GDF6 (growth differentiation factor 6) - Rat Genome Database

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Gene: GDF6 (growth differentiation factor 6) Homo sapiens
Analyze
Symbol: GDF6
Name: growth differentiation factor 6
RGD ID: 1347722
HGNC Page HGNC
Description: Predicted to have cytokine activity and identical protein binding activity. Involved in positive regulation of chondrocyte differentiation; positive regulation of nitrogen compound metabolic process; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to extracellular space. Implicated in several diseases, including Klippel-Feil syndrome 1; Leber congenital amaurosis 17; cleft lip; isolated microphthalmia 4; and multiple synostoses syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMP-13; BMP13; bone morphogenetic protein 13; CDMP2; GDF-6; growth/differentiation factor 16; growth/differentiation factor 6; KFM; KFS; KFS1; KFSL; Klip-Feil malformation; Klippel-Feil malformation; Klippel-Feil syndrome; LCA17; MCOP4; MCOPCB6; MGC158100; MGC158101; SCDO4; segmentation syndrome 1; SGM1; SYNS4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,142,333 - 96,160,806 (-)EnsemblGRCh38hg38GRCh38
GRCh38896,142,333 - 96,160,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,154,561 - 97,173,034 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,223,734 - 97,242,196 (-)NCBINCBI36hg18NCBI36
Build 34897,223,737 - 97,242,196NCBI
Celera893,340,541 - 93,359,001 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,360,118 - 92,378,582 (-)NCBIHuRef
CHM1_1897,194,809 - 97,213,265 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cranial nerve morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormal temporal bone morphology  (IAGP)
Abnormal vertebral segmentation and fusion  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of limb bone morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the optic disc  (IAGP)
Abnormality of the ribs  (IAGP)
Absent testis  (IAGP)
Anal atresia  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Bimanual synkinesia  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Cataract  (IAGP)
Cervical C2/C3 vertebral fusion  (IAGP)
Cervicomedullary schisis  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Coloboma  (IAGP)
Congenital muscular torticollis  (IAGP)
Digenic inheritance  (IAGP)
Ectopic anus  (IAGP)
Encephalocele  (IAGP)
Facial asymmetry  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Heterogeneous  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Limited neck range of motion  (IAGP)
Low posterior hairline  (IAGP)
Microphthalmia  (IAGP)
Mixed hearing impairment  (IAGP)
Nystagmus  (IAGP)
Optic disc hypoplasia  (IAGP)
Otosclerosis  (IAGP)
Overlapping toe  (IAGP)
Pes planus  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior fossa cyst  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severely reduced visual acuity  (IAGP)
Short neck  (IAGP)
Spina bifida  (IAGP)
Sprengel anomaly  (IAGP)
Tarsal synostosis  (IAGP)
Ultra-low vision with retained motion projection  (IAGP)
Unilateral renal agenesis  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
References

Additional References at PubMed
PMID:933127   PMID:7961761   PMID:8145850   PMID:9057810   PMID:9218508   PMID:9525338   PMID:10022976   PMID:10448738   PMID:12027540   PMID:12477932   PMID:12606286   PMID:15246821  
PMID:15489334   PMID:16049014   PMID:17236135   PMID:18425797   PMID:19129173   PMID:19240811   PMID:19492402   PMID:20057906   PMID:20301552   PMID:20334610   PMID:20494911   PMID:20734064  
PMID:21702718   PMID:21873635   PMID:22049084   PMID:23307924   PMID:24442880   PMID:25416513   PMID:26134557   PMID:26184900   PMID:26643732   PMID:29284606   PMID:30285347   PMID:30585266  
PMID:32369452   PMID:32992671  


Genomics

Comparative Map Data
GDF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,142,333 - 96,160,806 (-)EnsemblGRCh38hg38GRCh38
GRCh38896,142,333 - 96,160,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,154,561 - 97,173,034 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,223,734 - 97,242,196 (-)NCBINCBI36hg18NCBI36
Build 34897,223,737 - 97,242,196NCBI
Celera893,340,541 - 93,359,001 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,360,118 - 92,378,582 (-)NCBIHuRef
CHM1_1897,194,809 - 97,213,265 (-)NCBICHM1_1
Gdf6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3949,844,372 - 9,862,345 (+)NCBIGRCm39mm39
GRCm39 Ensembl49,844,372 - 9,862,345 (+)Ensembl
GRCm3849,844,372 - 9,862,345 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl49,844,372 - 9,862,345 (+)EnsemblGRCm38mm10GRCm38
MGSCv3749,771,519 - 9,789,492 (+)NCBIGRCm37mm9NCBIm37
MGSCv3649,771,519 - 9,789,492 (+)NCBImm8
Celera49,660,031 - 9,677,998 (+)NCBICelera
Cytogenetic Map4A1NCBI
Gdf6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2522,996,246 - 23,012,567 (+)NCBI
