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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA7
(R1453H)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(P455L)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(E1850K)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7, LOC130062871
(A2075E)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(I992V)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(E1728fs)
Duplication
(frameshift variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(G1133R)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
Single nucleotide variant
(splice acceptor variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(P2129fs)
Duplication
(frameshift variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(R1976S)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(R880W)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
+1 more
GUncertain significance
SORL1
(A478P)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
Grisk factor
ABCA7
(P1261fs)
Deletion
(frameshift variant)
Alzheimer disease 9
Grisk factor
ABCA7
(W592C)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
Grisk factor
ABCA7
(D2085N)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(K1521Q)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
GUncertain significance
ABCA7
(M354T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ABCA7
(S1629L)
Single nucleotide variant
(missense variant)
Alzheimer disease 9
+1 more
GBenign/Likely benign
ABCA7
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
ABCA7
(W1214*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
ABCA7
(E709fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity; risk factor
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