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Links from MedGen

Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POGZ
(Q1033del +5 more)
Microsatellite
(inframe_deletion)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(D1093E +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(S815fs +5 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(T827fs +5 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(K311fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(Q573fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(S626* +5 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(L1148V +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(F888fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(Q830fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(T464fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(E1024fs +5 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(E26fs +1 more)
Indel
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Insertion
(inframe_insertion)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(M1130I +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(G106fs +3 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(T88R +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(Y378H +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(L1022fs +5 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(L1312M +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely benign
POGZ
Single nucleotide variant
(splice donor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(L481fs +5 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(Y441fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
Single nucleotide variant
(splice donor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(S815* +5 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(E1007fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
Single nucleotide variant
(intron variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(D425N +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(R1004H +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(P752Q +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(V1208G +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(R1030C +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(E1253L +5 more)
Indel
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(L1008F +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+1 more
GConflicting classifications of pathogenicity
POGZ
(R655Q +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(M1085I +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(N361K +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(I1241T +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(M120V +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+1 more
GConflicting classifications of pathogenicity
POGZ
(A56T +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(Q1033* +5 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(E1040Q +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(F783fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(K1226fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(E1392V +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
POGZ
(A658T +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+1 more
GConflicting classifications of pathogenicity
POGZ
(N1247K +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POGZ
(T82R +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(P1155R +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(L845fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(E1294Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POGZ
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
POGZ
(K580* +4 more)
Duplication
(nonsense +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(S257fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(E260V +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
Deletion
(frameshift variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(D3fs)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(E1031K +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
POGZ
(R762G +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(L806fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(E31K)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(M1026fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(I55V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
Deletion
(splice donor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
(T40A)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(R284* +4 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
Single nucleotide variant
(splice acceptor variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
(V638I +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(Q1188R +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(E664K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
POGZ
(L1027P +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(W1025G +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
Single nucleotide variant
(splice donor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(M1V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
Deletion
(intron variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GBenign
POGZ
(R682fs +4 more)
Insertion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
Single nucleotide variant
(splice donor variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
POGZ
(I1217fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Gnot provided
POGZ
(P1023fs +4 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
POGZ
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
POGZ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
POGZ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
POGZ
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
POGZ
Single nucleotide variant
(intron variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+1 more
GBenign
POGZ
Single nucleotide variant
(intron variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+1 more
GBenign
POGZ
(S22fs)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic
POGZ
Single nucleotide variant
(intron variant)
not provided
GPathogenic
POGZ
Single nucleotide variant
(intron variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+2 more
GBenign/Likely benign
POGZ
(Q1032* +4 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Single nucleotide variant
(intron variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(Q1005* +4 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GPathogenic
POGZ
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
POGZ
(S429Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POGZ
(Q210E +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
POGZ
(R1047Q +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GUncertain significance
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