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Items: 1 to 100 of 793

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
ADAMTS2, BTNL3
+207 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS2, BTNL3
+203 more
Copy number gain
See cases
GUncertain significance
CANX, CBY3
+85 more
Copy number loss
See cases
GLikely pathogenic
MGAT4B, SQSTM1
(L20F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SQSTM1
Deletion
(intron variant)
not provided
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
not provided
GBenign
SQSTM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SQSTM1
Single nucleotide variant
(intron variant)
Bone Paget disease
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
GUncertain significance
SQSTM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Paget disease of bone 3
GUncertain significance
SQSTM1
Single nucleotide variant
(intron variant +1 more)
Paget disease of bone 3
GBenign
SQSTM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Paget disease of bone 3
GUncertain significance
SQSTM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Paget disease of bone 3
GUncertain significance
SQSTM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Paget disease of bone 3
GUncertain significance
SQSTM1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Paget disease of bone 2, early-onset
+3 more
GConflicting classifications of pathogenicity
SQSTM1
(M1K)
Single nucleotide variant
(missense variant +2 more)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
(M1I)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(M1I)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A2V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 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
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(T5N)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(V6L)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A8T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(Y9H)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(Y9C)
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 +1 more)
Paget disease of bone 2, early-onset
+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
(G12R)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GUncertain significance
SQSTM1
(G12V)
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 +1 more)
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
GUncertain significance
SQSTM1
(K13E)
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 +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(D15N)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A16T)
Single nucleotide variant
(missense variant +1 more)
SQSTM1-related disorder
+4 more
GUncertain significance
SQSTM1
(A17V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
SQSTM1
(R18H)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Paget disease of bone 2, early-onset
+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
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(F25L)
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 +1 more)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
(S28R)
Single nucleotide variant
(intron variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GUncertain significance
SQSTM1
(P29S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(P29R)
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 +1 more)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
(E30K)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(A33T)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A33S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A33G)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A33V)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 2, early-onset
+5 more
GConflicting classifications of pathogenicity
SQSTM1
(A35V)
Single nucleotide variant
(missense variant +1 more)
SQSTM1-related disorder
GUncertain significance
SQSTM1
(A35G)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(G42fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
SQSTM1
(E36K)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
Indel
(inframe_indel +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(A38E)
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 +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
SQSTM1
(A39V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
SQSTM1
(P41S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(P41L)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1
(P43S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GUncertain significance
SQSTM1
(E45Q)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 2, early-onset
+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
LOC129995449, SQSTM1
(R46P)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
SQSTM1, LOC129995449
(L47V)
Single nucleotide variant
(missense variant +1 more)
SQSTM1-related disorder
+2 more
GUncertain significance
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
(A52S)
Single nucleotide variant
(missense variant +1 more)
SQSTM1-related disorder
+2 more
GUncertain significance
LOC129995449, SQSTM1
(A53V)
Single nucleotide variant
(intron variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GUncertain significance
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
LOC129995449, SQSTM1
(F55L)
Single nucleotide variant
(missense variant +1 more)
Paget disease of bone 3
GUncertain significance
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
LOC129995449, SQSTM1
(L58del)
Deletion
(inframe_deletion +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GLikely benign
LOC129995449, SQSTM1
(R59fs)
Duplication
(intron variant +1 more)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
LOC129995449, SQSTM1
(P60S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GUncertain significance
LOC129995449, SQSTM1
(G61S)
Single nucleotide variant
(intron variant +1 more)
Paget disease of bone 3
GUncertain significance
LOC129995449, SQSTM1
Single nucleotide variant
(intron variant +1 more)
Paget disease of bone 2, early-onset
+1 more
GLikely benign
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
LOC129995449, SQSTM1
Indel
(intron variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely pathogenic
LOC129995449, SQSTM1
(G62V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
LOC129995449, SQSTM1
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+1 more
GLikely benign
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