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Links from Gene

Items: 1 to 100 of 345

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPA2B1
(G272R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
HNRNPA2B1
Single nucleotide variant
(3 prime UTR variant)
HNRNPA2B1-related condition
GLikely benign
HNRNPA2B1
Deletion
(intron variant)
HNRNPA2B1-related condition
GLikely benign
HNRNPA2B1
Microsatellite
(3 prime UTR variant)
HNRNPA2B1-related condition
GLikely benign
CBX3, HNRNPA2B1
+24 more
Copy number gain
Autism spectrum disorder
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(N255S +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Deletion
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(S213N +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(R213H +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Deletion
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GBenign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(G273S +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(R313K +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Deletion
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Deletion
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GBenign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(I143L +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant +1 more)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(S219A +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(G192R +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(M304V +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1, NFE2L3
(S473T)
Single nucleotide variant
(missense variant)
not provided
GBenign
HNRNPA2B1
(Y324C +1 more)
Single nucleotide variant
(missense variant)
HNRNPA2B1-related condition
+1 more
GUncertain significance
HNRNPA2B1
(G311D +1 more)
Single nucleotide variant
(missense variant)
HNRNPA2B1-related condition
GUncertain significance
HNRNPA2B1
(N277S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPA2B1
(Q43L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HNRNPA2B1
(G333fs +1 more)
Duplication
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
(N323fs +1 more)
Deletion
Oculopharyngeal muscular dystrophy 2
GPathogenic
HNRNPA2B1
(G328fs +1 more)
Deletion
(frameshift variant)
Oculopharyngeal muscular dystrophy 2
GPathogenic
HNRNPA2B1
(G331fs +1 more)
Deletion
(frameshift variant)
Oculopharyngeal muscular dystrophy 2
GPathogenic
HNRNPA2B1
(G334fs +1 more)
Deletion
(frameshift variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Duplication
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Duplication
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Deletion
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Deletion
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Deletion
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Insertion
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(Y278C +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(N301S +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(P298S +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
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