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Items: 1 to 100 of 842

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063246, LOC130063247
+810 more
Copy number gain
See cases
GPathogenic
ACTL9, ADAMTS10
+132 more
Duplication
Autism
GLikely pathogenic
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Duplication
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Deletion
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GBenign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GBenign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GBenign/Likely benign
ADAMTS10
Duplication
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10, LOC130063441
Duplication
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
ADAMTS10, LOC130063441
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10, LOC130063441
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(H1101Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(Q1094H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAMTS10
(M582fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ADAMTS10
(R580S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(A1090T +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
(S1088R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(S1088G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(L1082V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(K1074R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Deletion
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Microsatellite
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Deletion
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(G1065S +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GBenign/Likely benign
ADAMTS10
(G1063V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAMTS10
(T1061N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(S546R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(D1058H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(C1057S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(E1054Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
(Q539* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(T1050M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(T1050R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(H1039P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(S1038T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAMTS10
(Q1036H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ADAMTS10
(H1033Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(T1031N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
(R1029S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(V1028G +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
(S1027P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS10
Insertion
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS10
Duplication
(intron variant)
Weill-Marchesani syndrome
+1 more
GBenign/Likely benign
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