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Items: 1 to 100 of 260

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
HNRNPK
(F438L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HNRNPK
(Q433R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HNRNPK
Duplication
(intron variant)
not provided
GLikely benign
HNRNPK
Microsatellite
(intron variant)
not provided
GLikely benign
HNRNPK
Duplication
(intron variant)
not provided
GBenign
HNRNPK
Deletion
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPK
Duplication
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNRNPK
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
GPathogenic
HNRNPK
(N429K +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
(D408fs +1 more)
Deletion
(frameshift variant)
Intellectual disability
GPathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
(E404K +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(E401* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
(S417* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HNRNPK
(R390fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
HNRNPK
(R390C +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
(R385W +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HNRNPK
(G376R +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
+1 more
GUncertain significance
HNRNPK
Deletion
(splice acceptor variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Deletion
(intron variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Deletion
(intron variant)
not provided
GBenign
HNRNPK
Deletion
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(P371S +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(Q367R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPK
(G385R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HNRNPK
(G352S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPK
(G351W +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(Y349C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPK
(D346G +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Single nucleotide variant
(splice acceptor variant)
HNRNPK-related disorder
GLikely pathogenic
HNRNPK
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
HNRNPK
(G366A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPK
Deletion
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(splice acceptor variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Duplication
(intron variant)
not provided
GBenign
HNRNPK
Deletion
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HNRNPK
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GLikely pathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HNRNPK
(W328fs +1 more)
Duplication
(frameshift variant)
HNRNPK-related disorder
GPathogenic
HNRNPK
(D326fs +1 more)
Deletion
(frameshift variant)
Au-Kline syndrome
GPathogenic
HNRNPK
(A324T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNRNPK
(S323fs +1 more)
Microsatellite
(frameshift variant)
Au-Kline syndrome
GPathogenic
HNRNPK
(A341T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
HNRNPK
Deletion
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
HNRNPK
Duplication
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
+1 more
GPathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
(D310N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HNRNPK
(Y309* +1 more)
Duplication
(nonsense)
Au-Kline syndrome
GPathogenic
HNRNPK
(R308H +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(G306E +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HNRNPK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Duplication
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPK
Duplication
(splice donor variant)
not provided
GPathogenic
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