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Items: 1 to 100 of 317

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPA2B1
Single nucleotide variant
(3 prime UTR variant)
HNRNPA2B1-related disorder
GLikely benign
HNRNPA2B1
Microsatellite
(3 prime UTR variant)
HNRNPA2B1-related disorder
GLikely benign
HNRNPA2B1
Deletion
(3 prime UTR variant)
HNRNPA2B1-related disorder
GLikely benign
HNRNPA2B1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
HNRNPA2B1
(G334fs +1 more)
Deletion
(frameshift 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
(G331fs +1 more)
Deletion
(frameshift variant)
Oculopharyngeal muscular dystrophy 2
GPathogenic
HNRNPA2B1
Deletion
(inframe_deletion)
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
(G327fs +1 more)
Deletion
(frameshift variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
+1 more
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
(G328fs +1 more)
Deletion
(frameshift variant)
Oculopharyngeal muscular dystrophy 2
GPathogenic
HNRNPA2B1
(Y324C +1 more)
Single nucleotide variant
(missense variant)
HNRNPA2B1-related disorder
+1 more
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
(G322E +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GLikely pathogenic
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)
not provided
GBenign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPA2B1
Deletion
(intron variant)
not provided
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
GBenign
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
(intron variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
(G317del +1 more)
Deletion
(inframe_deletion)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
(M315V +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
+1 more
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
(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
(G311del +1 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
HNRNPA2B1
(G311D +1 more)
Single nucleotide variant
(missense variant)
HNRNPA2B1-related disorder
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
(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
GBenign
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(Y301F +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
(P310L +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely pathogenic
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
(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
(D290V +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GPathogenic
HNRNPA2B1
(N301S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
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
(S285G +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
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
Duplication
(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
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
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
+1 more
GBenign
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
(N277S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
(G272R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
Duplication
(inframe_insertion)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
(N278S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HNRNPA2B1
(G272A +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
(G268del +1 more)
Microsatellite
(inframe_deletion)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HNRNPA2B1
(G261S +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
+1 more
GUncertain significance
HNRNPA2B1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
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
(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
(G242C +1 more)
Single nucleotide variant
(missense variant)
not provided
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
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)
not provided
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPA2B1
Single nucleotide variant
(intron variant)
not provided
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
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
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
(P239S +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
(G246R +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
(synonymous variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GLikely benign
HNRNPA2B1
(R226C +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
GUncertain significance
HNRNPA2B1
(G223C +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
GUncertain significance
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