Rnor_6.0 Ensembl523,056,347 - 23,074,599 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0523,056,345 - 23,072,666 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0527,786,775 - 27,803,096 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4523,739,175 - 23,756,140 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1523,755,784 - 23,755,986 (+)NCBI
Celera522,249,415 - 22,265,738 (+)NCBICelera
Cytogenetic Map5q13NCBI
Gdf6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541712,152,448 - 12,169,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541712,152,448 - 12,169,173 (-)NCBIChiLan1.0ChiLan1.0
GDF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1894,965,399 - 94,984,456 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0892,767,401 - 92,785,955 (-)NCBIMhudiblu_PPA_v0panPan3
GDF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12940,676,851 - 40,694,174 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2940,676,851 - 40,694,174 (-)NCBICanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02940,868,628 - 40,885,256 (-)NCBI
UNSW_CanFamBas_1.02940,880,805 - 40,897,837 (-)NCBI
UU_Cfam_GSD_1.02941,342,023 - 41,361,005 (-)NCBI
Gdf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530338,894,428 - 38,952,490 (+)NCBI
SpeTri2.0NW_00493647046,361,528 - 46,379,576 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl440,473,013 - 40,489,032 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1440,473,015 - 40,491,142 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GDF6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1891,105,663 - 91,124,059 (-)NCBI
ChlSab1.1 Ensembl891,107,857 - 91,123,874 (-)Ensembl
Gdf6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247633,473,047 - 3,490,346 (-)NCBI

Position Markers
RH119897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,172,430 - 97,172,639UniSTSGRCh37
Build 36897,241,606 - 97,241,815RGDNCBI36
Celera893,358,411 - 93,358,620RGD
Cytogenetic Map8q22.1UniSTS
HuRef892,377,992 - 92,378,201UniSTS
TNG Radiation Hybrid Map846624.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1315
Count of miRNA genes:577
Interacting mature miRNAs:663
Transcripts:ENST00000287020
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 3 27 5 3 3 3 8 28 18 40 20 14 2 1 1
Low 1805 1680 775 78 201 79 1638 952 1147 152 923 851 4 966 1063 4
Below cutoff 494 698 813 449 513 318 2287 1011 2473 172 412 572 138 1 229 1450 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ537424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA423567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC174775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC174776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC174777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC174778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC174779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT001515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU214470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287020   ⟹   ENSP00000287020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,142,333 - 96,160,806 (-)Ensembl
RefSeq Acc Id: ENST00000620978   ⟹   ENSP00000480170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,144,525 - 96,160,719 (-)Ensembl
RefSeq Acc Id: ENST00000621429   ⟹   ENSP00000483711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,144,525 - 96,160,716 (-)Ensembl
RefSeq Acc Id: NM_001001557   ⟹   NP_001001557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,142,333 - 96,160,806 (-)NCBI
GRCh37897,154,558 - 97,173,020 (-)ENTREZGENE
Build 36897,223,734 - 97,242,196 (-)NCBI Archive
HuRef892,360,118 - 92,378,582 (-)ENTREZGENE
CHM1_1897,194,809 - 97,213,265 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001001557   ⟸   NM_001001557
- Peptide Label: preproprotein
- UniProtKB: Q6KF10 (UniProtKB/Swiss-Prot),   A0A0S2A5D6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000480170   ⟸   ENST00000620978
RefSeq Acc Id: ENSP00000483711   ⟸   ENST00000621429
RefSeq Acc Id: ENSP00000287020   ⟸   ENST00000287020
Protein Domains
TGF_BETA_2   TGFb_propeptide

Promoters
RGD ID:7213817
Promoter ID:EPDNEW_H12654
Type:initiation region
Name:GDF6_2
Description:growth differentiation factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12655  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,160,632 - 96,160,692EPDNEW
RGD ID:7213821
Promoter ID:EPDNEW_H12655
Type:initiation region
Name:GDF6_1
Description:growth differentiation factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,160,804 - 96,160,864EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del) microsatellite Klippel-Feil syndrome 1, autosomal dominant [RCV000548440] Chr8:96160592..96160594 [GRCh38]
Chr8:97172820..97172822 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) single nucleotide variant Leber congenital amaurosis 17 [RCV000054524]|Microphthalmia, isolated, with coloboma 6 [RCV000023075] Chr8:96145336 [GRCh38]
