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Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPK, HNRNPK-AS1
(S164C +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
Deletion
(inframe_deletion)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(R308H +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK, HNRNPK-AS1
(R147* +1 more)
Single nucleotide variant
(nonsense)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Single nucleotide variant
(intron variant)
Au-Kline syndrome
+1 more
GConflicting classifications of pathogenicity
HNRNPK, HNRNPK-AS1
(G213S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Au-Kline syndrome
GUncertain significance
HNRNPK
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GUncertain significance
HNRNPK, HNRNPK-AS1
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(R272* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
HNRNPK, HNRNPK-AS1
Deletion
(splice acceptor variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
(L131fs +1 more)
Microsatellite
(frameshift variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
(H128L +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK, HNRNPK-AS1
(V168G +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Duplication
(splice donor variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK-AS1, HNRNPK
(L123* +1 more)
Single nucleotide variant
(nonsense)
Au-Kline syndrome
GPathogenic
HNRNPK
Deletion
(intron variant)
Au-Kline syndrome
GPathogenic
HNRNPK
(G376R +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
+1 more
GUncertain significance
HNRNPK
(D326fs +1 more)
Deletion
(frameshift variant)
Au-Kline syndrome
GPathogenic
HNRNPK, HNRNPK-AS1
Single nucleotide variant
(splice donor variant +1 more)
Au-Kline syndrome
GPathogenic
HNRNPK
(S323fs +1 more)
Microsatellite
(frameshift variant)
Au-Kline syndrome
GPathogenic
HNRNPK, HNRNPK-AS1
Deletion
(inframe_deletion)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(R390C +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GPathogenic
HNRNPK
(D346G +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(L68P)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
ATP7A
(C391S)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
+3 more
GUncertain significance
HNRNPK
(R385W +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(P371S +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(N429K +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK, HNRNPK-AS1
(Q122*)
Single nucleotide variant
(nonsense +1 more)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(G236D +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(E404K +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
(R167fs +1 more)
Microsatellite
(frameshift variant)
Au-Kline syndrome
GPathogenic
HNRNPK
Deletion
(splice acceptor variant)
Au-Kline syndrome
GPathogenic
HNRNPK, HNRNPK-AS1
(Y201H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HNRNPK, HNRNPK-AS1
(H163R +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GUncertain significance
HNRNPK
(L68R)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
(G351W +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Indel
(missense variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
(L155P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HNRNPK, HNRNPK-AS1
Single nucleotide variant
(splice acceptor variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK, HNRNPK-AS1
Single nucleotide variant
(intron variant)
Au-Kline syndrome
GLikely pathogenic
HNRNPK
Deletion
Au-Kline syndrome
GPathogenic
HNRNPK
(R287* +1 more)
Single nucleotide variant
(nonsense)
Au-Kline syndrome
+1 more
GPathogenic
HNRNPK
Deletion
Au-Kline syndrome
GPathogenic
HNRNPK
(Y309* +1 more)
Duplication
(nonsense)
Au-Kline syndrome
GPathogenic
HNRNPK, HNRNPK-AS1
(E85K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HNRNPK
Single nucleotide variant
(splice donor variant)
Au-Kline syndrome
+1 more
GPathogenic
HNRNPK
Duplication
(frameshift variant)
Au-Kline syndrome
+1 more
GPathogenic
HNRNPK
(P287fs +1 more)
Insertion
(frameshift variant)
Au-Kline syndrome
GPathogenic
HNRNPK, HNRNPK-AS1
(R86H)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GPathogenic/Likely pathogenic
HNRNPK
Duplication
(splice donor variant)
Au-Kline syndrome
GPathogenic
LOC107303340, VHL
(L188V +1 more)
Single nucleotide variant
(missense variant +1 more)
Au-Kline syndrome
+4 more
GPathogenic/Likely pathogenic
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