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Links from MedGen

Items: 1 to 100 of 774

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(P1368R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(T554K)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(W3956fs)
Deletion
(frameshift variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(M1615R)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(G1170D)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(V4253L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
LRP2
(E380D)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+1 more
GUncertain significance
LRP2
(G669fs)
Deletion
(frameshift variant)
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
(D1087N)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GConflicting classifications of pathogenicity
LRP2
(S2714L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+2 more
GUncertain significance
LRP2
(C1394Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRP2
(P3077L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(V1203A)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
(R570H)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+1 more
GUncertain significance
LRP2
(I755V)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
GUncertain significance
LRP2
Deletion
Donnai-Barrow syndrome
GLikely pathogenic
LRP2
Deletion
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
LRP2-related disorder
+2 more
GLikely benign
LRP2
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LRP2
(I2836M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
(S4627L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LRP2
Microsatellite
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Deletion
(intron variant)
Donnai-Barrow syndrome
+1 more
GBenign/Likely benign
LRP2
(I396V)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+2 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Microsatellite
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GBenign/Likely benign
LRP2
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
LRP2
(V1896I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+2 more
GBenign/Likely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Deletion
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GBenign/Likely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LRP2
Single nucleotide variant
(synonymous variant)
Donnai-Barrow syndrome
+1 more
GLikely benign
LRP2
(C2748*)
Single nucleotide variant
(nonsense)
Donnai-Barrow syndrome
GPathogenic
LRP2
(S2708F)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+1 more
GUncertain significance
LRP2
(R2262L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+1 more
GUncertain significance
LRP2
(P977H)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+1 more
GUncertain significance
LRP2
(H2355R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRP2
(A4413V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRP2
(R819C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LRP2
(A1265V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRP2
(D3864N)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+1 more
GUncertain significance
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