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Items: 1 to 100 of 201

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO1
(K2520E)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(T2517S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(I2514L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(P2510L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(K2502R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(A2501T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
Microsatellite
(inframe_insertion)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GPathogenic
PIEZO1
(R2491W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(R2002Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PIEZO1
(R2476C)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(V1988M +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(F2458L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R2456H)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+1 more
GPathogenic
PIEZO1
(G2452S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(I2451V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PIEZO1
Microsatellite
(splice donor variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R1926W +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(G2399S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(G2394S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(E2392K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PIEZO1
(V2385M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R1850Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(A2334T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(N2331S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(G2315R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(Q2308E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(R2302H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(T2296M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(R2279H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R1793C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(A1790V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIEZO1
(G1789R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(V2266I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PIEZO1
(M2225R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PIEZO1
(V1726I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
(L2192I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
PIEZO1
(K2169del)
Microsatellite
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(K2158R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(I1663N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(T2127M)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+1 more
GLikely pathogenic
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(L2103V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(V2069M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(V2052I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PIEZO1
(W1558* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PIEZO1
(A2020T)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(A1988V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R1469C +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(K1953T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(R1943Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PIEZO1
(F1930L)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GConflicting classifications of pathogenicity
PIEZO1
(R1925W)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(A1923V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(E1910K)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(T1421M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
(E1898D)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R1408K +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(A1886T)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(R1868C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(E1342K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
(L1805F)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
PIEZO1
(S1312F +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(P1771L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIEZO1
(E1764A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(E1764K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(Y1763*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PIEZO1
(V1257del +1 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(T1732M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIEZO1
(V1712L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(T1702M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIEZO1
(G1670R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(L1664P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(R1167C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PIEZO1
(G1154R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(A1635G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(G1629R)
Single nucleotide variant
(missense variant)
Polyhydramnios
+3 more
GUncertain significance
PIEZO1
(E1574K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PIEZO1
(M1539fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
PIEZO1
(H1536Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(Q1033P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
(R1500Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
Duplication
(splice donor variant)
not provided
GUncertain significance
PIEZO1
(E1495D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(G1482C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(E1472K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PIEZO1
(R1461Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIEZO1
(A1455T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(S1439P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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