Chr8:97157564 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) single nucleotide variant Congenital anomalies of kidney and urinary tract [RCV001255227]|Klippel Feil syndrome [RCV000353571]|Klippel-Feil syndrome 1, autosomal dominant [RCV000008876]|Klippel-Feil syndrome 1, autosomal dominant [RCV001255226]|Leber congenital amaurosis 17 [RCV000054424]|Microphthalmia, isolated 4 [RCV000008877]|not provided [RCV000767010]|not specified [RCV000428033] Chr8:96145185 [GRCh38]
Chr8:97157413 [GRCh37]
Chr8:8q22.1
pathogenic|likely benign|uncertain significance
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000008878]|not provided [RCV000255695] Chr8:96145065 [GRCh38]
Chr8:97157293 [GRCh37]
Chr8:8q22.1
pathogenic|uncertain significance
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) single nucleotide variant Klippel Feil syndrome [RCV000287766]|Klippel-Feil syndrome 1, autosomal dominant [RCV000008879]|Klippel-Feil syndrome 1, autosomal dominant [RCV000984889] Chr8:96144660 [GRCh38]
Chr8:97156888 [GRCh37]
Chr8:8q22.1
pathogenic|likely benign
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000008880] Chr8:96160568 [GRCh38]
Chr8:97172796 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) single nucleotide variant Microphthalmia, isolated 4 [RCV000008881] Chr8:96145173 [GRCh38]
Chr8:97157401 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) single nucleotide variant Microphthalmia, isolated 4 [RCV000008882] Chr8:96144951 [GRCh38]
Chr8:97157179 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) single nucleotide variant Leber congenital amaurosis 17 [RCV000054425] Chr8:96145055 [GRCh38]
Chr8:97157283 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001337031]|Leber congenital amaurosis 17 [RCV000054426] Chr8:96160524 [GRCh38]
Chr8:97172752 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 copy number loss See cases [RCV000054279] Chr8:96065893..97276981 [GRCh38]
Chr8:97078121..98289209 [GRCh37]
Chr8:97147297..98358385 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_001001557.4(GDF6):c.73C>T (p.Gln25Ter) single nucleotide variant not provided [RCV000224148] Chr8:96160620 [GRCh38]
Chr8:97172848 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001001557.4(GDF6):c.407-40C>G single nucleotide variant not specified [RCV000246618] Chr8:96145564 [GRCh38]
Chr8:97157792 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000311743]|Klippel-Feil syndrome 1, autosomal dominant [RCV000535826]|not specified [RCV000251566] Chr8:96144995 [GRCh38]
Chr8:97157223 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000324689]|Klippel-Feil syndrome 1, autosomal dominant [RCV000647352]|not specified [RCV000247047] Chr8:96160438 [GRCh38]
Chr8:97172666 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.406+28C>A single nucleotide variant not specified [RCV000252001] Chr8:96160259 [GRCh38]
Chr8:97172487 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.407-39C>T single nucleotide variant not specified [RCV000243271] Chr8:96145563 [GRCh38]
Chr8:97157791 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.*165C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000321487] Chr8:96144398 [GRCh38]
Chr8:97156626 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*2122C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000302702] Chr8:96142441 [GRCh38]
Chr8:97154669 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000346691] Chr8:96144698 [GRCh38]
Chr8:97156926 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.4(GDF6):c.*271_*272insC insertion Klippel Feil syndrome [RCV000369646] Chr8:96144291..96144292 [GRCh38]
Chr8:97156519..97156520 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*767T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000372296] Chr8:96143796 [GRCh38]
Chr8:97156024 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*1429_*1430del deletion Klippel Feil syndrome [RCV000324936] Chr8:96143133..96143134 [GRCh38]
Chr8:97155361..97155362 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.*1671C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000272103] Chr8:96142892 [GRCh38]
Chr8:97155120 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*144G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000376167] Chr8:96144419 [GRCh38]
Chr8:97156647 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000352502]|Klippel-Feil syndrome 1, autosomal dominant [RCV000953858] Chr8:96145061 [GRCh38]
Chr8:97157289 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_001001557.4(GDF6):c.*1084C>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000275750] Chr8:96143479 [GRCh38]
Chr8:97155707 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001027714]|Klippel-Feil syndrome 1, autosomal dominant [RCV001044903] Chr8:96144627 [GRCh38]
Chr8:97156855 [GRCh37]
Chr8:8q22.1
likely pathogenic|likely benign|uncertain significance
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000404111]|Klippel-Feil syndrome 1, autosomal dominant [RCV000878364] Chr8:96145079 [GRCh38]
