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Links from MedGen

Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO2
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(D1891N +2 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
(G128R)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
Single nucleotide variant
(splice donor variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(S2424fs +2 more)
Duplication
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
Single nucleotide variant
(splice donor variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
LOC126862696, PIEZO2
(W936* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
(F589fs)
Deletion
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(L2257fs +2 more)
Duplication
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(W2365* +2 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(E2283* +2 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(W526*)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(K1567fs +1 more)
Deletion
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GPathogenic/Likely pathogenic
PIEZO2
(W2365* +2 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
Single nucleotide variant
(splice donor variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(E668fs)
Deletion
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
Single nucleotide variant
(splice donor variant)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(C691*)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(S517fs)
Insertion
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(A24V)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+2 more
GUncertain significance
PIEZO2
(S544F)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GUncertain significance
PIEZO2
(E4*)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(P92fs)
Deletion
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
MIR6788, PIEZO2
Deletion
(splice donor variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GPathogenic/Likely pathogenic
PIEZO2
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
Deletion
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
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
(S240F)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GConflicting classifications of pathogenicity
PIEZO2
(I2277V +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
(G915R +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
Duplication
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GUncertain significance
PIEZO2
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
(Y515N)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
(R1575Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIEZO2
(E642*)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(R1138* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(R1906* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(T1390fs +1 more)
Microsatellite
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GLikely pathogenic
PIEZO2
(Y304C)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+2 more
GConflicting classifications of pathogenicity
PIEZO2
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GPathogenic
PIEZO2
(R462*)
Single nucleotide variant
(nonsense)
Fetal akinesia deformation sequence 1
+1 more
GPathogenic
PIEZO2
(T1358M +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+2 more
GUncertain significance
PIEZO2
(R1962C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PIEZO2
(T51M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PIEZO2
(R2382W +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GUncertain significance
PIEZO2
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GLikely pathogenic
PIEZO2
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GPathogenic
STK11
(T185I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PIEZO2
(A2544T +1 more)
Single nucleotide variant
(missense variant)
PIEZO2-related disorder
+3 more
GConflicting classifications of pathogenicity
PIEZO2
(E623K)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GConflicting classifications of pathogenicity
PIEZO2
(W1965* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PIEZO2
(E2046Q +1 more)
Single nucleotide variant
(missense variant)
PIEZO2-related disorder
+6 more
GConflicting classifications of pathogenicity
PIEZO2
(P1007fs +1 more)
Deletion
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(S517fs)
Indel
(frameshift variant)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(L1874fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PIEZO2
(V1219M +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+1 more
GConflicting classifications of pathogenicity
PIEZO2
(S903* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(R1685P +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
GPathogenic
PIEZO2
(R1575* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PIEZO2
(R1685* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
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
(A2050D +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+2 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
(S1289F +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, with impaired proprioception and touch
+4 more
GBenign/Likely benign
PIEZO2
(R2686H +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
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