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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
LINC02057, LINC02101
+518 more
Copy number gain
See cases
GPathogenic
LOC126807367, LOC126807368
+254 more
Copy number gain
See cases
GPathogenic
ANXA2R, ANXA2R-AS1
+245 more
Copy number gain
See cases
GPathogenic
C9, CPLANE1
+66 more
Copy number gain
See cases
GPathogenic
OSMR, RICTOR
(D1627N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSMR, RICTOR
(S1571L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSMR, RICTOR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OSMR, RICTOR
(S1534C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(S1494P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RICTOR
(D1169G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(N1164fs +2 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
RICTOR
(I1157S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(I1151T +2 more)
Single nucleotide variant
(missense variant)
Neoplasm
OUncertain significance
RICTOR
(R1125P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(M1381L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RICTOR
(T1076I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(S1063P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(M1056I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(I1023V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(R1014K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(L994V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(S993P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(S1267N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(T965A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(L898F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(Q869P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(P1105T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(K1095N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(D782G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(T1057A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(S1043N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(V718L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
RICTOR
(N656S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(R910C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(R588P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(R873H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(L847F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RICTOR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RICTOR
(T722S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(D425G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(L420F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(Q683H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(P670S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(V631A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(L591V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(K256E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(I217T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(K203Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(P462T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(S173F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(M170T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(H162Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(H157R +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure
GLikely pathogenic
RICTOR
(R137K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(E410A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(R116C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(R95H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
(I91V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RICTOR
(R336H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RICTOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RICTOR
(Q118R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RICTOR
(I116V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RICTOR
(I70T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGXT2, AMACR
+32 more
Duplication
not provided
GUncertain significance
FYB1, OSMR
+1 more
Copy number gain
not provided
GUncertain significance
ADAMTS12, AGXT2
+71 more
Copy number gain
not provided
GPathogenic
ANXA2R, C5orf34
+45 more
Copy number gain
musculoskeletal system issues
GPathogenic
ADAMTS12, AGXT2
+72 more
Copy number gain
not specified
GPathogenic
AGXT2, ANXA2R
+51 more
Copy number gain
not provided
GPathogenic
ADAMTS12, AGXT2
+71 more
Copy number gain
See cases
GPathogenic
GHR, CARD6
+31 more
Copy number gain
not provided
GPathogenic
AGXT2, ANXA2R
+56 more
Copy number gain
not provided
GPathogenic
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
C1QTNF3, C5orf22
+71 more
Copy number gain
not provided
GPathogenic
ADAMTS12, AGXT2
+73 more
Copy number gain
See cases
GLikely pathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
C9, EGFLAM
+10 more
Copy number gain
See cases
GUncertain significance
RXFP3, GDNF
+89 more
Copy number gain
See cases
GPathogenic
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