Chr8:97157307 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000404155] Chr8:96144974 [GRCh38]
Chr8:97157202 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*998G>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000333225] Chr8:96143565 [GRCh38]
Chr8:97155793 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*2216C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000405054] Chr8:96142347 [GRCh38]
Chr8:97154575 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.*2001A>G single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000359679] Chr8:96142562 [GRCh38]
Chr8:97154790 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*891G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000385433] Chr8:96143672 [GRCh38]
Chr8:97155900 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*842T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000295464] Chr8:96143721 [GRCh38]
Chr8:97155949 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*2195C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000360690] Chr8:96142368 [GRCh38]
Chr8:97154596 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000263471] Chr8:96145189 [GRCh38]
Chr8:97157417 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.4(GDF6):c.*268G>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000316114] Chr8:96144295 [GRCh38]
Chr8:97156523 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000264823]|Klippel-Feil syndrome 1, autosomal dominant [RCV000878422] Chr8:96160337 [GRCh38]
Chr8:97172565 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*172A>G single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000280426] Chr8:96144391 [GRCh38]
Chr8:97156619 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*1090G>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000363253] Chr8:96143473 [GRCh38]
Chr8:97155701 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*2214C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000298939] Chr8:96142349 [GRCh38]
Chr8:97154577 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.4(GDF6):c.*781G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000317694] Chr8:96143782 [GRCh38]
Chr8:97156010 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*28G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000341628] Chr8:96144535 [GRCh38]
Chr8:97156763 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*711G>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000282404] Chr8:96143852 [GRCh38]
Chr8:97156080 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.*380A>G single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000283520] Chr8:96144183 [GRCh38]
Chr8:97156411 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.741G>A (p.Ala247=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000300187] Chr8:96145190 [GRCh38]
Chr8:97157418 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.4(GDF6):c.*577A>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000393130] Chr8:96143986 [GRCh38]
Chr8:97156214 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*2170A>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000393340] Chr8:96142393 [GRCh38]
Chr8:97154621 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001001557.4(GDF6):c.*271_*272insCTC insertion Klippel Feil syndrome [RCV000260930] Chr8:96144291..96144292 [GRCh38]
Chr8:97156519..97156520 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001239678]|not provided [RCV000344156] Chr8:96145206 [GRCh38]
Chr8:97157434 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*276T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000273672] Chr8:96144287 [GRCh38]
Chr8:97156515 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*273_*274CT[20] microsatellite Klippel Feil syndrome [RCV000362793] Chr8:96144245..96144250 [GRCh38]
Chr8:97156473..97156478 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*268_*275delinsCTTT indel Klippel Feil syndrome [RCV000333643] Chr8:96144288..96144295 [GRCh38]
Chr8:97156516..97156523 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*321_*322del deletion Klippel Feil syndrome [RCV000404882] Chr8:96144241..96144242 [GRCh38]
Chr8:97156469..97156470 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*272_*278del deletion Klippel Feil syndrome [RCV000368272] Chr8:96144285..96144291 [GRCh38]
Chr8:97156513..97156519 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*320_*321insCTTT insertion Klippel Feil syndrome [RCV000308068] Chr8:96144242..96144243 [GRCh38]
Chr8:97156470..97156471 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*653C>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000337456] Chr8:96143910 [GRCh38]
Chr8:97156138 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*58G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000286664] Chr8:96144505 [GRCh38]
Chr8:97156733 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*280T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000308954] Chr8:96144283 [GRCh38]
