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Links from MedGen

Items: 1 to 100 of 1240

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP2
(P22L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(A57G)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G61S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(Q75*)
Single nucleotide variant
(nonsense)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
Microsatellite
(nonsense)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
Duplication
(splice donor variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(S104L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(C108Y)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G118V)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(D135E)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(D153E)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(N178D)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(H185Y)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(S189P)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(C195Y)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P230S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(K248E)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(W271R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R278G)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(L290S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(M309R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(C321S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(H322R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G392C)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(I416M)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(splice donor variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(I453S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(I458S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(V477L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T506S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P512L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G534W)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G557R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(H596L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(Q672L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(S715F)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(V732I)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(V744L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(E784A)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(A790T)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R829Q)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P848H)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R853fs)
Deletion
(frameshift variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(W855G)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R883Q)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T914I)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R938P)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(I954L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T969S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(splice acceptor variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(F989L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P990L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G1015E)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T1023I)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(Q1025E)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(Q1058fs)
Duplication
(frameshift variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(R1085C)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T1103fs)
Indel
(frameshift variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(N1132S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(splice acceptor variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(N1155S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R1160P)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(C1161F)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(F1166C)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G1182D)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(Q1191*)
Single nucleotide variant
(nonsense)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(S1217W)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G1281R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P1309T)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P1309L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R1311C)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(N1340H)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(D1355H)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G1358D)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(A1371P)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(N1383S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(I1396T)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R1426G)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(D1449N)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(S1450I)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(D1474N)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(I1514V)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(I1516M)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T1552S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(W1599*)
Single nucleotide variant
(nonsense)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(H1644N)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(H1644R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R1660C)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(A1668T)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(N1669S)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(S1677*)
Single nucleotide variant
(nonsense)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(I1683V)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
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