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Links from MedGen

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(N127D +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(T156A +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(R237L +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(K80E +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(I60V +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GLikely benign
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(S142* +2 more)
Single nucleotide variant
(nonsense)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(G23S +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(D107del +2 more)
Microsatellite
(inframe_indel +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(K18E +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(A179fs +1 more)
Deletion
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(T24I +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(G170A +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(T48fs +1 more)
Microsatellite
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(T121I +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(D11V +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(M117V +2 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(5 prime UTR variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Deletion
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(A185D +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(V10M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(N102D +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(M96T +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(R30S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(T83I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CHMP2B, POU1F1
Deletion
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(N72K +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(R28W +1 more)
Single nucleotide variant
(missense variant)
CHMP2B-related disorder
+1 more
GUncertain significance
CHMP2B
(P182L +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(R205Q +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
CHMP2B-related disorder
+1 more
GConflicting classifications of pathogenicity
CHMP2B
(M100I +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(M100V +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(K22E +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GUncertain significance
CHMP2B
(R32*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
CHMP2B-related disorder
+1 more
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(R30G)
Single nucleotide variant
(missense variant +1 more)
CHMP2B-related disorder
+1 more
GConflicting classifications of pathogenicity
CHMP2B
(R164W +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(K18R +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GConflicting classifications of pathogenicity
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(R19Q)
Single nucleotide variant
(missense variant +1 more)
CHMP2B-related disorder
+1 more
GConflicting classifications of pathogenicity
CHMP2B, LOC129937086
Single nucleotide variant
(5 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(5 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
(R28Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHMP2B
(K90E +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
CHMP2B
(K14Q +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GLikely benign
CHMP2B
(R22*)
Single nucleotide variant
(nonsense +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+2 more
GConflicting classifications of pathogenicity
CHMP2B
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+2 more
GBenign/Likely benign
CHMP2B
(S194L +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GUncertain significance
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+2 more
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
GBenign/Likely benign
CHMP2B
(T73M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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