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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APP
Single nucleotide variant
Early-onset autosomal dominant Alzheimer disease
GLikely benign
PSEN1
Single nucleotide variant
(genic upstream transcript variant)
Early-onset autosomal dominant Alzheimer disease
+5 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(genic downstream transcript variant)
Dilated Cardiomyopathy, Dominant
+1 more
GLikely benign
APP
Single nucleotide variant
(intron variant)
Early-onset autosomal dominant Alzheimer disease
+1 more
GConflicting classifications of pathogenicity
APP
Single nucleotide variant
(intron variant)
Early-onset autosomal dominant Alzheimer disease
+1 more
GUncertain significance
APP
Single nucleotide variant
(intron variant)
Early-onset autosomal dominant Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(genic upstream transcript variant +1 more)
Early-onset autosomal dominant Alzheimer disease
+2 more
GUncertain significance
APP
Single nucleotide variant
(intron variant)
Early-onset autosomal dominant Alzheimer disease
GLikely benign
APP
Microsatellite
(inframe_insertion)
not specified
+3 more
GConflicting classifications of pathogenicity
PSEN1
Microsatellite
(3 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+1 more
GUncertain significance
PSEN1
Microsatellite
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSEN1
Microsatellite
(3 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+1 more
GUncertain significance
PSEN1
Single nucleotide variant
(3 prime UTR variant)
Early-onset autosomal dominant Alzheimer disease
+1 more
GUncertain significance
PSEN1
Single nucleotide variant
(genic upstream transcript variant)
Early-onset autosomal dominant Alzheimer disease
+1 more
GUncertain significance
PSEN1
Single nucleotide variant
(genic upstream transcript variant)
Early-onset autosomal dominant Alzheimer disease
+1 more
GUncertain significance
PSEN1
Single nucleotide variant
(genic upstream transcript variant)
Early-onset autosomal dominant Alzheimer disease
+1 more
GUncertain significance
LOC129932678, PSEN2
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+1 more
GLikely benign
PSEN1
(A285V +1 more)
Single nucleotide variant
(missense variant)
Early-onset autosomal dominant Alzheimer disease
GPathogenic
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