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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCTN1
(R409W +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+4 more
GConflicting classifications of pathogenicity
ERBB4
(R1096H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLT8D1
(K131fs)
Deletion
(frameshift variant)
Frontotemporal dementia
GLikely pathogenic
TREM2
(D39E)
Single nucleotide variant
(missense variant)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
+1 more
GUncertain significance
SETX
(T1558A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+2 more
GConflicting classifications of pathogenicity
SETX
(T372P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETX
(S213F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
LOC108903148, OPTN
(Q79R)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GLikely pathogenic
ANG, EGILA
+1 more
(G123A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CHRNB4
(V220M)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GLikely pathogenic
CHRNB4
(L60F)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GLikely pathogenic
CCNF
(E125K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Frontotemporal dementia
Gno classifications from unflagged records
FUS
(P431L +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
+4 more
GConflicting classifications of pathogenicity
CHRNA4
(T545M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
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