Chr8:97156511 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000298662]|not provided [RCV001200311] Chr8:96145161 [GRCh38]
Chr8:97157389 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.3(GDF6):c.*2243G>C single nucleotide variant Klippel Feil syndrome [RCV000273386] Chr8:96142320 [GRCh38]
Chr8:97154548 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.*249G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000374918] Chr8:96144314 [GRCh38]
Chr8:97156542 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*322_*323insTT insertion Klippel Feil syndrome [RCV000343011] Chr8:96144240..96144241 [GRCh38]
Chr8:97156468..97156469 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000359608] Chr8:96145432 [GRCh38]
Chr8:97157660 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*288T>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000396971] Chr8:96144275 [GRCh38]
Chr8:97156503 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn) single nucleotide variant Multiple synostoses syndrome 4 [RCV000585781] Chr8:96144601 [GRCh38]
Chr8:97156829 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.*868C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001169766] Chr8:96143695 [GRCh38]
Chr8:97155923 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) single nucleotide variant Multiple synostoses syndrome 4 [RCV000585760] Chr8:96144644 [GRCh38]
Chr8:97156872 [GRCh37]
Chr8:8q22.1
pathogenic|uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1 copy number loss not provided [RCV000683017] Chr8:96468763..98522743 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001001557.4(GDF6):c.*1781G>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167303] Chr8:96142782 [GRCh38]
Chr8:97155010 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.407-5C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167440] Chr8:96145529 [GRCh38]
Chr8:97157757 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000878606]|Klippel-Feil syndrome 1, autosomal dominant [RCV001168054] Chr8:96160669 [GRCh38]
Chr8:97172897 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.4(GDF6):c.435A>G (p.Arg145=) single nucleotide variant not provided [RCV000906353] Chr8:96145496 [GRCh38]
Chr8:97157724 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.246G>T (p.Ala82=) single nucleotide variant not provided [RCV000928948] Chr8:96160447 [GRCh38]
Chr8:97172675 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001055413] Chr8:96160470 [GRCh38]
Chr8:97172698 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.27G>A (p.Ser9=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001049407] Chr8:96160666 [GRCh38]
Chr8:97172894 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001058520] Chr8:96145503 [GRCh38]
Chr8:97157731 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) indel Klippel-Feil syndrome 1, autosomal dominant [RCV001038033] Chr8:96144928..96144929 [GRCh38]
Chr8:97157156..97157157 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001036566] Chr8:96145471 [GRCh38]
Chr8:97157699 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 copy number gain Leri pleonosteosis [RCV000856633] Chr8:97154645..98155535 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001001557.4(GDF6):c.924C>A (p.Gly308=) single nucleotide variant not provided [RCV000893103] Chr8:96145007 [GRCh38]
Chr8:97157235 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.406+112T>C single nucleotide variant not provided [RCV000841159] Chr8:96160175 [GRCh38]
Chr8:97172403 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.716A>G (p.Glu239Gly) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167438] Chr8:96145215 [GRCh38]
Chr8:97157443 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*1138G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167900] Chr8:96143425 [GRCh38]
Chr8:97155653 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*271T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167977] Chr8:96144292 [GRCh38]
Chr8:97156520 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*647C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165790] Chr8:96143916 [GRCh38]
Chr8:97156144 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*1083C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167901] Chr8:96143480 [GRCh38]
Chr8:97155708 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*1043A>G single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167903] Chr8:96143520 [GRCh38]
Chr8:97155748 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*405G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167371] Chr8:96144158 [GRCh38]
Chr8:97156386 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.90C>G (p.Ser30=) single nucleotide variant not provided [RCV000978106] Chr8:96160603 [GRCh38]
Chr8:97172831 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_001001557.4(GDF6):c.*1978G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167302] Chr8:96142585 [GRCh38]
Chr8:97154813 [GRCh37]
Chr8:8q22.1
