [GRCh38]
Chr21:45941830 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.38G>A (p.Arg13His) single nucleotide variant not specified [RCV004200185] Chr21:44573796 [GRCh38]
Chr21:45993673 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.127G>A (p.Val43Met) single nucleotide variant not specified [RCV004126399] Chr21:44612227 [GRCh38]
Chr21:46032144 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1072G>A (p.Glu358Lys) single nucleotide variant Inborn genetic diseases [RCV002972797] Chr21:44527369 [GRCh38]
Chr21:45947252 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.142G>A (p.Ala48Thr) single nucleotide variant not specified [RCV004204068] Chr21:44573900 [GRCh38]
Chr21:45993777 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1568C>T (p.Thr523Met) single nucleotide variant not provided [RCV002614706] Chr21:44509385 [GRCh38]
Chr21:45929268 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.730T>G (p.Ser244Ala) single nucleotide variant not specified [RCV004074647] Chr21:44550729 [GRCh38]
Chr21:45970612 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.337G>C (p.Val113Leu) single nucleotide variant not specified [RCV004218515] Chr21:44627508 [GRCh38]
Chr21:46047425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.613G>A (p.Gly205Arg) single nucleotide variant not specified [RCV004193903] Chr21:44539538 [GRCh38]
Chr21:45959421 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.601A>T (p.Ile201Phe) single nucleotide variant not specified [RCV004128664] Chr21:44574359 [GRCh38]
Chr21:45994236 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.220T>C (p.Cys74Arg) single nucleotide variant not specified [RCV004090848] Chr21:44637637 [GRCh38]
Chr21:46057554 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198698.1(KRTAP12-4):c.302A>G (p.Tyr101Cys) single nucleotide variant not specified [RCV004076156] Chr21:44654313 [GRCh38]
Chr21:46074230 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198695.2(KRTAP10-8):c.532C>A (p.Pro178Thr) single nucleotide variant not specified [RCV004219929] Chr21:44612632 [GRCh38]
Chr21:46032549 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.440G>A (p.Cys147Tyr) single nucleotide variant not specified [RCV004189891] Chr21:44558276 [GRCh38]
Chr21:45978159 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1052C>T (p.Thr351Ile) single nucleotide variant not specified [RCV004135601] Chr21:44574810 [GRCh38]
Chr21:45994687 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.503G>T (p.Cys168Phe) single nucleotide variant not specified [RCV004148922] Chr21:44627674 [GRCh38]
Chr21:46047591 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1714G>A (p.Ala572Thr) single nucleotide variant Inborn genetic diseases [RCV003103105]|not provided [RCV002461622] Chr21:44509239 [GRCh38]
Chr21:45929122 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1621G>A (p.Ala541Thr) single nucleotide variant Inborn genetic diseases [RCV002947086] Chr21:44509332 [GRCh38]
Chr21:45929215 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.57_58delinsGC (p.Thr20Pro) indel not provided [RCV002967523] Chr21:44711457..44711458 [GRCh38]
Chr21:46131372..46131373 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.360C>G (p.Cys120Trp) single nucleotide variant not specified [RCV004118046] Chr21:44592125 [GRCh38]
Chr21:46012006 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.468C>T (p.Arg156=) single nucleotide variant not provided [RCV002975524] Chr21:44533759 [GRCh38]
Chr21:45953642 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181686.2(KRTAP12-1):c.275C>T (p.Thr92Ile) single nucleotide variant not specified [RCV004236186] Chr21:44681849 [GRCh38]
Chr21:46101764 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.913G>A (p.Val305Met) single nucleotide variant not provided [RCV002616682] Chr21:44528461 [GRCh38]
Chr21:45948344 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.28T>C (p.Ser10Pro) single nucleotide variant not specified [RCV004090954] Chr21:44558688 [GRCh38]
Chr21:45978571 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1114G>A (p.Ala372Thr) single nucleotide variant not specified [RCV004214434] Chr21:44574872 [GRCh38]
Chr21:45994749 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.209G>A (p.Gly70Asp) single nucleotide variant not specified [RCV004086065] Chr21:44558507 [GRCh38]
Chr21:45978390 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1414G>A (p.Ala472Thr) single nucleotide variant Inborn genetic diseases [RCV002773999] Chr21:44522035 [GRCh38]
Chr21:45941918 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.335C>G (p.Pro112Arg) single nucleotide variant not specified [RCV004137331] Chr21:44558381 [GRCh38]
Chr21:45978264 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1001G>A (p.Arg334His) single nucleotide variant Inborn genetic diseases [RCV004067867]|not provided [RCV002731406] Chr21:44527440 [GRCh38]
Chr21:45947323 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.424A>G (p.Ile142Val) single nucleotide variant not specified [RCV004220560] Chr21:44666463 [GRCh38]
Chr21:46086380 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1676A>G (p.Tyr559Cys) single nucleotide variant Inborn genetic diseases [RCV002571608]|not provided [RCV002511409] Chr21:44509277 [GRCh38]
Chr21:45929160 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.88T>C (p.Cys30Arg) single nucleotide variant not specified [RCV004129910] Chr21:44666799 [GRCh38]
Chr21:46086716 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.155G>C (p.Cys52Ser) single nucleotide variant not specified [RCV004212916] Chr21:44573913 [GRCh38]
Chr21:45993790 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.196G>A (p.Ala66Thr) single nucleotide variant not specified [RCV004181041] Chr21:44551263 [GRCh38]
Chr21:45971146 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.826T>A (p.Cys276Ser) single nucleotide variant not specified [RCV004177285] Chr21:44627997 [GRCh38]
Chr21:46047914 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.643A>G (p.Ser215Gly) single nucleotide variant not specified [RCV004194272] Chr21:44539508 [GRCh38]
Chr21:45959391 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.912C>T (p.Ser304=) single nucleotide variant not provided [RCV002755110] Chr21:44528462 [GRCh38]
Chr21:45948345 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181688.3(KRTAP10-10):c.605G>A (p.Cys202Tyr) single nucleotide variant not specified [RCV004195203] Chr21:44638022 [GRCh38]
Chr21:46057939 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1093C>T (p.Gln365Ter) single nucleotide variant not provided [RCV002993965] Chr21:44527348 [GRCh38]
Chr21:45947231 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198692.3(KRTAP10-11):c.406T>A (p.Cys136Ser) single nucleotide variant not specified [RCV004240416] Chr21:44646864 [GRCh38]
Chr21:46066781 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.616G>T (p.Ala206Ser) single nucleotide variant not specified [RCV004096276] Chr21:44697817 [GRCh38]
Chr21:46117732 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.208C>A (p.Pro70Thr) single nucleotide variant not specified [RCV004122193] Chr21:44612308 [GRCh38]
Chr21:46032225 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.178C>T (p.Gln60Ter) single nucleotide variant not provided [RCV002618425] Chr21:44567910 [GRCh38]
Chr21:45987794 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198699.1(KRTAP10-12):c.566G>A (p.Cys189Tyr) single nucleotide variant not specified [RCV004092630] Chr21:44697767 [GRCh38]
Chr21:46117682 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.17T>C (p.Met6Thr) single nucleotide variant not specified [RCV004201689] Chr21:44592468 [GRCh38]
Chr21:46012349 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181688.3(KRTAP10-10):c.628G>A (p.Gly210Ser) single nucleotide variant not specified [RCV004111860] Chr21:44638045 [GRCh38]
Chr21:46057962 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.671G>A (p.Cys224Tyr) single nucleotide variant not specified [RCV004116813] Chr21:44591814 [GRCh38]
Chr21:46011695 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.404C>T (p.Ser135Phe) single nucleotide variant not specified [RCV004228898] Chr21:44627575 [GRCh38]
Chr21:46047492 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1972G>A (p.Glu658Lys) single nucleotide variant not provided [RCV002819356] Chr21:44499821 [GRCh38]
Chr21:45919704 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.179C>A (p.Ala60Glu) single nucleotide variant not specified [RCV004161652] Chr21:44551280 [GRCh38]
Chr21:45971163 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45843864-46176026)x3 copy number gain not provided [RCV002475676] Chr21:45843864..46176026 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1256T>C (p.Ile419Thr) single nucleotide variant not provided [RCV002695514] Chr21:44525733 [GRCh38]
Chr21:45945616 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.640A>G (p.Ser214Gly) single nucleotide variant not specified [RCV004120731] Chr21:44550819 [GRCh38]
Chr21:45970702 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.331G>A (p.Val111Met) single nucleotide variant not specified [RCV004204026] Chr21:44574089 [GRCh38]
Chr21:45993966 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.820C>T (p.Arg274Cys) single nucleotide variant not specified [RCV004225979] Chr21:44539331 [GRCh38]
Chr21:45959214 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.419C>G (p.Ser140Cys) single nucleotide variant not specified [RCV004184549] Chr21:44558297 [GRCh38]
Chr21:45978180 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.511T>G (p.Ser171Ala) single nucleotide variant not specified [RCV004232351] Chr21:44580068 [GRCh38]
Chr21:45999945 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.382G>A (p.Val128Ile) single nucleotide variant not specified [RCV004228327] Chr21:44558334 [GRCh38]
Chr21:45978217 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.205T>G (p.Cys69Gly) single nucleotide variant not specified [RCV004141855] Chr21:44580374 [GRCh38]
Chr21:46000251 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1337-7G>C single nucleotide variant not provided [RCV002622886] Chr21:44522119 [GRCh38]
Chr21:45942002 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.127G>A (p.Ala43Thr) single nucleotide variant not specified [RCV004207494] Chr21:44697328 [GRCh38]
Chr21:46117243 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198697.2(KRTAP12-3):c.136G>A (p.Val46Met) single nucleotide variant not specified [RCV004200035] Chr21:44658115 [GRCh38]
Chr21:46078032 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1150-21_1150-4del deletion not provided [RCV002825547] Chr21:44525843..44525860 [GRCh38]
Chr21:45945726..45945743 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.418G>A (p.Ala140Thr) single nucleotide variant not specified [RCV004149314] Chr21:44697619 [GRCh38]
Chr21:46117534 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.865A>G (p.Ser289Gly) single nucleotide variant not specified [RCV004181451] Chr21:44647323 [GRCh38]
Chr21:46067240 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198694.3(KRTAP10-5):c.730G>A (p.Ala244Thr) single nucleotide variant not specified [RCV004218010] Chr21:44579849 [GRCh38]
Chr21:45999726 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.854C>G (p.Ser285Cys) single nucleotide variant not specified [RCV004170434] Chr21:44628025 [GRCh38]
