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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
TIMP2, TMEM235
+144 more
Copy number loss
See cases
GLikely pathogenic
C1QTNF1, C1QTNF1-AS1
+55 more
Copy number gain
See cases
GUncertain significance
USP36
(R912C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P1113A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(F1099L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP36
(K1082N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R1064W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(Q1027L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R1021Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R1007H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(A776T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(E990D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(K811R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(L765F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V969L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(D722N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(G717S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(G703C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V691L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R887P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
USP36
(S693N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R686C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(K640Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(K628R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USP36
(F651S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P586L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(E624G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(T617M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R610W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P544R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R585H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(H736R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(P517H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USP36
(P712T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
USP36
(G494V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V669L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V444M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P436S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(A483V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(A438T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP36
(T424M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P411S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P462S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(A407V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(S455I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(K387R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(H429L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(G383W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(T581S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V368A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V359F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(L343R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R338T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(F335L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(A321S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(T523R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P296S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P479L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
USP36
(T475M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(N249S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(P236L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R226H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R445C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(G444S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP36
(G219A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP36
(Y206C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(N412T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V409A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V244L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(V199M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(N187D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(Q138E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP36
(P136L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USP36
(N103S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(T106N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(F315L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(K96R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(E78K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(I281V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(A279V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
(R111Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP36
(S91C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP36
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USP36
(G227V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
USP36
(R202H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
USP36
(H200N +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
USP36
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign/Likely benign
USP36
(R157H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
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