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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129995449, SQSTM1
(Y67C)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+1 more
GUncertain significance
SQSTM1
(P303A +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
GUncertain significance
SQSTM1
(D149N +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+2 more
GUncertain significance
SQSTM1
(D80E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
GUncertain significance
SQSTM1
(H352Y +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
GUncertain significance
SQSTM1
(G327S +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+3 more
GPathogenic/Likely pathogenic
GRN
(N119del)
Microsatellite
(inframe_deletion)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+2 more
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+4 more
GBenign
SQSTM1
(K103R +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GUncertain significance
SQSTM1
Deletion
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
GLikely pathogenic
SQSTM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
GUncertain significance
SQSTM1
(P354L +1 more)
Single nucleotide variant
(missense variant)
Paget disease of bone 2, early-onset
+4 more
GUncertain significance
SQSTM1
(A17V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
SQSTM1
(R125C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SQSTM1
(A342V +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+4 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+7 more
GBenign/Likely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+7 more
GBenign/Likely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
Myopathy, distal, with rimmed vacuoles
+7 more
GBenign
SQSTM1
Single nucleotide variant
(synonymous variant)
Myopathy, distal, with rimmed vacuoles
+7 more
GBenign
SQSTM1
(A33V)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 2, early-onset
+5 more
GConflicting classifications of pathogenicity
SQSTM1
(K154del +1 more)
Microsatellite
(inframe_deletion)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GUncertain significance
SQSTM1
(P387L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SQSTM1
(P392L +1 more)
Single nucleotide variant
(missense variant)
Paget disease of bone 3
+6 more
GConflicting classifications of pathogenicity
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