Chr21:46047942 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.290T>C (p.Leu97Pro) single nucleotide variant not specified [RCV004192406] Chr21:44574048 [GRCh38]
Chr21:45993925 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.140G>C (p.Cys47Ser) single nucleotide variant not specified [RCV004124598] Chr21:44697341 [GRCh38]
Chr21:46117256 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.116C>T (p.Pro39Leu) single nucleotide variant not specified [RCV004177753] Chr21:44646574 [GRCh38]
Chr21:46066491 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.454T>G (p.Cys152Gly) single nucleotide variant not specified [RCV004104688] Chr21:44558262 [GRCh38]
Chr21:45978145 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.212G>C (p.Cys71Ser) single nucleotide variant not specified [RCV004179733] Chr21:44612312 [GRCh38]
Chr21:46032229 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.136T>C (p.Cys46Arg) single nucleotide variant not specified [RCV004192978] Chr21:44612236 [GRCh38]
Chr21:46032153 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1653G>T (p.Glu551Asp) single nucleotide variant not provided [RCV002843950] Chr21:44509300 [GRCh38]
Chr21:45929183 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.818G>C (p.Cys273Ser) single nucleotide variant not specified [RCV004131810] Chr21:44539333 [GRCh38]
Chr21:45959216 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1178del (p.Pro393fs) deletion Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV003059996]|not provided [RCV003037102] Chr21:44525811 [GRCh38]
Chr21:45945694 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_198695.2(KRTAP10-8):c.443A>G (p.Gln148Arg) single nucleotide variant not specified [RCV004132269] Chr21:44612543 [GRCh38]
Chr21:46032460 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.199dup (p.Arg67fs) duplication not provided [RCV002706441] Chr21:44567888..44567889 [GRCh38]
Chr21:45987772..45987773 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.49G>A (p.Gly17Ser) single nucleotide variant Inborn genetic diseases [RCV002978441] Chr21:44711466 [GRCh38]
Chr21:46131381 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.134C>T (p.Pro45Leu) single nucleotide variant not specified [RCV004197526] Chr21:44592351 [GRCh38]
Chr21:46012232 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.571C>A (p.Pro191Thr) single nucleotide variant not specified [RCV004186560] Chr21:44558145 [GRCh38]
Chr21:45978028 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1834T>C (p.Ser612Pro) single nucleotide variant Inborn genetic diseases [RCV002757176] Chr21:44504802 [GRCh38]
Chr21:45924685 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.634-15T>C single nucleotide variant not provided [RCV002569864] Chr21:44529969 [GRCh38]
Chr21:45949852 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.901G>A (p.Glu301Lys) single nucleotide variant Inborn genetic diseases [RCV002707486] Chr21:44528473 [GRCh38]
Chr21:45948356 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1566G>A (p.Pro522=) single nucleotide variant not provided [RCV002510175] Chr21:44521883 [GRCh38]
Chr21:45941766 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.712G>A (p.Val238Met) single nucleotide variant not specified [RCV004175126] Chr21:44550747 [GRCh38]
Chr21:45970630 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1594T>C (p.Phe532Leu) single nucleotide variant not provided [RCV002695775] Chr21:44509359 [GRCh38]
Chr21:45929242 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.4G>A (p.Ala2Thr) single nucleotide variant not specified [RCV004132448] Chr21:44558712 [GRCh38]
Chr21:45978595 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004133816] Chr21:44627260 [GRCh38]
Chr21:46047177 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.668C>T (p.Thr223Met) single nucleotide variant not specified [RCV004213933] Chr21:44638085 [GRCh38]
Chr21:46058002 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.758C>A (p.Ala253Asp) single nucleotide variant not specified [RCV004102343] Chr21:44539393 [GRCh38]
Chr21:45959276 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.790+19C>T single nucleotide variant not provided [RCV002622446] Chr21:44529779 [GRCh38]
Chr21:45949662 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.863A>G (p.Tyr288Cys) single nucleotide variant not specified [RCV004181450] Chr21:44647321 [GRCh38]
Chr21:46067238 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.76T>A (p.Cys26Ser) single nucleotide variant Inborn genetic diseases [RCV002823077] Chr21:44711439 [GRCh38]
Chr21:46131354 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1567-13_1567-12dup duplication not provided [RCV003008140] Chr21:44509397..44509398 [GRCh38]
Chr21:45929280..45929281 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181688.3(KRTAP10-10):c.162G>T (p.Gln54His) single nucleotide variant not specified [RCV004085884] Chr21:44637579 [GRCh38]
Chr21:46057496 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.280G>A (p.Val94Met) single nucleotide variant not specified [RCV004186298] Chr21:44666607 [GRCh38]
Chr21:46086524 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.401G>T (p.Arg134Leu) single nucleotide variant Inborn genetic diseases [RCV003170739]|not provided [RCV002959073] Chr21:44533826 [GRCh38]
Chr21:45953709 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.40G>A (p.Val14Ile) single nucleotide variant not specified [RCV004199679] Chr21:44697241 [GRCh38]
Chr21:46117156 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.697C>T (p.Leu233Phe) single nucleotide variant not specified [RCV004231673] Chr21:44627868 [GRCh38]
Chr21:46047785 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.220T>G (p.Cys74Gly) single nucleotide variant not specified [RCV004169360] Chr21:44580359 [GRCh38]
Chr21:46000236 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.665G>A (p.Arg222His) single nucleotide variant not specified [RCV004191053] Chr21:44638082 [GRCh38]
Chr21:46057999 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.112G>A (p.Ala38Thr) single nucleotide variant not specified [RCV004195649] Chr21:44627283 [GRCh38]
Chr21:46047200 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.453C>T (p.Ala151=) single nucleotide variant not provided [RCV003005116] Chr21:44533774 [GRCh38]
Chr21:45953657 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.108G>A (p.Ala36=) single nucleotide variant not provided [RCV002623382] Chr21:44567980 [GRCh38]
Chr21:45987864 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.633+3G>A single nucleotide variant not provided [RCV002595985] Chr21:44531040 [GRCh38]
Chr21:45950923 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.348G>C (p.Lys116Asn) single nucleotide variant not specified [RCV004242718] Chr21:44697549 [GRCh38]
Chr21:46117464 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1905C>T (p.Val635=) single nucleotide variant not provided [RCV002596647] Chr21:44499888 [GRCh38]
Chr21:45919771 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198695.2(KRTAP10-8):c.337C>A (p.Pro113Thr) single nucleotide variant not specified [RCV004178676] Chr21:44612437 [GRCh38]
Chr21:46032354 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.266G>A (p.Cys89Tyr) single nucleotide variant not specified [RCV004230575] Chr21:44551193 [GRCh38]
Chr21:45971076 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.635C>T (p.Ser212Phe) single nucleotide variant not specified [RCV004200115] Chr21:44601256 [GRCh38]
Chr21:46021171 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1334_1336+45del deletion not provided [RCV003022516] Chr21:44525608..44525655 [GRCh38]
Chr21:45945491..45945538 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198699.1(KRTAP10-12):c.599G>A (p.Arg200His) single nucleotide variant not specified [RCV004186264] Chr21:44697800 [GRCh38]
Chr21:46117715 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1442_1445del (p.Phe481fs) deletion not provided [RCV003023872] Chr21:44522004..44522007 [GRCh38]
Chr21:45941887..45941890 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198699.1(KRTAP10-12):c.631G>A (p.Val211Ile) single nucleotide variant not specified [RCV004211176] Chr21:44697832 [GRCh38]
Chr21:46117747 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.412C>A (p.Gln138Lys) single nucleotide variant not specified [RCV004111510] Chr21:44539739 [GRCh38]
Chr21:45959622 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.692G>T (p.Cys231Phe) single nucleotide variant not specified [RCV004173556] Chr21:44647150 [GRCh38]
Chr21:46067067 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.850T>C (p.Phe284Leu) single nucleotide variant not specified [RCV004170433] Chr21:44628021 [GRCh38]
Chr21:46047938 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198695.2(KRTAP10-8):c.218C>T (p.Ala73Val) single nucleotide variant not specified [RCV004091675] Chr21:44612318 [GRCh38]
Chr21:46032235 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.827C>T (p.Pro276Leu) single nucleotide variant not provided [RCV002624505] Chr21:44528547 [GRCh38]
Chr21:45948430 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.274T>C (p.Ser92Pro) single nucleotide variant not specified [RCV004144460] Chr21:44558442 [GRCh38]
Chr21:45978325 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1870G>A (p.Glu624Lys) single nucleotide variant not provided [RCV002623842] Chr21:44499923 [GRCh38]
Chr21:45919806 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.520T>C (p.Cys174Arg) single nucleotide variant not specified [RCV004184113] Chr21:44637937 [GRCh38]
Chr21:46057854 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.643C>A (p.Gln215Lys) single nucleotide variant not specified [RCV004206423] Chr21:44574401 [GRCh38]
Chr21:45994278 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1603G>A (p.Gly535Arg) single nucleotide variant not provided [RCV002625488] Chr21:44509350 [GRCh38]
Chr21:45929233 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181686.2(KRTAP12-1):c.209G>A (p.Cys70Tyr) single nucleotide variant not specified [RCV004161392] Chr21:44681915 [GRCh38]
Chr21:46101830 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1133T>G (p.Phe378Cys) single nucleotide variant not provided [RCV003059528] Chr21:44527308 [GRCh38]
Chr21:45947191 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.812T>G (p.Leu271Arg) single nucleotide variant not provided [RCV003056475] Chr21:44528562 [GRCh38]
Chr21:45948445 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.542C>T (p.Ser181Phe) single nucleotide variant not specified [RCV004159840] Chr21:44612642 [GRCh38]
Chr21:46032559 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.987C>G (p.Cys329Trp) single nucleotide variant not specified [RCV004185504] Chr21:44601608 [GRCh38]
Chr21:46021523 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.134C>G (p.Pro45Arg) single nucleotide variant not specified [RCV004085750] Chr21:44600755 [GRCh38]
Chr21:46020668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.922+20G>A single nucleotide variant not provided [RCV002786432] Chr21:44528432 [GRCh38]
Chr21:45948315 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.1036C>T (p.Arg346Cys) single nucleotide variant not specified [RCV004206120] Chr21:44591449 [GRCh38]
Chr21:46011330 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.730G>C (p.Ala244Pro) single nucleotide variant not specified [RCV004180023] Chr21:44697931 [GRCh38]