benign
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001226673] Chr8:96145075 [GRCh38]
Chr8:97157303 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001226959] Chr8:96160388 [GRCh38]
Chr8:97172616 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001238513] Chr8:96145173 [GRCh38]
Chr8:97157401 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001236307] Chr8:96160470 [GRCh38]
Chr8:97172698 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*333G>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167372] Chr8:96144230 [GRCh38]
Chr8:97156458 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*2215G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165718] Chr8:96142348 [GRCh38]
Chr8:97154576 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*205T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167978] Chr8:96144358 [GRCh38]
Chr8:97156586 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*546G>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165792] Chr8:96144017 [GRCh38]
Chr8:97156245 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165863] Chr8:96144976 [GRCh38]
Chr8:97157204 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165864] Chr8:96145114 [GRCh38]
Chr8:97157342 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) single nucleotide variant Congenital anomalies of kidney and urinary tract [RCV001255225]|Klippel-Feil syndrome 1, autosomal dominant [RCV000878637]|Klippel-Feil syndrome 1, autosomal dominant [RCV001168053] Chr8:96160581 [GRCh38]
Chr8:97172809 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_001001557.4(GDF6):c.546G>A (p.Gly182=) single nucleotide variant not provided [RCV000879230] Chr8:96145385 [GRCh38]
Chr8:97157613 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.75G>A (p.Gln25=) single nucleotide variant not provided [RCV000980901] Chr8:96160618 [GRCh38]
Chr8:97172846 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.483G>T (p.Leu161=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV000952672] Chr8:96145448 [GRCh38]
Chr8:97157676 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001239642] Chr8:96160611 [GRCh38]
Chr8:97172839 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*725C>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165789] Chr8:96143838 [GRCh38]
Chr8:97156066 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001208908] Chr8:96145146 [GRCh38]
Chr8:97157374 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001037229] Chr8:96160526 [GRCh38]
Chr8:97172754 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*319A>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167373] Chr8:96144244 [GRCh38]
Chr8:97156472 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167437] Chr8:96145188 [GRCh38]
Chr8:97157416 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.701G>A (p.Arg234Gln) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167439] Chr8:96145230 [GRCh38]
Chr8:97157458 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001244088] Chr8:96160331 [GRCh38]
Chr8:97172559 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) microsatellite Klippel-Feil syndrome 1, autosomal dominant [RCV001244140] Chr8:96144926..96144927 [GRCh38]
Chr8:97157154..97157155 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*1441C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167899] Chr8:96143122 [GRCh38]
Chr8:97155350 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.1251C>T (p.Pro417=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168760] Chr8:96144680 [GRCh38]
Chr8:97156908 [GRCh37]
Chr8:8q22.1
likely benign
NM_001001557.4(GDF6):c.*908G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001169765] Chr8:96143655 [GRCh38]
Chr8:97155883 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001070415] Chr8:96160371 [GRCh38]
Chr8:97172599 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*734T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001169767] Chr8:96143829 [GRCh38]
Chr8:97156057 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168052]|Klippel-Feil syndrome 1, autosomal dominant [RCV001228299] Chr8:96160443 [GRCh38]
Chr8:97172671 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001001557.4(GDF6):c.18C>T (p.Val6=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168055] Chr8:96160675 [GRCh38]
Chr8:97172903 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*1055G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167902] Chr8:96143508 [GRCh38]
Chr8:97155736 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001208636] Chr8:96145061 [GRCh38]
Chr8:97157289 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*106A>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168757] Chr8:96144457 [GRCh38]
Chr8:97156685 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*27G>A single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168758] Chr8:96144536 [GRCh38]
