Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
|
26954065 |
2016 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
|
26954065 |
2016 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
|
26954065 |
2016 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
|
26173930 |
2015 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
|
26173930 |
2015 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
|
26173930 |
2015 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Pfam: the protein families database.
|
24288371 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.
|
24990929 |
2014 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Activities at the Universal Protein Resource (UniProt).
|
24253303 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
|
24501764 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Pfam: the protein families database.
|
24288371 |
2014 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Pfam: the protein families database.
|
24288371 |
2014 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.
|
24990929 |
2014 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
|
24501764 |
2014 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.
|
24990929 |
2014 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Activities at the Universal Protein Resource (UniProt).
|
24253303 |
2014 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
|
24501764 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Activities at the Universal Protein Resource (UniProt).
|
24253303 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
|
23455423 |
2013 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
|
23455423 |
2013 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
|
23455423 |
2013 |
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
|
21800092 |
2012 |