Chr21:46117846 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.568G>A (p.Val190Ile) single nucleotide variant not specified [RCV004229201] Chr21:44574326 [GRCh38]
Chr21:45994203 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.397T>A (p.Ser133Thr) single nucleotide variant not specified [RCV004175782] Chr21:44592088 [GRCh38]
Chr21:46011969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1906G>A (p.Gly636Ser) single nucleotide variant Inborn genetic diseases [RCV004065046]|not provided [RCV002982201] Chr21:44499887 [GRCh38]
Chr21:45919770 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1754+3A>G single nucleotide variant not provided [RCV002593734] Chr21:44509196 [GRCh38]
Chr21:45929079 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.595T>G (p.Phe199Val) single nucleotide variant not provided [RCV002766906] Chr21:44531081 [GRCh38]
Chr21:45950964 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1621G>C (p.Ala541Pro) single nucleotide variant not provided [RCV003041508] Chr21:44509332 [GRCh38]
Chr21:45929215 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.454C>A (p.Leu152Met) single nucleotide variant Inborn genetic diseases [RCV002645099] Chr21:44533773 [GRCh38]
Chr21:45953656 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.647T>C (p.Val216Ala) single nucleotide variant not specified [RCV004095255] Chr21:44697848 [GRCh38]
Chr21:46117763 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1938G>A (p.Thr646=) single nucleotide variant TSPEAR-related condition [RCV003963707]|not provided [RCV002624315] Chr21:44499855 [GRCh38]
Chr21:45919738 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.521G>A (p.Cys174Tyr) single nucleotide variant not specified [RCV004069738] Chr21:44539630 [GRCh38]
Chr21:45959513 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.583C>G (p.Pro195Ala) single nucleotide variant not specified [RCV004150130] Chr21:44591902 [GRCh38]
Chr21:46011783 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.703G>T (p.Ala235Ser) single nucleotide variant Inborn genetic diseases [RCV002874291] Chr21:44529885 [GRCh38]
Chr21:45949768 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198697.2(KRTAP12-3):c.100G>A (p.Val34Met) single nucleotide variant not specified [RCV004226159] Chr21:44658079 [GRCh38]
Chr21:46077996 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.841G>A (p.Ala281Thr) single nucleotide variant not specified [RCV004071147] Chr21:44647299 [GRCh38]
Chr21:46067216 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.301G>A (p.Val101Met) single nucleotide variant not specified [RCV004189569] Chr21:44627472 [GRCh38]
Chr21:46047389 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1083C>T (p.Phe361=) single nucleotide variant not provided [RCV003091386] Chr21:44527358 [GRCh38]
Chr21:45947241 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.113A>T (p.Glu38Val) single nucleotide variant not specified [RCV004084399] Chr21:44697314 [GRCh38]
Chr21:46117229 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1337-19C>T single nucleotide variant not provided [RCV003064054] Chr21:44522131 [GRCh38]
Chr21:45942014 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1432G>A (p.Asp478Asn) single nucleotide variant Inborn genetic diseases [RCV002652222]|not provided [RCV003328716] Chr21:44522017 [GRCh38]
Chr21:45941900 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.568G>A (p.Val190Met) single nucleotide variant not specified [RCV004212847] Chr21:44637985 [GRCh38]
Chr21:46057902 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1788A>T (p.Glu596Asp) single nucleotide variant Inborn genetic diseases [RCV003086459]|not provided [RCV003086458] Chr21:44504848 [GRCh38]
Chr21:45924731 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.922+17C>A single nucleotide variant not provided [RCV002580658] Chr21:44528435 [GRCh38]
Chr21:45948318 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.544G>T (p.Ala182Ser) single nucleotide variant not specified [RCV004219200] Chr21:44539607 [GRCh38]
Chr21:45959490 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.35C>T (p.Ala12Val) single nucleotide variant not specified [RCV004193284] Chr21:44551424 [GRCh38]
Chr21:45971307 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.86C>T (p.Pro29Leu) single nucleotide variant not specified [RCV004221593] Chr21:44558630 [GRCh38]
Chr21:45978513 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.730T>C (p.Ser244Pro) single nucleotide variant not specified [RCV004170974] Chr21:44574488 [GRCh38]
Chr21:45994365 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.236A>C (p.Gln79Pro) single nucleotide variant Inborn genetic diseases [RCV002961304] Chr21:44567852 [GRCh38]
Chr21:45987736 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.304-1G>C single nucleotide variant not provided [RCV003086938] Chr21:44533924 [GRCh38]
Chr21:45953807 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1822G>A (p.Gly608Arg) single nucleotide variant not provided [RCV002671360] Chr21:44504814 [GRCh38]
Chr21:45924697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1098C>T (p.Asn366=) single nucleotide variant not provided [RCV002716503] Chr21:44527343 [GRCh38]
Chr21:45947226 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198695.2(KRTAP10-8):c.76C>T (p.His26Tyr) single nucleotide variant not specified [RCV004237060] Chr21:44612176 [GRCh38]
Chr21:46032093 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.14C>G (p.Ser5Cys) single nucleotide variant not specified [RCV004129712] Chr21:44697215 [GRCh38]
Chr21:46117130 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.233C>T (p.Ser78Leu) single nucleotide variant not specified [RCV004075119] Chr21:44539918 [GRCh38]
Chr21:45959801 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.62A>T (p.Gln21Leu) single nucleotide variant Inborn genetic diseases [RCV002808561] Chr21:44711453 [GRCh38]
Chr21:46131368 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.272C>A (p.Thr91Asn) single nucleotide variant not specified [RCV004241509] Chr21:44646730 [GRCh38]
Chr21:46066647 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1965C>T (p.Ser655=) single nucleotide variant not provided [RCV002649301] Chr21:44499828 [GRCh38]
Chr21:45919711 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198693.4(KRTAP10-2):c.664T>A (p.Ser222Thr) single nucleotide variant not specified [RCV004072422] Chr21:44550795 [GRCh38]
Chr21:45970678 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.214C>G (p.Pro72Ala) single nucleotide variant not provided [RCV002598371] Chr21:44567874 [GRCh38]
Chr21:45987758 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.233C>T (p.Ser78Leu) single nucleotide variant not specified [RCV004155389] Chr21:44627404 [GRCh38]
Chr21:46047321 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.551G>A (p.Cys184Tyr) single nucleotide variant not specified [RCV004219201] Chr21:44539600 [GRCh38]
Chr21:45959483 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1573G>A (p.Gly525Ser) single nucleotide variant not provided [RCV002630967] Chr21:44509380 [GRCh38]
Chr21:45929263 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.311G>A (p.Cys104Tyr) single nucleotide variant not specified [RCV004105150] Chr21:44646769 [GRCh38]
Chr21:46066686 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1202_1203del (p.Ser401fs) microsatellite not provided [RCV002899168] Chr21:44525786..44525787 [GRCh38]
Chr21:45945669..45945670 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV002580057] Chr21:44533785 [GRCh38]
Chr21:45953668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1005C>T (p.Ile335=) single nucleotide variant not provided [RCV002580307] Chr21:44527436 [GRCh38]
Chr21:45947319 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.309C>T (p.Asn103=) single nucleotide variant not provided [RCV002580308] Chr21:44533918 [GRCh38]
Chr21:45953801 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.893T>C (p.Val298Ala) single nucleotide variant Inborn genetic diseases [RCV002719905] Chr21:44528481 [GRCh38]
Chr21:45948364 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.695G>A (p.Arg232His) single nucleotide variant not specified [RCV004171436] Chr21:44638112 [GRCh38]
Chr21:46058029 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.212C>T (p.Pro71Leu) single nucleotide variant not specified [RCV004190071] Chr21:44580367 [GRCh38]
Chr21:46000244 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.129C>T (p.Gly43=) single nucleotide variant not provided [RCV002630446] Chr21:44567959 [GRCh38]
Chr21:45987843 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198693.4(KRTAP10-2):c.224G>A (p.Cys75Tyr) single nucleotide variant not specified [RCV004090576] Chr21:44551235 [GRCh38]
Chr21:45971118 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.226G>A (p.Val76Met) single nucleotide variant not specified [RCV004075687] Chr21:44666661 [GRCh38]
Chr21:46086578 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.154T>C (p.Cys52Arg) single nucleotide variant not specified [RCV004193626] Chr21:44551305 [GRCh38]
Chr21:45971188 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.706C>T (p.Pro236Ser) single nucleotide variant not provided [RCV003046912] Chr21:44529882 [GRCh38]
Chr21:45949765 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.147C>G (p.Ser49Arg) single nucleotide variant not specified [RCV004124268] Chr21:44697348 [GRCh38]
Chr21:46117263 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.185C>T (p.Thr62Ile) single nucleotide variant not specified [RCV004092396] Chr21:44612285 [GRCh38]
Chr21:46032202 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1514C>A (p.Ser505Ter) single nucleotide variant not provided [RCV002646860] Chr21:44521935 [GRCh38]
Chr21:45941818 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1492G>A (p.Gly498Ser) single nucleotide variant not provided [RCV002602624] Chr21:44521957 [GRCh38]
Chr21:45941840 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.955C>T (p.Pro319Ser) single nucleotide variant not specified [RCV004242032] Chr21:44601576 [GRCh38]
Chr21:46021491 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.760A>G (p.Thr254Ala) single nucleotide variant not specified [RCV004194697] Chr21:44627931 [GRCh38]
Chr21:46047848 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.526G>A (p.Gly176Ser) single nucleotide variant Inborn genetic diseases [RCV002937018] Chr21:44533701 [GRCh38]
Chr21:45953584 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.17T>C (p.Met6Thr) single nucleotide variant not specified [RCV004160411] Chr21:44627188 [GRCh38]
Chr21:46047105 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.197C>G (p.Thr66Ser) single nucleotide variant not specified [RCV004075283] Chr21:44697398 [GRCh38]
Chr21:46117313 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1910G>A (p.Cys637Tyr) single nucleotide variant not provided [RCV002583902] Chr21:44499883 [GRCh38]
Chr21:45919766 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1567-14T>C single nucleotide variant not provided [RCV002635221] Chr21:44509400 [GRCh38]
Chr21:45929283 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.566C>T (p.Ala189Val) single nucleotide variant not specified [RCV004220940] Chr21:44591919 [GRCh38]
Chr21:46011800 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.316G>A (p.Val106Met) single nucleotide variant not specified [RCV004084619] Chr21:44697517 [GRCh38]
