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Links from MedGen

Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBQLN2
(L96M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(Q425H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(I501M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T508N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
(P440S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(T350I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(S527P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
LOC130068339, UBQLN2
(I215M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S260N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S147I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A361T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(P578L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T326I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T334M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
UBQLN2-related disorder
+1 more
GLikely benign
UBQLN2
(I275L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(G343D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A26S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T508A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A523V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
+1 more
GUncertain significance
UBQLN2
(A2S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T464I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
LOC130068339, UBQLN2
(Q216H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(P17S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(N122D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(Q574H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(Q109H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
(P525A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UBQLN2
(P494L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S155N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(E598D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S371N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(A282V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Microsatellite
(inframe_indel +1 more)
Amyotrophic lateral sclerosis type 15
+2 more
GBenign/Likely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
+1 more
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(T134I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
LOC130068339, UBQLN2
(S165F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
+1 more
GBenign/Likely benign
UBQLN2
(G120A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
(T123S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(V354L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S347N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(G144E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(Q584H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
(A542S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
+1 more
GUncertain significance
UBQLN2
(T534M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T335S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
(S340I)
Single nucleotide variant
(missense variant)
UBQLN2-related disorder
+2 more
GConflicting classifications of pathogenicity
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GLikely benign
UBQLN2
(V492L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S7R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(R107Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(P497R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A283T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T496A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A19V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A28P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(S400G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(G532D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(Q286R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(T338I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(R427G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(H93R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
+1 more
GUncertain significance
UBQLN2
(S346C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130068340, UBQLN2
(A242T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GConflicting classifications of pathogenicity
LOC130068340, UBQLN2
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 15
GBenign
UBQLN2
(P576Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(R313H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(V354I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
UBQLN2
(A572T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 15
GUncertain significance
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