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Links from MedGen

Items: 1 to 100 of 553

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSTPIP1
(Q147* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GUncertain significance
PSTPIP1
Duplication
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Deletion
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
ARID3B, C15orf39
+47 more
Deletion
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(E368K +4 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(E333A +4 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GUncertain significance
PSTPIP1
(S132W +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(P310fs +3 more)
Duplication
(frameshift variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(P281L +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(H225Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(V282F)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(K108N +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(Y353* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(P474S +4 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Deletion
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(E414G +4 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(L16P +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Duplication
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(A261E +2 more)
Single nucleotide variant
(missense variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(F11S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(T11P +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(W12S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(K136del +2 more)
Microsatellite
(inframe_deletion +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(D218N +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(splice acceptor variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(D266A +2 more)
Single nucleotide variant
(missense variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(D286E)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(Q345* +4 more)
Single nucleotide variant
(nonsense +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(Q73R +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(S153C +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Indel
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(I161L +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(L410V +4 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(A254T +2 more)
Single nucleotide variant
(missense variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Duplication
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(S63T +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(E397V +4 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(E210K +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(V201A +2 more)
Single nucleotide variant
(missense variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(G23S +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(splice acceptor variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
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