Chr21:46117432 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.613G>A (p.Val205Met) single nucleotide variant not specified [RCV004101684] Chr21:44647071 [GRCh38]
Chr21:46066988 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1246dup (p.Tyr416fs) duplication not provided [RCV003051233] Chr21:44525742..44525743 [GRCh38]
Chr21:45945625..45945626 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1825C>T (p.Arg609Cys) single nucleotide variant not provided [RCV003093458] Chr21:44504811 [GRCh38]
Chr21:45924694 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.107C>T (p.Ala36Val) single nucleotide variant Inborn genetic diseases [RCV002657158] Chr21:44567981 [GRCh38]
Chr21:45987865 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1192G>A (p.Val398Met) single nucleotide variant not specified [RCV004216877] Chr21:44574950 [GRCh38]
Chr21:45994827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1818C>T (p.Phe606=) single nucleotide variant not provided [RCV002607360] Chr21:44504818 [GRCh38]
Chr21:45924701 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1805T>C (p.Val602Ala) single nucleotide variant not provided [RCV003129072] Chr21:44504831 [GRCh38]
Chr21:45924714 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.502T>C (p.Ser168Pro) single nucleotide variant not specified [RCV004218714] Chr21:44558214 [GRCh38]
Chr21:45978097 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.791-11C>G single nucleotide variant not provided [RCV002583165] Chr21:44528594 [GRCh38]
Chr21:45948477 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.763G>A (p.Ala255Thr) single nucleotide variant not specified [RCV004098511] Chr21:44539388 [GRCh38]
Chr21:45959271 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1594T>A (p.Phe532Ile) single nucleotide variant not provided [RCV002606870] Chr21:44509359 [GRCh38]
Chr21:45929242 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1755T>G (p.Ser585Arg) single nucleotide variant not provided [RCV002606922] Chr21:44504881 [GRCh38]
Chr21:45924764 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.37del (p.Leu13fs) deletion not provided [RCV002613118] Chr21:44711478 [GRCh38]
Chr21:46131393 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_181684.3(KRTAP12-2):c.232G>A (p.Val78Met) single nucleotide variant not specified [RCV004077365] Chr21:44666655 [GRCh38]
Chr21:46086572 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1674C>T (p.Ser558=) single nucleotide variant not provided [RCV002607851] Chr21:44509279 [GRCh38]
Chr21:45929162 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.82+2_82+10del deletion not provided [RCV003072687] Chr21:44711423..44711431 [GRCh38]
Chr21:46131338..46131346 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_198694.3(KRTAP10-5):c.265T>G (p.Cys89Gly) single nucleotide variant not specified [RCV004314076] Chr21:44580314 [GRCh38]
Chr21:46000191 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.80C>G (p.Thr27Arg) single nucleotide variant not provided [RCV003227287] Chr21:44711435 [GRCh38]
Chr21:46131350 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.965G>A (p.Cys322Tyr) single nucleotide variant not specified [RCV004250896] Chr21:44601586 [GRCh38]
Chr21:46021501 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.16A>G (p.Met6Val) single nucleotide variant not specified [RCV004268936] Chr21:44646474 [GRCh38]
Chr21:46066391 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.842C>A (p.Ala281Asp) single nucleotide variant not specified [RCV004251995] Chr21:44539309 [GRCh38]
Chr21:45959192 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.518A>G (p.Tyr173Cys) single nucleotide variant not specified [RCV004249401] Chr21:44580061 [GRCh38]
Chr21:45999938 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198696.3(KRTAP10-3):c.91T>C (p.Cys31Arg) single nucleotide variant not specified [RCV004253711] Chr21:44558625 [GRCh38]
Chr21:45978508 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.733G>A (p.Val245Met) single nucleotide variant not specified [RCV004252433] Chr21:44627904 [GRCh38]
Chr21:46047821 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.142T>A (p.Ser48Thr) single nucleotide variant not specified [RCV004255660] Chr21:44580437 [GRCh38]
Chr21:46000314 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198697.2(KRTAP12-3):c.272G>A (p.Ser91Asn) single nucleotide variant not specified [RCV004271359] Chr21:44658251 [GRCh38]
Chr21:46078168 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.769T>A (p.Ser257Thr) single nucleotide variant not specified [RCV004248935] Chr21:44539382 [GRCh38]
Chr21:45959265 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.389C>G (p.Ser130Cys) single nucleotide variant not specified [RCV004248936] Chr21:44558327 [GRCh38]
Chr21:45978210 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198697.2(KRTAP12-3):c.41G>A (p.Cys14Tyr) single nucleotide variant not specified [RCV004250485] Chr21:44658020 [GRCh38]
Chr21:46077937 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.767G>C (p.Arg256Pro) single nucleotide variant not specified [RCV004255887] Chr21:44612867 [GRCh38]
Chr21:46032784 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.844A>T (p.Ser282Cys) single nucleotide variant not specified [RCV004259002] Chr21:44647302 [GRCh38]
Chr21:46067219 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.623G>A (p.Arg208His) single nucleotide variant not specified [RCV004250623] Chr21:44697824 [GRCh38]
Chr21:46117739 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.16A>G (p.Met6Val) single nucleotide variant not specified [RCV004261942] Chr21:44558700 [GRCh38]
Chr21:45978583 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.105C>A (p.Asp35Glu) single nucleotide variant not specified [RCV004252227] Chr21:44592380 [GRCh38]
Chr21:46012261 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.55G>C (p.Val19Leu) single nucleotide variant not specified [RCV004276862] Chr21:44540096 [GRCh38]
Chr21:45959979 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.395G>T (p.Cys132Phe) single nucleotide variant not specified [RCV004250321] Chr21:44646853 [GRCh38]
Chr21:46066770 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.131C>G (p.Thr44Ser) single nucleotide variant not specified [RCV004260728] Chr21:44540020 [GRCh38]
Chr21:45959903 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.88G>A (p.Asp30Asn) single nucleotide variant not specified [RCV004253946] Chr21:44600709 [GRCh38]
Chr21:46020609 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.496G>A (p.Ala166Thr) single nucleotide variant Inborn genetic diseases [RCV003211954] Chr21:44533731 [GRCh38]
Chr21:45953614 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.25T>C (p.Cys9Arg) single nucleotide variant not specified [RCV004331983] Chr21:44558691 [GRCh38]
Chr21:45978574 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.772G>A (p.Val258Met) single nucleotide variant not specified [RCV004249177] Chr21:44579807 [GRCh38]
Chr21:45999684 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.85C>A (p.Pro29Thr) single nucleotide variant not specified [RCV004251268] Chr21:44627256 [GRCh38]
Chr21:46047173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.353T>A (p.Val118Asp) single nucleotide variant not specified [RCV004273384] Chr21:44646811 [GRCh38]
Chr21:46066728 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.574G>A (p.Val192Ile) single nucleotide variant not specified [RCV004323725] Chr21:44539577 [GRCh38]
Chr21:45959460 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1150_1156del (p.Ile384fs) deletion not provided [RCV003142892] Chr21:44525833..44525839 [GRCh38]
Chr21:45945716..45945722 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1110C>A (p.His370Gln) single nucleotide variant not provided [RCV003142893] Chr21:44527331 [GRCh38]
Chr21:45947214 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.67C>T (p.Pro23Ser) single nucleotide variant not specified [RCV004275970] Chr21:44637484 [GRCh38]
Chr21:46057401 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.512C>T (p.Ser171Leu) single nucleotide variant not specified [RCV004250261] Chr21:44574270 [GRCh38]
Chr21:45994147 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.473T>C (p.Val158Ala) single nucleotide variant not specified [RCV004280933] Chr21:44646931 [GRCh38]
Chr21:46066848 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.739G>C (p.Val247Leu) single nucleotide variant not specified [RCV004280524] Chr21:44627910 [GRCh38]
Chr21:46047827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.91T>G (p.Cys31Gly) single nucleotide variant not specified [RCV004271772] Chr21:44637508 [GRCh38]
Chr21:46057425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.922T>C (p.Ser308Pro) single nucleotide variant not specified [RCV004262490] Chr21:44601543 [GRCh38]
Chr21:46021458 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.58T>C (p.Cys20Arg) single nucleotide variant not specified [RCV004269219] Chr21:44573816 [GRCh38]
Chr21:45993693 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.131C>G (p.Ala44Gly) single nucleotide variant not provided [RCV003228357] Chr21:44567957 [GRCh38]
Chr21:45987841 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.157G>A (p.Val53Ile) single nucleotide variant not provided [RCV003228528] Chr21:44567931 [GRCh38]
Chr21:45987815 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1804G>A (p.Val602Met) single nucleotide variant not provided [RCV003227360] Chr21:44504832 [GRCh38]
Chr21:45924715 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.542C>A (p.Ser181Tyr) single nucleotide variant not specified [RCV004290988] Chr21:44647000 [GRCh38]
Chr21:46066917 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.740C>T (p.Ser247Phe) single nucleotide variant not specified [RCV004293311] Chr21:44591745 [GRCh38]
Chr21:46011626 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.484T>C (p.Ser162Pro) single nucleotide variant not specified [RCV004308039] Chr21:44646942 [GRCh38]
Chr21:46066859 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.371G>A (p.Cys124Tyr) single nucleotide variant not provided [RCV003327092] Chr21:44592114 [GRCh38]
Chr21:46011995 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198689.3(KRTAP10-7):c.669T>G (p.Pro223=) single nucleotide variant not provided [RCV003327093] Chr21:44601290 [GRCh38]
Chr21:46021205 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198689.3(KRTAP10-7):c.370T>C (p.Tyr124His) single nucleotide variant not specified [RCV004340873] Chr21:44600991 [GRCh38]
Chr21:46020906 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.610A>T (p.Ser204Cys) single nucleotide variant not specified [RCV004345265] Chr21:44579969 [GRCh38]
Chr21:45999846 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.46C>T (p.Leu16Phe) single nucleotide variant not specified [RCV004340055] Chr21:44573804 [GRCh38]
Chr21:45993681 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.23T>C (p.Ile8Thr) single nucleotide variant not specified [RCV004355237] Chr21:44637440 [GRCh38]
Chr21:46057357 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.743T>A (p.Val248Asp) single nucleotide variant not specified [RCV004344843] Chr21:44539408 [GRCh38]
Chr21:45959291 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.436T>G (p.Cys146Gly) single nucleotide variant not specified [RCV004365938] Chr21:44646894 [GRCh38]
