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Links from MedGen

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO2
(A1163S +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GUncertain significance
PIEZO2
Single nucleotide variant
(splice donor variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GLikely pathogenic
PIEZO2
(L787R)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GUncertain significance
PIEZO2
(F2346C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PIEZO2
(A24V)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+2 more
GUncertain significance
PIEZO2
(I791K)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(S883fs +1 more)
Deletion
(frameshift variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(D1636fs +1 more)
Duplication
(frameshift variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign
PIEZO2
Deletion
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign
PIEZO2
Deletion
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+5 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
Gordon syndrome
+4 more
GBenign
PIEZO2
Deletion
(intron variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+4 more
GBenign/Likely benign
PIEZO2
Single nucleotide variant
(intron variant)
Gordon syndrome
+4 more
GBenign
PIEZO2
Deletion
(intron variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+4 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
Gordon syndrome
+4 more
GBenign/Likely benign
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign
PIEZO2
(S2739L +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GLikely pathogenic
PIEZO2
(R2686G +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+1 more
GPathogenic/Likely pathogenic
PIEZO2
(E2046Q +1 more)
Single nucleotide variant
(missense variant)
PIEZO2-related disorder
+6 more
GConflicting classifications of pathogenicity
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, with impaired proprioception and touch
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
PIEZO2
(E1898Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
PIEZO2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
PIEZO2
(V1354I +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+5 more
GBenign
PIEZO2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
PIEZO2
(M998T +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(T2221I +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(S2223L +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(T2356M +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(E2727del +1 more)
Microsatellite
(inframe_deletion)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
+2 more
GPathogenic
PIEZO2
(Y2737fs +1 more)
Deletion
(frameshift variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(S1289F +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign/Likely benign
PIEZO2
(S2739P +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(M712V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
PIEZO2
(R2718P +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(R2718L +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
PIEZO2
(R2686H +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
PIEZO2
(I802F)
Single nucleotide variant
(missense variant)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
GPathogenic
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