Chr8:97156764 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.1348G>A (p.Glu450Lys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168759] Chr8:96144583 [GRCh38]
Chr8:97156811 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001232658] Chr8:96145053 [GRCh38]
Chr8:97157281 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*529C>G single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165793] Chr8:96144034 [GRCh38]
Chr8:97156262 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001038235] Chr8:96145116 [GRCh38]
Chr8:97157344 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001232106] Chr8:96160440 [GRCh38]
Chr8:97172668 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*274T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167975] Chr8:96144289 [GRCh38]
Chr8:97156517 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*273C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167976] Chr8:96144290 [GRCh38]
Chr8:97156518 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.-86C>T single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001168056] Chr8:96160778 [GRCh38]
Chr8:97173006 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3 copy number gain not provided [RCV001006122] Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001001557.4(GDF6):c.*620A>G single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001165791] Chr8:96143943 [GRCh38]
Chr8:97156171 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.*2189T>C single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001167301] Chr8:96142374 [GRCh38]
Chr8:97154602 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001039307] Chr8:96145308 [GRCh38]
Chr8:97157536 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 copy number gain not provided [RCV001259019] Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001326826] Chr8:96144702 [GRCh38]
Chr8:97156930 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001305806] Chr8:96160421 [GRCh38]
Chr8:97172649 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001298478] Chr8:96145035 [GRCh38]
Chr8:97157263 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001340264] Chr8:96145048 [GRCh38]
Chr8:97157276 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001314222] Chr8:96160370 [GRCh38]
Chr8:97172598 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001305381] Chr8:96160316 [GRCh38]
Chr8:97172544 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001298161] Chr8:96144621 [GRCh38]
Chr8:97156849 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001327602] Chr8:96145203 [GRCh38]
Chr8:97157431 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001304780] Chr8:96145320 [GRCh38]
Chr8:97157548 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.954C>T (p.Gly318=) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001324004] Chr8:96144977 [GRCh38]
Chr8:97157205 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001298384] Chr8:96145395 [GRCh38]
Chr8:97157623 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001307223] Chr8:96160412 [GRCh38]
Chr8:97172640 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001347939] Chr8:96144609 [GRCh38]
Chr8:97156837 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001323731] Chr8:96145029 [GRCh38]
Chr8:97157257 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) single nucleotide variant Klippel-Feil syndrome 1, autosomal dominant [RCV001337738] Chr8:96145300 [GRCh38]
Chr8:97157528 [GRCh37]
Chr8:8q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4221 AgrOrtholog
COSMIC GDF6 COSMIC
Ensembl Genes ENSG00000156466 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480170 UniProtKB/TrEMBL
  ENSP00000483711 UniProtKB/TrEMBL
Ensembl Transcript ENST00000287020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620978 UniProtKB/TrEMBL
  ENST00000621429 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156466 GTEx
HGNC ID HGNC:4221 ENTREZGENE
Human Proteome Map GDF6 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:392255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 392255 ENTREZGENE
OMIM 118100 OMIM
  601147 OMIM
  613094 OMIM
  613703 OMIM
  615360 OMIM
  617898 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28636 PharmGKB
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0X2_HUMAN UniProtKB/TrEMBL
  A0A0S2A5D6 ENTREZGENE, UniProtKB/TrEMBL
  A0A140F382_HUMAN UniProtKB/TrEMBL
  A0A140F384_HUMAN UniProtKB/TrEMBL
  A0PK22_HUMAN UniProtKB/TrEMBL
  A0PK23_HUMAN UniProtKB/TrEMBL
  GDF6_HUMAN UniProtKB/Swiss-Prot
  M1L0V3_HUMAN UniProtKB/TrEMBL
  M1L5L6_HUMAN UniProtKB/TrEMBL
  Q6KF10 ENTREZGENE
UniProt Secondary Q6PI58 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 GDF6  growth differentiation factor 6  KFM  Klippel-Feil malformation  Data Merged 737654 PROVISIONAL
2016-03-09 GDF6  growth differentiation factor 6  SGM1  segmentation syndrome 1  Data Merged 737654 PROVISIONAL
2011-08-17 GDF6  growth differentiation factor 6  GDF6  growth differentiation factor 6  Symbol and/or name change 5135510 APPROVED