Chr21:46066811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.569G>A (p.Arg190His) single nucleotide variant not specified [RCV004340671] Chr21:44558147 [GRCh38]
Chr21:45978030 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.448T>C (p.Cys150Arg) single nucleotide variant not specified [RCV004361697] Chr21:44627619 [GRCh38]
Chr21:46047536 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.139C>T (p.Pro47Ser) single nucleotide variant not specified [RCV004343909] Chr21:44666748 [GRCh38]
Chr21:46086665 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1118G>A (p.Cys373Tyr) single nucleotide variant not specified [RCV004352446] Chr21:44574876 [GRCh38]
Chr21:45994753 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.593A>G (p.Tyr198Cys) single nucleotide variant not specified [RCV004336478] Chr21:44647051 [GRCh38]
Chr21:46066968 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.757G>A (p.Val253Ile) single nucleotide variant not specified [RCV004348214] Chr21:44647215 [GRCh38]
Chr21:46067132 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.307G>T (p.Ala103Ser) single nucleotide variant not specified [RCV004351844] Chr21:44697508 [GRCh38]
Chr21:46117423 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.772G>A (p.Ala258Thr) single nucleotide variant not specified [RCV004340336] Chr21:44647230 [GRCh38]
Chr21:46067147 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.556C>G (p.Pro186Ala) single nucleotide variant not specified [RCV004339646] Chr21:44558160 [GRCh38]
Chr21:45978043 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198697.2(KRTAP12-3):c.34C>G (p.Pro12Ala) single nucleotide variant not specified [RCV004355921] Chr21:44658013 [GRCh38]
Chr21:46077930 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.227C>T (p.Thr76Met) single nucleotide variant not specified [RCV004334958] Chr21:44627398 [GRCh38]
Chr21:46047315 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.310C>T (p.Pro104Ser) single nucleotide variant not specified [RCV004335224] Chr21:44574068 [GRCh38]
Chr21:45993945 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.266G>A (p.Cys89Tyr) single nucleotide variant not specified [RCV004344754] Chr21:44558450 [GRCh38]
Chr21:45978333 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.382C>G (p.Pro128Ala) single nucleotide variant not specified [RCV004337208] Chr21:44551077 [GRCh38]
Chr21:45970960 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.601G>A (p.Gly201Ser) single nucleotide variant Inborn genetic diseases [RCV003350292] Chr21:44531075 [GRCh38]
Chr21:45950958 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.605C>T (p.Thr202Met) single nucleotide variant not specified [RCV004342272] Chr21:44558111 [GRCh38]
Chr21:45977994 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.338T>A (p.Val113Asp) single nucleotide variant not specified [RCV004351998] Chr21:44666549 [GRCh38]
Chr21:46086466 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.86C>T (p.Pro29Leu) single nucleotide variant not specified [RCV004365540] Chr21:44627257 [GRCh38]
Chr21:46047174 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.94T>G (p.Cys32Gly) single nucleotide variant not specified [RCV004365541] Chr21:44627265 [GRCh38]
Chr21:46047182 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.1336G>T (p.Gly446Cys) single nucleotide variant not provided [RCV003872643] Chr21:44525653 [GRCh38]
Chr21:45945536 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.540T>C (p.Pro180=) single nucleotide variant not provided [RCV003431554] Chr21:44558176 [GRCh38]
Chr21:45978059 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.21T>C (p.Ser7=) single nucleotide variant not provided [RCV003431567] Chr21:44646479 [GRCh38]
Chr21:46066396 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.369T>C (p.Ala123=) single nucleotide variant not provided [RCV003431569] Chr21:44646827 [GRCh38]
Chr21:46066744 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1358G>A (p.Ser453Asn) single nucleotide variant not provided [RCV003442264] Chr21:44522091 [GRCh38]
Chr21:45941974 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1321G>C (p.Ala441Pro) single nucleotide variant TSPEAR-related condition [RCV003397774] Chr21:44525668 [GRCh38]
Chr21:45945551 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1274G>A (p.Arg425Gln) single nucleotide variant not provided [RCV003441538] Chr21:44525715 [GRCh38]
Chr21:45945598 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1065del (p.Lys355fs) deletion not provided [RCV003442526] Chr21:44527376 [GRCh38]
Chr21:45947259 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.2(TSPEAR):c.83-32773G>A single nucleotide variant not provided [RCV003431562] Chr21:46020662 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.331G>A (p.Val111Met) single nucleotide variant not provided [RCV003431561] Chr21:44592154 [GRCh38]
Chr21:46012035 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198690.3(KRTAP10-9):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV003431565] Chr21:44627243 [GRCh38]
Chr21:46047160 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.375G>A (p.Ser125=) single nucleotide variant not provided [RCV003431570] Chr21:44646833 [GRCh38]
Chr21:46066750 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.680G>A (p.Arg227His) single nucleotide variant not provided [RCV003431575] Chr21:44697881 [GRCh38]
Chr21:46117796 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.189G>A (p.Val63=) single nucleotide variant not provided [RCV003431556] Chr21:44573947 [GRCh38]
Chr21:45993824 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1770G>A (p.Glu590=) single nucleotide variant not provided [RCV003431550] Chr21:44504866 [GRCh38]
Chr21:45924749 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.778G>C (p.Ala260Pro) single nucleotide variant not provided [RCV003431552] Chr21:44539373 [GRCh38]
Chr21:45959256 [GRCh37]
Chr21:21q22.3		 benign
NM_198694.3(KRTAP10-5):c.172C>T (p.Pro58Ser) single nucleotide variant not provided [RCV003431560] Chr21:44580407 [GRCh38]
Chr21:46000284 [GRCh37]
Chr21:21q22.3		 benign
NM_198689.3(KRTAP10-7):c.1064C>G (p.Ser355Cys) single nucleotide variant not provided [RCV003431564] Chr21:44601685 [GRCh38]
Chr21:46021600 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198689.3(KRTAP10-7):c.246C>G (p.Thr82=) single nucleotide variant not provided [RCV003431563] Chr21:44600867 [GRCh38]
Chr21:46020782 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198690.3(KRTAP10-9):c.759C>T (p.Pro253=) single nucleotide variant not provided [RCV003431566] Chr21:44627930 [GRCh38]
Chr21:46047847 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.107C>A (p.Ala36Glu) single nucleotide variant not provided [RCV003431555] Chr21:44567981 [GRCh38]
Chr21:45987865 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV003431558] Chr21:44574373 [GRCh38]
Chr21:45994250 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181684.3(KRTAP12-2):c.334C>T (p.Pro112Ser) single nucleotide variant not provided [RCV003431573] Chr21:44666553 [GRCh38]
Chr21:46086470 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1494C>G (p.Gly498=) single nucleotide variant TSPEAR-related condition [RCV003908933]|not provided [RCV003431551] Chr21:44521955 [GRCh38]
Chr21:45941838 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.1146T>C (p.Ala382=) single nucleotide variant not provided [RCV003431559] Chr21:44574904 [GRCh38]
Chr21:45994781 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.603C>T (p.Pro201=) single nucleotide variant not provided [RCV003431571] Chr21:44647061 [GRCh38]
Chr21:46066978 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.62C>A (p.Ala21Asp) single nucleotide variant not provided [RCV003431553] Chr21:44540089 [GRCh38]
Chr21:45959972 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.573T>C (p.Cys191=) single nucleotide variant not provided [RCV003431557] Chr21:44574331 [GRCh38]
Chr21:45994208 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.81T>C (p.Cys27=) single nucleotide variant not provided [RCV003431568] Chr21:44646539 [GRCh38]
Chr21:46066456 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198698.1(KRTAP12-4):c.96G>A (p.Gly32=) single nucleotide variant not provided [RCV003431572] Chr21:44654519 [GRCh38]
Chr21:46074436 [GRCh37]
Chr21:21q22.3		 benign
NM_181684.3(KRTAP12-2):c.53G>A (p.Ser18Asn) single nucleotide variant not provided [RCV003431574] Chr21:44666834 [GRCh38]
Chr21:46086751 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.477T>A (p.Asp159Glu) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV003492900] Chr21:44539674 [GRCh38]
Chr21:45959557 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1150-19C>T single nucleotide variant not provided [RCV003880568] Chr21:44525858 [GRCh38]
Chr21:45945741 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.333A>C (p.Ala111=) single nucleotide variant not provided [RCV003694633] Chr21:44533894 [GRCh38]
Chr21:45953777 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.475G>T (p.Asp159Tyr) single nucleotide variant Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [RCV003492898] Chr21:44539676 [GRCh38]
Chr21:45959559 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.235C>T (p.Gln79Ter) single nucleotide variant not provided [RCV003713446] Chr21:44567853 [GRCh38]
Chr21:45987737 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.922+20G>C single nucleotide variant not provided [RCV003828593] Chr21:44528432 [GRCh38]
Chr21:45948315 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1336+1G>A single nucleotide variant not provided [RCV003713842] Chr21:44525652 [GRCh38]
Chr21:45945535 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.634-15T>G single nucleotide variant not provided [RCV003698597] Chr21:44529969 [GRCh38]
Chr21:45949852 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1150-18C>T single nucleotide variant not provided [RCV003811544] Chr21:44525857 [GRCh38]
Chr21:45945740 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1140C>T (p.Ile380=) single nucleotide variant not provided [RCV003548425] Chr21:44527301 [GRCh38]
Chr21:45947184 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1556A>T (p.Gln519Leu) single nucleotide variant not provided [RCV003670537] Chr21:44521893 [GRCh38]
Chr21:45941776 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1597C>T (p.Gln533Ter) single nucleotide variant not provided [RCV003702875] Chr21:44509356 [GRCh38]
Chr21:45929239 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_198691.3(KRTAP10-1):c.734G>A (p.Cys245Tyr) single nucleotide variant not specified [RCV004414658] Chr21:44539417 [GRCh38]
Chr21:45959300 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.829T>A (p.Cys277Ser) single nucleotide variant not specified [RCV004414660] Chr21:44539322 [GRCh38]
Chr21:45959205 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181688.3(KRTAP10-10):c.628G>T (p.Gly210Cys) single nucleotide variant not specified [RCV004414662] Chr21:44638045 [GRCh38]
Chr21:46057962 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.125C>G (p.Ser42Cys) single nucleotide variant not specified [RCV004414664] Chr21:44646583 [GRCh38]
Chr21:46066500 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198692.3(KRTAP10-11):c.154T>C (p.Cys52Arg) single nucleotide variant not specified [RCV004414666] Chr21:44646612 [GRCh38]
