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Links from MedGen

Items: 1 to 100 of 681

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C9orf72
(Q350*)
Single nucleotide variant
(nonsense)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
(E45Q)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GUncertain significance
SQSTM1
(C21G +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(S277A +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(R161L +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(E104fs +1 more)
Duplication
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GPathogenic
SQSTM1
(P171T +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC112997583, SQSTM1
(L310fs +1 more)
Deletion
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely pathogenic
LOC129995449, SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A33T)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(Q241* +1 more)
Single nucleotide variant
(nonsense)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GPathogenic
SQSTM1
(G113E +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(N125I +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(V171fs +1 more)
Duplication
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GPathogenic
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(S3L)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(R212P +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
(R46P)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(S244L +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(S170N +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(P119Q +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
(R46W)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(Q287* +1 more)
Single nucleotide variant
(nonsense)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GPathogenic
SQSTM1
(G133R +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
Indel
(intron variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely pathogenic
LOC129995449, SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(Q316H +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(R125P +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(D172L +1 more)
Indel
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(S226C +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(P166S +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(L329V +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(splice acceptor variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely pathogenic
SQSTM1
Deletion
(inframe_deletion)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(K13E)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(R119G +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(G297R +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(L269P +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GLikely benign
SQSTM1
(R23Q +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(P300S +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(S248T +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(D15N)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
(A65E)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(N246D +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(C131Y +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(A167T +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(G194E +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(T350R +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(P353L +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(E235fs +1 more)
Deletion
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(M87T +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(T330S +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(P384A +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(C61S +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(M3V +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(M85T +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
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