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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
Single nucleotide variant
(splice acceptor variant)
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
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