Chr21:46066529 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.131C>T (p.Pro44Leu) single nucleotide variant not specified [RCV004414673] Chr21:44697332 [GRCh38]
Chr21:46117247 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.248C>G (p.Ser83Trp) single nucleotide variant not specified [RCV004414675] Chr21:44697449 [GRCh38]
Chr21:46117364 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.437C>T (p.Pro146Leu) single nucleotide variant not specified [RCV004414681] Chr21:44697638 [GRCh38]
Chr21:46117553 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.94T>A (p.Cys32Ser) single nucleotide variant not specified [RCV004414704] Chr21:44558622 [GRCh38]
Chr21:45978505 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1102G>A (p.Val368Met) single nucleotide variant not specified [RCV004414707] Chr21:44574860 [GRCh38]
Chr21:45994737 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1123G>A (p.Val375Met) single nucleotide variant not specified [RCV004414708] Chr21:44574881 [GRCh38]
Chr21:45994758 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.353C>T (p.Pro118Leu) single nucleotide variant not specified [RCV004414719] Chr21:44580226 [GRCh38]
Chr21:46000103 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.1084C>A (p.Pro362Thr) single nucleotide variant not specified [RCV004414734] Chr21:44601705 [GRCh38]
Chr21:46021620 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.34G>A (p.Asp12Asn) single nucleotide variant not specified [RCV004414738] Chr21:44600655 [GRCh38]
Chr21:46020555 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198695.2(KRTAP10-8):c.214C>G (p.Leu72Val) single nucleotide variant not specified [RCV004414744] Chr21:44612314 [GRCh38]
Chr21:46032231 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.71T>C (p.Val24Ala) single nucleotide variant not specified [RCV004414749] Chr21:44612171 [GRCh38]
Chr21:46032088 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.283T>G (p.Cys95Gly) single nucleotide variant not specified [RCV004414754] Chr21:44627454 [GRCh38]
Chr21:46047371 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.784T>C (p.Cys262Arg) single nucleotide variant not specified [RCV004414759] Chr21:44627955 [GRCh38]
Chr21:46047872 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.373T>C (p.Cys125Arg) single nucleotide variant not specified [RCV004414773] Chr21:44666514 [GRCh38]
Chr21:46086431 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.60G>A (p.Thr20=) single nucleotide variant not provided [RCV003854928] Chr21:44711455 [GRCh38]
Chr21:46131370 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.540dup (p.Ile181fs) duplication not provided [RCV003840367] Chr21:44533686..44533687 [GRCh38]
Chr21:45953569..45953570 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1731G>C (p.Lys577Asn) single nucleotide variant not provided [RCV003726658] Chr21:44509222 [GRCh38]
Chr21:45929105 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1783G>T (p.Gly595Ter) single nucleotide variant not provided [RCV003724121] Chr21:44504853 [GRCh38]
Chr21:45924736 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.277_278del (p.Leu93fs) deletion not provided [RCV003670260] Chr21:44567810..44567811 [GRCh38]
Chr21:45987694..45987695 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1567-17C>T single nucleotide variant not provided [RCV003836309] Chr21:44509403 [GRCh38]
Chr21:45929286 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.290A>G (p.Gln97Arg) single nucleotide variant not specified [RCV004414653] Chr21:44539861 [GRCh38]
Chr21:45959744 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.193A>C (p.Ser65Arg) single nucleotide variant not specified [RCV004414667] Chr21:44646651 [GRCh38]
Chr21:46066568 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.463G>A (p.Val155Met) single nucleotide variant not specified [RCV004414669] Chr21:44646921 [GRCh38]
Chr21:46066838 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.187T>A (p.Cys63Ser) single nucleotide variant not specified [RCV004414674] Chr21:44697388 [GRCh38]
Chr21:46117303 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.307G>A (p.Ala103Thr) single nucleotide variant not specified [RCV004414677] Chr21:44697508 [GRCh38]
Chr21:46117423 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.115C>T (p.Pro39Ser) single nucleotide variant not specified [RCV004414686] Chr21:44551344 [GRCh38]
Chr21:45971227 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.41C>G (p.Thr14Ser) single nucleotide variant not specified [RCV004414691] Chr21:44551418 [GRCh38]
Chr21:45971301 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.748G>T (p.Gly250Cys) single nucleotide variant not specified [RCV004414693] Chr21:44550711 [GRCh38]
Chr21:45970594 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.493G>C (p.Val165Leu) single nucleotide variant not specified [RCV004414700] Chr21:44558223 [GRCh38]
Chr21:45978106 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.301G>A (p.Ala101Thr) single nucleotide variant not specified [RCV004414711] Chr21:44574059 [GRCh38]
Chr21:45993936 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198687.2(KRTAP10-4):c.467G>A (p.Cys156Tyr) single nucleotide variant not specified [RCV004414713] Chr21:44574225 [GRCh38]
Chr21:45994102 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.955G>A (p.Val319Met) single nucleotide variant not specified [RCV004414717] Chr21:44574713 [GRCh38]
Chr21:45994590 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.469G>A (p.Val157Met) single nucleotide variant not specified [RCV004414728] Chr21:44592016 [GRCh38]
Chr21:46011897 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.105C>A (p.Asp35Glu) single nucleotide variant not specified [RCV004414732] Chr21:44600726 [GRCh38]
Chr21:46020626 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.1066C>T (p.Arg356Cys) single nucleotide variant not specified [RCV004414733] Chr21:44601687 [GRCh38]
Chr21:46021602 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.278C>T (p.Ser93Phe) single nucleotide variant not specified [RCV004414737] Chr21:44600899 [GRCh38]
Chr21:46020814 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.383G>A (p.Cys128Tyr) single nucleotide variant not specified [RCV004414746] Chr21:44612483 [GRCh38]
Chr21:46032400 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.88C>T (p.Pro30Ser) single nucleotide variant not specified [RCV004414761] Chr21:44627259 [GRCh38]
Chr21:46047176 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181686.2(KRTAP12-1):c.278C>T (p.Pro93Leu) single nucleotide variant not specified [RCV004414769] Chr21:44681846 [GRCh38]
Chr21:46101761 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.130G>A (p.Val44Met) single nucleotide variant not specified [RCV004414771] Chr21:44666757 [GRCh38]
Chr21:46086674 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.492G>A (p.Val164=) single nucleotide variant not provided [RCV003673719] Chr21:44533735 [GRCh38]
Chr21:45953618 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.685T>C (p.Ser229Pro) single nucleotide variant not specified [RCV004414656] Chr21:44539466 [GRCh38]
Chr21:45959349 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.724C>T (p.Arg242Cys) single nucleotide variant not specified [RCV004414684] Chr21:44697925 [GRCh38]
Chr21:46117840 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.98C>A (p.Thr33Asn) single nucleotide variant not specified [RCV004414694] Chr21:44551361 [GRCh38]
Chr21:45971244 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.215C>T (p.Thr72Ile) single nucleotide variant not specified [RCV004414695] Chr21:44558501 [GRCh38]
Chr21:45978384 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.648A>T (p.Arg216Ser) single nucleotide variant not specified [RCV004414723] Chr21:44579931 [GRCh38]
Chr21:45999808 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.757C>T (p.Arg253Cys) single nucleotide variant not specified [RCV004414725] Chr21:44579822 [GRCh38]
Chr21:45999699 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.95G>T (p.Trp32Leu) single nucleotide variant not specified [RCV004414742] Chr21:44600716 [GRCh38]
Chr21:46020616 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.653G>A (p.Arg218Gln) single nucleotide variant not specified [RCV004414747] Chr21:44612753 [GRCh38]
Chr21:46032670 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.713G>A (p.Ser238Asn) single nucleotide variant not specified [RCV004414748] Chr21:44612813 [GRCh38]
Chr21:46032730 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.131C>A (p.Thr44Asn) single nucleotide variant not specified [RCV004414752] Chr21:44627302 [GRCh38]
Chr21:46047219 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.307G>A (p.Val103Ile) single nucleotide variant not specified [RCV004414755] Chr21:44627478 [GRCh38]
Chr21:46047395 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.863A>G (p.Gln288Arg) single nucleotide variant not specified [RCV004414760] Chr21:44628034 [GRCh38]
Chr21:46047951 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181686.2(KRTAP12-1):c.197C>T (p.Ala66Val) single nucleotide variant not specified [RCV004414768] Chr21:44681927 [GRCh38]
Chr21:46101842 [GRCh37]
Chr21:21q22.3		 likely benign
NM_181684.3(KRTAP12-2):c.113T>C (p.Val38Ala) single nucleotide variant not specified [RCV004414770] Chr21:44666774 [GRCh38]
Chr21:46086691 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.80C>T (p.Pro27Leu) single nucleotide variant not specified [RCV004414774] Chr21:44666807 [GRCh38]
Chr21:46086724 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1336+9G>T single nucleotide variant not provided [RCV003837171] Chr21:44525644 [GRCh38]
Chr21:45945527 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1567-20C>T single nucleotide variant not provided [RCV003835879] Chr21:44509406 [GRCh38]
Chr21:45929289 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.828G>A (p.Pro276=) single nucleotide variant not provided [RCV003818584] Chr21:44528546 [GRCh38]
Chr21:45948429 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1149+14C>T single nucleotide variant not provided [RCV003844545] Chr21:44527278 [GRCh38]
Chr21:45947161 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1050A>G (p.Thr350=) single nucleotide variant not provided [RCV003818905] Chr21:44527391 [GRCh38]
Chr21:45947274 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1707C>T (p.Asn569=) single nucleotide variant not provided [RCV003733208] Chr21:44509246 [GRCh38]
Chr21:45929129 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1435T>G (p.Trp479Gly) single nucleotide variant not provided [RCV003568252] Chr21:44522014 [GRCh38]
Chr21:45941897 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.715G>T (p.Val239Leu) single nucleotide variant not provided [RCV003707072] Chr21:44529873 [GRCh38]
Chr21:45949756 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_144991.3(TSPEAR):c.1463C>A (p.Ser488Ter) single nucleotide variant not provided [RCV003846269] Chr21:44521986 [GRCh38]
Chr21:45941869 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1280G>A (p.Trp427Ter) single nucleotide variant not provided [RCV003869480] Chr21:44525709 [GRCh38]
Chr21:45945592 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.379C>T (p.Gln127Ter) single nucleotide variant not provided [RCV003704945] Chr21:44533848 [GRCh38]
Chr21:45953731 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.1884G>A (p.Ala628=) single nucleotide variant not provided [RCV003719958] Chr21:44499909 [GRCh38]
