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Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN2
(R62H)
Single nucleotide variant
(missense variant)
Alzheimer disease
+4 more
GBenign/Likely benign
PSEN2
(T122P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
PSEN2
(S130L)
Single nucleotide variant
(missense variant)
PSEN2-related disorder
+4 more
GBenign/Likely benign
PSEN2
(N141I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PSEN2
(V148I)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(Q228L)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(P334R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
+2 more
GUncertain significance
PSEN2
(T430M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(D439A +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+2 more
GUncertain significance
CHMP2B
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign
CHMP2B
(I29V)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+2 more
GBenign
CHMP2B
(N143S +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(D148Y +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(Q165* +1 more)
Single nucleotide variant
(nonsense)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GPathogenic
CHMP2B
(R186* +1 more)
Single nucleotide variant
(nonsense)
CHMP2B-related disorder
GLikely benign
CHMP2B
(Q206H +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GPathogenic
PSEN1
(R35Q +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+6 more
GConflicting classifications of pathogenicity
PSEN1
(A79V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic
PSEN1
(V89L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+1 more
Gnot provided
PSEN1
(V94M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(L113P +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GLikely pathogenic
PSEN1
Deletion
(splice donor variant)
not provided
GPathogenic
PSEN1
(Y115C +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic/Likely pathogenic
PSEN1
(T116I +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(P117S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(E120K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(N135D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GLikely pathogenic
PSEN1
(N135S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic/Likely pathogenic
PSEN1
(M139V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic
PSEN1
(I143T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(M146I +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(H163R +1 more)
Single nucleotide variant
(missense variant)
PSEN1-related disorder
+6 more
GPathogenic
PSEN1
(S169P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(S169L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(L171P +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(F177S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(S178P +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(E184D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(G206V +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PSEN1
(G209V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(A231T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+5 more
GLikely pathogenic
PSEN1
(L235V +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PSEN1
(F237L +1 more)
Single nucleotide variant
(missense variant)
Visual hallucination
+2 more
GLikely pathogenic
PSEN1
(A246E +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PSEN1
(A260V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(L262F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(P264L +1 more)
Single nucleotide variant
(missense variant)
Mental deterioration
+6 more
GPathogenic/Likely pathogenic
PSEN1
(P267S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(P267L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GLikely pathogenic
PSEN1
(R269H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PSEN1
(T274R +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(R278I +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(E280G +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic
PSEN1
(L286V +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PSEN1
(E318G +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+7 more
GBenign/Likely benign
PSEN1
(L381V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(L392V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(L392P +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(G394V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(A409T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GConflicting classifications of pathogenicity
PSEN1
(C410Y +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(A426P +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GLikely pathogenic
PSEN1
(A431V +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
PSEN1
(A434C +1 more)
Indel
(missense variant)
not provided
GPathogenic
PSEN1
(P436S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GRN
Single nucleotide variant
(intron variant)
not provided
Gnot provided
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GPathogenic
GRN
(M1T)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 11
+1 more
GPathogenic
GRN
(M1I)
Single nucleotide variant
(missense variant +1 more)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GPathogenic
GRN
(A9D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GRN
(R19W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign
GRN
(D22fs)
Insertion
(frameshift variant)
not provided
Gnot provided
GRN
(G35fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GPathogenic
GRN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
GRN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRN
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GPathogenic
GRN
(L53P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GRN
(G79fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GPathogenic
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(C105R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GRN
(S106N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GRN
(R110*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 more
GPathogenic
GRN
(S120Y)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+3 more
GBenign/Likely benign
GRN
(Q125*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(P127fs)
Deletion
(frameshift variant)
not provided
Gnot provided
GRN
(Q130fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GRN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
GRN
(Q130fs)
Deletion
(frameshift variant)
Frontotemporal dementia
+4 more
GPathogenic
GRN
(V141I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GRN
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
GRN
(C157fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(C158Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRN
(T182M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GRN
(R212Q)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GUncertain significance
GRN
(T220S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GRN
(S226fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
GRN, LOC125177489
(P233Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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