Chr21:45919792 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1699G>A (p.Glu567Lys) single nucleotide variant not provided [RCV003728279] Chr21:44509254 [GRCh38]
Chr21:45929137 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1574G>A (p.Gly525Asp) single nucleotide variant not provided [RCV003550496] Chr21:44509379 [GRCh38]
Chr21:45929262 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_144991.3(TSPEAR):c.1995G>A (p.Arg665=) single nucleotide variant not provided [RCV003729873] Chr21:44499798 [GRCh38]
Chr21:45919681 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1687T>C (p.Ser563Pro) single nucleotide variant not provided [RCV003845170] Chr21:44509266 [GRCh38]
Chr21:45929149 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.915G>A (p.Val305=) single nucleotide variant not provided [RCV003870274] Chr21:44528459 [GRCh38]
Chr21:45948342 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.790+5G>C single nucleotide variant not provided [RCV003563996] Chr21:44529793 [GRCh38]
Chr21:45949676 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_144991.3(TSPEAR):c.98A>C (p.Asp33Ala) single nucleotide variant not provided [RCV003841626] Chr21:44567990 [GRCh38]
Chr21:45987874 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1549C>T (p.Leu517Phe) single nucleotide variant not provided [RCV003844693] Chr21:44521900 [GRCh38]
Chr21:45941783 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1217G>A (p.Trp406Ter) single nucleotide variant not provided [RCV003707455] Chr21:44525772 [GRCh38]
Chr21:45945655 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_144991.3(TSPEAR):c.354G>T (p.Leu118=) single nucleotide variant not provided [RCV003727443] Chr21:44533873 [GRCh38]
Chr21:45953756 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1464G>A (p.Ser488=) single nucleotide variant not provided [RCV003819984] Chr21:44521985 [GRCh38]
Chr21:45941868 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1370A>C (p.Lys457Thr) single nucleotide variant not provided [RCV003677638] Chr21:44522079 [GRCh38]
Chr21:45941962 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1856+20G>A single nucleotide variant not provided [RCV003845402] Chr21:44504760 [GRCh38]
Chr21:45924643 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198691.3(KRTAP10-1):c.821G>A (p.Arg274His) single nucleotide variant not specified [RCV004414659] Chr21:44539330 [GRCh38]
Chr21:45959213 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.131G>C (p.Ser44Thr) single nucleotide variant not specified [RCV004414665] Chr21:44646589 [GRCh38]
Chr21:46066506 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198696.3(KRTAP10-3):c.425G>A (p.Arg142His) single nucleotide variant not specified [RCV004414698] Chr21:44558291 [GRCh38]
Chr21:45978174 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.625G>T (p.Ala209Ser) single nucleotide variant not specified [RCV004414703] Chr21:44558091 [GRCh38]
Chr21:45977974 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.529T>C (p.Cys177Arg) single nucleotide variant not specified [RCV004414721] Chr21:44580050 [GRCh38]
Chr21:45999927 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.678G>C (p.Gln226His) single nucleotide variant not specified [RCV004414731] Chr21:44591807 [GRCh38]
Chr21:46011688 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.494G>A (p.Cys165Tyr) single nucleotide variant not specified [RCV004414740] Chr21:44601115 [GRCh38]
Chr21:46021030 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.370T>C (p.Cys124Arg) single nucleotide variant not specified [RCV004414745] Chr21:44612470 [GRCh38]
Chr21:46032387 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.151A>T (p.Ser51Cys) single nucleotide variant not specified [RCV004414753] Chr21:44627322 [GRCh38]
Chr21:46047239 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198690.3(KRTAP10-9):c.719G>A (p.Arg240Lys) single nucleotide variant not specified [RCV004414758] Chr21:44627890 [GRCh38]
Chr21:46047807 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181686.2(KRTAP12-1):c.172G>A (p.Val58Met) single nucleotide variant not specified [RCV004414767] Chr21:44681952 [GRCh38]
Chr21:46101867 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_181684.3(KRTAP12-2):c.226G>C (p.Val76Leu) single nucleotide variant not specified [RCV004414772] Chr21:44666661 [GRCh38]
Chr21:46086578 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.752G>A (p.Arg251His) single nucleotide variant not provided [RCV003885743] Chr21:44612852 [GRCh38]
Chr21:46032769 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1 copy number loss not provided [RCV004442739] Chr21:45726806..48093361 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.260C>T (p.Pro87Leu) single nucleotide variant not specified [RCV004414651] Chr21:44539891 [GRCh38]
Chr21:45959774 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.385C>T (p.Pro129Ser) single nucleotide variant not specified [RCV004414654] Chr21:44539766 [GRCh38]
Chr21:45959649 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.448G>T (p.Val150Leu) single nucleotide variant not specified [RCV004414655] Chr21:44539703 [GRCh38]
Chr21:45959586 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004414661] Chr21:44540054 [GRCh38]
Chr21:45959937 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.275C>T (p.Pro92Leu) single nucleotide variant not specified [RCV004414676] Chr21:44697476 [GRCh38]
Chr21:46117391 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.694G>A (p.Gly232Arg) single nucleotide variant not specified [RCV004414683] Chr21:44697895 [GRCh38]
Chr21:46117810 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.72G>C (p.Glu24Asp) single nucleotide variant not specified [RCV004414692] Chr21:44551387 [GRCh38]
Chr21:45971270 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.301G>A (p.Val101Met) single nucleotide variant not specified [RCV004414696] Chr21:44558415 [GRCh38]
Chr21:45978298 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.142G>A (p.Ala48Thr) single nucleotide variant not specified [RCV004414726] Chr21:44592343 [GRCh38]
Chr21:46012224 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1353C>T (p.Ile451=) single nucleotide variant TSPEAR-related condition [RCV003944262] Chr21:44522096 [GRCh38]
Chr21:45941979 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.345C>T (p.Asp115=) single nucleotide variant TSPEAR-related condition [RCV003947073] Chr21:44533882 [GRCh38]
Chr21:45953765 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.453_468del (p.Leu152fs) deletion TSPEAR-related condition [RCV003902307] Chr21:44533759..44533774 [GRCh38]
Chr21:45953642..45953657 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_198691.3(KRTAP10-1):c.704T>C (p.Leu235Pro) single nucleotide variant not specified [RCV004414657] Chr21:44539447 [GRCh38]
Chr21:45959330 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.343T>C (p.Cys115Arg) single nucleotide variant not specified [RCV004414668] Chr21:44646801 [GRCh38]
Chr21:46066718 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.89C>G (p.Pro30Arg) single nucleotide variant not specified [RCV004414672] Chr21:44646547 [GRCh38]
Chr21:46066464 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.259C>T (p.Pro87Ser) single nucleotide variant not specified [RCV004414688] Chr21:44551200 [GRCh38]
Chr21:45971083 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.46T>G (p.Ser16Ala) single nucleotide variant not specified [RCV004414699] Chr21:44558670 [GRCh38]
Chr21:45978553 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.514G>A (p.Val172Met) single nucleotide variant not specified [RCV004414701] Chr21:44558202 [GRCh38]
Chr21:45978085 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.1081G>A (p.Val361Met) single nucleotide variant not specified [RCV004414705] Chr21:44574839 [GRCh38]
Chr21:45994716 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.884C>G (p.Ser295Cys) single nucleotide variant not specified [RCV004414715] Chr21:44574642 [GRCh38]
Chr21:45994519 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.587C>T (p.Ser196Phe) single nucleotide variant not specified [RCV004414722] Chr21:44579992 [GRCh38]
Chr21:45999869 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.649C>T (p.Pro217Ser) single nucleotide variant not specified [RCV004414724] Chr21:44579930 [GRCh38]
Chr21:45999807 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.154T>C (p.Cys52Arg) single nucleotide variant not specified [RCV004414727] Chr21:44592331 [GRCh38]
Chr21:46012212 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.352G>T (p.Val118Phe) single nucleotide variant not specified [RCV004414739] Chr21:44600973 [GRCh38]
Chr21:46020888 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198698.1(KRTAP12-4):c.142C>T (p.Pro48Ser) single nucleotide variant not specified [RCV004414777] Chr21:44654473 [GRCh38]
Chr21:46074390 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198698.1(KRTAP12-4):c.332G>C (p.Gly111Ala) single nucleotide variant not specified [RCV004414778] Chr21:44654283 [GRCh38]
Chr21:46074200 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.155G>A (p.Arg52His) single nucleotide variant not specified [RCV004414650] Chr21:44539996 [GRCh38]
Chr21:45959879 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.343T>C (p.Cys115Arg) single nucleotide variant not specified [RCV004414679] Chr21:44697544 [GRCh38]
Chr21:46117459 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.38G>A (p.Arg13His) single nucleotide variant not specified [RCV004414680] Chr21:44697239 [GRCh38]
Chr21:46117154 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198696.3(KRTAP10-3):c.599G>A (p.Arg200His) single nucleotide variant not specified [RCV004414702] Chr21:44558117 [GRCh38]
Chr21:45978000 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.197C>T (p.Pro66Leu) single nucleotide variant not specified [RCV004414710] Chr21:44573955 [GRCh38]
Chr21:45993832 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.946G>A (p.Gly316Ser) single nucleotide variant not specified [RCV004414716] Chr21:44574704 [GRCh38]
Chr21:45994581 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.599G>A (p.Cys200Tyr) single nucleotide variant not specified [RCV004414730] Chr21:44591886 [GRCh38]
Chr21:46011767 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.736C>G (p.Leu246Val) single nucleotide variant not specified [RCV004414750] Chr21:44612836 [GRCh38]
Chr21:46032753 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198690.3(KRTAP10-9):c.337G>A (p.Val113Ile) single nucleotide variant not specified [RCV004414756] Chr21:44627508 [GRCh38]
Chr21:46047425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198697.2(KRTAP12-3):c.112G>A (p.Val38Met) single nucleotide variant not specified [RCV004414775] Chr21:44658091 [GRCh38]
Chr21:46078008 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198698.1(KRTAP12-4):c.46G>T (p.Gly16Cys) single nucleotide variant not specified [RCV004414779] Chr21:44654569 [GRCh38]
Chr21:46074486 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.754T>C (p.Cys252Arg) single nucleotide variant not provided [RCV003885892] Chr21:44539397 [GRCh38]
Chr21:45959280 [GRCh37]
Chr21:21q22.3		 benign
NM_144991.3(TSPEAR):c.1726_1728del (p.Val576del) deletion Tooth agenesis, selective, 10 [RCV003990524] Chr21:44509225..44509227 [GRCh38]
Chr21:45929108..45929110 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198691.3(KRTAP10-1):c.272C>T (p.Thr91Ile) single nucleotide variant not specified [RCV004414652] Chr21:44539879 [GRCh38]
Chr21:45959762 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198692.3(KRTAP10-11):c.854T>C (p.Leu285Pro) single nucleotide variant not specified [RCV004414671] Chr21:44647312 [GRCh38]
Chr21:46067229 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198699.1(KRTAP10-12):c.322G>A (p.Val108Ile) single nucleotide variant not specified [RCV004414678] Chr21:44697523 [GRCh38]
Chr21:46117438 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198699.1(KRTAP10-12):c.485G>A (p.Cys162Tyr) single nucleotide variant not specified [RCV004414682] Chr21:44697686 [GRCh38]
Chr21:46117601 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.155G>C (p.Cys52Ser) single nucleotide variant not specified [RCV004414687] Chr21:44551304 [GRCh38]
Chr21:45971187 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198693.4(KRTAP10-2):c.32G>T (p.Ser11Ile) single nucleotide variant not specified [RCV004414689] Chr21:44551427 [GRCh38]
Chr21:45971310 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.119C>A (p.Pro40His) single nucleotide variant not specified [RCV004414709] Chr21:44573877 [GRCh38]
Chr21:45993754 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198687.2(KRTAP10-4):c.335C>A (p.Pro112His) single nucleotide variant not specified [RCV004414712] Chr21:44574093 [GRCh38]
Chr21:45993970 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.142T>C (p.Ser48Pro) single nucleotide variant not specified [RCV004414718] Chr21:44580437 [GRCh38]
Chr21:46000314 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198694.3(KRTAP10-5):c.355A>G (p.Thr119Ala) single nucleotide variant not specified [RCV004414720] Chr21:44580224 [GRCh38]
Chr21:46000101 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198689.3(KRTAP10-7):c.134C>A (p.Pro45His) single nucleotide variant not specified [RCV004414735] Chr21:44600755 [GRCh38]
Chr21:46020668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198689.3(KRTAP10-7):c.634T>C (p.Ser212Pro) single nucleotide variant not specified [RCV004414741] Chr21:44601255 [GRCh38]
Chr21:46021170 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198695.2(KRTAP10-8):c.742T>C (p.Phe248Leu) single nucleotide variant not specified [RCV004414751] Chr21:44612842 [GRCh38]
Chr21:46032759 [GRCh37]
Chr21:21q22.3		 likely benign
NM_144991.3(TSPEAR):c.1165G>A (p.Ala389Thr) single nucleotide variant Inborn genetic diseases [RCV004476676] Chr21:44525824 [GRCh38]
Chr21:45945707 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1270G>A (p.Ala424Thr) single nucleotide variant Inborn genetic diseases [RCV004476677] Chr21:44525719 [GRCh38]
Chr21:45945602 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1082T>A (p.Phe361Tyr) single nucleotide variant Inborn genetic diseases [RCV004476675] Chr21:44527359 [GRCh38]
Chr21:45947242 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.1925C>T (p.Ala642Val) single nucleotide variant Inborn genetic diseases [RCV004476680] Chr21:44499868 [GRCh38]
Chr21:45919751 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_144991.3(TSPEAR):c.582A>T (p.Lys194Asn) single nucleotide variant Inborn genetic diseases [RCV004476682] Chr21:44531094 [GRCh38]
Chr21:45950977 [GRCh37]
Chr21:21q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1279
Count of miRNA genes:756
Interacting mature miRNAs:877
Transcripts:ENST00000323084, ENST00000397916
Prediction methods: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
SHGC-7553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,041,375 - 46,041,514UniSTSGRCh37
GRCh372145,964,548 - 45,964,701UniSTSGRCh37
Build 362144,788,976 - 44,789,129RGDNCBI36
Celera2131,072,221 - 31,072,374RGD
Celera2131,149,011 - 31,149,150UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2131,338,371 - 31,338,524UniSTS
HuRef2131,415,551 - 31,415,690UniSTS
SHGC-51971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,934,067 - 45,934,213UniSTSGRCh37
Build 362144,758,495 - 44,758,641RGDNCBI36
Celera2131,041,743 - 31,041,889RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,307,978 - 31,308,124UniSTS
TNG Radiation Hybrid Map2118917.0UniSTS
RH103979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,067,296 - 46,067,433UniSTSGRCh37
Build 362144,891,724 - 44,891,861RGDNCBI36
Celera2131,174,932 - 31,175,069RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,441,448 - 31,441,585UniSTS
GeneMap99-GB4 RH Map21248.52UniSTS
D21S171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,992,640 - 45,992,843UniSTSGRCh37
GRCh372145,992,667 - 45,992,786UniSTSGRCh37
Build 362144,817,068 - 44,817,271RGDNCBI36
Celera2131,100,337 - 31,100,456UniSTS
Celera2131,100,310 - 31,100,513RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,366,462 - 31,366,655UniSTS
HuRef2131,366,489 - 31,366,598UniSTS
STS_CEB282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,953,883 - 45,954,527UniSTSGRCh37
Build 362144,778,311 - 44,778,955RGDNCBI36
Celera2131,061,559 - 31,062,203RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,327,710 - 31,328,354UniSTS
SHGC-51854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,041,464 - 46,041,574UniSTSGRCh37
Build 362144,865,892 - 44,866,002RGDNCBI36
Celera2131,149,100 - 31,149,210RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,415,640 - 31,415,750UniSTS
TNG Radiation Hybrid Map2118967.0UniSTS
SHGC-87708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,918,355 - 45,918,552UniSTSGRCh37
Build 362144,742,783 - 44,742,980RGDNCBI36
Celera2131,026,031 - 31,026,228RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,292,270 - 31,292,467UniSTS
TNG Radiation Hybrid Map2118913.0UniSTS
GeneMap99-GB4 RH Map21245.47UniSTS
NCBI RH Map21407.7UniSTS
SHGC-51969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,928,977 - 45,929,171UniSTSGRCh37
Build 362144,753,405 - 44,753,599RGDNCBI36
Celera2131,036,653 - 31,036,847RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,302,888 - 31,303,082UniSTS
TNG Radiation Hybrid Map2118925.0UniSTS
SHGC-87699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,938,338 - 45,938,507UniSTSGRCh37
Build 362144,762,766 - 44,762,935RGDNCBI36
Celera2131,046,014 - 31,046,183RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,312,249 - 31,312,418UniSTS
GeneMap99-GB4 RH Map21245.47UniSTS
NCBI RH Map21407.7UniSTS
SHGC-51970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,918,179 - 45,918,424UniSTSGRCh37
Build 362144,742,607 - 44,742,852RGDNCBI36
Celera2131,025,855 - 31,026,100RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,292,094 - 31,292,339UniSTS
TNG Radiation Hybrid Map2118917.0UniSTS
KRTAP12-3__6347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,077,850 - 46,078,401UniSTSGRCh37
Build 362144,902,278 - 44,902,829RGDNCBI36
Celera2131,185,486 - 31,186,037RGD
HuRef2131,452,021 - 31,452,571UniSTS
HuRef2131,452,021 - 31,452,570UniSTS
KRTAP12-4__6348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,073,936 - 46,074,545UniSTSGRCh37
Build 362144,898,364 - 44,898,973RGDNCBI36
Celera2131,181,572 - 31,182,181RGD
HuRef2131,448,114 - 31,448,723UniSTS
RH75464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,938,172 - 45,938,632UniSTSGRCh37
Celera2131,045,848 - 31,046,308UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2131,312,083 - 31,312,543UniSTS
D21S171  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.3UniSTS


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 4 7 38 3 1 10 24 1 26 37
Low 383 514 1070 154 288 154 849 242 480 47 547 995 186 304
Below cutoff 2001 2215 515 396 1115 254 3019 1634 2893 177 753 478 147 983 2098 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001272037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ487962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323084   ⟹   ENSP00000321987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,497,893 - 44,711,572 (-)Ensembl
RefSeq Acc Id: ENST00000397916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,508,507 - 44,573,816 (-)Ensembl
RefSeq Acc Id: ENST00000642437   ⟹   ENSP00000496535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,499,098 - 44,711,547 (-)Ensembl
RefSeq Acc Id: NM_001272037   ⟹   NP_001258966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,497,893 - 44,711,572 (-)NCBI
HuRef2131,291,690 - 31,505,530 (-)NCBI
CHM1_12145,478,651 - 45,692,355 (-)NCBI
T2T-CHM13v2.02142,858,376 - 43,072,006 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144991   ⟹   NP_659428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,497,893 - 44,711,572 (-)NCBI
GRCh372145,917,775 - 46,131,495 (-)NCBI
Build 362144,742,203 - 44,955,923 (-)NCBI Archive
Celera2131,025,451 - 31,239,063 (-)RGD
HuRef2131,291,690 - 31,505,530 (-)RGD
CHM1_12145,478,651 - 45,692,355 (-)NCBI
T2T-CHM13v2.02142,858,376 - 43,072,006 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_659428   ⟸   NM_144991
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8WU66 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258966   ⟸   NM_001272037
- Peptide Label: isoform 2
- UniProtKB: Q8WU66 (UniProtKB/Swiss-Prot),   A0A087WZ72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000321987   ⟸   ENST00000323084
RefSeq Acc Id: ENSP00000496535   ⟸   ENST00000642437
Protein Domains
Laminin G-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WU66-F1-model_v2 AlphaFold Q8WU66 1-669 view protein structure

Promoters
RGD ID:13603030
Promoter ID:EPDNEW_H27698
Type:multiple initiation site
Name:TSPEAR_3
Description:thrombospondin type laminin G domain and EAR repeats
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27699  EPDNEW_H27700  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,699,861 - 44,699,921EPDNEW
RGD ID:13603028
Promoter ID:EPDNEW_H27699
Type:initiation region
Name:TSPEAR_1
Description:thrombospondin type laminin G domain and EAR repeats
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27698  EPDNEW_H27700  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,711,572 - 44,711,632EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1268 AgrOrtholog
COSMIC TSPEAR COSMIC
Ensembl Genes ENSG00000175894 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323084 ENTREZGENE
  ENST00000323084.9 UniProtKB/Swiss-Prot
  ENST00000642437.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot
GTEx ENSG00000175894 GTEx
HGNC ID HGNC:1268 ENTREZGENE
Human Proteome Map TSPEAR Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  EAR UniProtKB/Swiss-Prot
  EPTP UniProtKB/Swiss-Prot
  TSPN-like_N UniProtKB/Swiss-Prot
KEGG Report hsa:54084 UniProtKB/Swiss-Prot
NCBI Gene 54084 ENTREZGENE
OMIM 612920 OMIM
PANTHER THROMBOSPONDIN-TYPE LAMININ G DOMAIN AND EAR REPEAT-CONTAINING UniProtKB/Swiss-Prot
  THROMBOSPONDIN-TYPE LAMININ G DOMAIN AND EAR REPEAT-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam EPTP UniProtKB/Swiss-Prot
PharmGKB PA25824 PharmGKB
PROSITE EAR UniProtKB/Swiss-Prot
SMART TSPN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot
UniProt A0A087WZ72 ENTREZGENE
  A0A2R8YFK6_HUMAN UniProtKB/TrEMBL
  Q8WU66 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 TSPEAR  thrombospondin type laminin G domain and EAR repeats    thrombospondin-type laminin G domain and EAR repeats  Symbol and/or name change 5135510 APPROVED
2011-07-27 TSPEAR  thrombospondin-type laminin G domain and EAR repeats  C21orf29  chromosome 21 open reading frame 29  Symbol and/or name change 5135510 APPROVED